Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2572981G>A | CA008634 | KCNQ1 | c.655G>A (p.Gly219Arg) c.478-10454G>A (n.478-10454G>A) c.916G>A (p.Gly306Arg) c.535G>A (p.Gly179Arg) c.124-10454G>A (n.124-10454G>A) | ClinVar dbSNP |
11 | g.2572981G>C | CA008640 | KCNQ1 | c.655G>C (p.Gly219Arg) c.478-10454G>C (n.478-10454G>C) c.916G>C (p.Gly306Arg) c.535G>C (p.Gly179Arg) c.124-10454G>C (n.124-10454G>C) | ClinVar dbSNP |