Patient | Gene | Genetic variation | Source | Nucleotide variation | Amino acid mutation | Amino acid variation |
---|---|---|---|---|---|---|
1 | CD40LG | Hemizygote | Mother | c.424_436del | Frameshift mutation | p.E142Tfs*3 |
2 | CD40LG | Hemizygote | Mother | c.92_104del | Frameshift mutation | p.F31Lfs |
3 | CD40LG | Hemizygote | Spontaneous mutation | c.488del | Frameshift mutation | p.R165Dfs*26 |
4 | CD40LG | Hemizygote | Spontaneous mutation | c.761C > T | Missense mutation | p.T254M |
5 | CD40LG | Microdeletion | Mother | > 132 kb | - | - |
6 | CD40LG | Microdeletion | Mother | c.1978 + 1G > A | - | - |
7 | CD40LG | Hemizygote | Mother | c.598A > T | Nonsense mutation | p.R200* |