| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.136659049G>A | CA336267402 | CD40LG | c.*38G>A (n.*38G>A) c.167G>A (p.Gly56Glu) n.2388G>A n.3223G>A c.420G>A (p.Trp140Ter) c.357G>A (p.Trp119Ter) | dbSNP |
| X | g.136659049G= | CA2460412773 | CD40LG | c.*38G= (n.*38G=) c.167G= (p.Gly56=) n.2388G= n.3223G= c.420G= (p.Trp140=) c.357G= (p.Trp119=) | dbSNP |
| X | g.136659049G>C | CA414755573 | CD40LG | c.*38G>C (n.*38G>C) c.167G>C (p.Gly56Ala) n.2388G>C n.3223G>C c.420G>C (p.Trp140Cys) c.357G>C (p.Trp119Cys) | ClinVar dbSNP |