| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63442415C>T | CA315395 | KCNQ2 | c.807G>A (p.Trp269Ter) n.545G>A c.288G>A (p.Trp96Ter) c.465G>A (p.Trp155Ter) n.933G>A c.172G>A c.228G>A (p.Trp76Ter) n.632G>A c.690+2244G>A (n.690+2244G>A) c.738G>A (p.Trp246Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63442415C>A | CA409653355 | KCNQ2 | c.807G>T (p.Trp269Cys) n.545G>T c.288G>T (p.Trp96Cys) c.465G>T (p.Trp155Cys) n.933G>T c.172G>T c.228G>T (p.Trp76Cys) n.632G>T c.690+2244G>T (n.690+2244G>T) c.738G>T (p.Trp246Cys) | ClinVar dbSNP |
| 20 | g.63442415C= | CA2374793476 | KCNQ2 | c.807G= (p.Trp269=) n.545G= c.288G= (p.Trp96=) c.465G= (p.Trp155=) n.933G= c.172G= c.228G= (p.Trp76=) n.632G= c.690+2244G= (n.690+2244G=) c.738G= (p.Trp246=) | dbSNP |
| 20 | g.63442415C>G | CA409653357 | KCNQ2 | c.807G>C (p.Trp269Cys) n.545G>C c.288G>C (p.Trp96Cys) c.465G>C (p.Trp155Cys) n.933G>C c.172G>C c.228G>C (p.Trp76Cys) n.632G>C c.690+2244G>C (n.690+2244G>C) c.738G>C (p.Trp246Cys) | dbSNP |