| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165386974T>C | CA16042354 | SCN2A | c.4780T>C (p.Trp1594Arg) c.*3099T>C (n.*3099T>C) c.*2767T>C (n.*2767T>C) c.*5303T>C (n.*5303T>C) c.*2722T>C (n.*2722T>C) c.4384T>C (p.Trp1462Arg) n.8211T>C c.4750T>C (p.Trp1584Arg) c.4027T>C (p.Trp1343Arg) c.2578T>C (p.Trp860Arg) | ClinVar dbSNP |
| 2 | g.165386974T= | CA1304563823 | SCN2A | c.4780T= (p.Trp1594=) c.*3099T= (n.*3099T=) c.*2767T= (n.*2767T=) c.*5303T= (n.*5303T=) c.*2722T= (n.*2722T=) c.4384T= (p.Trp1462=) n.8211T= c.4750T= (p.Trp1584=) c.4027T= (p.Trp1343=) c.2578T= (p.Trp860=) | dbSNP |