| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| TNFRSF13B | 604907 | IMMUNODEFICIENCY, COMMON VARIABLE, 2 | TNFRSF13B, SER194TER | rs121908379 | 17 | 16940374 | AGG | ACC,AAGG,AACC | dbSNP_138;TSA=substitution;CLIN_pathogenic |
| TNFRSF13B | 604907 | IMMUNODEFICIENCY, COMMON VARIABLE, 2 | TNFRSF13B, ARG202HIS | rs104894649 | 17 | 16940352 | C | T | dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic |
| TNFRSF13B | 604907 | IMMUNODEFICIENCY, COMMON VARIABLE, 2 | TNFRSF13B, SER144TER | rs104894650 | 17 | 16948752 | G | T | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic |
