| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947493T>A | CA007728 | KCNH2 | n.3820A>T c.2987A>T (p.Asn996Ile) c.1967A>T (p.Asn656Ile) c.2687A>T (p.Asn896Ile) c.*67A>T (n.*67A>T) c.2837A>T (p.Asn946Ile) c.2810A>T (p.Asn937Ile) | ClinVar dbSNP |
| 7 | g.150947493T>C | CA369852979 | KCNH2 | n.3820A>G c.2987A>G (p.Asn996Ser) c.1967A>G (p.Asn656Ser) c.2687A>G (p.Asn896Ser) c.*67A>G (n.*67A>G) c.2837A>G (p.Asn946Ser) c.2810A>G (p.Asn937Ser) | ClinVar dbSNP |