Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.15563485C>A | CA2864084 | CC2D2A | c.3160C>A (p.Arg1054=) c.3145C>A (p.Arg1049=) c.2998C>A (p.Arg1000=) c.*151C>A (n.*151C>A) n.3956C>A n.365C>A n.3804C>A c.2622C>A c.1473C>A c.3128C>A (n.3128C>A) n.3390C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.15563485C>G | CA144221 | CC2D2A | c.3160C>G (p.Arg1054Gly) c.3145C>G (p.Arg1049Gly) c.2998C>G (p.Arg1000Gly) c.*151C>G (n.*151C>G) n.3956C>G n.365C>G n.3804C>G c.2622C>G c.1473C>G c.3128C>G (n.3128C>G) n.3390C>G | ClinVar dbSNP |
4 | g.15563485C>T | CA129544 | CC2D2A | c.3160C>T (p.Arg1054Ter) c.3145C>T (p.Arg1049Ter) c.2998C>T (p.Arg1000Ter) c.*151C>T (n.*151C>T) n.3956C>T n.365C>T n.3804C>T c.2622C>T c.1473C>T c.3128C>T (n.3128C>T) n.3390C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |