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}, "referenceSequence": "http://reg.genome.network/refseq/RS910634" }, { "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699762.1:c.370C>T" ], "proteinEffect": { "hgvs": "ENSP00000514570.1:p.Arg124Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910635" }, { "coordinates": [ { "allele": "T", "end": 1018, "referenceAllele": "C", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699763.1:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000514571.1:p.Arg180Ter", "hgvsWellDefined": "ENSP00000514571.1:p.Arg180_Ala208delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerAspGlyValLeuLeuCysHisProGlyTrpSerValValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910636" }, { "coordinates": [ { "allele": "T", "end": 997, "referenceAllele": "C", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699764.1:c.943C>T" ], "proteinEffect": { "hgvs": "ENSP00000514572.1:p.Arg315Ter", "hgvsWellDefined": "ENSP00000514572.1:p.Arg315_Met530delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluCysGlyLeuProPheLysProGlyArgTyrArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910637" }, { "coordinates": [ { "allele": "T", "end": 800, "referenceAllele": "C", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699765.1:c.*39C>T" ], "proteinEffect": { "hgvs": "ENSP00000514573.1:n.*39C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910638" }, { "coordinates": [ { "allele": "T", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699766.1:c.943C>T" ], "proteinEffect": { "hgvs": "ENSP00000514574.1:p.Arg315Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910639" }, { "coordinates": [ { "allele": "T", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699767.1:c.943C>T" ], "proteinEffect": { "hgvs": "ENSP00000514575.1:p.Arg315Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910640" }, { "coordinates": [ { "allele": "T", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699768.1:c.943C>T" ], "proteinEffect": { "hgvs": "ENSP00000514576.1:p.Arg315Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910641" }, { "coordinates": [ { "allele": "T", "end": 1143, "referenceAllele": "C", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699811.1:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000514614.1:p.Arg180Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910684" }, { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699813.1:n.1056C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910685" }, { "coordinates": [ { "allele": "T", "end": 566, "referenceAllele": "C", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699814.1:c.566C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910686" }, { "coordinates": [ { "allele": "T", "end": 1072, "referenceAllele": "C", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699815.1:c.*435C>T" ], "proteinEffect": { "hgvs": "ENSP00000514616.1:n.*435C>T" }, "referenceSequence": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767638" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000265849.11:c.943C>T" ], "proteinEffect": { "hgvs": "ENSP00000265849.7:p.Arg315Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS246729" }, { "coordinates": [ { "allele": "T", "end": 803, "endIntronDirection": "+", "endIntronOffset": 5308, "referenceAllele": "C", "start": 803, "startIntronDirection": "+", "startIntronOffset": 5307 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000382321.5:c.803+5308C>T" ], "proteinEffect": { "hgvs": "ENSP00000371758.4:n.803+5308C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247172" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000406569.7:n.943C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS280678" }, { "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071329" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715744.2:c.10C>T" ], "proteinEffect": { "hgvs": "XP_006715807.1:p.Arg4Ter", "hgvsWellDefined": "XP_006715807.1:p.Arg4_Asn551delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071330" }, { "coordinates": [ { "allele": "T", "end": 1003, "referenceAllele": "C", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515427.1:c.988C>T" ], "proteinEffect": { "hgvs": "XP_011513729.1:p.Arg330Ter", "hgvsWellDefined": "XP_011513729.1:p.Arg330_Asn877delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082647" }, { "coordinates": [ { "allele": "T", "end": 1003, "referenceAllele": "C", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515428.1:c.988C>T" ], "proteinEffect": { "hgvs": "XP_011513730.1:p.Arg330Ter", "hgvsWellDefined": "XP_011513730.1:p.Arg330_Asn825delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082648" }, { "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515429.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011513731.1:p.Arg209Ter", "hgvsWellDefined": "XP_011513731.1:p.Arg209_Asn756delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082649" }, { "coordinates": [ { "allele": "T", "end": 901, "referenceAllele": "C", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515430.