Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42126619G>A | CA324664501 | CYP2D6 | c.1247C>T (n.1247C>T) c.1449C>T (p.Phe483=) c.1296C>T (p.Phe432=) c.1067C>T (n.1067C>T) c.1440C>T (p.Phe480=) n.2173C>T c.1305C>T (p.Phe435=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.42126619G>C | CA10264513 | CYP2D6 | c.1247C>G (n.1247C>G) c.1449C>G (p.Phe483Leu) c.1296C>G (p.Phe432Leu) c.1067C>G (n.1067C>G) c.1440C>G (p.Phe480Leu) n.2173C>G c.1305C>G (p.Phe435Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |