| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.150941647G>T | CA142688 | CLRN1 | c.368C>A (p.Ala123Asp) c.516C>A (p.Cys172Ter) c.360C>A (n.360C>A) c.140C>A (p.Ala47Asp) n.374C>A c.32C>A (p.Ala11Asp) c.39C>A c.97C>A c.540C>A (p.Cys180Ter) n.810C>A n.680C>A n.538C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.150941647G= | CA1410888493 | CLRN1 | c.368C= (p.Ala123=) c.516C= (p.Cys172=) c.360C= (n.360C=) c.140C= (p.Ala47=) n.374C= c.32C= (p.Ala11=) c.39C= c.97C= c.540C= (p.Cys180=) n.810C= n.680C= n.538C= | dbSNP |