| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63433854G>A | CA10654796 | KCNQ2 | c.1073C>T (p.Ser358Phe) n.811C>T c.554C>T (p.Ser185Phe) n.23C>T c.731C>T (p.Ser244Phe) n.1199C>T n.424C>T c.217C>T c.546C>T (n.546C>T) c.947C>T (p.Ser316Phe) c.1004C>T (p.Ser335Phe) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63433854G= | CA2374788911 | KCNQ2 | c.1073C= (p.Ser358=) n.811C= c.554C= (p.Ser185=) n.23C= c.731C= (p.Ser244=) n.1199C= n.424C= c.217C= c.546C= (n.546C=) c.947C= (p.Ser316=) c.1004C= (p.Ser335=) | dbSNP |