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"NP_001310878.1:p.Arg270_Gln461delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686158" }, { "@id": "http://reg.genome.network/allele/PA2826267002", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001204136.2:c.1237C>T" ], "proteinEffect": { "hgvs": "NP_001191065.1:p.Arg413Ter", "hgvsWellDefined": "NP_001191065.1:p.Arg414_Ser655delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProSerLeuGlnGlyArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714117" }, { "@id": "http://reg.genome.network/allele/PA2826267094", "coordinates": [ { "allele": "T", "end": 1423, 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"NP_001310871.1:p.Arg439_Ser680delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProSerLeuGlnGlyArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718368" }, { "@id": "http://reg.genome.network/allele/PA2827203213", "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001323947.2:c.1312C>T" ], "proteinEffect": { "hgvs": "NP_001310876.1:p.Arg438Ter", "hgvsWellDefined": "NP_001310876.1:p.Arg439_Ser665delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProSerLeuGlnGlyArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718369" }, { "@id": "http://reg.genome.network/allele/PA2827203331", "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001323950.2:c.1234C>T" ], "proteinEffect": { "hgvs": "NP_001310879.1:p.Arg412Ter", "hgvsWellDefined": "NP_001310879.1:p.Arg413_Gln589delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718370" }, { "@id": "http://reg.genome.network/allele/PA2827203360", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001323951.2:c.1237C>T" ], "proteinEffect": { "hgvs": "NP_001310880.1:p.Arg413Ter", "hgvsWellDefined": "NP_001310880.1:p.Arg414_Pro602delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgTyrTyrHisLeuAlaLeuAspTrpLysCysAsnCysGlyTyrHisLeuCysCysArgSerValLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718371" }, { "@id": "http://reg.genome.network/allele/PA2827203389", "coordinates": [ { "allele": "T", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001323952.2:c.994C>T" ], "proteinEffect": { "hgvs": "NP_001310881.1:p.Arg332Ter", "hgvsWellDefined": "NP_001310881.1:p.Arg333_Gln524delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718372" }, { "@id": "http://reg.genome.network/allele/PA2827203409", "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "C", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001323953.2:c.661C>T" ], "proteinEffect": { "hgvs": 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"http://reg.genome.network/allele/PA2829169768", "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001388140.1:c.1312C>T" ], "proteinEffect": { "hgvs": "NP_001375069.1:p.Arg438Ter", "hgvsWellDefined": "NP_001375069.1:p.Arg439_Gln630delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": 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"referenceSequence": "http://reg.genome.network/refseq/RS725859" }, { "@id": "http://reg.genome.network/allele/PA2829170159", "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001388153.1:c.1312C>T" ], "proteinEffect": { "hgvs": "NP_001375082.1:p.Arg438Ter", "hgvsWellDefined": "NP_001375082.1:p.Arg439_Gln615delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS725860" }, { "@id": "http://reg.genome.network/allele/PA2829170190", "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001388154.1:c.1312C>T" ], "proteinEffect": { "hgvs": "NP_001375083.1:p.Arg438Ter", "hgvsWellDefined": "NP_001375083.1:p.Arg439_Gln615delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS725861" }, { "@id": "http://reg.genome.network/allele/PA2829170219", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001388155.1:c.1237C>T" ], "proteinEffect": { "hgvs": "NP_001375084.1:p.Arg413Ter", "hgvsWellDefined": 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"referenceAllele": "C", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399880.1:c.1390C>T" ], "proteinEffect": { "hgvs": "NP_001386809.1:p.Arg464Ter", "hgvsWellDefined": "NP_001386809.1:p.Arg465_Gln656delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783302" }, { "@id": "http://reg.genome.network/allele/PA2829287959", "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399881.1:c.1234C>T" ], "proteinEffect": { "hgvs": "NP_001386810.1:p.Arg412Ter", "hgvsWellDefined": "NP_001386810.1:p.Arg413_Ser654delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProSerLeuGlnGlyArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783303" }, { "@id": "http://reg.genome.network/allele/PA2829287984", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399882.1:c.1237C>T" ], "proteinEffect": { "hgvs": "NP_001386811.1:p.Arg413Ter", "hgvsWellDefined": "NP_001386811.1:p.Arg414_Ser651delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783304" }, { "@id": "http://reg.genome.network/allele/PA2829288011", "coordinates": [ { "allele": "T", "end": 1495, "referenceAllele": "C", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399883.1:c.1309C>T" ], "proteinEffect": { "hgvs": "NP_001386812.1:p.Arg437Ter", "hgvsWellDefined": "NP_001386812.1:p.Arg438_Pro641delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgTyrTyrHisLeuAlaLeuAspTrpLysCysAsnCysGlyTyrHisLeuCysCysArgSerValLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783305" }, { "@id": "http://reg.genome.network/allele/PA2829288036", "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399884.1:c.1234C>T" ], "proteinEffect": { "hgvs": "NP_001386813.1:p.Arg412Ter", "hgvsWellDefined": "NP_001386813.1:p.Arg413_Arg636delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAlaGlyThrArgGluGlyLysMetAspValLysCysGlyArgProArgThrGlnTrpSerProArgAlaArgAlaGlyThrHisGluAspGlyLeuGluProMetSerValSerHisHisLeuGlnLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783306" }, { "@id": "http://reg.genome.network/allele/PA2829288060", "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399885.1:c.1234C>T" ], "proteinEffect": { "hgvs": "NP_001386814.1:p.Arg412Ter", "hgvsWellDefined": "NP_001386814.1:p.Arg413_Arg636delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAlaGlyThrArgGluGlyLysMetAspValLysCysGlyArgProArgThrGlnTrpSerProArgAlaArgAlaGlyThrHisGluAspGlyLeuGluProMetSerValSerHisHisLeuGlnLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783307" }, { "@id": "http://reg.genome.network/allele/PA2829288086", "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399886.1:c.1312C>T" ], "proteinEffect": { "hgvs": "NP_001386815.1:p.Arg438Ter", "hgvsWellDefined": "NP_001386815.1:p.Arg439_Gln630delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783308" }, { "@id": "http://reg.genome.network/allele/PA2829288110", "coordinates": [ { "allele": "T", "end": 1348, "referenceAllele": "C", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399887.1:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_001386816.1:p.Arg388Ter", "hgvsWellDefined": "NP_001386816.1:p.Arg389_Ser630delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProSerLeuGlnGlyArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783309" }, { "@id": "http://reg.genome.network/allele/PA2829288137", "coordinates": [ { "allele": "T", "end": 1495, "referenceAllele": "C", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399888.1:c.1309C>T" ], "proteinEffect": { "hgvs": "NP_001386817.1:p.Arg437Ter", "hgvsWellDefined": "NP_001386817.1:p.Arg438_Gln629delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783310" }, { "@id": "http://reg.genome.network/allele/PA2829288163", "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399889.1:c.1312C>T" ], "proteinEffect": { "hgvs": "NP_001386818.1:p.Arg438Ter", "hgvsWellDefined": "NP_001386818.1:p.Arg439_Pro627delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgTyrTyrHisLeuAlaLeuAspTrpLysCysAsnCysGlyTyrHisLeuCysCysArgSerValLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783311" }, { "@id": "http://reg.genome.network/allele/PA2829288188", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399890.1:c.1237C>T" ], "proteinEffect": { "hgvs": "NP_001386819.1:p.Arg413Ter", "hgvsWellDefined": "NP_001386819.1:p.Arg414_Arg622delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAlaGlyThrArgGluGlyLysMetAspValLysCysGlyArgProArgThrGlnTrpSerProArgAlaArgAlaGlyThrHisGluAspGlyLeuGluProMetSerValSerHisHisLeuGlnLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783312" }, { "@id": "http://reg.genome.network/allele/PA2829288212", "coordinates": [ { "allele": "T", "end": 1429, "referenceAllele": "C", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399891.1:c.1243C>T" ], "proteinEffect": { "hgvs": "NP_001386820.1:p.Arg415Ter", "hgvsWellDefined": "NP_001386820.1:p.Arg416_Pro619delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgTyrTyrHisLeuAlaLeuAspTrpLysCysAsnCysGlyTyrHisLeuCysCysArgSerValLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783313" }, { "@id": "http://reg.genome.network/allele/PA2829288237", "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399892.1:c.1234C>T" ], "proteinEffect": { "hgvs": "NP_001386821.1:p.Arg412Ter", "hgvsWellDefined": "NP_001386821.1:p.Arg413_Pro616delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgTyrTyrHisLeuAlaLeuAspTrpLysCysAsnCysGlyTyrHisLeuCysCysArgSerValLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783314" }, { "@id": "http://reg.genome.network/allele/PA2829288260", "coordinates": [ { "allele": "T", "end": 1354, "referenceAllele": "C", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN006916", 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"coordinates": [ { "allele": "T", "end": 1429, "referenceAllele": "C", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399894.1:c.1243C>T" ], "proteinEffect": { "hgvs": "NP_001386823.1:p.Arg415Ter", "hgvsWellDefined": "NP_001386823.1:p.Arg416_Ser611delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProSerLeuGlnGlyArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783316" }, { 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"http://reg.genome.network/refseq/RS783318" }, { "@id": "http://reg.genome.network/allele/PA2829288357", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399897.1:c.1237C>T" ], "proteinEffect": { "hgvs": "NP_001386826.1:p.Arg413Ter", "hgvsWellDefined": "NP_001386826.1:p.Arg414_Gln605delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783319" }, { "@id": "http://reg.genome.network/allele/PA2829288381", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399898.1:c.1237C>T" ], "proteinEffect": { "hgvs": 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"http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399901.1:c.1234C>T" ], "proteinEffect": { "hgvs": "NP_001386830.1:p.Arg412Ter", "hgvsWellDefined": "NP_001386830.1:p.Arg413_Gln604delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783323" }, { "@id": "http://reg.genome.network/allele/PA2829288477", "coordinates": [ { "allele": "T", "end": 1420, 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"coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399903.1:c.1237C>T" ], "proteinEffect": { "hgvs": "NP_001386832.1:p.Arg413Ter", "hgvsWellDefined": "NP_001386832.1:p.Arg414_Ser601delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProSerLeuGlnGlyArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783325" }, { "@id": "http://reg.genome.network/allele/PA2829288523", "coordinates": [ { "allele": "T", "end": 1252, "referenceAllele": "C", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399904.1:c.1066C>T" ], "proteinEffect": { "hgvs": "NP_001386833.1:p.Arg356Ter", "hgvsWellDefined": "NP_001386833.1:p.Arg357_Ser598delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProSerLeuGlnGlyArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783326" }, { "@id": "http://reg.genome.network/allele/PA2829288548", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399905.1:c.1237C>T" ], "proteinEffect": { "hgvs": "NP_001386834.1:p.Arg413Ter", "hgvsWellDefined": "NP_001386834.1:p.Arg414_Gln597delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783327" }, { "@id": "http://reg.genome.network/allele/PA2829288572", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399906.1:c.1237C>T" ], "proteinEffect": { "hgvs": "NP_001386835.1:p.Arg413Ter", "hgvsWellDefined": "NP_001386835.1:p.Arg414_Leu596delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAspLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783328" }, { "@id": "http://reg.genome.network/allele/PA2829288595", "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399907.1:c.1069C>T" ], "proteinEffect": { "hgvs": "NP_001386836.1:p.Arg357Ter", "hgvsWellDefined": "NP_001386836.1:p.Arg358_Ser595delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783329" }, { "@id": "http://reg.genome.network/allele/PA2829288618", "coordinates": [ { "allele": "T", "end": 1354, "referenceAllele": "C", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399908.1:c.1168C>T" ], "proteinEffect": { "hgvs": "NP_001386837.1:p.Arg390Ter", "hgvsWellDefined": "NP_001386837.1:p.Arg391_Pro594delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgTyrTyrHisLeuAlaLeuAspTrpLysCysAsnCysGlyTyrHisLeuCysCysArgSerValLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783330" }, { "@id": "http://reg.genome.network/allele/PA2829288643", "coordinates": [ { "allele": "T", "end": 1348, "referenceAllele": "C", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399909.1:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_001386838.1:p.Arg388Ter", "hgvsWellDefined": "NP_001386838.1:p.Arg389_Pro592delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgTyrTyrHisLeuAlaLeuAspTrpLysCysAsnCysGlyTyrHisLeuCysCysArgSerValLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783331" 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"http://reg.genome.network/refseq/RS783333" }, { "@id": "http://reg.genome.network/allele/PA2829288714", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399912.1:c.1237C>T" ], "proteinEffect": { "hgvs": "NP_001386841.1:p.Arg413Ter", "hgvsWellDefined": "NP_001386841.1:p.Arg414_Gln590delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": 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"http://reg.genome.network/refseq/RS783336" }, { "@id": "http://reg.genome.network/allele/PA2829288786", "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399915.1:c.1234C>T" ], "proteinEffect": { "hgvs": "NP_001386844.1:p.Arg412Ter", "hgvsWellDefined": "NP_001386844.1:p.Arg413_Gln589delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783337" }, { "@id": "http://reg.genome.network/allele/PA2829288802", "coordinates": [ { "allele": "T", "end": 1385, "referenceAllele": "C", "start": 1384 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399916.1:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_001386845.1:p.Arg360Ter", "hgvsWellDefined": 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} ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399918.1:c.1069C>T" ], "proteinEffect": { "hgvs": "NP_001386847.1:p.Arg357Ter", "hgvsWellDefined": "NP_001386847.1:p.Arg358_Ser584delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProSerLeuGlnGlyArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": 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4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399920.1:c.1168C>T" ], "proteinEffect": { "hgvs": "NP_001386849.1:p.Arg390Ter", "hgvsWellDefined": "NP_001386849.1:p.Arg391_Gln582delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783342" }, { "@id": "http://reg.genome.network/allele/PA2829288921", "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": 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"http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399942.1:c.1069C>T" ], "proteinEffect": { "hgvs": "NP_001386871.1:p.Arg357Ter", "hgvsWellDefined": "NP_001386871.1:p.Arg358_Gln549delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783364" }, { "@id": "http://reg.genome.network/allele/PA2829289427", "coordinates": [ { "allele": "T", "end": 1252, 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"http://reg.genome.network/allele/PA2829289497", "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399946.1:c.1075C>T" ], "proteinEffect": { "hgvs": "NP_001386875.1:p.Arg359Ter", "hgvsWellDefined": "NP_001386875.1:p.Arg360_Arg537delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAlaGlyThrArgGluGlyLysMetAspValLysCysGlyArgProArgThrGlnTrpSerProArgAlaArgAlaGlyThrHisGluAspGlyLeuGluProMetSerValSerHisHisLeuGlnLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783368" }, { "@id": "http://reg.genome.network/allele/PA2829289518", "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399947.1:c.1069C>T" ], "proteinEffect": { "hgvs": "NP_001386876.1:p.Arg357Ter", "hgvsWellDefined": "NP_001386876.1:p.Arg358_Gln534delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783369" }, { "@id": "http://reg.genome.network/allele/PA2829289541", "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399948.1:c.1069C>T" ], "proteinEffect": { "hgvs": "NP_001386877.1:p.Arg357Ter", "hgvsWellDefined": "NP_001386877.1:p.Arg358_Gln534delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783370" }, { "@id": "http://reg.genome.network/allele/PA2829289564", "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399949.1:c.1075C>T" ], "proteinEffect": { "hgvs": "NP_001386878.1:p.Arg359Ter", "hgvsWellDefined": "NP_001386878.1:p.Arg360_Arg529delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAlaGlyThrArgGluGlyLysMetAspValLysCysGlyArgProArgThrGlnTrpSerProArgAlaArgAlaGlyThrHisGluAspGlyLeuGluProMetSerValSerHisHisLeuGlnLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783371" }, { "@id": "http://reg.genome.network/allele/PA2829289583", "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399950.1:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001386879.1:p.Arg334Ter", "hgvsWellDefined": "NP_001386879.1:p.Arg335_Gln526delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783372" }, { "@id": "http://reg.genome.network/allele/PA2829289606", "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399952.1:c.1069C>T" ], "proteinEffect": { "hgvs": "NP_001386881.1:p.Arg357Ter", "hgvsWellDefined": "NP_001386881.1:p.Arg