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}, "referenceSequence": "http://reg.genome.network/refseq/RS247118" }, { "coordinates": [ { "allele": "T", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000539477.5:c.502C>T" ], "proteinEffect": { "hgvs": "ENSP00000443665.1:p.Gln168Ter", "hgvsWellDefined": "ENSP00000443665.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247348" }, { "@id": "http://reg.genome.network/allele/PA330690", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.3:c.1225C>T", "LRG_216t1:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Gln409Ter", "hgvsWellDefined": "NP_000240.1:p.Gln409_Cys756delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006311" }, { "@id": "http://reg.genome.network/allele/PA2826038453", "coordinates": [ { "allele": "T", "end": 1218, "referenceAllele": "C", "start": 1217 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.1:c.931C>T" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Gln311Ter", "hgvsWellDefined": "NP_001161089.1:p.Gln311_Cys658delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014972" }, { "@id": "http://reg.genome.network/allele/PA2826040295", "coordinates": [ { "allele": "T", "end": 1218, "referenceAllele": "C", "start": 1217 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.1:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Gln168Ter", "hgvsWellDefined": "NP_001161090.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014973" }, { "@id": "http://reg.genome.network/allele/PA2826042137", "coordinates": [ { "allele": "T", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.1:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Gln168Ter", "hgvsWellDefined": "NP_001161091.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014974" }, { "@id": "http://reg.genome.network/allele/PA2826457924", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.1:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Gln409Ter", "hgvsWellDefined": "NP_001245200.1:p.Gln409_Cys687delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019757" }, { "@id": "http://reg.genome.network/allele/PA2826459511", "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "C", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.1:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001245202.1:p.Gln168Ter", "hgvsWellDefined": "NP_001245202.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019759" }, { "@id": "http://reg.genome.network/allele/PA2826461353", "coordinates": [ { "allele": "T", "end": 1368, "referenceAllele": "C", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.1:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Gln168Ter", "hgvsWellDefined": "NP_001245203.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019760" }, { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "C", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.1:c.1018C>T" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Gln340Ter", "hgvsWellDefined": "XP_005265218.1:p.Gln340_Cys687delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064527" }, { "coordinates": [ { "allele": "T", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265163.1:c.502C>T" ], "proteinEffect": { "hgvs": "XP_005265220.1:p.Gln168Ter", "hgvsWellDefined": "XP_005265220.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064528" }, { "coordinates": [ { "allele": "T", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265164.1:c.502C>T" ], "proteinEffect": { "hgvs": "XP_005265221.1:p.Gln168Ter", "hgvsWellDefined": "XP_005265221.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064529" }, { "coordinates": [ { "allele": "T", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265166.1:c.202C>T" ], "proteinEffect": { "hgvs": "XP_005265223.1:p.Gln68Ter", "hgvsWellDefined": "XP_005265223.1:p.Gln68_Cys415delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064530" }, { "coordinates": [ { "allele": "T", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_011533727.1:c.151C>T" ], "proteinEffect": { "hgvs": "XP_011532029.1:p.Gln51Ter", "hgvsWellDefined": "XP_011532029.1:p.Gln51_Cys398delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100748" }, { "@id": "http://reg.genome.network/allele/PA2826038453", "coordinates": [ { "allele": "T", "end": 1645, "referenceAllele": "C", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.2:c.931C>T" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Gln311Ter", "hgvsWellDefined": "NP_001161089.1:p.Gln311_Cys658delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511683" }, { "@id": "http://reg.genome.network/allele/PA2826040295", "coordinates": [ { "allele": "T", "end": 1645, "referenceAllele": "C", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.2:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Gln168Ter", "hgvsWellDefined": "NP_001161090.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511684" }, { "@id": "http://reg.genome.network/allele/PA2826042137", "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.2:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Gln168Ter", "hgvsWellDefined": "NP_001161091.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511685" }, { "@id": "http://reg.genome.network/allele/PA2826461353", "coordinates": [ { "allele": "T", "end": 1795, "referenceAllele": "C", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.2:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Gln168Ter", "hgvsWellDefined": "NP_001245203.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511992" }, { "@id": "http://reg.genome.network/allele/PA2827885516", "coordinates": [ { "allele": "T", "end": 1326, "referenceAllele": "C", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.1:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001341544.1:p.Gln168Ter", "hgvsWellDefined": "NP_001341544.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522556" }, { "@id": "http://reg.genome.network/allele/PA2827887360", "coordinates": [ { "allele": "T", "end": 1326, "referenceAllele": "C", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.1:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001341545.1:p.Gln168Ter", "hgvsWellDefined": "NP_001341545.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522557" }, { "@id": "http://reg.genome.network/allele/PA2827889202", "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "C", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.1:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001341546.1:p.Gln168Ter", "hgvsWellDefined": "NP_001341546.