Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.137709759T>A | CA3422542 | KLHL3 | c.232A>T (p.Met78Leu) c.112A>T (p.Met38Leu) c.136A>T (p.Met46Leu) n.369A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137709759T>C | CA269978 | KLHL3 | c.232A>G (p.Met78Val) c.112A>G (p.Met38Val) c.136A>G (p.Met46Val) n.369A>G | ClinVar dbSNP |