| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124403847G>A | CA113975 | OAT | c.722C>T (p.Pro241Leu) n.523C>T n.568C>T c.308C>T (p.Pro103Leu) c.401C>T (p.Pro134Leu) c.122C>T (p.Pro41Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124403847G>C | CA215248715 | OAT | c.722C>G (p.Pro241Arg) n.523C>G n.568C>G c.308C>G (p.Pro103Arg) c.401C>G (p.Pro134Arg) c.122C>G (p.Pro41Arg) | dbSNP |