Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2583453G>A | CA008773 | KCNQ1 | c.679G>A (p.Gly227Ser) c.496G>A (p.Gly166Ser) c.940G>A (p.Gly314Ser) c.559G>A (p.Gly187Ser) c.142G>A (p.Gly48Ser) | ClinVar dbSNP |
11 | g.2583453G>C | CA008777 | KCNQ1 | c.679G>C (p.Gly227Arg) c.496G>C (p.Gly166Arg) c.940G>C (p.Gly314Arg) c.559G>C (p.Gly187Arg) c.142G>C (p.Gly48Arg) | ClinVar dbSNP |
11 | g.2583453G>T | CA008786 | KCNQ1 | c.679G>T (p.Gly227Cys) c.496G>T (p.Gly166Cys) c.940G>T (p.Gly314Cys) c.559G>T (p.Gly187Cys) c.142G>T (p.Gly48Cys) | ClinVar dbSNP |