| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.136656377C>T | CA16621208 | CD40LG | c.310C>T (p.Arg104Trp) c.157-2662C>T (n.157-2662C>T) n.2336C>T n.3171C>T c.368C>T (p.Ala123Val) c.346+1947C>T (n.346+1947C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.136656377C>A | CA255756 | CD40LG | c.310C>A (p.Arg104=) c.157-2662C>A (n.157-2662C>A) n.2336C>A n.3171C>A c.368C>A (p.Ala123Glu) c.346+1947C>A (n.346+1947C>A) | ClinVar dbSNP |