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011513732.1:p.Arg209Ter", "hgvsWellDefined": "XP_011513732.1:p.Arg209_Asn756delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082650" }, { "@id": "http://reg.genome.network/allele/PA891864441", "coordinates": [ { "allele": "T", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.6:c.943C>T" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Arg315Ter", "hgvsWellDefined": "NP_000526.2:p.Arg315_Asn862delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510810" }, { "@id": "http://reg.genome.network/allele/PA2827098436", "coordinates": [ { "allele": "T", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Arg180Ter", "hgvsWellDefined": "NP_001308932.1:p.Arg180_Asn727delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514675" }, { "@id": "http://reg.genome.network/allele/PA2827104812", "coordinates": [ { "allele": "T", "end": 890, "referenceAllele": "C", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Arg180Ter", "hgvsWellDefined": "NP_001308933.1:p.Arg180_Asn727delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514676" }, { "@id": "http://reg.genome.network/allele/PA2827111788", "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Arg180Ter", "hgvsWellDefined": "NP_001308934.1:p.Arg180_Asn727delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514677" }, { "@id": "http://reg.genome.network/allele/PA2827115157", "coordinates": [ { "allele": "T", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.1:c.943C>T" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Arg315Ter", "hgvsWellDefined": "NP_001308935.1:p.Arg315_Asn810delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514678" }, { "@id": "http://reg.genome.network/allele/PA2827117893", "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.1:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Arg209Ter", "hgvsWellDefined": "NP_001308936.1:p.Arg209_Asn756delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514679" }, { "@id": "http://reg.genome.network/allele/PA2827120226", "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.1:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Arg209Ter", "hgvsWellDefined": "NP_001308937.1:p.Arg209_Asn756delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514680" }, { "@id": "http://reg.genome.network/allele/PA2827122988", "coordinates": [ { "allele": "T", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Arg180Ter", "hgvsWellDefined": "NP_001308938.1:p.Arg180_Asn738delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514681" }, { "@id": "http://reg.genome.network/allele/PA2827126402", "coordinates": [ { "allele": "T", "end": 890, "referenceAllele": "C", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Arg180Ter", "hgvsWellDefined": "NP_001308939.1:p.Arg180_Asn675delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514682" }, { "@id": "http://reg.genome.network/allele/PA2827128316", "coordinates": [ { "allele": "T", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.1:c.10C>T" ], "proteinEffect": { "hgvs": "NP_001308940.1:p.Arg4Ter", "hgvsWellDefined": "NP_001308940.1:p.Arg4_Asn551delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514683" }, { "@id": "http://reg.genome.network/allele/PA916025240", "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "C", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.1:c.10C>T" ], "proteinEffect": { "hgvs": "NP_001308941.1:p.Arg4Ter", "hgvsWellDefined": "NP_001308941.1:p.Arg4_Asn551delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514684" }, { "@id": "http://reg.genome.network/allele/PA2827132653", "coordinates": [ { "allele": "T", "end": 857, "referenceAllele": "C", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.1:c.370C>T" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Arg124Ter", "hgvsWellDefined": "NP_001308942.1:p.Arg124_Asn671delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514685" }, { "@id": "http://reg.genome.network/allele/PA2827135687", "coordinates": [ { "allele": "T", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.1:c.943C>T" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Arg315Ter", "hgvsWellDefined": "NP_001308943.1:p.Arg315_Asn873delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514686" }, { "@id": "http://reg.genome.network/allele/PA2827137443", "coordinates": [ { "allele": "T", "end": 1200, "referenceAllele": "C", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.1:c.634C>T" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Arg212Ter", "hgvsWellDefined": "NP_001308944.1:p.Arg212_Asn759delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514687" }, { "coordinates": [ { "allele": "T", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NR_136154.1:n.1030C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS528598" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715744.4:c.10C>T" ], "proteinEffect": { "hgvs": "XP_006715807.1:p.Arg4Ter", "hgvsWellDefined": "XP_006715807.1:p.Arg4_Asn551delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539015" }, { "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_017012342.2:c.10C>T" ], "proteinEffect": { "hgvs": "XP_016867831.1:p.Arg4Ter", "hgvsWellDefined": "XP_016867831.1:p.Arg4_Asn551delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565972" }, { "coordinates": [ { "allele": "T", "end": 1015, "referenceAllele": "C", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_024446800.1:c.538C>T" ], "proteinEffect": { "hgvs": "XP_024302568.1:p.Arg180Ter", "hgvsWellDefined": "XP_024302568.1:p.Arg180_Asn675delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580450" }, { "@id": "http://reg.genome.network/allele/PA891864441", "coordinates": [ { "allele": "T", "end": 