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"ENSP00000514572.1:p.Lys413_Met530delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluCysGlyLeuProPheLysProGlyArgTyrArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910637" }, { "coordinates": [ { "allele": "T", "end": 1094, "referenceAllele": "A", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699765.1:c.*333A>T" ], "proteinEffect": { "hgvs": "ENSP00000514573.1:n.*333A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910638" }, { "coordinates": [ { "allele": "T", "end": 1340, "referenceAllele": "A", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699766.1:c.1237A>T" ], "proteinEffect": { "hgvs": "ENSP00000514574.1:p.Lys413Ter", "hgvsWellDefined": "ENSP00000514574.1:p.Lys413_Asn873delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910639" }, { "coordinates": [ { "allele": "T", "end": 1340, "referenceAllele": "A", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699767.1:c.1237A>T" ], "proteinEffect": { "hgvs": "ENSP00000514575.1:p.Lys413Ter", "hgvsWellDefined": "ENSP00000514575.1:p.Lys413_Asn771delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValLysThrGlyProSerAspProArgThrSerMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910640" }, { "coordinates": [ { "allele": "T", "end": 1340, "referenceAllele": "A", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699768.1:c.1237A>T" ], "proteinEffect": { "hgvs": "ENSP00000514576.1:p.Lys413Ter", "hgvsWellDefined": "ENSP00000514576.1:p.Lys413_Asn814delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910641" }, { "coordinates": [ { "allele": "T", "end": 1437, "referenceAllele": "A", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699811.1:c.832A>T" ], "proteinEffect": { "hgvs": "ENSP00000514614.1:p.Lys278Ter", "hgvsWellDefined": "ENSP00000514614.1:p.Lys278_Asn727delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910684" }, { "coordinates": [ { "allele": "T", "end": 1350, "referenceAllele": "A", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699813.1:n.1350A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910685" }, { "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "A", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699814.1:c.860A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910686" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "A", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699815.1:c.*768A>T" ], "proteinEffect": { "hgvs": "ENSP00000514616.1:n.*768A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910687" }, { "coordinates": [ { "allele": "T", "end": 1604, "referenceAllele": "A", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699816.1:c.*127A>T" ], "proteinEffect": { "hgvs": "ENSP00000514617.1:n.*127A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910688" }, { "coordinates": [ { "allele": "T", "end": 1077, "referenceAllele": "A", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699817.1:c.*831A>T" ], "proteinEffect": { "hgvs": "ENSP00000514618.1:n.*831A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910689" }, { "coordinates": [ { "allele": "T", "end": 1457, "referenceAllele": "A", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699818.1:c.832A>T" ], "proteinEffect": { "hgvs": "ENSP00000514619.1:p.Lys278Ter", "hgvsWellDefined": "ENSP00000514619.1:p.Lys278_Asn727delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910690" }, { "coordinates": [ { "allele": "T", "end": 1308, "referenceAllele": "A", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699819.1:c.*394A>T" ], "proteinEffect": { "hgvs": "ENSP00000514620.1:n.*394A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910691" }, { "coordinates": [ { "allele": "T", "end": 1255, "endIntronDirection": "+", "endIntronOffset": 2272, "referenceAllele": "A", "start": 1255, "startIntronDirection": "+", "startIntronOffset": 2271 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699820.1:c.1144+2272A>T" ], "proteinEffect": { "hgvs": "ENSP00000514621.1:n.1144+2272A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910692" }, { "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "A", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699821.1:c.832A>T" ], "proteinEffect": { "hgvs": "ENSP00000514622.1:p.Lys278Ter", "hgvsWellDefined": "ENSP00000514622.1:p.Lys278_Asn738delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071329" }, { "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "A", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715744.2:c.304A>T" ], "proteinEffect": { "hgvs": "XP_006715807.1:p.Lys102Ter", "hgvsWellDefined": "XP_006715807.1:p.Lys102_Asn551delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071330" }, { "coordinates": [ { "allele": "T", "end": 1297, "referenceAllele": "A", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515427.1:c.1282A>T" ], "proteinEffect": { "hgvs": "XP_011513729.1:p.Lys428Ter", "hgvsWellDefined": "XP_011513729.1:p.Lys428_Asn877delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082647" }, { "coordinates": [ { "allele": "T", "end": 1141, "referenceAllele": "A", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515428.1:c.1126A>T" ], "proteinEffect": { "hgvs": "XP_011513730.1:p.Lys376Ter", "hgvsWellDefined": "XP_011513730.1:p.Lys376_Asn825delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082648" }, { "coordinates": [ { "allele": "T", "end": 