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"XP_011542186.1:p.[Ser208_Ala212delinsLeuLeuArgArgPro;Arg214del;Thr216_Lys223delinsHisValValAsn;Asn225_Lys228del;Gly230_Thr234delinsProGln;Ala236_Pro238delinsGlu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS110797" }, { "coordinates": [ { "allele": "", "end": 451, "referenceAllele": "CA", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN009330", "geneNCBI_id": 10084, "geneSymbol": "PQBP1", "hgvs": [ "XM_005272572.4:c.338_339del" ], "proteinEffect": { "hgvs": "XP_005272629.1:p.Ser113LeufsTer18", "hgvsWellDefined": "XP_005272629.1:p.[Ser113_Ala117delinsLeuLeuArgArgPro;Arg119del;Thr121_Lys128delinsHisValValAsn;Asn130_Lys133del;Gly135_Thr139delinsProGln;Ala141_Pro143delinsGlu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS537324" }, { "coordinates": [ { "allele": "", "end": 883, "referenceAllele": "CA", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN009330", "geneNCBI_id": 10084, "geneSymbol": "PQBP1", "hgvs": [ 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"http://reg.genome.network/gene/GN009330", "geneNCBI_id": 10084, "geneSymbol": "PQBP1", "hgvs": [ "NM_001032381.2:c.623_624del" ], "proteinEffect": { "hgvs": "NP_001027553.1:p.Ser208LeufsTer18", "hgvsWellDefined": "NP_001027553.1:p.[Ser208_Ala212delinsLeuLeuArgArgPro;Arg214del;Thr216_Lys223delinsHisValValAsn;Asn225_Lys228del;Gly230_Thr234delinsProGln;Ala236_Pro238delinsGlu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711506" }, { "coordinates": [ { "allele": "", "end": 795, "referenceAllele": "CA", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN009330", "geneNCBI_id": 10084, "geneSymbol": "PQBP1", "hgvs": [ "NM_001032382.2:c.623_624del" ], "proteinEffect": { "hgvs": "NP_001027554.1:p.Ser208LeufsTer18", "hgvsWellDefined": "NP_001027554.1:p.[Ser208_Ala212delinsLeuLeuArgArgPro;Arg214del;Thr216_Lys223delinsHisValValAsn;Asn225_Lys228del;Gly230_Thr234delinsProGln;Ala236_Pro238delinsGlu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711507", 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