| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27986615G>A | CA277110 | OCA2 | c.1211C>T (p.Thr404Met) c.1139C>T (p.Thr380Met) c.1235C>T (p.Thr412Met) c.1163C>T (p.Thr388Met) c.1097C>T (p.Thr366Met) n.2596C>T c.1040C>T (p.Thr347Met) n.1324C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.27986615G= | CA2166412647 | OCA2 | c.1211C= (p.Thr404=) c.1139C= (p.Thr380=) c.1235C= (p.Thr412=) c.1163C= (p.Thr388=) c.1097C= (p.Thr366=) n.2596C= c.1040C= (p.Thr347=) n.1324C= | dbSNP |