| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.763932G>C | CA346979 | SLC52A3 | c.639C>G (p.Tyr213Ter) c.567+1276C>G (n.567+1276C>G) n.618+1276C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.763932G>A | CA9724712 | SLC52A3 | c.639C>T (p.Tyr213=) c.567+1276C>T (n.567+1276C>T) n.618+1276C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |