Table 2.
Mutations likely associated with CVID in the three cases.
| Case | Gene | dbSNP ID | mRNA Refseq | Coding change | Protein change | Functional effect | ExAC | SIFT/PolyPhen/ MutationTaster/CAD D ∗ |
|---|---|---|---|---|---|---|---|---|
| 1 | LRBA | rs200809013 | NM_006726 | c.8436G>C | p.K2812N | missense | 0.001 | T/P/D/25.2 |
| - | NM_006726 | c.4089A>T | p.Q1363H | missense | - | D/P/D/27.0 | ||
| TNFRSF13B | rs146436713 | NM_012452 | c.226G>A | p.G76S | missense | 0.0002 | D/D/D/28.6 | |
| 2 | LRBA | rs191899647 | NM_006726 | c.3764G>C | p.R1255T | missense | 0.00005789 | D/B/D/15.06 |
| 3 | NFKB1 | - | NM_003998 | c.666dupG | p.P222fs | frameshift | - | - |
| insertion | ||||||||
| LRBA | rs200935054 | NM_006726 | c.5084T>C | p.V1695A | missense | 0.00007419 | T/B/D/16.84 |
∗Using SIFT, PolyPhen, MutationTaster, and CADD to predict deleterious SNVs. SIFT (T, tolerated; D, deleterious); PolyPhen (D, probably damaging; P, possibly damaging; B, benign); MutationTaster (D, disease-causing); CADD (score>15 implied deleterious variations).