| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.123371070A>C | CA185952 | CRB2 | c.1928A>C (p.Glu643Ala) c.932A>C (p.Glu311Ala) n.1042A>C c.1733A>C (p.Glu578Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123371070A= | CA1877935115 | CRB2 | c.1928A= (p.Glu643=) c.932A= (p.Glu311=) n.1042A= c.1733A= (p.Glu578=) | dbSNP |