| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38275988C>T | CA2317155 | SLC22A13 | c.1129C>T (p.Arg377Cys) c.929C>T (n.929C>T) c.430C>T (p.Arg144Cys) c.418C>T (p.Arg140Cys) n.1178C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38275988C= | CA1358437332 | SLC22A13 | c.1129C= (p.Arg377=) c.929C= (n.929C=) c.430C= (p.Arg144=) c.418C= (p.Arg140=) n.1178C= | dbSNP |