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gbanyan
2025-11-28 11:52:04 +08:00
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#CHROM POS REF ALT SYMBOL Consequence Protein_position PolyPhen SIFT CLIN_SIG AF gnomAD_AF SpliceAI CADD_PHRED
1 123456 A T GJB2 missense_variant p.Val37Ile benign tolerated Benign 0.012 0.012 0.02 5.1
2 234567 G C OTOF stop_gained p.* probably_damaging deleterious Uncertain_significance 0.0001 0.0001 0.6 28.5
1 #CHROM POS REF ALT SYMBOL Consequence Protein_position PolyPhen SIFT CLIN_SIG AF gnomAD_AF SpliceAI CADD_PHRED
2 1 123456 A T GJB2 missense_variant p.Val37Ile benign tolerated Benign 0.012 0.012 0.02 5.1
3 2 234567 G C OTOF stop_gained p.* probably_damaging deleterious Uncertain_significance 0.0001 0.0001 0.6 28.5