358_Leu525delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAspLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783373" }, { "@id": "http://reg.genome.network/allele/PA2829289627", "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399953.1:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001386882.1:p.Arg334Ter", "hgvsWellDefined": "NP_001386882.1:p.Arg335_Leu517delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAspLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783374" }, { "@id": "http://reg.genome.network/allele/PA2829289648", "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399954.1:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001386883.1:p.Arg334Ter", "hgvsWellDefined": "NP_001386883.1:p.Arg335_Arg512delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAlaGlyThrArgGluGlyLysMetAspValLysCysGlyArgProArgThrGlnTrpSerProArgAlaArgAlaGlyThrHisGluAspGlyLeuGluProMetSerValSerHisHisLeuGlnLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783375" }, { "@id": "http://reg.genome.network/allele/PA2829289669", "coordinates": [ { "allele": "T", "end": 1114, "referenceAllele": "C", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399955.1:c.928C>T" ], "proteinEffect": { "hgvs": "NP_001386884.1:p.Arg310Ter", "hgvsWellDefined": "NP_001386884.1:p.Arg311_Ser506delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProSerLeuGlnGlyArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783376" }, { "@id": "http://reg.genome.network/allele/PA2829289691", "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399956.1:c.1075C>T" ], "proteinEffect": { 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"NP_001386887.1:p.Arg358_Leu494delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAspLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783379" }, { "@id": "http://reg.genome.network/allele/PA2829289751", "coordinates": [ { "allele": "T", "end": 1490, "referenceAllele": "C", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399959.1:c.805C>T" ], "proteinEffect": { "hgvs": "NP_001386888.1:p.Arg269Ter", "hgvsWellDefined": "NP_001386888.1:p.Arg270_Arg493delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAlaGlyThrArgGluGlyLysMetAspValLysCysGlyArgProArgThrGlnTrpSerProArgAlaArgAlaGlyThrHisGluAspGlyLeuGluProMetSerValSerHisHisLeuGlnLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783380" }, { "@id": "http://reg.genome.network/allele/PA2829289772", "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399960.1:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001386889.1:p.Arg334Ter", "hgvsWellDefined": "NP_001386889.1:p.Arg335_Pro492delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgTyrTyrHisLeuAlaLeuAspTrpLysCysAsnCysGlyTyrHisLeuCysCysArgSerValLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783381" }, { "@id": "http://reg.genome.network/allele/PA2829289792", "coordinates": [ { "allele": "T", "end": 1039, "referenceAllele": "C", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399961.1:c.853C>T" ], "proteinEffect": { "hgvs": "NP_001386890.1:p.Arg285Ter", "hgvsWellDefined": "NP_001386890.1:p.Arg286_Pro489delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgTyrTyrHisLeuAlaLeuAspTrpLysCysAsnCysGlyTyrHisLeuCysCysArgSerValLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783382" }, { "@id": "http://reg.genome.network/allele/PA2829289811", "coordinates": [ { "allele": "T", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399962.1:c.730C>T" ], "proteinEffect": { "hgvs": "NP_001386891.1:p.Arg244Ter", "hgvsWellDefined": "NP_001386891.1:p.Arg245_Ser486delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProSerLeuGlnGlyArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783383" }, { "@id": "http://reg.genome.network/allele/PA2829289833", "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399963.1:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001386892.1:p.Arg334Ter", "hgvsWellDefined": "NP_001386892.1:p.Arg335_Gln480delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783384" }, { "@id": "http://reg.genome.network/allele/PA2829289852", "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399964.1:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001386893.1:p.Arg334Ter", "hgvsWellDefined": "NP_001386893.1:p.Arg335_Gln480delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783385" }, { "@id": "http://reg.genome.network/allele/PA2829289870", "coordinates": [ { "allele": "T", "end": 1487, "referenceAllele": "C", "start": 1486 