| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132174295G>A | CA342043 | KCNQ3 | c.988C>T (p.Arg330Cys) c.628C>T (p.Arg210Cys) c.661C>T (p.Arg221Cys) c.638C>T n.766C>T c.625C>T (p.Arg209Cys) c.-169C>T (n.-169C>T) c.280C>T (p.Arg94Cys) c.766C>T (p.Arg256Cys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132174295G= | CA1820664030 | KCNQ3 | c.988C= (p.Arg330=) c.628C= (p.Arg210=) c.661C= (p.Arg221=) c.638C= n.766C= c.625C= (p.Arg209=) c.-169C= (n.-169C=) c.280C= (p.Arg94=) c.766C= (p.Arg256=) | dbSNP |
| 8 | g.132174295G>C | CA372290156 | KCNQ3 | c.988C>G (p.Arg330Gly) c.628C>G (p.Arg210Gly) c.661C>G (p.Arg221Gly) c.638C>G n.766C>G c.625C>G (p.Arg209Gly) c.-169C>G (n.-169C>G) c.280C>G (p.Arg94Gly) c.766C>G (p.Arg256Gly) | dbSNP |