From fb8f76a23e4a4776f242ae3cef875b0157b0961c Mon Sep 17 00:00:00 2001 From: Seung-been Lee Date: Mon, 6 Dec 2021 17:30:59 +0900 Subject: [PATCH 01/66] Bump up version number --- CHANGELOG.rst | 3 +++ pypgx/version.py | 2 +- 2 files changed, 4 insertions(+), 1 deletion(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index 0c28c751..3b6567bc 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -1,6 +1,9 @@ Changelog ********* +0.10.0 (in development) +----------------------- + 0.9.0 (2021-12-05) ------------------ diff --git a/pypgx/version.py b/pypgx/version.py index e4e49b3b..9d1bb721 100644 --- a/pypgx/version.py +++ b/pypgx/version.py @@ -1 +1 @@ -__version__ = '0.9.0' +__version__ = '0.10.0' From 303a65e83a810ba40a4307ae05956151c6d65de0 Mon Sep 17 00:00:00 2001 From: Seung-been Lee Date: Mon, 6 Dec 2021 21:17:56 +0900 Subject: [PATCH 02/66] Update `import-variants` (#32) * :issue:`32`: Update :command:`import-variants` command to accept phased VCF as input. It will output VcfFrame[Consolidated] if the input VCF is fully phased or otherwise VcfFrame[Imported] as usual. --- CHANGELOG.rst | 2 ++ README.rst | 2 +- docs/cli.rst | 12 +++++++++--- pypgx/api/utils.py | 33 ++++++++++++++++++++++++--------- pypgx/cli/import_variants.py | 12 +++++++++--- 5 files changed, 45 insertions(+), 16 deletions(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index 3b6567bc..4dd896d2 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -4,6 +4,8 @@ Changelog 0.10.0 (in development) ----------------------- +* :issue:`32`: Update :command:`import-variants` command to accept phased VCF as input. It will output VcfFrame[Consolidated] if the input VCF is fully phased or otherwise VcfFrame[Imported] as usual. + 0.9.0 (2021-12-05) ------------------ diff --git a/README.rst b/README.rst index 569d8119..71d85180 100644 --- a/README.rst +++ b/README.rst @@ -345,7 +345,7 @@ For getting help on the CLI: Estimate haplotype phase of observed variants with the Beagle program. filter-samples Filter Archive file for specified samples. import-read-depth Import read depth data for the target gene. - import-variants Import variant data for the target gene. + import-variants Import variant (SNV/indel) data for the target gene plot-bam-copy-number Plot copy number profile from CovFrame[CopyNumber]. plot-bam-read-depth diff --git a/docs/cli.rst b/docs/cli.rst index b139b898..445eae58 100644 --- a/docs/cli.rst +++ b/docs/cli.rst @@ -37,7 +37,7 @@ For getting help on the CLI: Estimate haplotype phase of observed variants with the Beagle program. filter-samples Filter Archive file for specified samples. import-read-depth Import read depth data for the target gene. - import-variants Import variant data for the target gene. + import-variants Import variant (SNV/indel) data for the target gene plot-bam-copy-number Plot copy number profile from CovFrame[CopyNumber]. plot-bam-read-depth @@ -391,12 +391,18 @@ import-variants usage: pypgx import-variants [-h] [--assembly TEXT] [--platform TEXT] gene vcf imported-variants - Import variant data for the target gene. + Import variant (SNV/indel) data for the target gene. + + The command will first slice input VCF for the target gene and then assess + whether every genotype call in the sliced VCF is haplotype phased. It will + return an archive file with the semantic type VcfFrame[Consolidated] if the + VCF is fully phased or otherwise VcfFrame[Imported]. Positional arguments: gene Target gene. vcf VCF file (zipped or unzipped). - imported-variants Archive file with the semantic type VcfFrame[Imported]. + imported-variants Archive file with the semantic type VcfFrame[Imported] + or VcfFrame[Consolidated]. Optional arguments: -h, --help Show this help message and exit. diff --git a/pypgx/api/utils.py b/pypgx/api/utils.py index b64442ed..c32ab380 100644 --- a/pypgx/api/utils.py +++ b/pypgx/api/utils.py @@ -781,7 +781,13 @@ def import_read_depth( def import_variants(gene, vcf, assembly='GRCh37', platform='WGS'): """ - Import variant data for the target gene. + Import variant (SNV/indel) data for the target gene. + + The method will first slice input VCF for the target gene and then assess + whether every genotype call in the sliced VCF is haplotype phased. It + will return an archive object with the semantic type + VcfFrame[Consolidated] if the VCF is fully phased or otherwise + VcfFrame[Imported]. Parameters ---------- @@ -797,26 +803,35 @@ def import_variants(gene, vcf, assembly='GRCh37', platform='WGS'): Returns ------- pypgx.Archive - Archive object with the semantic type VcfFrame[Imported]. + Archive object with the semantic type VcfFrame[Imported] or + VcfFrame[Consolidated]. """ if isinstance(vcf, str): - vf = pyvcf.VcfFrame.from_file(vcf) + input_vf = pyvcf.VcfFrame.from_file(vcf) else: - vf = vcf + input_vf = vcf region = core.get_region(gene, assembly=assembly) - data = vf.update_chr_prefix(mode='remove').slice(region).strip('GT:AD:DP') - data = data.add_af().unphase() + vf = input_vf.slice(region) + vf = vf.update_chr_prefix(mode='remove') + vf = vf.strip('GT:AD:DP') + vf = vf.add_af() + + if vf.phased: + semantic_type = 'VcfFrame[Consolidated]' + else: + vf = vf.unphase() + semantic_type = 'VcfFrame[Imported]' metadata = { 'Platform': platform, 'Gene': gene, 'Assembly': assembly, - 'SemanticType': 'VcfFrame[Imported]', + 'SemanticType': semantic_type, } - return sdk.Archive(metadata, data) + return sdk.Archive(metadata, vf) def predict_alleles(consolidated_variants): """ @@ -830,7 +845,7 @@ def predict_alleles(consolidated_variants): Returns ------- pypgx.Archive - Archive object with the semantic type VcfFrame SampleTable[Alleles]. + Archive object with the semantic type SampleTable[Alleles]. """ if isinstance(consolidated_variants, str): consolidated_variants = sdk.Archive.from_file(consolidated_variants) diff --git a/pypgx/cli/import_variants.py b/pypgx/cli/import_variants.py index 5a51f77d..6ab1e2e2 100644 --- a/pypgx/cli/import_variants.py +++ b/pypgx/cli/import_variants.py @@ -6,7 +6,12 @@ import pysam description = f""" -Import variant data for the target gene. +Import variant (SNV/indel) data for the target gene. + +The command will first slice input VCF for the target gene and then assess +whether every genotype call in the sliced VCF is haplotype phased. It will +return an archive file with the semantic type VcfFrame[Consolidated] if the +VCF is fully phased or otherwise VcfFrame[Imported]. """ def create_parser(subparsers): @@ -14,7 +19,7 @@ def create_parser(subparsers): subparsers, fuc.api.common._script_name(), description=description, - help='Import variant data for the target gene.', + help='Import variant (SNV/indel) data for the target gene', ) parser.add_argument( 'gene', @@ -27,7 +32,8 @@ def create_parser(subparsers): parser.add_argument( 'imported_variants', metavar='imported-variants', - help='Archive file with the semantic type VcfFrame[Imported].' + help='Archive file with the semantic type VcfFrame[Imported] \n' + 'or VcfFrame[Consolidated].' ) parser.add_argument( '--assembly', From 6c1f58b160adf0eb61a44ab8455d2c11b96d278a Mon Sep 17 00:00:00 2001 From: "Seung-been \"Steven\" Lee" Date: Wed, 8 Dec 2021 17:07:53 +0900 Subject: [PATCH 03/66] Add `sdk.utils.Archive.type` --- CHANGELOG.rst | 1 + pypgx/sdk/utils.py | 5 +++++ 2 files changed, 6 insertions(+) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index 4dd896d2..a96a53d1 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -5,6 +5,7 @@ Changelog ----------------------- * :issue:`32`: Update :command:`import-variants` command to accept phased VCF as input. It will output VcfFrame[Consolidated] if the input VCF is fully phased or otherwise VcfFrame[Imported] as usual. +* Add new property ``sdk.utils.Archive.type`` to quickly access the archive's semantic type. 0.9.0 (2021-12-05) ------------------ diff --git a/pypgx/sdk/utils.py b/pypgx/sdk/utils.py index d47fbc13..6c9c2da7 100644 --- a/pypgx/sdk/utils.py +++ b/pypgx/sdk/utils.py @@ -33,6 +33,11 @@ def __init__(self, metadata, data): self.metadata = metadata self.data = data + @property + def type(self): + """str : Semantic type.""" + return self.metadata['SemanticType'] + def copy_metadata(self): """dict : Copy of the metadata.""" return copy.deepcopy(self.metadata) From 7c84a3b3c1b049551c00829e163efef0428f5799 Mon Sep 17 00:00:00 2001 From: Seung-been Lee Date: Wed, 8 Dec 2021 20:25:09 +0900 Subject: [PATCH 04/66] Update `sdk.utils.Archive.check_type`: * Update :meth:`sdk.utils.Archive.check_type` method to be able to test more than one semantic type at once. --- CHANGELOG.rst | 1 + pypgx/sdk/utils.py | 26 ++++++++++++++++++++------ 2 files changed, 21 insertions(+), 6 deletions(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index a96a53d1..b29697b3 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -6,6 +6,7 @@ Changelog * :issue:`32`: Update :command:`import-variants` command to accept phased VCF as input. It will output VcfFrame[Consolidated] if the input VCF is fully phased or otherwise VcfFrame[Imported] as usual. * Add new property ``sdk.utils.Archive.type`` to quickly access the archive's semantic type. +* Update :meth:`sdk.utils.Archive.check_type` method to be able to test more than one semantic type at once. 0.9.0 (2021-12-05) ------------------ diff --git a/pypgx/sdk/utils.py b/pypgx/sdk/utils.py index 6c9c2da7..2bc534fc 100644 --- a/pypgx/sdk/utils.py +++ b/pypgx/sdk/utils.py @@ -112,15 +112,29 @@ def from_file(cls, fn): raise SemanticTypeNotFoundError(metadata['SemanticType']) return cls(metadata, data) - def check_type(self, semantic_type): + def check_type(self, semantic_types): """ Raise IncorrectSemanticTypeError if the archive does not have - specified semantic type. + specified semantic type(s). + + Parameters + ---------- + semantic_types : str or list + One or more semantic types. """ - actual_type = self.metadata['SemanticType'] - if actual_type != semantic_type: - raise IncorrectSemanticTypeError( - f"Expected '{semantic_type}' but found '{actual_type}'") + if isinstance(semantic_types, str): + semantic_types = [semantic_types] + elif isinstance(semantic_types, list): + pass + else: + message = ('Semantic types must be str or list, ' + f'not {type(semantic_types).__name__}') + raise TypeError(message) + + if self.type not in semantic_types: + message = (f"Expected {'/'.join(semantic_types)}, but" + f" instead found {self.type}") + raise IncorrectSemanticTypeError(message) def check_metadata(self, key, value): """ From 43a77764ea16fa0b2593e7da245a6d6b4c006890 Mon Sep 17 00:00:00 2001 From: Seung-been Lee Date: Wed, 8 Dec 2021 20:50:19 +0900 Subject: [PATCH 05/66] Update `ngs-run-pipeline` to accept phased VCF (#32): * Update :meth:`api.plot.plot_vcf_allele_fraction` method to accept both VcfFrame[Imported] and VcfFrame[Consolidated] * :issue:`32`: Update :command:`run-ngs-pipeline` method to accept phased VCF as input. In this case, the method will skip statistical haplotype phasing. --- CHANGELOG.rst | 2 ++ docs/cli.rst | 8 +++++--- pypgx/api/pipeline.py | 23 ++++++++++++++++------- pypgx/api/plot.py | 8 +++++--- pypgx/cli/run_ngs_pipeline.py | 10 ++++++---- 5 files changed, 34 insertions(+), 17 deletions(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index b29697b3..e77472a6 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -7,6 +7,8 @@ Changelog * :issue:`32`: Update :command:`import-variants` command to accept phased VCF as input. It will output VcfFrame[Consolidated] if the input VCF is fully phased or otherwise VcfFrame[Imported] as usual. * Add new property ``sdk.utils.Archive.type`` to quickly access the archive's semantic type. * Update :meth:`sdk.utils.Archive.check_type` method to be able to test more than one semantic type at once. +* Update :meth:`api.plot.plot_vcf_allele_fraction` method to accept both VcfFrame[Imported] and VcfFrame[Consolidated] +* :issue:`32`: Update :command:`run-ngs-pipeline` method to accept phased VCF as input. In this case, the method will skip statistical haplotype phasing. 0.9.0 (2021-12-05) ------------------ diff --git a/docs/cli.rst b/docs/cli.rst index 445eae58..d7fb3628 100644 --- a/docs/cli.rst +++ b/docs/cli.rst @@ -697,7 +697,9 @@ run-ngs-pipeline Optional arguments: -h, --help Show this help message and exit. - --variants PATH VCF file (zipped or unzipped). + --variants PATH VCF file (zipped or unzipped). Statistical haplotype + phasing will be skipped if input VCF is already fully + phased. --depth-of-coverage PATH Depth of coverage file (zipped or unzipped). --control-statistics PATH @@ -705,8 +707,8 @@ run-ngs-pipeline SampleTable[Statistcs]. --platform TEXT Genotyping platform (default: 'WGS') (choices: 'WGS', 'Targeted') - --assembly TEXT Reference genome assembly (default: 'GRCh37') (choices: - 'GRCh37', 'GRCh38'). + --assembly TEXT Reference genome assembly (default: 'GRCh37') + (choices: 'GRCh37', 'GRCh38'). --panel PATH VCF file corresponding to a reference haplotype panel (zipped or unzipped). By default, the 1KGP panel is used. diff --git a/pypgx/api/pipeline.py b/pypgx/api/pipeline.py index 84c005f5..9fbb6f4f 100644 --- a/pypgx/api/pipeline.py +++ b/pypgx/api/pipeline.py @@ -82,7 +82,8 @@ def run_ngs_pipeline( output : str Output directory. variants : str, optional - VCF file (zipped or unzipped). + VCF file (zipped or unzipped). Statistical haplotype phasing will be + skipped if input VCF is already fully phased. depth_of_coverage : str, optional Archive file or object with the semantic type CovFrame[DepthOfCoverage]. @@ -147,14 +148,22 @@ def run_ngs_pipeline( imported_variants = utils.import_variants(gene, variants, assembly=assembly, platform=platform) imported_variants.to_file(f'{output}/imported-variants.zip') - phased_variants = utils.estimate_phase_beagle( - imported_variants, panel=panel) - phased_variants.to_file(f'{output}/phased-variants.zip') - consolidated_variants = utils.create_consolidated_vcf( - imported_variants, phased_variants) - consolidated_variants.to_file(f'{output}/consolidated-variants.zip') + + # Skip statistical phasing if input VCF is already fully phased. + if imported_variants.type == 'VcfFrame[Consolidated]': + consolidated_variants = imported_variants + else: + phased_variants = utils.estimate_phase_beagle( + imported_variants, panel=panel) + phased_variants.to_file(f'{output}/phased-variants.zip') + consolidated_variants = utils.create_consolidated_vcf( + imported_variants, phased_variants) + consolidated_variants.to_file( + f'{output}/consolidated-variants.zip') + alleles = utils.predict_alleles(consolidated_variants) alleles.to_file(f'{output}/alleles.zip') + if not do_not_plot_allele_fraction: os.mkdir(f'{output}/allele-fraction-profile') plot.plot_vcf_allele_fraction( diff --git a/pypgx/api/plot.py b/pypgx/api/plot.py index 4f052155..ae4a93e0 100644 --- a/pypgx/api/plot.py +++ b/pypgx/api/plot.py @@ -280,12 +280,13 @@ def plot_vcf_allele_fraction( imported_variants, path=None, samples=None, fontsize=25 ): """ - Plot allele fraction profile from VcfFrame[Imported]. + Plot allele fraction profile with VCF data. Parameters ---------- imported_variants : str or pypgx.Archive - Archive file or object with the semantic type VcfFrame[Imported]. + Archive file or object with the semantic type VcfFrame[Imported] or + VcfFrame[Consolidated]. path : str, optional Create plots in this directory. samples : list, optional @@ -296,7 +297,8 @@ def plot_vcf_allele_fraction( if isinstance(imported_variants, str): imported_variants = sdk.Archive.from_file(imported_variants) - imported_variants.check_type('VcfFrame[Imported]') + imported_variants.check_type( + ['VcfFrame[Imported]', 'VcfFrame[Consolidated]']) gene = imported_variants.metadata['Gene'] assembly = imported_variants.metadata['Assembly'] diff --git a/pypgx/cli/run_ngs_pipeline.py b/pypgx/cli/run_ngs_pipeline.py index d9a213ff..e3205a0c 100644 --- a/pypgx/cli/run_ngs_pipeline.py +++ b/pypgx/cli/run_ngs_pipeline.py @@ -57,7 +57,9 @@ def create_parser(subparsers): parser.add_argument( '--variants', metavar='PATH', - help='VCF file (zipped or unzipped).' + help='VCF file (zipped or unzipped). Statistical haplotype \n' + 'phasing will be skipped if input VCF is already fully \n' + 'phased.' ) parser.add_argument( '--depth-of-coverage', @@ -82,8 +84,8 @@ def create_parser(subparsers): '--assembly', metavar='TEXT', default='GRCh37', - help="Reference genome assembly (default: 'GRCh37') (choices: \n" - "'GRCh37', 'GRCh38')." + help="Reference genome assembly (default: 'GRCh37') \n" + "(choices: 'GRCh37', 'GRCh38')." ) parser.add_argument( '--panel', @@ -118,7 +120,7 @@ def main(args): pipeline.run_ngs_pipeline( args.gene, args.output, variants=args.variants, depth_of_coverage=args.depth_of_coverage, - control_statistics=args.control_statistics, assembly=args.assembly, + control_statistics=args.control_statistics, assembly=args.assembly, panel=args.panel, force=args.force, samples=args.samples, do_not_plot_copy_number=args.do_not_plot_copy_number, do_not_plot_allele_fraction=args.do_not_plot_allele_fraction, From f0c87a3608d10c4bda9ccede5b6353befeaef2cd Mon Sep 17 00:00:00 2001 From: "Seung-been \"Steven\" Lee" Date: Thu, 9 Dec 2021 09:09:49 +0900 Subject: [PATCH 06/66] Update docs --- docs/cli.rst | 20 ++++++++++---------- pypgx/api/core.py | 2 +- pypgx/api/pipeline.py | 6 +++--- pypgx/cli/estimate_phase_beagle.py | 4 ++-- pypgx/cli/import_variants.py | 2 +- pypgx/cli/run_chip_pipeline.py | 2 +- pypgx/cli/run_ngs_pipeline.py | 12 ++++++------ 7 files changed, 24 insertions(+), 24 deletions(-) diff --git a/docs/cli.rst b/docs/cli.rst index d7fb3628..002cfdba 100644 --- a/docs/cli.rst +++ b/docs/cli.rst @@ -334,8 +334,8 @@ estimate-phase-beagle Optional arguments: -h, --help Show this help message and exit. --panel PATH VCF file corresponding to a reference haplotype panel - (zipped or unzipped). By default, the 1KGP panel is - used. + (compressed or uncompressed). By default, the 1KGP panel + is used. --impute Perform imputation of missing genotypes. filter-samples @@ -400,7 +400,7 @@ import-variants Positional arguments: gene Target gene. - vcf VCF file (zipped or unzipped). + vcf VCF file (compressed or uncompressed). imported-variants Archive file with the semantic type VcfFrame[Imported] or VcfFrame[Consolidated]. @@ -654,7 +654,7 @@ run-chip-pipeline Positional arguments: gene Target gene. output Output directory. - variants VCF file (zipped or unzipped). + variants VCF file (compressed or uncompressed). Optional arguments: -h, --help Show this help message and exit. @@ -697,11 +697,11 @@ run-ngs-pipeline Optional arguments: -h, --help Show this help message and exit. - --variants PATH VCF file (zipped or unzipped). Statistical haplotype - phasing will be skipped if input VCF is already fully - phased. + --variants PATH VCF file (compressed or uncompressed). Statistical + haplotype phasing will be skipped if input VCF is already + fully phased. --depth-of-coverage PATH - Depth of coverage file (zipped or unzipped). + Depth of coverage file (compressed or uncompressed). --control-statistics PATH Archive file with the semandtic type SampleTable[Statistcs]. @@ -710,8 +710,8 @@ run-ngs-pipeline --assembly TEXT Reference genome assembly (default: 'GRCh37') (choices: 'GRCh37', 'GRCh38'). --panel PATH VCF file corresponding to a reference haplotype panel - (zipped or unzipped). By default, the 1KGP panel is - used. + (compressed or uncompressed). By default, the 1KGP panel + is used. --force Overwrite output directory if it already exists. --samples TEXT [TEXT ...] List of known samples without SV. diff --git a/pypgx/api/core.py b/pypgx/api/core.py index 1f4ebc6e..d560df51 100644 --- a/pypgx/api/core.py +++ b/pypgx/api/core.py @@ -60,7 +60,7 @@ def build_definition_table(gene, assembly='GRCh37'): Returns ------- - fuc.pyvcf.VcfFrame + fuc.api.pyvcf.VcfFrame Definition table. Examples diff --git a/pypgx/api/pipeline.py b/pypgx/api/pipeline.py index 9fbb6f4f..bc2e62f4 100644 --- a/pypgx/api/pipeline.py +++ b/pypgx/api/pipeline.py @@ -25,7 +25,7 @@ def run_chip_pipeline( output : str Output directory. variants : str - VCF file (zipped or unzipped). + VCF file (compressed or uncompressed). assembly : {'GRCh37', 'GRCh38'}, default: 'GRCh37' Reference genome assembly. impute : bool, default: False @@ -82,8 +82,8 @@ def run_ngs_pipeline( output : str Output directory. variants : str, optional - VCF file (zipped or unzipped). Statistical haplotype phasing will be - skipped if input VCF is already fully phased. + VCF file (compressed or uncompressed). Statistical haplotype phasing + will be skipped if input VCF is already fully phased. depth_of_coverage : str, optional Archive file or object with the semantic type CovFrame[DepthOfCoverage]. diff --git a/pypgx/cli/estimate_phase_beagle.py b/pypgx/cli/estimate_phase_beagle.py index 9030dce3..c2a07874 100644 --- a/pypgx/cli/estimate_phase_beagle.py +++ b/pypgx/cli/estimate_phase_beagle.py @@ -31,8 +31,8 @@ def create_parser(subparsers): '--panel', metavar='PATH', help='VCF file corresponding to a reference haplotype panel \n' - '(zipped or unzipped). By default, the 1KGP panel is \n' - 'used.' + '(compressed or uncompressed). By default, the 1KGP panel \n' + 'is used.' ) parser.add_argument( '--impute', diff --git a/pypgx/cli/import_variants.py b/pypgx/cli/import_variants.py index 6ab1e2e2..7ee2a281 100644 --- a/pypgx/cli/import_variants.py +++ b/pypgx/cli/import_variants.py @@ -27,7 +27,7 @@ def create_parser(subparsers): ) parser.add_argument( 'vcf', - help='VCF file (zipped or unzipped).' + help='VCF file (compressed or uncompressed).' ) parser.add_argument( 'imported_variants', diff --git a/pypgx/cli/run_chip_pipeline.py b/pypgx/cli/run_chip_pipeline.py index bef1bb61..affe8293 100644 --- a/pypgx/cli/run_chip_pipeline.py +++ b/pypgx/cli/run_chip_pipeline.py @@ -34,7 +34,7 @@ def create_parser(subparsers): ) parser.add_argument( 'variants', - help='VCF file (zipped or unzipped).' + help='VCF file (compressed or uncompressed).' ) parser.add_argument( '--assembly', diff --git a/pypgx/cli/run_ngs_pipeline.py b/pypgx/cli/run_ngs_pipeline.py index e3205a0c..05238dc9 100644 --- a/pypgx/cli/run_ngs_pipeline.py +++ b/pypgx/cli/run_ngs_pipeline.py @@ -57,14 +57,14 @@ def create_parser(subparsers): parser.add_argument( '--variants', metavar='PATH', - help='VCF file (zipped or unzipped). Statistical haplotype \n' - 'phasing will be skipped if input VCF is already fully \n' - 'phased.' + help='VCF file (compressed or uncompressed). Statistical \n' + 'haplotype phasing will be skipped if input VCF is already \n' + 'fully phased.' ) parser.add_argument( '--depth-of-coverage', metavar='PATH', - help='Depth of coverage file (zipped or unzipped).' + help='Depth of coverage file (compressed or uncompressed).' ) parser.add_argument( '--control-statistics', @@ -91,8 +91,8 @@ def create_parser(subparsers): '--panel', metavar='PATH', help='VCF file corresponding to a reference haplotype panel \n' - '(zipped or unzipped). By default, the 1KGP panel is \n' - 'used.' + '(compressed or uncompressed). By default, the 1KGP panel \n' + 'is used.' ) parser.add_argument( '--force', From 72cc61eb005f01e1961ae982068b04ebb64b6c18 Mon Sep 17 00:00:00 2001 From: "Seung-been \"Steven\" Lee" Date: Thu, 9 Dec 2021 09:15:53 +0900 Subject: [PATCH 07/66] Update docs --- pypgx/api/utils.py | 15 +++++++-------- 1 file changed, 7 insertions(+), 8 deletions(-) diff --git a/pypgx/api/utils.py b/pypgx/api/utils.py index c32ab380..aa990a4b 100644 --- a/pypgx/api/utils.py +++ b/pypgx/api/utils.py @@ -627,7 +627,7 @@ def create_regions_bed( Returns ------- - fuc.pybed.BedFrame + fuc.api.pybed.BedFrame BED file. """ df = core.load_gene_table() @@ -793,8 +793,8 @@ def import_variants(gene, vcf, assembly='GRCh37', platform='WGS'): ---------- gene : str Target gene. - vcf : fuc.pyvcf.VcfFrame or str - VCF file (zipped or unzipped). + vcf : fuc.api.pyvcf.VcfFrame or str + VCF file (compressed or uncompressed). assembly : {'GRCh37', 'GRCh38'}, default: 'GRCh37' Reference genome assembly. platform : {'WGS', 'Targeted', 'Chrip'}, default: 'WGS' @@ -806,14 +806,13 @@ def import_variants(gene, vcf, assembly='GRCh37', platform='WGS'): Archive object with the semantic type VcfFrame[Imported] or VcfFrame[Consolidated]. """ + region = core.get_region(gene, assembly=assembly) + if isinstance(vcf, str): - input_vf = pyvcf.VcfFrame.from_file(vcf) + vf = pyvcf.VcfFrame.from_file(vcf, regions=region) else: - input_vf = vcf - - region = core.get_region(gene, assembly=assembly) + vf = vcf.slice(region) - vf = input_vf.slice(region) vf = vf.update_chr_prefix(mode='remove') vf = vf.strip('GT:AD:DP') vf = vf.add_af() From 5676f14263a0e3e5a445515f07644ca9a47a5e6a Mon Sep 17 00:00:00 2001 From: "Seung-been \"Steven\" Lee" Date: Thu, 9 Dec 2021 10:31:43 +0900 Subject: [PATCH 08/66] Update `run-ngs-pipeline` and `run-chip-pipeline` (#34): * :issue:`34`: Update commands :command:`run-ngs-pipeline` and :command:`run-chip-pipeline` to load large VCF files significantly faster by allowing random access. This also means, from now on, input VCF files must be BGZF compressed (.gz) and indexed (.tbi). --- CHANGELOG.rst | 1 + docs/cli.rst | 27 ++++++++++++++++----------- docs/tutorials.rst | 3 +++ pypgx/api/pipeline.py | 30 ++++++++++++++++++++---------- pypgx/api/utils.py | 6 ++++-- pypgx/cli/import_variants.py | 3 ++- pypgx/cli/run_chip_pipeline.py | 7 +++++-- pypgx/cli/run_ngs_pipeline.py | 17 +++++++++-------- 8 files changed, 60 insertions(+), 34 deletions(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index e77472a6..6b7e1fdf 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -9,6 +9,7 @@ Changelog * Update :meth:`sdk.utils.Archive.check_type` method to be able to test more than one semantic type at once. * Update :meth:`api.plot.plot_vcf_allele_fraction` method to accept both VcfFrame[Imported] and VcfFrame[Consolidated] * :issue:`32`: Update :command:`run-ngs-pipeline` method to accept phased VCF as input. In this case, the method will skip statistical haplotype phasing. +* :issue:`34`: Update commands :command:`run-ngs-pipeline` and :command:`run-chip-pipeline` to load large VCF files significantly faster by allowing random access. This also means, from now on, input VCF files must be BGZF compressed (.gz) and indexed (.tbi). 0.9.0 (2021-12-05) ------------------ diff --git a/docs/cli.rst b/docs/cli.rst index 002cfdba..1c7d3758 100644 --- a/docs/cli.rst +++ b/docs/cli.rst @@ -400,7 +400,8 @@ import-variants Positional arguments: gene Target gene. - vcf VCF file (compressed or uncompressed). + vcf Input VCF file must be already BGZF compressed (.gz) and + indexed (.tbi) to allow random access. imported-variants Archive file with the semantic type VcfFrame[Imported] or VcfFrame[Consolidated]. @@ -654,7 +655,10 @@ run-chip-pipeline Positional arguments: gene Target gene. output Output directory. - variants VCF file (compressed or uncompressed). + variants Input VCF file must be already BGZF compressed (.gz) + and indexed (.tbi) to allow random access. Statistical + haplotype phasing will be skipped if input VCF is + already fully phased. Optional arguments: -h, --help Show this help message and exit. @@ -667,7 +671,7 @@ run-chip-pipeline $ pypgx run-chip-pipeline \ CYP3A5 \ CYP3A5-pipeline \ - variants.vcf + variants.vcf.gz run-ngs-pipeline ================ @@ -697,9 +701,10 @@ run-ngs-pipeline Optional arguments: -h, --help Show this help message and exit. - --variants PATH VCF file (compressed or uncompressed). Statistical - haplotype phasing will be skipped if input VCF is already - fully phased. + --variants PATH Input VCF file must be already BGZF compressed (.gz) + and indexed (.tbi) to allow random access. Statistical + haplotype phasing will be skipped if input VCF is + already fully phased. --depth-of-coverage PATH Depth of coverage file (compressed or uncompressed). --control-statistics PATH @@ -710,8 +715,8 @@ run-ngs-pipeline --assembly TEXT Reference genome assembly (default: 'GRCh37') (choices: 'GRCh37', 'GRCh38'). --panel PATH VCF file corresponding to a reference haplotype panel - (compressed or uncompressed). By default, the 1KGP panel - is used. + (compressed or uncompressed). By default, the 1KGP + panel is used. --force Overwrite output directory if it already exists. --samples TEXT [TEXT ...] List of known samples without SV. @@ -724,13 +729,13 @@ run-ngs-pipeline $ pypgx run-ngs-pipeline \ CYP3A5 \ CYP3A5-pipeline \ - --variants variants.vcf + --variants variants.vcf.gz [Example] To genotype the CYP2D6 gene, which does have SV, from WGS data: $ pypgx run-ngs-pipeline \ CYP2D6 \ CYP2D6-pipeline \ - --variants variants.vcf \ + --variants variants.vcf.gz \ --depth-of-coverage depth-of-coverage.tsv \ --control-statistcs control-statistics-VDR.zip @@ -738,7 +743,7 @@ run-ngs-pipeline $ pypgx run-ngs-pipeline \ CYP2D6 \ CYP2D6-pipeline \ - --variants variants.vcf \ + --variants variants.vcf.gz \ --depth-of-coverage depth-of-coverage.tsv \ --control-statistcs control-statistics-VDR.zip \ --platform Targeted diff --git a/docs/tutorials.rst b/docs/tutorials.rst index 96184d84..0f29c2c1 100644 --- a/docs/tutorials.rst +++ b/docs/tutorials.rst @@ -37,9 +37,11 @@ those from: .. code-block:: text $ wget https://raw.githubusercontent.com/sbslee/pypgx-data/main/getrm-wgs-tutorial/grch37-variants.vcf.gz + $ wget https://raw.githubusercontent.com/sbslee/pypgx-data/main/getrm-wgs-tutorial/grch37-variants.vcf.gz.tbi $ wget https://raw.githubusercontent.com/sbslee/pypgx-data/main/getrm-wgs-tutorial/grch37-depth-of-coverage.zip $ wget https://raw.githubusercontent.com/sbslee/pypgx-data/main/getrm-wgs-tutorial/grch37-control-statistics-VDR.zip $ wget https://raw.githubusercontent.com/sbslee/pypgx-data/main/getrm-wgs-tutorial/grch38-variants.vcf.gz + $ wget https://raw.githubusercontent.com/sbslee/pypgx-data/main/getrm-wgs-tutorial/grch38-variants.vcf.gz.tbi $ wget https://raw.githubusercontent.com/sbslee/pypgx-data/main/getrm-wgs-tutorial/grch38-depth-of-coverage.zip $ wget https://raw.githubusercontent.com/sbslee/pypgx-data/main/getrm-wgs-tutorial/grch38-control-statistics-VDR.zip @@ -174,6 +176,7 @@ For convenience, I prepared input files: $ mkdir coriell-affy-tutorial $ cd coriell-affy-tutorial $ wget https://raw.githubusercontent.com/sbslee/pypgx-data/main/coriell-affy-tutorial/variants.vcf.gz + $ wget https://raw.githubusercontent.com/sbslee/pypgx-data/main/coriell-affy-tutorial/variants.vcf.gz.tbi Next, run the chip pipeline: diff --git a/pypgx/api/pipeline.py b/pypgx/api/pipeline.py index bc2e62f4..3e8282b1 100644 --- a/pypgx/api/pipeline.py +++ b/pypgx/api/pipeline.py @@ -24,8 +24,10 @@ def run_chip_pipeline( Target gene. output : str Output directory. - variants : str - VCF file (compressed or uncompressed). + variants : str, optional + Input VCF file must be already BGZF compressed (.gz) and indexed + (.tbi) to allow random access. Statistical haplotype phasing will be + skipped if input VCF is already fully phased. assembly : {'GRCh37', 'GRCh38'}, default: 'GRCh37' Reference genome assembly. impute : bool, default: False @@ -44,12 +46,19 @@ def run_chip_pipeline( imported_variants = utils.import_variants(gene, variants, assembly=assembly, platform='Chip') imported_variants.to_file(f'{output}/imported-variants.zip') - phased_variants = utils.estimate_phase_beagle(imported_variants, - panel=panel, impute=impute) - phased_variants.to_file(f'{output}/phased-variants.zip') - consolidated_variants = utils.create_consolidated_vcf( - imported_variants, phased_variants) - consolidated_variants.to_file(f'{output}/consolidated-variants.zip') + + # Skip statistical phasing if input VCF is already fully phased. + if imported_variants.type == 'VcfFrame[Consolidated]': + consolidated_variants = imported_variants + else: + phased_variants = utils.estimate_phase_beagle( + imported_variants, panel=panel) + phased_variants.to_file(f'{output}/phased-variants.zip') + consolidated_variants = utils.create_consolidated_vcf( + imported_variants, phased_variants) + consolidated_variants.to_file( + f'{output}/consolidated-variants.zip') + alleles = utils.predict_alleles(consolidated_variants) alleles.to_file(f'{output}/alleles.zip') genotypes = genotype.call_genotypes(alleles=alleles) @@ -82,8 +91,9 @@ def run_ngs_pipeline( output : str Output directory. variants : str, optional - VCF file (compressed or uncompressed). Statistical haplotype phasing - will be skipped if input VCF is already fully phased. + Input VCF file must be already BGZF compressed (.gz) and indexed + (.tbi) to allow random access. Statistical haplotype phasing will be + skipped if input VCF is already fully phased. depth_of_coverage : str, optional Archive file or object with the semantic type CovFrame[DepthOfCoverage]. diff --git a/pypgx/api/utils.py b/pypgx/api/utils.py index aa990a4b..3fcfe361 100644 --- a/pypgx/api/utils.py +++ b/pypgx/api/utils.py @@ -793,8 +793,10 @@ def import_variants(gene, vcf, assembly='GRCh37', platform='WGS'): ---------- gene : str Target gene. - vcf : fuc.api.pyvcf.VcfFrame or str - VCF file (compressed or uncompressed). + vcf : str or fuc.api.pyvcf.VcfFrame + Input VCF file must be already BGZF compressed (.gz) and indexed + (.tbi) to allow random access. Alternatively, you can provide a + VcfFrame object. assembly : {'GRCh37', 'GRCh38'}, default: 'GRCh37' Reference genome assembly. platform : {'WGS', 'Targeted', 'Chrip'}, default: 'WGS' diff --git a/pypgx/cli/import_variants.py b/pypgx/cli/import_variants.py index 7ee2a281..c8be45d7 100644 --- a/pypgx/cli/import_variants.py +++ b/pypgx/cli/import_variants.py @@ -27,7 +27,8 @@ def create_parser(subparsers): ) parser.add_argument( 'vcf', - help='VCF file (compressed or uncompressed).' + help='Input VCF file must be already BGZF compressed (.gz) and \n' + 'indexed (.tbi) to allow random access.' ) parser.add_argument( 'imported_variants', diff --git a/pypgx/cli/run_chip_pipeline.py b/pypgx/cli/run_chip_pipeline.py index affe8293..d178f773 100644 --- a/pypgx/cli/run_chip_pipeline.py +++ b/pypgx/cli/run_chip_pipeline.py @@ -13,7 +13,7 @@ $ pypgx {fuc.api.common._script_name()} \\ CYP3A5 \\ CYP3A5-pipeline \\ - variants.vcf + variants.vcf.gz """ def create_parser(subparsers): @@ -34,7 +34,10 @@ def create_parser(subparsers): ) parser.add_argument( 'variants', - help='VCF file (compressed or uncompressed).' + help='Input VCF file must be already BGZF compressed (.gz) \n' + 'and indexed (.tbi) to allow random access. Statistical \n' + 'haplotype phasing will be skipped if input VCF is \n' + 'already fully phased.' ) parser.add_argument( '--assembly', diff --git a/pypgx/cli/run_ngs_pipeline.py b/pypgx/cli/run_ngs_pipeline.py index 05238dc9..a1cefd34 100644 --- a/pypgx/cli/run_ngs_pipeline.py +++ b/pypgx/cli/run_ngs_pipeline.py @@ -18,13 +18,13 @@ $ pypgx {fuc.api.common._script_name()} \\ CYP3A5 \\ CYP3A5-pipeline \\ - --variants variants.vcf + --variants variants.vcf.gz [Example] To genotype the CYP2D6 gene, which does have SV, from WGS data: $ pypgx {fuc.api.common._script_name()} \\ CYP2D6 \\ CYP2D6-pipeline \\ - --variants variants.vcf \\ + --variants variants.vcf.gz \\ --depth-of-coverage depth-of-coverage.tsv \\ --control-statistcs control-statistics-VDR.zip @@ -32,7 +32,7 @@ $ pypgx {fuc.api.common._script_name()} \\ CYP2D6 \\ CYP2D6-pipeline \\ - --variants variants.vcf \\ + --variants variants.vcf.gz \\ --depth-of-coverage depth-of-coverage.tsv \\ --control-statistcs control-statistics-VDR.zip \\ --platform Targeted @@ -57,9 +57,10 @@ def create_parser(subparsers): parser.add_argument( '--variants', metavar='PATH', - help='VCF file (compressed or uncompressed). Statistical \n' - 'haplotype phasing will be skipped if input VCF is already \n' - 'fully phased.' + help='Input VCF file must be already BGZF compressed (.gz) \n' + 'and indexed (.tbi) to allow random access. Statistical \n' + 'haplotype phasing will be skipped if input VCF is \n' + 'already fully phased.' ) parser.add_argument( '--depth-of-coverage', @@ -91,8 +92,8 @@ def create_parser(subparsers): '--panel', metavar='PATH', help='VCF file corresponding to a reference haplotype panel \n' - '(compressed or uncompressed). By default, the 1KGP panel \n' - 'is used.' + '(compressed or uncompressed). By default, the 1KGP \n' + 'panel is used.' ) parser.add_argument( '--force', From 735148623a95f4a229914771e3f85a4c82275d63 Mon Sep 17 00:00:00 2001 From: "Seung-been \"Steven\" Lee" Date: Fri, 10 Dec 2021 16:13:59 +0900 Subject: [PATCH 09/66] Fix typo --- docs/genes.rst | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/docs/genes.rst b/docs/genes.rst index e52dc1d1..b8ad29af 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -458,7 +458,7 @@ Below is comprehensive summary of SV described from real NGS studies: - Source - Coriell ID * - \*5 - - Deletion + - DeletionHet - \*5/\*29 - - :download:`Profile ` From bbf0bc523fef65bc4e639c37f25081a99e1aec8e Mon Sep 17 00:00:00 2001 From: Seung-been Lee Date: Sat, 11 Dec 2021 14:39:38 +0900 Subject: [PATCH 10/66] Update phenotype data for IFNL3 (#36) --- CHANGELOG.rst | 1 + docs/genes.rst | 29 +++++++++++++++++++++++++++-- pypgx/api/core.py | 2 ++ pypgx/api/data/allele-table.csv | 4 ++-- pypgx/api/data/diplotype-table.csv | 12 +++++++++++- pypgx/api/data/gene-table.csv | 2 +- pypgx/api/data/phenotype-table.csv | 3 +++ 7 files changed, 47 insertions(+), 6 deletions(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index 6b7e1fdf..935a40a9 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -10,6 +10,7 @@ Changelog * Update :meth:`api.plot.plot_vcf_allele_fraction` method to accept both VcfFrame[Imported] and VcfFrame[Consolidated] * :issue:`32`: Update :command:`run-ngs-pipeline` method to accept phased VCF as input. In this case, the method will skip statistical haplotype phasing. * :issue:`34`: Update commands :command:`run-ngs-pipeline` and :command:`run-chip-pipeline` to load large VCF files significantly faster by allowing random access. This also means, from now on, input VCF files must be BGZF compressed (.gz) and indexed (.tbi). +* :issue:`36`: Update phenotype data for IFNL3. 0.9.0 (2021-12-05) ------------------ diff --git a/docs/genes.rst b/docs/genes.rst index b8ad29af..289c0684 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -166,9 +166,9 @@ Below is a summary table: - ✅ - - Contig differs between GRCh37 and GRCh38. - * - IFNL3 - - + * - :ref:`genes:IFNL3` - + - ✅ - * - NAT1 - @@ -758,6 +758,31 @@ Below is comprehensive summary of SV described from real NGS studies: - `GeT-RM `__ - NA11832 +IFNL3 +===== + +Phenotype summary for IFNL3 +--------------------------- + +Diplotype-phenotype mapping is used for phenotype prediction. + +.. list-table:: + :header-rows: 1 + + * - Phenotype + - Example + * - Favorable Response + - Reference/Reference + * - Unfavorable Response + - Reference/rs12979860 + * - Indeterminate + - Reference/rs8099917 + +Resources for IFNL3 +------------------- + +- `Annotation of CPIC Guideline for peginterferon alfa-2a,peginterferon alfa-2b,ribavirin and IFNL3 `__ + NUDT15 ====== diff --git a/pypgx/api/core.py b/pypgx/api/core.py index d560df51..5ec46ea8 100644 --- a/pypgx/api/core.py +++ b/pypgx/api/core.py @@ -22,9 +22,11 @@ 'Class I (Deficient with CNSHA)', 'Class II (Deficient)', 'Class III (Deficient)', + 'Unfavorable Response', 'Uncertain Function', 'Unknown Function', 'Normal Function', + 'Favorable Response', 'Class IV (Normal)', ] diff --git a/pypgx/api/data/allele-table.csv b/pypgx/api/data/allele-table.csv index 75afb5f6..5f164254 100644 --- a/pypgx/api/data/allele-table.csv +++ b/pypgx/api/data/allele-table.csv @@ -895,8 +895,8 @@ GSTP1,*C,N/A,Unknown Function,"11-67352689-A-G,11-67353579-C-T",N/A,"11-67585218 GSTP1,*D,N/A,Unknown Function,11-67353579-C-T,N/A,11-67586108-C-T,N/A,FALSE GSTT1,*A,N/A,Normal Function,N/A,N/A,N/A,N/A,FALSE GSTT1,*0,N/A,No Function,N/A,N/A,N/A,N/A,TRUE -IFNL3,Reference,N/A,Normal Function,N/A,N/A,N/A,N/A,FALSE -IFNL3,rs12979860,N/A,Unknown Function,19-39738787-C-T,N/A,19-39248147-C-T,N/A,FALSE +IFNL3,Reference,N/A,Favorable Response,N/A,N/A,N/A,N/A,FALSE +IFNL3,rs12979860,N/A,Unfavorable Response,19-39738787-C-T,N/A,19-39248147-C-T,N/A,FALSE IFNL3,rs8099917,N/A,Unknown Function,19-39743165-T-G,N/A,19-39252525-T-G,N/A,FALSE IFNL3,rs12980275,N/A,Unknown Function,19-39731783-A-G,N/A,19-39241143-A-G,N/A,FALSE NAT1,*4,N/A,Normal Function,N/A,N/A,N/A,N/A,FALSE diff --git a/pypgx/api/data/diplotype-table.csv b/pypgx/api/data/diplotype-table.csv index cb34f343..6a9a93e2 100755 --- a/pypgx/api/data/diplotype-table.csv +++ b/pypgx/api/data/diplotype-table.csv @@ -1377,6 +1377,16 @@ CYP3A5,*7/*9,Indeterminate CYP3A5,*8/*8,Indeterminate CYP3A5,*8/*9,Indeterminate CYP3A5,*9/*9,Indeterminate +IFNL3,Reference/Reference,Favorable Response +IFNL3,Reference/rs12979860,Unfavorable Response +IFNL3,Reference/rs8099917,Indeterminate +IFNL3,Reference/rs12980275,Indeterminate +IFNL3,rs12979860/rs12979860,Unfavorable Response +IFNL3,rs12979860/rs8099917,Unfavorable Response +IFNL3,rs12979860/rs12980275,Unfavorable Response +IFNL3,rs8099917/rs8099917,Indeterminate +IFNL3,rs8099917/rs12980275,Indeterminate +IFNL3,rs12980275/rs12980275,Indeterminate NUDT15,*1/*4,Indeterminate NUDT15,*1/*5,Indeterminate NUDT15,*1/*6,Indeterminate @@ -3115,4 +3125,4 @@ UGT1A1,*28/*80+*37,Poor Metabolizer UGT1A1,*36/*80+*37,Intermediate Metabolizer UGT1A1,*37/*80+*37,Poor Metabolizer UGT1A1,*80/*80+*37,Indeterminate -UGT1A1,*80+*37/*80+*37,Poor Metabolizer +UGT1A1,*80+*37/*80+*37,Poor Metabolizer \ No newline at end of file diff --git a/pypgx/api/data/gene-table.csv b/pypgx/api/data/gene-table.csv index 16afcab0..3d0d7f63 100644 --- a/pypgx/api/data/gene-table.csv +++ b/pypgx/api/data/gene-table.csv @@ -38,7 +38,7 @@ G6PD,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,B,B,B,-,X:153756604-153778233,X:15452 GSTM1,TRUE,FALSE,N/A,TRUE,TRUE,N/A,N/A,N/A,*A,*A,*A,+,1:110227417-110239367,1:109684816-109696745,"110230417,110230791,110231294,110231669,110231846,110232892,110233075,110235827,","110230531,110230867,110231359,110231751,110231947,110232988,110233186,110236367,","109687816,109688169,109688672,109689047,109689224,109690270,109690453,109693205,","109687909,109688245,109688737,109689129,109689325,109690366,109690564,109693745," GSTP1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*A,*A,*A,+,11:67348065-67357124,11:67580811-67589653,"67351065,67351604,67351934,67352155,67352608,67353574,67353859,","67351315,67351640,67352041,67352243,67352712,67353682,67354124,","67583811,67584133,67584463,67584684,67585137,67586103,67586388,","67583844,67584169,67584570,67584772,67585241,67586211,67586653," GSTT1,TRUE,FALSE,N/A,FALSE,TRUE,N/A,N/A,N/A,*A,*A,*A,-,22:24373132-24387311,22_KI270879v1_alt:267307-281486,"24376132,24376821,24379360,24381699,24384119,","24376617,24376998,24379511,24381787,24384311,","270307,270996,273535,275874,278294,","270792,271173,273686,275962,278486," -IFNL3,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,Reference,Reference,Reference,-,19:39731245-39738646,19:39240552-39248006,"39734245,39734463,39734647,39735056,39735427,","39734370,39734547,39734797,39735134,39735646,","39243552,39243823,39244007,39244416,39244787,","39243730,39243907,39244157,39244494,39245006," +IFNL3,TRUE,FALSE,N/A,TRUE,FALSE,Diplotype,N/A,N/A,Reference,Reference,Reference,-,19:39731245-39738646,19:39240552-39248006,"39734245,39734463,39734647,39735056,39735427,","39734370,39734547,39734797,39735134,39735646,","39243552,39243823,39244007,39244416,39244787,","39243730,39243907,39244157,39244494,39245006," NAT1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*4,*4,*4,+,8:18064617-18084198,8:18207108-18226689,"18067617,18076919,18079550,","18067689,18076998,18081198,","18210108,18219410,18222041,","18210180,18219489,18223689," NAT2,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*4,*12,*12,+,8:18245791-18261728,8:18388281-18404218,"18248791,18257507,","18248855,18258728,","18391281,18399997,","18391345,18401218," NUDT15,TRUE,FALSE,N/A,TRUE,FALSE,Diplotype,8/18/21,5.0.1,*1,*1,*1,+,13:48608702-48624364,13:48034725-48050221,"48611702,48615055,48619795,","48612040,48615252,48621364,","48037725,48040919,48045659,","48037904,48041116,48047221," diff --git a/pypgx/api/data/phenotype-table.csv b/pypgx/api/data/phenotype-table.csv index e2b79203..3736fa32 100644 --- a/pypgx/api/data/phenotype-table.csv +++ b/pypgx/api/data/phenotype-table.csv @@ -31,6 +31,9 @@ DPYD,Normal Metabolizer,Normal/Routine/Low Risk DPYD,Intermediate Metabolizer,Abnormal/Priority/High Risk DPYD,Poor Metabolizer,Abnormal/Priority/High Risk DPYD,Poor Metabolizer,Abnormal/Priority/High Risk +IFNL3,Favorable Response,None +IFNL3,Unfavorable Response,None +IFNL3,Indeterminate,None NUDT15,Possible Intermediate Metabolizer,Abnormal/Priority/High Risk NUDT15,Poor Metabolizer,Abnormal/Priority/High Risk NUDT15,Normal Metabolizer,Normal/Routine/Low risk From 65ffdcd858605d311414021e08298f06fd4e448b Mon Sep 17 00:00:00 2001 From: Seung-been Lee Date: Sat, 11 Dec 2021 15:36:04 +0900 Subject: [PATCH 11/66] Update phenotype data for CACNA1S (#36) --- CHANGELOG.rst | 2 +- docs/genes.rst | 27 +++++++++++++++++++++++++-- pypgx/api/core.py | 2 ++ pypgx/api/data/allele-table.csv | 6 +++--- pypgx/api/data/diplotype-table.csv | 6 ++++++ pypgx/api/data/gene-table.csv | 2 +- pypgx/api/data/phenotype-table.csv | 2 ++ 7 files changed, 40 insertions(+), 7 deletions(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index 935a40a9..5025f090 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -10,7 +10,7 @@ Changelog * Update :meth:`api.plot.plot_vcf_allele_fraction` method to accept both VcfFrame[Imported] and VcfFrame[Consolidated] * :issue:`32`: Update :command:`run-ngs-pipeline` method to accept phased VCF as input. In this case, the method will skip statistical haplotype phasing. * :issue:`34`: Update commands :command:`run-ngs-pipeline` and :command:`run-chip-pipeline` to load large VCF files significantly faster by allowing random access. This also means, from now on, input VCF files must be BGZF compressed (.gz) and indexed (.tbi). -* :issue:`36`: Update phenotype data for IFNL3. +* :issue:`36`: Update phenotype data for CACNA1S, IFNL3. 0.9.0 (2021-12-05) ------------------ diff --git a/docs/genes.rst b/docs/genes.rst index 289c0684..bc5e41d5 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -30,9 +30,9 @@ Below is a summary table: - - - - * - CACNA1S - - + * - :ref:`genes:CACNA1S` - + - ✅ - * - CFTR - @@ -255,6 +255,29 @@ Below is a summary table: - - +CACNA1S +======= + +Phenotype summary for CACNA1S +----------------------------- + +Diplotype-phenotype mapping is used for phenotype prediction. + + .. list-table:: + :header-rows: 1 + + * - Phenotype + - Example + * - Uncertain Susceptibility + - Reference/Reference + * - Malignant Hyperthermia Susceptibility + - Reference/c.520C>T + +Resources for CACNA1S +--------------------- + +- `Annotation of CPIC Guideline for desflurane and CACNA1S, RYR1 `__ + CYP2A6 ====== diff --git a/pypgx/api/core.py b/pypgx/api/core.py index 5ec46ea8..fab3da6d 100644 --- a/pypgx/api/core.py +++ b/pypgx/api/core.py @@ -23,11 +23,13 @@ 'Class II (Deficient)', 'Class III (Deficient)', 'Unfavorable Response', + 'Malignant Hyperthermia Susceptibility', 'Uncertain Function', 'Unknown Function', 'Normal Function', 'Favorable Response', 'Class IV (Normal)', + 'Uncertain Susceptibility', ] class AlleleNotFoundError(Exception): diff --git a/pypgx/api/data/allele-table.csv b/pypgx/api/data/allele-table.csv index 5f164254..1a275bae 100644 --- a/pypgx/api/data/allele-table.csv +++ b/pypgx/api/data/allele-table.csv @@ -1,9 +1,9 @@ Gene,StarAllele,ActivityScore,Function,GRCh37Core,GRCh37Tag,GRCh38Core,GRCh38Tag,SV ABCB1,*1,N/A,Normal Function,"7-87138645-A-G,7-87160618-A-C,7-87179601-A-G",N/A,"7-87509329-A-G,7-87531302-A-C,7-87550285-A-G",N/A,FALSE ABCB1,*2,N/A,Increased Function,N/A,N/A,N/A,N/A,FALSE -CACNA1S,Reference,N/A,Normal Function,N/A,N/A,N/A,N/A,FALSE -CACNA1S,c.520C>T,N/A,Unknown Function,1-201061121-G-A,N/A,1-201091993-G-A,N/A,FALSE -CACNA1S,c.3257G>A,N/A,Unknown Function,1-201029943-C-T,N/A,1-201060815-C-T,N/A,FALSE +CACNA1S,Reference,N/A,Uncertain Susceptibility,N/A,N/A,N/A,N/A,FALSE +CACNA1S,c.520C>T,N/A,Malignant Hyperthermia Susceptibility,1-201061121-G-A,N/A,1-201091993-G-A,N/A,FALSE +CACNA1S,c.3257G>A,N/A,Malignant Hyperthermia Susceptibility,1-201029943-C-T,N/A,1-201060815-C-T,N/A,FALSE CFTR,Reference,N/A,Normal Function,N/A,N/A,N/A,N/A,FALSE CFTR,F508del,N/A,Unknown Function,7-117199644-ATCT-A,N/A,7-117559590-ATCT-A,N/A,FALSE CFTR,2789+5G->A,N/A,Unknown Function,7-117242922-G-A,N/A,7-117602868-G-A,N/A,FALSE diff --git a/pypgx/api/data/diplotype-table.csv b/pypgx/api/data/diplotype-table.csv index 6a9a93e2..9625b9e6 100755 --- a/pypgx/api/data/diplotype-table.csv +++ b/pypgx/api/data/diplotype-table.csv @@ -1,4 +1,10 @@ Gene,Diplotype,Phenotype +CACNA1S,Reference/Reference,Uncertain Susceptibility +CACNA1S,Reference/c.520C>T,Malignant Hyperthermia Susceptibility +CACNA1S,Reference/c.3257G>A,Malignant Hyperthermia Susceptibility +CACNA1S,c.520C>T/c.520C>T,Malignant Hyperthermia Susceptibility +CACNA1S,c.520C>T/c.3257G>A,Malignant Hyperthermia Susceptibility +CACNA1S,c.3257G>A/c.3257G>A,Malignant Hyperthermia Susceptibility CYP2B6,*1/*1,Normal Metabolizer CYP2B6,*1/*2,Normal Metabolizer CYP2B6,*1/*3,Indeterminate diff --git a/pypgx/api/data/gene-table.csv b/pypgx/api/data/gene-table.csv index 3d0d7f63..1219bce4 100644 --- a/pypgx/api/data/gene-table.csv +++ b/pypgx/api/data/gene-table.csv @@ -1,6 +1,6 @@ Gene,Target,Control,Paralog,Variants,SV,PhenotypeMethod,CPIC,PharmVar,RefAllele,GRCh37Default,GRCh38Default,Strand,GRCh37Region,GRCh38Region,GRCh37ExonStarts,GRCh37ExonEnds,GRCh38ExonStarts,GRCh38ExonEnds ABCB1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*1,*2,*2,-,7:87130178-87345639,7:87500862-87716323,"87133178,87135212,87138590,87144546,87145824,87148641,87150091,87160609,87165773,87168583,87170672,87173444,87174138,87175178,87178663,87179166,87179486,87179783,87180040,87183076,87190578,87195385,87196100,87199487,87214827,87225081,87229432,87230070,87342476,","87133765,87135359,87138797,87144744,87145981,87148782,87150192,87160813,87165857,87168661,87170780,87173591,87174315,87175340,87178834,87179370,87179612,87179894,87180154,87183248,87190703,87195557,87196292,87199539,87214996,87225130,87229506,87230394,87342639,","87503862,87505896,87509274,87515230,87516508,87519325,87520775,87531293,87536457,87539267,87541356,87544128,87544822,87545862,87549347,87549850,87550170,87550467,87550724,87553760,87561262,87566069,87566784,87570171,87585511,87595765,87600116,87600754,87713160,","87504449,87506043,87509481,87515428,87516665,87519466,87520876,87531497,87536541,87539345,87541464,87544275,87544999,87546024,87549518,87550054,87550296,87550578,87550838,87553932,87561387,87566241,87566976,87570223,87585680,87595814,87600190,87601078,87713323," -CACNA1S,TRUE,FALSE,N/A,TRUE,FALSE,N/A,8/28/21,N/A,Reference,Reference,Reference,-,1:201005639-201084694,1:201036511-201115426,"201008639,201009358,201009749,201010631,201012408,201013455,201016242,201016652,201017709,201018130,201019516,201020111,201021684,201022336,201022586,201023632,201027535,201028316,201029785,201030394,201031071,201031589,201034965,201035356,201036014,201038264,201038599,201039399,201041882,201042676,201043633,201044622,201046047,201047006,201052289,201054077,201054563,201056953,201058385,201060767,201061099,201063009,201079291,201081315,","201009210,201009502,201009841,201010717,201012659,201013584,201016367,201016754,201017812,201018227,201019644,201020271,201021776,201022402,201022715,201023689,201027619,201028427,201029944,201030596,201031218,201031642,201035073,201035444,201036121,201038324,201038729,201039532,201041952,201042770,201043748,201044743,201046255,201047232,201052450,201054159,201054709,201057057,201058591,201060920,201061242,201063149,201079397,201081694,","201039511,201040230,201040621,201041503,201043280,201044327,201047114,201047524,201048581,201049002,201050388,201050983,201052556,201053208,201053458,201054504,201058407,201059188,201060657,201061266,201061943,201062461,201065837,201066228,201066886,201069136,201069471,201070271,201072754,201073548,201074505,201075494,201076919,201077878,201083161,201084949,201085435,201087825,201089257,201091639,201091971,201093881,201110163,201112187,","201040082,201040374,201040713,201041589,201043531,201044456,201047239,201047626,201048684,201049099,201050516,201051143,201052648,201053274,201053587,201054561,201058491,201059299,201060816,201061468,201062090,201062514,201065945,201066316,201066993,201069196,201069601,201070404,201072824,201073642,201074620,201075615,201077127,201078104,201083322,201085031,201085581,201087929,201089463,201091792,201092114,201094021,201110269,201112426," +CACNA1S,TRUE,FALSE,N/A,TRUE,FALSE,Diplotype,8/28/21,N/A,Reference,Reference,Reference,-,1:201005639-201084694,1:201036511-201115426,"201008639,201009358,201009749,201010631,201012408,201013455,201016242,201016652,201017709,201018130,201019516,201020111,201021684,201022336,201022586,201023632,201027535,201028316,201029785,201030394,201031071,201031589,201034965,201035356,201036014,201038264,201038599,201039399,201041882,201042676,201043633,201044622,201046047,201047006,201052289,201054077,201054563,201056953,201058385,201060767,201061099,201063009,201079291,201081315,","201009210,201009502,201009841,201010717,201012659,201013584,201016367,201016754,201017812,201018227,201019644,201020271,201021776,201022402,201022715,201023689,201027619,201028427,201029944,201030596,201031218,201031642,201035073,201035444,201036121,201038324,201038729,201039532,201041952,201042770,201043748,201044743,201046255,201047232,201052450,201054159,201054709,201057057,201058591,201060920,201061242,201063149,201079397,201081694,","201039511,201040230,201040621,201041503,201043280,201044327,201047114,201047524,201048581,201049002,201050388,201050983,201052556,201053208,201053458,201054504,201058407,201059188,201060657,201061266,201061943,201062461,201065837,201066228,201066886,201069136,201069471,201070271,201072754,201073548,201074505,201075494,201076919,201077878,201083161,201084949,201085435,201087825,201089257,201091639,201091971,201093881,201110163,201112187,","201040082,201040374,201040713,201041589,201043531,201044456,201047239,201047626,201048684,201049099,201050516,201051143,201052648,201053274,201053587,201054561,201058491,201059299,201060816,201061468,201062090,201062514,201065945,201066316,201066993,201069196,201069601,201070404,201072824,201073642,201074620,201075615,201077127,201078104,201083322,201085031,201085581,201087929,201089463,201091792,201092114,201094021,201110269,201112426," CFTR,TRUE,FALSE,N/A,TRUE,FALSE,N/A,8/28/21,N/A,Reference,Reference,Reference,+,7:117117016-117311719,7:117477024-117671665,"117120016,117144306,117149087,117170952,117174329,117175301,117176601,117180153,117182069,117188694,117199517,117227792,117230406,117231987,117234983,117242879,117243585,117246727,117250572,117251634,117254666,117267575,117282491,117292895,117304741,117305512,117306961,","117120201,117144417,117149196,117171168,117174419,117175465,117176727,117180400,117182162,117188877,117199709,117227887,117230493,117232711,117235112,117242917,117243836,117246807,117250723,117251862,117254767,117267824,117282647,117292985,117304914,117305618,117308719,","117480024,117504252,117509033,117530898,117534275,117535247,117536547,117540099,117542015,117548640,117559463,117587738,117590352,117591933,117594929,117602825,117603531,117606673,117610518,117611580,117614612,117627521,117642437,117652841,117664687,117665458,117666907,","117480147,117504363,117509142,117531114,117534365,117535411,117536673,117540346,117542108,117548823,117559655,117587833,117590439,117592657,117595058,117602863,117603782,117606753,117610669,117611808,117614713,117627770,117642593,117652931,117664860,117665564,117668665," CYP1A1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*1,*1,*1,-,15:75008882-75020951,15:74716541-74728528,"75011882,75013307,75013539,75013754,75013931,75014613,75017781,","75013115,75013394,75013663,75013844,75014058,75015464,75017951,","74719541,74720966,74721198,74721413,74721590,74722272,74725440,","74720774,74721053,74721322,74721503,74721717,74723123,74725528," CYP1A2,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*1A,*1A,*1A,+,15:75038183-75051941,15:74745844-74759607,"75041183,75042070,75043529,75044105,75044464,75045524,75047131,","75041238,75042910,75043650,75044195,75044588,75045611,75048941,","74748844,74749729,74751188,74751764,74752123,74753183,74754790,","74748897,74750569,74751309,74751854,74752247,74753270,74756607," diff --git a/pypgx/api/data/phenotype-table.csv b/pypgx/api/data/phenotype-table.csv index 3736fa32..c6a7d7e3 100644 --- a/pypgx/api/data/phenotype-table.csv +++ b/pypgx/api/data/phenotype-table.csv @@ -1,4 +1,6 @@ Gene,Phenotype,Priority +CACNA1S,Uncertain Susceptibility,Normal Risk +CACNA1S,Malignant Hyperthermia Susceptibility,Abnormal/Priority/High Risk CYP2B6,Intermediate Metabolizer,Abnormal/Priority/High Risk CYP2B6,Normal Metabolizer,Normal/Routine/Low Risk CYP2B6,Poor Metabolizer,Abnormal/Priority/High Risk From 5ac623bf371f0a99ae6c799214e6438b42a595f5 Mon Sep 17 00:00:00 2001 From: Seung-been Lee Date: Sat, 11 Dec 2021 16:02:00 +0900 Subject: [PATCH 12/66] Fix allele function naming for CACNA1S --- docs/genes.rst | 1 + pypgx/api/core.py | 3 +-- pypgx/api/data/allele-table.csv | 6 +++--- 3 files changed, 5 insertions(+), 5 deletions(-) diff --git a/docs/genes.rst b/docs/genes.rst index bc5e41d5..d31b301d 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -277,6 +277,7 @@ Resources for CACNA1S --------------------- - `Annotation of CPIC Guideline for desflurane and CACNA1S, RYR1 `__ +- `CPIC® Guideline for Potent Volatile Anesthetic Agents and Succinylcholine and RYR1 and CACNA1S `__ CYP2A6 ====== diff --git a/pypgx/api/core.py b/pypgx/api/core.py index fab3da6d..40632e51 100644 --- a/pypgx/api/core.py +++ b/pypgx/api/core.py @@ -23,13 +23,12 @@ 'Class II (Deficient)', 'Class III (Deficient)', 'Unfavorable Response', - 'Malignant Hyperthermia Susceptibility', + 'Malignant Hyperthermia Associated', 'Uncertain Function', 'Unknown Function', 'Normal Function', 'Favorable Response', 'Class IV (Normal)', - 'Uncertain Susceptibility', ] class AlleleNotFoundError(Exception): diff --git a/pypgx/api/data/allele-table.csv b/pypgx/api/data/allele-table.csv index 1a275bae..115fb71f 100644 --- a/pypgx/api/data/allele-table.csv +++ b/pypgx/api/data/allele-table.csv @@ -1,9 +1,9 @@ Gene,StarAllele,ActivityScore,Function,GRCh37Core,GRCh37Tag,GRCh38Core,GRCh38Tag,SV ABCB1,*1,N/A,Normal Function,"7-87138645-A-G,7-87160618-A-C,7-87179601-A-G",N/A,"7-87509329-A-G,7-87531302-A-C,7-87550285-A-G",N/A,FALSE ABCB1,*2,N/A,Increased Function,N/A,N/A,N/A,N/A,FALSE -CACNA1S,Reference,N/A,Uncertain Susceptibility,N/A,N/A,N/A,N/A,FALSE -CACNA1S,c.520C>T,N/A,Malignant Hyperthermia Susceptibility,1-201061121-G-A,N/A,1-201091993-G-A,N/A,FALSE -CACNA1S,c.3257G>A,N/A,Malignant Hyperthermia Susceptibility,1-201029943-C-T,N/A,1-201060815-C-T,N/A,FALSE +CACNA1S,Reference,N/A,Normal Function,N/A,N/A,N/A,N/A,FALSE +CACNA1S,c.520C>T,N/A,Malignant Hyperthermia Associated,1-201061121-G-A,N/A,1-201091993-G-A,N/A,FALSE +CACNA1S,c.3257G>A,N/A,Malignant Hyperthermia Associated,1-201029943-C-T,N/A,1-201060815-C-T,N/A,FALSE CFTR,Reference,N/A,Normal Function,N/A,N/A,N/A,N/A,FALSE CFTR,F508del,N/A,Unknown Function,7-117199644-ATCT-A,N/A,7-117559590-ATCT-A,N/A,FALSE CFTR,2789+5G->A,N/A,Unknown Function,7-117242922-G-A,N/A,7-117602868-G-A,N/A,FALSE From 92a2deebe0824f2088ad75dfe66f175e0af5cb2e Mon Sep 17 00:00:00 2001 From: Seung-been Lee Date: Sat, 11 Dec 2021 16:39:03 +0900 Subject: [PATCH 13/66] Update phenotype data for RYR1 (#36) --- CHANGELOG.rst | 2 +- docs/genes.rst | 28 +- pypgx/api/data/allele-table.csv | 96 +-- pypgx/api/data/diplotype-table.csv | 1225 ++++++++++++++++++++++++++++ pypgx/api/data/gene-table.csv | 2 +- pypgx/api/data/phenotype-table.csv | 2 + 6 files changed, 1303 insertions(+), 52 deletions(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index 5025f090..c64795e7 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -10,7 +10,7 @@ Changelog * Update :meth:`api.plot.plot_vcf_allele_fraction` method to accept both VcfFrame[Imported] and VcfFrame[Consolidated] * :issue:`32`: Update :command:`run-ngs-pipeline` method to accept phased VCF as input. In this case, the method will skip statistical haplotype phasing. * :issue:`34`: Update commands :command:`run-ngs-pipeline` and :command:`run-chip-pipeline` to load large VCF files significantly faster by allowing random access. This also means, from now on, input VCF files must be BGZF compressed (.gz) and indexed (.tbi). -* :issue:`36`: Update phenotype data for CACNA1S, IFNL3. +* :issue:`36`: Update phenotype data for CACNA1S, IFNL3, RYR1. 0.9.0 (2021-12-05) ------------------ diff --git a/docs/genes.rst b/docs/genes.rst index d31b301d..5e82d2aa 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -190,9 +190,9 @@ Below is a summary table: - - - - * - RYR1 - - + * - :ref:`genes:RYR1` - + - ✅ - * - SLC15A2 - @@ -831,6 +831,30 @@ Diplotype-phenotype mapping is used for phenotype prediction. * - Indeterminate - \*1/\*4 +RYR1 +==== + +Phenotype summary for RYR1 +-------------------------- + +Diplotype-phenotype mapping is used for phenotype prediction. + +.. list-table:: + :header-rows: 1 + + * - Phenotype + - Example + * - Uncertain Susceptibility + - Reference/Reference + * - Malignant Hyperthermia Susceptibility + - Reference/c.103T>C + +Resources for RYR1 +------------------ + +- `Annotation of CPIC Guideline for desflurane and CACNA1S, RYR1 `__ +- `CPIC® Guideline for Potent Volatile Anesthetic Agents and Succinylcholine and RYR1 and CACNA1S `__ + SLC22A2 ======= diff --git a/pypgx/api/data/allele-table.csv b/pypgx/api/data/allele-table.csv index 115fb71f..ba2f9d0b 100644 --- a/pypgx/api/data/allele-table.csv +++ b/pypgx/api/data/allele-table.csv @@ -1006,54 +1006,54 @@ PTGIS,*4,N/A,Unknown Function,20-48129688-G-T,N/A,20-49513151-G-T,N/A,FALSE PTGIS,*5,N/A,Unknown Function,20-48127584-C-T,N/A,20-49511047-C-T,N/A,FALSE PTGIS,*6,N/A,Unknown Function,20-48130848-C-A,N/A,20-49514311-C-A,N/A,FALSE RYR1,Reference,N/A,Normal Function,N/A,N/A,N/A,N/A,FALSE -RYR1,c.103T>C,N/A,Increased Function,19-38931442-T-C,N/A,19-38440802-T-C,N/A,FALSE -RYR1,c.130C>T,N/A,Increased Function,19-38931469-C-T,N/A,19-38440829-C-T,N/A,FALSE -RYR1,c.487C>T,N/A,Increased Function,19-38934851-C-T,N/A,19-38444211-C-T,N/A,FALSE -RYR1,c.488G>T,N/A,Increased Function,19-38934852-G-T,N/A,19-38444212-G-T,N/A,FALSE -RYR1,c.742G>A,N/A,Increased Function,19-38937350-G-A,N/A,19-38446710-G-A,N/A,FALSE -RYR1,c.742G>C,N/A,Increased Function,19-38937350-G-C,N/A,19-38446710-G-C,N/A,FALSE -RYR1,c.982C>T,N/A,Increased Function,19-38939313-C-T,N/A,19-38448673-C-T,N/A,FALSE -RYR1,c.1021G>A,N/A,Increased Function,19-38939352-G-A,N/A,19-38448712-G-A,N/A,FALSE -RYR1,c.1021G>C,N/A,Increased Function,19-38939352-G-C,N/A,19-38448712-G-C,N/A,FALSE -RYR1,c.1201C>T,N/A,Increased Function,19-38942482-C-T,N/A,19-38451842-C-T,N/A,FALSE -RYR1,c.1209C>G,N/A,Increased Function,19-38942490-C-G,N/A,19-38451850-C-G,N/A,FALSE -RYR1,c.1565A>C,N/A,Increased Function,19-38945999-A-C,N/A,19-38455359-A-C,N/A,FALSE -RYR1,c.1589G>A,N/A,Increased Function,19-38946103-G-A,N/A,19-38455463-G-A,N/A,FALSE -RYR1,c.1597C>T,N/A,Increased Function,19-38946111-C-T,N/A,19-38455471-C-T,N/A,FALSE -RYR1,c.1598G>A,N/A,Increased Function,19-38946112-G-A,N/A,19-38455472-G-A,N/A,FALSE -RYR1,c.1654C>T,N/A,Increased 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Function,19-38990310-C-T,N/A,19-38499670-C-T,N/A,FALSE -RYR1,c.7124G>C,N/A,Increased Function,19-38990371-G-C,N/A,19-38499731-G-C,N/A,FALSE -RYR1,c.7282G>A,N/A,Increased Function,19-38990615-G-A,N/A,19-38499975-G-A,N/A,FALSE -RYR1,c.7300G>A,N/A,Increased Function,19-38990633-G-A,N/A,19-38499993-G-A,N/A,FALSE -RYR1,c.7304G>A,N/A,Increased Function,19-38990637-G-A,N/A,19-38499997-G-A,N/A,FALSE -RYR1,c.7354C>T,N/A,Increased Function,19-38991276-C-T,N/A,19-38500636-C-T,N/A,FALSE -RYR1,c.7360C>T,N/A,Increased Function,19-38991282-C-T,N/A,19-38500642-C-T,N/A,FALSE -RYR1,c.7361G>A,N/A,Increased Function,19-38991283-G-A,N/A,19-38500643-G-A,N/A,FALSE -RYR1,c.7372C>T,N/A,Increased Function,19-38991294-C-T,N/A,19-38500654-C-T,N/A,FALSE -RYR1,c.7373G>A,N/A,Increased Function,19-38991295-G-A,N/A,19-38500655-G-A,N/A,FALSE -RYR1,c.7522C>G,N/A,Increased Function,19-38991538-C-G,N/A,19-38500898-C-G,N/A,FALSE -RYR1,c.7522C>T,N/A,Increased Function,19-38991538-C-T,N/A,19-38500898-C-T,N/A,FALSE -RYR1,c.7523G>A,N/A,Increased Function,19-38991539-G-A,N/A,19-38500899-G-A,N/A,FALSE -RYR1,c.9310G>A,N/A,Increased Function,19-39002961-G-A,N/A,19-38512321-G-A,N/A,FALSE -RYR1,c.11969G>T,N/A,Increased Function,19-39034472-G-T,N/A,19-38543832-G-T,N/A,FALSE -RYR1,c.14387A>G,N/A,Increased Function,19-39070644-A-G,N/A,19-38580004-A-G,N/A,FALSE -RYR1,c.14477C>T,N/A,Increased Function,19-39070734-C-T,N/A,19-38580094-C-T,N/A,FALSE -RYR1,c.14497C>T,N/A,Increased Function,19-39070754-C-T,N/A,19-38580114-C-T,N/A,FALSE -RYR1,c.14512C>G,N/A,Increased Function,19-39071010-C-G,N/A,19-38580370-C-G,N/A,FALSE -RYR1,c.14545G>A,N/A,Increased Function,19-39071043-G-A,N/A,19-38580403-G-A,N/A,FALSE -RYR1,c.14582G>A,N/A,Uncertain Function,19-39071080-G-A,N/A,19-38580440-G-A,N/A,FALSE -RYR1,c.14693T>C,N/A,Decreased Function,19-39075629-T-C,N/A,19-38584989-T-C,N/A,FALSE +RYR1,c.103T>C,N/A,Malignant Hyperthermia Associated,19-38931442-T-C,N/A,19-38440802-T-C,N/A,FALSE +RYR1,c.130C>T,N/A,Malignant Hyperthermia Associated,19-38931469-C-T,N/A,19-38440829-C-T,N/A,FALSE +RYR1,c.487C>T,N/A,Malignant Hyperthermia Associated,19-38934851-C-T,N/A,19-38444211-C-T,N/A,FALSE +RYR1,c.488G>T,N/A,Malignant Hyperthermia Associated,19-38934852-G-T,N/A,19-38444212-G-T,N/A,FALSE +RYR1,c.742G>A,N/A,Malignant Hyperthermia Associated,19-38937350-G-A,N/A,19-38446710-G-A,N/A,FALSE +RYR1,c.742G>C,N/A,Malignant Hyperthermia Associated,19-38937350-G-C,N/A,19-38446710-G-C,N/A,FALSE +RYR1,c.982C>T,N/A,Malignant Hyperthermia Associated,19-38939313-C-T,N/A,19-38448673-C-T,N/A,FALSE +RYR1,c.1021G>A,N/A,Malignant Hyperthermia Associated,19-38939352-G-A,N/A,19-38448712-G-A,N/A,FALSE +RYR1,c.1021G>C,N/A,Malignant Hyperthermia Associated,19-38939352-G-C,N/A,19-38448712-G-C,N/A,FALSE +RYR1,c.1201C>T,N/A,Malignant Hyperthermia Associated,19-38942482-C-T,N/A,19-38451842-C-T,N/A,FALSE +RYR1,c.1209C>G,N/A,Malignant Hyperthermia Associated,19-38942490-C-G,N/A,19-38451850-C-G,N/A,FALSE +RYR1,c.1565A>C,N/A,Malignant Hyperthermia Associated,19-38945999-A-C,N/A,19-38455359-A-C,N/A,FALSE +RYR1,c.1589G>A,N/A,Uncertain Function,19-38946103-G-A,N/A,19-38455463-G-A,N/A,FALSE +RYR1,c.1597C>T,N/A,Malignant Hyperthermia Associated,19-38946111-C-T,N/A,19-38455471-C-T,N/A,FALSE +RYR1,c.1598G>A,N/A,Uncertain Function,19-38946112-G-A,N/A,19-38455472-G-A,N/A,FALSE +RYR1,c.1654C>T,N/A,Malignant Hyperthermia Associated,19-38946168-C-T,N/A,19-38455528-C-T,N/A,FALSE +RYR1,c.1840C>T,N/A,Malignant Hyperthermia Associated,19-38948185-C-T,N/A,19-38457545-C-T,N/A,FALSE +RYR1,c.1841G>T,N/A,Malignant Hyperthermia Associated,19-38948186-G-T,N/A,19-38457546-G-T,N/A,FALSE +RYR1,c.6487C>T,N/A,Malignant Hyperthermia Associated,19-38985204-C-T,N/A,19-38494564-C-T,N/A,FALSE +RYR1,c.6488G>A,N/A,Malignant Hyperthermia Associated,19-38985205-G-A,N/A,19-38494565-G-A,N/A,FALSE +RYR1,c.6502G>A,N/A,Malignant Hyperthermia Associated,19-38985219-G-A,N/A,19-38494579-G-A,N/A,FALSE +RYR1,c.6617C>G,N/A,Malignant Hyperthermia Associated,19-38986923-C-G,N/A,19-38496283-C-G,N/A,FALSE +RYR1,c.6617C>T,N/A,Malignant Hyperthermia Associated,19-38986923-C-T,N/A,19-38496283-C-T,N/A,FALSE +RYR1,c.7007G>A,N/A,Malignant Hyperthermia Associated,19-38989863-G-A,N/A,19-38499223-G-A,N/A,FALSE +RYR1,c.7039_7041delGAG,N/A,Malignant Hyperthermia Associated,19-38990284-TGGA-T,N/A,19-38499644-TGGA-T,N/A,FALSE +RYR1,c.7048G>A,N/A,Malignant Hyperthermia Associated,19-38990295-G-A,N/A,19-38499655-G-A,N/A,FALSE +RYR1,c.7063C>T,N/A,Malignant Hyperthermia Associated,19-38990310-C-T,N/A,19-38499670-C-T,N/A,FALSE +RYR1,c.7124G>C,N/A,Malignant Hyperthermia Associated,19-38990371-G-C,N/A,19-38499731-G-C,N/A,FALSE +RYR1,c.7282G>A,N/A,Malignant Hyperthermia Associated,19-38990615-G-A,N/A,19-38499975-G-A,N/A,FALSE +RYR1,c.7300G>A,N/A,Malignant Hyperthermia Associated,19-38990633-G-A,N/A,19-38499993-G-A,N/A,FALSE +RYR1,c.7304G>A,N/A,Malignant Hyperthermia Associated,19-38990637-G-A,N/A,19-38499997-G-A,N/A,FALSE +RYR1,c.7354C>T,N/A,Malignant 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+RYR1,c.14387A>G,N/A,Malignant Hyperthermia Associated,19-39070644-A-G,N/A,19-38580004-A-G,N/A,FALSE +RYR1,c.14477C>T,N/A,Malignant Hyperthermia Associated,19-39070734-C-T,N/A,19-38580094-C-T,N/A,FALSE +RYR1,c.14497C>T,N/A,Malignant Hyperthermia Associated,19-39070754-C-T,N/A,19-38580114-C-T,N/A,FALSE +RYR1,c.14512C>G,N/A,Malignant Hyperthermia Associated,19-39071010-C-G,N/A,19-38580370-C-G,N/A,FALSE +RYR1,c.14545G>A,N/A,Malignant Hyperthermia Associated,19-39071043-G-A,N/A,19-38580403-G-A,N/A,FALSE +RYR1,c.14582G>A,N/A,Malignant Hyperthermia Associated,19-39071080-G-A,N/A,19-38580440-G-A,N/A,FALSE +RYR1,c.14693T>C,N/A,Malignant Hyperthermia Associated,19-39075629-T-C,N/A,19-38584989-T-C,N/A,FALSE SLC15A2,*1,N/A,Normal Function,N/A,N/A,N/A,N/A,FALSE SLC15A2,*2,N/A,Unknown Function,"3-121643804-C-T,3-121647286-C-T,3-121648168-G-A",N/A,"3-121924957-C-T,3-121928439-C-T,3-121929321-G-A",N/A,FALSE SLC22A2,*1,N/A,Normal Function,"6-160645832-C-T,6-160670282-A-C",N/A,"6-160224800-C-T,6-160249250-A-C",N/A,FALSE diff --git a/pypgx/api/data/diplotype-table.csv b/pypgx/api/data/diplotype-table.csv index 9625b9e6..261bff03 100755 --- a/pypgx/api/data/diplotype-table.csv +++ b/pypgx/api/data/diplotype-table.csv @@ -1438,6 +1438,1231 @@ NUDT15,*5/*9,Possible Intermediate Metabolizer NUDT15,*6/*9,Possible Intermediate Metabolizer NUDT15,*7/*9,Possible Intermediate Metabolizer NUDT15,*8/*9,Possible Intermediate Metabolizer +RYR1,Reference/c.103T>C,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.130C>T,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.487C>T,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.488G>T,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.742G>A,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.742G>C,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.982C>T,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.1021G>A,Malignant Hyperthermia 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+RYR1,Reference/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,Reference/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.130C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.488G>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.742G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.742G>C,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.982C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.1021G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.1021G>C,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.1201C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.1209C>G,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.1565A>C,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.1589G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.103T>C/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.488G>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.742G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.742G>C,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.982C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.1021G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.1021G>C,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.1201C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.1209C>G,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.1565A>C,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.1589G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.130C>T/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.488G>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.742G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.742G>C,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.982C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.1021G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.1021G>C,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.1201C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.1209C>G,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.1565A>C,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.1589G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.487C>T/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.742G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.742G>C,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.982C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.1021G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.1021G>C,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.1201C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.1209C>G,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.1565A>C,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.1589G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.488G>T/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.742G>C,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.982C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.1021G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.1021G>C,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.1201C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.1209C>G,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.1565A>C,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.1589G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>A/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.982C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.1021G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.1021G>C,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.1201C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.1209C>G,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.1565A>C,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.1589G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.742G>C/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.1021G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.1021G>C,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.1201C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.1209C>G,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.1565A>C,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.1589G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.982C>T/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.1021G>C,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.1201C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.1209C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.1565A>C,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.1589G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>A/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.1201C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.1209C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.1565A>C,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.1589G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1021G>C/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.1209C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.1565A>C,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.1589G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1201C>T/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.1565A>C,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.1589G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1209C>G/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.1589G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1565A>C/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.1597C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.1598G>A,Uncertain Susceptibility +RYR1,c.1589G>A/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1589G>A/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.1598G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1597C>T/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.1654C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1598G>A/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.1840C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1654C>T/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.1841G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1840C>T/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.6487C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.1841G>T/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.6488G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6487C>T/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.6502G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6488G>A/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.6617C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6502G>A/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.6617C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>G/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.6617C>T/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7007G>A/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.14693T>C,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.9310G>A,Malignant 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Susceptibility +RYR1,c.7007G>A/c.7007G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7039_7041delGAG/c.7039_7041delGAG,Malignant Hyperthermia Susceptibility +RYR1,c.7048G>A/c.7048G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7063C>T/c.7063C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7124G>C/c.7124G>C,Malignant Hyperthermia Susceptibility +RYR1,c.7282G>A/c.7282G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7300G>A/c.7300G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7304G>A/c.7304G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7354C>T/c.7354C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7360C>T/c.7360C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7361G>A/c.7361G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7372C>T/c.7372C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7373G>A/c.7373G>A,Malignant Hyperthermia Susceptibility +RYR1,c.7522C>G/c.7522C>G,Malignant Hyperthermia Susceptibility +RYR1,c.7522C>T/c.7522C>T,Malignant Hyperthermia Susceptibility +RYR1,c.7523G>A/c.7523G>A,Malignant Hyperthermia Susceptibility +RYR1,c.9310G>A/c.9310G>A,Malignant Hyperthermia Susceptibility +RYR1,c.11969G>T/c.11969G>T,Malignant Hyperthermia Susceptibility +RYR1,c.14387A>G/c.14387A>G,Malignant Hyperthermia Susceptibility +RYR1,c.14477C>T/c.14477C>T,Malignant Hyperthermia Susceptibility +RYR1,c.14497C>T/c.14497C>T,Malignant Hyperthermia Susceptibility +RYR1,c.14512C>G/c.14512C>G,Malignant Hyperthermia Susceptibility +RYR1,c.14545G>A/c.14545G>A,Malignant Hyperthermia Susceptibility +RYR1,c.14582G>A/c.14582G>A,Malignant Hyperthermia Susceptibility +RYR1,c.14693T>C/c.14693T>C,Malignant Hyperthermia Susceptibility SLCO1B1,*1A/*1A,Normal Function SLCO1B1,*1A/*1B,Normal Function SLCO1B1,*1A/*2,Possible Decreased Function diff --git a/pypgx/api/data/gene-table.csv b/pypgx/api/data/gene-table.csv index 1219bce4..b126c0b1 100644 --- a/pypgx/api/data/gene-table.csv +++ b/pypgx/api/data/gene-table.csv @@ -44,7 +44,7 @@ NAT2,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*4,*12,*12,+,8:18245791-18261728,8:18 NUDT15,TRUE,FALSE,N/A,TRUE,FALSE,Diplotype,8/18/21,5.0.1,*1,*1,*1,+,13:48608702-48624364,13:48034725-48050221,"48611702,48615055,48619795,","48612040,48615252,48621364,","48037725,48040919,48045659,","48037904,48041116,48047221," POR,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*1,*1,*1,+,7:75541419-75619173,7:75912154-75989855,"75544419,75583306,75601730,75608768,75609656,75610365,75610834,75611541,75612837,75613055,75614094,75614375,75614896,75615240,75615476,75615654,","75544497,75583498,75601779,75608897,75609806,75610490,75610924,75611640,75612954,75613174,75614276,75614525,75615167,75615386,75615559,75616173,","75915154,75953988,75972412,75979450,75980338,75981047,75981516,75982223,75983519,75983737,75984776,75985057,75985578,75985922,75986158,75986336,","75915179,75954180,75972461,75979579,75980488,75981172,75981606,75982322,75983636,75983856,75984958,75985207,75985849,75986068,75986241,75986855," PTGIS,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*1,*1,*1,-,20:48117410-48187674,20:49500873-49571137,"48120410,48127564,48129616,48130763,48140594,48156106,48160841,48164377,48166602,48184579,","48124601,48127716,48129798,48130932,48140776,48156258,48160985,48164556,48166726,48184674,","49503873,49511027,49513079,49514226,49524057,49539569,49544304,49547840,49550065,49568042,","49508064,49511179,49513261,49514395,49524239,49539721,49544448,49548019,49550189,49568137," -RYR1,TRUE,TRUE,N/A,TRUE,FALSE,N/A,8/28/21,N/A,Reference,Reference,Reference,+,19:38921339-39081204,19:38430690-38590564,"38924339,38931384,38932988,38934197,38934357,38934788,38935223,38937111,38937333,38938994,38939288,38942403,38943458,38945874,38946090,38946272,38948136,38948690,38949785,38951014,38954062,38954386,38955278,38956730,38958249,38959605,38959944,38964016,38965957,38968349,38969074,38973666,38973929,38976229,38979816,38980715,38981260,38983129,38984991,38986854,38987048,38987499,38989747,38990274,38990547,38991245,38991460,38993146,38993519,38994859,38995387,38995642,38995948,38996445,38996942,38997110,38997468,38998351,39001137,39001299,39002200,39002711,39002884,39005665,39006726,39007998,39009853,39013667,39013856,39014554,39015971,39017632,39018286,39018945,39019238,39019590,39023129,39023310,39025359,39025780,39025955,39026636,39027389,39028519,39033986,39034171,39034410,39037084,39038872,39051752,39055598,39057550,39058412,39061246,39062658,39063816,39066558,39068557,39068783,39070621,39071009,39075582,39076577,39076730,39077164,39077964,","38924514,38931504,38933093,38934272,38934436,38934901,38935317,38937205,38937408,38939151,38939453,38942525,38943654,38946010,38946186,38946391,38948270,38948932,38949978,38951231,38954167,38954490,38955362,38957038,38958452,38959780,38960153,38964411,38966090,38968510,38969240,38973753,38974156,38976842,38980083,38980916,38981372,38983276,38985265,38986969,38987181,38987594,38989883,38990461,38990656,38991366,38991630,38993367,38993610,38995000,38995551,38995721,38996038,38996586,38997017,38997186,38997592,38998467,39001205,39001421,39002250,39002772,39003123,39005747,39006857,39008331,39010094,39013755,39013949,39014569,39016142,39017692,39018424,39019058,39019335,39019697,39023181,39023376,39025459,39025860,39026032,39026710,39027407,39028600,39034075,39034300,39034515,39037166,39039060,39052094,39056411,39057627,39058557,39061333,39062910,39063947,39066601,39068688,39068844,39070768,39071144,39075739,39076642,39076831,39077216,39078204,","38433690,38440744,38442348,38443557,38443717,38444148,38444583,38446471,38446693,38448354,38448648,38451763,38452818,38455234,38455450,38455632,38457496,38458050,38459145,38460374,38463422,38463746,38464638,38466090,38467609,38468965,38469304,38473376,38475317,38477709,38478434,38483026,38483289,38485589,38489176,38490075,38490620,38492489,38494351,38496214,38496408,38496859,38499107,38499634,38499907,38500605,38500820,38502506,38502879,38504219,38504747,38505002,38505308,38505805,38506302,38506470,38506828,38507711,38510497,38510659,38511560,38512071,38512244,38515025,38516086,38517358,38519213,38523027,38523216,38523914,38525331,38526992,38527646,38528305,38528598,38528950,38532489,38532670,38534719,38535140,38535315,38535996,38536749,38537879,38543346,38543531,38543770,38546444,38548232,38561112,38564958,38566910,38567772,38570606,38572018,38573176,38575918,38577917,38578143,38579981,38580369,38584942,38585937,38586090,38586524,38587324,","38433874,38440864,38442453,38443632,38443796,38444261,38444677,38446565,38446768,38448511,38448813,38451885,38453014,38455370,38455546,38455751,38457630,38458292,38459338,38460591,38463527,38463850,38464722,38466398,38467812,38469140,38469513,38473771,38475450,38477870,38478600,38483113,38483516,38486202,38489443,38490276,38490732,38492636,38494625,38496329,38496541,38496954,38499243,38499821,38500016,38500726,38500990,38502727,38502970,38504360,38504911,38505081,38505398,38505946,38506377,38506546,38506952,38507827,38510565,38510781,38511610,38512132,38512483,38515107,38516217,38517691,38519454,38523115,38523309,38523929,38525502,38527052,38527784,38528418,38528695,38529057,38532541,38532736,38534819,38535220,38535392,38536070,38536767,38537960,38543435,38543660,38543875,38546526,38548420,38561454,38565771,38566987,38567917,38570693,38572270,38573307,38575961,38578048,38578204,38580128,38580504,38585099,38586002,38586191,38586576,38587564," +RYR1,TRUE,TRUE,N/A,TRUE,FALSE,Diplotype,8/28/21,N/A,Reference,Reference,Reference,+,19:38921339-39081204,19:38430690-38590564,"38924339,38931384,38932988,38934197,38934357,38934788,38935223,38937111,38937333,38938994,38939288,38942403,38943458,38945874,38946090,38946272,38948136,38948690,38949785,38951014,38954062,38954386,38955278,38956730,38958249,38959605,38959944,38964016,38965957,38968349,38969074,38973666,38973929,38976229,38979816,38980715,38981260,38983129,38984991,38986854,38987048,38987499,38989747,38990274,38990547,38991245,38991460,38993146,38993519,38994859,38995387,38995642,38995948,38996445,38996942,38997110,38997468,38998351,39001137,39001299,39002200,39002711,39002884,39005665,39006726,39007998,39009853,39013667,39013856,39014554,39015971,39017632,39018286,39018945,39019238,39019590,39023129,39023310,39025359,39025780,39025955,39026636,39027389,39028519,39033986,39034171,39034410,39037084,39038872,39051752,39055598,39057550,39058412,39061246,39062658,39063816,39066558,39068557,39068783,39070621,39071009,39075582,39076577,39076730,39077164,39077964,","38924514,38931504,38933093,38934272,38934436,38934901,38935317,38937205,38937408,38939151,38939453,38942525,38943654,38946010,38946186,38946391,38948270,38948932,38949978,38951231,38954167,38954490,38955362,38957038,38958452,38959780,38960153,38964411,38966090,38968510,38969240,38973753,38974156,38976842,38980083,38980916,38981372,38983276,38985265,38986969,38987181,38987594,38989883,38990461,38990656,38991366,38991630,38993367,38993610,38995000,38995551,38995721,38996038,38996586,38997017,38997186,38997592,38998467,39001205,39001421,39002250,39002772,39003123,39005747,39006857,39008331,39010094,39013755,39013949,39014569,39016142,39017692,39018424,39019058,39019335,39019697,39023181,39023376,39025459,39025860,39026032,39026710,39027407,39028600,39034075,39034300,39034515,39037166,39039060,39052094,39056411,39057627,39058557,39061333,39062910,39063947,39066601,39068688,39068844,39070768,39071144,39075739,39076642,39076831,39077216,39078204,","38433690,38440744,38442348,38443557,38443717,38444148,38444583,38446471,38446693,38448354,38448648,38451763,38452818,38455234,38455450,38455632,38457496,38458050,38459145,38460374,38463422,38463746,38464638,38466090,38467609,38468965,38469304,38473376,38475317,38477709,38478434,38483026,38483289,38485589,38489176,38490075,38490620,38492489,38494351,38496214,38496408,38496859,38499107,38499634,38499907,38500605,38500820,38502506,38502879,38504219,38504747,38505002,38505308,38505805,38506302,38506470,38506828,38507711,38510497,38510659,38511560,38512071,38512244,38515025,38516086,38517358,38519213,38523027,38523216,38523914,38525331,38526992,38527646,38528305,38528598,38528950,38532489,38532670,38534719,38535140,38535315,38535996,38536749,38537879,38543346,38543531,38543770,38546444,38548232,38561112,38564958,38566910,38567772,38570606,38572018,38573176,38575918,38577917,38578143,38579981,38580369,38584942,38585937,38586090,38586524,38587324,","38433874,38440864,38442453,38443632,38443796,38444261,38444677,38446565,38446768,38448511,38448813,38451885,38453014,38455370,38455546,38455751,38457630,38458292,38459338,38460591,38463527,38463850,38464722,38466398,38467812,38469140,38469513,38473771,38475450,38477870,38478600,38483113,38483516,38486202,38489443,38490276,38490732,38492636,38494625,38496329,38496541,38496954,38499243,38499821,38500016,38500726,38500990,38502727,38502970,38504360,38504911,38505081,38505398,38505946,38506377,38506546,38506952,38507827,38510565,38510781,38511610,38512132,38512483,38515107,38516217,38517691,38519454,38523115,38523309,38523929,38525502,38527052,38527784,38528418,38528695,38529057,38532541,38532736,38534819,38535220,38535392,38536070,38536767,38537960,38543435,38543660,38543875,38546526,38548420,38561454,38565771,38566987,38567917,38570693,38572270,38573307,38575961,38578048,38578204,38580128,38580504,38585099,38586002,38586191,38586576,38587564," SLC15A2,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*1,*1,*1,+,3:121610170-121666034,3:121891400-121947188,"121613170,121615252,121616234,121630420,121631867,121634073,121634462,121641066,121641621,121641886,121642068,121643197,121643791,121646604,121647267,121647828,121648148,121649686,121650485,121658195,121659230,121659677,","121613428,121615340,121616376,121630513,121631967,121634164,121634540,121641149,121641708,121641976,121642113,121643230,121643880,121646686,121647402,121647993,121648195,121649797,121650582,121658342,121659335,121663034,","121894400,121896405,121897387,121911573,121913020,121915226,121915615,121922219,121922774,121923039,121923221,121924350,121924944,121927757,121928420,121928981,121929301,121930839,121931638,121939348,121940383,121940830,","121894581,121896493,121897529,121911666,121913120,121915317,121915693,121922302,121922861,121923129,121923266,121924383,121925033,121927839,121928555,121929146,121929348,121930950,121931735,121939495,121940488,121944188," SLC22A2,TRUE,FALSE,N/A,TRUE,TRUE,N/A,N/A,N/A,*1,*3,*3,-,6:160627793-160689963,6:160213754-160261821,"160637793,160645736,160662505,160663325,160664603,160666470,160668215,160670247,160671579,160677645,160679375,","160638530,160645836,160662618,160663434,160664818,160666577,160668330,160670416,160671734,160677749,160679963,","160216754,160224704,160241473,160242293,160243571,160245438,160247183,160249215,160250547,160256613,160258343,","160217498,160224804,160241586,160242402,160243786,160245545,160247298,160249384,160250702,160256717,160258821," SLCO1B1,TRUE,FALSE,N/A,TRUE,FALSE,Diplotype,8/18/21,N/A,*1A,*1A,*1A,+,12:21281127-21395730,12:21128193-21242796,"21284127,21294447,21325583,21327510,21329709,21331509,21331855,21349879,21353441,21355424,21358801,21370052,21375233,21377655,21391912,","21284170,21294592,21325725,21327643,21329831,21331656,21331954,21350122,21353606,21355620,21358967,21370237,21375298,21377773,21392730,","21131193,21141513,21172649,21174576,21176775,21178575,21178921,21196945,21200507,21202490,21205867,21217118,21222299,21224721,21238978,","21131236,21141658,21172791,21174709,21176897,21178722,21179020,21197188,21200672,21202686,21206033,21217303,21222364,21224839,21239796," diff --git a/pypgx/api/data/phenotype-table.csv b/pypgx/api/data/phenotype-table.csv index c6a7d7e3..a42f079a 100644 --- a/pypgx/api/data/phenotype-table.csv +++ b/pypgx/api/data/phenotype-table.csv @@ -41,6 +41,8 @@ NUDT15,Poor Metabolizer,Abnormal/Priority/High Risk NUDT15,Normal Metabolizer,Normal/Routine/Low risk NUDT15,Intermediate Metabolizer,Abnormal/Priority/High Risk NUDT15,Indeterminate,Abnormal/Priority/High Risk +RYR1,Uncertain Susceptibility,Normal Risk +RYR1,Malignant Hyperthermia Susceptibility,Abnormal/Priority/High Risk SLCO1B1,Normal Function,Normal/Routine/Low Risk SLCO1B1,Decreased Function,Abnormal/Priority/High Risk SLCO1B1,Poor Function,Abnormal/Priority/High Risk From 2f17cb1f08da3ce874a3d5a5b89de22d6964e65e Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen Date: Sun, 12 Dec 2021 09:24:28 +0700 Subject: [PATCH 14/66] Update CFTR phenotype --- CHANGELOG.rst | 2 +- docs/genes.rst | 32 +- pypgx/api/data/diplotype-table.csv | 1683 +++++++++++++++++++++++++++- pypgx/api/data/gene-table.csv | 2 +- pypgx/api/data/phenotype-table.csv | 4 + 5 files changed, 1718 insertions(+), 5 deletions(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index c64795e7..110f1ad0 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -10,7 +10,7 @@ Changelog * Update :meth:`api.plot.plot_vcf_allele_fraction` method to accept both VcfFrame[Imported] and VcfFrame[Consolidated] * :issue:`32`: Update :command:`run-ngs-pipeline` method to accept phased VCF as input. In this case, the method will skip statistical haplotype phasing. * :issue:`34`: Update commands :command:`run-ngs-pipeline` and :command:`run-chip-pipeline` to load large VCF files significantly faster by allowing random access. This also means, from now on, input VCF files must be BGZF compressed (.gz) and indexed (.tbi). -* :issue:`36`: Update phenotype data for CACNA1S, IFNL3, RYR1. +* :issue:`36`: Update phenotype data for CACNA1S, IFNL3, RYR1, CFTR. 0.9.0 (2021-12-05) ------------------ diff --git a/docs/genes.rst b/docs/genes.rst index 5e82d2aa..1124f599 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -36,8 +36,8 @@ Below is a summary table: - * - CFTR - - - - - + - ✅ + - * - CYP1A1 - - @@ -279,6 +279,34 @@ Resources for CACNA1S - `Annotation of CPIC Guideline for desflurane and CACNA1S, RYR1 `__ - `CPIC® Guideline for Potent Volatile Anesthetic Agents and Succinylcholine and RYR1 and CACNA1S `__ +CFTR +===== + +Phenotype summary for CFTR +----------------------------- + +Diplotype-phenotype mapping is used for phenotype prediction. + + .. list-table:: + :header-rows: 1 + + * - Phenotype + - Example + * - Increased open channel probability + - G551D/Reference + * - No change in open channel probability + - F508del/F508del + * - Significantly enhanced channel open probability + - S1251N/F508del + * - Indeterminate + - F508del/Reference + +Resources for CFTR +--------------------- + +- `Annotation of CPIC Guideline for ivacaftor and CFTR `__ +- `CPIC® Guideline for Ivacaftor and CFTR `__ + CYP2A6 ====== diff --git a/pypgx/api/data/diplotype-table.csv b/pypgx/api/data/diplotype-table.csv index 261bff03..1116d6ab 100755 --- a/pypgx/api/data/diplotype-table.csv +++ b/pypgx/api/data/diplotype-table.csv @@ -4356,4 +4356,1685 @@ UGT1A1,*28/*80+*37,Poor Metabolizer UGT1A1,*36/*80+*37,Intermediate Metabolizer UGT1A1,*37/*80+*37,Poor Metabolizer UGT1A1,*80/*80+*37,Indeterminate -UGT1A1,*80+*37/*80+*37,Poor Metabolizer \ No newline at end of file +UGT1A1,*80+*37/*80+*37,Poor Metabolizer +CFTR,Reference/Reference,Indeterminate +CFTR,Reference/F508del,Indeterminate +CFTR,Reference/2789+5G->A,Significantly enhanced channel open probability +CFTR,Reference/3272-26A->G,Significantly enhanced channel open probability +CFTR,Reference/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,Reference/711+3A->G,Significantly enhanced channel open probability +CFTR,Reference/A1067T,Significantly enhanced channel open probability +CFTR,Reference/A455E,Significantly enhanced channel open probability +CFTR,Reference/D110E,Significantly enhanced channel open probability +CFTR,Reference/D110H,Significantly enhanced channel open probability +CFTR,Reference/D1152H,Significantly enhanced channel open probability +CFTR,Reference/D1270N,Significantly enhanced channel open probability +CFTR,Reference/D579G,Significantly enhanced channel open probability +CFTR,Reference/E193K,Significantly enhanced channel open probability +CFTR,Reference/E56K,Significantly enhanced channel open probability +CFTR,Reference/E831X,Significantly enhanced channel open probability +CFTR,Reference/F1052V,Significantly enhanced channel open probability +CFTR,Reference/F1074L,Significantly enhanced channel open probability +CFTR,Reference/G1069R,Significantly enhanced channel open probability +CFTR,Reference/G1244E,Significantly enhanced channel open probability +CFTR,Reference/G1349D,Significantly enhanced channel open probability +CFTR,Reference/G178R,Significantly enhanced channel open probability +CFTR,Reference/G551D,Increased open channel probability +CFTR,Reference/G551S,Significantly enhanced channel open probability +CFTR,Reference/K1060T,Significantly enhanced channel open probability +CFTR,Reference/L206W,Significantly enhanced channel open probability +CFTR,Reference/P67L,Significantly enhanced channel open probability +CFTR,Reference/R1070Q,Significantly enhanced channel open probability +CFTR,Reference/R1070W,Significantly enhanced channel open probability +CFTR,Reference/R117C,Significantly enhanced channel open probability +CFTR,Reference/R117H,Significantly enhanced channel open probability +CFTR,Reference/R347H,Significantly enhanced channel open probability +CFTR,Reference/R352Q,Significantly enhanced channel open probability +CFTR,Reference/R74W,Significantly enhanced channel open probability +CFTR,Reference/S1251N,Significantly enhanced channel open probability +CFTR,Reference/S1255P,Significantly enhanced channel open probability +CFTR,Reference/S549N,Significantly enhanced channel open probability +CFTR,Reference/S549R(A>C),Significantly enhanced channel open probability +CFTR,Reference/S549R(T>G),Significantly enhanced channel open probability +CFTR,Reference/S945L,Significantly enhanced channel open probability +CFTR,Reference/S977F,Significantly enhanced channel open probability +CFTR,Reference/F508del,Indeterminate +CFTR,F508del/F508del,No change in open channel probability +CFTR,F508del/2789+5G->A,Significantly enhanced channel open probability +CFTR,F508del/3272-26A->G,Significantly enhanced channel open probability +CFTR,F508del/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,F508del/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/F508del,Significantly enhanced channel open probability +CFTR,A455E/F508del,Significantly enhanced channel open probability +CFTR,D110E/F508del,Significantly enhanced channel open probability +CFTR,D110H/F508del,Significantly enhanced channel open probability +CFTR,D1152H/F508del,Significantly enhanced channel open probability +CFTR,D1270N/F508del,Significantly enhanced channel open probability +CFTR,D579G/F508del,Significantly enhanced channel open probability +CFTR,E193K/F508del,Significantly enhanced channel open probability +CFTR,E56K/F508del,Significantly enhanced channel open probability +CFTR,E831X/F508del,Significantly enhanced channel open probability +CFTR,F1052V/F508del,Significantly enhanced channel open probability +CFTR,F1074L/F508del,Significantly enhanced channel open probability +CFTR,G1069R/F508del,Significantly enhanced channel open probability +CFTR,G1244E/F508del,Significantly enhanced channel open probability +CFTR,G1349D/F508del,Significantly enhanced channel open probability +CFTR,G178R/F508del,Significantly enhanced channel open probability +CFTR,G551D/F508del,Increased open channel probability +CFTR,G551S/F508del,Significantly enhanced channel open probability +CFTR,K1060T/F508del,Significantly enhanced channel open probability +CFTR,L206W/F508del,Significantly enhanced channel open probability +CFTR,P67L/F508del,Significantly enhanced channel open probability +CFTR,R1070Q/F508del,Significantly enhanced channel open probability +CFTR,R1070W/F508del,Significantly enhanced channel open probability +CFTR,R117C/F508del,Significantly enhanced channel open probability +CFTR,R117H/F508del,Significantly enhanced channel open probability +CFTR,R347H/F508del,Significantly enhanced channel open probability +CFTR,R352Q/F508del,Significantly enhanced channel open probability +CFTR,R74W/F508del,Significantly enhanced channel open probability +CFTR,S1251N/F508del,Significantly enhanced channel open probability +CFTR,S1255P/F508del,Significantly enhanced channel open probability +CFTR,S549N/F508del,Significantly enhanced channel open probability +CFTR,F508del/S549R(A>C),Significantly enhanced channel open probability +CFTR,F508del/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/F508del,Significantly enhanced channel open probability +CFTR,S977F/F508del,Significantly enhanced channel open probability +CFTR,Reference/2789+5G->A,Significantly enhanced channel open probability +CFTR,F508del/2789+5G->A,Significantly enhanced channel open probability +CFTR,2789+5G->A/2789+5G->A,Significantly enhanced channel open probability +CFTR,2789+5G->A/3272-26A->G,Significantly enhanced channel open probability +CFTR,2789+5G->A/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,711+3A->G/2789+5G->A,Significantly enhanced channel open probability +CFTR,A1067T/2789+5G->A,Significantly enhanced channel open probability +CFTR,A455E/2789+5G->A,Significantly enhanced channel open probability +CFTR,D110E/2789+5G->A,Significantly enhanced channel open probability +CFTR,D110H/2789+5G->A,Significantly enhanced channel open probability +CFTR,D1152H/2789+5G->A,Significantly enhanced channel open probability +CFTR,D1270N/2789+5G->A,Significantly enhanced channel open probability +CFTR,D579G/2789+5G->A,Significantly enhanced channel open probability +CFTR,E193K/2789+5G->A,Significantly enhanced channel open probability +CFTR,E56K/2789+5G->A,Significantly enhanced channel open probability +CFTR,E831X/2789+5G->A,Significantly enhanced channel open probability +CFTR,F1052V/2789+5G->A,Significantly enhanced channel open probability +CFTR,F1074L/2789+5G->A,Significantly enhanced channel open probability +CFTR,G1069R/2789+5G->A,Significantly enhanced channel open probability +CFTR,G1244E/2789+5G->A,Significantly enhanced channel open probability +CFTR,G1349D/2789+5G->A,Significantly enhanced channel open probability +CFTR,G178R/2789+5G->A,Significantly enhanced channel open probability +CFTR,G551D/2789+5G->A,Increased open channel probability +CFTR,G551S/2789+5G->A,Significantly enhanced channel open probability +CFTR,K1060T/2789+5G->A,Significantly enhanced channel open probability +CFTR,L206W/2789+5G->A,Significantly enhanced channel open probability +CFTR,P67L/2789+5G->A,Significantly enhanced channel open probability +CFTR,R1070Q/2789+5G->A,Significantly enhanced channel open probability +CFTR,R1070W/2789+5G->A,Significantly enhanced channel open probability +CFTR,R117C/2789+5G->A,Significantly enhanced channel open probability +CFTR,R117H/2789+5G->A,Significantly enhanced channel open probability +CFTR,R347H/2789+5G->A,Significantly enhanced channel open probability +CFTR,R352Q/2789+5G->A,Significantly enhanced channel open probability +CFTR,R74W/2789+5G->A,Significantly enhanced channel open probability +CFTR,S1251N/2789+5G->A,Significantly enhanced channel open probability +CFTR,S1255P/2789+5G->A,Significantly enhanced channel open probability +CFTR,S549N/2789+5G->A,Significantly enhanced channel open probability +CFTR,2789+5G->A/S549R(A>C),Significantly enhanced channel open probability +CFTR,2789+5G->A/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/2789+5G->A,Significantly enhanced channel open probability +CFTR,S977F/2789+5G->A,Significantly enhanced channel open probability +CFTR,Reference/3272-26A->G,Significantly enhanced channel open probability +CFTR,F508del/3272-26A->G,Significantly enhanced channel open probability +CFTR,2789+5G->A/3272-26A->G,Significantly enhanced channel open probability +CFTR,3272-26A->G/3272-26A->G,Significantly enhanced channel open probability +CFTR,3272-26A->G/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,711+3A->G/3272-26A->G,Significantly enhanced channel open probability +CFTR,A1067T/3272-26A->G,Significantly enhanced channel open probability +CFTR,A455E/3272-26A->G,Significantly enhanced channel open probability +CFTR,D110E/3272-26A->G,Significantly enhanced channel open probability +CFTR,D110H/3272-26A->G,Significantly enhanced channel open probability +CFTR,D1152H/3272-26A->G,Significantly enhanced channel open probability +CFTR,D1270N/3272-26A->G,Significantly enhanced channel open probability +CFTR,D579G/3272-26A->G,Significantly enhanced channel open probability +CFTR,E193K/3272-26A->G,Significantly enhanced channel open probability +CFTR,E56K/3272-26A->G,Significantly enhanced channel open probability +CFTR,E831X/3272-26A->G,Significantly enhanced channel open probability +CFTR,F1052V/3272-26A->G,Significantly enhanced channel open probability +CFTR,F1074L/3272-26A->G,Significantly enhanced channel open probability +CFTR,G1069R/3272-26A->G,Significantly enhanced channel open probability +CFTR,G1244E/3272-26A->G,Significantly enhanced channel open probability +CFTR,G1349D/3272-26A->G,Significantly enhanced channel open probability +CFTR,G178R/3272-26A->G,Significantly enhanced channel open probability +CFTR,G551D/3272-26A->G,Increased open channel probability +CFTR,G551S/3272-26A->G,Significantly enhanced channel open probability +CFTR,K1060T/3272-26A->G,Significantly enhanced channel open probability +CFTR,L206W/3272-26A->G,Significantly enhanced channel open probability +CFTR,P67L/3272-26A->G,Significantly enhanced channel open probability +CFTR,R1070Q/3272-26A->G,Significantly enhanced channel open probability +CFTR,R1070W/3272-26A->G,Significantly enhanced channel open probability +CFTR,R117C/3272-26A->G,Significantly enhanced channel open probability +CFTR,R117H/3272-26A->G,Significantly enhanced channel open probability +CFTR,R347H/3272-26A->G,Significantly enhanced channel open probability +CFTR,R352Q/3272-26A->G,Significantly enhanced channel open probability +CFTR,R74W/3272-26A->G,Significantly enhanced channel open probability +CFTR,S1251N/3272-26A->G,Significantly enhanced channel open probability +CFTR,S1255P/3272-26A->G,Significantly enhanced channel open probability +CFTR,S549N/3272-26A->G,Significantly enhanced channel open probability +CFTR,S549R(A>C)/3272-26A->G,Significantly enhanced channel open probability +CFTR,S549R(T>G)/3272-26A->G,Significantly enhanced channel open probability +CFTR,S945L/3272-26A->G,Significantly enhanced channel open probability +CFTR,S977F/3272-26A->G,Significantly enhanced channel open probability +CFTR,Reference/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,F508del/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,2789+5G->A/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,3272-26A->G/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,3849+10kbC->T/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,711+3A->G/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,A1067T/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,A455E/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,D110E/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,D110H/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,D1152H/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,D1270N/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,D579G/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,E193K/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,E56K/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,E831X/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,F1052V/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,F1074L/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,G1069R/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,G1244E/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,G1349D/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,G178R/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,G551D/3849+10kbC->T,Increased open channel probability +CFTR,G551S/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,K1060T/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,L206W/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,P67L/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R1070Q/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R1070W/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R117C/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R117H/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R347H/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R352Q/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R74W/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,S1251N/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,S1255P/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,S549N/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,S549R(A>C)/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,S549R(T>G)/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,S945L/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,S977F/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,Reference/711+3A->G,Significantly enhanced channel open probability +CFTR,F508del/711+3A->G,Significantly enhanced channel open probability +CFTR,711+3A->G/2789+5G->A,Significantly enhanced channel open probability +CFTR,711+3A->G/3272-26A->G,Significantly enhanced channel open probability +CFTR,711+3A->G/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,711+3A->G/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/711+3A->G,Significantly enhanced channel open probability +CFTR,A455E/711+3A->G,Significantly enhanced channel open probability +CFTR,D110E/711+3A->G,Significantly enhanced channel open probability +CFTR,D110H/711+3A->G,Significantly enhanced channel open probability +CFTR,D1152H/711+3A->G,Significantly enhanced channel open probability +CFTR,D1270N/711+3A->G,Significantly enhanced channel open probability +CFTR,D579G/711+3A->G,Significantly enhanced channel open probability +CFTR,E193K/711+3A->G,Significantly enhanced channel open probability +CFTR,E56K/711+3A->G,Significantly enhanced channel open probability +CFTR,E831X/711+3A->G,Significantly enhanced channel open probability +CFTR,F1052V/711+3A->G,Significantly enhanced channel open probability +CFTR,F1074L/711+3A->G,Significantly enhanced channel open probability +CFTR,G1069R/711+3A->G,Significantly enhanced channel open probability +CFTR,G1244E/711+3A->G,Significantly enhanced channel open probability +CFTR,G1349D/711+3A->G,Significantly enhanced channel open probability +CFTR,G178R/711+3A->G,Significantly enhanced channel open probability +CFTR,G551D/711+3A->G,Increased open channel probability +CFTR,G551S/711+3A->G,Significantly enhanced channel open probability +CFTR,K1060T/711+3A->G,Significantly enhanced channel open probability +CFTR,L206W/711+3A->G,Significantly enhanced channel open probability +CFTR,P67L/711+3A->G,Significantly enhanced channel open probability +CFTR,R1070Q/711+3A->G,Significantly enhanced channel open probability +CFTR,R1070W/711+3A->G,Significantly enhanced channel open probability +CFTR,R117C/711+3A->G,Significantly enhanced channel open probability +CFTR,R117H/711+3A->G,Significantly enhanced channel open probability +CFTR,R347H/711+3A->G,Significantly enhanced channel open probability +CFTR,R352Q/711+3A->G,Significantly enhanced channel open probability +CFTR,R74W/711+3A->G,Significantly enhanced channel open probability +CFTR,S1251N/711+3A->G,Significantly enhanced channel open probability +CFTR,S1255P/711+3A->G,Significantly enhanced channel open probability +CFTR,S549N/711+3A->G,Significantly enhanced channel open probability +CFTR,711+3A->G/S549R(A>C),Significantly enhanced channel open probability +CFTR,711+3A->G/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/711+3A->G,Significantly enhanced channel open probability +CFTR,S977F/711+3A->G,Significantly enhanced channel open probability +CFTR,Reference/A1067T,Significantly enhanced channel open probability +CFTR,A1067T/F508del,Significantly enhanced channel open probability +CFTR,A1067T/2789+5G->A,Significantly enhanced channel open probability +CFTR,A1067T/3272-26A->G,Significantly enhanced channel open probability +CFTR,A1067T/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,A1067T/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/A1067T,Significantly enhanced channel open probability +CFTR,A455E/A1067T,Significantly enhanced channel open probability +CFTR,D110E/A1067T,Significantly enhanced channel open probability +CFTR,D110H/A1067T,Significantly enhanced channel open probability +CFTR,A1067T/D1152H,Significantly enhanced channel open probability +CFTR,A1067T/D1270N,Significantly enhanced channel open probability +CFTR,D579G/A1067T,Significantly enhanced channel open probability +CFTR,E193K/A1067T,Significantly enhanced channel open probability +CFTR,E56K/A1067T,Significantly enhanced channel open probability +CFTR,E831X/A1067T,Significantly enhanced channel open probability +CFTR,A1067T/F1052V,Significantly enhanced channel open probability +CFTR,A1067T/F1074L,Significantly enhanced channel open probability +CFTR,A1067T/G1069R,Significantly enhanced channel open probability +CFTR,A1067T/G1244E,Significantly enhanced channel open probability +CFTR,A1067T/G1349D,Significantly enhanced channel open probability +CFTR,G178R/A1067T,Significantly enhanced channel open probability +CFTR,G551D/A1067T,Increased open channel probability +CFTR,G551S/A1067T,Significantly enhanced channel open probability +CFTR,A1067T/K1060T,Significantly enhanced channel open probability +CFTR,L206W/A1067T,Significantly enhanced channel open probability +CFTR,P67L/A1067T,Significantly enhanced channel open probability +CFTR,A1067T/R1070Q,Significantly enhanced channel open probability +CFTR,A1067T/R1070W,Significantly enhanced channel open probability +CFTR,R117C/A1067T,Significantly enhanced channel open probability +CFTR,R117H/A1067T,Significantly enhanced channel open probability +CFTR,R347H/A1067T,Significantly enhanced channel open probability +CFTR,R352Q/A1067T,Significantly enhanced channel open probability +CFTR,R74W/A1067T,Significantly enhanced channel open probability +CFTR,A1067T/S1251N,Significantly enhanced channel open probability +CFTR,A1067T/S1255P,Significantly enhanced channel open probability +CFTR,S549N/A1067T,Significantly enhanced channel open probability +CFTR,A1067T/S549R(A>C),Significantly enhanced channel open probability +CFTR,A1067T/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/A1067T,Significantly enhanced channel open probability +CFTR,S977F/A1067T,Significantly enhanced channel open probability +CFTR,Reference/A455E,Significantly enhanced channel open probability +CFTR,A455E/F508del,Significantly enhanced channel open probability +CFTR,A455E/2789+5G->A,Significantly enhanced channel open probability +CFTR,A455E/3272-26A->G,Significantly enhanced channel open probability +CFTR,A455E/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,A455E/711+3A->G,Significantly enhanced channel open probability +CFTR,A455E/A1067T,Significantly enhanced channel open probability +CFTR,A455E/A455E,Significantly enhanced channel open probability +CFTR,A455E/D110E,Significantly enhanced channel open probability +CFTR,A455E/D110H,Significantly enhanced channel open probability +CFTR,A455E/D1152H,Significantly enhanced channel open probability +CFTR,A455E/D1270N,Significantly enhanced channel open probability +CFTR,A455E/D579G,Significantly enhanced channel open probability +CFTR,A455E/E193K,Significantly enhanced channel open probability +CFTR,E56K/A455E,Significantly enhanced channel open probability +CFTR,A455E/E831X,Significantly enhanced channel open probability +CFTR,A455E/F1052V,Significantly enhanced channel open probability +CFTR,A455E/F1074L,Significantly enhanced channel open probability +CFTR,A455E/G1069R,Significantly enhanced channel open probability +CFTR,A455E/G1244E,Significantly enhanced channel open probability +CFTR,A455E/G1349D,Significantly enhanced channel open probability +CFTR,A455E/G178R,Significantly enhanced channel open probability +CFTR,A455E/G551D,Increased open channel probability +CFTR,A455E/G551S,Significantly enhanced channel open probability +CFTR,A455E/K1060T,Significantly enhanced channel open probability +CFTR,A455E/L206W,Significantly enhanced channel open probability +CFTR,P67L/A455E,Significantly enhanced channel open probability +CFTR,A455E/R1070Q,Significantly enhanced channel open probability +CFTR,A455E/R1070W,Significantly enhanced channel open probability +CFTR,A455E/R117C,Significantly enhanced channel open probability +CFTR,A455E/R117H,Significantly enhanced channel open probability +CFTR,A455E/R347H,Significantly enhanced channel open probability +CFTR,A455E/R352Q,Significantly enhanced channel open probability +CFTR,R74W/A455E,Significantly enhanced channel open probability +CFTR,A455E/S1251N,Significantly enhanced channel open probability +CFTR,A455E/S1255P,Significantly enhanced channel open probability +CFTR,A455E/S549N,Significantly enhanced channel open probability +CFTR,A455E/S549R(A>C),Significantly enhanced channel open probability +CFTR,A455E/S549R(T>G),Significantly enhanced channel open probability +CFTR,A455E/S945L,Significantly enhanced channel open probability +CFTR,A455E/S977F,Significantly enhanced channel open probability +CFTR,Reference/D110E,Significantly enhanced channel open probability +CFTR,D110E/F508del,Significantly enhanced channel open probability +CFTR,D110E/2789+5G->A,Significantly enhanced channel open probability +CFTR,D110E/3272-26A->G,Significantly enhanced channel open probability +CFTR,D110E/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,D110E/711+3A->G,Significantly enhanced channel open probability +CFTR,D110E/A1067T,Significantly enhanced channel open probability +CFTR,A455E/D110E,Significantly enhanced channel open probability +CFTR,D110E/D110E,Significantly enhanced channel open probability +CFTR,D110E/D110H,Significantly enhanced channel open probability +CFTR,D110E/D1152H,Significantly enhanced channel open probability +CFTR,D110E/D1270N,Significantly enhanced channel open probability +CFTR,D110E/D579G,Significantly enhanced channel open probability +CFTR,D110E/E193K,Significantly enhanced channel open probability +CFTR,E56K/D110E,Significantly enhanced channel open probability +CFTR,D110E/E831X,Significantly enhanced channel open probability +CFTR,D110E/F1052V,Significantly enhanced channel open probability +CFTR,D110E/F1074L,Significantly enhanced channel open probability +CFTR,D110E/G1069R,Significantly enhanced channel open probability +CFTR,D110E/G1244E,Significantly enhanced channel open probability +CFTR,D110E/G1349D,Significantly enhanced channel open probability +CFTR,D110E/G178R,Significantly enhanced channel open probability +CFTR,D110E/G551D,Increased open channel probability +CFTR,D110E/G551S,Significantly enhanced channel open probability +CFTR,D110E/K1060T,Significantly enhanced channel open probability +CFTR,D110E/L206W,Significantly enhanced channel open probability +CFTR,P67L/D110E,Significantly enhanced channel open probability +CFTR,D110E/R1070Q,Significantly enhanced channel open probability +CFTR,D110E/R1070W,Significantly enhanced channel open probability +CFTR,D110E/R117C,Significantly enhanced channel open probability +CFTR,D110E/R117H,Significantly enhanced channel open probability +CFTR,D110E/R347H,Significantly enhanced channel open probability +CFTR,D110E/R352Q,Significantly enhanced channel open probability +CFTR,R74W/D110E,Significantly enhanced channel open probability +CFTR,D110E/S1251N,Significantly enhanced channel open probability +CFTR,D110E/S1255P,Significantly enhanced channel open probability +CFTR,D110E/S549N,Significantly enhanced channel open probability +CFTR,D110E/S549R(A>C),Significantly enhanced channel open probability +CFTR,D110E/S549R(T>G),Significantly enhanced channel open probability +CFTR,D110E/S945L,Significantly enhanced channel open probability +CFTR,D110E/S977F,Significantly enhanced channel open probability +CFTR,Reference/D110H,Significantly enhanced channel open probability +CFTR,D110H/F508del,Significantly enhanced channel open probability +CFTR,D110H/2789+5G->A,Significantly enhanced channel open probability +CFTR,D110H/3272-26A->G,Significantly enhanced channel open probability +CFTR,D110H/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,D110H/711+3A->G,Significantly enhanced channel open probability +CFTR,D110H/A1067T,Significantly enhanced channel open probability +CFTR,A455E/D110H,Significantly enhanced channel open probability +CFTR,D110E/D110H,Significantly enhanced channel open probability +CFTR,D110H/D110H,Significantly enhanced channel open probability +CFTR,D110H/D1152H,Significantly enhanced channel open probability +CFTR,D110H/D1270N,Significantly enhanced channel open probability +CFTR,D110H/D579G,Significantly enhanced channel open probability +CFTR,D110H/E193K,Significantly enhanced channel open probability +CFTR,E56K/D110H,Significantly enhanced channel open probability +CFTR,D110H/E831X,Significantly enhanced channel open probability +CFTR,D110H/F1052V,Significantly enhanced channel open probability +CFTR,D110H/F1074L,Significantly enhanced channel open probability +CFTR,D110H/G1069R,Significantly enhanced channel open probability +CFTR,D110H/G1244E,Significantly enhanced channel open probability +CFTR,D110H/G1349D,Significantly enhanced channel open probability +CFTR,D110H/G178R,Significantly enhanced channel open probability +CFTR,D110H/G551D,Increased open channel probability +CFTR,D110H/G551S,Significantly enhanced channel open probability +CFTR,D110H/K1060T,Significantly enhanced channel open probability +CFTR,D110H/L206W,Significantly enhanced channel open probability +CFTR,P67L/D110H,Significantly enhanced channel open probability +CFTR,D110H/R1070Q,Significantly enhanced channel open probability +CFTR,D110H/R1070W,Significantly enhanced channel open probability +CFTR,D110H/R117C,Significantly enhanced channel open probability +CFTR,D110H/R117H,Significantly enhanced channel open probability +CFTR,D110H/R347H,Significantly enhanced channel open probability +CFTR,D110H/R352Q,Significantly enhanced channel open probability +CFTR,R74W/D110H,Significantly enhanced channel open probability +CFTR,D110H/S1251N,Significantly enhanced channel open probability +CFTR,D110H/S1255P,Significantly enhanced channel open probability +CFTR,D110H/S549N,Significantly enhanced channel open probability +CFTR,D110H/S549R(A>C),Significantly enhanced channel open probability +CFTR,D110H/S549R(T>G),Significantly enhanced channel open probability +CFTR,D110H/S945L,Significantly enhanced channel open probability +CFTR,D110H/S977F,Significantly enhanced channel open probability +CFTR,Reference/D1152H,Significantly enhanced channel open probability +CFTR,D1152H/F508del,Significantly enhanced channel open probability +CFTR,D1152H/2789+5G->A,Significantly enhanced channel open probability +CFTR,D1152H/3272-26A->G,Significantly enhanced channel open probability +CFTR,D1152H/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,D1152H/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/D1152H,Significantly enhanced channel open probability +CFTR,A455E/D1152H,Significantly enhanced channel open probability +CFTR,D110E/D1152H,Significantly enhanced channel open probability +CFTR,D110H/D1152H,Significantly enhanced channel open probability +CFTR,D1152H/D1152H,Significantly enhanced channel open probability +CFTR,D1152H/D1270N,Significantly enhanced channel open probability +CFTR,D579G/D1152H,Significantly enhanced channel open probability +CFTR,E193K/D1152H,Significantly enhanced channel open probability +CFTR,E56K/D1152H,Significantly enhanced channel open probability +CFTR,E831X/D1152H,Significantly enhanced channel open probability +CFTR,D1152H/F1052V,Significantly enhanced channel open probability +CFTR,D1152H/F1074L,Significantly enhanced channel open probability +CFTR,D1152H/G1069R,Significantly enhanced channel open probability +CFTR,D1152H/G1244E,Significantly enhanced channel open probability +CFTR,D1152H/G1349D,Significantly enhanced channel open probability +CFTR,G178R/D1152H,Significantly enhanced channel open probability +CFTR,G551D/D1152H,Increased open channel probability +CFTR,G551S/D1152H,Significantly enhanced channel open probability +CFTR,D1152H/K1060T,Significantly enhanced channel open probability +CFTR,L206W/D1152H,Significantly enhanced channel open probability +CFTR,P67L/D1152H,Significantly enhanced channel open probability +CFTR,D1152H/R1070Q,Significantly enhanced channel open probability +CFTR,D1152H/R1070W,Significantly enhanced channel open probability +CFTR,R117C/D1152H,Significantly enhanced channel open probability +CFTR,R117H/D1152H,Significantly enhanced channel open probability +CFTR,R347H/D1152H,Significantly enhanced channel open probability +CFTR,R352Q/D1152H,Significantly enhanced channel open probability +CFTR,R74W/D1152H,Significantly enhanced channel open probability +CFTR,D1152H/S1251N,Significantly enhanced channel open probability +CFTR,D1152H/S1255P,Significantly enhanced channel open probability +CFTR,S549N/D1152H,Significantly enhanced channel open probability +CFTR,D1152H/S549R(A>C),Significantly enhanced channel open probability +CFTR,D1152H/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/D1152H,Significantly enhanced channel open probability +CFTR,S977F/D1152H,Significantly enhanced channel open probability +CFTR,Reference/D1270N,Significantly enhanced channel open probability +CFTR,D1270N/F508del,Significantly enhanced channel open probability +CFTR,D1270N/2789+5G->A,Significantly enhanced channel open probability +CFTR,D1270N/3272-26A->G,Significantly enhanced channel open probability +CFTR,D1270N/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,D1270N/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/D1270N,Significantly enhanced channel open probability +CFTR,A455E/D1270N,Significantly enhanced channel open probability +CFTR,D110E/D1270N,Significantly enhanced channel open probability +CFTR,D110H/D1270N,Significantly enhanced channel open probability +CFTR,D1152H/D1270N,Significantly enhanced channel open probability +CFTR,D1270N/D1270N,Significantly enhanced channel open probability +CFTR,D579G/D1270N,Significantly enhanced channel open probability +CFTR,E193K/D1270N,Significantly enhanced channel open probability +CFTR,E56K/D1270N,Significantly enhanced channel open probability +CFTR,E831X/D1270N,Significantly enhanced channel open probability +CFTR,D1270N/F1052V,Significantly enhanced channel open probability +CFTR,D1270N/F1074L,Significantly enhanced channel open probability +CFTR,D1270N/G1069R,Significantly enhanced channel open probability +CFTR,D1270N/G1244E,Significantly enhanced channel open probability +CFTR,D1270N/G1349D,Significantly enhanced channel open probability +CFTR,G178R/D1270N,Significantly enhanced channel open probability +CFTR,G551D/D1270N,Increased open channel probability +CFTR,G551S/D1270N,Significantly enhanced channel open probability +CFTR,D1270N/K1060T,Significantly enhanced channel open probability +CFTR,L206W/D1270N,Significantly enhanced channel open probability +CFTR,P67L/D1270N,Significantly enhanced channel open probability +CFTR,D1270N/R1070Q,Significantly enhanced channel open probability +CFTR,D1270N/R1070W,Significantly enhanced channel open probability +CFTR,R117C/D1270N,Significantly enhanced channel open probability +CFTR,R117H/D1270N,Significantly enhanced channel open probability +CFTR,R347H/D1270N,Significantly enhanced channel open probability +CFTR,R352Q/D1270N,Significantly enhanced channel open probability +CFTR,R74W/D1270N,Significantly enhanced channel open probability +CFTR,D1270N/S1251N,Significantly enhanced channel open probability +CFTR,D1270N/S1255P,Significantly enhanced channel open probability +CFTR,S549N/D1270N,Significantly enhanced channel open probability +CFTR,D1270N/S549R(A>C),Significantly enhanced channel open probability +CFTR,D1270N/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/D1270N,Significantly enhanced channel open probability +CFTR,S977F/D1270N,Significantly enhanced channel open probability +CFTR,Reference/D579G,Significantly enhanced channel open probability +CFTR,D579G/F508del,Significantly enhanced channel open probability +CFTR,D579G/2789+5G->A,Significantly enhanced channel open probability +CFTR,D579G/3272-26A->G,Significantly enhanced channel open probability +CFTR,D579G/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,D579G/711+3A->G,Significantly enhanced channel open probability +CFTR,D579G/A1067T,Significantly enhanced channel open probability +CFTR,A455E/D579G,Significantly enhanced channel open probability +CFTR,D110E/D579G,Significantly enhanced channel open probability +CFTR,D110H/D579G,Significantly enhanced channel open probability +CFTR,D579G/D1152H,Significantly enhanced channel open probability +CFTR,D579G/D1270N,Significantly enhanced channel open probability +CFTR,D579G/D579G,Significantly enhanced channel open probability +CFTR,D579G/E193K,Significantly enhanced channel open probability +CFTR,E56K/D579G,Significantly enhanced channel open probability +CFTR,D579G/E831X,Significantly enhanced channel open probability +CFTR,D579G/F1052V,Significantly enhanced channel open probability +CFTR,D579G/F1074L,Significantly enhanced channel open probability +CFTR,D579G/G1069R,Significantly enhanced channel open probability +CFTR,D579G/G1244E,Significantly enhanced channel open probability +CFTR,D579G/G1349D,Significantly enhanced channel open probability +CFTR,D579G/G178R,Significantly enhanced channel open probability +CFTR,D579G/G551D,Increased open channel probability +CFTR,D579G/G551S,Significantly enhanced channel open probability +CFTR,D579G/K1060T,Significantly enhanced channel open probability +CFTR,D579G/L206W,Significantly enhanced channel open probability +CFTR,P67L/D579G,Significantly enhanced channel open probability +CFTR,D579G/R1070Q,Significantly enhanced channel open probability +CFTR,D579G/R1070W,Significantly enhanced channel open probability +CFTR,D579G/R117C,Significantly enhanced channel open probability +CFTR,D579G/R117H,Significantly enhanced channel open probability +CFTR,D579G/R347H,Significantly enhanced channel open probability +CFTR,D579G/R352Q,Significantly enhanced channel open probability +CFTR,R74W/D579G,Significantly enhanced channel open probability +CFTR,D579G/S1251N,Significantly enhanced channel open probability +CFTR,D579G/S1255P,Significantly enhanced channel open probability +CFTR,D579G/S549N,Significantly enhanced channel open probability +CFTR,D579G/S549R(A>C),Significantly enhanced channel open probability +CFTR,D579G/S549R(T>G),Significantly enhanced channel open probability +CFTR,D579G/S945L,Significantly enhanced channel open probability +CFTR,D579G/S977F,Significantly enhanced channel open probability +CFTR,Reference/E193K,Significantly enhanced channel open probability +CFTR,E193K/F508del,Significantly enhanced channel open probability +CFTR,E193K/2789+5G->A,Significantly enhanced channel open probability +CFTR,E193K/3272-26A->G,Significantly enhanced channel open probability +CFTR,E193K/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,E193K/711+3A->G,Significantly enhanced channel open probability +CFTR,E193K/A1067T,Significantly enhanced channel open probability +CFTR,A455E/E193K,Significantly enhanced channel open probability +CFTR,D110E/E193K,Significantly enhanced channel open probability +CFTR,D110H/E193K,Significantly enhanced channel open probability +CFTR,E193K/D1152H,Significantly enhanced channel open probability +CFTR,E193K/D1270N,Significantly enhanced channel open probability +CFTR,D579G/E193K,Significantly enhanced channel open probability +CFTR,E193K/E193K,Significantly enhanced channel open probability +CFTR,E56K/E193K,Significantly enhanced channel open probability +CFTR,E193K/E831X,Significantly enhanced channel open probability +CFTR,E193K/F1052V,Significantly enhanced channel open probability +CFTR,E193K/F1074L,Significantly enhanced channel open probability +CFTR,E193K/G1069R,Significantly enhanced channel open probability +CFTR,E193K/G1244E,Significantly enhanced channel open probability +CFTR,E193K/G1349D,Significantly enhanced channel open probability +CFTR,E193K/G178R,Significantly enhanced channel open probability +CFTR,E193K/G551D,Increased open channel probability +CFTR,E193K/G551S,Significantly enhanced channel open probability +CFTR,E193K/K1060T,Significantly enhanced channel open probability +CFTR,E193K/L206W,Significantly enhanced channel open probability +CFTR,P67L/E193K,Significantly enhanced channel open probability +CFTR,E193K/R1070Q,Significantly enhanced channel open probability +CFTR,E193K/R1070W,Significantly enhanced channel open probability +CFTR,E193K/R117C,Significantly enhanced channel open probability +CFTR,E193K/R117H,Significantly enhanced channel open probability +CFTR,E193K/R347H,Significantly enhanced channel open probability +CFTR,E193K/R352Q,Significantly enhanced channel open probability +CFTR,R74W/E193K,Significantly enhanced channel open probability +CFTR,E193K/S1251N,Significantly enhanced channel open probability +CFTR,E193K/S1255P,Significantly enhanced channel open probability +CFTR,E193K/S549N,Significantly enhanced channel open probability +CFTR,E193K/S549R(A>C),Significantly enhanced channel open probability +CFTR,E193K/S549R(T>G),Significantly enhanced channel open probability +CFTR,E193K/S945L,Significantly enhanced channel open probability +CFTR,E193K/S977F,Significantly enhanced channel open probability +CFTR,Reference/E56K,Significantly enhanced channel open probability +CFTR,E56K/F508del,Significantly enhanced channel open probability +CFTR,E56K/2789+5G->A,Significantly enhanced channel open probability +CFTR,E56K/3272-26A->G,Significantly enhanced channel open probability +CFTR,E56K/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,E56K/711+3A->G,Significantly enhanced channel open probability +CFTR,E56K/A1067T,Significantly enhanced channel open probability +CFTR,E56K/A455E,Significantly enhanced channel open probability +CFTR,E56K/D110E,Significantly enhanced channel open probability +CFTR,E56K/D110H,Significantly enhanced channel open probability +CFTR,E56K/D1152H,Significantly enhanced channel open probability +CFTR,E56K/D1270N,Significantly enhanced channel open probability +CFTR,E56K/D579G,Significantly enhanced channel open probability +CFTR,E56K/E193K,Significantly enhanced channel open probability +CFTR,E56K/E56K,Significantly enhanced channel open probability +CFTR,E56K/E831X,Significantly enhanced channel open probability +CFTR,E56K/F1052V,Significantly enhanced channel open probability +CFTR,E56K/F1074L,Significantly enhanced channel open probability +CFTR,E56K/G1069R,Significantly enhanced channel open probability +CFTR,E56K/G1244E,Significantly enhanced channel open probability +CFTR,E56K/G1349D,Significantly enhanced channel open probability +CFTR,E56K/G178R,Significantly enhanced channel open probability +CFTR,E56K/G551D,Increased open channel probability +CFTR,E56K/G551S,Significantly enhanced channel open probability +CFTR,E56K/K1060T,Significantly enhanced channel open probability +CFTR,E56K/L206W,Significantly enhanced channel open probability +CFTR,E56K/P67L,Significantly enhanced channel open probability +CFTR,E56K/R1070Q,Significantly enhanced channel open probability +CFTR,E56K/R1070W,Significantly enhanced channel open probability +CFTR,E56K/R117C,Significantly enhanced channel open probability +CFTR,E56K/R117H,Significantly enhanced channel open probability +CFTR,E56K/R347H,Significantly enhanced channel open probability +CFTR,E56K/R352Q,Significantly enhanced channel open probability +CFTR,E56K/R74W,Significantly enhanced channel open probability +CFTR,E56K/S1251N,Significantly enhanced channel open probability +CFTR,E56K/S1255P,Significantly enhanced channel open probability +CFTR,E56K/S549N,Significantly enhanced channel open probability +CFTR,E56K/S549R(A>C),Significantly enhanced channel open probability +CFTR,E56K/S549R(T>G),Significantly enhanced channel open probability +CFTR,E56K/S945L,Significantly enhanced channel open probability +CFTR,E56K/S977F,Significantly enhanced channel open probability +CFTR,Reference/E831X,Significantly enhanced channel open probability +CFTR,E831X/F508del,Significantly enhanced channel open probability +CFTR,E831X/2789+5G->A,Significantly enhanced channel open probability +CFTR,E831X/3272-26A->G,Significantly enhanced channel open probability +CFTR,E831X/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,E831X/711+3A->G,Significantly enhanced channel open probability +CFTR,E831X/A1067T,Significantly enhanced channel open probability +CFTR,A455E/E831X,Significantly enhanced channel open probability +CFTR,D110E/E831X,Significantly enhanced channel open probability +CFTR,D110H/E831X,Significantly enhanced channel open probability +CFTR,E831X/D1152H,Significantly enhanced channel open probability +CFTR,E831X/D1270N,Significantly enhanced channel open probability +CFTR,D579G/E831X,Significantly enhanced channel open probability +CFTR,E193K/E831X,Significantly enhanced channel open probability +CFTR,E56K/E831X,Significantly enhanced channel open probability +CFTR,E831X/E831X,Significantly enhanced channel open probability +CFTR,E831X/F1052V,Significantly enhanced channel open probability +CFTR,E831X/F1074L,Significantly enhanced channel open probability +CFTR,E831X/G1069R,Significantly enhanced channel open probability +CFTR,E831X/G1244E,Significantly enhanced channel open probability +CFTR,E831X/G1349D,Significantly enhanced channel open probability +CFTR,E831X/G178R,Significantly enhanced channel open probability +CFTR,E831X/G551D,Increased open channel probability +CFTR,E831X/G551S,Significantly enhanced channel open probability +CFTR,E831X/K1060T,Significantly enhanced channel open probability +CFTR,E831X/L206W,Significantly enhanced channel open probability +CFTR,P67L/E831X,Significantly enhanced channel open probability +CFTR,E831X/R1070Q,Significantly enhanced channel open probability +CFTR,E831X/R1070W,Significantly enhanced channel open probability +CFTR,E831X/R117C,Significantly enhanced channel open probability +CFTR,E831X/R117H,Significantly enhanced channel open probability +CFTR,E831X/R347H,Significantly enhanced channel open probability +CFTR,E831X/R352Q,Significantly enhanced channel open probability +CFTR,R74W/E831X,Significantly enhanced channel open probability +CFTR,E831X/S1251N,Significantly enhanced channel open probability +CFTR,E831X/S1255P,Significantly enhanced channel open probability +CFTR,E831X/S549N,Significantly enhanced channel open probability +CFTR,E831X/S549R(A>C),Significantly enhanced channel open probability +CFTR,E831X/S549R(T>G),Significantly enhanced channel open probability +CFTR,E831X/S945L,Significantly enhanced channel open probability +CFTR,E831X/S977F,Significantly enhanced channel open probability +CFTR,Reference/F1052V,Significantly enhanced channel open probability +CFTR,F1052V/F508del,Significantly enhanced channel open probability +CFTR,F1052V/2789+5G->A,Significantly enhanced channel open probability +CFTR,F1052V/3272-26A->G,Significantly enhanced channel open probability +CFTR,F1052V/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,F1052V/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/F1052V,Significantly enhanced channel open probability +CFTR,A455E/F1052V,Significantly enhanced channel open probability +CFTR,D110E/F1052V,Significantly enhanced channel open probability +CFTR,D110H/F1052V,Significantly enhanced channel open probability +CFTR,D1152H/F1052V,Significantly enhanced channel open probability +CFTR,D1270N/F1052V,Significantly enhanced channel open probability +CFTR,D579G/F1052V,Significantly enhanced channel open probability +CFTR,E193K/F1052V,Significantly enhanced channel open probability +CFTR,E56K/F1052V,Significantly enhanced channel open probability +CFTR,E831X/F1052V,Significantly enhanced channel open probability +CFTR,F1052V/F1052V,Significantly enhanced channel open probability +CFTR,F1052V/F1074L,Significantly enhanced channel open probability +CFTR,F1052V/G1069R,Significantly enhanced channel open probability +CFTR,F1052V/G1244E,Significantly enhanced channel open probability +CFTR,F1052V/G1349D,Significantly enhanced channel open probability +CFTR,G178R/F1052V,Significantly enhanced channel open probability +CFTR,G551D/F1052V,Increased open channel probability +CFTR,G551S/F1052V,Significantly enhanced channel open probability +CFTR,F1052V/K1060T,Significantly enhanced channel open probability +CFTR,L206W/F1052V,Significantly enhanced channel open probability +CFTR,P67L/F1052V,Significantly enhanced channel open probability +CFTR,F1052V/R1070Q,Significantly enhanced channel open probability +CFTR,F1052V/R1070W,Significantly enhanced channel open probability +CFTR,R117C/F1052V,Significantly enhanced channel open probability +CFTR,R117H/F1052V,Significantly enhanced channel open probability +CFTR,R347H/F1052V,Significantly enhanced channel open probability +CFTR,R352Q/F1052V,Significantly enhanced channel open probability +CFTR,R74W/F1052V,Significantly enhanced channel open probability +CFTR,F1052V/S1251N,Significantly enhanced channel open probability +CFTR,F1052V/S1255P,Significantly enhanced channel open probability +CFTR,S549N/F1052V,Significantly enhanced channel open probability +CFTR,F1052V/S549R(A>C),Significantly enhanced channel open probability +CFTR,F1052V/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/F1052V,Significantly enhanced channel open probability +CFTR,S977F/F1052V,Significantly enhanced channel open probability +CFTR,Reference/F1074L,Significantly enhanced channel open probability +CFTR,F1074L/F508del,Significantly enhanced channel open probability +CFTR,F1074L/2789+5G->A,Significantly enhanced channel open probability +CFTR,F1074L/3272-26A->G,Significantly enhanced channel open probability +CFTR,F1074L/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,F1074L/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/F1074L,Significantly enhanced channel open probability +CFTR,A455E/F1074L,Significantly enhanced channel open probability +CFTR,D110E/F1074L,Significantly enhanced channel open probability +CFTR,D110H/F1074L,Significantly enhanced channel open probability +CFTR,D1152H/F1074L,Significantly enhanced channel open probability +CFTR,D1270N/F1074L,Significantly enhanced channel open probability +CFTR,D579G/F1074L,Significantly enhanced channel open probability +CFTR,E193K/F1074L,Significantly enhanced channel open probability +CFTR,E56K/F1074L,Significantly enhanced channel open probability +CFTR,E831X/F1074L,Significantly enhanced channel open probability +CFTR,F1052V/F1074L,Significantly enhanced channel open probability +CFTR,F1074L/F1074L,Significantly enhanced channel open probability +CFTR,F1074L/G1069R,Significantly enhanced channel open probability +CFTR,F1074L/G1244E,Significantly enhanced channel open probability +CFTR,F1074L/G1349D,Significantly enhanced channel open probability +CFTR,G178R/F1074L,Significantly enhanced channel open probability +CFTR,G551D/F1074L,Increased open channel probability +CFTR,G551S/F1074L,Significantly enhanced channel open probability +CFTR,F1074L/K1060T,Significantly enhanced channel open probability +CFTR,L206W/F1074L,Significantly enhanced channel open probability +CFTR,P67L/F1074L,Significantly enhanced channel open probability +CFTR,F1074L/R1070Q,Significantly enhanced channel open probability +CFTR,F1074L/R1070W,Significantly enhanced channel open probability +CFTR,R117C/F1074L,Significantly enhanced channel open probability +CFTR,R117H/F1074L,Significantly enhanced channel open probability +CFTR,R347H/F1074L,Significantly enhanced channel open probability +CFTR,R352Q/F1074L,Significantly enhanced channel open probability +CFTR,R74W/F1074L,Significantly enhanced channel open probability +CFTR,F1074L/S1251N,Significantly enhanced channel open probability +CFTR,F1074L/S1255P,Significantly enhanced channel open probability +CFTR,S549N/F1074L,Significantly enhanced channel open probability +CFTR,F1074L/S549R(A>C),Significantly enhanced channel open probability +CFTR,F1074L/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/F1074L,Significantly enhanced channel open probability +CFTR,S977F/F1074L,Significantly enhanced channel open probability +CFTR,Reference/G1069R,Significantly enhanced channel open probability +CFTR,G1069R/F508del,Significantly enhanced channel open probability +CFTR,G1069R/2789+5G->A,Significantly enhanced channel open probability +CFTR,G1069R/3272-26A->G,Significantly enhanced channel open probability +CFTR,G1069R/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,G1069R/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/G1069R,Significantly enhanced channel open probability +CFTR,A455E/G1069R,Significantly enhanced channel open probability +CFTR,D110E/G1069R,Significantly enhanced channel open probability +CFTR,D110H/G1069R,Significantly enhanced channel open probability +CFTR,D1152H/G1069R,Significantly enhanced channel open probability +CFTR,D1270N/G1069R,Significantly enhanced channel open probability +CFTR,D579G/G1069R,Significantly enhanced channel open probability +CFTR,E193K/G1069R,Significantly enhanced channel open probability +CFTR,E56K/G1069R,Significantly enhanced channel open probability +CFTR,E831X/G1069R,Significantly enhanced channel open probability +CFTR,F1052V/G1069R,Significantly enhanced channel open probability +CFTR,F1074L/G1069R,Significantly enhanced channel open probability +CFTR,G1069R/G1069R,Significantly enhanced channel open probability +CFTR,G1069R/G1244E,Significantly enhanced channel open probability +CFTR,G1069R/G1349D,Significantly enhanced channel open probability +CFTR,G178R/G1069R,Significantly enhanced channel open probability +CFTR,G551D/G1069R,Increased open channel probability +CFTR,G551S/G1069R,Significantly enhanced channel open probability +CFTR,G1069R/K1060T,Significantly enhanced channel open probability +CFTR,L206W/G1069R,Significantly enhanced channel open probability +CFTR,P67L/G1069R,Significantly enhanced channel open probability +CFTR,G1069R/R1070Q,Significantly enhanced channel open probability +CFTR,G1069R/R1070W,Significantly enhanced channel open probability +CFTR,R117C/G1069R,Significantly enhanced channel open probability +CFTR,R117H/G1069R,Significantly enhanced channel open probability +CFTR,R347H/G1069R,Significantly enhanced channel open probability +CFTR,R352Q/G1069R,Significantly enhanced channel open probability +CFTR,R74W/G1069R,Significantly enhanced channel open probability +CFTR,G1069R/S1251N,Significantly enhanced channel open probability +CFTR,G1069R/S1255P,Significantly enhanced channel open probability +CFTR,S549N/G1069R,Significantly enhanced channel open probability +CFTR,G1069R/S549R(A>C),Significantly enhanced channel open probability +CFTR,G1069R/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/G1069R,Significantly enhanced channel open probability +CFTR,S977F/G1069R,Significantly enhanced channel open probability +CFTR,Reference/G1244E,Significantly enhanced channel open probability +CFTR,G1244E/F508del,Significantly enhanced channel open probability +CFTR,G1244E/2789+5G->A,Significantly enhanced channel open probability +CFTR,G1244E/3272-26A->G,Significantly enhanced channel open probability +CFTR,G1244E/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,G1244E/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/G1244E,Significantly enhanced channel open probability +CFTR,A455E/G1244E,Significantly enhanced channel open probability +CFTR,D110E/G1244E,Significantly enhanced channel open probability +CFTR,D110H/G1244E,Significantly enhanced channel open probability +CFTR,D1152H/G1244E,Significantly enhanced channel open probability +CFTR,D1270N/G1244E,Significantly enhanced channel open probability +CFTR,D579G/G1244E,Significantly enhanced channel open probability +CFTR,E193K/G1244E,Significantly enhanced channel open probability +CFTR,E56K/G1244E,Significantly enhanced channel open probability +CFTR,E831X/G1244E,Significantly enhanced channel open probability +CFTR,F1052V/G1244E,Significantly enhanced channel open probability +CFTR,F1074L/G1244E,Significantly enhanced channel open probability +CFTR,G1069R/G1244E,Significantly enhanced channel open probability +CFTR,G1244E/G1244E,Significantly enhanced channel open probability +CFTR,G1244E/G1349D,Significantly enhanced channel open probability +CFTR,G178R/G1244E,Significantly enhanced channel open probability +CFTR,G551D/G1244E,Increased open channel probability +CFTR,G551S/G1244E,Significantly enhanced channel open probability +CFTR,G1244E/K1060T,Significantly enhanced channel open probability +CFTR,L206W/G1244E,Significantly enhanced channel open probability +CFTR,P67L/G1244E,Significantly enhanced channel open probability +CFTR,G1244E/R1070Q,Significantly enhanced channel open probability +CFTR,G1244E/R1070W,Significantly enhanced channel open probability +CFTR,R117C/G1244E,Significantly enhanced channel open probability +CFTR,R117H/G1244E,Significantly enhanced channel open probability +CFTR,R347H/G1244E,Significantly enhanced channel open probability +CFTR,R352Q/G1244E,Significantly enhanced channel open probability +CFTR,R74W/G1244E,Significantly enhanced channel open probability +CFTR,G1244E/S1251N,Significantly enhanced channel open probability +CFTR,G1244E/S1255P,Significantly enhanced channel open probability +CFTR,S549N/G1244E,Significantly enhanced channel open probability +CFTR,G1244E/S549R(A>C),Significantly enhanced channel open probability +CFTR,G1244E/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/G1244E,Significantly enhanced channel open probability +CFTR,S977F/G1244E,Significantly enhanced channel open probability +CFTR,Reference/G1349D,Significantly enhanced channel open probability +CFTR,G1349D/F508del,Significantly enhanced channel open probability +CFTR,G1349D/2789+5G->A,Significantly enhanced channel open probability +CFTR,G1349D/3272-26A->G,Significantly enhanced channel open probability +CFTR,G1349D/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,G1349D/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/G1349D,Significantly enhanced channel open probability +CFTR,A455E/G1349D,Significantly enhanced channel open probability +CFTR,D110E/G1349D,Significantly enhanced channel open probability +CFTR,D110H/G1349D,Significantly enhanced channel open probability +CFTR,D1152H/G1349D,Significantly enhanced channel open probability +CFTR,D1270N/G1349D,Significantly enhanced channel open probability +CFTR,D579G/G1349D,Significantly enhanced channel open probability +CFTR,E193K/G1349D,Significantly enhanced channel open probability +CFTR,E56K/G1349D,Significantly enhanced channel open probability +CFTR,E831X/G1349D,Significantly enhanced channel open probability +CFTR,F1052V/G1349D,Significantly enhanced channel open probability +CFTR,F1074L/G1349D,Significantly enhanced channel open probability +CFTR,G1069R/G1349D,Significantly enhanced channel open probability +CFTR,G1244E/G1349D,Significantly enhanced channel open probability +CFTR,G1349D/G1349D,Significantly enhanced channel open probability +CFTR,G178R/G1349D,Significantly enhanced channel open probability +CFTR,G551D/G1349D,Increased open channel probability +CFTR,G551S/G1349D,Significantly enhanced channel open probability +CFTR,G1349D/K1060T,Significantly enhanced channel open probability +CFTR,L206W/G1349D,Significantly enhanced channel open probability +CFTR,P67L/G1349D,Significantly enhanced channel open probability +CFTR,G1349D/R1070Q,Significantly enhanced channel open probability +CFTR,G1349D/R1070W,Significantly enhanced channel open probability +CFTR,R117C/G1349D,Significantly enhanced channel open probability +CFTR,R117H/G1349D,Significantly enhanced channel open probability +CFTR,R347H/G1349D,Significantly enhanced channel open probability +CFTR,R352Q/G1349D,Significantly enhanced channel open probability +CFTR,R74W/G1349D,Significantly enhanced channel open probability +CFTR,G1349D/S1251N,Significantly enhanced channel open probability +CFTR,G1349D/S1255P,Significantly enhanced channel open probability +CFTR,S549N/G1349D,Significantly enhanced channel open probability +CFTR,G1349D/S549R(A>C),Significantly enhanced channel open probability +CFTR,G1349D/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/G1349D,Significantly enhanced channel open probability +CFTR,S977F/G1349D,Significantly enhanced channel open probability +CFTR,Reference/G178R,Significantly enhanced channel open probability +CFTR,G178R/F508del,Significantly enhanced channel open probability +CFTR,G178R/2789+5G->A,Significantly enhanced channel open probability +CFTR,G178R/3272-26A->G,Significantly enhanced channel open probability +CFTR,G178R/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,G178R/711+3A->G,Significantly enhanced channel open probability +CFTR,G178R/A1067T,Significantly enhanced channel open probability +CFTR,A455E/G178R,Significantly enhanced channel open probability +CFTR,D110E/G178R,Significantly enhanced channel open probability +CFTR,D110H/G178R,Significantly enhanced channel open probability +CFTR,G178R/D1152H,Significantly enhanced channel open probability +CFTR,G178R/D1270N,Significantly enhanced channel open probability +CFTR,D579G/G178R,Significantly enhanced channel open probability +CFTR,E193K/G178R,Significantly enhanced channel open probability +CFTR,E56K/G178R,Significantly enhanced channel open probability +CFTR,E831X/G178R,Significantly enhanced channel open probability +CFTR,G178R/F1052V,Significantly enhanced channel open probability +CFTR,G178R/F1074L,Significantly enhanced channel open probability +CFTR,G178R/G1069R,Significantly enhanced channel open probability +CFTR,G178R/G1244E,Significantly enhanced channel open probability +CFTR,G178R/G1349D,Significantly enhanced channel open probability +CFTR,G178R/G178R,Significantly enhanced channel open probability +CFTR,G178R/G551D,Increased open channel probability +CFTR,G178R/G551S,Significantly enhanced channel open probability +CFTR,G178R/K1060T,Significantly enhanced channel open probability +CFTR,G178R/L206W,Significantly enhanced channel open probability +CFTR,P67L/G178R,Significantly enhanced channel open probability +CFTR,G178R/R1070Q,Significantly enhanced channel open probability +CFTR,G178R/R1070W,Significantly enhanced channel open probability +CFTR,G178R/R117C,Significantly enhanced channel open probability +CFTR,G178R/R117H,Significantly enhanced channel open probability +CFTR,G178R/R347H,Significantly enhanced channel open probability +CFTR,G178R/R352Q,Significantly enhanced channel open probability +CFTR,R74W/G178R,Significantly enhanced channel open probability +CFTR,G178R/S1251N,Significantly enhanced channel open probability +CFTR,G178R/S1255P,Significantly enhanced channel open probability +CFTR,G178R/S549N,Significantly enhanced channel open probability +CFTR,G178R/S549R(A>C),Significantly enhanced channel open probability +CFTR,G178R/S549R(T>G),Significantly enhanced channel open probability +CFTR,G178R/S945L,Significantly enhanced channel open probability +CFTR,G178R/S977F,Significantly enhanced channel open probability +CFTR,Reference/G551D,Increased open channel probability +CFTR,G551D/F508del,Increased open channel probability +CFTR,G551D/2789+5G->A,Increased open channel probability +CFTR,G551D/3272-26A->G,Increased open channel probability +CFTR,G551D/3849+10kbC->T,Increased open channel probability +CFTR,G551D/711+3A->G,Increased open channel probability +CFTR,G551D/A1067T,Increased open channel probability +CFTR,A455E/G551D,Increased open channel probability +CFTR,D110E/G551D,Increased open channel probability +CFTR,D110H/G551D,Increased open channel probability +CFTR,G551D/D1152H,Increased open channel probability +CFTR,G551D/D1270N,Increased open channel probability +CFTR,D579G/G551D,Increased open channel probability +CFTR,E193K/G551D,Increased open channel probability +CFTR,E56K/G551D,Increased open channel probability +CFTR,E831X/G551D,Increased open channel probability +CFTR,G551D/F1052V,Increased open channel probability +CFTR,G551D/F1074L,Increased open channel probability +CFTR,G551D/G1069R,Increased open channel probability +CFTR,G551D/G1244E,Increased open channel probability +CFTR,G551D/G1349D,Increased open channel probability +CFTR,G178R/G551D,Increased open channel probability +CFTR,G551D/G551D,Increased open channel probability +CFTR,G551D/G551S,Increased open channel probability +CFTR,G551D/K1060T,Increased open channel probability +CFTR,G551D/L206W,Increased open channel probability +CFTR,P67L/G551D,Increased open channel probability +CFTR,G551D/R1070Q,Increased open channel probability +CFTR,G551D/R1070W,Increased open channel probability +CFTR,G551D/R117C,Increased open channel probability +CFTR,G551D/R117H,Increased open channel probability +CFTR,G551D/R347H,Increased open channel probability +CFTR,G551D/R352Q,Increased open channel probability +CFTR,R74W/G551D,Increased open channel probability +CFTR,G551D/S1251N,Increased open channel probability +CFTR,G551D/S1255P,Increased open channel probability +CFTR,G551D/S549N,Increased open channel probability +CFTR,G551D/S549R(A>C),Increased open channel probability +CFTR,G551D/S549R(T>G),Increased open channel probability +CFTR,G551D/S945L,Increased open channel probability +CFTR,G551D/S977F,Increased open channel probability +CFTR,Reference/G551S,Significantly enhanced channel open probability +CFTR,G551S/F508del,Significantly enhanced channel open probability +CFTR,G551S/2789+5G->A,Significantly enhanced channel open probability +CFTR,G551S/3272-26A->G,Significantly enhanced channel open probability +CFTR,G551S/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,G551S/711+3A->G,Significantly enhanced channel open probability +CFTR,G551S/A1067T,Significantly enhanced channel open probability +CFTR,A455E/G551S,Significantly enhanced channel open probability +CFTR,D110E/G551S,Significantly enhanced channel open probability +CFTR,D110H/G551S,Significantly enhanced channel open probability +CFTR,G551S/D1152H,Significantly enhanced channel open probability +CFTR,G551S/D1270N,Significantly enhanced channel open probability +CFTR,D579G/G551S,Significantly enhanced channel open probability +CFTR,E193K/G551S,Significantly enhanced channel open probability +CFTR,E56K/G551S,Significantly enhanced channel open probability +CFTR,E831X/G551S,Significantly enhanced channel open probability +CFTR,G551S/F1052V,Significantly enhanced channel open probability +CFTR,G551S/F1074L,Significantly enhanced channel open probability +CFTR,G551S/G1069R,Significantly enhanced channel open probability +CFTR,G551S/G1244E,Significantly enhanced channel open probability +CFTR,G551S/G1349D,Significantly enhanced channel open probability +CFTR,G178R/G551S,Significantly enhanced channel open probability +CFTR,G551D/G551S,Increased open channel probability +CFTR,G551S/G551S,Significantly enhanced channel open probability +CFTR,G551S/K1060T,Significantly enhanced channel open probability +CFTR,G551S/L206W,Significantly enhanced channel open probability +CFTR,P67L/G551S,Significantly enhanced channel open probability +CFTR,G551S/R1070Q,Significantly enhanced channel open probability +CFTR,G551S/R1070W,Significantly enhanced channel open probability +CFTR,G551S/R117C,Significantly enhanced channel open probability +CFTR,G551S/R117H,Significantly enhanced channel open probability +CFTR,G551S/R347H,Significantly enhanced channel open probability +CFTR,G551S/R352Q,Significantly enhanced channel open probability +CFTR,R74W/G551S,Significantly enhanced channel open probability +CFTR,G551S/S1251N,Significantly enhanced channel open probability +CFTR,G551S/S1255P,Significantly enhanced channel open probability +CFTR,G551S/S549N,Significantly enhanced channel open probability +CFTR,G551S/S549R(A>C),Significantly enhanced channel open probability +CFTR,G551S/S549R(T>G),Significantly enhanced channel open probability +CFTR,G551S/S945L,Significantly enhanced channel open probability +CFTR,G551S/S977F,Significantly enhanced channel open probability +CFTR,Reference/K1060T,Significantly enhanced channel open probability +CFTR,K1060T/F508del,Significantly enhanced channel open probability +CFTR,K1060T/2789+5G->A,Significantly enhanced channel open probability +CFTR,K1060T/3272-26A->G,Significantly enhanced channel open probability +CFTR,K1060T/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,K1060T/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/K1060T,Significantly enhanced channel open probability +CFTR,A455E/K1060T,Significantly enhanced channel open probability +CFTR,D110E/K1060T,Significantly enhanced channel open probability +CFTR,D110H/K1060T,Significantly enhanced channel open probability +CFTR,D1152H/K1060T,Significantly enhanced channel open probability +CFTR,D1270N/K1060T,Significantly enhanced channel open probability +CFTR,D579G/K1060T,Significantly enhanced channel open probability +CFTR,E193K/K1060T,Significantly enhanced channel open probability +CFTR,E56K/K1060T,Significantly enhanced channel open probability +CFTR,E831X/K1060T,Significantly enhanced channel open probability +CFTR,F1052V/K1060T,Significantly enhanced channel open probability +CFTR,F1074L/K1060T,Significantly enhanced channel open probability +CFTR,G1069R/K1060T,Significantly enhanced channel open probability +CFTR,G1244E/K1060T,Significantly enhanced channel open probability +CFTR,G1349D/K1060T,Significantly enhanced channel open probability +CFTR,G178R/K1060T,Significantly enhanced channel open probability +CFTR,G551D/K1060T,Increased open channel probability +CFTR,G551S/K1060T,Significantly enhanced channel open probability +CFTR,K1060T/K1060T,Significantly enhanced channel open probability +CFTR,L206W/K1060T,Significantly enhanced channel open probability +CFTR,P67L/K1060T,Significantly enhanced channel open probability +CFTR,K1060T/R1070Q,Significantly enhanced channel open probability +CFTR,K1060T/R1070W,Significantly enhanced channel open probability +CFTR,R117C/K1060T,Significantly enhanced channel open probability +CFTR,R117H/K1060T,Significantly enhanced channel open probability +CFTR,R347H/K1060T,Significantly enhanced channel open probability +CFTR,R352Q/K1060T,Significantly enhanced channel open probability +CFTR,R74W/K1060T,Significantly enhanced channel open probability +CFTR,K1060T/S1251N,Significantly enhanced channel open probability +CFTR,K1060T/S1255P,Significantly enhanced channel open probability +CFTR,S549N/K1060T,Significantly enhanced channel open probability +CFTR,K1060T/S549R(A>C),Significantly enhanced channel open probability +CFTR,K1060T/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/K1060T,Significantly enhanced channel open probability +CFTR,S977F/K1060T,Significantly enhanced channel open probability +CFTR,Reference/L206W,Significantly enhanced channel open probability +CFTR,L206W/F508del,Significantly enhanced channel open probability +CFTR,L206W/2789+5G->A,Significantly enhanced channel open probability +CFTR,L206W/3272-26A->G,Significantly enhanced channel open probability +CFTR,L206W/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,L206W/711+3A->G,Significantly enhanced channel open probability +CFTR,L206W/A1067T,Significantly enhanced channel open probability +CFTR,A455E/L206W,Significantly enhanced channel open probability +CFTR,D110E/L206W,Significantly enhanced channel open probability +CFTR,D110H/L206W,Significantly enhanced channel open probability +CFTR,L206W/D1152H,Significantly enhanced channel open probability +CFTR,L206W/D1270N,Significantly enhanced channel open probability +CFTR,D579G/L206W,Significantly enhanced channel open probability +CFTR,E193K/L206W,Significantly enhanced channel open probability +CFTR,E56K/L206W,Significantly enhanced channel open probability +CFTR,E831X/L206W,Significantly enhanced channel open probability +CFTR,L206W/F1052V,Significantly enhanced channel open probability +CFTR,L206W/F1074L,Significantly enhanced channel open probability +CFTR,L206W/G1069R,Significantly enhanced channel open probability +CFTR,L206W/G1244E,Significantly enhanced channel open probability +CFTR,L206W/G1349D,Significantly enhanced channel open probability +CFTR,G178R/L206W,Significantly enhanced channel open probability +CFTR,G551D/L206W,Increased open channel probability +CFTR,G551S/L206W,Significantly enhanced channel open probability +CFTR,L206W/K1060T,Significantly enhanced channel open probability +CFTR,L206W/L206W,Significantly enhanced channel open probability +CFTR,P67L/L206W,Significantly enhanced channel open probability +CFTR,L206W/R1070Q,Significantly enhanced channel open probability +CFTR,L206W/R1070W,Significantly enhanced channel open probability +CFTR,L206W/R117C,Significantly enhanced channel open probability +CFTR,L206W/R117H,Significantly enhanced channel open probability +CFTR,L206W/R347H,Significantly enhanced channel open probability +CFTR,L206W/R352Q,Significantly enhanced channel open probability +CFTR,R74W/L206W,Significantly enhanced channel open probability +CFTR,L206W/S1251N,Significantly enhanced channel open probability +CFTR,L206W/S1255P,Significantly enhanced channel open probability +CFTR,L206W/S549N,Significantly enhanced channel open probability +CFTR,L206W/S549R(A>C),Significantly enhanced channel open probability +CFTR,L206W/S549R(T>G),Significantly enhanced channel open probability +CFTR,L206W/S945L,Significantly enhanced channel open probability +CFTR,L206W/S977F,Significantly enhanced channel open probability +CFTR,Reference/P67L,Significantly enhanced channel open probability +CFTR,P67L/F508del,Significantly enhanced channel open probability +CFTR,P67L/2789+5G->A,Significantly enhanced channel open probability +CFTR,P67L/3272-26A->G,Significantly enhanced channel open probability +CFTR,P67L/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,P67L/711+3A->G,Significantly enhanced channel open probability +CFTR,P67L/A1067T,Significantly enhanced channel open probability +CFTR,P67L/A455E,Significantly enhanced channel open probability +CFTR,P67L/D110E,Significantly enhanced channel open probability +CFTR,P67L/D110H,Significantly enhanced channel open probability +CFTR,P67L/D1152H,Significantly enhanced channel open probability +CFTR,P67L/D1270N,Significantly enhanced channel open probability +CFTR,P67L/D579G,Significantly enhanced channel open probability +CFTR,P67L/E193K,Significantly enhanced channel open probability +CFTR,E56K/P67L,Significantly enhanced channel open probability +CFTR,P67L/E831X,Significantly enhanced channel open probability +CFTR,P67L/F1052V,Significantly enhanced channel open probability +CFTR,P67L/F1074L,Significantly enhanced channel open probability +CFTR,P67L/G1069R,Significantly enhanced channel open probability +CFTR,P67L/G1244E,Significantly enhanced channel open probability +CFTR,P67L/G1349D,Significantly enhanced channel open probability +CFTR,P67L/G178R,Significantly enhanced channel open probability +CFTR,P67L/G551D,Increased open channel probability +CFTR,P67L/G551S,Significantly enhanced channel open probability +CFTR,P67L/K1060T,Significantly enhanced channel open probability +CFTR,P67L/L206W,Significantly enhanced channel open probability +CFTR,P67L/P67L,Significantly enhanced channel open probability +CFTR,P67L/R1070Q,Significantly enhanced channel open probability +CFTR,P67L/R1070W,Significantly enhanced channel open probability +CFTR,P67L/R117C,Significantly enhanced channel open probability +CFTR,P67L/R117H,Significantly enhanced channel open probability +CFTR,P67L/R347H,Significantly enhanced channel open probability +CFTR,P67L/R352Q,Significantly enhanced channel open probability +CFTR,P67L/R74W,Significantly enhanced channel open probability +CFTR,P67L/S1251N,Significantly enhanced channel open probability +CFTR,P67L/S1255P,Significantly enhanced channel open probability +CFTR,P67L/S549N,Significantly enhanced channel open probability +CFTR,P67L/S549R(A>C),Significantly enhanced channel open probability +CFTR,P67L/S549R(T>G),Significantly enhanced channel open probability +CFTR,P67L/S945L,Significantly enhanced channel open probability +CFTR,P67L/S977F,Significantly enhanced channel open probability +CFTR,Reference/R1070Q,Significantly enhanced channel open probability +CFTR,R1070Q/F508del,Significantly enhanced channel open probability +CFTR,R1070Q/2789+5G->A,Significantly enhanced channel open probability +CFTR,R1070Q/3272-26A->G,Significantly enhanced channel open probability +CFTR,R1070Q/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R1070Q/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/R1070Q,Significantly enhanced channel open probability +CFTR,A455E/R1070Q,Significantly enhanced channel open probability +CFTR,D110E/R1070Q,Significantly enhanced channel open probability +CFTR,D110H/R1070Q,Significantly enhanced channel open probability +CFTR,D1152H/R1070Q,Significantly enhanced channel open probability +CFTR,D1270N/R1070Q,Significantly enhanced channel open probability +CFTR,D579G/R1070Q,Significantly enhanced channel open probability +CFTR,E193K/R1070Q,Significantly enhanced channel open probability +CFTR,E56K/R1070Q,Significantly enhanced channel open probability +CFTR,E831X/R1070Q,Significantly enhanced channel open probability +CFTR,F1052V/R1070Q,Significantly enhanced channel open probability +CFTR,F1074L/R1070Q,Significantly enhanced channel open probability +CFTR,G1069R/R1070Q,Significantly enhanced channel open probability +CFTR,G1244E/R1070Q,Significantly enhanced channel open probability +CFTR,G1349D/R1070Q,Significantly enhanced channel open probability +CFTR,G178R/R1070Q,Significantly enhanced channel open probability +CFTR,G551D/R1070Q,Increased open channel probability +CFTR,G551S/R1070Q,Significantly enhanced channel open probability +CFTR,K1060T/R1070Q,Significantly enhanced channel open probability +CFTR,L206W/R1070Q,Significantly enhanced channel open probability +CFTR,P67L/R1070Q,Significantly enhanced channel open probability +CFTR,R1070Q/R1070Q,Significantly enhanced channel open probability +CFTR,R1070Q/R1070W,Significantly enhanced channel open probability +CFTR,R117C/R1070Q,Significantly enhanced channel open probability +CFTR,R117H/R1070Q,Significantly enhanced channel open probability +CFTR,R347H/R1070Q,Significantly enhanced channel open probability +CFTR,R352Q/R1070Q,Significantly enhanced channel open probability +CFTR,R74W/R1070Q,Significantly enhanced channel open probability +CFTR,R1070Q/S1251N,Significantly enhanced channel open probability +CFTR,R1070Q/S1255P,Significantly enhanced channel open probability +CFTR,S549N/R1070Q,Significantly enhanced channel open probability +CFTR,R1070Q/S549R(A>C),Significantly enhanced channel open probability +CFTR,R1070Q/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/R1070Q,Significantly enhanced channel open probability +CFTR,S977F/R1070Q,Significantly enhanced channel open probability +CFTR,Reference/R1070W,Significantly enhanced channel open probability +CFTR,R1070W/F508del,Significantly enhanced channel open probability +CFTR,R1070W/2789+5G->A,Significantly enhanced channel open probability +CFTR,R1070W/3272-26A->G,Significantly enhanced channel open probability +CFTR,R1070W/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R1070W/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/R1070W,Significantly enhanced channel open probability +CFTR,A455E/R1070W,Significantly enhanced channel open probability +CFTR,D110E/R1070W,Significantly enhanced channel open probability +CFTR,D110H/R1070W,Significantly enhanced channel open probability +CFTR,D1152H/R1070W,Significantly enhanced channel open probability +CFTR,D1270N/R1070W,Significantly enhanced channel open probability +CFTR,D579G/R1070W,Significantly enhanced channel open probability +CFTR,E193K/R1070W,Significantly enhanced channel open probability +CFTR,E56K/R1070W,Significantly enhanced channel open probability +CFTR,E831X/R1070W,Significantly enhanced channel open probability +CFTR,F1052V/R1070W,Significantly enhanced channel open probability +CFTR,F1074L/R1070W,Significantly enhanced channel open probability +CFTR,G1069R/R1070W,Significantly enhanced channel open probability +CFTR,G1244E/R1070W,Significantly enhanced channel open probability +CFTR,G1349D/R1070W,Significantly enhanced channel open probability +CFTR,G178R/R1070W,Significantly enhanced channel open probability +CFTR,G551D/R1070W,Increased open channel probability +CFTR,G551S/R1070W,Significantly enhanced channel open probability +CFTR,K1060T/R1070W,Significantly enhanced channel open probability +CFTR,L206W/R1070W,Significantly enhanced channel open probability +CFTR,P67L/R1070W,Significantly enhanced channel open probability +CFTR,R1070Q/R1070W,Significantly enhanced channel open probability +CFTR,R1070W/R1070W,Significantly enhanced channel open probability +CFTR,R117C/R1070W,Significantly enhanced channel open probability +CFTR,R117H/R1070W,Significantly enhanced channel open probability +CFTR,R347H/R1070W,Significantly enhanced channel open probability +CFTR,R352Q/R1070W,Significantly enhanced channel open probability +CFTR,R74W/R1070W,Significantly enhanced channel open probability +CFTR,R1070W/S1251N,Significantly enhanced channel open probability +CFTR,R1070W/S1255P,Significantly enhanced channel open probability +CFTR,S549N/R1070W,Significantly enhanced channel open probability +CFTR,R1070W/S549R(A>C),Significantly enhanced channel open probability +CFTR,R1070W/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/R1070W,Significantly enhanced channel open probability +CFTR,S977F/R1070W,Significantly enhanced channel open probability +CFTR,Reference/R117C,Significantly enhanced channel open probability +CFTR,R117C/F508del,Significantly enhanced channel open probability +CFTR,R117C/2789+5G->A,Significantly enhanced channel open probability +CFTR,R117C/3272-26A->G,Significantly enhanced channel open probability +CFTR,R117C/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R117C/711+3A->G,Significantly enhanced channel open probability +CFTR,R117C/A1067T,Significantly enhanced channel open probability +CFTR,A455E/R117C,Significantly enhanced channel open probability +CFTR,D110E/R117C,Significantly enhanced channel open probability +CFTR,D110H/R117C,Significantly enhanced channel open probability +CFTR,R117C/D1152H,Significantly enhanced channel open probability +CFTR,R117C/D1270N,Significantly enhanced channel open probability +CFTR,D579G/R117C,Significantly enhanced channel open probability +CFTR,E193K/R117C,Significantly enhanced channel open probability +CFTR,E56K/R117C,Significantly enhanced channel open probability +CFTR,E831X/R117C,Significantly enhanced channel open probability +CFTR,R117C/F1052V,Significantly enhanced channel open probability +CFTR,R117C/F1074L,Significantly enhanced channel open probability +CFTR,R117C/G1069R,Significantly enhanced channel open probability +CFTR,R117C/G1244E,Significantly enhanced channel open probability +CFTR,R117C/G1349D,Significantly enhanced channel open probability +CFTR,G178R/R117C,Significantly enhanced channel open probability +CFTR,G551D/R117C,Increased open channel probability +CFTR,G551S/R117C,Significantly enhanced channel open probability +CFTR,R117C/K1060T,Significantly enhanced channel open probability +CFTR,L206W/R117C,Significantly enhanced channel open probability +CFTR,P67L/R117C,Significantly enhanced channel open probability +CFTR,R117C/R1070Q,Significantly enhanced channel open probability +CFTR,R117C/R1070W,Significantly enhanced channel open probability +CFTR,R117C/R117C,Significantly enhanced channel open probability +CFTR,R117C/R117H,Significantly enhanced channel open probability +CFTR,R117C/R347H,Significantly enhanced channel open probability +CFTR,R117C/R352Q,Significantly enhanced channel open probability +CFTR,R74W/R117C,Significantly enhanced channel open probability +CFTR,R117C/S1251N,Significantly enhanced channel open probability +CFTR,R117C/S1255P,Significantly enhanced channel open probability +CFTR,R117C/S549N,Significantly enhanced channel open probability +CFTR,R117C/S549R(A>C),Significantly enhanced channel open probability +CFTR,R117C/S549R(T>G),Significantly enhanced channel open probability +CFTR,R117C/S945L,Significantly enhanced channel open probability +CFTR,R117C/S977F,Significantly enhanced channel open probability +CFTR,Reference/R117H,Significantly enhanced channel open probability +CFTR,R117H/F508del,Significantly enhanced channel open probability +CFTR,R117H/2789+5G->A,Significantly enhanced channel open probability +CFTR,R117H/3272-26A->G,Significantly enhanced channel open probability +CFTR,R117H/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R117H/711+3A->G,Significantly enhanced channel open probability +CFTR,R117H/A1067T,Significantly enhanced channel open probability +CFTR,A455E/R117H,Significantly enhanced channel open probability +CFTR,D110E/R117H,Significantly enhanced channel open probability +CFTR,D110H/R117H,Significantly enhanced channel open probability +CFTR,R117H/D1152H,Significantly enhanced channel open probability +CFTR,R117H/D1270N,Significantly enhanced channel open probability +CFTR,D579G/R117H,Significantly enhanced channel open probability +CFTR,E193K/R117H,Significantly enhanced channel open probability +CFTR,E56K/R117H,Significantly enhanced channel open probability +CFTR,E831X/R117H,Significantly enhanced channel open probability +CFTR,R117H/F1052V,Significantly enhanced channel open probability +CFTR,R117H/F1074L,Significantly enhanced channel open probability +CFTR,R117H/G1069R,Significantly enhanced channel open probability +CFTR,R117H/G1244E,Significantly enhanced channel open probability +CFTR,R117H/G1349D,Significantly enhanced channel open probability +CFTR,G178R/R117H,Significantly enhanced channel open probability +CFTR,G551D/R117H,Increased open channel probability +CFTR,G551S/R117H,Significantly enhanced channel open probability +CFTR,R117H/K1060T,Significantly enhanced channel open probability +CFTR,L206W/R117H,Significantly enhanced channel open probability +CFTR,P67L/R117H,Significantly enhanced channel open probability +CFTR,R117H/R1070Q,Significantly enhanced channel open probability +CFTR,R117H/R1070W,Significantly enhanced channel open probability +CFTR,R117C/R117H,Significantly enhanced channel open probability +CFTR,R117H/R117H,Significantly enhanced channel open probability +CFTR,R117H/R347H,Significantly enhanced channel open probability +CFTR,R117H/R352Q,Significantly enhanced channel open probability +CFTR,R74W/R117H,Significantly enhanced channel open probability +CFTR,R117H/S1251N,Significantly enhanced channel open probability +CFTR,R117H/S1255P,Significantly enhanced channel open probability +CFTR,R117H/S549N,Significantly enhanced channel open probability +CFTR,R117H/S549R(A>C),Significantly enhanced channel open probability +CFTR,R117H/S549R(T>G),Significantly enhanced channel open probability +CFTR,R117H/S945L,Significantly enhanced channel open probability +CFTR,R117H/S977F,Significantly enhanced channel open probability +CFTR,Reference/R347H,Significantly enhanced channel open probability +CFTR,R347H/F508del,Significantly enhanced channel open probability +CFTR,R347H/2789+5G->A,Significantly enhanced channel open probability +CFTR,R347H/3272-26A->G,Significantly enhanced channel open probability +CFTR,R347H/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R347H/711+3A->G,Significantly enhanced channel open probability +CFTR,R347H/A1067T,Significantly enhanced channel open probability +CFTR,A455E/R347H,Significantly enhanced channel open probability +CFTR,D110E/R347H,Significantly enhanced channel open probability +CFTR,D110H/R347H,Significantly enhanced channel open probability +CFTR,R347H/D1152H,Significantly enhanced channel open probability +CFTR,R347H/D1270N,Significantly enhanced channel open probability +CFTR,D579G/R347H,Significantly enhanced channel open probability +CFTR,E193K/R347H,Significantly enhanced channel open probability +CFTR,E56K/R347H,Significantly enhanced channel open probability +CFTR,E831X/R347H,Significantly enhanced channel open probability +CFTR,R347H/F1052V,Significantly enhanced channel open probability +CFTR,R347H/F1074L,Significantly enhanced channel open probability +CFTR,R347H/G1069R,Significantly enhanced channel open probability +CFTR,R347H/G1244E,Significantly enhanced channel open probability +CFTR,R347H/G1349D,Significantly enhanced channel open probability +CFTR,G178R/R347H,Significantly enhanced channel open probability +CFTR,G551D/R347H,Increased open channel probability +CFTR,G551S/R347H,Significantly enhanced channel open probability +CFTR,R347H/K1060T,Significantly enhanced channel open probability +CFTR,L206W/R347H,Significantly enhanced channel open probability +CFTR,P67L/R347H,Significantly enhanced channel open probability +CFTR,R347H/R1070Q,Significantly enhanced channel open probability +CFTR,R347H/R1070W,Significantly enhanced channel open probability +CFTR,R117C/R347H,Significantly enhanced channel open probability +CFTR,R117H/R347H,Significantly enhanced channel open probability +CFTR,R347H/R347H,Significantly enhanced channel open probability +CFTR,R347H/R352Q,Significantly enhanced channel open probability +CFTR,R74W/R347H,Significantly enhanced channel open probability +CFTR,R347H/S1251N,Significantly enhanced channel open probability +CFTR,R347H/S1255P,Significantly enhanced channel open probability +CFTR,R347H/S549N,Significantly enhanced channel open probability +CFTR,R347H/S549R(A>C),Significantly enhanced channel open probability +CFTR,R347H/S549R(T>G),Significantly enhanced channel open probability +CFTR,R347H/S945L,Significantly enhanced channel open probability +CFTR,R347H/S977F,Significantly enhanced channel open probability +CFTR,Reference/R352Q,Significantly enhanced channel open probability +CFTR,R352Q/F508del,Significantly enhanced channel open probability +CFTR,R352Q/2789+5G->A,Significantly enhanced channel open probability +CFTR,R352Q/3272-26A->G,Significantly enhanced channel open probability +CFTR,R352Q/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R352Q/711+3A->G,Significantly enhanced channel open probability +CFTR,R352Q/A1067T,Significantly enhanced channel open probability +CFTR,A455E/R352Q,Significantly enhanced channel open probability +CFTR,D110E/R352Q,Significantly enhanced channel open probability +CFTR,D110H/R352Q,Significantly enhanced channel open probability +CFTR,R352Q/D1152H,Significantly enhanced channel open probability +CFTR,R352Q/D1270N,Significantly enhanced channel open probability +CFTR,D579G/R352Q,Significantly enhanced channel open probability +CFTR,E193K/R352Q,Significantly enhanced channel open probability +CFTR,E56K/R352Q,Significantly enhanced channel open probability +CFTR,E831X/R352Q,Significantly enhanced channel open probability +CFTR,R352Q/F1052V,Significantly enhanced channel open probability +CFTR,R352Q/F1074L,Significantly enhanced channel open probability +CFTR,R352Q/G1069R,Significantly enhanced channel open probability +CFTR,R352Q/G1244E,Significantly enhanced channel open probability +CFTR,R352Q/G1349D,Significantly enhanced channel open probability +CFTR,G178R/R352Q,Significantly enhanced channel open probability +CFTR,G551D/R352Q,Increased open channel probability +CFTR,G551S/R352Q,Significantly enhanced channel open probability +CFTR,R352Q/K1060T,Significantly enhanced channel open probability +CFTR,L206W/R352Q,Significantly enhanced channel open probability +CFTR,P67L/R352Q,Significantly enhanced channel open probability +CFTR,R352Q/R1070Q,Significantly enhanced channel open probability +CFTR,R352Q/R1070W,Significantly enhanced channel open probability +CFTR,R117C/R352Q,Significantly enhanced channel open probability +CFTR,R117H/R352Q,Significantly enhanced channel open probability +CFTR,R347H/R352Q,Significantly enhanced channel open probability +CFTR,R352Q/R352Q,Significantly enhanced channel open probability +CFTR,R74W/R352Q,Significantly enhanced channel open probability +CFTR,R352Q/S1251N,Significantly enhanced channel open probability +CFTR,R352Q/S1255P,Significantly enhanced channel open probability +CFTR,R352Q/S549N,Significantly enhanced channel open probability +CFTR,R352Q/S549R(A>C),Significantly enhanced channel open probability +CFTR,R352Q/S549R(T>G),Significantly enhanced channel open probability +CFTR,R352Q/S945L,Significantly enhanced channel open probability +CFTR,R352Q/S977F,Significantly enhanced channel open probability +CFTR,Reference/R74W,Significantly enhanced channel open probability +CFTR,R74W/F508del,Significantly enhanced channel open probability +CFTR,R74W/2789+5G->A,Significantly enhanced channel open probability +CFTR,R74W/3272-26A->G,Significantly enhanced channel open probability +CFTR,R74W/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,R74W/711+3A->G,Significantly enhanced channel open probability +CFTR,R74W/A1067T,Significantly enhanced channel open probability +CFTR,R74W/A455E,Significantly enhanced channel open probability +CFTR,R74W/D110E,Significantly enhanced channel open probability +CFTR,R74W/D110H,Significantly enhanced channel open probability +CFTR,R74W/D1152H,Significantly enhanced channel open probability +CFTR,R74W/D1270N,Significantly enhanced channel open probability +CFTR,R74W/D579G,Significantly enhanced channel open probability +CFTR,R74W/E193K,Significantly enhanced channel open probability +CFTR,E56K/R74W,Significantly enhanced channel open probability +CFTR,R74W/E831X,Significantly enhanced channel open probability +CFTR,R74W/F1052V,Significantly enhanced channel open probability +CFTR,R74W/F1074L,Significantly enhanced channel open probability +CFTR,R74W/G1069R,Significantly enhanced channel open probability +CFTR,R74W/G1244E,Significantly enhanced channel open probability +CFTR,R74W/G1349D,Significantly enhanced channel open probability +CFTR,R74W/G178R,Significantly enhanced channel open probability +CFTR,R74W/G551D,Increased open channel probability +CFTR,R74W/G551S,Significantly enhanced channel open probability +CFTR,R74W/K1060T,Significantly enhanced channel open probability +CFTR,R74W/L206W,Significantly enhanced channel open probability +CFTR,P67L/R74W,Significantly enhanced channel open probability +CFTR,R74W/R1070Q,Significantly enhanced channel open probability +CFTR,R74W/R1070W,Significantly enhanced channel open probability +CFTR,R74W/R117C,Significantly enhanced channel open probability +CFTR,R74W/R117H,Significantly enhanced channel open probability +CFTR,R74W/R347H,Significantly enhanced channel open probability +CFTR,R74W/R352Q,Significantly enhanced channel open probability +CFTR,R74W/R74W,Significantly enhanced channel open probability +CFTR,R74W/S1251N,Significantly enhanced channel open probability +CFTR,R74W/S1255P,Significantly enhanced channel open probability +CFTR,R74W/S549N,Significantly enhanced channel open probability +CFTR,R74W/S549R(A>C),Significantly enhanced channel open probability +CFTR,R74W/S549R(T>G),Significantly enhanced channel open probability +CFTR,R74W/S945L,Significantly enhanced channel open probability +CFTR,R74W/S977F,Significantly enhanced channel open probability +CFTR,Reference/S1251N,Significantly enhanced channel open probability +CFTR,S1251N/F508del,Significantly enhanced channel open probability +CFTR,S1251N/2789+5G->A,Significantly enhanced channel open probability +CFTR,S1251N/3272-26A->G,Significantly enhanced channel open probability +CFTR,S1251N/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,S1251N/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/S1251N,Significantly enhanced channel open probability +CFTR,A455E/S1251N,Significantly enhanced channel open probability +CFTR,D110E/S1251N,Significantly enhanced channel open probability +CFTR,D110H/S1251N,Significantly enhanced channel open probability +CFTR,D1152H/S1251N,Significantly enhanced channel open probability +CFTR,D1270N/S1251N,Significantly enhanced channel open probability +CFTR,D579G/S1251N,Significantly enhanced channel open probability +CFTR,E193K/S1251N,Significantly enhanced channel open probability +CFTR,E56K/S1251N,Significantly enhanced channel open probability +CFTR,E831X/S1251N,Significantly enhanced channel open probability +CFTR,F1052V/S1251N,Significantly enhanced channel open probability +CFTR,F1074L/S1251N,Significantly enhanced channel open probability +CFTR,G1069R/S1251N,Significantly enhanced channel open probability +CFTR,G1244E/S1251N,Significantly enhanced channel open probability +CFTR,G1349D/S1251N,Significantly enhanced channel open probability +CFTR,G178R/S1251N,Significantly enhanced channel open probability +CFTR,G551D/S1251N,Increased open channel probability +CFTR,G551S/S1251N,Significantly enhanced channel open probability +CFTR,K1060T/S1251N,Significantly enhanced channel open probability +CFTR,L206W/S1251N,Significantly enhanced channel open probability +CFTR,P67L/S1251N,Significantly enhanced channel open probability +CFTR,R1070Q/S1251N,Significantly enhanced channel open probability +CFTR,R1070W/S1251N,Significantly enhanced channel open probability +CFTR,R117C/S1251N,Significantly enhanced channel open probability +CFTR,R117H/S1251N,Significantly enhanced channel open probability +CFTR,R347H/S1251N,Significantly enhanced channel open probability +CFTR,R352Q/S1251N,Significantly enhanced channel open probability +CFTR,R74W/S1251N,Significantly enhanced channel open probability +CFTR,S1251N/S1251N,Significantly enhanced channel open probability +CFTR,S1251N/S1255P,Significantly enhanced channel open probability +CFTR,S549N/S1251N,Significantly enhanced channel open probability +CFTR,S1251N/S549R(A>C),Significantly enhanced channel open probability +CFTR,S1251N/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/S1251N,Significantly enhanced channel open probability +CFTR,S977F/S1251N,Significantly enhanced channel open probability +CFTR,Reference/S1255P,Significantly enhanced channel open probability +CFTR,S1255P/F508del,Significantly enhanced channel open probability +CFTR,S1255P/2789+5G->A,Significantly enhanced channel open probability +CFTR,S1255P/3272-26A->G,Significantly enhanced channel open probability +CFTR,S1255P/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,S1255P/711+3A->G,Significantly enhanced channel open probability +CFTR,A1067T/S1255P,Significantly enhanced channel open probability +CFTR,A455E/S1255P,Significantly enhanced channel open probability +CFTR,D110E/S1255P,Significantly enhanced channel open probability +CFTR,D110H/S1255P,Significantly enhanced channel open probability +CFTR,D1152H/S1255P,Significantly enhanced channel open probability +CFTR,D1270N/S1255P,Significantly enhanced channel open probability +CFTR,D579G/S1255P,Significantly enhanced channel open probability +CFTR,E193K/S1255P,Significantly enhanced channel open probability +CFTR,E56K/S1255P,Significantly enhanced channel open probability +CFTR,E831X/S1255P,Significantly enhanced channel open probability +CFTR,F1052V/S1255P,Significantly enhanced channel open probability +CFTR,F1074L/S1255P,Significantly enhanced channel open probability +CFTR,G1069R/S1255P,Significantly enhanced channel open probability +CFTR,G1244E/S1255P,Significantly enhanced channel open probability +CFTR,G1349D/S1255P,Significantly enhanced channel open probability +CFTR,G178R/S1255P,Significantly enhanced channel open probability +CFTR,G551D/S1255P,Increased open channel probability +CFTR,G551S/S1255P,Significantly enhanced channel open probability +CFTR,K1060T/S1255P,Significantly enhanced channel open probability +CFTR,L206W/S1255P,Significantly enhanced channel open probability +CFTR,P67L/S1255P,Significantly enhanced channel open probability +CFTR,R1070Q/S1255P,Significantly enhanced channel open probability +CFTR,R1070W/S1255P,Significantly enhanced channel open probability +CFTR,R117C/S1255P,Significantly enhanced channel open probability +CFTR,R117H/S1255P,Significantly enhanced channel open probability +CFTR,R347H/S1255P,Significantly enhanced channel open probability +CFTR,R352Q/S1255P,Significantly enhanced channel open probability +CFTR,R74W/S1255P,Significantly enhanced channel open probability +CFTR,S1251N/S1255P,Significantly enhanced channel open probability +CFTR,S1255P/S1255P,Significantly enhanced channel open probability +CFTR,S549N/S1255P,Significantly enhanced channel open probability +CFTR,S1255P/S549R(A>C),Significantly enhanced channel open probability +CFTR,S1255P/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/S1255P,Significantly enhanced channel open probability +CFTR,S977F/S1255P,Significantly enhanced channel open probability +CFTR,Reference/S549N,Significantly enhanced channel open probability +CFTR,S549N/F508del,Significantly enhanced channel open probability +CFTR,S549N/2789+5G->A,Significantly enhanced channel open probability +CFTR,S549N/3272-26A->G,Significantly enhanced channel open probability +CFTR,S549N/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,S549N/711+3A->G,Significantly enhanced channel open probability +CFTR,S549N/A1067T,Significantly enhanced channel open probability +CFTR,A455E/S549N,Significantly enhanced channel open probability +CFTR,D110E/S549N,Significantly enhanced channel open probability +CFTR,D110H/S549N,Significantly enhanced channel open probability +CFTR,S549N/D1152H,Significantly enhanced channel open probability +CFTR,S549N/D1270N,Significantly enhanced channel open probability +CFTR,D579G/S549N,Significantly enhanced channel open probability +CFTR,E193K/S549N,Significantly enhanced channel open probability +CFTR,E56K/S549N,Significantly enhanced channel open probability +CFTR,E831X/S549N,Significantly enhanced channel open probability +CFTR,S549N/F1052V,Significantly enhanced channel open probability +CFTR,S549N/F1074L,Significantly enhanced channel open probability +CFTR,S549N/G1069R,Significantly enhanced channel open probability +CFTR,S549N/G1244E,Significantly enhanced channel open probability +CFTR,S549N/G1349D,Significantly enhanced channel open probability +CFTR,G178R/S549N,Significantly enhanced channel open probability +CFTR,G551D/S549N,Increased open channel probability +CFTR,G551S/S549N,Significantly enhanced channel open probability +CFTR,S549N/K1060T,Significantly enhanced channel open probability +CFTR,L206W/S549N,Significantly enhanced channel open probability +CFTR,P67L/S549N,Significantly enhanced channel open probability +CFTR,S549N/R1070Q,Significantly enhanced channel open probability +CFTR,S549N/R1070W,Significantly enhanced channel open probability +CFTR,R117C/S549N,Significantly enhanced channel open probability +CFTR,R117H/S549N,Significantly enhanced channel open probability +CFTR,R347H/S549N,Significantly enhanced channel open probability +CFTR,R352Q/S549N,Significantly enhanced channel open probability +CFTR,R74W/S549N,Significantly enhanced channel open probability +CFTR,S549N/S1251N,Significantly enhanced channel open probability +CFTR,S549N/S1255P,Significantly enhanced channel open probability +CFTR,S549N/S549N,Significantly enhanced channel open probability +CFTR,S549N/S549R(A>C),Significantly enhanced channel open probability +CFTR,S549N/S549R(T>G),Significantly enhanced channel open probability +CFTR,S549N/S945L,Significantly enhanced channel open probability +CFTR,S549N/S977F,Significantly enhanced channel open probability +CFTR,Reference/S549R(A>C),Significantly enhanced channel open probability +CFTR,F508del/S549R(A>C),Significantly enhanced channel open probability +CFTR,2789+5G->A/S549R(A>C),Significantly enhanced channel open probability +CFTR,S549R(A>C)/3272-26A->G,Significantly enhanced channel open probability +CFTR,S549R(A>C)/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,711+3A->G/S549R(A>C),Significantly enhanced channel open probability +CFTR,A1067T/S549R(A>C),Significantly enhanced channel open probability +CFTR,A455E/S549R(A>C),Significantly enhanced channel open probability +CFTR,D110E/S549R(A>C),Significantly enhanced channel open probability +CFTR,D110H/S549R(A>C),Significantly enhanced channel open probability +CFTR,D1152H/S549R(A>C),Significantly enhanced channel open probability +CFTR,D1270N/S549R(A>C),Significantly enhanced channel open probability +CFTR,D579G/S549R(A>C),Significantly enhanced channel open probability +CFTR,E193K/S549R(A>C),Significantly enhanced channel open probability +CFTR,E56K/S549R(A>C),Significantly enhanced channel open probability +CFTR,E831X/S549R(A>C),Significantly enhanced channel open probability +CFTR,F1052V/S549R(A>C),Significantly enhanced channel open probability +CFTR,F1074L/S549R(A>C),Significantly enhanced channel open probability +CFTR,G1069R/S549R(A>C),Significantly enhanced channel open probability +CFTR,G1244E/S549R(A>C),Significantly enhanced channel open probability +CFTR,G1349D/S549R(A>C),Significantly enhanced channel open probability +CFTR,G178R/S549R(A>C),Significantly enhanced channel open probability +CFTR,G551D/S549R(A>C),Increased open channel probability +CFTR,G551S/S549R(A>C),Significantly enhanced channel open probability +CFTR,K1060T/S549R(A>C),Significantly enhanced channel open probability +CFTR,L206W/S549R(A>C),Significantly enhanced channel open probability +CFTR,P67L/S549R(A>C),Significantly enhanced channel open probability +CFTR,R1070Q/S549R(A>C),Significantly enhanced channel open probability +CFTR,R1070W/S549R(A>C),Significantly enhanced channel open probability +CFTR,R117C/S549R(A>C),Significantly enhanced channel open probability +CFTR,R117H/S549R(A>C),Significantly enhanced channel open probability +CFTR,R347H/S549R(A>C),Significantly enhanced channel open probability +CFTR,R352Q/S549R(A>C),Significantly enhanced channel open probability +CFTR,R74W/S549R(A>C),Significantly enhanced channel open probability +CFTR,S1251N/S549R(A>C),Significantly enhanced channel open probability +CFTR,S1255P/S549R(A>C),Significantly enhanced channel open probability +CFTR,S549N/S549R(A>C),Significantly enhanced channel open probability +CFTR,S549R(A>C)/S549R(A>C),Significantly enhanced channel open probability +CFTR,S549R(A>C)/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/S549R(A>C),Significantly enhanced channel open probability +CFTR,S977F/S549R(A>C),Significantly enhanced channel open probability +CFTR,Reference/S549R(T>G),Significantly enhanced channel open probability +CFTR,F508del/S549R(T>G),Significantly enhanced channel open probability +CFTR,2789+5G->A/S549R(T>G),Significantly enhanced channel open probability +CFTR,S549R(T>G)/3272-26A->G,Significantly enhanced channel open probability +CFTR,S549R(T>G)/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,711+3A->G/S549R(T>G),Significantly enhanced channel open probability +CFTR,A1067T/S549R(T>G),Significantly enhanced channel open probability +CFTR,A455E/S549R(T>G),Significantly enhanced channel open probability +CFTR,D110E/S549R(T>G),Significantly enhanced channel open probability +CFTR,D110H/S549R(T>G),Significantly enhanced channel open probability +CFTR,D1152H/S549R(T>G),Significantly enhanced channel open probability +CFTR,D1270N/S549R(T>G),Significantly enhanced channel open probability +CFTR,D579G/S549R(T>G),Significantly enhanced channel open probability +CFTR,E193K/S549R(T>G),Significantly enhanced channel open probability +CFTR,E56K/S549R(T>G),Significantly enhanced channel open probability +CFTR,E831X/S549R(T>G),Significantly enhanced channel open probability +CFTR,F1052V/S549R(T>G),Significantly enhanced channel open probability +CFTR,F1074L/S549R(T>G),Significantly enhanced channel open probability +CFTR,G1069R/S549R(T>G),Significantly enhanced channel open probability +CFTR,G1244E/S549R(T>G),Significantly enhanced channel open probability +CFTR,G1349D/S549R(T>G),Significantly enhanced channel open probability +CFTR,G178R/S549R(T>G),Significantly enhanced channel open probability +CFTR,G551D/S549R(T>G),Increased open channel probability +CFTR,G551S/S549R(T>G),Significantly enhanced channel open probability +CFTR,K1060T/S549R(T>G),Significantly enhanced channel open probability +CFTR,L206W/S549R(T>G),Significantly enhanced channel open probability +CFTR,P67L/S549R(T>G),Significantly enhanced channel open probability +CFTR,R1070Q/S549R(T>G),Significantly enhanced channel open probability +CFTR,R1070W/S549R(T>G),Significantly enhanced channel open probability +CFTR,R117C/S549R(T>G),Significantly enhanced channel open probability +CFTR,R117H/S549R(T>G),Significantly enhanced channel open probability +CFTR,R347H/S549R(T>G),Significantly enhanced channel open probability +CFTR,R352Q/S549R(T>G),Significantly enhanced channel open probability +CFTR,R74W/S549R(T>G),Significantly enhanced channel open probability +CFTR,S1251N/S549R(T>G),Significantly enhanced channel open probability +CFTR,S1255P/S549R(T>G),Significantly enhanced channel open probability +CFTR,S549N/S549R(T>G),Significantly enhanced channel open probability +CFTR,S549R(A>C)/S549R(T>G),Significantly enhanced channel open probability +CFTR,S549R(T>G)/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/S549R(T>G),Significantly enhanced channel open probability +CFTR,S977F/S549R(T>G),Significantly enhanced channel open probability +CFTR,Reference/S945L,Significantly enhanced channel open probability +CFTR,S945L/F508del,Significantly enhanced channel open probability +CFTR,S945L/2789+5G->A,Significantly enhanced channel open probability +CFTR,S945L/3272-26A->G,Significantly enhanced channel open probability +CFTR,S945L/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,S945L/711+3A->G,Significantly enhanced channel open probability +CFTR,S945L/A1067T,Significantly enhanced channel open probability +CFTR,A455E/S945L,Significantly enhanced channel open probability +CFTR,D110E/S945L,Significantly enhanced channel open probability +CFTR,D110H/S945L,Significantly enhanced channel open probability +CFTR,S945L/D1152H,Significantly enhanced channel open probability +CFTR,S945L/D1270N,Significantly enhanced channel open probability +CFTR,D579G/S945L,Significantly enhanced channel open probability +CFTR,E193K/S945L,Significantly enhanced channel open probability +CFTR,E56K/S945L,Significantly enhanced channel open probability +CFTR,E831X/S945L,Significantly enhanced channel open probability +CFTR,S945L/F1052V,Significantly enhanced channel open probability +CFTR,S945L/F1074L,Significantly enhanced channel open probability +CFTR,S945L/G1069R,Significantly enhanced channel open probability +CFTR,S945L/G1244E,Significantly enhanced channel open probability +CFTR,S945L/G1349D,Significantly enhanced channel open probability +CFTR,G178R/S945L,Significantly enhanced channel open probability +CFTR,G551D/S945L,Increased open channel probability +CFTR,G551S/S945L,Significantly enhanced channel open probability +CFTR,S945L/K1060T,Significantly enhanced channel open probability +CFTR,L206W/S945L,Significantly enhanced channel open probability +CFTR,P67L/S945L,Significantly enhanced channel open probability +CFTR,S945L/R1070Q,Significantly enhanced channel open probability +CFTR,S945L/R1070W,Significantly enhanced channel open probability +CFTR,R117C/S945L,Significantly enhanced channel open probability +CFTR,R117H/S945L,Significantly enhanced channel open probability +CFTR,R347H/S945L,Significantly enhanced channel open probability +CFTR,R352Q/S945L,Significantly enhanced channel open probability +CFTR,R74W/S945L,Significantly enhanced channel open probability +CFTR,S945L/S1251N,Significantly enhanced channel open probability +CFTR,S945L/S1255P,Significantly enhanced channel open probability +CFTR,S549N/S945L,Significantly enhanced channel open probability +CFTR,S945L/S549R(A>C),Significantly enhanced channel open probability +CFTR,S945L/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/S945L,Significantly enhanced channel open probability +CFTR,S945L/S977F,Significantly enhanced channel open probability +CFTR,Reference/S977F,Significantly enhanced channel open probability +CFTR,S977F/F508del,Significantly enhanced channel open probability +CFTR,S977F/2789+5G->A,Significantly enhanced channel open probability +CFTR,S977F/3272-26A->G,Significantly enhanced channel open probability +CFTR,S977F/3849+10kbC->T,Significantly enhanced channel open probability +CFTR,S977F/711+3A->G,Significantly enhanced channel open probability +CFTR,S977F/A1067T,Significantly enhanced channel open probability +CFTR,A455E/S977F,Significantly enhanced channel open probability +CFTR,D110E/S977F,Significantly enhanced channel open probability +CFTR,D110H/S977F,Significantly enhanced channel open probability +CFTR,S977F/D1152H,Significantly enhanced channel open probability +CFTR,S977F/D1270N,Significantly enhanced channel open probability +CFTR,D579G/S977F,Significantly enhanced channel open probability +CFTR,E193K/S977F,Significantly enhanced channel open probability +CFTR,E56K/S977F,Significantly enhanced channel open probability +CFTR,E831X/S977F,Significantly enhanced channel open probability +CFTR,S977F/F1052V,Significantly enhanced channel open probability +CFTR,S977F/F1074L,Significantly enhanced channel open probability +CFTR,S977F/G1069R,Significantly enhanced channel open probability +CFTR,S977F/G1244E,Significantly enhanced channel open probability +CFTR,S977F/G1349D,Significantly enhanced channel open probability +CFTR,G178R/S977F,Significantly enhanced channel open probability +CFTR,G551D/S977F,Increased open channel probability +CFTR,G551S/S977F,Significantly enhanced channel open probability +CFTR,S977F/K1060T,Significantly enhanced channel open probability +CFTR,L206W/S977F,Significantly enhanced channel open probability +CFTR,P67L/S977F,Significantly enhanced channel open probability +CFTR,S977F/R1070Q,Significantly enhanced channel open probability +CFTR,S977F/R1070W,Significantly enhanced channel open probability +CFTR,R117C/S977F,Significantly enhanced channel open probability +CFTR,R117H/S977F,Significantly enhanced channel open probability +CFTR,R347H/S977F,Significantly enhanced channel open probability +CFTR,R352Q/S977F,Significantly enhanced channel open probability +CFTR,R74W/S977F,Significantly enhanced channel open probability +CFTR,S977F/S1251N,Significantly enhanced channel open probability +CFTR,S977F/S1255P,Significantly enhanced channel open probability +CFTR,S549N/S977F,Significantly enhanced channel open probability +CFTR,S977F/S549R(A>C),Significantly enhanced channel open probability +CFTR,S977F/S549R(T>G),Significantly enhanced channel open probability +CFTR,S945L/S977F,Significantly enhanced channel open probability +CFTR,S977F/S977F,Significantly enhanced channel open probability \ No newline at end of file diff --git a/pypgx/api/data/gene-table.csv b/pypgx/api/data/gene-table.csv index b126c0b1..10bfb484 100644 --- a/pypgx/api/data/gene-table.csv +++ b/pypgx/api/data/gene-table.csv @@ -1,7 +1,7 @@ Gene,Target,Control,Paralog,Variants,SV,PhenotypeMethod,CPIC,PharmVar,RefAllele,GRCh37Default,GRCh38Default,Strand,GRCh37Region,GRCh38Region,GRCh37ExonStarts,GRCh37ExonEnds,GRCh38ExonStarts,GRCh38ExonEnds ABCB1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*1,*2,*2,-,7:87130178-87345639,7:87500862-87716323,"87133178,87135212,87138590,87144546,87145824,87148641,87150091,87160609,87165773,87168583,87170672,87173444,87174138,87175178,87178663,87179166,87179486,87179783,87180040,87183076,87190578,87195385,87196100,87199487,87214827,87225081,87229432,87230070,87342476,","87133765,87135359,87138797,87144744,87145981,87148782,87150192,87160813,87165857,87168661,87170780,87173591,87174315,87175340,87178834,87179370,87179612,87179894,87180154,87183248,87190703,87195557,87196292,87199539,87214996,87225130,87229506,87230394,87342639,","87503862,87505896,87509274,87515230,87516508,87519325,87520775,87531293,87536457,87539267,87541356,87544128,87544822,87545862,87549347,87549850,87550170,87550467,87550724,87553760,87561262,87566069,87566784,87570171,87585511,87595765,87600116,87600754,87713160,","87504449,87506043,87509481,87515428,87516665,87519466,87520876,87531497,87536541,87539345,87541464,87544275,87544999,87546024,87549518,87550054,87550296,87550578,87550838,87553932,87561387,87566241,87566976,87570223,87585680,87595814,87600190,87601078,87713323," CACNA1S,TRUE,FALSE,N/A,TRUE,FALSE,Diplotype,8/28/21,N/A,Reference,Reference,Reference,-,1:201005639-201084694,1:201036511-201115426,"201008639,201009358,201009749,201010631,201012408,201013455,201016242,201016652,201017709,201018130,201019516,201020111,201021684,201022336,201022586,201023632,201027535,201028316,201029785,201030394,201031071,201031589,201034965,201035356,201036014,201038264,201038599,201039399,201041882,201042676,201043633,201044622,201046047,201047006,201052289,201054077,201054563,201056953,201058385,201060767,201061099,201063009,201079291,201081315,","201009210,201009502,201009841,201010717,201012659,201013584,201016367,201016754,201017812,201018227,201019644,201020271,201021776,201022402,201022715,201023689,201027619,201028427,201029944,201030596,201031218,201031642,201035073,201035444,201036121,201038324,201038729,201039532,201041952,201042770,201043748,201044743,201046255,201047232,201052450,201054159,201054709,201057057,201058591,201060920,201061242,201063149,201079397,201081694,","201039511,201040230,201040621,201041503,201043280,201044327,201047114,201047524,201048581,201049002,201050388,201050983,201052556,201053208,201053458,201054504,201058407,201059188,201060657,201061266,201061943,201062461,201065837,201066228,201066886,201069136,201069471,201070271,201072754,201073548,201074505,201075494,201076919,201077878,201083161,201084949,201085435,201087825,201089257,201091639,201091971,201093881,201110163,201112187,","201040082,201040374,201040713,201041589,201043531,201044456,201047239,201047626,201048684,201049099,201050516,201051143,201052648,201053274,201053587,201054561,201058491,201059299,201060816,201061468,201062090,201062514,201065945,201066316,201066993,201069196,201069601,201070404,201072824,201073642,201074620,201075615,201077127,201078104,201083322,201085031,201085581,201087929,201089463,201091792,201092114,201094021,201110269,201112426," -CFTR,TRUE,FALSE,N/A,TRUE,FALSE,N/A,8/28/21,N/A,Reference,Reference,Reference,+,7:117117016-117311719,7:117477024-117671665,"117120016,117144306,117149087,117170952,117174329,117175301,117176601,117180153,117182069,117188694,117199517,117227792,117230406,117231987,117234983,117242879,117243585,117246727,117250572,117251634,117254666,117267575,117282491,117292895,117304741,117305512,117306961,","117120201,117144417,117149196,117171168,117174419,117175465,117176727,117180400,117182162,117188877,117199709,117227887,117230493,117232711,117235112,117242917,117243836,117246807,117250723,117251862,117254767,117267824,117282647,117292985,117304914,117305618,117308719,","117480024,117504252,117509033,117530898,117534275,117535247,117536547,117540099,117542015,117548640,117559463,117587738,117590352,117591933,117594929,117602825,117603531,117606673,117610518,117611580,117614612,117627521,117642437,117652841,117664687,117665458,117666907,","117480147,117504363,117509142,117531114,117534365,117535411,117536673,117540346,117542108,117548823,117559655,117587833,117590439,117592657,117595058,117602863,117603782,117606753,117610669,117611808,117614713,117627770,117642593,117652931,117664860,117665564,117668665," +CFTR,TRUE,FALSE,N/A,TRUE,FALSE,Diplotype,8/28/21,N/A,Reference,Reference,Reference,+,7:117117016-117311719,7:117477024-117671665,"117120016,117144306,117149087,117170952,117174329,117175301,117176601,117180153,117182069,117188694,117199517,117227792,117230406,117231987,117234983,117242879,117243585,117246727,117250572,117251634,117254666,117267575,117282491,117292895,117304741,117305512,117306961,","117120201,117144417,117149196,117171168,117174419,117175465,117176727,117180400,117182162,117188877,117199709,117227887,117230493,117232711,117235112,117242917,117243836,117246807,117250723,117251862,117254767,117267824,117282647,117292985,117304914,117305618,117308719,","117480024,117504252,117509033,117530898,117534275,117535247,117536547,117540099,117542015,117548640,117559463,117587738,117590352,117591933,117594929,117602825,117603531,117606673,117610518,117611580,117614612,117627521,117642437,117652841,117664687,117665458,117666907,","117480147,117504363,117509142,117531114,117534365,117535411,117536673,117540346,117542108,117548823,117559655,117587833,117590439,117592657,117595058,117602863,117603782,117606753,117610669,117611808,117614713,117627770,117642593,117652931,117664860,117665564,117668665," CYP1A1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*1,*1,*1,-,15:75008882-75020951,15:74716541-74728528,"75011882,75013307,75013539,75013754,75013931,75014613,75017781,","75013115,75013394,75013663,75013844,75014058,75015464,75017951,","74719541,74720966,74721198,74721413,74721590,74722272,74725440,","74720774,74721053,74721322,74721503,74721717,74723123,74725528," CYP1A2,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*1A,*1A,*1A,+,15:75038183-75051941,15:74745844-74759607,"75041183,75042070,75043529,75044105,75044464,75045524,75047131,","75041238,75042910,75043650,75044195,75044588,75045611,75048941,","74748844,74749729,74751188,74751764,74752123,74753183,74754790,","74748897,74750569,74751309,74751854,74752247,74753270,74756607," CYP1B1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*1,*3,*1,-,2:38291745-38306323,2:38064602-38079181,"38294745,38301488,38302922,","38298453,38302532,38303323,","38067602,38074345,38075779,","38071310,38075389,38076181," diff --git a/pypgx/api/data/phenotype-table.csv b/pypgx/api/data/phenotype-table.csv index a42f079a..557855c1 100644 --- a/pypgx/api/data/phenotype-table.csv +++ b/pypgx/api/data/phenotype-table.csv @@ -1,6 +1,10 @@ Gene,Phenotype,Priority CACNA1S,Uncertain Susceptibility,Normal Risk CACNA1S,Malignant Hyperthermia Susceptibility,Abnormal/Priority/High Risk +CFTR,Indeterminate,None +CFTR,Increased open channel probability,None +CFTR,Significantly enhanced channel open probability,None +CFTR,No change in open channel probability,None CYP2B6,Intermediate Metabolizer,Abnormal/Priority/High Risk CYP2B6,Normal Metabolizer,Normal/Routine/Low Risk CYP2B6,Poor Metabolizer,Abnormal/Priority/High Risk From 28b28bee70717a6296a89452b5808bd19c6f1996 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Sun, 12 Dec 2021 15:34:11 +0700 Subject: [PATCH 15/66] Adjustment to CFTR docs/genes.rst Co-authored-by: Seung-been "Steven" Lee --- docs/genes.rst | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/docs/genes.rst b/docs/genes.rst index 1124f599..da8d0572 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -283,7 +283,7 @@ CFTR ===== Phenotype summary for CFTR ------------------------------ +-------------------------- Diplotype-phenotype mapping is used for phenotype prediction. From d910f382e775c88f846653395be5239b430af2e6 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Sun, 12 Dec 2021 15:34:23 +0700 Subject: [PATCH 16/66] Adjustment to CFTR CHANGELOG.rst Co-authored-by: Seung-been "Steven" Lee --- CHANGELOG.rst | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index 110f1ad0..670de6f1 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -10,7 +10,7 @@ Changelog * Update :meth:`api.plot.plot_vcf_allele_fraction` method to accept both VcfFrame[Imported] and VcfFrame[Consolidated] * :issue:`32`: Update :command:`run-ngs-pipeline` method to accept phased VCF as input. In this case, the method will skip statistical haplotype phasing. * :issue:`34`: Update commands :command:`run-ngs-pipeline` and :command:`run-chip-pipeline` to load large VCF files significantly faster by allowing random access. This also means, from now on, input VCF files must be BGZF compressed (.gz) and indexed (.tbi). -* :issue:`36`: Update phenotype data for CACNA1S, IFNL3, RYR1, CFTR. +* :issue:`36`: Update phenotype data for CACNA1S, CFTR, IFNL3, RYR1. 0.9.0 (2021-12-05) ------------------ From 384aa7ec3b0df4ac53cd650dadf472e4db8230c5 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Sun, 12 Dec 2021 15:34:36 +0700 Subject: [PATCH 17/66] Adjustment to CFTR docs/genes.rst summary table Co-authored-by: Seung-been "Steven" Lee --- docs/genes.rst | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/docs/genes.rst b/docs/genes.rst index da8d0572..39df3d4b 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -34,7 +34,7 @@ Below is a summary table: - - ✅ - - * - CFTR + * - :ref:`genes:CFTR` - - ✅ - From ca463a7af919521f35266dd6aef7fec0452e913f Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Sun, 12 Dec 2021 22:27:12 +0700 Subject: [PATCH 18/66] Adjustment to pypgx/api/data/phenotype-table.csv Co-authored-by: Seung-been "Steven" Lee --- pypgx/api/data/phenotype-table.csv | 5 ++--- 1 file changed, 2 insertions(+), 3 deletions(-) diff --git a/pypgx/api/data/phenotype-table.csv b/pypgx/api/data/phenotype-table.csv index 557855c1..c9df5660 100644 --- a/pypgx/api/data/phenotype-table.csv +++ b/pypgx/api/data/phenotype-table.csv @@ -1,10 +1,9 @@ Gene,Phenotype,Priority CACNA1S,Uncertain Susceptibility,Normal Risk CACNA1S,Malignant Hyperthermia Susceptibility,Abnormal/Priority/High Risk +CFTR,Favorable Response,None +CFTR,Unfavorable Response,None CFTR,Indeterminate,None -CFTR,Increased open channel probability,None -CFTR,Significantly enhanced channel open probability,None -CFTR,No change in open channel probability,None CYP2B6,Intermediate Metabolizer,Abnormal/Priority/High Risk CYP2B6,Normal Metabolizer,Normal/Routine/Low Risk CYP2B6,Poor Metabolizer,Abnormal/Priority/High Risk From 9127cb2a29ad29b0bec0a7be058dcb6dc78c8a24 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen Date: Sun, 12 Dec 2021 22:33:57 +0700 Subject: [PATCH 19/66] Adjustment to pypgx/api/data/diplotype-table.csv --- pypgx/api/data/diplotype-table.csv | 2544 ++++++++++------------------ 1 file changed, 862 insertions(+), 1682 deletions(-) diff --git a/pypgx/api/data/diplotype-table.csv b/pypgx/api/data/diplotype-table.csv index 1116d6ab..5a26b1f0 100755 --- a/pypgx/api/data/diplotype-table.csv +++ b/pypgx/api/data/diplotype-table.csv @@ -5,6 +5,867 @@ CACNA1S,Reference/c.3257G>A,Malignant Hyperthermia Susceptibility CACNA1S,c.520C>T/c.520C>T,Malignant Hyperthermia Susceptibility CACNA1S,c.520C>T/c.3257G>A,Malignant Hyperthermia Susceptibility CACNA1S,c.3257G>A/c.3257G>A,Malignant Hyperthermia Susceptibility +CFTR,Reference/F508del,Indeterminate +CFTR,G1069R/G1244E,Favorable Response +CFTR,G1069R/G1349D,Favorable Response +CFTR,G1069R/G178R,Favorable Response +CFTR,G1069R/G551D,Favorable Response +CFTR,G1069R/G551S,Favorable Response +CFTR,G1069R/K1060T,Favorable Response +CFTR,G1069R/L206W,Favorable Response +CFTR,G1069R/P67L,Favorable Response +CFTR,G1069R/R1070Q,Favorable Response +CFTR,G1069R/R1070W,Favorable Response +CFTR,F1074L/S977F,Favorable Response +CFTR,G1069R/R117C,Favorable Response +CFTR,G1069R/R347H,Favorable Response +CFTR,G1069R/R352Q,Favorable Response +CFTR,G1069R/R74W,Favorable Response +CFTR,G1069R/S1251N,Favorable Response +CFTR,G1069R/S1255P,Favorable Response +CFTR,G1069R/S549N,Favorable Response +CFTR,G1069R/S549R(A>C),Favorable Response +CFTR,G1069R/S549R(T>G),Favorable Response +CFTR,G1069R/S945L,Favorable Response +CFTR,G1069R/S977F,Favorable Response +CFTR,G1069R/R117H,Favorable Response +CFTR,F1074L/S945L,Favorable Response +CFTR,F1074L/S549R(T>G),Favorable Response +CFTR,F1074L/S549R(A>C),Favorable Response +CFTR,F1052V/S549R(A>C),Favorable Response +CFTR,F1052V/S549R(T>G),Favorable Response +CFTR,F1052V/S945L,Favorable Response +CFTR,F1052V/S977F,Favorable Response +CFTR,F1074L/G1069R,Favorable Response +CFTR,F1074L/G1244E,Favorable Response +CFTR,F1074L/G1349D,Favorable Response +CFTR,F1074L/G178R,Favorable Response +CFTR,F1074L/G551D,Favorable Response +CFTR,F1074L/G551S,Favorable Response +CFTR,F1074L/K1060T,Favorable Response +CFTR,F1074L/L206W,Favorable Response +CFTR,F1074L/P67L,Favorable Response +CFTR,F1074L/R1070Q,Favorable Response +CFTR,F1074L/R1070W,Favorable Response +CFTR,F1074L/R117C,Favorable Response +CFTR,F1074L/R117H,Favorable Response +CFTR,F1074L/R347H,Favorable Response +CFTR,F1074L/R352Q,Favorable Response +CFTR,F1074L/R74W,Favorable Response +CFTR,F1074L/S1251N,Favorable Response +CFTR,F1074L/S1255P,Favorable Response +CFTR,F1074L/S549N,Favorable Response +CFTR,G1244E/G1349D,Favorable Response +CFTR,G1244E/G178R,Favorable Response +CFTR,G1244E/G551D,Favorable Response +CFTR,G1244E/G551S,Favorable Response +CFTR,G1349D/R347H,Favorable Response +CFTR,G1349D/R352Q,Favorable Response +CFTR,G1349D/R74W,Favorable Response +CFTR,G1349D/S1251N,Favorable Response +CFTR,G1349D/S1255P,Favorable Response +CFTR,G1349D/S549N,Favorable Response +CFTR,G1349D/S549R(A>C),Favorable Response +CFTR,G1349D/S549R(T>G),Favorable Response +CFTR,G1349D/S945L,Favorable Response +CFTR,G1349D/S977F,Favorable Response +CFTR,G178R/G551D,Favorable Response +CFTR,G178R/G551S,Favorable Response +CFTR,G178R/K1060T,Favorable Response +CFTR,G178R/L206W,Favorable Response +CFTR,G178R/P67L,Favorable Response +CFTR,G178R/R1070Q,Favorable Response +CFTR,G178R/R1070W,Favorable Response +CFTR,G178R/R117C,Favorable Response +CFTR,G178R/R117H,Favorable Response +CFTR,G178R/R347H,Favorable Response +CFTR,G178R/R352Q,Favorable Response +CFTR,G178R/R74W,Favorable Response +CFTR,G178R/S1251N,Favorable Response +CFTR,G1349D/R117H,Favorable Response +CFTR,F1052V/S549N,Favorable Response +CFTR,G1349D/R117C,Favorable Response +CFTR,G1349D/R1070Q,Favorable Response +CFTR,G1244E/K1060T,Favorable Response +CFTR,G1244E/L206W,Favorable Response +CFTR,G1244E/P67L,Favorable Response +CFTR,G1244E/R1070Q,Favorable Response +CFTR,G1244E/R1070W,Favorable Response +CFTR,G1244E/R117C,Favorable Response +CFTR,G1244E/R117H,Favorable Response +CFTR,G1244E/R347H,Favorable Response +CFTR,G1244E/R352Q,Favorable Response +CFTR,G1244E/R74W,Favorable Response +CFTR,G1244E/S1251N,Favorable Response +CFTR,G1244E/S1255P,Favorable Response +CFTR,G1244E/S549N,Favorable Response +CFTR,G1244E/S549R(A>C),Favorable Response +CFTR,G1244E/S549R(T>G),Favorable Response +CFTR,G1244E/S945L,Favorable Response +CFTR,G1244E/S977F,Favorable Response +CFTR,G1349D/G178R,Favorable Response +CFTR,G1349D/G551D,Favorable Response +CFTR,G1349D/G551S,Favorable Response +CFTR,G1349D/K1060T,Favorable Response +CFTR,G1349D/L206W,Favorable Response +CFTR,G1349D/P67L,Favorable Response +CFTR,G1349D/R1070W,Favorable Response +CFTR,F1052V/S1255P,Favorable Response +CFTR,F1052V/S1251N,Favorable Response +CFTR,F1052V/R74W,Favorable Response +CFTR,E193K/R347H,Favorable Response +CFTR,E193K/R352Q,Favorable Response +CFTR,E193K/R74W,Favorable Response +CFTR,E193K/S1251N,Favorable Response +CFTR,E193K/S1255P,Favorable Response +CFTR,E193K/S549N,Favorable Response +CFTR,E193K/S549R(A>C),Favorable Response +CFTR,E193K/S549R(T>G),Favorable Response +CFTR,E193K/S945L,Favorable Response +CFTR,E193K/S977F,Favorable Response +CFTR,E56K/E831X,Favorable Response +CFTR,E56K/F1052V,Favorable Response +CFTR,E56K/F1074L,Favorable Response +CFTR,E56K/G1069R,Favorable Response +CFTR,E56K/G1244E,Favorable Response +CFTR,E56K/G1349D,Favorable Response +CFTR,E56K/G178R,Favorable Response +CFTR,E56K/G551D,Favorable Response +CFTR,E56K/G551S,Favorable Response +CFTR,E56K/K1060T,Favorable Response +CFTR,E56K/L206W,Favorable Response +CFTR,E56K/P67L,Favorable Response +CFTR,E56K/R1070Q,Favorable Response +CFTR,E193K/R117H,Favorable Response +CFTR,E56K/R1070W,Favorable Response +CFTR,E193K/R117C,Favorable Response +CFTR,E193K/R1070Q,Favorable Response +CFTR,D579G/R347H,Favorable Response +CFTR,D579G/R352Q,Favorable Response +CFTR,D579G/R74W,Favorable Response +CFTR,D579G/S1251N,Favorable Response +CFTR,D579G/S1255P,Favorable Response +CFTR,D579G/S549N,Favorable Response +CFTR,D579G/S549R(A>C),Favorable Response +CFTR,D579G/S549R(T>G),Favorable Response +CFTR,D579G/S945L,Favorable Response +CFTR,D579G/S977F,Favorable Response +CFTR,E193K/E56K,Favorable Response +CFTR,E193K/E831X,Favorable Response +CFTR,E193K/F1052V,Favorable Response +CFTR,E193K/F1074L,Favorable Response +CFTR,E193K/G1069R,Favorable Response +CFTR,E193K/G1244E,Favorable Response +CFTR,E193K/G1349D,Favorable Response +CFTR,E193K/G178R,Favorable Response +CFTR,E193K/G551D,Favorable Response +CFTR,E193K/G551S,Favorable Response +CFTR,E193K/K1060T,Favorable Response +CFTR,E193K/L206W,Favorable Response +CFTR,E193K/P67L,Favorable Response +CFTR,E193K/R1070W,Favorable Response +CFTR,G178R/S1255P,Favorable Response +CFTR,E56K/R117C,Favorable Response +CFTR,E56K/R347H,Favorable Response +CFTR,E831X/S1251N,Favorable Response +CFTR,E831X/S1255P,Favorable Response +CFTR,E831X/S549N,Favorable Response +CFTR,E831X/S549R(A>C),Favorable Response +CFTR,E831X/S549R(T>G),Favorable Response +CFTR,E831X/S945L,Favorable Response +CFTR,E831X/S977F,Favorable Response +CFTR,F1052V/F1074L,Favorable Response +CFTR,F1052V/G1069R,Favorable Response +CFTR,F1052V/G1244E,Favorable Response +CFTR,F1052V/G1349D,Favorable Response +CFTR,F1052V/G178R,Favorable Response +CFTR,F1052V/G551D,Favorable Response +CFTR,F1052V/G551S,Favorable Response +CFTR,F1052V/K1060T,Favorable Response +CFTR,F1052V/L206W,Favorable Response +CFTR,F1052V/P67L,Favorable Response +CFTR,F1052V/R1070Q,Favorable Response +CFTR,F1052V/R1070W,Favorable Response +CFTR,F1052V/R117C,Favorable Response +CFTR,F1052V/R117H,Favorable Response +CFTR,F1052V/R347H,Favorable Response +CFTR,F1052V/R352Q,Favorable Response 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Response +CFTR,E831X/R347H,Favorable Response +CFTR,G178R/S549N,Favorable Response +CFTR,G178R/S549R(A>C),Favorable Response +CFTR,G178R/S549R(T>G),Favorable Response +CFTR,R347H/S945L,Favorable Response +CFTR,R347H/S977F,Favorable Response +CFTR,R352Q/R74W,Favorable Response +CFTR,R352Q/S1251N,Favorable Response +CFTR,R352Q/S1255P,Favorable Response +CFTR,R352Q/S549N,Favorable Response +CFTR,R352Q/S549R(A>C),Favorable Response +CFTR,R352Q/S549R(T>G),Favorable Response +CFTR,R352Q/S945L,Favorable Response +CFTR,R352Q/S977F,Favorable Response +CFTR,R74W/S1251N,Favorable Response +CFTR,R74W/S1255P,Favorable Response +CFTR,R74W/S549N,Favorable Response +CFTR,R74W/S549R(A>C),Favorable Response +CFTR,R74W/S549R(T>G),Favorable Response +CFTR,R74W/S945L,Favorable Response +CFTR,R74W/S977F,Favorable Response +CFTR,S1251N/S1255P,Favorable Response +CFTR,S1251N/S549N,Favorable Response +CFTR,S1251N/S549R(A>C),Favorable Response +CFTR,S1251N/S549R(T>G),Favorable Response +CFTR,S1251N/S945L,Favorable Response +CFTR,S1251N/S977F,Favorable Response +CFTR,R347H/S549R(T>G),Favorable Response +CFTR,S1255P/S549N,Favorable Response +CFTR,R347H/S549R(A>C),Favorable Response +CFTR,R347H/S1255P,Favorable Response +CFTR,R117C/R347H,Favorable Response +CFTR,R117C/R352Q,Favorable Response +CFTR,R117C/R74W,Favorable Response +CFTR,R117C/S1251N,Favorable Response +CFTR,R117C/S1255P,Favorable Response +CFTR,R117C/S549N,Favorable Response +CFTR,R117C/S549R(A>C),Favorable Response +CFTR,R117C/S549R(T>G),Favorable Response +CFTR,R117C/S945L,Favorable Response +CFTR,R117C/S977F,Favorable Response +CFTR,R117H/R347H,Favorable Response +CFTR,R117H/R352Q,Favorable Response +CFTR,R117H/R74W,Favorable Response +CFTR,R117H/S1251N,Favorable Response +CFTR,R117H/S1255P,Favorable Response +CFTR,R117H/S549N,Favorable Response +CFTR,R117H/S549R(A>C),Favorable Response +CFTR,R117H/S549R(T>G),Favorable Response +CFTR,R117H/S945L,Favorable Response +CFTR,R117H/S977F,Favorable Response 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Response +CFTR,711+3A->G/711+3A->G,Favorable Response +CFTR,A1067T/A1067T,Favorable Response +CFTR,A455E/A455E,Favorable Response +CFTR,D110E/D110E,Favorable Response +CFTR,D110H/D110H,Favorable Response +CFTR,D1152H/D1152H,Favorable Response +CFTR,D1270N/D1270N,Favorable Response +CFTR,E193K/E193K,Favorable Response +CFTR,D579G/R117H,Favorable Response +CFTR,R1070W/S977F,Favorable Response +CFTR,R1070W/S549R(T>G),Favorable Response +CFTR,G551S/R347H,Favorable Response +CFTR,G551S/R352Q,Favorable Response +CFTR,G551S/R74W,Favorable Response +CFTR,G551S/S1251N,Favorable Response +CFTR,G551S/S1255P,Favorable Response +CFTR,G551S/S549N,Favorable Response +CFTR,G551S/S549R(A>C),Favorable Response +CFTR,G551S/S549R(T>G),Favorable Response +CFTR,G551S/S945L,Favorable Response +CFTR,G551S/S977F,Favorable Response +CFTR,K1060T/L206W,Favorable Response +CFTR,K1060T/P67L,Favorable Response +CFTR,K1060T/R1070Q,Favorable Response +CFTR,K1060T/R1070W,Favorable Response +CFTR,K1060T/R117C,Favorable 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Response +CFTR,A1067T/P67L,Favorable Response +CFTR,A1067T/R1070Q,Favorable Response +CFTR,A1067T/R1070W,Favorable Response +CFTR,A1067T/R117C,Favorable Response +CFTR,A1067T/R117H,Favorable Response +CFTR,A1067T/R347H,Favorable Response +CFTR,A1067T/R352Q,Favorable Response +CFTR,A1067T/R74W,Favorable Response +CFTR,A1067T/S1251N,Favorable Response +CFTR,A1067T/S1255P,Favorable Response +CFTR,A1067T/S549N,Favorable Response +CFTR,A1067T/S549R(A>C),Favorable Response +CFTR,A1067T/S549R(T>G),Favorable Response +CFTR,A1067T/S945L,Favorable Response +CFTR,A1067T/S977F,Favorable Response +CFTR,A455E/D110E,Favorable Response +CFTR,A455E/D110H,Favorable Response +CFTR,A455E/D1152H,Favorable Response +CFTR,A455E/D1270N,Favorable Response +CFTR,A455E/D579G,Favorable Response +CFTR,A455E/E193K,Favorable Response +CFTR,A455E/E56K,Favorable Response +CFTR,A1067T/K1060T,Favorable Response +CFTR,A455E/E831X,Favorable Response +CFTR,A1067T/G551S,Favorable Response +CFTR,A1067T/G178R,Favorable Response +CFTR,711+3A->G/R352Q,Favorable Response +CFTR,711+3A->G/R74W,Favorable Response +CFTR,711+3A->G/S1251N,Favorable Response +CFTR,711+3A->G/S1255P,Favorable Response +CFTR,711+3A->G/S549N,Favorable Response +CFTR,711+3A->G/S549R(A>C),Favorable Response +CFTR,711+3A->G/S549R(T>G),Favorable Response +CFTR,711+3A->G/S945L,Favorable Response +CFTR,711+3A->G/S977F,Favorable Response +CFTR,A1067T/A455E,Favorable Response +CFTR,A1067T/D110E,Favorable Response +CFTR,A1067T/D110H,Favorable Response +CFTR,A1067T/D1152H,Favorable Response +CFTR,A1067T/D1270N,Favorable Response +CFTR,A1067T/D579G,Favorable Response +CFTR,A1067T/E193K,Favorable Response +CFTR,A1067T/E56K,Favorable Response +CFTR,A1067T/E831X,Favorable Response +CFTR,A1067T/F1052V,Favorable Response +CFTR,A1067T/F1074L,Favorable Response +CFTR,A1067T/G1069R,Favorable Response +CFTR,A1067T/G1244E,Favorable Response +CFTR,A1067T/G1349D,Favorable Response +CFTR,A1067T/G551D,Favorable Response +CFTR,D110E/S549R(T>G),Favorable Response +CFTR,A455E/F1052V,Favorable Response +CFTR,A455E/G1069R,Favorable Response +CFTR,D110E/E56K,Favorable Response +CFTR,D110E/E831X,Favorable Response +CFTR,D110E/F1052V,Favorable Response +CFTR,D110E/F1074L,Favorable Response +CFTR,D110E/G1069R,Favorable Response +CFTR,D110E/G1244E,Favorable Response +CFTR,D110E/G1349D,Favorable Response +CFTR,D110E/G178R,Favorable Response +CFTR,D110E/G551D,Favorable Response +CFTR,D110E/G551S,Favorable Response +CFTR,D110E/K1060T,Favorable Response +CFTR,D110E/L206W,Favorable Response +CFTR,D110E/P67L,Favorable Response +CFTR,D110E/R1070Q,Favorable Response +CFTR,D110E/R1070W,Favorable Response +CFTR,D110E/R117C,Favorable Response +CFTR,D110E/R117H,Favorable Response +CFTR,D110E/R347H,Favorable Response +CFTR,D110E/R352Q,Favorable Response +CFTR,D110E/R74W,Favorable Response +CFTR,D110E/S1251N,Favorable Response +CFTR,D110E/S1255P,Favorable Response +CFTR,D110E/S549N,Favorable Response +CFTR,D110E/E193K,Favorable Response +CFTR,A455E/F1074L,Favorable Response +CFTR,D110E/D579G,Favorable Response +CFTR,D110E/D1152H,Favorable Response +CFTR,A455E/G1244E,Favorable Response +CFTR,A455E/G1349D,Favorable Response +CFTR,A455E/G178R,Favorable Response +CFTR,A455E/G551D,Favorable Response +CFTR,A455E/G551S,Favorable Response +CFTR,A455E/K1060T,Favorable Response +CFTR,A455E/L206W,Favorable Response +CFTR,A455E/P67L,Favorable Response +CFTR,A455E/R1070Q,Favorable Response +CFTR,A455E/R1070W,Favorable Response +CFTR,A455E/R117C,Favorable Response +CFTR,A455E/R117H,Favorable Response +CFTR,A455E/R347H,Favorable Response +CFTR,A455E/R352Q,Favorable Response +CFTR,A455E/R74W,Favorable Response +CFTR,A455E/S1251N,Favorable Response +CFTR,A455E/S1255P,Favorable Response +CFTR,A455E/S549N,Favorable Response +CFTR,A455E/S549R(A>C),Favorable Response +CFTR,A455E/S549R(T>G),Favorable Response +CFTR,A455E/S945L,Favorable Response +CFTR,A455E/S977F,Favorable Response +CFTR,D110E/D110H,Favorable Response +CFTR,D110E/D1270N,Favorable Response +CFTR,S977F/S977F,Favorable Response CYP2B6,*1/*1,Normal Metabolizer CYP2B6,*1/*2,Normal Metabolizer CYP2B6,*1/*3,Indeterminate @@ -4356,1685 +5217,4 @@ UGT1A1,*28/*80+*37,Poor Metabolizer UGT1A1,*36/*80+*37,Intermediate Metabolizer UGT1A1,*37/*80+*37,Poor Metabolizer UGT1A1,*80/*80+*37,Indeterminate -UGT1A1,*80+*37/*80+*37,Poor Metabolizer -CFTR,Reference/Reference,Indeterminate -CFTR,Reference/F508del,Indeterminate -CFTR,Reference/2789+5G->A,Significantly enhanced channel open probability -CFTR,Reference/3272-26A->G,Significantly enhanced channel open probability -CFTR,Reference/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,Reference/711+3A->G,Significantly enhanced channel open probability -CFTR,Reference/A1067T,Significantly enhanced channel open probability -CFTR,Reference/A455E,Significantly enhanced channel open probability -CFTR,Reference/D110E,Significantly enhanced channel open probability -CFTR,Reference/D110H,Significantly enhanced channel open probability -CFTR,Reference/D1152H,Significantly enhanced channel open probability -CFTR,Reference/D1270N,Significantly enhanced channel open probability -CFTR,Reference/D579G,Significantly enhanced channel open probability -CFTR,Reference/E193K,Significantly enhanced channel open probability -CFTR,Reference/E56K,Significantly enhanced channel open probability -CFTR,Reference/E831X,Significantly enhanced channel open probability -CFTR,Reference/F1052V,Significantly enhanced channel open probability -CFTR,Reference/F1074L,Significantly enhanced channel open probability -CFTR,Reference/G1069R,Significantly enhanced channel open probability -CFTR,Reference/G1244E,Significantly enhanced channel open probability -CFTR,Reference/G1349D,Significantly enhanced channel open probability -CFTR,Reference/G178R,Significantly enhanced channel open probability -CFTR,Reference/G551D,Increased open channel probability -CFTR,Reference/G551S,Significantly enhanced channel open probability -CFTR,Reference/K1060T,Significantly enhanced channel open probability -CFTR,Reference/L206W,Significantly enhanced channel open probability -CFTR,Reference/P67L,Significantly enhanced channel open probability -CFTR,Reference/R1070Q,Significantly enhanced channel open probability -CFTR,Reference/R1070W,Significantly enhanced channel open probability -CFTR,Reference/R117C,Significantly enhanced channel open probability -CFTR,Reference/R117H,Significantly enhanced channel open probability -CFTR,Reference/R347H,Significantly enhanced channel open probability -CFTR,Reference/R352Q,Significantly enhanced channel open probability -CFTR,Reference/R74W,Significantly enhanced channel open probability -CFTR,Reference/S1251N,Significantly enhanced channel open probability -CFTR,Reference/S1255P,Significantly enhanced channel open probability -CFTR,Reference/S549N,Significantly enhanced channel open probability -CFTR,Reference/S549R(A>C),Significantly enhanced channel open probability -CFTR,Reference/S549R(T>G),Significantly enhanced channel open probability -CFTR,Reference/S945L,Significantly enhanced channel open probability -CFTR,Reference/S977F,Significantly enhanced channel open probability -CFTR,Reference/F508del,Indeterminate -CFTR,F508del/F508del,No change in open channel probability -CFTR,F508del/2789+5G->A,Significantly enhanced channel open probability -CFTR,F508del/3272-26A->G,Significantly enhanced channel open probability -CFTR,F508del/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,F508del/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/F508del,Significantly enhanced channel open probability -CFTR,A455E/F508del,Significantly enhanced channel open probability -CFTR,D110E/F508del,Significantly enhanced channel open probability -CFTR,D110H/F508del,Significantly enhanced channel open probability -CFTR,D1152H/F508del,Significantly enhanced channel open probability -CFTR,D1270N/F508del,Significantly enhanced channel open probability -CFTR,D579G/F508del,Significantly enhanced channel open probability -CFTR,E193K/F508del,Significantly enhanced channel open probability -CFTR,E56K/F508del,Significantly enhanced channel open probability -CFTR,E831X/F508del,Significantly enhanced channel open probability -CFTR,F1052V/F508del,Significantly enhanced channel open probability -CFTR,F1074L/F508del,Significantly enhanced channel open probability -CFTR,G1069R/F508del,Significantly enhanced channel open probability -CFTR,G1244E/F508del,Significantly enhanced channel open probability -CFTR,G1349D/F508del,Significantly enhanced channel open probability -CFTR,G178R/F508del,Significantly enhanced channel open probability -CFTR,G551D/F508del,Increased open channel probability -CFTR,G551S/F508del,Significantly enhanced channel open probability -CFTR,K1060T/F508del,Significantly enhanced channel open probability -CFTR,L206W/F508del,Significantly enhanced channel open probability -CFTR,P67L/F508del,Significantly enhanced channel open probability -CFTR,R1070Q/F508del,Significantly enhanced channel open probability -CFTR,R1070W/F508del,Significantly enhanced channel open probability -CFTR,R117C/F508del,Significantly enhanced channel open probability -CFTR,R117H/F508del,Significantly enhanced channel open probability -CFTR,R347H/F508del,Significantly enhanced channel open probability -CFTR,R352Q/F508del,Significantly enhanced channel open probability -CFTR,R74W/F508del,Significantly enhanced channel open probability -CFTR,S1251N/F508del,Significantly enhanced channel open probability -CFTR,S1255P/F508del,Significantly enhanced channel open probability -CFTR,S549N/F508del,Significantly enhanced channel open probability -CFTR,F508del/S549R(A>C),Significantly enhanced channel open probability -CFTR,F508del/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/F508del,Significantly enhanced channel open probability -CFTR,S977F/F508del,Significantly enhanced channel open probability -CFTR,Reference/2789+5G->A,Significantly enhanced channel open probability -CFTR,F508del/2789+5G->A,Significantly enhanced channel open probability -CFTR,2789+5G->A/2789+5G->A,Significantly enhanced channel open probability -CFTR,2789+5G->A/3272-26A->G,Significantly enhanced channel open probability -CFTR,2789+5G->A/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,711+3A->G/2789+5G->A,Significantly enhanced channel open probability -CFTR,A1067T/2789+5G->A,Significantly enhanced channel open probability -CFTR,A455E/2789+5G->A,Significantly enhanced channel open probability -CFTR,D110E/2789+5G->A,Significantly enhanced channel open probability -CFTR,D110H/2789+5G->A,Significantly enhanced channel open probability -CFTR,D1152H/2789+5G->A,Significantly enhanced channel open probability -CFTR,D1270N/2789+5G->A,Significantly enhanced channel open probability -CFTR,D579G/2789+5G->A,Significantly enhanced channel open probability -CFTR,E193K/2789+5G->A,Significantly enhanced channel open probability -CFTR,E56K/2789+5G->A,Significantly enhanced channel open probability -CFTR,E831X/2789+5G->A,Significantly enhanced channel open probability -CFTR,F1052V/2789+5G->A,Significantly enhanced channel open probability -CFTR,F1074L/2789+5G->A,Significantly enhanced channel open probability -CFTR,G1069R/2789+5G->A,Significantly enhanced channel open probability -CFTR,G1244E/2789+5G->A,Significantly enhanced channel open probability -CFTR,G1349D/2789+5G->A,Significantly enhanced channel open probability -CFTR,G178R/2789+5G->A,Significantly enhanced channel open probability -CFTR,G551D/2789+5G->A,Increased open channel probability -CFTR,G551S/2789+5G->A,Significantly enhanced channel open probability -CFTR,K1060T/2789+5G->A,Significantly enhanced channel open probability -CFTR,L206W/2789+5G->A,Significantly enhanced channel open probability -CFTR,P67L/2789+5G->A,Significantly enhanced channel open probability -CFTR,R1070Q/2789+5G->A,Significantly enhanced channel open probability -CFTR,R1070W/2789+5G->A,Significantly enhanced channel open probability -CFTR,R117C/2789+5G->A,Significantly enhanced channel open probability -CFTR,R117H/2789+5G->A,Significantly enhanced channel open probability -CFTR,R347H/2789+5G->A,Significantly enhanced channel open probability -CFTR,R352Q/2789+5G->A,Significantly enhanced channel open probability -CFTR,R74W/2789+5G->A,Significantly enhanced channel open probability -CFTR,S1251N/2789+5G->A,Significantly enhanced channel open probability -CFTR,S1255P/2789+5G->A,Significantly enhanced channel open probability -CFTR,S549N/2789+5G->A,Significantly enhanced channel open probability -CFTR,2789+5G->A/S549R(A>C),Significantly enhanced channel open probability -CFTR,2789+5G->A/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/2789+5G->A,Significantly enhanced channel open probability -CFTR,S977F/2789+5G->A,Significantly enhanced channel open probability -CFTR,Reference/3272-26A->G,Significantly enhanced channel open probability -CFTR,F508del/3272-26A->G,Significantly enhanced channel open probability -CFTR,2789+5G->A/3272-26A->G,Significantly enhanced channel open probability -CFTR,3272-26A->G/3272-26A->G,Significantly enhanced channel open probability -CFTR,3272-26A->G/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,711+3A->G/3272-26A->G,Significantly enhanced channel open probability -CFTR,A1067T/3272-26A->G,Significantly enhanced channel open probability -CFTR,A455E/3272-26A->G,Significantly enhanced channel open probability -CFTR,D110E/3272-26A->G,Significantly enhanced channel open probability -CFTR,D110H/3272-26A->G,Significantly enhanced channel open probability -CFTR,D1152H/3272-26A->G,Significantly enhanced channel open probability -CFTR,D1270N/3272-26A->G,Significantly enhanced channel open probability -CFTR,D579G/3272-26A->G,Significantly enhanced channel open probability -CFTR,E193K/3272-26A->G,Significantly enhanced channel open probability -CFTR,E56K/3272-26A->G,Significantly enhanced channel open probability -CFTR,E831X/3272-26A->G,Significantly enhanced channel open probability -CFTR,F1052V/3272-26A->G,Significantly enhanced channel open probability -CFTR,F1074L/3272-26A->G,Significantly enhanced channel open probability -CFTR,G1069R/3272-26A->G,Significantly enhanced channel open probability -CFTR,G1244E/3272-26A->G,Significantly enhanced channel open probability -CFTR,G1349D/3272-26A->G,Significantly enhanced channel open probability -CFTR,G178R/3272-26A->G,Significantly enhanced channel open probability -CFTR,G551D/3272-26A->G,Increased open channel probability -CFTR,G551S/3272-26A->G,Significantly enhanced channel open probability -CFTR,K1060T/3272-26A->G,Significantly enhanced channel open probability -CFTR,L206W/3272-26A->G,Significantly enhanced channel open probability -CFTR,P67L/3272-26A->G,Significantly enhanced channel open probability -CFTR,R1070Q/3272-26A->G,Significantly enhanced channel open probability -CFTR,R1070W/3272-26A->G,Significantly enhanced channel open probability -CFTR,R117C/3272-26A->G,Significantly enhanced channel open probability -CFTR,R117H/3272-26A->G,Significantly enhanced channel open probability -CFTR,R347H/3272-26A->G,Significantly enhanced channel open probability -CFTR,R352Q/3272-26A->G,Significantly enhanced channel open probability -CFTR,R74W/3272-26A->G,Significantly enhanced channel open probability -CFTR,S1251N/3272-26A->G,Significantly enhanced channel open probability -CFTR,S1255P/3272-26A->G,Significantly enhanced channel open probability -CFTR,S549N/3272-26A->G,Significantly enhanced channel open probability -CFTR,S549R(A>C)/3272-26A->G,Significantly enhanced channel open probability -CFTR,S549R(T>G)/3272-26A->G,Significantly enhanced channel open probability -CFTR,S945L/3272-26A->G,Significantly enhanced channel open probability -CFTR,S977F/3272-26A->G,Significantly enhanced channel open probability -CFTR,Reference/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,F508del/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,2789+5G->A/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,3272-26A->G/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,3849+10kbC->T/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,711+3A->G/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,A1067T/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,A455E/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,D110E/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,D110H/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,D1152H/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,D1270N/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,D579G/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,E193K/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,E56K/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,E831X/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,F1052V/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,F1074L/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,G1069R/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,G1244E/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,G1349D/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,G178R/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,G551D/3849+10kbC->T,Increased open channel probability -CFTR,G551S/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,K1060T/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,L206W/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,P67L/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R1070Q/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R1070W/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R117C/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R117H/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R347H/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R352Q/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R74W/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,S1251N/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,S1255P/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,S549N/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,S549R(A>C)/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,S549R(T>G)/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,S945L/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,S977F/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,Reference/711+3A->G,Significantly enhanced channel open probability -CFTR,F508del/711+3A->G,Significantly enhanced channel open probability -CFTR,711+3A->G/2789+5G->A,Significantly enhanced channel open probability -CFTR,711+3A->G/3272-26A->G,Significantly enhanced channel open probability -CFTR,711+3A->G/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,711+3A->G/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/711+3A->G,Significantly enhanced channel open probability -CFTR,A455E/711+3A->G,Significantly enhanced channel open probability -CFTR,D110E/711+3A->G,Significantly enhanced channel open probability -CFTR,D110H/711+3A->G,Significantly enhanced channel open probability -CFTR,D1152H/711+3A->G,Significantly enhanced channel open probability -CFTR,D1270N/711+3A->G,Significantly enhanced channel open probability -CFTR,D579G/711+3A->G,Significantly enhanced channel open probability -CFTR,E193K/711+3A->G,Significantly enhanced channel open probability -CFTR,E56K/711+3A->G,Significantly enhanced channel open probability -CFTR,E831X/711+3A->G,Significantly enhanced channel open probability -CFTR,F1052V/711+3A->G,Significantly enhanced channel open probability -CFTR,F1074L/711+3A->G,Significantly enhanced channel open probability -CFTR,G1069R/711+3A->G,Significantly enhanced channel open probability -CFTR,G1244E/711+3A->G,Significantly enhanced channel open probability -CFTR,G1349D/711+3A->G,Significantly enhanced channel open probability -CFTR,G178R/711+3A->G,Significantly enhanced channel open probability -CFTR,G551D/711+3A->G,Increased open channel probability -CFTR,G551S/711+3A->G,Significantly enhanced channel open probability -CFTR,K1060T/711+3A->G,Significantly enhanced channel open probability -CFTR,L206W/711+3A->G,Significantly enhanced channel open probability -CFTR,P67L/711+3A->G,Significantly enhanced channel open probability -CFTR,R1070Q/711+3A->G,Significantly enhanced channel open probability -CFTR,R1070W/711+3A->G,Significantly enhanced channel open probability -CFTR,R117C/711+3A->G,Significantly enhanced channel open probability -CFTR,R117H/711+3A->G,Significantly enhanced channel open probability -CFTR,R347H/711+3A->G,Significantly enhanced channel open probability -CFTR,R352Q/711+3A->G,Significantly enhanced channel open probability -CFTR,R74W/711+3A->G,Significantly enhanced channel open probability -CFTR,S1251N/711+3A->G,Significantly enhanced channel open probability -CFTR,S1255P/711+3A->G,Significantly enhanced channel open probability -CFTR,S549N/711+3A->G,Significantly enhanced channel open probability -CFTR,711+3A->G/S549R(A>C),Significantly enhanced channel open probability -CFTR,711+3A->G/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/711+3A->G,Significantly enhanced channel open probability -CFTR,S977F/711+3A->G,Significantly enhanced channel open probability -CFTR,Reference/A1067T,Significantly enhanced channel open probability -CFTR,A1067T/F508del,Significantly enhanced channel open probability -CFTR,A1067T/2789+5G->A,Significantly enhanced channel open probability -CFTR,A1067T/3272-26A->G,Significantly enhanced channel open probability -CFTR,A1067T/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,A1067T/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/A1067T,Significantly enhanced channel open probability -CFTR,A455E/A1067T,Significantly enhanced channel open probability -CFTR,D110E/A1067T,Significantly enhanced channel open probability -CFTR,D110H/A1067T,Significantly enhanced channel open probability -CFTR,A1067T/D1152H,Significantly enhanced channel open probability -CFTR,A1067T/D1270N,Significantly enhanced channel open probability -CFTR,D579G/A1067T,Significantly enhanced channel open probability -CFTR,E193K/A1067T,Significantly enhanced channel open probability -CFTR,E56K/A1067T,Significantly enhanced channel open probability -CFTR,E831X/A1067T,Significantly enhanced channel open probability -CFTR,A1067T/F1052V,Significantly enhanced channel open probability -CFTR,A1067T/F1074L,Significantly enhanced channel open probability -CFTR,A1067T/G1069R,Significantly enhanced channel open probability -CFTR,A1067T/G1244E,Significantly enhanced channel open probability -CFTR,A1067T/G1349D,Significantly enhanced channel open probability -CFTR,G178R/A1067T,Significantly enhanced channel open probability -CFTR,G551D/A1067T,Increased open channel probability -CFTR,G551S/A1067T,Significantly enhanced channel open probability -CFTR,A1067T/K1060T,Significantly enhanced channel open probability -CFTR,L206W/A1067T,Significantly enhanced channel open probability -CFTR,P67L/A1067T,Significantly enhanced channel open probability -CFTR,A1067T/R1070Q,Significantly enhanced channel open probability -CFTR,A1067T/R1070W,Significantly enhanced channel open probability -CFTR,R117C/A1067T,Significantly enhanced channel open probability -CFTR,R117H/A1067T,Significantly enhanced channel open probability -CFTR,R347H/A1067T,Significantly enhanced channel open probability -CFTR,R352Q/A1067T,Significantly enhanced channel open probability -CFTR,R74W/A1067T,Significantly enhanced channel open probability -CFTR,A1067T/S1251N,Significantly enhanced channel open probability -CFTR,A1067T/S1255P,Significantly enhanced channel open probability -CFTR,S549N/A1067T,Significantly enhanced channel open probability -CFTR,A1067T/S549R(A>C),Significantly enhanced channel open probability -CFTR,A1067T/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/A1067T,Significantly enhanced channel open probability -CFTR,S977F/A1067T,Significantly enhanced channel open probability -CFTR,Reference/A455E,Significantly enhanced channel open probability -CFTR,A455E/F508del,Significantly enhanced channel open probability -CFTR,A455E/2789+5G->A,Significantly enhanced channel open probability -CFTR,A455E/3272-26A->G,Significantly enhanced channel open probability -CFTR,A455E/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,A455E/711+3A->G,Significantly enhanced channel open probability -CFTR,A455E/A1067T,Significantly enhanced channel open probability -CFTR,A455E/A455E,Significantly enhanced channel open probability -CFTR,A455E/D110E,Significantly enhanced channel open probability -CFTR,A455E/D110H,Significantly enhanced channel open probability -CFTR,A455E/D1152H,Significantly enhanced channel open probability -CFTR,A455E/D1270N,Significantly enhanced channel open probability -CFTR,A455E/D579G,Significantly enhanced channel open probability -CFTR,A455E/E193K,Significantly enhanced channel open probability -CFTR,E56K/A455E,Significantly enhanced channel open probability -CFTR,A455E/E831X,Significantly enhanced channel open probability -CFTR,A455E/F1052V,Significantly enhanced channel open probability -CFTR,A455E/F1074L,Significantly enhanced channel open probability -CFTR,A455E/G1069R,Significantly enhanced channel open probability -CFTR,A455E/G1244E,Significantly enhanced channel open probability -CFTR,A455E/G1349D,Significantly enhanced channel open probability -CFTR,A455E/G178R,Significantly enhanced channel open probability -CFTR,A455E/G551D,Increased open channel probability -CFTR,A455E/G551S,Significantly enhanced channel open probability -CFTR,A455E/K1060T,Significantly enhanced channel open probability -CFTR,A455E/L206W,Significantly enhanced channel open probability -CFTR,P67L/A455E,Significantly enhanced channel open probability -CFTR,A455E/R1070Q,Significantly enhanced channel open probability -CFTR,A455E/R1070W,Significantly enhanced channel open probability -CFTR,A455E/R117C,Significantly enhanced channel open probability -CFTR,A455E/R117H,Significantly enhanced channel open probability -CFTR,A455E/R347H,Significantly enhanced channel open probability -CFTR,A455E/R352Q,Significantly enhanced channel open probability -CFTR,R74W/A455E,Significantly enhanced channel open probability -CFTR,A455E/S1251N,Significantly enhanced channel open probability -CFTR,A455E/S1255P,Significantly enhanced channel open probability -CFTR,A455E/S549N,Significantly enhanced channel open probability -CFTR,A455E/S549R(A>C),Significantly enhanced channel open probability -CFTR,A455E/S549R(T>G),Significantly enhanced channel open probability -CFTR,A455E/S945L,Significantly enhanced channel open probability -CFTR,A455E/S977F,Significantly enhanced channel open probability -CFTR,Reference/D110E,Significantly enhanced channel open probability -CFTR,D110E/F508del,Significantly enhanced channel open probability -CFTR,D110E/2789+5G->A,Significantly enhanced channel open probability -CFTR,D110E/3272-26A->G,Significantly enhanced channel open probability -CFTR,D110E/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,D110E/711+3A->G,Significantly enhanced channel open probability -CFTR,D110E/A1067T,Significantly enhanced channel open probability -CFTR,A455E/D110E,Significantly enhanced channel open probability -CFTR,D110E/D110E,Significantly enhanced channel open probability -CFTR,D110E/D110H,Significantly enhanced channel open probability -CFTR,D110E/D1152H,Significantly enhanced channel open probability -CFTR,D110E/D1270N,Significantly enhanced channel open probability -CFTR,D110E/D579G,Significantly enhanced channel open probability -CFTR,D110E/E193K,Significantly enhanced channel open probability -CFTR,E56K/D110E,Significantly enhanced channel open probability -CFTR,D110E/E831X,Significantly enhanced channel open probability -CFTR,D110E/F1052V,Significantly enhanced channel open probability -CFTR,D110E/F1074L,Significantly enhanced channel open probability -CFTR,D110E/G1069R,Significantly enhanced channel open probability -CFTR,D110E/G1244E,Significantly enhanced channel open probability -CFTR,D110E/G1349D,Significantly enhanced channel open probability -CFTR,D110E/G178R,Significantly enhanced channel open probability -CFTR,D110E/G551D,Increased open channel probability -CFTR,D110E/G551S,Significantly enhanced channel open probability -CFTR,D110E/K1060T,Significantly enhanced channel open probability -CFTR,D110E/L206W,Significantly enhanced channel open probability -CFTR,P67L/D110E,Significantly enhanced channel open probability -CFTR,D110E/R1070Q,Significantly enhanced channel open probability -CFTR,D110E/R1070W,Significantly enhanced channel open probability -CFTR,D110E/R117C,Significantly enhanced channel open probability -CFTR,D110E/R117H,Significantly enhanced channel open probability -CFTR,D110E/R347H,Significantly enhanced channel open probability -CFTR,D110E/R352Q,Significantly enhanced channel open probability -CFTR,R74W/D110E,Significantly enhanced channel open probability -CFTR,D110E/S1251N,Significantly enhanced channel open probability -CFTR,D110E/S1255P,Significantly enhanced channel open probability -CFTR,D110E/S549N,Significantly enhanced channel open probability -CFTR,D110E/S549R(A>C),Significantly enhanced channel open probability -CFTR,D110E/S549R(T>G),Significantly enhanced channel open probability -CFTR,D110E/S945L,Significantly enhanced channel open probability -CFTR,D110E/S977F,Significantly enhanced channel open probability -CFTR,Reference/D110H,Significantly enhanced channel open probability -CFTR,D110H/F508del,Significantly enhanced channel open probability -CFTR,D110H/2789+5G->A,Significantly enhanced channel open probability -CFTR,D110H/3272-26A->G,Significantly enhanced channel open probability -CFTR,D110H/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,D110H/711+3A->G,Significantly enhanced channel open probability -CFTR,D110H/A1067T,Significantly enhanced channel open probability -CFTR,A455E/D110H,Significantly enhanced channel open probability -CFTR,D110E/D110H,Significantly enhanced channel open probability -CFTR,D110H/D110H,Significantly enhanced channel open probability -CFTR,D110H/D1152H,Significantly enhanced channel open probability -CFTR,D110H/D1270N,Significantly enhanced channel open probability -CFTR,D110H/D579G,Significantly enhanced channel open probability -CFTR,D110H/E193K,Significantly enhanced channel open probability -CFTR,E56K/D110H,Significantly enhanced channel open probability -CFTR,D110H/E831X,Significantly enhanced channel open probability -CFTR,D110H/F1052V,Significantly enhanced channel open probability -CFTR,D110H/F1074L,Significantly enhanced channel open probability -CFTR,D110H/G1069R,Significantly enhanced channel open probability -CFTR,D110H/G1244E,Significantly enhanced channel open probability -CFTR,D110H/G1349D,Significantly enhanced channel open probability -CFTR,D110H/G178R,Significantly enhanced channel open probability -CFTR,D110H/G551D,Increased open channel probability -CFTR,D110H/G551S,Significantly enhanced channel open probability -CFTR,D110H/K1060T,Significantly enhanced channel open probability -CFTR,D110H/L206W,Significantly enhanced channel open probability -CFTR,P67L/D110H,Significantly enhanced channel open probability -CFTR,D110H/R1070Q,Significantly enhanced channel open probability -CFTR,D110H/R1070W,Significantly enhanced channel open probability -CFTR,D110H/R117C,Significantly enhanced channel open probability -CFTR,D110H/R117H,Significantly enhanced channel open probability -CFTR,D110H/R347H,Significantly enhanced channel open probability -CFTR,D110H/R352Q,Significantly enhanced channel open probability -CFTR,R74W/D110H,Significantly enhanced channel open probability -CFTR,D110H/S1251N,Significantly enhanced channel open probability -CFTR,D110H/S1255P,Significantly enhanced channel open probability -CFTR,D110H/S549N,Significantly enhanced channel open probability -CFTR,D110H/S549R(A>C),Significantly enhanced channel open probability -CFTR,D110H/S549R(T>G),Significantly enhanced channel open probability -CFTR,D110H/S945L,Significantly enhanced channel open probability -CFTR,D110H/S977F,Significantly enhanced channel open probability -CFTR,Reference/D1152H,Significantly enhanced channel open probability -CFTR,D1152H/F508del,Significantly enhanced channel open probability -CFTR,D1152H/2789+5G->A,Significantly enhanced channel open probability -CFTR,D1152H/3272-26A->G,Significantly enhanced channel open probability -CFTR,D1152H/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,D1152H/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/D1152H,Significantly enhanced channel open probability -CFTR,A455E/D1152H,Significantly enhanced channel open probability -CFTR,D110E/D1152H,Significantly enhanced channel open probability -CFTR,D110H/D1152H,Significantly enhanced channel open probability -CFTR,D1152H/D1152H,Significantly enhanced channel open probability -CFTR,D1152H/D1270N,Significantly enhanced channel open probability -CFTR,D579G/D1152H,Significantly enhanced channel open probability -CFTR,E193K/D1152H,Significantly enhanced channel open probability -CFTR,E56K/D1152H,Significantly enhanced channel open probability -CFTR,E831X/D1152H,Significantly enhanced channel open probability -CFTR,D1152H/F1052V,Significantly enhanced channel open probability -CFTR,D1152H/F1074L,Significantly enhanced channel open probability -CFTR,D1152H/G1069R,Significantly enhanced channel open probability -CFTR,D1152H/G1244E,Significantly enhanced channel open probability -CFTR,D1152H/G1349D,Significantly enhanced channel open probability -CFTR,G178R/D1152H,Significantly enhanced channel open probability -CFTR,G551D/D1152H,Increased open channel probability -CFTR,G551S/D1152H,Significantly enhanced channel open probability -CFTR,D1152H/K1060T,Significantly enhanced channel open probability -CFTR,L206W/D1152H,Significantly enhanced channel open probability -CFTR,P67L/D1152H,Significantly enhanced channel open probability -CFTR,D1152H/R1070Q,Significantly enhanced channel open probability -CFTR,D1152H/R1070W,Significantly enhanced channel open probability -CFTR,R117C/D1152H,Significantly enhanced channel open probability -CFTR,R117H/D1152H,Significantly enhanced channel open probability -CFTR,R347H/D1152H,Significantly enhanced channel open probability -CFTR,R352Q/D1152H,Significantly enhanced channel open probability -CFTR,R74W/D1152H,Significantly enhanced channel open probability -CFTR,D1152H/S1251N,Significantly enhanced channel open probability -CFTR,D1152H/S1255P,Significantly enhanced channel open probability -CFTR,S549N/D1152H,Significantly enhanced channel open probability -CFTR,D1152H/S549R(A>C),Significantly enhanced channel open probability -CFTR,D1152H/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/D1152H,Significantly enhanced channel open probability -CFTR,S977F/D1152H,Significantly enhanced channel open probability -CFTR,Reference/D1270N,Significantly enhanced channel open probability -CFTR,D1270N/F508del,Significantly enhanced channel open probability -CFTR,D1270N/2789+5G->A,Significantly enhanced channel open probability -CFTR,D1270N/3272-26A->G,Significantly enhanced channel open probability -CFTR,D1270N/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,D1270N/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/D1270N,Significantly enhanced channel open probability -CFTR,A455E/D1270N,Significantly enhanced channel open probability -CFTR,D110E/D1270N,Significantly enhanced channel open probability -CFTR,D110H/D1270N,Significantly enhanced channel open probability -CFTR,D1152H/D1270N,Significantly enhanced channel open probability -CFTR,D1270N/D1270N,Significantly enhanced channel open probability -CFTR,D579G/D1270N,Significantly enhanced channel open probability -CFTR,E193K/D1270N,Significantly enhanced channel open probability -CFTR,E56K/D1270N,Significantly enhanced channel open probability -CFTR,E831X/D1270N,Significantly enhanced channel open probability -CFTR,D1270N/F1052V,Significantly enhanced channel open probability -CFTR,D1270N/F1074L,Significantly enhanced channel open probability -CFTR,D1270N/G1069R,Significantly enhanced channel open probability -CFTR,D1270N/G1244E,Significantly enhanced channel open probability -CFTR,D1270N/G1349D,Significantly enhanced channel open probability -CFTR,G178R/D1270N,Significantly enhanced channel open probability -CFTR,G551D/D1270N,Increased open channel probability -CFTR,G551S/D1270N,Significantly enhanced channel open probability -CFTR,D1270N/K1060T,Significantly enhanced channel open probability -CFTR,L206W/D1270N,Significantly enhanced channel open probability -CFTR,P67L/D1270N,Significantly enhanced channel open probability -CFTR,D1270N/R1070Q,Significantly enhanced channel open probability -CFTR,D1270N/R1070W,Significantly enhanced channel open probability -CFTR,R117C/D1270N,Significantly enhanced channel open probability -CFTR,R117H/D1270N,Significantly enhanced channel open probability -CFTR,R347H/D1270N,Significantly enhanced channel open probability -CFTR,R352Q/D1270N,Significantly enhanced channel open probability -CFTR,R74W/D1270N,Significantly enhanced channel open probability -CFTR,D1270N/S1251N,Significantly enhanced channel open probability -CFTR,D1270N/S1255P,Significantly enhanced channel open probability -CFTR,S549N/D1270N,Significantly enhanced channel open probability -CFTR,D1270N/S549R(A>C),Significantly enhanced channel open probability -CFTR,D1270N/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/D1270N,Significantly enhanced channel open probability -CFTR,S977F/D1270N,Significantly enhanced channel open probability -CFTR,Reference/D579G,Significantly enhanced channel open probability -CFTR,D579G/F508del,Significantly enhanced channel open probability -CFTR,D579G/2789+5G->A,Significantly enhanced channel open probability -CFTR,D579G/3272-26A->G,Significantly enhanced channel open probability -CFTR,D579G/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,D579G/711+3A->G,Significantly enhanced channel open probability -CFTR,D579G/A1067T,Significantly enhanced channel open probability -CFTR,A455E/D579G,Significantly enhanced channel open probability -CFTR,D110E/D579G,Significantly enhanced channel open probability -CFTR,D110H/D579G,Significantly enhanced channel open probability -CFTR,D579G/D1152H,Significantly enhanced channel open probability -CFTR,D579G/D1270N,Significantly enhanced channel open probability -CFTR,D579G/D579G,Significantly enhanced channel open probability -CFTR,D579G/E193K,Significantly enhanced channel open probability -CFTR,E56K/D579G,Significantly enhanced channel open probability -CFTR,D579G/E831X,Significantly enhanced channel open probability -CFTR,D579G/F1052V,Significantly enhanced channel open probability -CFTR,D579G/F1074L,Significantly enhanced channel open probability -CFTR,D579G/G1069R,Significantly enhanced channel open probability -CFTR,D579G/G1244E,Significantly enhanced channel open probability -CFTR,D579G/G1349D,Significantly enhanced channel open probability -CFTR,D579G/G178R,Significantly enhanced channel open probability -CFTR,D579G/G551D,Increased open channel probability -CFTR,D579G/G551S,Significantly enhanced channel open probability -CFTR,D579G/K1060T,Significantly enhanced channel open probability -CFTR,D579G/L206W,Significantly enhanced channel open probability -CFTR,P67L/D579G,Significantly enhanced channel open probability -CFTR,D579G/R1070Q,Significantly enhanced channel open probability -CFTR,D579G/R1070W,Significantly enhanced channel open probability -CFTR,D579G/R117C,Significantly enhanced channel open probability -CFTR,D579G/R117H,Significantly enhanced channel open probability -CFTR,D579G/R347H,Significantly enhanced channel open probability -CFTR,D579G/R352Q,Significantly enhanced channel open probability -CFTR,R74W/D579G,Significantly enhanced channel open probability -CFTR,D579G/S1251N,Significantly enhanced channel open probability -CFTR,D579G/S1255P,Significantly enhanced channel open probability -CFTR,D579G/S549N,Significantly enhanced channel open probability -CFTR,D579G/S549R(A>C),Significantly enhanced channel open probability -CFTR,D579G/S549R(T>G),Significantly enhanced channel open probability -CFTR,D579G/S945L,Significantly enhanced channel open probability -CFTR,D579G/S977F,Significantly enhanced channel open probability -CFTR,Reference/E193K,Significantly enhanced channel open probability -CFTR,E193K/F508del,Significantly enhanced channel open probability -CFTR,E193K/2789+5G->A,Significantly enhanced channel open probability -CFTR,E193K/3272-26A->G,Significantly enhanced channel open probability -CFTR,E193K/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,E193K/711+3A->G,Significantly enhanced channel open probability -CFTR,E193K/A1067T,Significantly enhanced channel open probability -CFTR,A455E/E193K,Significantly enhanced channel open probability -CFTR,D110E/E193K,Significantly enhanced channel open probability -CFTR,D110H/E193K,Significantly enhanced channel open probability -CFTR,E193K/D1152H,Significantly enhanced channel open probability -CFTR,E193K/D1270N,Significantly enhanced channel open probability -CFTR,D579G/E193K,Significantly enhanced channel open probability -CFTR,E193K/E193K,Significantly enhanced channel open probability -CFTR,E56K/E193K,Significantly enhanced channel open probability -CFTR,E193K/E831X,Significantly enhanced channel open probability -CFTR,E193K/F1052V,Significantly enhanced channel open probability -CFTR,E193K/F1074L,Significantly enhanced channel open probability -CFTR,E193K/G1069R,Significantly enhanced channel open probability -CFTR,E193K/G1244E,Significantly enhanced channel open probability -CFTR,E193K/G1349D,Significantly enhanced channel open probability -CFTR,E193K/G178R,Significantly enhanced channel open probability -CFTR,E193K/G551D,Increased open channel probability -CFTR,E193K/G551S,Significantly enhanced channel open probability -CFTR,E193K/K1060T,Significantly enhanced channel open probability -CFTR,E193K/L206W,Significantly enhanced channel open probability -CFTR,P67L/E193K,Significantly enhanced channel open probability -CFTR,E193K/R1070Q,Significantly enhanced channel open probability -CFTR,E193K/R1070W,Significantly enhanced channel open probability -CFTR,E193K/R117C,Significantly enhanced channel open probability -CFTR,E193K/R117H,Significantly enhanced channel open probability -CFTR,E193K/R347H,Significantly enhanced channel open probability -CFTR,E193K/R352Q,Significantly enhanced channel open probability -CFTR,R74W/E193K,Significantly enhanced channel open probability -CFTR,E193K/S1251N,Significantly enhanced channel open probability -CFTR,E193K/S1255P,Significantly enhanced channel open probability -CFTR,E193K/S549N,Significantly enhanced channel open probability -CFTR,E193K/S549R(A>C),Significantly enhanced channel open probability -CFTR,E193K/S549R(T>G),Significantly enhanced channel open probability -CFTR,E193K/S945L,Significantly enhanced channel open probability -CFTR,E193K/S977F,Significantly enhanced channel open probability -CFTR,Reference/E56K,Significantly enhanced channel open probability -CFTR,E56K/F508del,Significantly enhanced channel open probability -CFTR,E56K/2789+5G->A,Significantly enhanced channel open probability -CFTR,E56K/3272-26A->G,Significantly enhanced channel open probability -CFTR,E56K/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,E56K/711+3A->G,Significantly enhanced channel open probability -CFTR,E56K/A1067T,Significantly enhanced channel open probability -CFTR,E56K/A455E,Significantly enhanced channel open probability -CFTR,E56K/D110E,Significantly enhanced channel open probability -CFTR,E56K/D110H,Significantly enhanced channel open probability -CFTR,E56K/D1152H,Significantly enhanced channel open probability -CFTR,E56K/D1270N,Significantly enhanced channel open probability -CFTR,E56K/D579G,Significantly enhanced channel open probability -CFTR,E56K/E193K,Significantly enhanced channel open probability -CFTR,E56K/E56K,Significantly enhanced channel open probability -CFTR,E56K/E831X,Significantly enhanced channel open probability -CFTR,E56K/F1052V,Significantly enhanced channel open probability -CFTR,E56K/F1074L,Significantly enhanced channel open probability -CFTR,E56K/G1069R,Significantly enhanced channel open probability -CFTR,E56K/G1244E,Significantly enhanced channel open probability -CFTR,E56K/G1349D,Significantly enhanced channel open probability -CFTR,E56K/G178R,Significantly enhanced channel open probability -CFTR,E56K/G551D,Increased open channel probability -CFTR,E56K/G551S,Significantly enhanced channel open probability -CFTR,E56K/K1060T,Significantly enhanced channel open probability -CFTR,E56K/L206W,Significantly enhanced channel open probability -CFTR,E56K/P67L,Significantly enhanced channel open probability -CFTR,E56K/R1070Q,Significantly enhanced channel open probability -CFTR,E56K/R1070W,Significantly enhanced channel open probability -CFTR,E56K/R117C,Significantly enhanced channel open probability -CFTR,E56K/R117H,Significantly enhanced channel open probability -CFTR,E56K/R347H,Significantly enhanced channel open probability -CFTR,E56K/R352Q,Significantly enhanced channel open probability -CFTR,E56K/R74W,Significantly enhanced channel open probability -CFTR,E56K/S1251N,Significantly enhanced channel open probability -CFTR,E56K/S1255P,Significantly enhanced channel open probability -CFTR,E56K/S549N,Significantly enhanced channel open probability -CFTR,E56K/S549R(A>C),Significantly enhanced channel open probability -CFTR,E56K/S549R(T>G),Significantly enhanced channel open probability -CFTR,E56K/S945L,Significantly enhanced channel open probability -CFTR,E56K/S977F,Significantly enhanced channel open probability -CFTR,Reference/E831X,Significantly enhanced channel open probability -CFTR,E831X/F508del,Significantly enhanced channel open probability -CFTR,E831X/2789+5G->A,Significantly enhanced channel open probability -CFTR,E831X/3272-26A->G,Significantly enhanced channel open probability -CFTR,E831X/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,E831X/711+3A->G,Significantly enhanced channel open probability -CFTR,E831X/A1067T,Significantly enhanced channel open probability -CFTR,A455E/E831X,Significantly enhanced channel open probability -CFTR,D110E/E831X,Significantly enhanced channel open probability -CFTR,D110H/E831X,Significantly enhanced channel open probability -CFTR,E831X/D1152H,Significantly enhanced channel open probability -CFTR,E831X/D1270N,Significantly enhanced channel open probability -CFTR,D579G/E831X,Significantly enhanced channel open probability -CFTR,E193K/E831X,Significantly enhanced channel open probability -CFTR,E56K/E831X,Significantly enhanced channel open probability -CFTR,E831X/E831X,Significantly enhanced channel open probability -CFTR,E831X/F1052V,Significantly enhanced channel open probability -CFTR,E831X/F1074L,Significantly enhanced channel open probability -CFTR,E831X/G1069R,Significantly enhanced channel open probability -CFTR,E831X/G1244E,Significantly enhanced channel open probability -CFTR,E831X/G1349D,Significantly enhanced channel open probability -CFTR,E831X/G178R,Significantly enhanced channel open probability -CFTR,E831X/G551D,Increased open channel probability -CFTR,E831X/G551S,Significantly enhanced channel open probability -CFTR,E831X/K1060T,Significantly enhanced channel open probability -CFTR,E831X/L206W,Significantly enhanced channel open probability -CFTR,P67L/E831X,Significantly enhanced channel open probability -CFTR,E831X/R1070Q,Significantly enhanced channel open probability -CFTR,E831X/R1070W,Significantly enhanced channel open probability -CFTR,E831X/R117C,Significantly enhanced channel open probability -CFTR,E831X/R117H,Significantly enhanced channel open probability -CFTR,E831X/R347H,Significantly enhanced channel open probability -CFTR,E831X/R352Q,Significantly enhanced channel open probability -CFTR,R74W/E831X,Significantly enhanced channel open probability -CFTR,E831X/S1251N,Significantly enhanced channel open probability -CFTR,E831X/S1255P,Significantly enhanced channel open probability -CFTR,E831X/S549N,Significantly enhanced channel open probability -CFTR,E831X/S549R(A>C),Significantly enhanced channel open probability -CFTR,E831X/S549R(T>G),Significantly enhanced channel open probability -CFTR,E831X/S945L,Significantly enhanced channel open probability -CFTR,E831X/S977F,Significantly enhanced channel open probability -CFTR,Reference/F1052V,Significantly enhanced channel open probability -CFTR,F1052V/F508del,Significantly enhanced channel open probability -CFTR,F1052V/2789+5G->A,Significantly enhanced channel open probability -CFTR,F1052V/3272-26A->G,Significantly enhanced channel open probability -CFTR,F1052V/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,F1052V/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/F1052V,Significantly enhanced channel open probability -CFTR,A455E/F1052V,Significantly enhanced channel open probability -CFTR,D110E/F1052V,Significantly enhanced channel open probability -CFTR,D110H/F1052V,Significantly enhanced channel open probability -CFTR,D1152H/F1052V,Significantly enhanced channel open probability -CFTR,D1270N/F1052V,Significantly enhanced channel open probability -CFTR,D579G/F1052V,Significantly enhanced channel open probability -CFTR,E193K/F1052V,Significantly enhanced channel open probability -CFTR,E56K/F1052V,Significantly enhanced channel open probability -CFTR,E831X/F1052V,Significantly enhanced channel open probability -CFTR,F1052V/F1052V,Significantly enhanced channel open probability -CFTR,F1052V/F1074L,Significantly enhanced channel open probability -CFTR,F1052V/G1069R,Significantly enhanced channel open probability -CFTR,F1052V/G1244E,Significantly enhanced channel open probability -CFTR,F1052V/G1349D,Significantly enhanced channel open probability -CFTR,G178R/F1052V,Significantly enhanced channel open probability -CFTR,G551D/F1052V,Increased open channel probability -CFTR,G551S/F1052V,Significantly enhanced channel open probability -CFTR,F1052V/K1060T,Significantly enhanced channel open probability -CFTR,L206W/F1052V,Significantly enhanced channel open probability -CFTR,P67L/F1052V,Significantly enhanced channel open probability -CFTR,F1052V/R1070Q,Significantly enhanced channel open probability -CFTR,F1052V/R1070W,Significantly enhanced channel open probability -CFTR,R117C/F1052V,Significantly enhanced channel open probability -CFTR,R117H/F1052V,Significantly enhanced channel open probability -CFTR,R347H/F1052V,Significantly enhanced channel open probability -CFTR,R352Q/F1052V,Significantly enhanced channel open probability -CFTR,R74W/F1052V,Significantly enhanced channel open probability -CFTR,F1052V/S1251N,Significantly enhanced channel open probability -CFTR,F1052V/S1255P,Significantly enhanced channel open probability -CFTR,S549N/F1052V,Significantly enhanced channel open probability -CFTR,F1052V/S549R(A>C),Significantly enhanced channel open probability -CFTR,F1052V/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/F1052V,Significantly enhanced channel open probability -CFTR,S977F/F1052V,Significantly enhanced channel open probability -CFTR,Reference/F1074L,Significantly enhanced channel open probability -CFTR,F1074L/F508del,Significantly enhanced channel open probability -CFTR,F1074L/2789+5G->A,Significantly enhanced channel open probability -CFTR,F1074L/3272-26A->G,Significantly enhanced channel open probability -CFTR,F1074L/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,F1074L/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/F1074L,Significantly enhanced channel open probability -CFTR,A455E/F1074L,Significantly enhanced channel open probability -CFTR,D110E/F1074L,Significantly enhanced channel open probability -CFTR,D110H/F1074L,Significantly enhanced channel open probability -CFTR,D1152H/F1074L,Significantly enhanced channel open probability -CFTR,D1270N/F1074L,Significantly enhanced channel open probability -CFTR,D579G/F1074L,Significantly enhanced channel open probability -CFTR,E193K/F1074L,Significantly enhanced channel open probability -CFTR,E56K/F1074L,Significantly enhanced channel open probability -CFTR,E831X/F1074L,Significantly enhanced channel open probability -CFTR,F1052V/F1074L,Significantly enhanced channel open probability -CFTR,F1074L/F1074L,Significantly enhanced channel open probability -CFTR,F1074L/G1069R,Significantly enhanced channel open probability -CFTR,F1074L/G1244E,Significantly enhanced channel open probability -CFTR,F1074L/G1349D,Significantly enhanced channel open probability -CFTR,G178R/F1074L,Significantly enhanced channel open probability -CFTR,G551D/F1074L,Increased open channel probability -CFTR,G551S/F1074L,Significantly enhanced channel open probability -CFTR,F1074L/K1060T,Significantly enhanced channel open probability -CFTR,L206W/F1074L,Significantly enhanced channel open probability -CFTR,P67L/F1074L,Significantly enhanced channel open probability -CFTR,F1074L/R1070Q,Significantly enhanced channel open probability -CFTR,F1074L/R1070W,Significantly enhanced channel open probability -CFTR,R117C/F1074L,Significantly enhanced channel open probability -CFTR,R117H/F1074L,Significantly enhanced channel open probability -CFTR,R347H/F1074L,Significantly enhanced channel open probability -CFTR,R352Q/F1074L,Significantly enhanced channel open probability -CFTR,R74W/F1074L,Significantly enhanced channel open probability -CFTR,F1074L/S1251N,Significantly enhanced channel open probability -CFTR,F1074L/S1255P,Significantly enhanced channel open probability -CFTR,S549N/F1074L,Significantly enhanced channel open probability -CFTR,F1074L/S549R(A>C),Significantly enhanced channel open probability -CFTR,F1074L/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/F1074L,Significantly enhanced channel open probability -CFTR,S977F/F1074L,Significantly enhanced channel open probability -CFTR,Reference/G1069R,Significantly enhanced channel open probability -CFTR,G1069R/F508del,Significantly enhanced channel open probability -CFTR,G1069R/2789+5G->A,Significantly enhanced channel open probability -CFTR,G1069R/3272-26A->G,Significantly enhanced channel open probability -CFTR,G1069R/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,G1069R/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/G1069R,Significantly enhanced channel open probability -CFTR,A455E/G1069R,Significantly enhanced channel open probability -CFTR,D110E/G1069R,Significantly enhanced channel open probability -CFTR,D110H/G1069R,Significantly enhanced channel open probability -CFTR,D1152H/G1069R,Significantly enhanced channel open probability -CFTR,D1270N/G1069R,Significantly enhanced channel open probability -CFTR,D579G/G1069R,Significantly enhanced channel open probability -CFTR,E193K/G1069R,Significantly enhanced channel open probability -CFTR,E56K/G1069R,Significantly enhanced channel open probability -CFTR,E831X/G1069R,Significantly enhanced channel open probability -CFTR,F1052V/G1069R,Significantly enhanced channel open probability -CFTR,F1074L/G1069R,Significantly enhanced channel open probability -CFTR,G1069R/G1069R,Significantly enhanced channel open probability -CFTR,G1069R/G1244E,Significantly enhanced channel open probability -CFTR,G1069R/G1349D,Significantly enhanced channel open probability -CFTR,G178R/G1069R,Significantly enhanced channel open probability -CFTR,G551D/G1069R,Increased open channel probability -CFTR,G551S/G1069R,Significantly enhanced channel open probability -CFTR,G1069R/K1060T,Significantly enhanced channel open probability -CFTR,L206W/G1069R,Significantly enhanced channel open probability -CFTR,P67L/G1069R,Significantly enhanced channel open probability -CFTR,G1069R/R1070Q,Significantly enhanced channel open probability -CFTR,G1069R/R1070W,Significantly enhanced channel open probability -CFTR,R117C/G1069R,Significantly enhanced channel open probability -CFTR,R117H/G1069R,Significantly enhanced channel open probability -CFTR,R347H/G1069R,Significantly enhanced channel open probability -CFTR,R352Q/G1069R,Significantly enhanced channel open probability -CFTR,R74W/G1069R,Significantly enhanced channel open probability -CFTR,G1069R/S1251N,Significantly enhanced channel open probability -CFTR,G1069R/S1255P,Significantly enhanced channel open probability -CFTR,S549N/G1069R,Significantly enhanced channel open probability -CFTR,G1069R/S549R(A>C),Significantly enhanced channel open probability -CFTR,G1069R/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/G1069R,Significantly enhanced channel open probability -CFTR,S977F/G1069R,Significantly enhanced channel open probability -CFTR,Reference/G1244E,Significantly enhanced channel open probability -CFTR,G1244E/F508del,Significantly enhanced channel open probability -CFTR,G1244E/2789+5G->A,Significantly enhanced channel open probability -CFTR,G1244E/3272-26A->G,Significantly enhanced channel open probability -CFTR,G1244E/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,G1244E/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/G1244E,Significantly enhanced channel open probability -CFTR,A455E/G1244E,Significantly enhanced channel open probability -CFTR,D110E/G1244E,Significantly enhanced channel open probability -CFTR,D110H/G1244E,Significantly enhanced channel open probability -CFTR,D1152H/G1244E,Significantly enhanced channel open probability -CFTR,D1270N/G1244E,Significantly enhanced channel open probability -CFTR,D579G/G1244E,Significantly enhanced channel open probability -CFTR,E193K/G1244E,Significantly enhanced channel open probability -CFTR,E56K/G1244E,Significantly enhanced channel open probability -CFTR,E831X/G1244E,Significantly enhanced channel open probability -CFTR,F1052V/G1244E,Significantly enhanced channel open probability -CFTR,F1074L/G1244E,Significantly enhanced channel open probability -CFTR,G1069R/G1244E,Significantly enhanced channel open probability -CFTR,G1244E/G1244E,Significantly enhanced channel open probability -CFTR,G1244E/G1349D,Significantly enhanced channel open probability -CFTR,G178R/G1244E,Significantly enhanced channel open probability -CFTR,G551D/G1244E,Increased open channel probability -CFTR,G551S/G1244E,Significantly enhanced channel open probability -CFTR,G1244E/K1060T,Significantly enhanced channel open probability -CFTR,L206W/G1244E,Significantly enhanced channel open probability -CFTR,P67L/G1244E,Significantly enhanced channel open probability -CFTR,G1244E/R1070Q,Significantly enhanced channel open probability -CFTR,G1244E/R1070W,Significantly enhanced channel open probability -CFTR,R117C/G1244E,Significantly enhanced channel open probability -CFTR,R117H/G1244E,Significantly enhanced channel open probability -CFTR,R347H/G1244E,Significantly enhanced channel open probability -CFTR,R352Q/G1244E,Significantly enhanced channel open probability -CFTR,R74W/G1244E,Significantly enhanced channel open probability -CFTR,G1244E/S1251N,Significantly enhanced channel open probability -CFTR,G1244E/S1255P,Significantly enhanced channel open probability -CFTR,S549N/G1244E,Significantly enhanced channel open probability -CFTR,G1244E/S549R(A>C),Significantly enhanced channel open probability -CFTR,G1244E/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/G1244E,Significantly enhanced channel open probability -CFTR,S977F/G1244E,Significantly enhanced channel open probability -CFTR,Reference/G1349D,Significantly enhanced channel open probability -CFTR,G1349D/F508del,Significantly enhanced channel open probability -CFTR,G1349D/2789+5G->A,Significantly enhanced channel open probability -CFTR,G1349D/3272-26A->G,Significantly enhanced channel open probability -CFTR,G1349D/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,G1349D/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/G1349D,Significantly enhanced channel open probability -CFTR,A455E/G1349D,Significantly enhanced channel open probability -CFTR,D110E/G1349D,Significantly enhanced channel open probability -CFTR,D110H/G1349D,Significantly enhanced channel open probability -CFTR,D1152H/G1349D,Significantly enhanced channel open probability -CFTR,D1270N/G1349D,Significantly enhanced channel open probability -CFTR,D579G/G1349D,Significantly enhanced channel open probability -CFTR,E193K/G1349D,Significantly enhanced channel open probability -CFTR,E56K/G1349D,Significantly enhanced channel open probability -CFTR,E831X/G1349D,Significantly enhanced channel open probability -CFTR,F1052V/G1349D,Significantly enhanced channel open probability -CFTR,F1074L/G1349D,Significantly enhanced channel open probability -CFTR,G1069R/G1349D,Significantly enhanced channel open probability -CFTR,G1244E/G1349D,Significantly enhanced channel open probability -CFTR,G1349D/G1349D,Significantly enhanced channel open probability -CFTR,G178R/G1349D,Significantly enhanced channel open probability -CFTR,G551D/G1349D,Increased open channel probability -CFTR,G551S/G1349D,Significantly enhanced channel open probability -CFTR,G1349D/K1060T,Significantly enhanced channel open probability -CFTR,L206W/G1349D,Significantly enhanced channel open probability -CFTR,P67L/G1349D,Significantly enhanced channel open probability -CFTR,G1349D/R1070Q,Significantly enhanced channel open probability -CFTR,G1349D/R1070W,Significantly enhanced channel open probability -CFTR,R117C/G1349D,Significantly enhanced channel open probability -CFTR,R117H/G1349D,Significantly enhanced channel open probability -CFTR,R347H/G1349D,Significantly enhanced channel open probability -CFTR,R352Q/G1349D,Significantly enhanced channel open probability -CFTR,R74W/G1349D,Significantly enhanced channel open probability -CFTR,G1349D/S1251N,Significantly enhanced channel open probability -CFTR,G1349D/S1255P,Significantly enhanced channel open probability -CFTR,S549N/G1349D,Significantly enhanced channel open probability -CFTR,G1349D/S549R(A>C),Significantly enhanced channel open probability -CFTR,G1349D/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/G1349D,Significantly enhanced channel open probability -CFTR,S977F/G1349D,Significantly enhanced channel open probability -CFTR,Reference/G178R,Significantly enhanced channel open probability -CFTR,G178R/F508del,Significantly enhanced channel open probability -CFTR,G178R/2789+5G->A,Significantly enhanced channel open probability -CFTR,G178R/3272-26A->G,Significantly enhanced channel open probability -CFTR,G178R/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,G178R/711+3A->G,Significantly enhanced channel open probability -CFTR,G178R/A1067T,Significantly enhanced channel open probability -CFTR,A455E/G178R,Significantly enhanced channel open probability -CFTR,D110E/G178R,Significantly enhanced channel open probability -CFTR,D110H/G178R,Significantly enhanced channel open probability -CFTR,G178R/D1152H,Significantly enhanced channel open probability -CFTR,G178R/D1270N,Significantly enhanced channel open probability -CFTR,D579G/G178R,Significantly enhanced channel open probability -CFTR,E193K/G178R,Significantly enhanced channel open probability -CFTR,E56K/G178R,Significantly enhanced channel open probability -CFTR,E831X/G178R,Significantly enhanced channel open probability -CFTR,G178R/F1052V,Significantly enhanced channel open probability -CFTR,G178R/F1074L,Significantly enhanced channel open probability -CFTR,G178R/G1069R,Significantly enhanced channel open probability -CFTR,G178R/G1244E,Significantly enhanced channel open probability -CFTR,G178R/G1349D,Significantly enhanced channel open probability -CFTR,G178R/G178R,Significantly enhanced channel open probability -CFTR,G178R/G551D,Increased open channel probability -CFTR,G178R/G551S,Significantly enhanced channel open probability -CFTR,G178R/K1060T,Significantly enhanced channel open probability -CFTR,G178R/L206W,Significantly enhanced channel open probability -CFTR,P67L/G178R,Significantly enhanced channel open probability -CFTR,G178R/R1070Q,Significantly enhanced channel open probability -CFTR,G178R/R1070W,Significantly enhanced channel open probability -CFTR,G178R/R117C,Significantly enhanced channel open probability -CFTR,G178R/R117H,Significantly enhanced channel open probability -CFTR,G178R/R347H,Significantly enhanced channel open probability -CFTR,G178R/R352Q,Significantly enhanced channel open probability -CFTR,R74W/G178R,Significantly enhanced channel open probability -CFTR,G178R/S1251N,Significantly enhanced channel open probability -CFTR,G178R/S1255P,Significantly enhanced channel open probability -CFTR,G178R/S549N,Significantly enhanced channel open probability -CFTR,G178R/S549R(A>C),Significantly enhanced channel open probability -CFTR,G178R/S549R(T>G),Significantly enhanced channel open probability -CFTR,G178R/S945L,Significantly enhanced channel open probability -CFTR,G178R/S977F,Significantly enhanced channel open probability -CFTR,Reference/G551D,Increased open channel probability -CFTR,G551D/F508del,Increased open channel probability -CFTR,G551D/2789+5G->A,Increased open channel probability -CFTR,G551D/3272-26A->G,Increased open channel probability -CFTR,G551D/3849+10kbC->T,Increased open channel probability -CFTR,G551D/711+3A->G,Increased open channel probability -CFTR,G551D/A1067T,Increased open channel probability -CFTR,A455E/G551D,Increased open channel probability -CFTR,D110E/G551D,Increased open channel probability -CFTR,D110H/G551D,Increased open channel probability -CFTR,G551D/D1152H,Increased open channel probability -CFTR,G551D/D1270N,Increased open channel probability -CFTR,D579G/G551D,Increased open channel probability -CFTR,E193K/G551D,Increased open channel probability -CFTR,E56K/G551D,Increased open channel probability -CFTR,E831X/G551D,Increased open channel probability -CFTR,G551D/F1052V,Increased open channel probability -CFTR,G551D/F1074L,Increased open channel probability -CFTR,G551D/G1069R,Increased open channel probability -CFTR,G551D/G1244E,Increased open channel probability -CFTR,G551D/G1349D,Increased open channel probability -CFTR,G178R/G551D,Increased open channel probability -CFTR,G551D/G551D,Increased open channel probability -CFTR,G551D/G551S,Increased open channel probability -CFTR,G551D/K1060T,Increased open channel probability -CFTR,G551D/L206W,Increased open channel probability -CFTR,P67L/G551D,Increased open channel probability -CFTR,G551D/R1070Q,Increased open channel probability -CFTR,G551D/R1070W,Increased open channel probability -CFTR,G551D/R117C,Increased open channel probability -CFTR,G551D/R117H,Increased open channel probability -CFTR,G551D/R347H,Increased open channel probability -CFTR,G551D/R352Q,Increased open channel probability -CFTR,R74W/G551D,Increased open channel probability -CFTR,G551D/S1251N,Increased open channel probability -CFTR,G551D/S1255P,Increased open channel probability -CFTR,G551D/S549N,Increased open channel probability -CFTR,G551D/S549R(A>C),Increased open channel probability -CFTR,G551D/S549R(T>G),Increased open channel probability -CFTR,G551D/S945L,Increased open channel probability -CFTR,G551D/S977F,Increased open channel probability -CFTR,Reference/G551S,Significantly enhanced channel open probability -CFTR,G551S/F508del,Significantly enhanced channel open probability -CFTR,G551S/2789+5G->A,Significantly enhanced channel open probability -CFTR,G551S/3272-26A->G,Significantly enhanced channel open probability -CFTR,G551S/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,G551S/711+3A->G,Significantly enhanced channel open probability -CFTR,G551S/A1067T,Significantly enhanced channel open probability -CFTR,A455E/G551S,Significantly enhanced channel open probability -CFTR,D110E/G551S,Significantly enhanced channel open probability -CFTR,D110H/G551S,Significantly enhanced channel open probability -CFTR,G551S/D1152H,Significantly enhanced channel open probability -CFTR,G551S/D1270N,Significantly enhanced channel open probability -CFTR,D579G/G551S,Significantly enhanced channel open probability -CFTR,E193K/G551S,Significantly enhanced channel open probability -CFTR,E56K/G551S,Significantly enhanced channel open probability -CFTR,E831X/G551S,Significantly enhanced channel open probability -CFTR,G551S/F1052V,Significantly enhanced channel open probability -CFTR,G551S/F1074L,Significantly enhanced channel open probability -CFTR,G551S/G1069R,Significantly enhanced channel open probability -CFTR,G551S/G1244E,Significantly enhanced channel open probability -CFTR,G551S/G1349D,Significantly enhanced channel open probability -CFTR,G178R/G551S,Significantly enhanced channel open probability -CFTR,G551D/G551S,Increased open channel probability -CFTR,G551S/G551S,Significantly enhanced channel open probability -CFTR,G551S/K1060T,Significantly enhanced channel open probability -CFTR,G551S/L206W,Significantly enhanced channel open probability -CFTR,P67L/G551S,Significantly enhanced channel open probability -CFTR,G551S/R1070Q,Significantly enhanced channel open probability -CFTR,G551S/R1070W,Significantly enhanced channel open probability -CFTR,G551S/R117C,Significantly enhanced channel open probability -CFTR,G551S/R117H,Significantly enhanced channel open probability -CFTR,G551S/R347H,Significantly enhanced channel open probability -CFTR,G551S/R352Q,Significantly enhanced channel open probability -CFTR,R74W/G551S,Significantly enhanced channel open probability -CFTR,G551S/S1251N,Significantly enhanced channel open probability -CFTR,G551S/S1255P,Significantly enhanced channel open probability -CFTR,G551S/S549N,Significantly enhanced channel open probability -CFTR,G551S/S549R(A>C),Significantly enhanced channel open probability -CFTR,G551S/S549R(T>G),Significantly enhanced channel open probability -CFTR,G551S/S945L,Significantly enhanced channel open probability -CFTR,G551S/S977F,Significantly enhanced channel open probability -CFTR,Reference/K1060T,Significantly enhanced channel open probability -CFTR,K1060T/F508del,Significantly enhanced channel open probability -CFTR,K1060T/2789+5G->A,Significantly enhanced channel open probability -CFTR,K1060T/3272-26A->G,Significantly enhanced channel open probability -CFTR,K1060T/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,K1060T/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/K1060T,Significantly enhanced channel open probability -CFTR,A455E/K1060T,Significantly enhanced channel open probability -CFTR,D110E/K1060T,Significantly enhanced channel open probability -CFTR,D110H/K1060T,Significantly enhanced channel open probability -CFTR,D1152H/K1060T,Significantly enhanced channel open probability -CFTR,D1270N/K1060T,Significantly enhanced channel open probability -CFTR,D579G/K1060T,Significantly enhanced channel open probability -CFTR,E193K/K1060T,Significantly enhanced channel open probability -CFTR,E56K/K1060T,Significantly enhanced channel open probability -CFTR,E831X/K1060T,Significantly enhanced channel open probability -CFTR,F1052V/K1060T,Significantly enhanced channel open probability -CFTR,F1074L/K1060T,Significantly enhanced channel open probability -CFTR,G1069R/K1060T,Significantly enhanced channel open probability -CFTR,G1244E/K1060T,Significantly enhanced channel open probability -CFTR,G1349D/K1060T,Significantly enhanced channel open probability -CFTR,G178R/K1060T,Significantly enhanced channel open probability -CFTR,G551D/K1060T,Increased open channel probability -CFTR,G551S/K1060T,Significantly enhanced channel open probability -CFTR,K1060T/K1060T,Significantly enhanced channel open probability -CFTR,L206W/K1060T,Significantly enhanced channel open probability -CFTR,P67L/K1060T,Significantly enhanced channel open probability -CFTR,K1060T/R1070Q,Significantly enhanced channel open probability -CFTR,K1060T/R1070W,Significantly enhanced channel open probability -CFTR,R117C/K1060T,Significantly enhanced channel open probability -CFTR,R117H/K1060T,Significantly enhanced channel open probability -CFTR,R347H/K1060T,Significantly enhanced channel open probability -CFTR,R352Q/K1060T,Significantly enhanced channel open probability -CFTR,R74W/K1060T,Significantly enhanced channel open probability -CFTR,K1060T/S1251N,Significantly enhanced channel open probability -CFTR,K1060T/S1255P,Significantly enhanced channel open probability -CFTR,S549N/K1060T,Significantly enhanced channel open probability -CFTR,K1060T/S549R(A>C),Significantly enhanced channel open probability -CFTR,K1060T/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/K1060T,Significantly enhanced channel open probability -CFTR,S977F/K1060T,Significantly enhanced channel open probability -CFTR,Reference/L206W,Significantly enhanced channel open probability -CFTR,L206W/F508del,Significantly enhanced channel open probability -CFTR,L206W/2789+5G->A,Significantly enhanced channel open probability -CFTR,L206W/3272-26A->G,Significantly enhanced channel open probability -CFTR,L206W/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,L206W/711+3A->G,Significantly enhanced channel open probability -CFTR,L206W/A1067T,Significantly enhanced channel open probability -CFTR,A455E/L206W,Significantly enhanced channel open probability -CFTR,D110E/L206W,Significantly enhanced channel open probability -CFTR,D110H/L206W,Significantly enhanced channel open probability -CFTR,L206W/D1152H,Significantly enhanced channel open probability -CFTR,L206W/D1270N,Significantly enhanced channel open probability -CFTR,D579G/L206W,Significantly enhanced channel open probability -CFTR,E193K/L206W,Significantly enhanced channel open probability -CFTR,E56K/L206W,Significantly enhanced channel open probability -CFTR,E831X/L206W,Significantly enhanced channel open probability -CFTR,L206W/F1052V,Significantly enhanced channel open probability -CFTR,L206W/F1074L,Significantly enhanced channel open probability -CFTR,L206W/G1069R,Significantly enhanced channel open probability -CFTR,L206W/G1244E,Significantly enhanced channel open probability -CFTR,L206W/G1349D,Significantly enhanced channel open probability -CFTR,G178R/L206W,Significantly enhanced channel open probability -CFTR,G551D/L206W,Increased open channel probability -CFTR,G551S/L206W,Significantly enhanced channel open probability -CFTR,L206W/K1060T,Significantly enhanced channel open probability -CFTR,L206W/L206W,Significantly enhanced channel open probability -CFTR,P67L/L206W,Significantly enhanced channel open probability -CFTR,L206W/R1070Q,Significantly enhanced channel open probability -CFTR,L206W/R1070W,Significantly enhanced channel open probability -CFTR,L206W/R117C,Significantly enhanced channel open probability -CFTR,L206W/R117H,Significantly enhanced channel open probability -CFTR,L206W/R347H,Significantly enhanced channel open probability -CFTR,L206W/R352Q,Significantly enhanced channel open probability -CFTR,R74W/L206W,Significantly enhanced channel open probability -CFTR,L206W/S1251N,Significantly enhanced channel open probability -CFTR,L206W/S1255P,Significantly enhanced channel open probability -CFTR,L206W/S549N,Significantly enhanced channel open probability -CFTR,L206W/S549R(A>C),Significantly enhanced channel open probability -CFTR,L206W/S549R(T>G),Significantly enhanced channel open probability -CFTR,L206W/S945L,Significantly enhanced channel open probability -CFTR,L206W/S977F,Significantly enhanced channel open probability -CFTR,Reference/P67L,Significantly enhanced channel open probability -CFTR,P67L/F508del,Significantly enhanced channel open probability -CFTR,P67L/2789+5G->A,Significantly enhanced channel open probability -CFTR,P67L/3272-26A->G,Significantly enhanced channel open probability -CFTR,P67L/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,P67L/711+3A->G,Significantly enhanced channel open probability -CFTR,P67L/A1067T,Significantly enhanced channel open probability -CFTR,P67L/A455E,Significantly enhanced channel open probability -CFTR,P67L/D110E,Significantly enhanced channel open probability -CFTR,P67L/D110H,Significantly enhanced channel open probability -CFTR,P67L/D1152H,Significantly enhanced channel open probability -CFTR,P67L/D1270N,Significantly enhanced channel open probability -CFTR,P67L/D579G,Significantly enhanced channel open probability -CFTR,P67L/E193K,Significantly enhanced channel open probability -CFTR,E56K/P67L,Significantly enhanced channel open probability -CFTR,P67L/E831X,Significantly enhanced channel open probability -CFTR,P67L/F1052V,Significantly enhanced channel open probability -CFTR,P67L/F1074L,Significantly enhanced channel open probability -CFTR,P67L/G1069R,Significantly enhanced channel open probability -CFTR,P67L/G1244E,Significantly enhanced channel open probability -CFTR,P67L/G1349D,Significantly enhanced channel open probability -CFTR,P67L/G178R,Significantly enhanced channel open probability -CFTR,P67L/G551D,Increased open channel probability -CFTR,P67L/G551S,Significantly enhanced channel open probability -CFTR,P67L/K1060T,Significantly enhanced channel open probability -CFTR,P67L/L206W,Significantly enhanced channel open probability -CFTR,P67L/P67L,Significantly enhanced channel open probability -CFTR,P67L/R1070Q,Significantly enhanced channel open probability -CFTR,P67L/R1070W,Significantly enhanced channel open probability -CFTR,P67L/R117C,Significantly enhanced channel open probability -CFTR,P67L/R117H,Significantly enhanced channel open probability -CFTR,P67L/R347H,Significantly enhanced channel open probability -CFTR,P67L/R352Q,Significantly enhanced channel open probability -CFTR,P67L/R74W,Significantly enhanced channel open probability -CFTR,P67L/S1251N,Significantly enhanced channel open probability -CFTR,P67L/S1255P,Significantly enhanced channel open probability -CFTR,P67L/S549N,Significantly enhanced channel open probability -CFTR,P67L/S549R(A>C),Significantly enhanced channel open probability -CFTR,P67L/S549R(T>G),Significantly enhanced channel open probability -CFTR,P67L/S945L,Significantly enhanced channel open probability -CFTR,P67L/S977F,Significantly enhanced channel open probability -CFTR,Reference/R1070Q,Significantly enhanced channel open probability -CFTR,R1070Q/F508del,Significantly enhanced channel open probability -CFTR,R1070Q/2789+5G->A,Significantly enhanced channel open probability -CFTR,R1070Q/3272-26A->G,Significantly enhanced channel open probability -CFTR,R1070Q/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R1070Q/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/R1070Q,Significantly enhanced channel open probability -CFTR,A455E/R1070Q,Significantly enhanced channel open probability -CFTR,D110E/R1070Q,Significantly enhanced channel open probability -CFTR,D110H/R1070Q,Significantly enhanced channel open probability -CFTR,D1152H/R1070Q,Significantly enhanced channel open probability -CFTR,D1270N/R1070Q,Significantly enhanced channel open probability -CFTR,D579G/R1070Q,Significantly enhanced channel open probability -CFTR,E193K/R1070Q,Significantly enhanced channel open probability -CFTR,E56K/R1070Q,Significantly enhanced channel open probability -CFTR,E831X/R1070Q,Significantly enhanced channel open probability -CFTR,F1052V/R1070Q,Significantly enhanced channel open probability -CFTR,F1074L/R1070Q,Significantly enhanced channel open probability -CFTR,G1069R/R1070Q,Significantly enhanced channel open probability -CFTR,G1244E/R1070Q,Significantly enhanced channel open probability -CFTR,G1349D/R1070Q,Significantly enhanced channel open probability -CFTR,G178R/R1070Q,Significantly enhanced channel open probability -CFTR,G551D/R1070Q,Increased open channel probability -CFTR,G551S/R1070Q,Significantly enhanced channel open probability -CFTR,K1060T/R1070Q,Significantly enhanced channel open probability -CFTR,L206W/R1070Q,Significantly enhanced channel open probability -CFTR,P67L/R1070Q,Significantly enhanced channel open probability -CFTR,R1070Q/R1070Q,Significantly enhanced channel open probability -CFTR,R1070Q/R1070W,Significantly enhanced channel open probability -CFTR,R117C/R1070Q,Significantly enhanced channel open probability -CFTR,R117H/R1070Q,Significantly enhanced channel open probability -CFTR,R347H/R1070Q,Significantly enhanced channel open probability -CFTR,R352Q/R1070Q,Significantly enhanced channel open probability -CFTR,R74W/R1070Q,Significantly enhanced channel open probability -CFTR,R1070Q/S1251N,Significantly enhanced channel open probability -CFTR,R1070Q/S1255P,Significantly enhanced channel open probability -CFTR,S549N/R1070Q,Significantly enhanced channel open probability -CFTR,R1070Q/S549R(A>C),Significantly enhanced channel open probability -CFTR,R1070Q/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/R1070Q,Significantly enhanced channel open probability -CFTR,S977F/R1070Q,Significantly enhanced channel open probability -CFTR,Reference/R1070W,Significantly enhanced channel open probability -CFTR,R1070W/F508del,Significantly enhanced channel open probability -CFTR,R1070W/2789+5G->A,Significantly enhanced channel open probability -CFTR,R1070W/3272-26A->G,Significantly enhanced channel open probability -CFTR,R1070W/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R1070W/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/R1070W,Significantly enhanced channel open probability -CFTR,A455E/R1070W,Significantly enhanced channel open probability -CFTR,D110E/R1070W,Significantly enhanced channel open probability -CFTR,D110H/R1070W,Significantly enhanced channel open probability -CFTR,D1152H/R1070W,Significantly enhanced channel open probability -CFTR,D1270N/R1070W,Significantly enhanced channel open probability -CFTR,D579G/R1070W,Significantly enhanced channel open probability -CFTR,E193K/R1070W,Significantly enhanced channel open probability -CFTR,E56K/R1070W,Significantly enhanced channel open probability -CFTR,E831X/R1070W,Significantly enhanced channel open probability -CFTR,F1052V/R1070W,Significantly enhanced channel open probability -CFTR,F1074L/R1070W,Significantly enhanced channel open probability -CFTR,G1069R/R1070W,Significantly enhanced channel open probability -CFTR,G1244E/R1070W,Significantly enhanced channel open probability -CFTR,G1349D/R1070W,Significantly enhanced channel open probability -CFTR,G178R/R1070W,Significantly enhanced channel open probability -CFTR,G551D/R1070W,Increased open channel probability -CFTR,G551S/R1070W,Significantly enhanced channel open probability -CFTR,K1060T/R1070W,Significantly enhanced channel open probability -CFTR,L206W/R1070W,Significantly enhanced channel open probability -CFTR,P67L/R1070W,Significantly enhanced channel open probability -CFTR,R1070Q/R1070W,Significantly enhanced channel open probability -CFTR,R1070W/R1070W,Significantly enhanced channel open probability -CFTR,R117C/R1070W,Significantly enhanced channel open probability -CFTR,R117H/R1070W,Significantly enhanced channel open probability -CFTR,R347H/R1070W,Significantly enhanced channel open probability -CFTR,R352Q/R1070W,Significantly enhanced channel open probability -CFTR,R74W/R1070W,Significantly enhanced channel open probability -CFTR,R1070W/S1251N,Significantly enhanced channel open probability -CFTR,R1070W/S1255P,Significantly enhanced channel open probability -CFTR,S549N/R1070W,Significantly enhanced channel open probability -CFTR,R1070W/S549R(A>C),Significantly enhanced channel open probability -CFTR,R1070W/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/R1070W,Significantly enhanced channel open probability -CFTR,S977F/R1070W,Significantly enhanced channel open probability -CFTR,Reference/R117C,Significantly enhanced channel open probability -CFTR,R117C/F508del,Significantly enhanced channel open probability -CFTR,R117C/2789+5G->A,Significantly enhanced channel open probability -CFTR,R117C/3272-26A->G,Significantly enhanced channel open probability -CFTR,R117C/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R117C/711+3A->G,Significantly enhanced channel open probability -CFTR,R117C/A1067T,Significantly enhanced channel open probability -CFTR,A455E/R117C,Significantly enhanced channel open probability -CFTR,D110E/R117C,Significantly enhanced channel open probability -CFTR,D110H/R117C,Significantly enhanced channel open probability -CFTR,R117C/D1152H,Significantly enhanced channel open probability -CFTR,R117C/D1270N,Significantly enhanced channel open probability -CFTR,D579G/R117C,Significantly enhanced channel open probability -CFTR,E193K/R117C,Significantly enhanced channel open probability -CFTR,E56K/R117C,Significantly enhanced channel open probability -CFTR,E831X/R117C,Significantly enhanced channel open probability -CFTR,R117C/F1052V,Significantly enhanced channel open probability -CFTR,R117C/F1074L,Significantly enhanced channel open probability -CFTR,R117C/G1069R,Significantly enhanced channel open probability -CFTR,R117C/G1244E,Significantly enhanced channel open probability -CFTR,R117C/G1349D,Significantly enhanced channel open probability -CFTR,G178R/R117C,Significantly enhanced channel open probability -CFTR,G551D/R117C,Increased open channel probability -CFTR,G551S/R117C,Significantly enhanced channel open probability -CFTR,R117C/K1060T,Significantly enhanced channel open probability -CFTR,L206W/R117C,Significantly enhanced channel open probability -CFTR,P67L/R117C,Significantly enhanced channel open probability -CFTR,R117C/R1070Q,Significantly enhanced channel open probability -CFTR,R117C/R1070W,Significantly enhanced channel open probability -CFTR,R117C/R117C,Significantly enhanced channel open probability -CFTR,R117C/R117H,Significantly enhanced channel open probability -CFTR,R117C/R347H,Significantly enhanced channel open probability -CFTR,R117C/R352Q,Significantly enhanced channel open probability -CFTR,R74W/R117C,Significantly enhanced channel open probability -CFTR,R117C/S1251N,Significantly enhanced channel open probability -CFTR,R117C/S1255P,Significantly enhanced channel open probability -CFTR,R117C/S549N,Significantly enhanced channel open probability -CFTR,R117C/S549R(A>C),Significantly enhanced channel open probability -CFTR,R117C/S549R(T>G),Significantly enhanced channel open probability -CFTR,R117C/S945L,Significantly enhanced channel open probability -CFTR,R117C/S977F,Significantly enhanced channel open probability -CFTR,Reference/R117H,Significantly enhanced channel open probability -CFTR,R117H/F508del,Significantly enhanced channel open probability -CFTR,R117H/2789+5G->A,Significantly enhanced channel open probability -CFTR,R117H/3272-26A->G,Significantly enhanced channel open probability -CFTR,R117H/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R117H/711+3A->G,Significantly enhanced channel open probability -CFTR,R117H/A1067T,Significantly enhanced channel open probability -CFTR,A455E/R117H,Significantly enhanced channel open probability -CFTR,D110E/R117H,Significantly enhanced channel open probability -CFTR,D110H/R117H,Significantly enhanced channel open probability -CFTR,R117H/D1152H,Significantly enhanced channel open probability -CFTR,R117H/D1270N,Significantly enhanced channel open probability -CFTR,D579G/R117H,Significantly enhanced channel open probability -CFTR,E193K/R117H,Significantly enhanced channel open probability -CFTR,E56K/R117H,Significantly enhanced channel open probability -CFTR,E831X/R117H,Significantly enhanced channel open probability -CFTR,R117H/F1052V,Significantly enhanced channel open probability -CFTR,R117H/F1074L,Significantly enhanced channel open probability -CFTR,R117H/G1069R,Significantly enhanced channel open probability -CFTR,R117H/G1244E,Significantly enhanced channel open probability -CFTR,R117H/G1349D,Significantly enhanced channel open probability -CFTR,G178R/R117H,Significantly enhanced channel open probability -CFTR,G551D/R117H,Increased open channel probability -CFTR,G551S/R117H,Significantly enhanced channel open probability -CFTR,R117H/K1060T,Significantly enhanced channel open probability -CFTR,L206W/R117H,Significantly enhanced channel open probability -CFTR,P67L/R117H,Significantly enhanced channel open probability -CFTR,R117H/R1070Q,Significantly enhanced channel open probability -CFTR,R117H/R1070W,Significantly enhanced channel open probability -CFTR,R117C/R117H,Significantly enhanced channel open probability -CFTR,R117H/R117H,Significantly enhanced channel open probability -CFTR,R117H/R347H,Significantly enhanced channel open probability -CFTR,R117H/R352Q,Significantly enhanced channel open probability -CFTR,R74W/R117H,Significantly enhanced channel open probability -CFTR,R117H/S1251N,Significantly enhanced channel open probability -CFTR,R117H/S1255P,Significantly enhanced channel open probability -CFTR,R117H/S549N,Significantly enhanced channel open probability -CFTR,R117H/S549R(A>C),Significantly enhanced channel open probability -CFTR,R117H/S549R(T>G),Significantly enhanced channel open probability -CFTR,R117H/S945L,Significantly enhanced channel open probability -CFTR,R117H/S977F,Significantly enhanced channel open probability -CFTR,Reference/R347H,Significantly enhanced channel open probability -CFTR,R347H/F508del,Significantly enhanced channel open probability -CFTR,R347H/2789+5G->A,Significantly enhanced channel open probability -CFTR,R347H/3272-26A->G,Significantly enhanced channel open probability -CFTR,R347H/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R347H/711+3A->G,Significantly enhanced channel open probability -CFTR,R347H/A1067T,Significantly enhanced channel open probability -CFTR,A455E/R347H,Significantly enhanced channel open probability -CFTR,D110E/R347H,Significantly enhanced channel open probability -CFTR,D110H/R347H,Significantly enhanced channel open probability -CFTR,R347H/D1152H,Significantly enhanced channel open probability -CFTR,R347H/D1270N,Significantly enhanced channel open probability -CFTR,D579G/R347H,Significantly enhanced channel open probability -CFTR,E193K/R347H,Significantly enhanced channel open probability -CFTR,E56K/R347H,Significantly enhanced channel open probability -CFTR,E831X/R347H,Significantly enhanced channel open probability -CFTR,R347H/F1052V,Significantly enhanced channel open probability -CFTR,R347H/F1074L,Significantly enhanced channel open probability -CFTR,R347H/G1069R,Significantly enhanced channel open probability -CFTR,R347H/G1244E,Significantly enhanced channel open probability -CFTR,R347H/G1349D,Significantly enhanced channel open probability -CFTR,G178R/R347H,Significantly enhanced channel open probability -CFTR,G551D/R347H,Increased open channel probability -CFTR,G551S/R347H,Significantly enhanced channel open probability -CFTR,R347H/K1060T,Significantly enhanced channel open probability -CFTR,L206W/R347H,Significantly enhanced channel open probability -CFTR,P67L/R347H,Significantly enhanced channel open probability -CFTR,R347H/R1070Q,Significantly enhanced channel open probability -CFTR,R347H/R1070W,Significantly enhanced channel open probability -CFTR,R117C/R347H,Significantly enhanced channel open probability -CFTR,R117H/R347H,Significantly enhanced channel open probability -CFTR,R347H/R347H,Significantly enhanced channel open probability -CFTR,R347H/R352Q,Significantly enhanced channel open probability -CFTR,R74W/R347H,Significantly enhanced channel open probability -CFTR,R347H/S1251N,Significantly enhanced channel open probability -CFTR,R347H/S1255P,Significantly enhanced channel open probability -CFTR,R347H/S549N,Significantly enhanced channel open probability -CFTR,R347H/S549R(A>C),Significantly enhanced channel open probability -CFTR,R347H/S549R(T>G),Significantly enhanced channel open probability -CFTR,R347H/S945L,Significantly enhanced channel open probability -CFTR,R347H/S977F,Significantly enhanced channel open probability -CFTR,Reference/R352Q,Significantly enhanced channel open probability -CFTR,R352Q/F508del,Significantly enhanced channel open probability -CFTR,R352Q/2789+5G->A,Significantly enhanced channel open probability -CFTR,R352Q/3272-26A->G,Significantly enhanced channel open probability -CFTR,R352Q/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R352Q/711+3A->G,Significantly enhanced channel open probability -CFTR,R352Q/A1067T,Significantly enhanced channel open probability -CFTR,A455E/R352Q,Significantly enhanced channel open probability -CFTR,D110E/R352Q,Significantly enhanced channel open probability -CFTR,D110H/R352Q,Significantly enhanced channel open probability -CFTR,R352Q/D1152H,Significantly enhanced channel open probability -CFTR,R352Q/D1270N,Significantly enhanced channel open probability -CFTR,D579G/R352Q,Significantly enhanced channel open probability -CFTR,E193K/R352Q,Significantly enhanced channel open probability -CFTR,E56K/R352Q,Significantly enhanced channel open probability -CFTR,E831X/R352Q,Significantly enhanced channel open probability -CFTR,R352Q/F1052V,Significantly enhanced channel open probability -CFTR,R352Q/F1074L,Significantly enhanced channel open probability -CFTR,R352Q/G1069R,Significantly enhanced channel open probability -CFTR,R352Q/G1244E,Significantly enhanced channel open probability -CFTR,R352Q/G1349D,Significantly enhanced channel open probability -CFTR,G178R/R352Q,Significantly enhanced channel open probability -CFTR,G551D/R352Q,Increased open channel probability -CFTR,G551S/R352Q,Significantly enhanced channel open probability -CFTR,R352Q/K1060T,Significantly enhanced channel open probability -CFTR,L206W/R352Q,Significantly enhanced channel open probability -CFTR,P67L/R352Q,Significantly enhanced channel open probability -CFTR,R352Q/R1070Q,Significantly enhanced channel open probability -CFTR,R352Q/R1070W,Significantly enhanced channel open probability -CFTR,R117C/R352Q,Significantly enhanced channel open probability -CFTR,R117H/R352Q,Significantly enhanced channel open probability -CFTR,R347H/R352Q,Significantly enhanced channel open probability -CFTR,R352Q/R352Q,Significantly enhanced channel open probability -CFTR,R74W/R352Q,Significantly enhanced channel open probability -CFTR,R352Q/S1251N,Significantly enhanced channel open probability -CFTR,R352Q/S1255P,Significantly enhanced channel open probability -CFTR,R352Q/S549N,Significantly enhanced channel open probability -CFTR,R352Q/S549R(A>C),Significantly enhanced channel open probability -CFTR,R352Q/S549R(T>G),Significantly enhanced channel open probability -CFTR,R352Q/S945L,Significantly enhanced channel open probability -CFTR,R352Q/S977F,Significantly enhanced channel open probability -CFTR,Reference/R74W,Significantly enhanced channel open probability -CFTR,R74W/F508del,Significantly enhanced channel open probability -CFTR,R74W/2789+5G->A,Significantly enhanced channel open probability -CFTR,R74W/3272-26A->G,Significantly enhanced channel open probability -CFTR,R74W/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,R74W/711+3A->G,Significantly enhanced channel open probability -CFTR,R74W/A1067T,Significantly enhanced channel open probability -CFTR,R74W/A455E,Significantly enhanced channel open probability -CFTR,R74W/D110E,Significantly enhanced channel open probability -CFTR,R74W/D110H,Significantly enhanced channel open probability -CFTR,R74W/D1152H,Significantly enhanced channel open probability -CFTR,R74W/D1270N,Significantly enhanced channel open probability -CFTR,R74W/D579G,Significantly enhanced channel open probability -CFTR,R74W/E193K,Significantly enhanced channel open probability -CFTR,E56K/R74W,Significantly enhanced channel open probability -CFTR,R74W/E831X,Significantly enhanced channel open probability -CFTR,R74W/F1052V,Significantly enhanced channel open probability -CFTR,R74W/F1074L,Significantly enhanced channel open probability -CFTR,R74W/G1069R,Significantly enhanced channel open probability -CFTR,R74W/G1244E,Significantly enhanced channel open probability -CFTR,R74W/G1349D,Significantly enhanced channel open probability -CFTR,R74W/G178R,Significantly enhanced channel open probability -CFTR,R74W/G551D,Increased open channel probability -CFTR,R74W/G551S,Significantly enhanced channel open probability -CFTR,R74W/K1060T,Significantly enhanced channel open probability -CFTR,R74W/L206W,Significantly enhanced channel open probability -CFTR,P67L/R74W,Significantly enhanced channel open probability -CFTR,R74W/R1070Q,Significantly enhanced channel open probability -CFTR,R74W/R1070W,Significantly enhanced channel open probability -CFTR,R74W/R117C,Significantly enhanced channel open probability -CFTR,R74W/R117H,Significantly enhanced channel open probability -CFTR,R74W/R347H,Significantly enhanced channel open probability -CFTR,R74W/R352Q,Significantly enhanced channel open probability -CFTR,R74W/R74W,Significantly enhanced channel open probability -CFTR,R74W/S1251N,Significantly enhanced channel open probability -CFTR,R74W/S1255P,Significantly enhanced channel open probability -CFTR,R74W/S549N,Significantly enhanced channel open probability -CFTR,R74W/S549R(A>C),Significantly enhanced channel open probability -CFTR,R74W/S549R(T>G),Significantly enhanced channel open probability -CFTR,R74W/S945L,Significantly enhanced channel open probability -CFTR,R74W/S977F,Significantly enhanced channel open probability -CFTR,Reference/S1251N,Significantly enhanced channel open probability -CFTR,S1251N/F508del,Significantly enhanced channel open probability -CFTR,S1251N/2789+5G->A,Significantly enhanced channel open probability -CFTR,S1251N/3272-26A->G,Significantly enhanced channel open probability -CFTR,S1251N/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,S1251N/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/S1251N,Significantly enhanced channel open probability -CFTR,A455E/S1251N,Significantly enhanced channel open probability -CFTR,D110E/S1251N,Significantly enhanced channel open probability -CFTR,D110H/S1251N,Significantly enhanced channel open probability -CFTR,D1152H/S1251N,Significantly enhanced channel open probability -CFTR,D1270N/S1251N,Significantly enhanced channel open probability -CFTR,D579G/S1251N,Significantly enhanced channel open probability -CFTR,E193K/S1251N,Significantly enhanced channel open probability -CFTR,E56K/S1251N,Significantly enhanced channel open probability -CFTR,E831X/S1251N,Significantly enhanced channel open probability -CFTR,F1052V/S1251N,Significantly enhanced channel open probability -CFTR,F1074L/S1251N,Significantly enhanced channel open probability -CFTR,G1069R/S1251N,Significantly enhanced channel open probability -CFTR,G1244E/S1251N,Significantly enhanced channel open probability -CFTR,G1349D/S1251N,Significantly enhanced channel open probability -CFTR,G178R/S1251N,Significantly enhanced channel open probability -CFTR,G551D/S1251N,Increased open channel probability -CFTR,G551S/S1251N,Significantly enhanced channel open probability -CFTR,K1060T/S1251N,Significantly enhanced channel open probability -CFTR,L206W/S1251N,Significantly enhanced channel open probability -CFTR,P67L/S1251N,Significantly enhanced channel open probability -CFTR,R1070Q/S1251N,Significantly enhanced channel open probability -CFTR,R1070W/S1251N,Significantly enhanced channel open probability -CFTR,R117C/S1251N,Significantly enhanced channel open probability -CFTR,R117H/S1251N,Significantly enhanced channel open probability -CFTR,R347H/S1251N,Significantly enhanced channel open probability -CFTR,R352Q/S1251N,Significantly enhanced channel open probability -CFTR,R74W/S1251N,Significantly enhanced channel open probability -CFTR,S1251N/S1251N,Significantly enhanced channel open probability -CFTR,S1251N/S1255P,Significantly enhanced channel open probability -CFTR,S549N/S1251N,Significantly enhanced channel open probability -CFTR,S1251N/S549R(A>C),Significantly enhanced channel open probability -CFTR,S1251N/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/S1251N,Significantly enhanced channel open probability -CFTR,S977F/S1251N,Significantly enhanced channel open probability -CFTR,Reference/S1255P,Significantly enhanced channel open probability -CFTR,S1255P/F508del,Significantly enhanced channel open probability -CFTR,S1255P/2789+5G->A,Significantly enhanced channel open probability -CFTR,S1255P/3272-26A->G,Significantly enhanced channel open probability -CFTR,S1255P/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,S1255P/711+3A->G,Significantly enhanced channel open probability -CFTR,A1067T/S1255P,Significantly enhanced channel open probability -CFTR,A455E/S1255P,Significantly enhanced channel open probability -CFTR,D110E/S1255P,Significantly enhanced channel open probability -CFTR,D110H/S1255P,Significantly enhanced channel open probability -CFTR,D1152H/S1255P,Significantly enhanced channel open probability -CFTR,D1270N/S1255P,Significantly enhanced channel open probability -CFTR,D579G/S1255P,Significantly enhanced channel open probability -CFTR,E193K/S1255P,Significantly enhanced channel open probability -CFTR,E56K/S1255P,Significantly enhanced channel open probability -CFTR,E831X/S1255P,Significantly enhanced channel open probability -CFTR,F1052V/S1255P,Significantly enhanced channel open probability -CFTR,F1074L/S1255P,Significantly enhanced channel open probability -CFTR,G1069R/S1255P,Significantly enhanced channel open probability -CFTR,G1244E/S1255P,Significantly enhanced channel open probability -CFTR,G1349D/S1255P,Significantly enhanced channel open probability -CFTR,G178R/S1255P,Significantly enhanced channel open probability -CFTR,G551D/S1255P,Increased open channel probability -CFTR,G551S/S1255P,Significantly enhanced channel open probability -CFTR,K1060T/S1255P,Significantly enhanced channel open probability -CFTR,L206W/S1255P,Significantly enhanced channel open probability -CFTR,P67L/S1255P,Significantly enhanced channel open probability -CFTR,R1070Q/S1255P,Significantly enhanced channel open probability -CFTR,R1070W/S1255P,Significantly enhanced channel open probability -CFTR,R117C/S1255P,Significantly enhanced channel open probability -CFTR,R117H/S1255P,Significantly enhanced channel open probability -CFTR,R347H/S1255P,Significantly enhanced channel open probability -CFTR,R352Q/S1255P,Significantly enhanced channel open probability -CFTR,R74W/S1255P,Significantly enhanced channel open probability -CFTR,S1251N/S1255P,Significantly enhanced channel open probability -CFTR,S1255P/S1255P,Significantly enhanced channel open probability -CFTR,S549N/S1255P,Significantly enhanced channel open probability -CFTR,S1255P/S549R(A>C),Significantly enhanced channel open probability -CFTR,S1255P/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/S1255P,Significantly enhanced channel open probability -CFTR,S977F/S1255P,Significantly enhanced channel open probability -CFTR,Reference/S549N,Significantly enhanced channel open probability -CFTR,S549N/F508del,Significantly enhanced channel open probability -CFTR,S549N/2789+5G->A,Significantly enhanced channel open probability -CFTR,S549N/3272-26A->G,Significantly enhanced channel open probability -CFTR,S549N/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,S549N/711+3A->G,Significantly enhanced channel open probability -CFTR,S549N/A1067T,Significantly enhanced channel open probability -CFTR,A455E/S549N,Significantly enhanced channel open probability -CFTR,D110E/S549N,Significantly enhanced channel open probability -CFTR,D110H/S549N,Significantly enhanced channel open probability -CFTR,S549N/D1152H,Significantly enhanced channel open probability -CFTR,S549N/D1270N,Significantly enhanced channel open probability -CFTR,D579G/S549N,Significantly enhanced channel open probability -CFTR,E193K/S549N,Significantly enhanced channel open probability -CFTR,E56K/S549N,Significantly enhanced channel open probability -CFTR,E831X/S549N,Significantly enhanced channel open probability -CFTR,S549N/F1052V,Significantly enhanced channel open probability -CFTR,S549N/F1074L,Significantly enhanced channel open probability -CFTR,S549N/G1069R,Significantly enhanced channel open probability -CFTR,S549N/G1244E,Significantly enhanced channel open probability -CFTR,S549N/G1349D,Significantly enhanced channel open probability -CFTR,G178R/S549N,Significantly enhanced channel open probability -CFTR,G551D/S549N,Increased open channel probability -CFTR,G551S/S549N,Significantly enhanced channel open probability -CFTR,S549N/K1060T,Significantly enhanced channel open probability -CFTR,L206W/S549N,Significantly enhanced channel open probability -CFTR,P67L/S549N,Significantly enhanced channel open probability -CFTR,S549N/R1070Q,Significantly enhanced channel open probability -CFTR,S549N/R1070W,Significantly enhanced channel open probability -CFTR,R117C/S549N,Significantly enhanced channel open probability -CFTR,R117H/S549N,Significantly enhanced channel open