Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.33411697G>C | CA9364132 | PEPD | c.793C>G (p.Arg265Gly) c.748C>G (p.Arg250Gly) c.844C>G (p.Arg282Gly) n.856C>G c.472C>G (p.Arg158Gly) c.835C>G (p.Arg279Gly) n.676C>G c.1043C>G c.530C>G (n.530C>G) c.602C>G n.255C>G n.280C>G c.481C>G (p.Arg161Gly) c.782C>G n.468C>G c.789C>G c.670C>G (p.Arg224Gly) c.601C>G (p.Arg201Gly) c.284C>G n.428C>G n.958C>G c.226C>G (p.Arg76Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.33411697G>A | CA339803 | PEPD | c.793C>T (p.Arg265Ter) c.748C>T (p.Arg250Ter) c.844C>T (p.Arg282Ter) n.856C>T c.472C>T (p.Arg158Ter) c.835C>T (p.Arg279Ter) n.676C>T c.1043C>T c.530C>T (n.530C>T) c.602C>T n.255C>T n.280C>T c.481C>T (p.Arg161Ter) c.782C>T n.468C>T c.789C>T c.670C>T (p.Arg224Ter) c.601C>T (p.Arg201Ter) c.284C>T n.428C>T n.958C>T c.226C>T (p.Arg76Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |