Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.208124255G>T | CA214962 | CRYGD | c.109C>A (p.Arg37Ser) n.97+5030G>T | ClinVar dbSNP |
2 | g.208124255G>A | CA64607815 | CRYGD | c.109C>T (p.Arg37Cys) n.97+5030G>A | dbSNP gnomAD v4 |
2 | g.208124255G>C | CA350092757 | CRYGD | c.109C>G (p.Arg37Gly) n.97+5030G>C | dbSNP |