| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27926169C>A | CA391361073 | OCA2 | c.2037G>T (p.Trp679Cys) c.1965G>T (p.Trp655Cys) c.2061G>T (p.Trp687Cys) c.1989G>T (p.Trp663Cys) c.1923G>T (p.Trp641Cys) c.1866G>T (p.Trp622Cys) | dbSNP |
| 15 | g.27926169C>G | CA251639 | OCA2 | c.2037G>C (p.Trp679Cys) c.1965G>C (p.Trp655Cys) c.2061G>C (p.Trp687Cys) c.1989G>C (p.Trp663Cys) c.1923G>C (p.Trp641Cys) c.1866G>C (p.Trp622Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926169C= | CA2166365069 | OCA2 | c.2037G= (p.Trp679=) c.1965G= (p.Trp655=) c.2061G= (p.Trp687=) c.1989G= (p.Trp663=) c.1923G= (p.Trp641=) c.1866G= (p.Trp622=) | dbSNP |