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"NP_001317019.1:p.Trp40_Thr302delinsThrArgPheProLysTrpAsnAlaCysCysGluSerGluMetSerPheGlnLeuLysThrArgSerAlaArgGlyLeuValLeuTyrPheAspAspGluGlyPheCysAspPheLeuGluLeuIleLeuThrArgGlyGlyArgLeuGlnLeuSerPheSerIlePheCysAlaGluProAlaThrLeuLeuAlaAspThrProValAsnAspGlyAlaTrpHisSerValArgIleArgArgGlnPheArgAsnThrThrLeuPheIleAspGlnValGluAlaLysTrpValGluValLysSerLysArgArgAspMetThrValPheSerGlyLeuPheValGlyGlyLeuProProGluLeuArgAlaAlaAlaLeuLysLeuThrLeuAlaSerValArgGluArgGluProPheLysGlyTrpIleArgAspValArgValAsnSerSerGlnValLeuProValAspSerGlyGluValLysLeuAspAspGluProProAsnSerGlyGlyGlySerProCysGluAlaGlyGluGluGlyGluGlyGlyValCysLeuAsnGlyGlyValCysSerValValAspAspGlnAlaValCysAspCysSerArgThrGlyPheArgGlyLysAspCysSerGlnGluAspAsnAsnValGluGlyLeuAlaHisLeuMetMetGlyAspGlnGlyLysSerLysGluLeuMetLeuIleLeuLeuCysSerIleThrThrGlnGlyLeuGluThrAlaLysSerLeuIleMetCysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718597" }, { "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN008008", "geneNCBI_id": 9378, "geneSymbol": "NRXN1", "hgvs": [ "NM_001330093.2:c.119G>A" ], "proteinEffect": { "hgvs": "NP_001317022.1:p.Trp40Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS718600" }, { "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN008008", "geneNCBI_id": 9378, "geneSymbol": "NRXN1", "hgvs": [ "NM_001330094.2:c.119G>A" ], "proteinEffect": { "hgvs": "NP_001317023.1:p.Trp40Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS718601" }, { "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN008008", "geneNCBI_id": 9378, "geneSymbol": "NRXN1", "hgvs": [ "NM_001330095.2:c.119G>A" ], "proteinEffect": { "hgvs": "NP_001317024.1:p.Trp40Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS718602" }, { "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN008008", "geneNCBI_id": 9378, "geneSymbol": "NRXN1", "hgvs": [ "NM_001330096.2:c.119G>A" ], "proteinEffect": { "hgvs": "NP_001317025.1:p.Trp40Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS718603" }, { "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN008008", "geneNCBI_id": 9378, "geneSymbol": "NRXN1", "hgvs": [ "NM_004801.6:c.119G>A" ], "proteinEffect": { "hgvs": "NP_004792.1:p.Trp40Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS727552" } ], "type": "nucleotide" }