Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2572102A>C | CA008159 | KCNQ1 | c.512A>C (p.His171Pro) c.478-11333A>C (n.478-11333A>C) c.773A>C (p.His258Pro) c.392A>C (p.His131Pro) c.124-11333A>C (n.124-11333A>C) | ClinVar dbSNP |
11 | g.2572102A>G | CA008167 | KCNQ1 | c.512A>G (p.His171Arg) c.478-11333A>G (n.478-11333A>G) c.773A>G (p.His258Arg) c.392A>G (p.His131Arg) c.124-11333A>G (n.124-11333A>G) | ClinVar dbSNP |