| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.123370912G>C | CA10575685 | CRB2 | c.1859G>C (p.Cys620Ser) c.863G>C (p.Cys288Ser) n.973G>C c.1664G>C (p.Cys555Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.123370912G>T | CA374864192 | CRB2 | c.1859G>T (p.Cys620Phe) c.863G>T (p.Cys288Phe) n.973G>T c.1664G>T (p.Cys555Phe) | dbSNP |
| 9 | g.123370912G>A | CA374864191 | CRB2 | c.1859G>A (p.Cys620Tyr) c.863G>A (p.Cys288Tyr) n.973G>A c.1664G>A (p.Cys555Tyr) | dbSNP |