Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.50791780C>G | CA9602959 | ACP4,SMIM47 | c.428C>G (p.Thr143Arg) c.-60+625G>C (n.-60+625G>C) n.424+625G>C n.434+625G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.50791780C>A | CA9602960 | ACP4,SMIM47 | c.428C>A (p.Thr143Lys) c.-60+625G>T (n.-60+625G>T) n.424+625G>T n.434+625G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.50791780C>T | CA9602958 | ACP4,SMIM47 | c.428C>T (p.Thr143Met) c.-60+625G>A (n.-60+625G>A) n.424+625G>A n.434+625G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |