| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150952457C>T | CA004769 | KCNH2 | n.823G>A n.418G>A n.2358G>A c.1525G>A (p.Asp509Asn) c.505G>A (p.Asp169Asn) c.1177G>A (p.Asp393Asn) n.812G>A n.830G>A n.1748G>A c.1225G>A (p.Asp409Asn) c.1375G>A (p.Asp459Asn) c.1348G>A (p.Asp450Asn) | ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 7 | g.150952457C>G | CA369859523 | KCNH2 | n.823G>C n.418G>C n.2358G>C c.1525G>C (p.Asp509His) c.505G>C (p.Asp169His) c.1177G>C (p.Asp393His) n.812G>C n.830G>C n.1748G>C c.1225G>C (p.Asp409His) c.1375G>C (p.Asp459His) c.1348G>C (p.Asp450His) | dbSNP |
| 7 | g.150952457C= | CA1752411505 | KCNH2 | n.823G= n.418G= n.2358G= c.1525G= (p.Asp509=) c.505G= (p.Asp169=) c.1177G= (p.Asp393=) n.812G= n.830G= n.1748G= c.1225G= (p.Asp409=) c.1375G= (p.Asp459=) c.1348G= (p.Asp450=) | dbSNP |