Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63413534C>G | CA409643820 | KCNQ2 | c.1625G>C (p.Arg542Pro) c.1679G>C (p.Arg560Pro) c.1076G>C (p.Arg359Pro) c.1586G>C (p.Arg529Pro) c.1247G>C (p.Arg416Pro) c.1595G>C (p.Arg532Pro) c.1559G>C (p.Arg520Pro) c.287G>C (p.Arg96Pro) c.1676G>C (p.Arg559Pro) c.1649G>C (p.Arg550Pro) c.1553G>C (p.Arg518Pro) c.1160G>C (p.Arg387Pro) c.1622G>C (p.Arg541Pro) c.1556G>C (p.Arg519Pro) c.587G>C (p.Arg196Pro) | ClinVar dbSNP |
20 | g.63413534C>T | CA16043113 | KCNQ2 | c.1625G>A (p.Arg542Gln) c.1679G>A (p.Arg560Gln) c.1076G>A (p.Arg359Gln) c.1586G>A (p.Arg529Gln) c.1247G>A (p.Arg416Gln) c.1595G>A (p.Arg532Gln) c.1559G>A (p.Arg520Gln) c.287G>A (p.Arg96Gln) c.1676G>A (p.Arg559Gln) c.1649G>A (p.Arg550Gln) c.1553G>A (p.Arg518Gln) c.1160G>A (p.Arg387Gln) c.1622G>A (p.Arg541Gln) c.1556G>A (p.Arg519Gln) c.587G>A (p.Arg196Gln) | ClinVar dbSNP gnomAD v4 |