| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.150928186A>G | CA116829 | CLRN1 | c.449T>C (p.Leu150Pro) c.597T>C (n.597T>C) c.221T>C (p.Leu74Pro) c.488T>C (p.Leu163Pro) c.113T>C (p.Leu38Pro) c.104+13396T>C c.162+13396T>C c.*63T>C (n.*63T>C) n.930T>C n.761T>C n.658T>C | ClinVar dbSNP |
| 3 | g.150928186A= | CA1410883273 | CLRN1 | c.449T= (p.Leu150=) c.597T= (n.597T=) c.221T= (p.Leu74=) c.488T= (p.Leu163=) c.113T= (p.Leu38=) c.104+13396T= c.162+13396T= c.*63T= (n.*63T=) n.930T= n.761T= n.658T= | dbSNP |