| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27851392A>G | CA201867 | OCA2 | c.2328T>C (p.Ala776=) c.2256T>C (p.Ala752=) c.2394T>C (p.Ala798=) c.2370T>C (p.Ala790=) c.2352T>C (p.Ala784=) c.2322T>C (p.Ala774=) c.2280T>C (p.Ala760=) c.2187T>C (p.Ala729=) c.2199T>C (p.Ala733=) c.2268+19762T>C (n.2268+19762T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27851392A>C | CA488959020 | OCA2 | c.2328T>G (p.Ala776=) c.2256T>G (p.Ala752=) c.2394T>G (p.Ala798=) c.2370T>G (p.Ala790=) c.2352T>G (p.Ala784=) c.2322T>G (p.Ala774=) c.2280T>G (p.Ala760=) c.2187T>G (p.Ala729=) c.2199T>G (p.Ala733=) c.2268+19762T>G (n.2268+19762T>G) | dbSNP |
| 15 | g.27851392A= | CA2166351990 | OCA2 | c.2328T= (p.Ala776=) c.2256T= (p.Ala752=) c.2394T= (p.Ala798=) c.2370T= (p.Ala790=) c.2352T= (p.Ala784=) c.2322T= (p.Ala774=) c.2280T= (p.Ala760=) c.2187T= (p.Ala729=) c.2199T= (p.Ala733=) c.2268+19762T= (n.2268+19762T=) | dbSNP |