| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Deficiency of coagulation factor VII (F7) | Bleeding disorder | Autosomal Recessive | 13q34 | Promotor site | F7 | -57C>T | 0/Borhany et al., 2013 | ||
| Deficiency of coagulation factor VII (F7) | Bleeding disorder | Autosomal Recessive | 13q34 | Missense | F7 | 245G>A | Cys82Tyr | Amino Acid Substitution | 0/Borhany et al., 2013 |
| Deficiency of coagulation factor VII (F7) | Bleeding disorder | Autosomal Recessive | 13q34 | Missense | F7 | 965G>C | Cys322Ser | Amino Acid Substitution | 0/Borhany et al., 2013 |
| Deficiency of coagulation factor VII (F7) | Bleeding disorder | Autosomal Recessive | 13q34 | Missense | F7 | 1069C>T | Leu357Phe | Amino Acid Substitution | 0/Borhany et al., 2013 |
| Deficiency of coagulation factor VII (F7) | Bleeding disorder | Autosomal Recessive | 13q34 | Missense | F7 | 1228A>G | Thr410Ala | Amino Acid Substitution | 0/Borhany et al., 2013 |
| Deficiency of coagulation factor VII (F7) | Bleeding disorder | Autosomal Recessive | 13q34 | Missense | F7 | 244T>C | Cys82Arg | Amino Acid Substitution | 0/Borhany et al., 2013 |
| Deficiency of coagulation factor VII (F7) | Bleeding disorder | Autosomal Recessive | 13q34 | Missense | F7 | 961C>T | Leu321Phe | Amino Acid Substitution | 0/Borhany et al., 2013 |
| Deficiency of coagulation factor VII (F7) | Bleeding disorder | Autosomal Recessive | 13q34 | Missense | F7 | 1109G>T | Cys370Phe | Amino Acid Substitution | 0/Borhany et al., 2013 |
| Deficiency of coagulation factor VII (F7) | Bleeding disorder | Autosomal Recessive | 13q34 | Missense | F7 | 1223A>G | His408Arg | Amino Acid Substitution | 0/Borhany et al., 2013 |
