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"referenceSequence": "http://reg.genome.network/refseq/RS406731" }, { "coordinates": [ { "allele": "A", "end": 1095, "referenceAllele": "C", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000627659.2:c.677C>A" ], "proteinEffect": { "hgvs": "ENSP00000486490.1:p.Ser226Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193347.1:c.737C>A" ], "proteinEffect": { "hgvs": "NP_001180276.1:p.Ser246Ter", "hgvsWellDefined": "NP_001180276.1:p.Ser246_Thr483delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": 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"http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193349.1:c.539C>A" ], "proteinEffect": { "hgvs": "NP_001180278.1:p.Ser180Ter", "hgvsWellDefined": "NP_001180278.1:p.Ser180_Thr393delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016366" }, { "@id": 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"referenceSequence": "http://reg.genome.network/refseq/RS523804" }, { "@id": "http://reg.genome.network/allele/PA2828140917", "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "C", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364332.1:c.539C>A" ], "proteinEffect": { "hgvs": "NP_001351261.1:p.Ser180Ter", "hgvsWellDefined": 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"hgvs": [ "NM_001364333.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351262.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351262.1:p.Ser228_Thr465delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523806" }, { "@id": "http://reg.genome.network/allele/PA2828141512", "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364334.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351263.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351263.1:p.Ser228_Thr441delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523807" }, { "@id": "http://reg.genome.network/allele/PA2828141809", "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364335.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351264.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351264.1:p.Ser228_Thr441delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523808" }, { "@id": "http://reg.genome.network/allele/PA2828142106", "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364336.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351265.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351265.1:p.Ser228_Thr441delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523809" }, { "@id": "http://reg.genome.network/allele/PA2828142403", "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364337.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351266.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351266.1:p.Ser228_Thr441delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523810" }, { "@id": "http://reg.genome.network/allele/PA2828142694", "coordinates": [ { "allele": "A", "end": 1106, "referenceAllele": "C", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364338.1:c.737C>A" ], "proteinEffect": { "hgvs": "NP_001351267.1:p.Ser246Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364340.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351269.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351269.1:p.Ser228_Thr433delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523813" }, { "@id": "http://reg.genome.network/allele/PA2828143535", "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "C", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364341.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351270.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351270.1:p.Ser228_Thr433delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523814" }, { "@id": "http://reg.genome.network/allele/PA2828143828", "coordinates": [ { "allele": "A", "end": 975, "referenceAllele": "C", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364342.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351271.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351271.1:p.Ser228_Thr433delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523815" }, { "@id": "http://reg.genome.network/allele/PA2828144107", "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364343.1:c.677C>A" ], "proteinEffect": { "hgvs": "NP_001351272.1:p.Ser226Ter", "hgvsWellDefined": "NP_001351272.1:p.Ser226_Thr431delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523816" }, { "@id": "http://reg.genome.network/allele/PA2828144377", "coordinates": [ { "allele": "A", "end": 911, "referenceAllele": "C", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364344.1:c.539C>A" ], "proteinEffect": { "hgvs": "NP_001351273.1:p.Ser180Ter", "hgvsWellDefined": "NP_001351273.1:p.Ser180_Thr425delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523817" }, { "@id": "http://reg.genome.network/allele/PA2828144679", "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364345.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351274.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351274.1:p.Ser228_Cys388delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523818" }, { "@id": "http://reg.genome.network/allele/PA2828144941", "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364346.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351275.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351275.1:p.Ser228_Cys388delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523819" }, { "@id": "http://reg.genome.network/allele/PA2828145203", "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364347.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351276.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351276.1:p.Ser228_Cys388delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523820" }, { "@id": "http://reg.genome.network/allele/PA2828145461", "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364348.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351277.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351277.1:p.Ser228_Cys380delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523821" }, { "@id": "http://reg.genome.network/allele/PA2828145719", "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364349.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351278.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351278.1:p.Ser228_Cys380delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523822" }, { "@id": "http://reg.genome.network/allele/PA2828145977", "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "C", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364350.1:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351279.