| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63442479A>G | CA16043147 | KCNQ2 | c.743T>C (p.Phe248Ser) n.481T>C c.224T>C (p.Phe75Ser) n.123T>C c.401T>C (p.Phe134Ser) n.869T>C c.108T>C c.164T>C (p.Phe55Ser) n.568T>C c.690+2180T>C (n.690+2180T>C) c.674T>C (p.Phe225Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63442479A= | CA2374793518 | KCNQ2 | c.743T= (p.Phe248=) n.481T= c.224T= (p.Phe75=) n.123T= c.401T= (p.Phe134=) n.869T= c.108T= c.164T= (p.Phe55=) n.568T= c.690+2180T= (n.690+2180T=) c.674T= (p.Phe225=) | dbSNP |