| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160132375G>C | CA151155989 | SLC22A1 | c.659G>C (p.Gly220Ala) c.*132G>C (n.*132G>C) c.83G>C (p.Gly28Ala) | dbSNP |
| 6 | g.160132375G>T | CA4083773 | SLC22A1 | c.659G>T (p.Gly220Val) c.*132G>T (n.*132G>T) c.83G>T (p.Gly28Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160132375G= | CA1676920092 | SLC22A1 | c.659G= (p.Gly220=) c.*132G= (n.*132G=) c.83G= (p.Gly28=) | dbSNP |