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351279.1:p.Ser228_Cys380delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523823" }, { "@id": "http://reg.genome.network/allele/PA2828146220", "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364352.1:c.677C>A" ], "proteinEffect": { "hgvs": "NP_001351281.1:p.Ser226Ter", "hgvsWellDefined": "NP_001351281.1:p.Ser226_Cys378delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523824" }, { "@id": "http://reg.genome.network/allele/PA2828146368", "coordinates": [ { "allele": "A", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364353.1:c.305C>A" ], "proteinEffect": { "hgvs": "NP_001351282.1:p.Ser102Ter", "hgvsWellDefined": "NP_001351282.1:p.Ser102_Thr347delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523825" }, { "@id": "http://reg.genome.network/allele/PA2828146647", "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "C", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364354.1:c.539C>A" ], "proteinEffect": { "hgvs": "NP_001351283.1:p.Ser180Ter", "hgvsWellDefined": "NP_001351283.1:p.Ser180_Cys340delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523826" }, { "@id": "http://reg.genome.network/allele/PA2828146881", "coordinates": [ { "allele": "A", "end": 911, "referenceAllele": "C", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364355.1:c.539C>A" ], "proteinEffect": { "hgvs": "NP_001351284.1:p.Ser180Ter", "hgvsWellDefined": "NP_001351284.1:p.Ser180_Cys340delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523827" }, { "@id": "http://reg.genome.network/allele/PA2828147004", "coordinates": [ { "allele": "A", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364356.1:c.305C>A" ], "proteinEffect": { "hgvs": "NP_001351285.1:p.Ser102Ter", "hgvsWellDefined": "NP_001351285.1:p.Ser102_Thr315delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523828" }, { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS523829" }, { "coordinates": [ { "allele": "A", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_005248511.3:c.683C>A" ], "proteinEffect": { "hgvs": "XP_005248568.1:p.Ser228Ter", "hgvsWellDefined": 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[ "NM_001363581.2:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001350510.1:p.Ser228Ter", "hgvsWellDefined": "NP_001350510.1:p.Ser228_Thr441delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720756" }, { "@id": "http://reg.genome.network/allele/PA2828140917", "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "C", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364332.2:c.539C>A" ], "proteinEffect": { "hgvs": "NP_001351261.1:p.Ser180Ter", "hgvsWellDefined": "NP_001351261.1:p.Ser180_Thr393delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720847" }, { "@id": "http://reg.genome.network/allele/PA2828141512", "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364334.2:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351263.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351263.1:p.Ser228_Thr441delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720848" }, { "@id": "http://reg.genome.network/allele/PA2828141809", "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364335.2:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351264.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351264.1:p.Ser228_Thr441delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720849" }, { "@id": "http://reg.genome.network/allele/PA2828142106", "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364336.2:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351265.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351265.1:p.Ser228_Thr441delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720850" }, { "@id": "http://reg.genome.network/allele/PA2828142403", "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364337.2:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351266.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351266.1:p.Ser228_Thr441delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720851" }, { "@id": "http://reg.genome.network/allele/PA2828142694", "coordinates": [ { "allele": "A", "end": 1106, "referenceAllele": "C", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364338.2:c.737C>A" ], "proteinEffect": { "hgvs": "NP_001351267.1:p.Ser246Ter", "hgvsWellDefined": "NP_001351267.1:p.Ser246_Thr451delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720852" }, { "@id": "http://reg.genome.network/allele/PA2828143242", "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364340.2:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351269.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351269.1:p.Ser228_Thr433delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720853" }, { "@id": "http://reg.genome.network/allele/PA2828143535", "coordinates": [ { "allele": "A", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364341.2:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351270.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351270.1:p.Ser228_Thr433delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720854" }, { "@id": "http://reg.genome.network/allele/PA2828143828", "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "C", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364342.2:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351271.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351271.1:p.Ser228_Thr433delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720855" }, { "@id": "http://reg.genome.network/allele/PA2828144107", "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364343.2:c.677C>A" ], "proteinEffect": { "hgvs": "NP_001351272.1:p.Ser226Ter", "hgvsWellDefined": "NP_001351272.1:p.Ser226_Thr431delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720856" }, { "@id": "http://reg.genome.network/allele/PA2828145977", "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "C", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364350.2:c.683C>A" ], "proteinEffect": { "hgvs": "NP_001351279.1:p.Ser228Ter", "hgvsWellDefined": "NP_001351279.1:p.Ser228_Cys380delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720857" }, { "@id": "http://reg.genome.network/allele/PA2828147004", "coordinates": [ { "allele": "A", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364356.2:c.305C>A" ], "proteinEffect": { "hgvs": "NP_001351285.1:p.Ser102Ter", "hgvsWellDefined": "NP_001351285.1:p.Ser102_Thr315delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720858" }, { "@id": "http://reg.genome.network/allele/PA916044872", "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "C", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364357.2:c.257C>A" ], "proteinEffect": { "hgvs": "NP_001351286.1:p.Ser86Ter", "hgvsWellDefined": "NP_001351286.1:p.Ser86_Thr291delinsProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720859" } ], "type": "nucleotide" }