Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2572087C>G | CA10575752 | KCNQ1 | c.497C>G (p.Ser166Cys) c.478-11348C>G (n.478-11348C>G) c.758C>G (p.Ser253Cys) c.377C>G (p.Ser126Cys) c.124-11348C>G (n.124-11348C>G) | ClinVar dbSNP |
11 | g.2572087C>T | CA008099 | KCNQ1 | c.497C>T (p.Ser166Phe) c.478-11348C>T (n.478-11348C>T) c.758C>T (p.Ser253Phe) c.377C>T (p.Ser126Phe) c.124-11348C>T (n.124-11348C>T) | ClinVar dbSNP |