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"NP_569828.2:p.Leu1269_Ser1545delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040381" }, { "@id": "http://reg.genome.network/allele/PA2830169217", 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"coordinates": [ { "allele": "A", "end": 3994, "referenceAllele": "T", "start": 3993 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_130474.2:c.3803T>A" ], "proteinEffect": { "hgvs": "NP_569830.2:p.Leu1268Ter", "hgvsWellDefined": "NP_569830.2:p.Leu1269_Trp1479delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040383" }, { "@id": "http://reg.genome.network/allele/PA2830169560", "coordinates": [ { "allele": "A", "end": 4324, "referenceAllele": "T", "start": 4323 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_130475.2:c.4109T>A" ], "proteinEffect": { "hgvs": "NP_569831.1:p.Leu1370Ter", "hgvsWellDefined": "NP_569831.1:p.Leu1371_Trp1581delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040384" }, { "@id": "http://reg.genome.network/allele/PA2830169661", "coordinates": [ { "allele": "A", "end": 4144, "referenceAllele": "T", "start": 4143 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ 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"http://reg.genome.network/refseq/RS040385" }, { "coordinates": [ { "allele": "A", "end": 4321, "referenceAllele": "T", "start": 4320 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "XM_005253188.1:c.4106T>A" ], "proteinEffect": { "hgvs": "XP_005253245.1:p.Leu1369Ter", "hgvsWellDefined": 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"referenceAllele": "T", "start": 4263 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "XM_024448751.1:c.4049T>A" ], "proteinEffect": { "hgvs": "XP_024304519.1:p.Leu1350Ter", "hgvsWellDefined": "XP_024304519.1:p.Leu1351_Trp1561delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582319" }, { "coordinates": [ { "allele": "A", "end": 4239, "referenceAllele": "T", "start": 4238 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "XM_024448752.1:c.4046T>A" ], "proteinEffect": { "hgvs": "XP_024304520.1:p.Leu1349Ter", "hgvsWellDefined": "XP_024304520.1:p.Leu1350_Trp1560delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582320" }, { "coordinates": [ { "allele": "A", "end": 4173, "referenceAllele": "T", "start": 4172 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "XM_024448753.1:c.3980T>A" ], "proteinEffect": { "hgvs": "XP_024304521.1:p.Leu1327Ter", "hgvsWellDefined": "XP_024304521.1:p.Leu1328_Trp1538delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582321" }, { "coordinates": [ { "allele": "A", "end": 4164, "referenceAllele": "T", "start": 4163 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "XM_024448754.1:c.3980T>A" ], "proteinEffect": { "hgvs": "XP_024304522.1:p.Leu1327Ter", "hgvsWellDefined": "XP_024304522.1:p.Leu1328_Trp1538delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582322" }, { "coordinates": [ { "allele": "A", "end": 4170, "referenceAllele": "T", "start": 4169 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "XM_024448755.1:c.3977T>A" ], "proteinEffect": { "hgvs": "XP_024304523.1:p.Leu1326Ter", "hgvsWellDefined": "XP_024304523.1:p.Leu1327_Trp1537delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582323" }, { "@id": "http://reg.genome.network/allele/PA2825805028", "coordinates": [ { "allele": "A", "end": 4002, "referenceAllele": "T", "start": 4001 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001135943.2:c.3800T>A" ], "proteinEffect": { "hgvs": "NP_001129415.1:p.Leu1267Ter", "hgvsWellDefined": "NP_001129415.1:p.Leu1268_Ser1544delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677367" }, { "@id": "http://reg.genome.network/allele/PA2825805329", "coordinates": [ { "allele": "A", "end": 3967, "referenceAllele": "T", "start": 3966 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001135944.2:c.3791T>A" ], "proteinEffect": { "hgvs": "NP_001129416.1:p.Leu1264Ter", "hgvsWellDefined": "NP_001129416.1:p.Leu1265_Ser1541delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677368" }, { "@id": "http://reg.genome.network/allele/PA2828662280", "coordinates": [ { "allele": "A", "end": 4311, "referenceAllele": "T", "start": 4310 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376571.1:c.4109T>A" ], "proteinEffect": { "hgvs": "NP_001363500.1:p.Leu1370Ter", "hgvsWellDefined": "NP_001363500.1:p.Leu1371_Ser1650delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnGluArgLysValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694569", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000706887.1:c.4109T>A" }, "RefSeq": { "hgvs": "NM_001376571.1:c.4109T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000516604.1:p.Leu1370Ter" }, "RefSeq": { "hgvs": "NP_001363500.1:p.Leu1370Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828662462", "coordinates": [ { "allele": "A", "end": 4299, "referenceAllele": "T", "start": 4298 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376572.1:c.4097T>A" ], "proteinEffect": { "hgvs": "NP_001363501.1:p.Leu1366Ter", "hgvsWellDefined": "NP_001363501.1:p.Leu1367_Ser1646delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnGluArgLysValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694570" }, { "@id": "http://reg.genome.network/allele/PA2828662647", "coordinates": [ { "allele": "A", "end": 4299, "referenceAllele": "T", "start": 4298 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376573.1:c.4097T>A" ], "proteinEffect": { "hgvs": "NP_001363502.1:p.Leu1366Ter", "hgvsWellDefined": "NP_001363502.1:p.Leu1367_Ser1643delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694571" }, { "@id": "http://reg.genome.network/allele/PA2828662831", "coordinates": [ { "allele": "A", "end": 4231, "referenceAllele": "T", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376574.1:c.4055T>A" ], "proteinEffect": { "hgvs": "NP_001363503.1:p.Leu1352Ter", "hgvsWellDefined": "NP_001363503.1:p.Leu1353_Ser1632delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnGluArgLysValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694572" }, { "@id": "http://reg.genome.network/allele/PA2828663013", "coordinates": [ { "allele": "A", "end": 4251, "referenceAllele": "T", "start": 4250 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376575.1:c.4049T>A" ], "proteinEffect": { "hgvs": "NP_001363504.1:p.Leu1350Ter", "hgvsWellDefined": "NP_001363504.1:p.Leu1351_Ser1630delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnGluArgLysValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694573" }, { "@id": "http://reg.genome.network/allele/PA2828663195", "coordinates": [ { "allele": "A", "end": 4369, "referenceAllele": "T", "start": 4368 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376576.1:c.4037T>A" ], "proteinEffect": { "hgvs": "NP_001363505.1:p.Leu1346Ter", "hgvsWellDefined": "NP_001363505.1:p.Leu1347_Ser1626delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnGluArgLysValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694574" }, { "@id": 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"http://reg.genome.network/allele/PA2828664633", "coordinates": [ { "allele": "A", "end": 4134, "referenceAllele": "T", "start": 4133 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376584.1:c.3932T>A" ], "proteinEffect": { "hgvs": "NP_001363513.1:p.Leu1311Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2828664981", "coordinates": [ { "allele": "A", "end": 4116, "referenceAllele": "T", "start": 4115 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376586.1:c.3914T>A" ], "proteinEffect": { "hgvs": "NP_001363515.1:p.Leu1305Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2828665397", "coordinates": [ { "allele": "A", "end": 4122, "referenceAllele": "T", "start": 4121 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376593.1:c.3920T>A" ], "proteinEffect": { "hgvs": "NP_001363522.1:p.Leu1307Ter", "hgvsWellDefined": 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"NP_001363523.1:p.Leu1308_Ser1584delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694591" }, { "@id": "http://reg.genome.network/allele/PA2828665751", "coordinates": [ { "allele": "A", "end": 4266, "referenceAllele": "T", "start": 4265 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376595.1:c.3908T>A" ], "proteinEffect": { "hgvs": "NP_001363524.1:p.Leu1303Ter", "hgvsWellDefined": "NP_001363524.1:p.Leu1304_Ser1583delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnGluArgLysValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694592" }, { "@id": "http://reg.genome.network/allele/PA2580238729", "coordinates": [ { "allele": "A", "end": 4291, "referenceAllele": "T", "start": 4290 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376596.1:c.4115T>A" ], "proteinEffect": { "hgvs": "NP_001363525.1:p.Leu1372Ter", "hgvsWellDefined": "NP_001363525.1:p.Leu1373_Trp1583delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694593" }, { "@id": "http://reg.genome.network/allele/PA2828666076", "coordinates": [ { "allele": "A", "end": 4110, "referenceAllele": "T", "start": 4109 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376597.1:c.3908T>A" ], "proteinEffect": { "hgvs": "NP_001363526.1:p.Leu1303Ter", "hgvsWellDefined": "NP_001363526.1:p.Leu1304_Ser1583delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnGluArgLysValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694594" }, { "@id": "http://reg.genome.network/allele/PA2828666249", "coordinates": [ { "allele": "A", "end": 4110, "referenceAllele": "T", "start": 4109 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376598.1:c.3908T>A" ], "proteinEffect": { "hgvs": "NP_001363527.1:p.Leu1303Ter", "hgvsWellDefined": "NP_001363527.1:p.Leu1304_Ser1580delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694595" }, { "@id": "http://reg.genome.network/allele/PA2828666434", "coordinates": [ { "allele": "A", "end": 4299, "referenceAllele": "T", "start": 4298 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376599.1:c.4097T>A" ], "proteinEffect": { "hgvs": "NP_001363528.1:p.Leu1366Ter", "hgvsWellDefined": "NP_001363528.1:p.Leu1367_Trp1577delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694596" }, { "@id": "http://reg.genome.network/allele/PA2828666611", "coordinates": [ { "allele": "A", "end": 4273, "referenceAllele": "T", "start": 4272 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376600.1:c.4097T>A" ], "proteinEffect": { "hgvs": "NP_001363529.1:p.Leu1366Ter", "hgvsWellDefined": "NP_001363529.1:p.Leu1367_Trp1577delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694597" }, { "@id": "http://reg.genome.network/allele/PA2828666788", "coordinates": [ { "allele": "A", "end": 4291, "referenceAllele": "T", "start": 4290 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376601.1:c.4097T>A" ], "proteinEffect": { "hgvs": "NP_001363530.1:p.Leu1366Ter", "hgvsWellDefined": "NP_001363530.1:p.Leu1367_Trp1577delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694598" }, { "@id": "http://reg.genome.network/allele/PA2828666953", "coordinates": [ { "allele": "A", "end": 4092, "referenceAllele": "T", "start": 4091 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376602.1:c.3890T>A" ], "proteinEffect": { "hgvs": "NP_001363531.1:p.Leu1297Ter", "hgvsWellDefined": "NP_001363531.1:p.Leu1298_Ser1574delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694599" }, { "@id": "http://reg.genome.network/allele/PA2828667125", "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "T", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376603.1:c.3866T>A" ], "proteinEffect": { "hgvs": "NP_001363532.1:p.Leu1289Ter", "hgvsWellDefined": "NP_001363532.1:p.Leu1290_Ser1569delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnGluArgLysValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694600" }, { "@id": "http://reg.genome.network/allele/PA2828667297", "coordinates": [ { "allele": "A", "end": 4056, "referenceAllele": "T", "start": 4055 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376604.1:c.3854T>A" ], "proteinEffect": { "hgvs": "NP_001363533.1:p.Leu1285Ter", "hgvsWellDefined": "NP_001363533.1:p.Leu1286_Ser1565delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnGluArgLysValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694601" }, { "@id": "http://reg.genome.network/allele/PA2828667488", "coordinates": [ { "allele": "A", "end": 4257, "referenceAllele": "T", "start": 4256 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376605.1:c.4055T>A" ], "proteinEffect": { "hgvs": "NP_001363534.1:p.Leu1352Ter", "hgvsWellDefined": "NP_001363534.1:p.Leu1353_Trp1563delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694602" }, { "@id": "http://reg.genome.network/allele/PA2828667658", "coordinates": [ { "allele": "A", "end": 4254, "referenceAllele": "T", "start": 4253 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376606.1:c.4052T>A" ], "proteinEffect": { "hgvs": "NP_001363535.1:p.Leu1351Ter", "hgvsWellDefined": "NP_001363535.1:p.Leu1352_Trp1562delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694603" }, { "@id": "http://reg.genome.network/allele/PA2828667825", "coordinates": [ { "allele": "A", "end": 4053, "referenceAllele": "T", "start": 4052 } ], 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"NP_001363536.1:p.Leu1285_Ser1561delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694604" }, { "@id": "http://reg.genome.network/allele/PA2828668007", 