| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166036371G>A | CA303458 | SCN1A | c.*1142C>T (n.*1142C>T) c.3106C>T (p.Gln1036Ter) c.3073C>T (p.Gln1025Ter) c.*599C>T (n.*599C>T) n.3358C>T c.3070C>T (p.Gln1024Ter) c.*2660C>T (n.*2660C>T) c.*1049C>T (n.*1049C>T) n.5579C>T c.3022C>T (p.Gln1008Ter) n.711G>A c.3103C>T (p.Gln1035Ter) n.3290C>T c.3019C>T (p.Gln1007Ter) c.664C>T (p.Gln222Ter) n.3478C>T n.3492C>T n.3464C>T n.3459C>T | ClinVar dbSNP |
| 2 | g.166036371G>T | CA1943009 | SCN1A | c.*1142C>A (n.*1142C>A) c.3106C>A (p.Gln1036Lys) c.3073C>A (p.Gln1025Lys) c.*599C>A (n.*599C>A) n.3358C>A c.3070C>A (p.Gln1024Lys) c.*2660C>A (n.*2660C>A) c.*1049C>A (n.*1049C>A) n.5579C>A c.3022C>A (p.Gln1008Lys) n.711G>T c.3103C>A (p.Gln1035Lys) n.3290C>A c.3019C>A (p.Gln1007Lys) c.664C>A (p.Gln222Lys) n.3478C>A n.3492C>A n.3464C>A n.3459C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |