| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165386881C>G | CA122769 | SCN2A | c.4687C>G (p.Leu1563Val) c.*3006C>G (n.*3006C>G) c.*2674C>G (n.*2674C>G) c.*5210C>G (n.*5210C>G) c.*2629C>G (n.*2629C>G) c.4291C>G (p.Leu1431Val) n.8118C>G c.4657C>G (p.Leu1553Val) c.3934C>G (p.Leu1312Val) c.2485C>G (p.Leu829Val) | ClinVar dbSNP |
| 2 | g.165386881C= | CA1304563787 | SCN2A | c.4687C= (p.Leu1563=) c.*3006C= (n.*3006C=) c.*2674C= (n.*2674C=) c.*5210C= (n.*5210C=) c.*2629C= (n.*2629C=) c.4291C= (p.Leu1431=) n.8118C= c.4657C= (p.Leu1553=) c.3934C= (p.Leu1312=) c.2485C= (p.Leu829=) | dbSNP |
| 2 | g.165386881C>T | CA429972638 | SCN2A | c.4687C>T (p.Leu1563=) c.*3006C>T (n.*3006C>T) c.*2674C>T (n.*2674C>T) c.*5210C>T (n.*5210C>T) c.*2629C>T (n.*2629C>T) c.4291C>T (p.Leu1431=) n.8118C>T c.4657C>T (p.Leu1553=) c.3934C>T (p.Leu1312=) c.2485C>T (p.Leu829=) | dbSNP |