| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63428380C>A | CA16620966 | KCNQ2 | c.1204G>T (p.Gly402Ter) n.87G>T c.655G>T (p.Gly219Ter) n.43G>T c.862G>T (p.Gly288Ter) c.1174G>T (p.Gly392Ter) n.1330G>T c.318G>T c.1078G>T (p.Gly360Ter) c.685G>T (p.Gly229Ter) c.1135G>T (p.Gly379Ter) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63428380C>T | CA409649783 | KCNQ2 | c.1204G>A (p.Gly402Arg) n.87G>A c.655G>A (p.Gly219Arg) n.43G>A c.862G>A (p.Gly288Arg) c.1174G>A (p.Gly392Arg) n.1330G>A c.318G>A c.1078G>A (p.Gly360Arg) c.685G>A (p.Gly229Arg) c.1135G>A (p.Gly379Arg) | ClinVar dbSNP |
| 20 | g.63428380C= | CA2374785580 | KCNQ2 | c.1204G= (p.Gly402=) n.87G= c.655G= (p.Gly219=) n.43G= c.862G= (p.Gly288=) c.1174G= (p.Gly392=) n.1330G= c.318G= c.1078G= (p.Gly360=) c.685G= (p.Gly229=) c.1135G= (p.Gly379=) | dbSNP |