| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160136611C>T | CA4083926 | SLC22A1 | c.1022C>T (p.Pro341Leu) c.*495C>T (n.*495C>T) c.446C>T (p.Pro149Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160136611C>G | CA4083927 | SLC22A1 | c.1022C>G (p.Pro341Arg) c.*495C>G (n.*495C>G) c.446C>G (p.Pro149Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |