| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132175461A>G | CA342042 | KCNQ3 | c.925T>C (p.Trp309Arg) c.565T>C (p.Trp189Arg) c.598T>C (p.Trp200Arg) c.575T>C n.703T>C c.562T>C (p.Trp188Arg) c.-232T>C (n.-232T>C) c.217T>C (p.Trp73Arg) c.703T>C (p.Trp235Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132175461A= | CA1820664513 | KCNQ3 | c.925T= (p.Trp309=) c.565T= (p.Trp189=) c.598T= (p.Trp200=) c.575T= n.703T= c.562T= (p.Trp188=) c.-232T= (n.-232T=) c.217T= (p.Trp73=) c.703T= (p.Trp235=) | dbSNP |