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"http://reg.genome.network/refseq/RS910822" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699952.1:c.400C>T" ], "proteinEffect": { "hgvs": "ENSP00000514707.1:p.Arg134Ter", "hgvsWellDefined": "ENSP00000514707.1:p.Arg134_Phe267delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910823" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699953.1:c.400C>T" ], "proteinEffect": { "hgvs": "ENSP00000514708.1:p.Arg134Ter", "hgvsWellDefined": "ENSP00000514708.1:p.Arg134_Leu264delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnHisLeuArgPheHisPheThrMetHisAlaTrpSerTrpLysGluPheAsnArgGlnThrValPheLeuTyrGlnProAlaAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910824" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699954.1:c.400C>T" ], "proteinEffect": { "hgvs": "ENSP00000514709.1:p.Arg134Ter", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS742894", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265849.12:c.400C>T" }, "RefSeq": { "hgvs": "NM_000535.7:c.400C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265849.7:p.Arg134Ter" }, "RefSeq": { "hgvs": "NP_000526.2:p.Arg134Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 338, "referenceAllele": "C", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000642292.1:c.-6C>T" ], "proteinEffect": { "hgvs": "ENSP00000495524.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766664" }, { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000642456.1:c.-6C>T" ], "proteinEffect": { "hgvs": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767638" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "C", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000265849.11:c.400C>T" ], "proteinEffect": { "hgvs": "ENSP00000265849.7:p.Arg134Ter", "hgvsWellDefined": "ENSP00000265849.7:p.Arg134_Asn862delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246729" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000380416.5:n.479C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS272916" }, { "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000382321.5:c.400C>T" ], "proteinEffect": { "hgvs": "ENSP00000371758.4:p.Arg134Ter", "hgvsWellDefined": "ENSP00000371758.4:p.Arg134_Asn461delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247172" }, { "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000406569.7:n.400C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS280678" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000441476.6:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000392843.2:p.Arg28Ter", "hgvsWellDefined": "ENSP00000392843.2:p.Arg28_Asn756delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247356" }, { "coordinates": [ { "allele": "T", "end": 62, "endIntronDirection": "+", "endIntronOffset": 3403, "referenceAllele": "C", "start": 62, "startIntronDirection": "+", "startIntronOffset": 3402 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000469652.1:n.62+3403C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS312285" }, { "@id": "http://reg.genome.network/allele/PA287630", "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "C", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.5:c.400C>T", "LRG_161t1:c.400C>T" ], "proteinEffect": { "hgvs": "NP_000526.1:p.Arg134Ter", "hgvsWellDefined": "NP_000526.1:p.Arg134_Asn862delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProGluThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006593" }, { "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NR_003085.2:n.482C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS046147" }, { "coordinates": [ { "allele": "T", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715742.2:c.394C>T" ], "proteinEffect": { "hgvs": "XP_006715805.1:p.Arg132Ter", "hgvsWellDefined": "XP_006715805.1:p.Arg132_Asn860delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071329" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515427.1:c.445C>T" ], "proteinEffect": { "hgvs": "XP_011513729.1:p.Arg149Ter", "hgvsWellDefined": "XP_011513729.1:p.Arg149_Asn877delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082647" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515428.1:c.445C>T" ], "proteinEffect": { "hgvs": "XP_011513730.1:p.Arg149Ter", "hgvsWellDefined": "XP_011513730.1:p.Arg149_Asn825delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082648" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515429.1:c.82C>T" ], "proteinEffect": { "hgvs": "XP_011513731.1:p.Arg28Ter", "hgvsWellDefined": "XP_011513731.1:p.Arg28_Asn756delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082649" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515430.1:c.82C>T" ], "proteinEffect": { "hgvs": "XP_011513732.1:p.Arg28Ter", "hgvsWellDefined": "XP_011513732.1:p.Arg28_Asn756delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082650" }, { "@id": "http://reg.genome.network/allele/PA891864178", "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "C", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.6:c.400C>T" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Arg134Ter", "hgvsWellDefined": "NP_000526.2:p.Arg134_Asn862delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510810" }, { "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001308932.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS514675" }, { "coordinates": [ { "allele": "T", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001308933.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS514676" }, { "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001308934.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS514677" }, { "@id": "http://reg.genome.network/allele/PA2827114421", "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "C", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.1:c.400C>T" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Arg134Ter", "hgvsWellDefined": "NP_001308935.1:p.Arg134_Asn810delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514678" }, { "@id": "http://reg.genome.network/allele/PA2827117157", "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.1:c.82C>T" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Arg28Ter", "hgvsWellDefined": "NP_001308936.1:p.Arg28_Asn756delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514679" }, { "@id": "http://reg.genome.network/allele/PA2827120037", "coordinates": [ { "allele": "T", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.1:c.82C>T" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Arg28Ter", "hgvsWellDefined": "NP_001308937.1:p.Arg28_Asn756delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514680" }, { "coordinates": [ { "allele": "T", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001308938.