| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2585230T>C | CA026986 | KCNQ1 | c.771+1685T>C (n.771+1685T>C) c.588+1685T>C (n.588+1685T>C) c.1051T>C (p.Phe351Leu) c.670T>C (p.Phe224Leu) c.234+1685T>C (n.234+1685T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2585230T>G | CA379133668 | KCNQ1 | c.771+1685T>G (n.771+1685T>G) c.588+1685T>G (n.588+1685T>G) c.1051T>G (p.Phe351Val) c.670T>G (p.Phe224Val) c.234+1685T>G (n.234+1685T>G) | dbSNP |
| 11 | g.2585230T= | CA1948228868 | KCNQ1 | c.771+1685T= (n.771+1685T=) c.588+1685T= (n.588+1685T=) c.1051T= (p.Phe351=) c.670T= (p.Phe224=) c.234+1685T= (n.234+1685T=) | dbSNP |