1221, "referenceAllele": "A", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515429.1:c.919A>T" ], "proteinEffect": { "hgvs": "XP_011513731.1:p.Lys307Ter", "hgvsWellDefined": "XP_011513731.1:p.Lys307_Asn756delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082649" }, { "coordinates": [ { "allele": "T", "end": 1195, "referenceAllele": "A", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515430.1:c.919A>T" ], "proteinEffect": { "hgvs": "XP_011513732.1:p.Lys307Ter", "hgvsWellDefined": "XP_011513732.1:p.Lys307_Asn756delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082650" }, { "@id": "http://reg.genome.network/allele/PA3074409486", "coordinates": [ { "allele": "T", "end": 1324, "referenceAllele": "A", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.6:c.1237A>T" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Lys413Ter", "hgvsWellDefined": "NP_000526.2:p.Lys413_Asn862delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510810" }, { "coordinates": [ { "allele": "T", "end": 1319, "referenceAllele": "A", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.1:c.832A>T" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Lys278Ter", "hgvsWellDefined": "NP_001308932.1:p.Lys278_Asn727delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514675" }, { "coordinates": [ { "allele": "T", "end": 1184, "referenceAllele": "A", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.1:c.832A>T" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Lys278Ter", "hgvsWellDefined": "NP_001308933.1:p.Lys278_Asn727delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514676" }, { "coordinates": [ { "allele": "T", "end": 1436, "referenceAllele": "A", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.1:c.832A>T" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Lys278Ter", "hgvsWellDefined": "NP_001308934.1:p.Lys278_Asn727delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514677" }, { "coordinates": [ { "allele": "T", "end": 1168, "referenceAllele": "A", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.1:c.1081A>T" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Lys361Ter", "hgvsWellDefined": "NP_001308935.1:p.Lys361_Asn810delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514678" }, { "coordinates": [ { "allele": "T", "end": 1221, "referenceAllele": "A", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.1:c.919A>T" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Lys307Ter", "hgvsWellDefined": "NP_001308936.1:p.Lys307_Asn756delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514679" }, { "coordinates": [ { "allele": "T", "end": 1081, "referenceAllele": "A", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.1:c.919A>T" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Lys307Ter", "hgvsWellDefined": "NP_001308937.1:p.Lys307_Asn756delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514680" }, { "coordinates": [ { "allele": "T", "end": 1431, "referenceAllele": "A", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.1:c.832A>T" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Lys278Ter", "hgvsWellDefined": "NP_001308938.1:p.Lys278_Asn738delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514681" }, { "coordinates": [ { "allele": "T", "end": 1028, "referenceAllele": "A", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.1:c.676A>T" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Lys226Ter", "hgvsWellDefined": "NP_001308939.1:p.Lys226_Asn675delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514682" }, { "coordinates": [ { "allele": "T", "end": 1275, "referenceAllele": "A", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.1:c.304A>T" ], "proteinEffect": { "hgvs": "NP_001308940.1:p.Lys102Ter", "hgvsWellDefined": "NP_001308940.1:p.Lys102_Asn551delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514683" }, { "coordinates": [ { "allele": "T", "end": 1270, "referenceAllele": "A", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.1:c.304A>T" ], "proteinEffect": { "hgvs": "NP_001308941.1:p.Lys102Ter", "hgvsWellDefined": "NP_001308941.1:p.Lys102_Asn551delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514684" }, { "coordinates": [ { "allele": "T", "end": 1151, "referenceAllele": "A", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.1:c.664A>T" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Lys222Ter", "hgvsWellDefined": "NP_001308942.1:p.Lys222_Asn671delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514685" }, { "coordinates": [ { "allele": "T", "end": 1324, "referenceAllele": "A", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.1:c.1237A>T" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Lys413Ter", "hgvsWellDefined": "NP_001308943.1:p.Lys413_Asn873delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514686" }, { "coordinates": [ { "allele": "T", "end": 1494, "referenceAllele": "A", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.1:c.928A>T" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Lys310Ter", "hgvsWellDefined": "NP_001308944.1:p.Lys310_Asn759delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514687" }, { "coordinates": [ { "allele": "T", "end": 