| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165374700C>T | CA122768 | SCN2A | c.3988C>T (p.Leu1330Phe) c.*2307C>T (n.*2307C>T) c.*1975C>T (n.*1975C>T) c.*4511C>T (n.*4511C>T) c.*1930C>T (n.*1930C>T) c.3592C>T (p.Leu1198Phe) n.7056C>T c.3958C>T (p.Leu1320Phe) c.3235C>T (p.Leu1079Phe) c.1786C>T (p.Leu596Phe) | ClinVar dbSNP |
| 2 | g.165374700C= | CA1304559649 | SCN2A | c.3988C= (p.Leu1330=) c.*2307C= (n.*2307C=) c.*1975C= (n.*1975C=) c.*4511C= (n.*4511C=) c.*1930C= (n.*1930C=) c.3592C= (p.Leu1198=) n.7056C= c.3958C= (p.Leu1320=) c.3235C= (p.Leu1079=) c.1786C= (p.Leu596=) | dbSNP |