| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2585255A>C | CA379133762 | KCNQ1 | c.771+1710A>C (n.771+1710A>C) c.588+1710A>C (n.588+1710A>C) c.1076A>C (p.Gln359Pro) c.695A>C (p.Gln232Pro) c.234+1710A>C (n.234+1710A>C) | ClinVar dbSNP |
| 11 | g.2585255A= | CA1948228970 | KCNQ1 | c.771+1710A= (n.771+1710A=) c.588+1710A= (n.588+1710A=) c.1076A= (p.Gln359=) c.695A= (p.Gln232=) c.234+1710A= (n.234+1710A=) | dbSNP |