| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27871191G>A | CA242025 | OCA2 | c.2207C>T (p.Ser736Leu) c.2135C>T (p.Ser712Leu) c.2231C>T (p.Ser744Leu) c.2159C>T (p.Ser720Leu) c.2093C>T (p.Ser698Leu) c.2104-19716C>T (n.2104-19716C>T) c.2036C>T (p.Ser679Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.27871191G= | CA2166360940 | OCA2 | c.2207C= (p.Ser736=) c.2135C= (p.Ser712=) c.2231C= (p.Ser744=) c.2159C= (p.Ser720=) c.2093C= (p.Ser698=) c.2104-19716C= (n.2104-19716C=) c.2036C= (p.Ser679=) | dbSNP |