| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132175472T>C | CA342041 | KCNQ3 | c.914A>G (p.Asp305Gly) c.554A>G (p.Asp185Gly) c.587A>G (p.Asp196Gly) c.564A>G n.692A>G c.551A>G (p.Asp184Gly) c.-243A>G (n.-243A>G) c.206A>G (p.Asp69Gly) c.692A>G (p.Asp231Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132175472T>A | CA372290330 | KCNQ3 | c.914A>T (p.Asp305Val) c.554A>T (p.Asp185Val) c.587A>T (p.Asp196Val) c.564A>T n.692A>T c.551A>T (p.Asp184Val) c.-243A>T (n.-243A>T) c.206A>T (p.Asp69Val) c.692A>T (p.Asp231Val) | ClinVar dbSNP |