From: Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia
Patient | Exon/Intron | Mutation | Protein domain | Protein alteration | Mother status |
---|---|---|---|---|---|
1 | Exon 18 | c.1770delG | SH1 | p.Gly594fsX54 | N.D. |
2 | Exon 14 | c.1249A > T* | SH2 | p.Lys417X | N.D. |
Exon 18 | c.1899C > T** | SH1 | |||
3 | Exon 17 | c.1742delG* | SH1 | p.Ala582LeufsX4 | Carrier |
4 | Exon 6 | c.441G > A | TH | p.Trp147X | N.D. |