| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160139813A>C | CA4084018 | SLC22A1 | c.1222A>C (p.Met408Leu) c.1061+3163A>C (n.1061+3163A>C) c.*695A>C (n.*695A>C) c.646A>C (p.Met216Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160139813A>G | CA4084017 | SLC22A1 | c.1222A>G (p.Met408Val) c.1061+3163A>G (n.1061+3163A>G) c.*695A>G (n.*695A>G) c.646A>G (p.Met216Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |