| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128774545A>C | CA4472893 | OPN1SW | c.631T>G (p.Ser211Ala) c.640T>G (p.Ser214Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128774545A>G | CA113830 | OPN1SW | c.631T>C (p.Ser211Pro) c.640T>C (p.Ser214Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128774545A= | CA1742520220 | OPN1SW | c.631T= (p.Ser211=) c.640T= (p.Ser214=) | dbSNP |
| 7 | g.128774545A>T | CA369218469 | OPN1SW | c.631T>A (p.Ser211Thr) c.640T>A (p.Ser214Thr) | dbSNP gnomAD v4 |