| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947477C>G | CA369852941 | KCNH2 | n.3836G>C c.3003G>C (p.Trp1001Cys) c.1983G>C (p.Trp661Cys) c.2703G>C (p.Trp901Cys) c.*83G>C (n.*83G>C) c.2853G>C (p.Trp951Cys) c.2826G>C (p.Trp942Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947477C>T | CA007783 | KCNH2 | n.3836G>A c.3003G>A (p.Trp1001Ter) c.1983G>A (p.Trp661Ter) c.2703G>A (p.Trp901Ter) c.*83G>A (n.*83G>A) c.2853G>A (p.Trp951Ter) c.2826G>A (p.Trp942Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947477C>A | CA369852940 | KCNH2 | n.3836G>T c.3003G>T (p.Trp1001Cys) c.1983G>T (p.Trp661Cys) c.2703G>T (p.Trp901Cys) c.*83G>T (n.*83G>T) c.2853G>T (p.Trp951Cys) c.2826G>T (p.Trp942Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947477C= | CA1752429416 | KCNH2 | n.3836G= c.3003G= (p.Trp1001=) c.1983G= (p.Trp661=) c.2703G= (p.Trp901=) c.*83G= (n.*83G=) c.2853G= (p.Trp951=) c.2826G= (p.Trp942=) | dbSNP |