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"NP_001341535.1:p.Arg359_Cys519delinsGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522550" }, { "@id": "http://reg.genome.network/allele/PA2827882403", "coordinates": [ { "allele": "T", "end": 1370, "referenceAllele": "C", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.1:c.1027C>T" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Arg343Ter", "hgvsWellDefined": 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"NP_001341537.1:p.Arg308_Cys468delinsGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522552" }, { "@id": "http://reg.genome.network/allele/PA2826151435", "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184967.2:c.922C>T" ], "proteinEffect": { "hgvs": "NP_001171896.1:p.Arg308Ter", "hgvsWellDefined": 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1227, "referenceAllele": "C", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354605.2:c.1093C>T" ], "proteinEffect": { "hgvs": "NP_001341534.1:p.Arg365Ter", "hgvsWellDefined": "NP_001341534.1:p.Arg365_Cys525delinsGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690249" }, { "@id": "http://reg.genome.network/allele/PA2827882035", "coordinates": [ { "allele": "T", "end": 1209, "referenceAllele": "C", "start": 1208 } ], 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"http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.2:c.1027C>T" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Arg343Ter", "hgvsWellDefined": "NP_001341536.1:p.Arg343_Cys503delinsGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690251" }, { "@id": "http://reg.genome.network/allele/PA2827882749", "coordinates": [ { "allele": "T", "end": 1251, "referenceAllele": "C", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354608.2:c.922C>T" ], "proteinEffect": { "hgvs": "NP_001341537.1:p.Arg308Ter", "hgvsWellDefined": "NP_001341537.1:p.Arg308_Cys468delinsGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690252" }, { "@id": "http://reg.genome.network/allele/PA2830431361", "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198158.3:c.757C>T" ], "proteinEffect": { "hgvs": "NP_937801.1:p.Arg253Ter", "hgvsWellDefined": "NP_937801.1:p.Arg253_Cys413delinsGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701263" }, { "@id": "http://reg.genome.network/allele/PA2830431938", "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198159.3:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_937802.1:p.Arg360Ter", "hgvsWellDefined": "NP_937802.1:p.Arg360_Cys520delinsGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701264" }, { "@id": "http://reg.genome.network/allele/PA2830432966", "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198177.3:c.1030C>T" ], "proteinEffect": { "hgvs": "NP_937820.1:p.Arg344Ter", "hgvsWellDefined": "NP_937820.1:p.Arg344_Cys504delinsGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701267" }, { "@id": "http://reg.genome.network/allele/PA2830433500", "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198178.3:c.589C>T" ], "proteinEffect": { "hgvs": "NP_937821.2:p.Arg197Ter", "hgvsWellDefined": "NP_937821.2:p.Arg197_Cys357delinsGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701268" }, { "@id": "http://reg.genome.network/allele/PA2825105609", "coordinates": [ { "allele": "T", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_000248.4:c.775C>T" ], "proteinEffect": { "hgvs": "NP_000239.1:p.Arg259Ter", "hgvsWellDefined": "NP_000239.1:p.Arg259_Cys419delinsGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710814", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394351.9:c.775C>T" }, "RefSeq": { "hgvs": "NM_000248.4:c.775C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377880.3:p.Arg259Ter" }, "RefSeq": { "hgvs": "NP_000239.1:p.Arg259Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829651306", "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "C", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_006722.3:c.1075C>T" ], "proteinEffect": { "hgvs": "NP_006713.1:p.Arg359Ter", "hgvsWellDefined": "NP_006713.1:p.Arg359_Cys519delinsGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727772" } ], "type": "nucleotide" }