| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572081T>A | CA379131020 | KCNQ1 | c.491T>A (p.Leu164Gln) c.478-11354T>A (n.478-11354T>A) c.752T>A (p.Leu251Gln) c.371T>A (p.Leu124Gln) c.124-11354T>A (n.124-11354T>A) | ClinVar dbSNP |
| 11 | g.2572081T>C | CA008083 | KCNQ1 | c.491T>C (p.Leu164Pro) c.478-11354T>C (n.478-11354T>C) c.752T>C (p.Leu251Pro) c.371T>C (p.Leu124Pro) c.124-11354T>C (n.124-11354T>C) | ClinVar dbSNP |
| 11 | g.2572081T= | CA1948242729 | KCNQ1 | c.491T= (p.Leu164=) c.478-11354T= (n.478-11354T=) c.752T= (p.Leu251=) c.371T= (p.Leu124=) c.124-11354T= (n.124-11354T=) | dbSNP |