| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43172104C>A | CA410605796 | CRYAA | c.346C>A (p.Arg116Ser) c.235C>A (p.Arg79Ser) c.286C>A (p.Arg96Ser) n.447C>A n.427C>A | ClinVar dbSNP |
| 21 | g.43172104C>T | CA214969 | CRYAA | c.346C>T (p.Arg116Cys) c.235C>T (p.Arg79Cys) c.286C>T (p.Arg96Cys) n.447C>T n.427C>T | ClinVar dbSNP |
| 21 | g.43172104C= | CA2391131612 | CRYAA | c.346C= (p.Arg116=) c.235C= (p.Arg79=) c.286C= (p.Arg96=) n.447C= n.427C= | dbSNP |