Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2778024G>C | CA006395 | KCNQ1 | c.1424G>C (p.Arg475Pro) c.1241G>C (p.Arg414Pro) c.1781G>C (p.Arg594Pro) c.1400G>C (p.Arg467Pro) c.185G>C (p.Arg62Pro) c.887G>C (p.Arg296Pro) n.288G>C | ClinVar dbSNP gnomAD v4 |
11 | g.2778024G>A | CA006388 | KCNQ1 | c.1424G>A (p.Arg475Gln) c.1241G>A (p.Arg414Gln) c.1781G>A (p.Arg594Gln) c.1400G>A (p.Arg467Gln) c.185G>A (p.Arg62Gln) c.887G>A (p.Arg296Gln) n.288G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |