| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439657C>T | CA10654811 | KCNQ2 | c.868G>A (p.Gly290Ser) n.606G>A c.349G>A (p.Gly117Ser) c.526G>A (p.Gly176Ser) n.994G>A c.233G>A c.12G>A c.371G>A (p.Arg124Gln) n.693G>A c.742G>A (p.Gly248Ser) c.799G>A (p.Gly267Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63439657C= | CA2374791956 | KCNQ2 | c.868G= (p.Gly290=) n.606G= c.349G= (p.Gly117=) c.526G= (p.Gly176=) n.994G= c.233G= c.12G= c.371G= (p.Arg124=) n.693G= c.742G= (p.Gly248=) c.799G= (p.Gly267=) | dbSNP |
| 20 | g.63439657C>A | CA409652614 | KCNQ2 | c.868G>T (p.Gly290Cys) n.606G>T c.349G>T (p.Gly117Cys) c.526G>T (p.Gly176Cys) n.994G>T c.233G>T c.12G>T c.371G>T (p.Arg124Leu) n.693G>T c.742G>T (p.Gly248Cys) c.799G>T (p.Gly267Cys) | ClinVar dbSNP |