1324, "referenceAllele": "A", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NR_136154.1:n.1324A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS528598" }, { "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "A", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715744.4:c.304A>T" ], "proteinEffect": { "hgvs": "XP_006715807.1:p.Lys102Ter", "hgvsWellDefined": "XP_006715807.1:p.Lys102_Asn551delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539015" }, { "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "A", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_017012342.2:c.304A>T" ], "proteinEffect": { "hgvs": "XP_016867831.1:p.Lys102Ter", "hgvsWellDefined": "XP_016867831.1:p.Lys102_Asn551delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565972" }, { "coordinates": [ { "allele": "T", "end": 1153, "referenceAllele": "A", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_024446800.1:c.676A>T" ], "proteinEffect": { "hgvs": "XP_024302568.1:p.Lys226Ter", "hgvsWellDefined": "XP_024302568.1:p.Lys226_Asn675delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580450" }, { "@id": "http://reg.genome.network/allele/PA3074409486", "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "A", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.7:c.1237A>T" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Lys413Ter", "hgvsWellDefined": "NP_000526.2:p.Lys413_Asn862delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265849.12:c.1237A>T" }, "RefSeq": { "hgvs": "NM_000535.7:c.1237A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265849.7:p.Lys413Ter" }, "RefSeq": { "hgvs": "NP_000526.2:p.Lys413Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "A", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.2:c.832A>T" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Lys278Ter", "hgvsWellDefined": "NP_001308932.1:p.Lys278_Asn727delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685612" }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "A", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.2:c.832A>T" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Lys278Ter", "hgvsWellDefined": "NP_001308933.1:p.Lys278_Asn727delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685613" }, { "coordinates": [ { "allele": "T", "end": 1457, "referenceAllele": "A", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.2:c.832A>T" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Lys278Ter", "hgvsWellDefined": "NP_001308934.1:p.Lys278_Asn727delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685614" }, { "coordinates": [ { "allele": "T", "end": 1111, "referenceAllele": "A", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.2:c.1081A>T" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Lys361Ter", "hgvsWellDefined": "NP_001308935.1:p.Lys361_Asn810delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685615" }, { "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "A", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.2:c.919A>T" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Lys307Ter", "hgvsWellDefined": "NP_001308937.1:p.Lys307_Asn756delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685616" }, { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "A", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.2:c.832A>T" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Lys278Ter", "hgvsWellDefined": "NP_001308938.1:p.Lys278_Asn738delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685617" }, { "coordinates": [ { "allele": "T", "end": 971, "referenceAllele": "A", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.2:c.676A>T" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Lys226Ter", "hgvsWellDefined": "NP_001308939.1:p.Lys226_Asn675delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685618" }, { "coordinates": [ { "allele": "T", "end": 1218, "referenceAllele": "A", "start": 1217 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.2:c.304A>T" ], "proteinEffect": { "hgvs": "NP_001308940.1:p.Lys102Ter", "hgvsWellDefined": "NP_001308940.1:p.Lys102_Asn551delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685619" }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "A", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.2:c.304A>T" ], "proteinEffect": { "hgvs": "NP_001308941.1:p.Lys102Ter", "hgvsWellDefined": "NP_001308941.1:p.Lys102_Asn551delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685620" }, { "coordinates": [ { "allele": "T", "end": 1094, "referenceAllele": "A", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.2:c.664A>T" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Lys222Ter", "hgvsWellDefined": "NP_001308942.1:p.Lys222_Asn671delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685621" }, { "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "A", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.2:c.1237A>T" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Lys413Ter", "hgvsWellDefined": "NP_001308943.1:p.Lys413_Asn873delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685622" }, { "coordinates": [ { "allele": "T", "end": 1437, "referenceAllele": "A", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.2:c.928A>T" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Lys310Ter", "hgvsWellDefined": "NP_001308944.1:p.Lys310_Asn759delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685623" }, { "coordinates": [ { "allele": "T", "end": 1164, "referenceAllele": "A", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.2:c.919A>T" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Lys307Ter", "hgvsWellDefined": "NP_001308936.1:p.Lys307_Asn756delinsAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718053" } ], "type": "nucleotide" }