| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64599858T>G | CA116316 | SLC22A12 | c.1253T>G (p.Leu418Arg) c.1151T>G (p.Leu384Arg) c.929T>G (p.Leu310Arg) c.590T>G (p.Leu197Arg) c.1328T>G (p.Leu443Arg) c.1223T>G (p.Leu408Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64599858T>C | CA6077359 | SLC22A12 | c.1253T>C (p.Leu418Pro) c.1151T>C (p.Leu384Pro) c.929T>C (p.Leu310Pro) c.590T>C (p.Leu197Pro) c.1328T>C (p.Leu443Pro) c.1223T>C (p.Leu408Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |