| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.111911559G>T | CA476783337 | CRYAB | c.166C>A (p.Arg56=) n.478C>A n.410C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.111911559G>A | CA130927 | CRYAB | c.166C>T (p.Arg56Trp) n.478C>T n.410C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.111911559G= | CA2000482121 | CRYAB | c.166C= (p.Arg56=) n.478C= n.410C= | dbSNP |