| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Deficiency of coagulation factor XIII (F13A) | Bleeding disorder | Autosomal Recessive | 6p25.1 | Splice site | F13A | 1460+1G>A | Frame shift mutation & PTC | 0/Borhany et al., 2014 | |
| Deficiency of coagulation factor XIII (F13A) | Bleeding disorder | Autosomal Recessive | 6p25.1 | Splice site | F13A | 2045 G>A | 0/Borhany et al., 2014 | ||
| Deficiency of coagulation factor XIII (F13A) | Bleeding disorder | Autosomal Recessive | 6p25.1 | Nonsense | F13A | 567T>A | Cys188* | Premature Termination | 0/Borhany et al., 2014 |
| Deficiency of coagulation factor XIII (F13A) | Bleeding disorder | Autosomal Recessive | 6p25.1 | Missense | F13A | 1040C>A | Ala346Asp | Amino Acid Substitution | 0/Borhany et al., 2014 |
| Deficiency of coagulation factor XIII (F13A) | Bleeding disorder | Autosomal Recessive | 6p25.1 | Missense | F13A | 1126T>C | Trp375Arg | Amino Acid Substitution | 0/Borhany et al., 2014 |
| Deficiency of coagulation factor XIII (F13A) | Bleeding disorder | Autosomal Recessive | 6p25.1 | Missense | F13A | 1241C>T | Ser413Leu | Amino Acid Substitution | 0/Borhany et al., 2014 |
| Deficiency of coagulation factor XIII (F13A) | Bleeding disorder | Autosomal Recessive | 6p25.1 | Missense | F13A | G>A | Arg326Gln | Amino Acid Substitution | 0/Aslam et al., 2000 |
