| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.154172972G>C | CA232686 | TPM3 | c.391C>G (p.Arg131Gly) n.358C>G c.*107C>G (n.*107C>G) c.502C>G (p.Arg168Gly) c.412C>G c.121C>G (p.Arg41Gly) n.281C>G c.316C>G (p.Arg106Gly) c.343C>G (p.Arg115Gly) n.467C>G n.285C>G n.446C>G n.253C>G c.267-881C>G (n.267-881C>G) c.193C>G (p.Arg65Gly) n.521C>G n.490C>G | ClinVar dbSNP |
| 1 | g.154172972G>A | CA144544 | TPM3 | c.391C>T (p.Arg131Cys) n.358C>T c.*107C>T (n.*107C>T) c.502C>T (p.Arg168Cys) c.412C>T c.121C>T (p.Arg41Cys) n.281C>T c.316C>T (p.Arg106Cys) c.343C>T (p.Arg115Cys) n.467C>T n.285C>T n.446C>T n.253C>T c.267-881C>T (n.267-881C>T) c.193C>T (p.Arg65Cys) n.521C>T n.490C>T | ClinVar dbSNP |