| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2585257A>G | CA005181 | KCNQ1 | c.771+1712A>G (n.771+1712A>G) c.588+1712A>G (n.588+1712A>G) c.1078A>G (p.Arg360Gly) c.697A>G (p.Arg233Gly) c.234+1712A>G (n.234+1712A>G) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.2585257A>T | CA005188 | KCNQ1 | c.771+1712A>T (n.771+1712A>T) c.588+1712A>T (n.588+1712A>T) c.1078A>T (p.Arg360Trp) c.697A>T (p.Arg233Trp) c.234+1712A>T (n.234+1712A>T) | ClinVar dbSNP |