Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2777002G>C | CA379139292 | KCNQ1 | c.1345G>C (p.Gly449Arg) c.1162G>C (p.Gly388Arg) c.1702G>C (p.Gly568Arg) c.1321G>C (p.Gly441Arg) c.808G>C (p.Gly270Arg) | ClinVar dbSNP |
11 | g.2777002G>A | CA006232 | KCNQ1 | c.1345G>A (p.Gly449Arg) c.1162G>A (p.Gly388Arg) c.1702G>A (p.Gly568Arg) c.1321G>A (p.Gly441Arg) c.808G>A (p.Gly270Arg) | ClinVar dbSNP gnomAD v4 |