| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150948861G>A | CA033069 | KCNH2 | n.3420C>T c.2587C>T (p.Arg863Ter) c.1567C>T (p.Arg523Ter) c.2287C>T (p.Arg763Ter) c.2437C>T (p.Arg813Ter) c.2410C>T (p.Arg804Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.150948861G= | CA1752431815 | KCNH2 | n.3420C= c.2587C= (p.Arg863=) c.1567C= (p.Arg523=) c.2287C= (p.Arg763=) c.2437C= (p.Arg813=) c.2410C= (p.Arg804=) | dbSNP |
| 7 | g.150948861G>T | CA458645112 | KCNH2 | n.3420C>A c.2587C>A (p.Arg863=) c.1567C>A (p.Arg523=) c.2287C>A (p.Arg763=) c.2437C>A (p.Arg813=) c.2410C>A (p.Arg804=) | ClinVar dbSNP |