| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.132370108C>T | CA312966 | SLC22A5 | c.136C>T (p.Pro46Ser) n.270C>T n.405C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.132370108C>G | CA342616 | SLC22A5 | c.136C>G (p.Pro46Ala) n.270C>G n.405C>G | ClinVar dbSNP |
| 5 | g.132370108C= | CA1583137672 | SLC22A5 | c.136C= (p.Pro46=) n.270C= n.405C= | dbSNP |