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399965.1:c.802C>T" ], "proteinEffect": { "hgvs": "NP_001386894.1:p.Arg268Ter", "hgvsWellDefined": "NP_001386894.1:p.Arg269_Gln445delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783386" }, { "@id": "http://reg.genome.network/allele/PA2829289888", "coordinates": [ { "allele": "T", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399966.1:c.730C>T" ], "proteinEffect": { "hgvs": "NP_001386895.1:p.Arg244Ter", "hgvsWellDefined": "NP_001386895.1:p.Arg245_Ser440delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProSerLeuGlnGlyArgHisSerGlyArgGluAspGlyCysLysValTrpGluThrGluAspThrValGluProThrSerThrSerTrpAsnProArgGlyTrpProGlyThrHisValSerLeuSerProProProAlaSerMetMetTrpValSerCysArgArgSerTrpCysProSerSerGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783387" }, { "@id": "http://reg.genome.network/allele/PA2829289905", "coordinates": [ { "allele": "T", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399967.1:c.730C>T" ], "proteinEffect": { "hgvs": "NP_001386896.1:p.Arg244Ter", "hgvsWellDefined": "NP_001386896.1:p.Arg245_Gln436delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783388" }, { "@id": "http://reg.genome.network/allele/PA2829289923", "coordinates": [ { "allele": "T", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399968.1:c.730C>T" ], "proteinEffect": { "hgvs": "NP_001386897.1:p.Arg244Ter", "hgvsWellDefined": "NP_001386897.1:p.Arg245_Gln436delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783389" }, { "@id": "http://reg.genome.network/allele/PA2829290014", "coordinates": [ { "allele": "T", "end": 1415, "referenceAllele": "C", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399970.1:c.730C>T" ], "proteinEffect": { "hgvs": "NP_001386899.1:p.Arg244Ter", "hgvsWellDefined": "NP_001386899.1:p.Arg245_Gln436delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783391" }, { "@id": "http://reg.genome.network/allele/PA2829290031", "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399971.1:c.562C>T" ], "proteinEffect": { "hgvs": "NP_001386900.1:p.Arg188Ter", "hgvsWellDefined": "NP_001386900.1:p.Arg189_Arg412delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAlaGlyThrArgGluGlyLysMetAspValLysCysGlyArgProArgThrGlnTrpSerProArgAlaArgAlaGlyThrHisGluAspGlyLeuGluProMetSerValSerHisHisLeuGlnLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783392" }, { "@id": "http://reg.genome.network/allele/PA2829290113", "coordinates": [ { "allele": "T", "end": 1178, "referenceAllele": "C", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399973.1:c.493C>T" ], "proteinEffect": { "hgvs": "NP_001386902.1:p.Arg165Ter", "hgvsWellDefined": "NP_001386902.1:p.Arg166_Arg389delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAlaGlyThrArgGluGlyLysMetAspValLysCysGlyArgProArgThrGlnTrpSerProArgAlaArgAlaGlyThrHisGluAspGlyLeuGluProMetSerValSerHisHisLeuGlnLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783394" }, { "@id": "http://reg.genome.network/allele/PA2829290130", "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399974.1:c.562C>T" ], "proteinEffect": { "hgvs": "NP_001386903.1:p.Arg188Ter", "hgvsWellDefined": "NP_001386903.1:p.Arg189_Gln380delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783395" }, { "@id": "http://reg.genome.network/allele/PA2829290147", "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399975.1:c.562C>T" ], "proteinEffect": { "hgvs": "NP_001386904.1:p.Arg188Ter", "hgvsWellDefined": "NP_001386904.1:p.Arg189_Leu371delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnGluAlaGlnCysSerGlyLeuSerTrpValValAlaLeuProGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgAspLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783396" }, { "@id": "http://reg.genome.network/allele/PA2829290162", "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN006916", "geneNCBI_id": 4152, "geneSymbol": "MBD1", "hgvs": [ "NM_001399976.1:c.562C>T" ], "proteinEffect": { "hgvs": "NP_001386905.1:p.Arg188Ter", "hgvsWellDefined": "NP_001386905.1:p.Arg189_Gln365delinsHisHisLeuGlyProThrLeuLysProThrLeuAlaThrArgThrAlaGlnProAspHisThrGlnAlaProThrLysGlnGluAlaGlyGlyGlyPheValLeuProProProGlyThrAspLeuValPheLeuArgGluGlyAlaSerSerProValGlnValProGlyProValAlaAlaSerThrGluAlaLeuLeuGlnValLysGlnGluLysAlaAspThrGlnAspGluTrpThrProGlyThrAlaValLeuThrSerProValLeuValProGlyCysProSerLysAlaValAspProGlyLeuProSerValLysGlnGluProProAspProGluGluAspLysGluGluAsnLysAspAspSerAlaSerLysLeuAlaProGluGluGluAlaGlyGlyAlaGlyThrProValIleThrGluIlePheSerLeuGlyGlyThrArgPheArgAspThrAlaValTrpLeuProArgSerLysAspLeuLysLysProGlyAlaArgLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783397" } ], "type": "nucleotide" }