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} ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515430.1:c.1573C>T" ], "proteinEffect": { "hgvs": "XP_011513732.1:p.Gln525Ter", "hgvsWellDefined": "XP_011513732.1:p.Gln525_Asn756delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082650" }, { "@id": "http://reg.genome.network/allele/PA891864823", "coordinates": [ { "allele": "T", "end": 1978, "referenceAllele": "C", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.6:c.1891C>T" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Gln631Ter", "hgvsWellDefined": "NP_000526.2:p.Gln631_Asn862delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510810" }, { "@id": "http://reg.genome.network/allele/PA2827101273", "coordinates": [ { "allele": "T", "end": 1973, "referenceAllele": "C", "start": 1972 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.1:c.1486C>T" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Gln496Ter", "hgvsWellDefined": "NP_001308932.1:p.Gln496_Asn727delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514675" }, { "@id": "http://reg.genome.network/allele/PA2827107999", "coordinates": [ { "allele": "T", "end": 1838, "referenceAllele": "C", "start": 1837 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.1:c.1486C>T" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Gln496Ter", "hgvsWellDefined": "NP_001308933.1:p.Gln496_Asn727delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514676" }, { "@id": "http://reg.genome.network/allele/PA2827113007", "coordinates": [ { "allele": "T", "end": 2090, "referenceAllele": "C", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.1:c.1486C>T" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Gln496Ter", "hgvsWellDefined": "NP_001308934.1:p.Gln496_Asn727delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514677" }, { "@id": "http://reg.genome.network/allele/PA2827116186", "coordinates": [ { "allele": "T", "end": 1822, "referenceAllele": "C", "start": 1821 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.1:c.1735C>T" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Gln579Ter", "hgvsWellDefined": "NP_001308935.1:p.Gln579_Asn810delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514678" }, { "@id": "http://reg.genome.network/allele/PA2827119109", "coordinates": [ { "allele": "T", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.1:c.1573C>T" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Gln525Ter", "hgvsWellDefined": "NP_001308936.1:p.Gln525_Asn756delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514679" }, { "@id": "http://reg.genome.network/allele/PA2827123997", "coordinates": [ { "allele": "T", "end": 1735, "referenceAllele": "C", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.1:c.1573C>T" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Gln525Ter", "hgvsWellDefined": "NP_001308937.1:p.Gln525_Asn756delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514680" }, { "@id": "http://reg.genome.network/allele/PA2827124848", "coordinates": [ { "allele": "T", "end": 2085, "referenceAllele": "C", "start": 2084 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.1:c.1486C>T" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Gln496Ter", "hgvsWellDefined": "NP_001308938.1:p.Gln496_Asn738delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514681" }, { "@id": "http://reg.genome.network/allele/PA2827127430", "coordinates": [ { "allele": "T", "end": 1682, "referenceAllele": "C", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.1:c.1330C>T" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Gln444Ter", "hgvsWellDefined": "NP_001308939.1:p.Gln444_Asn675delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514682" }, { "@id": "http://reg.genome.network/allele/PA2827129532", "coordinates": [ { "allele": "T", "end": 1929, "referenceAllele": "C", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.1:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001308940.1:p.Gln320Ter", "hgvsWellDefined": "NP_001308940.1:p.Gln320_Asn551delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514683" }, { "@id": "http://reg.genome.network/allele/PA2827131443", "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.1:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001308941.1:p.Gln320Ter", "hgvsWellDefined": "NP_001308941.1:p.Gln320_Asn551delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514684" }, { "@id": "http://reg.genome.network/allele/PA2827133870", "coordinates": [ { "allele": "T", "end": 1805, "referenceAllele": "C", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.1:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Gln440Ter", "hgvsWellDefined": "NP_001308942.1:p.Gln440_Asn671delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514685" }, { "@id": "http://reg.genome.network/allele/PA916026054", "coordinates": [ { "allele": "T", "end": 1978, "referenceAllele": "C", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.1:c.1891C>T" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Gln631Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.1:c.1582C>T" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Gln528Ter", "hgvsWellDefined": "NP_001308944.1:p.Gln528_Asn759delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514687" }, { "coordinates": [ { "allele": "T", "end": 1978, "referenceAllele": "C", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NR_136154.1:n.1978C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS528598" }, { "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "C", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715744.4:c.958C>T" ], "proteinEffect": { "hgvs": "XP_006715807.1:p.Gln320Ter", "hgvsWellDefined": 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} ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_024446800.1:c.1330C>T" ], "proteinEffect": { "hgvs": "XP_024302568.1:p.Gln444Ter", "hgvsWellDefined": "XP_024302568.1:p.Gln444_Asn675delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": 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"http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.2:c.1486C>T" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Gln496Ter", "hgvsWellDefined": "NP_001308933.1:p.Gln496_Asn727delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": 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"http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.2:c.1735C>T" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Gln579Ter", "hgvsWellDefined": "NP_001308935.1:p.Gln579_Asn810delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": 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"http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.2:c.1486C>T" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Gln496Ter", "hgvsWellDefined": "NP_001308938.1:p.Gln496_Asn738delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685617" }, { "@id": "http://reg.genome.network/allele/PA2827127430", "coordinates": [ { "allele": "T", "end": 1625, "referenceAllele": "C", "start": 1624 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.2:c.1330C>T" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Gln444Ter", "hgvsWellDefined": "NP_001308939.1:p.Gln444_Asn675delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685618" }, { "@id": "http://reg.genome.network/allele/PA2827129532", "coordinates": [ { "allele": "T", "end": 1872, "referenceAllele": "C", "start": 1871 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.2:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001308940.1:p.Gln320Ter", "hgvsWellDefined": "NP_001308940.1:p.Gln320_Asn551delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685619" }, { "@id": "http://reg.genome.network/allele/PA2827131443", "coordinates": [ { "allele": "T", "end": 1867, "referenceAllele": "C", "start": 1866 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.2:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001308941.1:p.Gln320Ter", "hgvsWellDefined": "NP_001308941.1:p.Gln320_Asn551delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685620" }, { "@id": "http://reg.genome.network/allele/PA2827133870", "coordinates": [ { "allele": "T", "end": 1748, "referenceAllele": "C", "start": 1747 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.2:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Gln440Ter", "hgvsWellDefined": "NP_001308942.1:p.Gln440_Asn671delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685621" }, { "@id": "http://reg.genome.network/allele/PA916026054", "coordinates": [ { "allele": "T", "end": 1921, "referenceAllele": "C", "start": 1920 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.2:c.1891C>T" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Gln631Ter", "hgvsWellDefined": "NP_001308943.1:p.Gln631_Asn873delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685622" }, { "@id": "http://reg.genome.network/allele/PA2827138660", "coordinates": [ { "allele": "T", "end": 2091, "referenceAllele": "C", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.2:c.1582C>T" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Gln528Ter", "hgvsWellDefined": "NP_001308944.1:p.Gln528_Asn759delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685623" }, { "@id": "http://reg.genome.network/allele/PA2827119109", "coordinates": [ { "allele": "T", "end": 1818, "referenceAllele": "C", "start": 1817 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.2:c.1573C>T" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Gln525Ter", "hgvsWellDefined": "NP_001308936.1:p.Gln525_Asn756delinsLeuHisHisGluAlaGlnGlnSerGluGlyGluGlnAsnTyrArgLysPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718053" } ], "type": "nucleotide" }