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}, "referenceSequence": "http://reg.genome.network/refseq/RS247118" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000539477.5:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000443665.1:p.Gln166Ter", "hgvsWellDefined": "ENSP00000443665.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247348" }, { "@id": "http://reg.genome.network/allele/PA645418851", "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.3:c.1219C>T", "LRG_216t1:c.1219C>T" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Gln407Ter", "hgvsWellDefined": "NP_000240.1:p.Gln407_Cys756delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006311" }, { "@id": "http://reg.genome.network/allele/PA2826038450", "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.1:c.925C>T" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Gln309Ter", "hgvsWellDefined": "NP_001161089.1:p.Gln309_Cys658delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014972" }, { "@id": "http://reg.genome.network/allele/PA2826040292", "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.1:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Gln166Ter", "hgvsWellDefined": "NP_001161090.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014973" }, { "@id": "http://reg.genome.network/allele/PA2826042134", "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.1:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Gln166Ter", "hgvsWellDefined": "NP_001161091.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014974" }, { "@id": "http://reg.genome.network/allele/PA2826457920", "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.1:c.1219C>T" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Gln407Ter", "hgvsWellDefined": "NP_001245200.1:p.Gln407_Cys687delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019757" }, { "@id": "http://reg.genome.network/allele/PA2826459506", "coordinates": [ { "allele": "T", "end": 1326, "referenceAllele": "C", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.1:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001245202.1:p.Gln166Ter", "hgvsWellDefined": "NP_001245202.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019759" }, { "@id": "http://reg.genome.network/allele/PA2826461349", "coordinates": [ { "allele": "T", "end": 1362, "referenceAllele": "C", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.1:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Gln166Ter", "hgvsWellDefined": "NP_001245203.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019760" }, { "coordinates": [ { "allele": "T", "end": 1100, "referenceAllele": "C", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.1:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Gln338Ter", "hgvsWellDefined": "XP_005265218.1:p.Gln338_Cys687delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064527" }, { "coordinates": [ { "allele": "T", "end": 1217, "referenceAllele": "C", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265163.1:c.496C>T" ], "proteinEffect": { "hgvs": "XP_005265220.1:p.Gln166Ter", "hgvsWellDefined": "XP_005265220.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064528" }, { "coordinates": [ { "allele": "T", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265164.1:c.496C>T" ], "proteinEffect": { "hgvs": "XP_005265221.1:p.Gln166Ter", "hgvsWellDefined": "XP_005265221.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064529" }, { "coordinates": [ { "allele": "T", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265166.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_005265223.1:p.Gln66Ter", "hgvsWellDefined": "XP_005265223.1:p.Gln66_Cys415delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064530" }, { "coordinates": [ { "allele": "T", "end": 977, "referenceAllele": "C", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_011533727.1:c.145C>T" ], "proteinEffect": { "hgvs": "XP_011532029.1:p.Gln49Ter", "hgvsWellDefined": "XP_011532029.1:p.Gln49_Cys398delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100748" }, { "@id": "http://reg.genome.network/allele/PA2826038450", "coordinates": [ { "allele": "T", "end": 1639, "referenceAllele": "C", "start": 1638 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.2:c.925C>T" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Gln309Ter", "hgvsWellDefined": "NP_001161089.1:p.Gln309_Cys658delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511683" }, { "@id": "http://reg.genome.network/allele/PA2826040292", "coordinates": [ { "allele": "T", "end": 1639, "referenceAllele": "C", "start": 1638 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.2:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Gln166Ter", "hgvsWellDefined": "NP_001161090.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511684" }, { "@id": "http://reg.genome.network/allele/PA2826042134", "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.2:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Gln166Ter", "hgvsWellDefined": "NP_001161091.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511685" }, { "@id": "http://reg.genome.network/allele/PA2826461349", "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.2:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Gln166Ter", "hgvsWellDefined": "NP_001245203.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511992" }, { "@id": "http://reg.genome.network/allele/PA2827885512", "coordinates": [ { "allele": "T", "end": 1320, "referenceAllele": "C", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.1:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001341544.1:p.Gln166Ter", "hgvsWellDefined": "NP_001341544.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522556" }, { "@id": "http://reg.genome.network/allele/PA2827887356", "coordinates": [ { "allele": "T", "end": 1320, "referenceAllele": "C", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.1:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001341545.1:p.Gln166Ter", "hgvsWellDefined": "NP_001341545.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522557" }, { "@id": "http://reg.genome.network/allele/PA2827889199", "coordinates": [ { "allele": "T", "end": 1412, "referenceAllele": "C", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.1:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001341546.1:p.Gln166Ter", "hgvsWellDefined": "NP_001341546.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522558" }, { "@id": "http://reg.genome.network/allele/PA2827891041", "coordinates": [ { "allele": "T", "end": 1644, "referenceAllele": "C", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.1:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001341547.1:p.Gln166Ter", "hgvsWellDefined": "NP_001341547.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522559" }, { "@id": "http://reg.genome.network/allele/PA2827892650", "coordinates": [ { "allele": "T", "end": 1768, "referenceAllele": "C", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.1:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001341548.1:p.Gln166Ter", "hgvsWellDefined": "NP_001341548.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522560" }, { "@id": "http://reg.genome.network/allele/PA2827894815", "coordinates": [ { "allele": "T", "end": 1407, "referenceAllele": "C", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.1:c.925C>T" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Gln309Ter", "hgvsWellDefined": "NP_001341549.1:p.Gln309_Cys658delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522561" }, { "@id": "http://reg.genome.network/allele/PA2827896283", "coordinates": [ { "allele": "T", "end": 1437, "referenceAllele": "C", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001341550.1:p.Gln66Ter", "hgvsWellDefined": "NP_001341550.1:p.Gln66_Cys415delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522562" }, { "@id": "http://reg.genome.network/allele/PA2827897752", "coordinates": [ { "allele": "T", "end": 1550, "referenceAllele": "C", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001341551.1:p.Gln66Ter", "hgvsWellDefined": "NP_001341551.1:p.Gln66_Cys415delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522563" }, { "@id": "http://reg.genome.network/allele/PA916038328", "coordinates": [ { "allele": "T", "end": 1459, "referenceAllele": "C", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001341552.1:p.Gln66Ter", "hgvsWellDefined": "NP_001341552.1:p.Gln66_Cys415delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522564" }, { "@id": "http://reg.genome.network/allele/PA2827900447", "coordinates": [ { "allele": "T", "end": 1169, "referenceAllele": "C", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.1:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001341553.1:p.Gln49Ter", "hgvsWellDefined": "NP_001341553.1:p.Gln49_Cys398delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522565" }, { "@id": "http://reg.genome.network/allele/PA2827901859", "coordinates": [ { "allele": "T", "end": 1067, "referenceAllele": "C", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.1:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001341554.1:p.Gln49Ter", "hgvsWellDefined": "NP_001341554.1:p.Gln49_Cys398delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522566" }, { "@id": "http://reg.genome.network/allele/PA2827903270", "coordinates": [ { "allele": "T", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.1:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001341555.1:p.Gln49Ter", "hgvsWellDefined": "NP_001341555.1:p.Gln49_Cys398delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522567" }, { "@id": "http://reg.genome.network/allele/PA2827904622", "coordinates": [ { "allele": "T", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.1:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001341556.1:p.Gln49Ter", "hgvsWellDefined": "NP_001341556.1:p.Gln49_Cys398delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522568" }, { "@id": "http://reg.genome.network/allele/PA2827907434", "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.1:c.1219C>T" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Gln407Ter", "hgvsWellDefined": "NP_001341557.1:p.Gln407_Cys725delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522569" }, { "@id": "http://reg.genome.network/allele/PA2827909739", "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "C", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.1:c.1120C>T" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Gln374Ter", "hgvsWellDefined": "NP_001341558.1:p.Gln374_Cys723delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522570" }, { "@id": "http://reg.genome.network/allele/PA2827911955", "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.1:c.1219C>T" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Gln407Ter", "hgvsWellDefined": "NP_001341559.1:p.Gln407_Cys701delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522571" }, { "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.2:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Gln338Ter", "hgvsWellDefined": "XP_005265218.1:p.Gln338_Cys687delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536007" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_017006450.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_016861939.1:p.Gln66Ter", "hgvsWellDefined": "XP_016861939.1:p.Gln66_Cys415delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561484" }, { "@id": "http://reg.genome.network/allele/PA645418851", "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.4:c.1219C>T" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Gln407Ter", "hgvsWellDefined": "NP_000240.1:p.Gln407_Cys756delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.1219C>T" }, "RefSeq": { "hgvs": "NM_000249.4:c.1219C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Gln407Ter" }, "RefSeq": { "hgvs": "NP_000240.1:p.Gln407Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826038450", "coordinates": [ { "allele": "T", "end": 1471, "referenceAllele": "C", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.3:c.925C>T" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Gln309Ter", "hgvsWellDefined": "NP_001161089.1:p.Gln309_Cys658delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713242" }, { "@id": "http://reg.genome.network/allele/PA2826040292", "coordinates": [ { "allele": "T", "end": 1471, "referenceAllele": "C", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.3:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Gln166Ter", "hgvsWellDefined": "NP_001161090.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713243" }, { "@id": "http://reg.genome.network/allele/PA2826042134", "coordinates": [ { "allele": "T", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.3:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Gln166Ter", "hgvsWellDefined": "NP_001161091.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713244" }, { "@id": "http://reg.genome.network/allele/PA2826457920", "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.2:c.1219C>T" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Gln407Ter", "hgvsWellDefined": "NP_001245200.1:p.Gln407_Cys687delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714924" }, { "@id": "http://reg.genome.network/allele/PA2826459506", "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.2:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001245202.1:p.Gln166Ter", "hgvsWellDefined": "NP_001245202.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714925" }, { "@id": "http://reg.genome.network/allele/PA2826461349", "coordinates": [ { "allele": "T", "end": 1621, "referenceAllele": "C", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.3:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Gln166Ter", "hgvsWellDefined": "NP_001245203.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714926" }, { "@id": "http://reg.genome.network/allele/PA2827885512", "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.2:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001341544.1:p.Gln166Ter", "hgvsWellDefined": "NP_001341544.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720517" }, { "@id": "http://reg.genome.network/allele/PA2827887356", "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.2:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001341545.1:p.Gln166Ter", "hgvsWellDefined": "NP_001341545.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720518" }, { "@id": "http://reg.genome.network/allele/PA2827889199", "coordinates": [ { "allele": "T", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.2:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001341546.1:p.Gln166Ter", "hgvsWellDefined": "NP_001341546.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720519" }, { "@id": "http://reg.genome.network/allele/PA2827891041", "coordinates": [ { "allele": "T", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.2:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001341547.1:p.Gln166Ter", "hgvsWellDefined": "NP_001341547.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720520" }, { "@id": "http://reg.genome.network/allele/PA2827892650", "coordinates": [ { "allele": "T", "end": 1600, "referenceAllele": "C", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.2:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001341548.1:p.Gln166Ter", "hgvsWellDefined": "NP_001341548.1:p.Gln166_Cys515delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720521" }, { "@id": "http://reg.genome.network/allele/PA2827894815", "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.2:c.925C>T" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Gln309Ter", "hgvsWellDefined": "NP_001341549.1:p.Gln309_Cys658delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720522" }, { "@id": "http://reg.genome.network/allele/PA2827896283", "coordinates": [ { "allele": "T", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.2:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001341550.1:p.Gln66Ter", "hgvsWellDefined": "NP_001341550.1:p.Gln66_Cys415delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720523" }, { "@id": "http://reg.genome.network/allele/PA2827897752", "coordinates": [ { "allele": "T", "end": 1382, "referenceAllele": "C", "start": 1381 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.2:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001341551.1:p.Gln66Ter", "hgvsWellDefined": "NP_001341551.1:p.Gln66_Cys415delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720524" }, { "@id": "http://reg.genome.network/allele/PA916038328", "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "C", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.2:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001341552.1:p.Gln66Ter", "hgvsWellDefined": "NP_001341552.1:p.Gln66_Cys415delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720525" }, { "@id": "http://reg.genome.network/allele/PA2827900447", "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.2:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001341553.1:p.Gln49Ter", "hgvsWellDefined": "NP_001341553.1:p.Gln49_Cys398delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720526" }, { "@id": "http://reg.genome.network/allele/PA2827901859", "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.2:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001341554.1:p.Gln49Ter", "hgvsWellDefined": "NP_001341554.1:p.Gln49_Cys398delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720527" }, { "@id": "http://reg.genome.network/allele/PA2827903270", "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "C", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.2:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001341555.1:p.Gln49Ter", "hgvsWellDefined": "NP_001341555.1:p.Gln49_Cys398delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720528" }, { "@id": "http://reg.genome.network/allele/PA2827904622", "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "C", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.2:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001341556.1:p.Gln49Ter", "hgvsWellDefined": "NP_001341556.1:p.Gln49_Cys398delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720529" }, { "@id": "http://reg.genome.network/allele/PA2827907434", "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.2:c.1219C>T" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Gln407Ter", "hgvsWellDefined": "NP_001341557.1:p.Gln407_Cys725delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720530" }, { "@id": "http://reg.genome.network/allele/PA2827909739", "coordinates": [ { "allele": "T", "end": 1150, "referenceAllele": "C", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.2:c.1120C>T" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Gln374Ter", "hgvsWellDefined": "NP_001341558.1:p.Gln374_Cys723delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720531" }, { "@id": "http://reg.genome.network/allele/PA2827911955", "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.2:c.1219C>T" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Gln407Ter", "hgvsWellDefined": "NP_001341559.1:p.Gln407_Cys701delinsProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720532" } ], "type": "nucleotide" }