| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| FANCA | 607139 | FANCONI ANEMIA, COMPLEMENTATION GROUP A | FANCA, 4-BP DEL, NT1155 | rs397507552 | 16 | 89792033 | GCCAA | G | ClinVar_20131230;TSA=deletion;CLIN_pathogenic |
| FANCA | 607139 | FANCONI ANEMIA, COMPLEMENTATION GROUP A | FANCA, TRP171TER | rs121907930 | 16 | 89810716 | C | T | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C |
