| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33129971C>T | CA117150 | CRTAP | c.826C>T (p.Gln276Ter) c.794-2584C>T (n.794-2584C>T) n.420C>T c.676C>T (p.Gln226Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33129971C= | CA1356036795 | CRTAP | c.826C= (p.Gln276=) c.794-2584C= (n.794-2584C=) n.420C= c.676C= (p.Gln226=) | dbSNP |