Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2585275C>T | CA005255 | KCNQ1 | c.771+1730C>T (n.771+1730C>T) c.588+1730C>T (n.588+1730C>T) c.1096C>T (p.Arg366Trp) c.715C>T (p.Arg239Trp) c.234+1730C>T (n.234+1730C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2585275C>A | CA472038504 | KCNQ1 | c.771+1730C>A (n.771+1730C>A) c.588+1730C>A (n.588+1730C>A) c.1096C>A (p.Arg366=) c.715C>A (p.Arg239=) c.234+1730C>A (n.234+1730C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |