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"C", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515430.1:c.1564C>T" ], "proteinEffect": { "hgvs": "XP_011513732.1:p.Arg522Ter", "hgvsWellDefined": "XP_011513732.1:p.Arg522_Asn756delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082650" }, { "@id": "http://reg.genome.network/allele/PA891864820", "coordinates": [ { "allele": "T", "end": 1969, "referenceAllele": "C", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.6:c.1882C>T" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Arg628Ter", "hgvsWellDefined": "NP_000526.2:p.Arg628_Asn862delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510810" }, { "@id": "http://reg.genome.network/allele/PA2827101241", "coordinates": [ { "allele": "T", "end": 1964, "referenceAllele": "C", "start": 1963 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.1:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Arg493Ter", "hgvsWellDefined": "NP_001308932.1:p.Arg493_Asn727delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514675" }, { "@id": "http://reg.genome.network/allele/PA2827107965", "coordinates": [ { "allele": "T", "end": 1829, "referenceAllele": "C", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.1:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Arg493Ter", "hgvsWellDefined": "NP_001308933.1:p.Arg493_Asn727delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514676" }, { "@id": "http://reg.genome.network/allele/PA2827112992", "coordinates": [ { "allele": "T", "end": 2081, "referenceAllele": "C", "start": 2080 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.1:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Arg493Ter", "hgvsWellDefined": "NP_001308934.1:p.Arg493_Asn727delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514677" }, { "@id": "http://reg.genome.network/allele/PA2827116173", "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.1:c.1726C>T" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Arg576Ter", "hgvsWellDefined": "NP_001308935.1:p.Arg576_Asn810delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514678" }, { "@id": "http://reg.genome.network/allele/PA2827119100", "coordinates": [ { "allele": "T", "end": 1866, "referenceAllele": "C", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.1:c.1564C>T" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Arg522Ter", "hgvsWellDefined": "NP_001308936.1:p.Arg522_Asn756delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514679" }, { "@id": "http://reg.genome.network/allele/PA2827120506", "coordinates": [ { "allele": "T", "end": 1726, "referenceAllele": "C", "start": 1725 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.1:c.1564C>T" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Arg522Ter", "hgvsWellDefined": "NP_001308937.1:p.Arg522_Asn756delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514680" }, { "@id": "http://reg.genome.network/allele/PA2827124834", "coordinates": [ { "allele": "T", "end": 2076, "referenceAllele": "C", "start": 2075 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.1:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Arg493Ter", "hgvsWellDefined": "NP_001308938.1:p.Arg493_Asn738delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514681" }, { "@id": "http://reg.genome.network/allele/PA2827127417", "coordinates": [ { "allele": "T", "end": 1673, "referenceAllele": "C", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.1:c.1321C>T" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Arg441Ter", "hgvsWellDefined": "NP_001308939.1:p.Arg441_Asn675delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514682" }, { "@id": "http://reg.genome.network/allele/PA2827129522", "coordinates": [ { "allele": "T", "end": 1920, "referenceAllele": "C", "start": 1919 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.1:c.949C>T" ], "proteinEffect": { "hgvs": "NP_001308940.1:p.Arg317Ter", "hgvsWellDefined": "NP_001308940.1:p.Arg317_Asn551delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514683" }, { "@id": "http://reg.genome.network/allele/PA2827131431", "coordinates": [ { "allele": "T", "end": 1915, "referenceAllele": "C", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.1:c.949C>T" ], "proteinEffect": { "hgvs": "NP_001308941.1:p.Arg317Ter", "hgvsWellDefined": "NP_001308941.1:p.Arg317_Asn551delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514684" }, { "@id": "http://reg.genome.network/allele/PA2827133857", "coordinates": [ { "allele": "T", "end": 1796, "referenceAllele": "C", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.1:c.1309C>T" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Arg437Ter", "hgvsWellDefined": "NP_001308942.1:p.Arg437_Asn671delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514685" }, { "@id": "http://reg.genome.network/allele/PA916026052", "coordinates": [ { "allele": "T", "end": 1969, "referenceAllele": "C", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.1:c.1882C>T" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Arg628Ter", "hgvsWellDefined": "NP_001308943.1:p.Arg628_Asn873delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514686" }, { "@id": "http://reg.genome.network/allele/PA2827138651", "coordinates": [ { "allele": "T", "end": 2139, "referenceAllele": "C", "start": 2138 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.1:c.1573C>T" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Arg525Ter", "hgvsWellDefined": "NP_001308944.1:p.Arg525_Asn759delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514687" }, { "coordinates": [ { "allele": "T", "end": 1969, "referenceAllele": "C", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NR_136154.1:n.1969C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS528598" }, { "coordinates": [ { "allele": "T", "end": 1045, "referenceAllele": "C", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715744.4:c.949C>T" ], "proteinEffect": { "hgvs": "XP_006715807.1:p.Arg317Ter", "hgvsWellDefined": "XP_006715807.1:p.Arg317_Asn551delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539015" }, { "coordinates": [ { "allele": "T", "end": 1794, "referenceAllele": "C", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_017012342.2:c.949C>T" ], "proteinEffect": { "hgvs": "XP_016867831.1:p.Arg317Ter", "hgvsWellDefined": "XP_016867831.1:p.Arg317_Asn551delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565972" }, { "coordinates": [ { "allele": "T", "end": 1798, "referenceAllele": "C", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_024446800.1:c.1321C>T" ], "proteinEffect": { "hgvs": "XP_024302568.1:p.Arg441Ter", "hgvsWellDefined": "XP_024302568.1:p.Arg441_Asn675delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580450" }, { "@id": "http://reg.genome.network/allele/PA891864820", "coordinates": [ { "allele": "T", "end": 1912, "referenceAllele": "C", "start": 1911 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.7:c.1882C>T" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Arg628Ter", "hgvsWellDefined": "NP_000526.2:p.Arg628_Asn862delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265849.12:c.1882C>T" }, "RefSeq": { "hgvs": "NM_000535.7:c.1882C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265849.7:p.Arg628Ter" }, "RefSeq": { "hgvs": "NP_000526.2:p.Arg628Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827101241", "coordinates": [ { "allele": "T", "end": 1907, "referenceAllele": "C", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.2:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Arg493Ter", "hgvsWellDefined": "NP_001308932.1:p.Arg493_Asn727delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685612" }, { "@id": "http://reg.genome.network/allele/PA2827107965", "coordinates": [ { "allele": "T", "end": 1772, "referenceAllele": "C", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.2:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Arg493Ter", "hgvsWellDefined": "NP_001308933.1:p.Arg493_Asn727delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685613" }, { "@id": "http://reg.genome.network/allele/PA2827112992", "coordinates": [ { "allele": "T", "end": 2102, "referenceAllele": "C", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.2:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Arg493Ter", "hgvsWellDefined": "NP_001308934.1:p.Arg493_Asn727delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685614" }, { "@id": "http://reg.genome.network/allele/PA2827116173", "coordinates": [ { "allele": "T", "end": 1756, "referenceAllele": "C", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.2:c.1726C>T" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Arg576Ter", "hgvsWellDefined": "NP_001308935.1:p.Arg576_Asn810delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685615" }, { "@id": "http://reg.genome.network/allele/PA2827120506", "coordinates": [ { "allele": "T", "end": 1669, "referenceAllele": "C", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.2:c.1564C>T" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Arg522Ter", "hgvsWellDefined": "NP_001308937.1:p.Arg522_Asn756delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685616" }, { "@id": "http://reg.genome.network/allele/PA2827124834", "coordinates": [ { "allele": "T", "end": 2097, "referenceAllele": "C", "start": 2096 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.2:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Arg493Ter", "hgvsWellDefined": "NP_001308938.1:p.Arg493_Asn738delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685617" }, { "@id": "http://reg.genome.network/allele/PA2827127417", "coordinates": [ { "allele": "T", "end": 1616, "referenceAllele": "C", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.2:c.1321C>T" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Arg441Ter", "hgvsWellDefined": "NP_001308939.1:p.Arg441_Asn675delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685618" }, { "@id": "http://reg.genome.network/allele/PA2827129522", "coordinates": [ { "allele": "T", "end": 1863, "referenceAllele": "C", "start": 1862 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.2:c.949C>T" ], "proteinEffect": { "hgvs": "NP_001308940.1:p.Arg317Ter", "hgvsWellDefined": "NP_001308940.1:p.Arg317_Asn551delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685619" }, { "@id": "http://reg.genome.network/allele/PA2827131431", "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.2:c.949C>T" ], "proteinEffect": { "hgvs": "NP_001308941.1:p.Arg317Ter", "hgvsWellDefined": "NP_001308941.1:p.Arg317_Asn551delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685620" }, { "@id": "http://reg.genome.network/allele/PA2827133857", "coordinates": [ { "allele": "T", "end": 1739, "referenceAllele": "C", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.2:c.1309C>T" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Arg437Ter", "hgvsWellDefined": "NP_001308942.1:p.Arg437_Asn671delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685621" }, { "@id": "http://reg.genome.network/allele/PA916026052", "coordinates": [ { "allele": "T", "end": 1912, "referenceAllele": "C", "start": 1911 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.2:c.1882C>T" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Arg628Ter", "hgvsWellDefined": "NP_001308943.1:p.Arg628_Asn873delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685622" }, { "@id": "http://reg.genome.network/allele/PA2827138651", "coordinates": [ { "allele": "T", "end": 2082, "referenceAllele": "C", "start": 2081 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.2:c.1573C>T" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Arg525Ter", "hgvsWellDefined": "NP_001308944.1:p.Arg525_Asn759delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685623" }, { "@id": "http://reg.genome.network/allele/PA2827119100", "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.2:c.1564C>T" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Arg522Ter", "hgvsWellDefined": "NP_001308936.1:p.Arg522_Asn756delinsIleLysGlnLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718053" } ], "type": "nucleotide" }