| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165344666G>A | CA122770 | SCN2A | c.2674G>A (p.Val892Ile) c.*993G>A (n.*993G>A) c.*661G>A (n.*661G>A) c.*3197G>A (n.*3197G>A) c.*616G>A (n.*616G>A) c.2278G>A (p.Val760Ile) c.112G>A (p.Val38Ile) c.525G>A n.2817G>A c.2644G>A (p.Val882Ile) c.1921G>A (p.Val641Ile) c.472G>A (p.Val158Ile) | ClinVar dbSNP gnomAD v4 |
| 2 | g.165344666G= | CA1304545485 | SCN2A | c.2674G= (p.Val892=) c.*993G= (n.*993G=) c.*661G= (n.*661G=) c.*3197G= (n.*3197G=) c.*616G= (n.*616G=) c.2278G= (p.Val760=) c.112G= (p.Val38=) c.525G= n.2817G= c.2644G= (p.Val882=) c.1921G= (p.Val641=) c.472G= (p.Val158=) | dbSNP |
| 2 | g.165344666G>T | CA349014349 | SCN2A | c.2674G>T (p.Val892Phe) c.*993G>T (n.*993G>T) c.*661G>T (n.*661G>T) c.*3197G>T (n.*3197G>T) c.*616G>T (n.*616G>T) c.2278G>T (p.Val760Phe) c.112G>T (p.Val38Phe) c.525G>T n.2817G>T c.2644G>T (p.Val882Phe) c.1921G>T (p.Val641Phe) c.472G>T (p.Val158Phe) | ClinVar dbSNP |