Table 1.
Known common variable immunodeficiency (CVID) variants detected in CVID patients in this study.
| Gene | cDNA | Aa change | Genotypea (reference) | hg19_pos | CVID (N = 36)b | Controls (literature) | Controls (Autism, N = 36)b | Controls (Spain, N = 267)b |
|---|---|---|---|---|---|---|---|---|
| TNFRSF13B | c.752C > T | p.P251L | 0/1 (10) | 17:16842991 | 9 | Yes | 0 | 36 (3) |
| TNFRSF13B | c.310T > C | p.C104R | */1 (45) | 17:16852187 | 3 (1) | Yes | 0 | 2 |
| TNFRSF13C | c.62G > C | p.P21R | 2*0/1 (46) | 22:42322716 | 4 | Yes | 0 | 16c |
| MSH5 | c.253C > T | p.L85F | 2*0/1 (47) | 6:31709045 | 2 | Yes | 0 | 55 (2) |
a0/1 heterozygotes; 1/1 homozygotes; */1 heterozygotes and homozygotes; 2*0/1 compound heterozygotes.
bHomozygous individuals are shown in brackets.
cNo data available for the 267 controls. Instead, we used data from 578 whole-exome sequences at the CIBERER Spanish Variant Server (csvs.babelomics.org).