| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.150928174A>C | CA2666033 | CLRN1 | c.461T>G (p.Leu154Trp) c.609T>G (n.609T>G) c.233T>G (p.Leu78Trp) c.500T>G (p.Leu167Trp) c.104+13408T>G c.162+13408T>G c.*75T>G (n.*75T>G) n.942T>G n.773T>G n.670T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.150928174A= | CA1410883266 | CLRN1 | c.461T= (p.Leu154=) c.609T= (n.609T=) c.233T= (p.Leu78=) c.500T= (p.Leu167=) c.104+13408T= c.162+13408T= c.*75T= (n.*75T=) n.942T= n.773T= n.670T= | dbSNP |