| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.210804121T>C | CA215049 | KCNH1 | c.1508A>G (p.Gln503Arg) c.1427A>G (p.Gln476Arg) c.841A>G c.356A>G (p.Gln119Arg) c.*13A>G (n.*13A>G) c.311-28577A>G (n.311-28577A>G) c.332A>G (p.Gln111Arg) | ClinVar dbSNP |
| 1 | g.210804121T= | CA1148224957 | KCNH1 | c.1508A= (p.Gln503=) c.1427A= (p.Gln476=) c.841A= c.356A= (p.Gln119=) c.*13A= (n.*13A=) c.311-28577A= (n.311-28577A=) c.332A= (p.Gln111=) | dbSNP |