973, "referenceAllele": "C", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.7:c.943C>T" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Arg315Ter", "hgvsWellDefined": "NP_000526.2:p.Arg315_Asn862delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265849.12:c.943C>T" }, "RefSeq": { "hgvs": "NM_000535.7:c.943C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265849.7:p.Arg315Ter" }, "RefSeq": { "hgvs": "NP_000526.2:p.Arg315Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827098436", "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Arg180Ter", "hgvsWellDefined": "NP_001308932.1:p.Arg180_Asn727delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685612" }, { "@id": "http://reg.genome.network/allele/PA2827104812", "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Arg180Ter", "hgvsWellDefined": "NP_001308933.1:p.Arg180_Asn727delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685613" }, { "@id": "http://reg.genome.network/allele/PA2827111788", "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Arg180Ter", "hgvsWellDefined": "NP_001308934.1:p.Arg180_Asn727delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685614" }, { "@id": "http://reg.genome.network/allele/PA2827115157", "coordinates": [ { "allele": "T", "end": 973, "referenceAllele": "C", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.2:c.943C>T" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Arg315Ter", "hgvsWellDefined": "NP_001308935.1:p.Arg315_Asn810delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685615" }, { "@id": "http://reg.genome.network/allele/PA2827120226", "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.2:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Arg209Ter", "hgvsWellDefined": "NP_001308937.1:p.Arg209_Asn756delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685616" }, { "@id": "http://reg.genome.network/allele/PA2827122988", "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Arg180Ter", "hgvsWellDefined": "NP_001308938.1:p.Arg180_Asn738delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685617" }, { "@id": "http://reg.genome.network/allele/PA2827126402", "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Arg180Ter", "hgvsWellDefined": "NP_001308939.1:p.Arg180_Asn675delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685618" }, { "@id": "http://reg.genome.network/allele/PA2827128316", "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.2:c.10C>T" ], "proteinEffect": { "hgvs": "NP_001308940.1:p.Arg4Ter", "hgvsWellDefined": "NP_001308940.1:p.Arg4_Asn551delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685619" }, { "@id": "http://reg.genome.network/allele/PA916025240", "coordinates": [ { "allele": "T", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.2:c.10C>T" ], "proteinEffect": { "hgvs": "NP_001308941.1:p.Arg4Ter", "hgvsWellDefined": "NP_001308941.1:p.Arg4_Asn551delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685620" }, { "@id": "http://reg.genome.network/allele/PA2827132653", "coordinates": [ { "allele": "T", "end": 800, "referenceAllele": "C", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.2:c.370C>T" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Arg124Ter", "hgvsWellDefined": "NP_001308942.1:p.Arg124_Asn671delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685621" }, { "@id": "http://reg.genome.network/allele/PA2827135687", "coordinates": [ { "allele": "T", "end": 973, "referenceAllele": "C", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.2:c.943C>T" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Arg315Ter", "hgvsWellDefined": "NP_001308943.1:p.Arg315_Asn873delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685622" }, { "@id": "http://reg.genome.network/allele/PA2827137443", "coordinates": [ { "allele": "T", "end": 1143, "referenceAllele": "C", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.2:c.634C>T" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Arg212Ter", "hgvsWellDefined": "NP_001308944.1:p.Arg212_Asn759delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685623" }, { "@id": "http://reg.genome.network/allele/PA2827117893", "coordinates": [ { "allele": "T", "end": 870, "referenceAllele": "C", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.2:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Arg209Ter", "hgvsWellDefined": "NP_001308936.1:p.Arg209_Asn756delinsHisGlnTyrProPheValValLeuAsnIleSerValAspSerGluCysValAspIleAsnValThrProAspLysArgGlnIleLeuLeuGlnGluGluLysLeuLeuLeuAlaValLeuLysThrSerLeuIleGlyMetPheAspSerAspValAsnLysLeuAsnValSerGlnGlnProLeuLeuAspValGluGlyAsnLeuIleLysMetHisAlaAlaAspLeuGluLysProMetValGluLysGlnAspGlnSerProSerLeuArgThrGlyGluGluLysLysAspValSerIleSerArgLeuArgGluAlaPheSerLeuArgHisThrThrGluAsnLysProHisSerProLysThrProGluProArgArgSerProLeuGlyGlnLysArgGlyMetLeuSerSerSerThrSerGlyAlaIleSerAspLysGlyValLeuArgProGlnLysGluAlaValSerSerSerHisGlyProSerAspProThrAspArgAlaGluValGluLysAspSerGlyHisGlySerThrSerValAspSerGluGlyPheSerIleProAspThrGlySerHisCysSerSerGluTyrAlaAlaSerSerProGlyAspArgGlySerGlnGluHisValAspSerGlnGluLysAlaProLysThrAspAspSerPheSerAspValAspCysHisSerAsnGlnGluAspThrGlyCysLysPheArgValLeuProGlnProThrAsnLeuAlaThrProAsnThrLysArgPheLysLysGluGluIleLeuSerSerSerAspIleCysGlnLysLeuValAsnThrGlnAspMetSerAlaSerGlnValAspValAlaValLysIleAsnLysLysValValProLeuAspPheSerMetSerSerLeuAlaLysArgIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718053" } ], "type": "nucleotide" }