| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.123370950C>G | CA374864274 | CRB2 | c.1897C>G (p.Arg633Gly) c.901C>G (p.Arg301Gly) n.1011C>G c.1702C>G (p.Arg568Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.123370950C>T | CA185953 | CRB2 | c.1897C>T (p.Arg633Trp) c.901C>T (p.Arg301Trp) n.1011C>T c.1702C>T (p.Arg568Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.123370950C= | CA1877934904 | CRB2 | c.1897C= (p.Arg633=) c.901C= (p.Arg301=) n.1011C= c.1702C= (p.Arg568=) | dbSNP |