| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2585302A>T | CA005336 | KCNQ1 | c.771+1757A>T (n.771+1757A>T) c.588+1757A>T (n.588+1757A>T) c.1123A>T (p.Ile375Phe) c.742A>T (p.Ile248Phe) c.234+1757A>T (n.234+1757A>T) | ClinVar dbSNP |
| 11 | g.2585302A>G | CA216330148 | KCNQ1 | c.771+1757A>G (n.771+1757A>G) c.588+1757A>G (n.588+1757A>G) c.1123A>G (p.Ile375Val) c.742A>G (p.Ile248Val) c.234+1757A>G (n.234+1757A>G) | dbSNP |