| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.172665910C>A | CA1247609 | FASLG | c.740C>A (p.Ala247Glu) c.*310C>A (n.*310C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.172665910C>T | CA343806531 | FASLG | c.740C>T (p.Ala247Val) c.*310C>T (n.*310C>T) | dbSNP gnomAD v4 |
| 1 | g.172665910C= | CA1141189175 | FASLG | c.740C= (p.Ala247=) c.*310C= (n.*310C=) | dbSNP |