probability -CFTR,R347H/S549N,Significantly enhanced channel open probability -CFTR,R352Q/S549N,Significantly enhanced channel open probability -CFTR,R74W/S549N,Significantly enhanced channel open probability -CFTR,S549N/S1251N,Significantly enhanced channel open probability -CFTR,S549N/S1255P,Significantly enhanced channel open probability -CFTR,S549N/S549N,Significantly enhanced channel open probability -CFTR,S549N/S549R(A>C),Significantly enhanced channel open probability -CFTR,S549N/S549R(T>G),Significantly enhanced channel open probability -CFTR,S549N/S945L,Significantly enhanced channel open probability -CFTR,S549N/S977F,Significantly enhanced channel open probability -CFTR,Reference/S549R(A>C),Significantly enhanced channel open probability -CFTR,F508del/S549R(A>C),Significantly enhanced channel open probability -CFTR,2789+5G->A/S549R(A>C),Significantly enhanced channel open probability -CFTR,S549R(A>C)/3272-26A->G,Significantly enhanced channel open probability -CFTR,S549R(A>C)/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,711+3A->G/S549R(A>C),Significantly enhanced channel open probability -CFTR,A1067T/S549R(A>C),Significantly enhanced channel open probability -CFTR,A455E/S549R(A>C),Significantly enhanced channel open probability -CFTR,D110E/S549R(A>C),Significantly enhanced channel open probability -CFTR,D110H/S549R(A>C),Significantly enhanced channel open probability -CFTR,D1152H/S549R(A>C),Significantly enhanced channel open probability -CFTR,D1270N/S549R(A>C),Significantly enhanced channel open probability -CFTR,D579G/S549R(A>C),Significantly enhanced channel open probability -CFTR,E193K/S549R(A>C),Significantly enhanced channel open probability -CFTR,E56K/S549R(A>C),Significantly enhanced channel open probability -CFTR,E831X/S549R(A>C),Significantly enhanced channel open probability -CFTR,F1052V/S549R(A>C),Significantly enhanced channel open probability -CFTR,F1074L/S549R(A>C),Significantly enhanced channel open probability -CFTR,G1069R/S549R(A>C),Significantly enhanced channel open probability -CFTR,G1244E/S549R(A>C),Significantly enhanced channel open probability -CFTR,G1349D/S549R(A>C),Significantly enhanced channel open probability -CFTR,G178R/S549R(A>C),Significantly enhanced channel open probability -CFTR,G551D/S549R(A>C),Increased open channel probability -CFTR,G551S/S549R(A>C),Significantly enhanced channel open probability -CFTR,K1060T/S549R(A>C),Significantly enhanced channel open probability -CFTR,L206W/S549R(A>C),Significantly enhanced channel open probability -CFTR,P67L/S549R(A>C),Significantly enhanced channel open probability -CFTR,R1070Q/S549R(A>C),Significantly enhanced channel open probability -CFTR,R1070W/S549R(A>C),Significantly enhanced channel open probability -CFTR,R117C/S549R(A>C),Significantly enhanced channel open probability -CFTR,R117H/S549R(A>C),Significantly enhanced channel open probability -CFTR,R347H/S549R(A>C),Significantly enhanced channel open probability -CFTR,R352Q/S549R(A>C),Significantly enhanced channel open probability -CFTR,R74W/S549R(A>C),Significantly enhanced channel open probability -CFTR,S1251N/S549R(A>C),Significantly enhanced channel open probability -CFTR,S1255P/S549R(A>C),Significantly enhanced channel open probability -CFTR,S549N/S549R(A>C),Significantly enhanced channel open probability -CFTR,S549R(A>C)/S549R(A>C),Significantly enhanced channel open probability -CFTR,S549R(A>C)/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/S549R(A>C),Significantly enhanced channel open probability -CFTR,S977F/S549R(A>C),Significantly enhanced channel open probability -CFTR,Reference/S549R(T>G),Significantly enhanced channel open probability -CFTR,F508del/S549R(T>G),Significantly enhanced channel open probability -CFTR,2789+5G->A/S549R(T>G),Significantly enhanced channel open probability -CFTR,S549R(T>G)/3272-26A->G,Significantly enhanced channel open probability -CFTR,S549R(T>G)/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,711+3A->G/S549R(T>G),Significantly enhanced channel open probability -CFTR,A1067T/S549R(T>G),Significantly enhanced channel open probability -CFTR,A455E/S549R(T>G),Significantly enhanced channel open probability -CFTR,D110E/S549R(T>G),Significantly enhanced channel open probability -CFTR,D110H/S549R(T>G),Significantly enhanced channel open probability -CFTR,D1152H/S549R(T>G),Significantly enhanced channel open probability -CFTR,D1270N/S549R(T>G),Significantly enhanced channel open probability -CFTR,D579G/S549R(T>G),Significantly enhanced channel open probability -CFTR,E193K/S549R(T>G),Significantly enhanced channel open probability -CFTR,E56K/S549R(T>G),Significantly enhanced channel open probability -CFTR,E831X/S549R(T>G),Significantly enhanced channel open probability -CFTR,F1052V/S549R(T>G),Significantly enhanced channel open probability -CFTR,F1074L/S549R(T>G),Significantly enhanced channel open probability -CFTR,G1069R/S549R(T>G),Significantly enhanced channel open probability -CFTR,G1244E/S549R(T>G),Significantly enhanced channel open probability -CFTR,G1349D/S549R(T>G),Significantly enhanced channel open probability -CFTR,G178R/S549R(T>G),Significantly enhanced channel open probability -CFTR,G551D/S549R(T>G),Increased open channel probability -CFTR,G551S/S549R(T>G),Significantly enhanced channel open probability -CFTR,K1060T/S549R(T>G),Significantly enhanced channel open probability -CFTR,L206W/S549R(T>G),Significantly enhanced channel open probability -CFTR,P67L/S549R(T>G),Significantly enhanced channel open probability -CFTR,R1070Q/S549R(T>G),Significantly enhanced channel open probability -CFTR,R1070W/S549R(T>G),Significantly enhanced channel open probability -CFTR,R117C/S549R(T>G),Significantly enhanced channel open probability -CFTR,R117H/S549R(T>G),Significantly enhanced channel open probability -CFTR,R347H/S549R(T>G),Significantly enhanced channel open probability -CFTR,R352Q/S549R(T>G),Significantly enhanced channel open probability -CFTR,R74W/S549R(T>G),Significantly enhanced channel open probability -CFTR,S1251N/S549R(T>G),Significantly enhanced channel open probability -CFTR,S1255P/S549R(T>G),Significantly enhanced channel open probability -CFTR,S549N/S549R(T>G),Significantly enhanced channel open probability -CFTR,S549R(A>C)/S549R(T>G),Significantly enhanced channel open probability -CFTR,S549R(T>G)/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/S549R(T>G),Significantly enhanced channel open probability -CFTR,S977F/S549R(T>G),Significantly enhanced channel open probability -CFTR,Reference/S945L,Significantly enhanced channel open probability -CFTR,S945L/F508del,Significantly enhanced channel open probability -CFTR,S945L/2789+5G->A,Significantly enhanced channel open probability -CFTR,S945L/3272-26A->G,Significantly enhanced channel open probability -CFTR,S945L/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,S945L/711+3A->G,Significantly enhanced channel open probability -CFTR,S945L/A1067T,Significantly enhanced channel open probability -CFTR,A455E/S945L,Significantly enhanced channel open probability -CFTR,D110E/S945L,Significantly enhanced channel open probability -CFTR,D110H/S945L,Significantly enhanced channel open probability -CFTR,S945L/D1152H,Significantly enhanced channel open probability -CFTR,S945L/D1270N,Significantly enhanced channel open probability -CFTR,D579G/S945L,Significantly enhanced channel open probability -CFTR,E193K/S945L,Significantly enhanced channel open probability -CFTR,E56K/S945L,Significantly enhanced channel open probability -CFTR,E831X/S945L,Significantly enhanced channel open probability -CFTR,S945L/F1052V,Significantly enhanced channel open probability -CFTR,S945L/F1074L,Significantly enhanced channel open probability -CFTR,S945L/G1069R,Significantly enhanced channel open probability -CFTR,S945L/G1244E,Significantly enhanced channel open probability -CFTR,S945L/G1349D,Significantly enhanced channel open probability -CFTR,G178R/S945L,Significantly enhanced channel open probability -CFTR,G551D/S945L,Increased open channel probability -CFTR,G551S/S945L,Significantly enhanced channel open probability -CFTR,S945L/K1060T,Significantly enhanced channel open probability -CFTR,L206W/S945L,Significantly enhanced channel open probability -CFTR,P67L/S945L,Significantly enhanced channel open probability -CFTR,S945L/R1070Q,Significantly enhanced channel open probability -CFTR,S945L/R1070W,Significantly enhanced channel open probability -CFTR,R117C/S945L,Significantly enhanced channel open probability -CFTR,R117H/S945L,Significantly enhanced channel open probability -CFTR,R347H/S945L,Significantly enhanced channel open probability -CFTR,R352Q/S945L,Significantly enhanced channel open probability -CFTR,R74W/S945L,Significantly enhanced channel open probability -CFTR,S945L/S1251N,Significantly enhanced channel open probability -CFTR,S945L/S1255P,Significantly enhanced channel open probability -CFTR,S549N/S945L,Significantly enhanced channel open probability -CFTR,S945L/S549R(A>C),Significantly enhanced channel open probability -CFTR,S945L/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/S945L,Significantly enhanced channel open probability -CFTR,S945L/S977F,Significantly enhanced channel open probability -CFTR,Reference/S977F,Significantly enhanced channel open probability -CFTR,S977F/F508del,Significantly enhanced channel open probability -CFTR,S977F/2789+5G->A,Significantly enhanced channel open probability -CFTR,S977F/3272-26A->G,Significantly enhanced channel open probability -CFTR,S977F/3849+10kbC->T,Significantly enhanced channel open probability -CFTR,S977F/711+3A->G,Significantly enhanced channel open probability -CFTR,S977F/A1067T,Significantly enhanced channel open probability -CFTR,A455E/S977F,Significantly enhanced channel open probability -CFTR,D110E/S977F,Significantly enhanced channel open probability -CFTR,D110H/S977F,Significantly enhanced channel open probability -CFTR,S977F/D1152H,Significantly enhanced channel open probability -CFTR,S977F/D1270N,Significantly enhanced channel open probability -CFTR,D579G/S977F,Significantly enhanced channel open probability -CFTR,E193K/S977F,Significantly enhanced channel open probability -CFTR,E56K/S977F,Significantly enhanced channel open probability -CFTR,E831X/S977F,Significantly enhanced channel open probability -CFTR,S977F/F1052V,Significantly enhanced channel open probability -CFTR,S977F/F1074L,Significantly enhanced channel open probability -CFTR,S977F/G1069R,Significantly enhanced channel open probability -CFTR,S977F/G1244E,Significantly enhanced channel open probability -CFTR,S977F/G1349D,Significantly enhanced channel open probability -CFTR,G178R/S977F,Significantly enhanced channel open probability -CFTR,G551D/S977F,Increased open channel probability -CFTR,G551S/S977F,Significantly enhanced channel open probability -CFTR,S977F/K1060T,Significantly enhanced channel open probability -CFTR,L206W/S977F,Significantly enhanced channel open probability -CFTR,P67L/S977F,Significantly enhanced channel open probability -CFTR,S977F/R1070Q,Significantly enhanced channel open probability -CFTR,S977F/R1070W,Significantly enhanced channel open probability -CFTR,R117C/S977F,Significantly enhanced channel open probability -CFTR,R117H/S977F,Significantly enhanced channel open probability -CFTR,R347H/S977F,Significantly enhanced channel open probability -CFTR,R352Q/S977F,Significantly enhanced channel open probability -CFTR,R74W/S977F,Significantly enhanced channel open probability -CFTR,S977F/S1251N,Significantly enhanced channel open probability -CFTR,S977F/S1255P,Significantly enhanced channel open probability -CFTR,S549N/S977F,Significantly enhanced channel open probability -CFTR,S977F/S549R(A>C),Significantly enhanced channel open probability -CFTR,S977F/S549R(T>G),Significantly enhanced channel open probability -CFTR,S945L/S977F,Significantly enhanced channel open probability -CFTR,S977F/S977F,Significantly enhanced channel open probability \ No newline at end of file +UGT1A1,*80+*37/*80+*37,Poor Metabolizer \ No newline at end of file From 42a92258aca040cad6dba71b68e2a0e1eb0cea9f Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Sun, 12 Dec 2021 22:34:54 +0700 Subject: [PATCH 20/66] Adjustment to docs/genes.rst Co-authored-by: Seung-been "Steven" Lee --- docs/genes.rst | 10 ++++------ 1 file changed, 4 insertions(+), 6 deletions(-) diff --git a/docs/genes.rst b/docs/genes.rst index 39df3d4b..f0ee2c48 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -292,14 +292,12 @@ Diplotype-phenotype mapping is used for phenotype prediction. * - Phenotype - Example - * - Increased open channel probability - - G551D/Reference - * - No change in open channel probability + * - Favorable Response + - Reference/G551D + * - Unfavorable Response - F508del/F508del - * - Significantly enhanced channel open probability - - S1251N/F508del * - Indeterminate - - F508del/Reference + - Reference/F508del Resources for CFTR --------------------- From 58c9d0146cfeb96d43d7ca179634c38650a9e568 Mon Sep 17 00:00:00 2001 From: "Seung-been \"Steven\" Lee" Date: Mon, 13 Dec 2021 08:31:49 +0900 Subject: [PATCH 21/66] Update CHANGELOG.rst --- CHANGELOG.rst | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index 670de6f1..b4cc6bec 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -10,7 +10,7 @@ Changelog * Update :meth:`api.plot.plot_vcf_allele_fraction` method to accept both VcfFrame[Imported] and VcfFrame[Consolidated] * :issue:`32`: Update :command:`run-ngs-pipeline` method to accept phased VCF as input. In this case, the method will skip statistical haplotype phasing. * :issue:`34`: Update commands :command:`run-ngs-pipeline` and :command:`run-chip-pipeline` to load large VCF files significantly faster by allowing random access. This also means, from now on, input VCF files must be BGZF compressed (.gz) and indexed (.tbi). -* :issue:`36`: Update phenotype data for CACNA1S, CFTR, IFNL3, RYR1. +* :issue:`36`: Update phenotype data for CACNA1S, CFTR, IFNL3, RYR1 (thanks to `@NTNguyen13 `__). 0.9.0 (2021-12-05) ------------------ From 3f27eb4d2fa402674d9fec610e50ba3847348b87 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen Date: Tue, 14 Dec 2021 00:25:53 +0700 Subject: [PATCH 22/66] Update F5 docs --- docs/genes.rst | 22 ++++++++++++++++++++++ 1 file changed, 22 insertions(+) diff --git a/docs/genes.rst b/docs/genes.rst index f0ee2c48..15fa71ed 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -150,6 +150,10 @@ Below is a summary table: - - ✅ - + * - :ref:`genes:F5` + - + - ✅ + - * - G6PD - - @@ -707,6 +711,24 @@ Activity score is used for phenotype prediction. - 0 <= score < 1 - c.295_298delTCAT (\*7)/c.703C>T (\*8) +F5 +==== + +Phenotype summary for F5 +-------------------------- + +Diplotype-phenotype mapping is used for phenotype prediction. + + .. list-table:: + :header-rows: 1 + + * - Phenotype + - Example + * - Favorable Response + - Reference/Reference + * - Unfavorable Response + - Reference/c.1601G>A + GSTM1 ===== From bfc54a5b2fbc6efb0283118e40913aa17a161580 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen Date: Tue, 14 Dec 2021 00:26:54 +0700 Subject: [PATCH 23/66] Update F5 in allele table --- pypgx/api/data/allele-table.csv | 2 ++ 1 file changed, 2 insertions(+) diff --git a/pypgx/api/data/allele-table.csv b/pypgx/api/data/allele-table.csv index ba2f9d0b..85c63ebd 100644 --- a/pypgx/api/data/allele-table.csv +++ b/pypgx/api/data/allele-table.csv @@ -700,6 +700,8 @@ DPYD,c.3061G>C,1,Normal Function,1-97544549-C-G,N/A,1-97078993-C-G,N/A,FALSE DPYD,c.3067C>A,1,Normal Function,1-97544543-G-T,N/A,1-97078987-G-T,N/A,FALSE DPYD,c.525G>A,1,Normal Function,1-98165062-C-T,N/A,1-97699506-C-T,N/A,FALSE DPYD,c.1371C>T,1,Normal Function,1-98015269-G-A,N/A,1-97549713-G-A,N/A,FALSE +F5,Reference,N/A,Normal Function,N/A,N/A,N/A,N/A,FALSE +F5,c.1601G>A,N/A,Unknown Function,1-169519049-T-C,N/A,1-169549811-C-T,N/A,FALSE G6PD,B,N/A,Class IV (Normal),N/A,N/A,N/A,N/A,FALSE G6PD,A,N/A,Class IV (Normal),X-153763492-T-C,N/A,X-154535277-T-C,N/A,FALSE G6PD,A-.202A.376G,N/A,Class III (Deficient),"X-153763492-T-C,X-153764217-C-T",N/A,"X-154535277-T-C,X-154536002-C-T",N/A,FALSE From 6db79bb842b72045eb9cca41ea42de7b0f849403 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen Date: Tue, 14 Dec 2021 00:27:11 +0700 Subject: [PATCH 24/66] Update F5 in diplotype table --- pypgx/api/data/diplotype-table.csv | 3 +++ 1 file changed, 3 insertions(+) diff --git a/pypgx/api/data/diplotype-table.csv b/pypgx/api/data/diplotype-table.csv index 5a26b1f0..1e9a3b69 100755 --- a/pypgx/api/data/diplotype-table.csv +++ b/pypgx/api/data/diplotype-table.csv @@ -2244,6 +2244,9 @@ CYP3A5,*7/*9,Indeterminate CYP3A5,*8/*8,Indeterminate CYP3A5,*8/*9,Indeterminate CYP3A5,*9/*9,Indeterminate +F5,Reference/c.1601G>A,Unfavorable Response +F5,Reference/Reference,Favorable Response +F5,c.1601G>A/c.1601G>A,Unfavorable Response IFNL3,Reference/Reference,Favorable Response IFNL3,Reference/rs12979860,Unfavorable Response IFNL3,Reference/rs8099917,Indeterminate From 61186292969ddaa7d0ed8b64897330fd14b66770 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen Date: Tue, 14 Dec 2021 00:27:25 +0700 Subject: [PATCH 25/66] Update F5 in gene table --- pypgx/api/data/gene-table.csv | 1 + 1 file changed, 1 insertion(+) diff --git a/pypgx/api/data/gene-table.csv b/pypgx/api/data/gene-table.csv index 10bfb484..7f57d6b3 100644 --- a/pypgx/api/data/gene-table.csv +++ b/pypgx/api/data/gene-table.csv @@ -34,6 +34,7 @@ CYP19A1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*1,*1,*1,-,15:51497253-51633795,15 CYP26A1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,5.0.1,*1,*1,*1,+,10:94830646-94840641,10:93070892-93080885,"94833646,94834064,94834535,94834905,94835582,94836300,94836719,","94833880,94834289,94834826,94835064,94835717,94836453,94837641,","93073892,93074307,93074778,93075148,93075825,93076543,93076962,","93074123,93074532,93075069,93075307,93075960,93076696,93077885," DPYD,TRUE,FALSE,N/A,TRUE,FALSE,Score,8/18/21,5.0.1,Reference,c.85T>C (*9A),Reference,-,1:97540298-98389615,1:97074742-97924034,"97543298,97547885,97564044,97658624,97700407,97770814,97771732,97839116,97847948,97915614,97981281,98015115,98039315,98058773,98060614,98144650,98157272,98164906,98187065,98205947,98293669,98348819,98386439,","97544702,97548026,97564188,97658804,97700550,97770934,97771853,97839200,97848017,97915779,97981497,98015300,98039526,98058943,98060722,98144738,98157354,98165103,98187227,98206035,98293752,98348930,98386615,","97077742,97082329,97098488,97193068,97234851,97305258,97306176,97373560,97382392,97450058,97515725,97549559,97573759,97593217,97595058,97679094,97691716,97699350,97721509,97740391,97828113,97883263,97920883,","97079146,97082470,97098632,97193248,97234994,97305378,97306297,97373644,97382461,97450223,97515941,97549744,97573970,97593387,97595166,97679182,97691798,97699547,97721671,97740479,97828196,97883374,97921034," EGFR,FALSE,TRUE,N/A,TRUE,FALSE,N/A,N/A,N/A,N/A,N/A,N/A,+,7:55083713-55278773,7:55016016-55214628,"55086713,55209978,55210997,55214298,55218986,55220238,55221703,55223522,55224225,55224451,55225355,55227831,55229191,55231425,55232972,55238867,55240675,55241613,55242414,55248985,55259411,55260458,55266409,55268008,55268880,55269427,55270209,55272948,","55087058,55210130,55211181,55214433,55219055,55220357,55221845,55223639,55224352,55224525,55225446,55228031,55229324,55231516,55233130,55238906,55240817,55241736,55242513,55249171,55259567,55260534,55266556,55268106,55269048,55269475,55270318,55275773,","55019016,55142285,55143304,55146605,55151293,55152545,55154010,55155829,55156532,55156758,55157662,55160138,55161498,55163732,55165279,55171174,55172982,55173920,55174721,55181292,55191718,55192765,55198716,55200315,55201187,55201734,55202516,55205255,","55019365,55142437,55143488,55146740,55151362,55152664,55154152,55155946,55156659,55156832,55157753,55160338,55161631,55163823,55165437,55171213,55173124,55174043,55174820,55181478,55191874,55192841,55198863,55200413,55201355,55201782,55202625,55211628," +F5,TRUE,FALSE,N/A,TRUE,FALSE,Diplotype,N/A,N/A,Reference,Reference,Reference,-,chr1:169481189-169555826,chr1:169511951-169586588,"169481189,169484682,169487650,169489758,169492435,169493039,169494075,169495139,169497153,169498846,169500024,169505744,169509532,169513534,169515680,169519039,169519878,169521795,169524420,169525884,169528391,169529792,169541459,169551669,169555467,169483404,169484682,169483404,169484682,169487650,169489758,169492435,169493039,169494075,169495139,169497153,169498846,169500024,169505744,169509532,169513534,169515680,169519039,169519878,169521795,169524420,169525884,169528391,169529792,169541459,169551669,169555467","169483697,169484864,169487801,169489902,169492590,169493142,169494146,169495255,169497332,169499056,169500260,169505918,169512352,169513746,169515830,169519253,169519977,169521972,169524585,169526105,169528534,169530004,169541581,169551760,169555719,169483697,169484983,169483697,169484864,169487801,169489902,169492590,169493142,169494146,169495255,169497332,169499056,169500260,169505918,169512352,169513761,169515830,169519253,169519977,169521972,169524585,169526105,169528534,169530004,169541581,169551760,169555826","169586229,169582431,169572221,169560554,169559153,169556646,169555182,169552557,169550640,169549801,169546442,169544296,169540294,169536506,169530786,169529608,169527915,169525901,169524837,169523801,169523197,169520520,169518412,169515444,169511951,169515444,169514166,169586229,169582431,169572221,169560554,169559153,169556646,169555182,169552557,169550640,169549801,169546442,169544296,169540294,169536506,169530786,169529608,169527915,169525901,169524837,169523801,169523197,169520520,169518412,169515444,169514166","169586481,169582522,169572343,169560766,169559296,169556867,169555347,169552734,169550739,169550015,169546592,169544508,169543114,169536680,169531022,169529818,169528094,169526017,169524908,169523904,169523352,169520664,169518563,169515626,169514459,169515745,169514459,169586588,169582522,169572343,169560766,169559296,169556867,169555347,169552734,169550739,169550015,169546592,169544523,169543114,169536680,169531022,169529818,169528094,169526017,169524908,169523904,169523352,169520664,169518563,169515626,169514459" G6PD,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,B,B,B,-,X:153756604-153778233,X:154528389-154550018,"153759604,153760402,153760600,153760781,153761156,153761790,153762249,153762552,153763382,153764151,153764355,153774250,153775003,","153760305,153760495,153760677,153761017,153761343,153761884,153762375,153762711,153763600,153764260,153764393,153774378,153775233,","154531389,154532187,154532385,154532566,154532941,154533575,154534034,154534337,154535167,154535936,154536140,154546035,154546788,","154532090,154532280,154532462,154532802,154533128,154533669,154534160,154534496,154535385,154536045,154536178,154546163,154547018," GSTM1,TRUE,FALSE,N/A,TRUE,TRUE,N/A,N/A,N/A,*A,*A,*A,+,1:110227417-110239367,1:109684816-109696745,"110230417,110230791,110231294,110231669,110231846,110232892,110233075,110235827,","110230531,110230867,110231359,110231751,110231947,110232988,110233186,110236367,","109687816,109688169,109688672,109689047,109689224,109690270,109690453,109693205,","109687909,109688245,109688737,109689129,109689325,109690366,109690564,109693745," GSTP1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*A,*A,*A,+,11:67348065-67357124,11:67580811-67589653,"67351065,67351604,67351934,67352155,67352608,67353574,67353859,","67351315,67351640,67352041,67352243,67352712,67353682,67354124,","67583811,67584133,67584463,67584684,67585137,67586103,67586388,","67583844,67584169,67584570,67584772,67585241,67586211,67586653," From f3b7666cbb38925322cc19f82d758974bcd79774 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen Date: Tue, 14 Dec 2021 00:27:37 +0700 Subject: [PATCH 26/66] Update F5 in phenotype table --- pypgx/api/data/phenotype-table.csv | 3 +++ 1 file changed, 3 insertions(+) diff --git a/pypgx/api/data/phenotype-table.csv b/pypgx/api/data/phenotype-table.csv index c9df5660..4dbefc36 100644 --- a/pypgx/api/data/phenotype-table.csv +++ b/pypgx/api/data/phenotype-table.csv @@ -36,6 +36,9 @@ DPYD,Normal Metabolizer,Normal/Routine/Low Risk DPYD,Intermediate Metabolizer,Abnormal/Priority/High Risk DPYD,Poor Metabolizer,Abnormal/Priority/High Risk DPYD,Poor Metabolizer,Abnormal/Priority/High Risk +F5,Favorable Response,Normal Risk +F5,Unfavorable Response,High Risk +F5,Indeterminate,Normal Risk IFNL3,Favorable Response,None IFNL3,Unfavorable Response,None IFNL3,Indeterminate,None From adda172fe8c11fd9c3d4b35f24dba7a11d4ed383 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen Date: Tue, 14 Dec 2021 00:29:15 +0700 Subject: [PATCH 27/66] Update F5 in variant table --- pypgx/api/data/variant-table.csv | 1 + 1 file changed, 1 insertion(+) diff --git a/pypgx/api/data/variant-table.csv b/pypgx/api/data/variant-table.csv index a3fa0b21..289c695d 100644 --- a/pypgx/api/data/variant-table.csv +++ b/pypgx/api/data/variant-table.csv @@ -588,6 +588,7 @@ CYP19A1,15-51534995-A-G,15-51242798-A-G,rs2236722,15,51534995,51242798,A,A,G,W39 CYP26A1,10-94834638-C-A,10-93074881-C-A,rs61735552,10,94834638,93074881,C,C,A,R173S,N/A,N/A CYP26A1,10-94834679-C-A,10-93074922-C-A,rs1376885914,10,94834679,93074922,C,C,A,F186L,N/A,N/A CYP26A1,10-94836373-T-C,10-93076616-T-C,rs146619916,10,94836373,93076616,T,T,C,C358R,N/A,N/A +F5,1-169519049-T-C,1-169549811-C-T,rs6025,1,169519049,169549811,T,C,R534Q,N/A,N/A DPYD,1-98058899-C-A,1-97593343-C-A,rs72549306,1,98058899,97593343,C,C,A,V335L,N/A,N/A DPYD,1-98058878-C-T,1-97593322-C-T,rs183385770,1,98058878,97593322,C,C,T,D342N,N/A,N/A DPYD,1-98058845-G-A,1-97593289-G-A,rs143154602,1,98058845,97593289,G,G,A,R353C,N/A,N/A From 7d203dd4f50c2286c3b8b1502982415d47d2c224 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen Date: Tue, 14 Dec 2021 00:29:28 +0700 Subject: [PATCH 28/66] Update changelog to include F5 --- CHANGELOG.rst | 1 + 1 file changed, 1 insertion(+) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index b4cc6bec..ba98b678 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -11,6 +11,7 @@ Changelog * :issue:`32`: Update :command:`run-ngs-pipeline` method to accept phased VCF as input. In this case, the method will skip statistical haplotype phasing. * :issue:`34`: Update commands :command:`run-ngs-pipeline` and :command:`run-chip-pipeline` to load large VCF files significantly faster by allowing random access. This also means, from now on, input VCF files must be BGZF compressed (.gz) and indexed (.tbi). * :issue:`36`: Update phenotype data for CACNA1S, CFTR, IFNL3, RYR1 (thanks to `@NTNguyen13 `__). +* Update data for F5 0.9.0 (2021-12-05) ------------------ From 25723a7302c770a153504086abe4456e829b5889 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Tue, 14 Dec 2021 13:41:25 +0700 Subject: [PATCH 29/66] Adjustment to CHANGELOG.rst Co-authored-by: Seung-been "Steven" Lee --- CHANGELOG.rst | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index ba98b678..57ac625e 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -11,7 +11,7 @@ Changelog * :issue:`32`: Update :command:`run-ngs-pipeline` method to accept phased VCF as input. In this case, the method will skip statistical haplotype phasing. * :issue:`34`: Update commands :command:`run-ngs-pipeline` and :command:`run-chip-pipeline` to load large VCF files significantly faster by allowing random access. This also means, from now on, input VCF files must be BGZF compressed (.gz) and indexed (.tbi). * :issue:`36`: Update phenotype data for CACNA1S, CFTR, IFNL3, RYR1 (thanks to `@NTNguyen13 `__). -* Update data for F5 +* Add new gene: F5. 0.9.0 (2021-12-05) ------------------ From 472a861fc624eef551b7b55da789fff349b1ce9d Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Tue, 14 Dec 2021 13:41:33 +0700 Subject: [PATCH 30/66] Adjustment to docs/genes.rst Co-authored-by: Seung-been "Steven" Lee --- docs/genes.rst | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/docs/genes.rst b/docs/genes.rst index 15fa71ed..6589f223 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -712,7 +712,7 @@ Activity score is used for phenotype prediction. - c.295_298delTCAT (\*7)/c.703C>T (\*8) F5 -==== +== Phenotype summary for F5 -------------------------- From bfbf499578b6404553331752575336169cdaa7a2 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Tue, 14 Dec 2021 13:41:41 +0700 Subject: [PATCH 31/66] Adjustment to docs/genes.rst Co-authored-by: Seung-been "Steven" Lee --- docs/genes.rst | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/docs/genes.rst b/docs/genes.rst index 6589f223..2f3a8bb3 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -715,7 +715,7 @@ F5 == Phenotype summary for F5 --------------------------- +------------------------ Diplotype-phenotype mapping is used for phenotype prediction. From 90e58054a0e1d2b852ac91c2d2b021d35040628e Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Tue, 14 Dec 2021 13:43:21 +0700 Subject: [PATCH 32/66] Adjustment to pypgx/api/data/phenotype-table.csv Co-authored-by: Seung-been "Steven" Lee --- pypgx/api/data/phenotype-table.csv | 5 ++--- 1 file changed, 2 insertions(+), 3 deletions(-) diff --git a/pypgx/api/data/phenotype-table.csv b/pypgx/api/data/phenotype-table.csv index 4dbefc36..2eaf902e 100644 --- a/pypgx/api/data/phenotype-table.csv +++ b/pypgx/api/data/phenotype-table.csv @@ -36,9 +36,8 @@ DPYD,Normal Metabolizer,Normal/Routine/Low Risk DPYD,Intermediate Metabolizer,Abnormal/Priority/High Risk DPYD,Poor Metabolizer,Abnormal/Priority/High Risk DPYD,Poor Metabolizer,Abnormal/Priority/High Risk -F5,Favorable Response,Normal Risk -F5,Unfavorable Response,High Risk -F5,Indeterminate,Normal Risk +F5,Favorable Response,None +F5,Unfavorable Response,None IFNL3,Favorable Response,None IFNL3,Unfavorable Response,None IFNL3,Indeterminate,None From f6c0ccfa6cc38be9a33be277fbb6c14bb6f1ba62 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Tue, 14 Dec 2021 13:43:30 +0700 Subject: [PATCH 33/66] Adjustment to pypgx/api/data/diplotype-table.csv Co-authored-by: Seung-been "Steven" Lee --- pypgx/api/data/diplotype-table.csv | 4 ++-- 1 file changed, 2 insertions(+), 2 deletions(-) diff --git a/pypgx/api/data/diplotype-table.csv b/pypgx/api/data/diplotype-table.csv index 1e9a3b69..a989d4f7 100755 --- a/pypgx/api/data/diplotype-table.csv +++ b/pypgx/api/data/diplotype-table.csv @@ -2244,9 +2244,9 @@ CYP3A5,*7/*9,Indeterminate CYP3A5,*8/*8,Indeterminate CYP3A5,*8/*9,Indeterminate CYP3A5,*9/*9,Indeterminate -F5,Reference/c.1601G>A,Unfavorable Response F5,Reference/Reference,Favorable Response -F5,c.1601G>A/c.1601G>A,Unfavorable Response +F5,Reference/Leiden,Unfavorable Response +F5,Leiden/Leiden,Unfavorable Response IFNL3,Reference/Reference,Favorable Response IFNL3,Reference/rs12979860,Unfavorable Response IFNL3,Reference/rs8099917,Indeterminate From a2a84976a4217498691c8412e1d886f3769b275c Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Tue, 14 Dec 2021 13:47:47 +0700 Subject: [PATCH 34/66] Adjustment to pypgx/api/data/allele-table.csv Co-authored-by: Seung-been "Steven" Lee --- pypgx/api/data/allele-table.csv | 4 ++-- 1 file changed, 2 insertions(+), 2 deletions(-) diff --git a/pypgx/api/data/allele-table.csv b/pypgx/api/data/allele-table.csv index 85c63ebd..5353017e 100644 --- a/pypgx/api/data/allele-table.csv +++ b/pypgx/api/data/allele-table.csv @@ -700,8 +700,8 @@ DPYD,c.3061G>C,1,Normal Function,1-97544549-C-G,N/A,1-97078993-C-G,N/A,FALSE DPYD,c.3067C>A,1,Normal Function,1-97544543-G-T,N/A,1-97078987-G-T,N/A,FALSE DPYD,c.525G>A,1,Normal Function,1-98165062-C-T,N/A,1-97699506-C-T,N/A,FALSE DPYD,c.1371C>T,1,Normal Function,1-98015269-G-A,N/A,1-97549713-G-A,N/A,FALSE -F5,Reference,N/A,Normal Function,N/A,N/A,N/A,N/A,FALSE -F5,c.1601G>A,N/A,Unknown Function,1-169519049-T-C,N/A,1-169549811-C-T,N/A,FALSE +F5,Reference,N/A,Normal Function,1-169519049-T-C,N/A,N/A,N/A,FALSE +F5,Leiden,N/A,Unknown Function,N/A,N/A,1-169549811-C-T,N/A,FALSE G6PD,B,N/A,Class IV (Normal),N/A,N/A,N/A,N/A,FALSE G6PD,A,N/A,Class IV (Normal),X-153763492-T-C,N/A,X-154535277-T-C,N/A,FALSE G6PD,A-.202A.376G,N/A,Class III (Deficient),"X-153763492-T-C,X-153764217-C-T",N/A,"X-154535277-T-C,X-154536002-C-T",N/A,FALSE From 32d4fad8c86037c839fad7c1b378f598790d7f0e Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Tue, 14 Dec 2021 13:49:31 +0700 Subject: [PATCH 35/66] Adjustment to pypgx/api/data/variant-table.csv Co-authored-by: Seung-been "Steven" Lee --- pypgx/api/data/variant-table.csv | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/pypgx/api/data/variant-table.csv b/pypgx/api/data/variant-table.csv index 289c695d..24a0cfa9 100644 --- a/pypgx/api/data/variant-table.csv +++ b/pypgx/api/data/variant-table.csv @@ -588,7 +588,7 @@ CYP19A1,15-51534995-A-G,15-51242798-A-G,rs2236722,15,51534995,51242798,A,A,G,W39 CYP26A1,10-94834638-C-A,10-93074881-C-A,rs61735552,10,94834638,93074881,C,C,A,R173S,N/A,N/A CYP26A1,10-94834679-C-A,10-93074922-C-A,rs1376885914,10,94834679,93074922,C,C,A,F186L,N/A,N/A CYP26A1,10-94836373-T-C,10-93076616-T-C,rs146619916,10,94836373,93076616,T,T,C,C358R,N/A,N/A -F5,1-169519049-T-C,1-169549811-C-T,rs6025,1,169519049,169549811,T,C,R534Q,N/A,N/A +F5,1-169519049-T-C,1-169549811-C-T,rs6025,1,169519049,169549811,T,C,T,R534Q,N/A,N/A DPYD,1-98058899-C-A,1-97593343-C-A,rs72549306,1,98058899,97593343,C,C,A,V335L,N/A,N/A DPYD,1-98058878-C-T,1-97593322-C-T,rs183385770,1,98058878,97593322,C,C,T,D342N,N/A,N/A DPYD,1-98058845-G-A,1-97593289-G-A,rs143154602,1,98058845,97593289,G,G,A,R353C,N/A,N/A From 7fbf80978a55d743668c3144c6ca6e982fd801d8 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Tue, 14 Dec 2021 13:52:45 +0700 Subject: [PATCH 36/66] Adjustment to pypgx/api/data/gene-table.csv Co-authored-by: Seung-been "Steven" Lee --- pypgx/api/data/gene-table.csv | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/pypgx/api/data/gene-table.csv b/pypgx/api/data/gene-table.csv index 7f57d6b3..9200466b 100644 --- a/pypgx/api/data/gene-table.csv +++ b/pypgx/api/data/gene-table.csv @@ -34,7 +34,7 @@ CYP19A1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*1,*1,*1,-,15:51497253-51633795,15 CYP26A1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,5.0.1,*1,*1,*1,+,10:94830646-94840641,10:93070892-93080885,"94833646,94834064,94834535,94834905,94835582,94836300,94836719,","94833880,94834289,94834826,94835064,94835717,94836453,94837641,","93073892,93074307,93074778,93075148,93075825,93076543,93076962,","93074123,93074532,93075069,93075307,93075960,93076696,93077885," DPYD,TRUE,FALSE,N/A,TRUE,FALSE,Score,8/18/21,5.0.1,Reference,c.85T>C (*9A),Reference,-,1:97540298-98389615,1:97074742-97924034,"97543298,97547885,97564044,97658624,97700407,97770814,97771732,97839116,97847948,97915614,97981281,98015115,98039315,98058773,98060614,98144650,98157272,98164906,98187065,98205947,98293669,98348819,98386439,","97544702,97548026,97564188,97658804,97700550,97770934,97771853,97839200,97848017,97915779,97981497,98015300,98039526,98058943,98060722,98144738,98157354,98165103,98187227,98206035,98293752,98348930,98386615,","97077742,97082329,97098488,97193068,97234851,97305258,97306176,97373560,97382392,97450058,97515725,97549559,97573759,97593217,97595058,97679094,97691716,97699350,97721509,97740391,97828113,97883263,97920883,","97079146,97082470,97098632,97193248,97234994,97305378,97306297,97373644,97382461,97450223,97515941,97549744,97573970,97593387,97595166,97679182,97691798,97699547,97721671,97740479,97828196,97883374,97921034," EGFR,FALSE,TRUE,N/A,TRUE,FALSE,N/A,N/A,N/A,N/A,N/A,N/A,+,7:55083713-55278773,7:55016016-55214628,"55086713,55209978,55210997,55214298,55218986,55220238,55221703,55223522,55224225,55224451,55225355,55227831,55229191,55231425,55232972,55238867,55240675,55241613,55242414,55248985,55259411,55260458,55266409,55268008,55268880,55269427,55270209,55272948,","55087058,55210130,55211181,55214433,55219055,55220357,55221845,55223639,55224352,55224525,55225446,55228031,55229324,55231516,55233130,55238906,55240817,55241736,55242513,55249171,55259567,55260534,55266556,55268106,55269048,55269475,55270318,55275773,","55019016,55142285,55143304,55146605,55151293,55152545,55154010,55155829,55156532,55156758,55157662,55160138,55161498,55163732,55165279,55171174,55172982,55173920,55174721,55181292,55191718,55192765,55198716,55200315,55201187,55201734,55202516,55205255,","55019365,55142437,55143488,55146740,55151362,55152664,55154152,55155946,55156659,55156832,55157753,55160338,55161631,55163823,55165437,55171213,55173124,55174043,55174820,55181478,55191874,55192841,55198863,55200413,55201355,55201782,55202625,55211628," -F5,TRUE,FALSE,N/A,TRUE,FALSE,Diplotype,N/A,N/A,Reference,Reference,Reference,-,chr1:169481189-169555826,chr1:169511951-169586588,"169481189,169484682,169487650,169489758,169492435,169493039,169494075,169495139,169497153,169498846,169500024,169505744,169509532,169513534,169515680,169519039,169519878,169521795,169524420,169525884,169528391,169529792,169541459,169551669,169555467,169483404,169484682,169483404,169484682,169487650,169489758,169492435,169493039,169494075,169495139,169497153,169498846,169500024,169505744,169509532,169513534,169515680,169519039,169519878,169521795,169524420,169525884,169528391,169529792,169541459,169551669,169555467","169483697,169484864,169487801,169489902,169492590,169493142,169494146,169495255,169497332,169499056,169500260,169505918,169512352,169513746,169515830,169519253,169519977,169521972,169524585,169526105,169528534,169530004,169541581,169551760,169555719,169483697,169484983,169483697,169484864,169487801,169489902,169492590,169493142,169494146,169495255,169497332,169499056,169500260,169505918,169512352,169513761,169515830,169519253,169519977,169521972,169524585,169526105,169528534,169530004,169541581,169551760,169555826","169586229,169582431,169572221,169560554,169559153,169556646,169555182,169552557,169550640,169549801,169546442,169544296,169540294,169536506,169530786,169529608,169527915,169525901,169524837,169523801,169523197,169520520,169518412,169515444,169511951,169515444,169514166,169586229,169582431,169572221,169560554,169559153,169556646,169555182,169552557,169550640,169549801,169546442,169544296,169540294,169536506,169530786,169529608,169527915,169525901,169524837,169523801,169523197,169520520,169518412,169515444,169514166","169586481,169582522,169572343,169560766,169559296,169556867,169555347,169552734,169550739,169550015,169546592,169544508,169543114,169536680,169531022,169529818,169528094,169526017,169524908,169523904,169523352,169520664,169518563,169515626,169514459,169515745,169514459,169586588,169582522,169572343,169560766,169559296,169556867,169555347,169552734,169550739,169550015,169546592,169544523,169543114,169536680,169531022,169529818,169528094,169526017,169524908,169523904,169523352,169520664,169518563,169515626,169514459" +F5,TRUE,FALSE,N/A,TRUE,FALSE,Diplotype,N/A,N/A,Reference,Leiden,Reference,-,1:169478188-169558719,1:169508950-169589481,"169481188,169484681,169487649,169489757,169492434,169493038,169494074,169495138,169497152,169498845,169500023,169505743,169509531,169513533,169515679,169519038,169519877,169521794,169524419,169525883,169528390,169529791,169541458,169551668,169555466,","169483697,169484864,169487801,169489902,169492590,169493142,169494146,169495255,169497332,169499056,169500260,169505918,169512352,169513746,169515830,169519253,169519977,169521972,169524585,169526105,169528534,169530004,169541581,169551760,169555719,","169511950,169515443,169518411,169520519,169523196,169523800,169524836,169525900,169527914,169529607,169530785,169536505,169540293,169544295,169546441,169549800,169550639,169552556,169555181,169556645,169559152,169560553,169572220,169582430,169586228,","169514459,169515626,169518563,169520664,169523352,169523904,169524908,169526017,169528094,169529818,169531022,169536680,169543114,169544508,169546592,169550015,169550739,169552734,169555347,169556867,169559296,169560766,169572343,169582522,169586481," G6PD,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,B,B,B,-,X:153756604-153778233,X:154528389-154550018,"153759604,153760402,153760600,153760781,153761156,153761790,153762249,153762552,153763382,153764151,153764355,153774250,153775003,","153760305,153760495,153760677,153761017,153761343,153761884,153762375,153762711,153763600,153764260,153764393,153774378,153775233,","154531389,154532187,154532385,154532566,154532941,154533575,154534034,154534337,154535167,154535936,154536140,154546035,154546788,","154532090,154532280,154532462,154532802,154533128,154533669,154534160,154534496,154535385,154536045,154536178,154546163,154547018," GSTM1,TRUE,FALSE,N/A,TRUE,TRUE,N/A,N/A,N/A,*A,*A,*A,+,1:110227417-110239367,1:109684816-109696745,"110230417,110230791,110231294,110231669,110231846,110232892,110233075,110235827,","110230531,110230867,110231359,110231751,110231947,110232988,110233186,110236367,","109687816,109688169,109688672,109689047,109689224,109690270,109690453,109693205,","109687909,109688245,109688737,109689129,109689325,109690366,109690564,109693745," GSTP1,TRUE,FALSE,N/A,TRUE,FALSE,N/A,N/A,N/A,*A,*A,*A,+,11:67348065-67357124,11:67580811-67589653,"67351065,67351604,67351934,67352155,67352608,67353574,67353859,","67351315,67351640,67352041,67352243,67352712,67353682,67354124,","67583811,67584133,67584463,67584684,67585137,67586103,67586388,","67583844,67584169,67584570,67584772,67585241,67586211,67586653," From e6e77e25d78f118f0ab1702b31bfed3d13952699 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen <39985901+NTNguyen13@users.noreply.github.com> Date: Tue, 14 Dec 2021 13:53:00 +0700 Subject: [PATCH 37/66] Adjustment to docs/genes.rst Co-authored-by: Seung-been "Steven" Lee --- docs/genes.rst | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/docs/genes.rst b/docs/genes.rst index 2f3a8bb3..12c77595 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -727,7 +727,7 @@ Diplotype-phenotype mapping is used for phenotype prediction. * - Favorable Response - Reference/Reference * - Unfavorable Response - - Reference/c.1601G>A + - Reference/Leiden GSTM1 ===== From df8f0eef68b364699f7900167735440cfc14853e Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen Date: Tue, 14 Dec 2021 13:57:17 +0700 Subject: [PATCH 38/66] Add resource source to docs/genes.rst --- docs/genes.rst | 5 +++++ 1 file changed, 5 insertions(+) diff --git a/docs/genes.rst b/docs/genes.rst index 12c77595..0c6caaac 100644 --- a/docs/genes.rst +++ b/docs/genes.rst @@ -729,6 +729,11 @@ Diplotype-phenotype mapping is used for phenotype prediction. * - Unfavorable Response - Reference/Leiden +Resources for F5 +---------------- + +- `Annotation of DPWG Guideline for hormonal contraceptives for systemic use and F5 `__ + GSTM1 ===== From c8ac77eb02450dd153b911010d4b3f0fe4c7c950 Mon Sep 17 00:00:00 2001 From: Nguyen Thanh Nguyen Date: Tue, 14 Dec 2021 13:58:22 +0700 Subject: [PATCH 39/66] change F5 position to maintain alphabetical order --- pypgx/api/data/variant-table.csv | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/pypgx/api/data/variant-table.csv b/pypgx/api/data/variant-table.csv index 24a0cfa9..7177b318 100644 --- a/pypgx/api/data/variant-table.csv +++ b/pypgx/api/data/variant-table.csv @@ -588,7 +588,6 @@ CYP19A1,15-51534995-A-G,15-51242798-A-G,rs2236722,15,51534995,51242798,A,A,G,W39 CYP26A1,10-94834638-C-A,10-93074881-C-A,rs61735552,10,94834638,93074881,C,C,A,R173S,N/A,N/A CYP26A1,10-94834679-C-A,10-93074922-C-A,rs1376885914,10,94834679,93074922,C,C,A,F186L,N/A,N/A CYP26A1,10-94836373-T-C,10-93076616-T-C,rs146619916,10,94836373,93076616,T,T,C,C358R,N/A,N/A -F5,1-169519049-T-C,1-169549811-C-T,rs6025,1,169519049,169549811,T,C,T,R534Q,N/A,N/A DPYD,1-98058899-C-A,1-97593343-C-A,rs72549306,1,98058899,97593343,C,C,A,V335L,N/A,N/A DPYD,1-98058878-C-T,1-97593322-C-T,rs183385770,1,98058878,97593322,C,C,T,D342N,N/A,N/A DPYD,1-98058845-G-A,1-97593289-G-A,rs143154602,1,98058845,97593289,G,G,A,R353C,N/A,N/A @@ -672,6 +671,7 @@ DPYD,1-98060705-T-C,1-97595149-T-C,rs146356975,1,98060705,97595149,T,T,C,K290E,N DPYD,1-98060644-A-G,1-97595088-A-G,rs150437414,1,98060644,97595088,A,A,G,L310S,N/A,N/A DPYD,1-98060639-G-A,1-97595083-G-A,rs145112791,1,98060639,97595083,G,G,A,L312F,N/A,N/A DPYD,1-98058935-C-T,1-97593379-C-T,rs201018345,1,98058935,97593379,C,C,T,A323T,N/A,N/A +F5,1-169519049-T-C,1-169549811-C-T,rs6025,1,169519049,169549811,T,C,T,R534Q,N/A,N/A G6PD,X-153760261-A-C,X-154532046-A-C,N/A,X,153760261,154532046,A,A,C,F501C,N/A,N/A G6PD,X-153760272-CTTC-C,X-154532057-CTTC-C,N/A,X,153760272,154532057,CTTC,CTTC,C,K497del,N/A,N/A G6PD,X-153760297-G-A,X-154532082-G-A,N/A,X,153760297,154532082,G,G,A,P489L,N/A,N/A From 5725c436f81e7da6775e526b4839018550c28f3e Mon Sep 17 00:00:00 2001 From: Seung-been Lee Date: Tue, 14 Dec 2021 16:21:30 +0900 Subject: [PATCH 40/66] Update docs --- CHANGELOG.rst | 2 +- README.rst | 24 ++++++++++++------------ docs/create.py | 24 ++++++++++++------------ 3 files changed, 25 insertions(+), 25 deletions(-) diff --git a/CHANGELOG.rst b/CHANGELOG.rst index 57ac625e..bdbbd53c 100644 --- a/CHANGELOG.rst +++ b/CHANGELOG.rst @@ -11,7 +11,7 @@ Changelog * :issue:`32`: Update :command:`run-ngs-pipeline` method to accept phased VCF as input. In this case, the method will skip statistical haplotype phasing. * :issue:`34`: Update commands :command:`run-ngs-pipeline` and :command:`run-chip-pipeline` to load large VCF files significantly faster by allowing random access. This also means, from now on, input VCF files must be BGZF compressed (.gz) and indexed (.tbi). * :issue:`36`: Update phenotype data for CACNA1S, CFTR, IFNL3, RYR1 (thanks to `@NTNguyen13 `__). -* Add new gene: F5. +* :pr:`39`: Add new gene F5 (thanks to `@NTNguyen13 `__). 0.9.0 (2021-12-05) ------------------ diff --git a/README.rst b/README.rst index 71d85180..97738e23 100644 --- a/README.rst +++ b/README.rst @@ -36,7 +36,7 @@ available at the `Read the Docs `_. PyPGx is compatible with both of the Genome Reference Consortium Human (GRCh) builds, GRCh37 (hg19) and GRCh38 (hg38). -There are currently 57 pharmacogenes in PyPGx: +There are currently 58 pharmacogenes in PyPGx: .. list-table:: @@ -71,35 +71,35 @@ There are currently 57 pharmacogenes in PyPGx: - CYP19A1 - CYP26A1 * - DPYD + - F5 - G6PD - GSTM1 - GSTP1 - - GSTT1 - * - IFNL3 + * - GSTT1 + - IFNL3 - NAT1 - NAT2 - NUDT15 - - POR - * - PTGIS + * - POR + - PTGIS - RYR1 - SLC15A2 - SLC22A2 - - SLCO1B1 - * - SLCO1B3 + * - SLCO1B1 + - SLCO1B3 - SLCO2B1 - SULT1A1 - TBXAS1 - - TPMT - * - UGT1A1 + * - TPMT + - UGT1A1 - UGT1A4 - UGT2B7 - UGT2B15 - - UGT2B17 - * - VKORC1 + * - UGT2B17 + - VKORC1 - XPC - - - - Your contributions (e.g. feature ideas, pull requests) are most welcome. diff --git a/docs/create.py b/docs/create.py index eee7c95d..302a512c 100644 --- a/docs/create.py +++ b/docs/create.py @@ -63,7 +63,7 @@ PyPGx is compatible with both of the Genome Reference Consortium Human (GRCh) builds, GRCh37 (hg19) and GRCh38 (hg38). -There are currently 57 pharmacogenes in PyPGx: +There are currently 58 pharmacogenes in PyPGx: .. list-table:: @@ -98,35 +98,35 @@ - CYP19A1 - CYP26A1 * - DPYD + - F5 - G6PD - GSTM1 - GSTP1 - - GSTT1 - * - IFNL3 + * - GSTT1 + - IFNL3 - NAT1 - NAT2 - NUDT15 - - POR - * - PTGIS + * - POR + - PTGIS - RYR1 - SLC15A2 - SLC22A2 - - SLCO1B1 - * - SLCO1B3 + * - SLCO1B1 + - SLCO1B3 - SLCO2B1 - SULT1A1 - TBXAS1 - - TPMT - * - UGT1A1 + * - TPMT + - UGT1A1 - UGT1A4 - UGT2B7 - UGT2B15 - - UGT2B17 - * - VKORC1 + * - UGT2B17 + - VKORC1 - XPC - - - - Your contributions (e.g. feature ideas, pull requests) are most welcome. 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