| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150948995G>A | CA006763 | KCNH2 | n.3286C>T c.2453C>T (p.Ser818Leu) c.1433C>T (p.Ser478Leu) c.2153C>T (p.Ser718Leu) c.2303C>T (p.Ser768Leu) c.2276C>T (p.Ser759Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150948995G= | CA1752432041 | KCNH2 | n.3286C= c.2453C= (p.Ser818=) c.1433C= (p.Ser478=) c.2153C= (p.Ser718=) c.2303C= (p.Ser768=) c.2276C= (p.Ser759=) | dbSNP |
| 7 | g.150948995G>C | CA369855233 | KCNH2 | n.3286C>G c.2453C>G (p.Ser818Trp) c.1433C>G (p.Ser478Trp) c.2153C>G (p.Ser718Trp) c.2303C>G (p.Ser768Trp) c.2276C>G (p.Ser759Trp) | ClinVar dbSNP COSMIC |