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"XP_005259974.1:p.[Ile173del;Arg175_Cys178delinsSerGlyGly;Arg180_Gln181delinsThr;Asp183_Trp186delinsCysAla;Asp189_Glu202delinsThrArgCysGlyGlyTrpThrTrpSerTrp]" }, "referenceSequence": "http://reg.genome.network/refseq/RS535087" }, { "coordinates": [ { "allele": "GA", "end": 376, "referenceAllele": "", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN007788", "geneNCBI_id": 4784, "geneSymbol": "NFIX", "hgvs": [ "NM_001271044.3:c.315_316dup" ], "proteinEffect": { "hgvs": "NP_001257973.1:p.Ile106ArgfsTer22", "hgvsWellDefined": "NP_001257973.1:p.[Ile106del;Arg108_Cys111delinsSerGlyGly;Arg113_Gln114delinsThr;Asp116_Trp119delinsCysAla;Asp122_Glu135delinsThrArgCysGlyGlyTrpThrTrpSerTrp]" }, "referenceSequence": "http://reg.genome.network/refseq/RS681111" }, { "coordinates": [ { "allele": "GA", "end": 703, "referenceAllele": "", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN007788", "geneNCBI_id": 4784, "geneSymbol": "NFIX", "hgvs": [ "NM_001365902.2:c.339_340dup" ], 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"start": 555 } ], "gene": "http://reg.genome.network/gene/GN007788", "geneNCBI_id": 4784, "geneSymbol": "NFIX", "hgvs": [ "NM_001365985.2:c.336_337dup" ], "proteinEffect": { "hgvs": "NP_001352914.1:p.Ile113ArgfsTer22", "hgvsWellDefined": "NP_001352914.1:p.[Ile113del;Arg115_Cys118delinsSerGlyGly;Arg120_Gln121delinsThr;Asp123_Trp126delinsCysAla;Asp129_Glu142delinsThrArgCysGlyGlyTrpThrTrpSerTrp]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691101" }, { "coordinates": [ { "allele": "GA", "end": 703, "referenceAllele": "", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN007788", "geneNCBI_id": 4784, "geneSymbol": "NFIX", "hgvs": [ "NM_002501.4:c.339_340dup" ], "proteinEffect": { "hgvs": "NP_002492.2:p.Ile114ArgfsTer22", "hgvsWellDefined": "NP_002492.2:p.[Ile114del;Arg116_Cys119delinsSerGlyGly;Arg121_Gln122delinsThr;Asp124_Trp127delinsCysAla;Asp130_Glu143delinsThrArgCysGlyGlyTrpThrTrpSerTrp]" }, "referenceSequence": "http://reg.genome.network/refseq/RS695558" }, { 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"nucleotide" }