Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.72402994T>C | CA381964587 | CLPB | c.*114A>G (n.*114A>G) n.585A>G c.514A>G (p.Met172Val) c.389A>G (p.His130Arg) c.1A>G (p.Met1Val) c.456-22610A>G (n.456-22610A>G) c.379A>G (p.Met127Val) n.341A>G c.529A>G (p.Met177Val) c.76A>G (p.Met26Val) | dbSNP |
11 | g.72402994T>G | CA16619403 | CLPB | c.*114A>C (n.*114A>C) n.585A>C c.514A>C (p.Met172Leu) c.389A>C (p.His130Pro) c.1A>C (p.Met1Leu) c.456-22610A>C (n.456-22610A>C) c.379A>C (p.Met127Leu) n.341A>C c.529A>C (p.Met177Leu) c.76A>C (p.Met26Leu) | ClinVar dbSNP |