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"http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376618.1:c.3791T>A" ], "proteinEffect": { "hgvs": "NP_001363547.1:p.Leu1264Ter", "hgvsWellDefined": 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"NP_001363548.1:p.Leu1265_Ser1541delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694616" }, { "@id": "http://reg.genome.network/allele/PA2828670098", "coordinates": [ { "allele": "A", "end": 4021, "referenceAllele": "T", "start": 4020 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376620.1:c.3791T>A" ], "proteinEffect": { "hgvs": "NP_001363549.1:p.Leu1264Ter", "hgvsWellDefined": "NP_001363549.1:p.Leu1265_Ser1541delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694617" }, { "@id": "http://reg.genome.network/allele/PA2828670270", "coordinates": [ { "allele": "A", "end": 4091, "referenceAllele": "T", "start": 4090 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376621.1:c.3791T>A" ], "proteinEffect": { "hgvs": "NP_001363550.1:p.Leu1264Ter", "hgvsWellDefined": "NP_001363550.1:p.Leu1265_Ser1541delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694618" }, { "@id": "http://reg.genome.network/allele/PA2828670451", "coordinates": [ { "allele": "A", "end": 4159, "referenceAllele": "T", "start": 4158 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376622.1:c.3983T>A" ], "proteinEffect": { "hgvs": "NP_001363551.1:p.Leu1328Ter", "hgvsWellDefined": "NP_001363551.1:p.Leu1329_Trp1539delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694619" }, { "@id": "http://reg.genome.network/allele/PA2828670624", "coordinates": [ { "allele": "A", "end": 4185, "referenceAllele": "T", "start": 4184 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376623.1:c.3983T>A" ], "proteinEffect": { "hgvs": "NP_001363552.1:p.Leu1328Ter", "hgvsWellDefined": "NP_001363552.1:p.Leu1329_Trp1539delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694620" }, { "@id": "http://reg.genome.network/allele/PA2828670792", "coordinates": [ { "allele": "A", "end": 4182, "referenceAllele": "T", "start": 4181 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376624.1:c.3980T>A" ], "proteinEffect": { "hgvs": "NP_001363553.1:p.Leu1327Ter", "hgvsWellDefined": "NP_001363553.1:p.Leu1328_Trp1538delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694621" }, { "@id": "http://reg.genome.network/allele/PA2828670960", "coordinates": [ { "allele": "A", "end": 4312, "referenceAllele": "T", "start": 4311 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376625.1:c.3980T>A" ], "proteinEffect": { "hgvs": "NP_001363554.1:p.Leu1327Ter", "hgvsWellDefined": "NP_001363554.1:p.Leu1328_Trp1538delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694622" }, { "@id": "http://reg.genome.network/allele/PA2828671130", "coordinates": [ { "allele": "A", "end": 4149, "referenceAllele": "T", "start": 4148 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376626.1:c.3893T>A" ], "proteinEffect": { "hgvs": "NP_001363555.1:p.Leu1298Ter", "hgvsWellDefined": "NP_001363555.1:p.Leu1299_Ser1538delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694623" }, { "@id": "http://reg.genome.network/allele/PA2828671294", "coordinates": [ { "allele": "A", "end": 4020, "referenceAllele": "T", "start": 4019 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376627.1:c.3764T>A" ], "proteinEffect": { "hgvs": "NP_001363556.1:p.Leu1255Ter", "hgvsWellDefined": "NP_001363556.1:p.Leu1256_Ser1535delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnGluArgLysValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694624" }, { "@id": "http://reg.genome.network/allele/PA2828671470", "coordinates": [ { "allele": "A", "end": 4179, "referenceAllele": "T", "start": 4178 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376628.1:c.3977T>A" ], "proteinEffect": { "hgvs": "NP_001363557.1:p.Leu1326Ter", "hgvsWellDefined": "NP_001363557.1:p.Leu1327_Trp1537delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694625" }, { "@id": "http://reg.genome.network/allele/PA2828671638", "coordinates": [ { "allele": "A", "end": 4170, "referenceAllele": "T", "start": 4169 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376629.1:c.3968T>A" ], "proteinEffect": { "hgvs": "NP_001363558.1:p.Leu1323Ter", "hgvsWellDefined": "NP_001363558.1:p.Leu1324_Trp1534delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694626" }, { "@id": "http://reg.genome.network/allele/PA2828671806", "coordinates": [ { "allele": "A", "end": 4300, "referenceAllele": "T", "start": 4299 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376630.1:c.3968T>A" ], "proteinEffect": { "hgvs": "NP_001363559.1:p.Leu1323Ter", "hgvsWellDefined": "NP_001363559.1:p.Leu1324_Trp1534delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694627" }, { "@id": "http://reg.genome.network/allele/PA2828671977", "coordinates": [ { "allele": "A", "end": 4288, "referenceAllele": "T", "start": 4287 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376631.1:c.3956T>A" ], "proteinEffect": { "hgvs": "NP_001363560.1:p.Leu1319Ter", "hgvsWellDefined": "NP_001363560.1:p.Leu1320_Trp1530delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694628" }, { "@id": "http://reg.genome.network/allele/PA2828672145", "coordinates": [ { "allele": "A", "end": 4143, "referenceAllele": "T", "start": 4142 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376632.1:c.3941T>A" ], "proteinEffect": { "hgvs": "NP_001363561.1:p.Leu1314Ter", "hgvsWellDefined": "NP_001363561.1:p.Leu1315_Trp1525delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694629" }, { "@id": "http://reg.genome.network/allele/PA2828672321", "coordinates": [ { "allele": "A", "end": 4254, "referenceAllele": "T", "start": 4253 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376633.1:c.4052T>A" ], "proteinEffect": { "hgvs": "NP_001363562.1:p.Leu1351Ter", "hgvsWellDefined": "NP_001363562.1:p.Leu1352_Trp1525delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694630" }, { "@id": "http://reg.genome.network/allele/PA2828672492", "coordinates": [ { "allele": "A", "end": 4219, "referenceAllele": "T", "start": 4218 } ], "gene": 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"http://reg.genome.network/allele/PA2828672822", "coordinates": [ { "allele": "A", "end": 4258, "referenceAllele": "T", "start": 4257 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376636.1:c.3926T>A" ], "proteinEffect": { "hgvs": "NP_001363565.1:p.Leu1309Ter", "hgvsWellDefined": 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"NP_001363575.1:p.Leu1238_Ser1514delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694643" }, { "@id": "http://reg.genome.network/allele/PA2828674644", "coordinates": [ { "allele": "A", "end": 3960, "referenceAllele": "T", "start": 3959 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376647.1:c.3704T>A" ], "proteinEffect": { "hgvs": "NP_001363576.1:p.Leu1235Ter", "hgvsWellDefined": "NP_001363576.1:p.Leu1236_Ser1512delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694644" }, { "@id": "http://reg.genome.network/allele/PA2828674822", "coordinates": [ { "allele": "A", "end": 4279, "referenceAllele": "T", "start": 4278 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376648.1:c.3893T>A" ], "proteinEffect": { "hgvs": "NP_001363577.1:p.Leu1298Ter", "hgvsWellDefined": "NP_001363577.1:p.Leu1299_Trp1509delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694645" }, { "@id": "http://reg.genome.network/allele/PA2828674987", "coordinates": [ { "allele": "A", "end": 4095, "referenceAllele": "T", "start": 4094 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376649.1:c.3893T>A" ], "proteinEffect": { "hgvs": "NP_001363578.1:p.Leu1298Ter", "hgvsWellDefined": "NP_001363578.1:p.Leu1299_Trp1509delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694646" }, { "@id": "http://reg.genome.network/allele/PA2828675148", "coordinates": [ { "allele": "A", "end": 3891, "referenceAllele": "T", "start": 3890 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376650.1:c.3689T>A" ], "proteinEffect": { "hgvs": "NP_001363579.1:p.Leu1230Ter", "hgvsWellDefined": "NP_001363579.1:p.Leu1231_Ser1507delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694647" }, { "@id": "http://reg.genome.network/allele/PA2828675320", "coordinates": [ { "allele": "A", "end": 4050, "referenceAllele": "T", "start": 4049 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376651.1:c.3866T>A" ], "proteinEffect": { "hgvs": "NP_001363580.1:p.Leu1289Ter", "hgvsWellDefined": "NP_001363580.1:p.Leu1290_Trp1500delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694648" }, { "@id": "http://reg.genome.network/allele/PA2828675484", "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "T", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376652.1:c.3866T>A" ], "proteinEffect": { "hgvs": "NP_001363581.1:p.Leu1289Ter", "hgvsWellDefined": "NP_001363581.1:p.Leu1290_Trp1500delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694649" }, { "@id": "http://reg.genome.network/allele/PA2828675648", "coordinates": [ { "allele": "A", "end": 4065, "referenceAllele": "T", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376653.1:c.3863T>A" ], "proteinEffect": { "hgvs": "NP_001363582.1:p.Leu1288Ter", "hgvsWellDefined": "NP_001363582.1:p.Leu1289_Trp1499delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694650" }, { "@id": "http://reg.genome.network/allele/PA2828675808", "coordinates": [ { "allele": "A", "end": 3915, "referenceAllele": "T", "start": 3914 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376654.1:c.3659T>A" ], "proteinEffect": { "hgvs": "NP_001363583.1:p.Leu1220Ter", "hgvsWellDefined": "NP_001363583.1:p.Leu1221_Ser1497delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnValPheIleGluLeuAsnHisIleLysLysCysAsnThrValArgGlyValPheValLeuGluGluPheValProGluIleLysGluValValSerHisLysTyrLysThrProMetAlaHisGluIleCysTyrSerValLeuCysLeuPheSerTyrValAlaAlaValHisSerSerGluGluAspLeuArgThrProProArgProValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694651" }, { "@id": "http://reg.genome.network/allele/PA2828675983", "coordinates": [ { "allele": "A", "end": 4056, "referenceAllele": "T", "start": 4055 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376655.1:c.3854T>A" ], "proteinEffect": { "hgvs": "NP_001363584.1:p.Leu1285Ter", "hgvsWellDefined": "NP_001363584.1:p.Leu1286_Trp1496delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694652" }, { "@id": "http://reg.genome.network/allele/PA2828676147", "coordinates": [ { "allele": "A", "end": 4056, "referenceAllele": "T", "start": 4055 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376656.1:c.3854T>A" ], "proteinEffect": { "hgvs": "NP_001363585.1:p.Leu1285Ter", "hgvsWellDefined": "NP_001363585.1:p.Leu1286_Trp1496delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694653" }, { "@id": "http://reg.genome.network/allele/PA2828676313", "coordinates": [ { "allele": "A", "end": 4089, "referenceAllele": "T", "start": 4088 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376657.1:c.3833T>A" ], "proteinEffect": { "hgvs": "NP_001363586.1:p.Leu1278Ter", "hgvsWellDefined": "NP_001363586.1:p.Leu1279_Trp1489delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694654" }, { "@id": "http://reg.genome.network/allele/PA2828676474", "coordinates": [ { "allele": "A", "end": 4008, "referenceAllele": "T", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376658.1:c.3806T>A" ], "proteinEffect": { "hgvs": "NP_001363587.1:p.Leu1269Ter", "hgvsWellDefined": "NP_001363587.1:p.Leu1270_Trp1480delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694655" }, { "@id": "http://reg.genome.network/allele/PA2828676633", "coordinates": [ { "allele": "A", "end": 4020, "referenceAllele": "T", "start": 4019 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376659.1:c.3764T>A" ], "proteinEffect": { "hgvs": "NP_001363588.1:p.Leu1255Ter", "hgvsWellDefined": "NP_001363588.1:p.Leu1256_Trp1466delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694656" }, { "@id": "http://reg.genome.network/allele/PA2828676783", "coordinates": [ { "allele": "A", "end": 3960, "referenceAllele": "T", "start": 3959 } ], "gene": "http://reg.genome.network/gene/GN006766", "geneNCBI_id": 8567, "geneSymbol": "MADD", "hgvs": [ "NM_001376660.1:c.3704T>A" ], "proteinEffect": { "hgvs": "NP_001363589.1:p.Leu1235Ter", "hgvsWellDefined": "NP_001363589.1:p.Leu1236_Trp1446delinsAlaThrLeuLeuHisAsnLeuIleSerTyrMetLeuLeuMetLysValAsnLysAsnAspIleArgLysLysValArgArgLeuMetGlyLysSerHisIleGlyLeuValTyrSerGlnGlnIleAsnGluValLeuAspGlnLeuAlaAsnLeuAsnGlyArgAspLeuSerIleTrpSerSerGlySerArgHisMetLysLysGlnThrPheValValHisAlaGlyThrAspThrAsnGlyAspIlePhePheMetGluValCysAspAspCysValValLeuArgSerAsnIleGlyThrValTyrGluArgTrpTrpTyrGluLysLeuIleAsnMetThrTyrCysProLysThrLysValLeuCysLeuTrpArgArgAsnGlySerGluThrGlnLeuAsnLysPheTyrThrLysLysCysArgGluLeuTyrTyrCysValLysAspSerMetGluArgAlaAlaAlaArgGlnGlnSerIleLysProGlyProGluLeuGlyGlyGluPheProValGlnAspLeuLysThrGlyGluGlyGlyLeuLeuGlnValThrLeuGluGlyIleAsnLeuLysPheMetHisAsnGlnPheLeuLysLeuLysLysTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694657" }, { "@id": "http://reg.genome.network/allele/PA2828676939", "coordinates": [ { "allele": "A", "end": 3825, "referenceAllele": "T", "start": 3824 } ], 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