| 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 |
| 20 | g.63413534C>A | CA409643815 | KCNQ2 | c.1625G>T (p.Arg542Leu) c.1679G>T (p.Arg560Leu) c.1076G>T (p.Arg359Leu) c.1586G>T (p.Arg529Leu) c.1247G>T (p.Arg416Leu) c.1595G>T (p.Arg532Leu) c.1559G>T (p.Arg520Leu) c.287G>T (p.Arg96Leu) c.1676G>T (p.Arg559Leu) c.1649G>T (p.Arg550Leu) c.1553G>T (p.Arg518Leu) c.1160G>T (p.Arg387Leu) c.1622G>T (p.Arg541Leu) c.1556G>T (p.Arg519Leu) c.587G>T (p.Arg196Leu) | ClinVar dbSNP |
| 20 | g.63413534C= | CA2374777980 | KCNQ2 | c.1625G= (p.Arg542=) c.1679G= (p.Arg560=) c.1076G= (p.Arg359=) c.1586G= (p.Arg529=) c.1247G= (p.Arg416=) c.1595G= (p.Arg532=) c.1559G= (p.Arg520=) c.287G= (p.Arg96=) c.1676G= (p.Arg559=) c.1649G= (p.Arg550=) c.1553G= (p.Arg518=) c.1160G= (p.Arg387=) c.1622G= (p.Arg541=) c.1556G= (p.Arg519=) c.587G= (p.Arg196=) | dbSNP |