| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150949034A>G | CA006704 | KCNH2 | n.3247T>C c.2414T>C (p.Phe805Ser) c.1394T>C (p.Phe465Ser) c.2114T>C (p.Phe705Ser) c.2264T>C (p.Phe755Ser) c.2237T>C (p.Phe746Ser) | ClinVar dbSNP |
| 7 | g.150949034A>C | CA006712 | KCNH2 | n.3247T>G c.2414T>G (p.Phe805Cys) c.1394T>G (p.Phe465Cys) c.2114T>G (p.Phe705Cys) c.2264T>G (p.Phe755Cys) c.2237T>G (p.Phe746Cys) | ClinVar dbSNP |
| 7 | g.150949034A= | CA1752432085 | KCNH2 | n.3247T= c.2414T= (p.Phe805=) c.1394T= (p.Phe465=) c.2114T= (p.Phe705=) c.2264T= (p.Phe755=) c.2237T= (p.Phe746=) | dbSNP |