| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| FANCI | 611360 | FANCONI ANEMIA, COMPLEMENTATION GROUP I | FANCI, ARG1285GLN | rs121918163 | 15 | 89315319 | G | A | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G |
| FANCI | 611360 | FANCONI ANEMIA, COMPLEMENTATION GROUP I | FANCI, ARG1285TER | rs121918164 | 15 | 89315318 | C | T | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=C |
