| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166226587A>C | CA340551 | SCN1A-AS1,SCN9A | c.4378T>G (p.Phe1460Val) c.4222T>G (p.Phe1408Val) c.4345T>G (p.Phe1449Val) n.612-21608A>C c.3991T>G (p.Phe1331Val) c.3634T>G (p.Phe1212Val) | ClinVar dbSNP |
| 2 | g.166226587A= | CA1304942592 | SCN1A-AS1,SCN9A | c.4378T= (p.Phe1460=) c.4222T= (p.Phe1408=) c.4345T= (p.Phe1449=) n.612-21608A= c.3991T= (p.Phe1331=) c.3634T= (p.Phe1212=) | dbSNP |
| 2 | g.166226587A>G | CA349061861 | SCN1A-AS1,SCN9A | c.4378T>C (p.Phe1460Leu) c.4222T>C (p.Phe1408Leu) c.4345T>C (p.Phe1449Leu) n.612-21608A>G c.3991T>C (p.Phe1331Leu) c.3634T>C (p.Phe1212Leu) | dbSNP gnomAD v4 |