| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128775556C>T | CA113829 | OPN1SW | c.226G>A (p.Gly76Arg) c.235G>A (p.Gly79Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128775556C= | CA1742521938 | OPN1SW | c.226G= (p.Gly76=) c.235G= (p.Gly79=) | dbSNP |
| 7 | g.128775556C>G | CA369222001 | OPN1SW | c.226G>C (p.Gly76Arg) c.235G>C (p.Gly79Arg) | dbSNP |