| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.208128226G>A | CA210560 | CRYGC | c.502C>T (p.Arg168Trp) n.98-8830G>A c.373C>T (p.Arg125Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.208128226G>C | CA350093737 | CRYGC | c.502C>G (p.Arg168Gly) n.98-8830G>C c.373C>G (p.Arg125Gly) | dbSNP gnomAD v4 |
| 2 | g.208128226G= | CA1323930827 | CRYGC | c.502C= (p.Arg168=) n.98-8830G= c.373C= (p.Arg125=) | dbSNP |