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"NP_001351259.1:p.Glu112_Thr473delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523803" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "G", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364331.1:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351260.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351260.1:p.Glu112_Thr473delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523804" }, { "coordinates": [ { "allele": "T", "end": 627, "endIntronDirection": "-", "endIntronOffset": 9209, "referenceAllele": "G", "start": 627, "startIntronDirection": "-", "startIntronOffset": 9210 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364332.1:c.259-9210G>T" ], "proteinEffect": { "hgvs": "NP_001351261.1:n.259-9210G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS523805" }, { "coordinates": [ { "allele": "T", "end": 703, "referenceAllele": "G", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364333.1:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351262.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351262.1:p.Glu112_Thr465delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523806" }, { "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364334.1:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351263.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351263.1:p.Glu112_Thr441delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523807" }, { "coordinates": [ { "allele": "T", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364335.1:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351264.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351264.1:p.Glu112_Thr441delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523808" }, { "coordinates": [ { "allele": "T", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364336.1:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351265.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351265.1:p.Glu112_Thr441delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523809" }, { "coordinates": [ { "allele": "T", "end": 703, "referenceAllele": "G", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364337.1:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351266.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351266.1:p.Glu112_Thr441delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523810" }, { "coordinates": [ { "allele": "T", "end": 687, "endIntronDirection": "+", "endIntronOffset": 16, "referenceAllele": "G", "start": 687, "startIntronDirection": "+", "startIntronOffset": 15 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364338.1:c.318+16G>T" ], "proteinEffect": { "hgvs": "NP_001351267.1:n.318+16G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS523811" }, { "coordinates": [ { "allele": "T", "end": 703, "referenceAllele": "G", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364339.1:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351268.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351268.1:p.Glu112_Thr433delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523812" }, { "coordinates": [ { "allele": "T", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364340.1:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351269.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351269.1:p.Glu112_Thr433delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523813" }, { "coordinates": [ { "allele": "T", "end": 629, "referenceAllele": "G", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364341.1:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351270.1:p.Glu112Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS523814" }, { "coordinates": [ { "allele": "T", "end": 626, "referenceAllele": "G", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364342.1:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351271.1:p.Glu112Ter", "hgvsWellDefined": 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4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364354.2:c.259-9210G>T" ], "proteinEffect": { "hgvs": "NP_001351283.1:n.259-9210G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690882" }, { "coordinates": [ { "allele": "T", "end": 630, "endIntronDirection": "-", "endIntronOffset": 9209, "referenceAllele": "G", "start": 630, "startIntronDirection": "-", "startIntronOffset": 9210 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364355.2:c.259-9210G>T" ], "proteinEffect": { "hgvs": "NP_001351284.1:n.259-9210G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690883" }, { "coordinates": [ { "allele": "T", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_002397.5:c.334G>T" ], "proteinEffect": { "hgvs": "NP_002388.2:p.Glu112Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS695533", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000504921.7:c.334G>T" }, "RefSeq": { "hgvs": "NM_002397.5:c.334G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000421925.5:p.Glu112Ter" }, "RefSeq": { "hgvs": "NP_002388.2:p.Glu112Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 630, "endIntronDirection": "-", "endIntronOffset": 9209, "referenceAllele": "G", "start": 630, "startIntronDirection": "-", "startIntronOffset": 9210 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193349.3:c.259-9210G>T" ], "proteinEffect": { "hgvs": "NP_001180278.1:n.259-9210G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713731" }, { "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS720756" }, { "coordinates": [ { "allele": "T", "end": 627, "endIntronDirection": "-", "endIntronOffset": 9209, "referenceAllele": "G", "start": 627, "startIntronDirection": "-", "startIntronOffset": 9210 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364332.2:c.259-9210G>T" ], "proteinEffect": { "hgvs": "NP_001351261.1:n.259-9210G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720847" }, { "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364334.2:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351263.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351263.1:p.Glu112_Thr441delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720848" }, { "coordinates": [ { "allele": "T", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364335.2:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351264.1:p.Glu112Ter", "hgvsWellDefined": 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"NP_001351265.1:p.Glu112_Thr441delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS720851" }, { "coordinates": [ { "allele": "T", "end": 687, "endIntronDirection": "+", "endIntronOffset": 16, "referenceAllele": "G", "start": 687, "startIntronDirection": "+", "startIntronOffset": 15 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364338.2:c.318+16G>T" ], "proteinEffect": { "hgvs": "NP_001351267.1:n.318+16G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720852" }, { "coordinates": [ { "allele": "T", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364340.2:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351269.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351269.1:p.Glu112_Thr433delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720853" }, { "coordinates": [ { "allele": "T", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364341.2:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351270.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351270.1:p.Glu112_Thr433delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720854" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364342.2:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351271.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351271.1:p.Glu112_Thr433delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720855" }, { "coordinates": [ { "allele": "T", "end": 627, "endIntronDirection": "-", "endIntronOffset": 127, "referenceAllele": "G", "start": 627, "startIntronDirection": "-", "startIntronOffset": 128 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364343.2:c.259-128G>T" ], "proteinEffect": { "hgvs": "NP_001351272.1:n.259-128G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720856" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364350.2:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001351279.1:p.Glu112Ter", "hgvsWellDefined": "NP_001351279.1:p.Glu112_Cys380delinsSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720857" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364356.2:c.-45G>T" ], "proteinEffect": { "hgvs": "NP_001351285.1:n.-45G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720858" }, { "coordinates": [ { "allele": "T", "end": 173, "endIntronDirection": "-", "endIntronOffset": 9209, "referenceAllele": "G", "start": 173, "startIntronDirection": "-", "startIntronOffset": 9210 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364357.2:c.-24-9210G>T" ], "proteinEffect": { "hgvs": "NP_001351286.1:n.-24-9210G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720859" } ], "type": "nucleotide" }