| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27871170G>A | CA251635 | OCA2 | c.2228C>T (p.Pro743Leu) c.2156C>T (p.Pro719Leu) c.2252C>T (p.Pro751Leu) c.2180C>T (p.Pro727Leu) c.2114C>T (p.Pro705Leu) c.2104-19695C>T (n.2104-19695C>T) c.2057C>T (p.Pro686Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27871170G>C | CA391363353 | OCA2 | c.2228C>G (p.Pro743Arg) c.2156C>G (p.Pro719Arg) c.2252C>G (p.Pro751Arg) c.2180C>G (p.Pro727Arg) c.2114C>G (p.Pro705Arg) c.2104-19695C>G (n.2104-19695C>G) c.2057C>G (p.Pro686Arg) | dbSNP gnomAD v4 |
| 15 | g.27871170G= | CA2166360926 | OCA2 | c.2228C= (p.Pro743=) c.2156C= (p.Pro719=) c.2252C= (p.Pro751=) c.2180C= (p.Pro727=) c.2114C= (p.Pro705=) c.2104-19695C= (n.2104-19695C=) c.2057C= (p.Pro686=) | dbSNP |