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522558" }, { "@id": "http://reg.genome.network/allele/PA2827891046", "coordinates": [ { "allele": "T", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.1:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001341547.1:p.Gln168Ter", "hgvsWellDefined": "NP_001341547.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522559" }, { "@id": "http://reg.genome.network/allele/PA2827892654", "coordinates": [ { "allele": "T", "end": 1774, "referenceAllele": "C", "start": 1773 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.1:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001341548.1:p.Gln168Ter", "hgvsWellDefined": "NP_001341548.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522560" }, { "@id": "http://reg.genome.network/allele/PA2827894822", "coordinates": [ { "allele": "T", "end": 1413, "referenceAllele": "C", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.1:c.931C>T" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Gln311Ter", "hgvsWellDefined": "NP_001341549.1:p.Gln311_Cys658delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522561" }, { "@id": "http://reg.genome.network/allele/PA2827896288", "coordinates": [ { "allele": "T", "end": 1443, "referenceAllele": "C", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.1:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001341550.1:p.Gln68Ter", "hgvsWellDefined": "NP_001341550.1:p.Gln68_Cys415delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522562" }, { "@id": "http://reg.genome.network/allele/PA2827897758", "coordinates": [ { "allele": "T", "end": 1556, "referenceAllele": "C", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.1:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001341551.1:p.Gln68Ter", "hgvsWellDefined": "NP_001341551.1:p.Gln68_Cys415delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522563" }, { "@id": "http://reg.genome.network/allele/PA916038334", "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "C", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.1:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001341552.1:p.Gln68Ter", "hgvsWellDefined": "NP_001341552.1:p.Gln68_Cys415delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522564" }, { "@id": "http://reg.genome.network/allele/PA2827900452", "coordinates": [ { "allele": "T", "end": 1175, "referenceAllele": "C", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.1:c.151C>T" ], "proteinEffect": { "hgvs": "NP_001341553.1:p.Gln51Ter", "hgvsWellDefined": "NP_001341553.1:p.Gln51_Cys398delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522565" }, { "@id": "http://reg.genome.network/allele/PA2827901862", "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.1:c.151C>T" ], "proteinEffect": { "hgvs": "NP_001341554.1:p.Gln51Ter", "hgvsWellDefined": "NP_001341554.1:p.Gln51_Cys398delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522566" }, { "@id": "http://reg.genome.network/allele/PA2827903273", "coordinates": [ { "allele": "T", "end": 1170, "referenceAllele": "C", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.1:c.151C>T" ], "proteinEffect": { "hgvs": "NP_001341555.1:p.Gln51Ter", "hgvsWellDefined": "NP_001341555.1:p.Gln51_Cys398delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522567" }, { "@id": "http://reg.genome.network/allele/PA2827904626", "coordinates": [ { "allele": "T", "end": 1402, "referenceAllele": "C", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.1:c.151C>T" ], "proteinEffect": { "hgvs": "NP_001341556.1:p.Gln51Ter", "hgvsWellDefined": "NP_001341556.1:p.Gln51_Cys398delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522568" }, { "@id": "http://reg.genome.network/allele/PA2827907440", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.1:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Gln409Ter", "hgvsWellDefined": "NP_001341557.1:p.Gln409_Cys725delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522569" }, { "@id": "http://reg.genome.network/allele/PA2827909744", "coordinates": [ { "allele": "T", "end": 1324, "referenceAllele": "C", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.1:c.1126C>T" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Gln376Ter", "hgvsWellDefined": "NP_001341558.1:p.Gln376_Cys723delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522570" }, { "@id": "http://reg.genome.network/allele/PA2827911960", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.1:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Gln409Ter", "hgvsWellDefined": "NP_001341559.1:p.Gln409_Cys701delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522571" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.2:c.1018C>T" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Gln340Ter", "hgvsWellDefined": "XP_005265218.1:p.Gln340_Cys687delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536007" }, { "coordinates": [ { "allele": "T", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_017006450.2:c.202C>T" ], "proteinEffect": { "hgvs": "XP_016861939.1:p.Gln68Ter", "hgvsWellDefined": "XP_016861939.1:p.Gln68_Cys415delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561484" }, { "@id": "http://reg.genome.network/allele/PA330690", "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.4:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Gln409Ter", "hgvsWellDefined": "NP_000240.1:p.Gln409_Cys756delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.1225C>T" }, "RefSeq": { "hgvs": "NM_000249.4:c.1225C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Gln409Ter" }, "RefSeq": { "hgvs": "NP_000240.1:p.Gln409Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826038453", "coordinates": [ { "allele": "T", "end": 1477, "referenceAllele": "C", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.3:c.931C>T" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Gln311Ter", "hgvsWellDefined": "NP_001161089.1:p.Gln311_Cys658delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713242" }, { "@id": "http://reg.genome.network/allele/PA2826040295", "coordinates": [ { "allele": "T", "end": 1477, "referenceAllele": "C", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.3:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Gln168Ter", "hgvsWellDefined": "NP_001161090.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713243" }, { "@id": "http://reg.genome.network/allele/PA2826042137", "coordinates": [ { "allele": "T", "end": 1390, "referenceAllele": "C", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.3:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Gln168Ter", "hgvsWellDefined": "NP_001161091.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713244" }, { "@id": "http://reg.genome.network/allele/PA2826457924", "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.2:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Gln409Ter", "hgvsWellDefined": "NP_001245200.1:p.Gln409_Cys687delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714924" }, { "@id": "http://reg.genome.network/allele/PA2826459511", "coordinates": [ { "allele": "T", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.2:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001245202.1:p.Gln168Ter", "hgvsWellDefined": "NP_001245202.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714925" }, { "@id": "http://reg.genome.network/allele/PA2826461353", "coordinates": [ { "allele": "T", "end": 1627, "referenceAllele": "C", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.3:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Gln168Ter", "hgvsWellDefined": "NP_001245203.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714926" }, { "@id": "http://reg.genome.network/allele/PA2827885516", "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.2:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001341544.1:p.Gln168Ter", "hgvsWellDefined": "NP_001341544.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720517" }, { "@id": "http://reg.genome.network/allele/PA2827887360", "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.2:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001341545.1:p.Gln168Ter", "hgvsWellDefined": "NP_001341545.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720518" }, { "@id": "http://reg.genome.network/allele/PA2827889202", "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.2:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001341546.1:p.Gln168Ter", "hgvsWellDefined": "NP_001341546.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720519" }, { "@id": "http://reg.genome.network/allele/PA2827891046", "coordinates": [ { "allele": "T", "end": 1482, "referenceAllele": "C", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.2:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001341547.1:p.Gln168Ter", "hgvsWellDefined": "NP_001341547.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720520" }, { "@id": "http://reg.genome.network/allele/PA2827892654", "coordinates": [ { "allele": "T", "end": 1606, "referenceAllele": "C", "start": 1605 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.2:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001341548.1:p.Gln168Ter", "hgvsWellDefined": "NP_001341548.1:p.Gln168_Cys515delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720521" }, { "@id": "http://reg.genome.network/allele/PA2827894822", "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "C", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.2:c.931C>T" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Gln311Ter", "hgvsWellDefined": "NP_001341549.1:p.Gln311_Cys658delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720522" }, { "@id": "http://reg.genome.network/allele/PA2827896288", "coordinates": [ { "allele": "T", "end": 1275, "referenceAllele": "C", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.2:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001341550.1:p.Gln68Ter", "hgvsWellDefined": "NP_001341550.1:p.Gln68_Cys415delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720523" }, { "@id": "http://reg.genome.network/allele/PA2827897758", "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "C", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.2:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001341551.1:p.Gln68Ter", "hgvsWellDefined": "NP_001341551.1:p.Gln68_Cys415delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720524" }, { "@id": "http://reg.genome.network/allele/PA916038334", "coordinates": [ { "allele": "T", "end": 1297, "referenceAllele": "C", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.2:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001341552.1:p.Gln68Ter", "hgvsWellDefined": "NP_001341552.1:p.Gln68_Cys415delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720525" }, { "@id": "http://reg.genome.network/allele/PA2827900452", "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.2:c.151C>T" ], "proteinEffect": { "hgvs": "NP_001341553.1:p.Gln51Ter", "hgvsWellDefined": "NP_001341553.1:p.Gln51_Cys398delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720526" }, { "@id": "http://reg.genome.network/allele/PA2827901862", "coordinates": [ { "allele": "T", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.2:c.151C>T" ], "proteinEffect": { "hgvs": "NP_001341554.1:p.Gln51Ter", "hgvsWellDefined": "NP_001341554.1:p.Gln51_Cys398delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720527" }, { "@id": "http://reg.genome.network/allele/PA2827903273", "coordinates": [ { "allele": "T", "end": 1002, "referenceAllele": "C", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.2:c.151C>T" ], "proteinEffect": { "hgvs": "NP_001341555.1:p.Gln51Ter", "hgvsWellDefined": "NP_001341555.1:p.Gln51_Cys398delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720528" }, { "@id": "http://reg.genome.network/allele/PA2827904626", "coordinates": [ { "allele": "T", "end": 1234, "referenceAllele": "C", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.2:c.151C>T" ], "proteinEffect": { "hgvs": "NP_001341556.1:p.Gln51Ter", "hgvsWellDefined": "NP_001341556.1:p.Gln51_Cys398delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720529" }, { "@id": "http://reg.genome.network/allele/PA2827907440", "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.2:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Gln409Ter", "hgvsWellDefined": "NP_001341557.1:p.Gln409_Cys725delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720530" }, { "@id": "http://reg.genome.network/allele/PA2827909744", "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "C", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.2:c.1126C>T" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Gln376Ter", "hgvsWellDefined": "NP_001341558.1:p.Gln376_Cys723delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720531" }, { "@id": "http://reg.genome.network/allele/PA2827911960", "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.2:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Gln409Ter", "hgvsWellDefined": "NP_001341559.1:p.Gln409_Cys701delinsAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720532" } ], "type": "nucleotide" }