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS514681" }, { "coordinates": [ { "allele": "T", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001308939.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS514682" }, { "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "C", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.1:c.-485C>T" ], "proteinEffect": { "hgvs": "NP_001308940.1:n.-485C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS514683" }, { "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.1:c.-485C>T" ], "proteinEffect": { "hgvs": "NP_001308941.1:n.-485C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS514684" }, { "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001308942.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS514685" }, { "@id": "http://reg.genome.network/allele/PA2827135018", "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "C", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.1:c.400C>T" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Arg134Ter", "hgvsWellDefined": "NP_001308943.1:p.Arg134_Asn873delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514686" }, { "@id": "http://reg.genome.network/allele/PA916026366", "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.1:c.91C>T" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Arg31Ter", "hgvsWellDefined": "NP_001308944.1:p.Arg31_Asn759delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514687" }, { "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "C", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NR_136154.1:n.487C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS528598" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_017012342.2:c.-385C>T" ], "proteinEffect": { "hgvs": "XP_016867831.1:n.-385C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS565972" }, { "coordinates": [ { "allele": "T", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_024446800.1:c.-6C>T" ], "proteinEffect": { "hgvs": "XP_024302568.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580450" }, { "@id": "http://reg.genome.network/allele/PA891864178", "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.7:c.400C>T" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Arg134Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS662478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265849.12:c.400C>T" }, "RefSeq": { "hgvs": "NM_000535.7:c.400C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265849.7:p.Arg134Ter" }, "RefSeq": { "hgvs": "NP_000526.2:p.Arg134Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001308932.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS685612" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001308933.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS685613" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "C", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001308934.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS685614" }, { "@id": "http://reg.genome.network/allele/PA2827114421", "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.2:c.400C>T" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Arg134Ter", "hgvsWellDefined": "NP_001308935.1:p.Arg134_Asn810delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685615" }, { "@id": "http://reg.genome.network/allele/PA2827120037", "coordinates": [ { "allele": "T", "end": 187, "referenceAllele": "C", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.2:c.82C>T" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Arg28Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS685616" }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001308938.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS685617" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001308939.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS685618" }, { "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.2:c.-485C>T" ], "proteinEffect": { "hgvs": "NP_001308940.1:n.-485C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS685619" }, { "coordinates": [ { "allele": "T", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.2:c.-485C>T" ], "proteinEffect": { "hgvs": "NP_001308941.1:n.-485C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS685620" }, { "coordinates": [ { "allele": "T", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001308942.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS685621" }, { "@id": "http://reg.genome.network/allele/PA2827135018", "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.2:c.400C>T" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Arg134Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS685622" }, { "@id": "http://reg.genome.network/allele/PA916026366", "coordinates": [ { "allele": "T", "end": 600, "referenceAllele": "C", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.2:c.91C>T" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Arg31Ter", "hgvsWellDefined": "NP_001308944.1:p.Arg31_Asn759delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685623" }, { "@id": "http://reg.genome.network/allele/PA2827117157", "coordinates": [ { "allele": "T", "end": 327, "referenceAllele": "C", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.2:c.82C>T" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Arg28Ter", "hgvsWellDefined": "NP_001308936.1:p.Arg28_Asn756delinsLeuMetPheAspHisAsnGlyLysIleIleGlnLysThrProTyrProArgProArgGlyThrThrValSerValGlnGlnLeuPheSerThrLeuProValArgHisLysGluPheGlnArgAsnIleLysLysGluTyrAlaLysMetValGlnValLeuHisAlaTyrCysIleIleSerAlaGlyIleArgValSerCysThrAsnGlnLeuGlyGlnGlyLysArgGlnProValValCysThrGlyGlySerProSerIleLysGluAsnIleGlySerValPheGlyGlnLysGlnLeuGlnSerLeuIleProPheValGlnLeuProProSerAspSerValCysGluGluTyrGlyLeuSerCysSerAspAlaLeuHisAsnLeuPheTyrIleSerGlyPheIleSerGlnCysThrHisGlyValGlyArgSerSerThrAspArgGlnPhePhePheIleAsnArgArgProCysAspProAlaLysValCysArgLeuValAsnGluValTyrHisMetTyrAsnArgHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718053" } ], "type": "nucleotide" }