| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Disease | Symptom | Hereditary pattern*2 | Reference |
| M | 1090 | 1 | C | S364P | 5 | TCA-CCA --> Ser-Pro at codon 364 | heart malformations | visceroatrial heterotaxia syndromes, asplenia syndrome | AR | Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
| M | 1090 | 1 | C | S364P | 1 | TCA-CCA --> Ser-Pro at codon 364 | heart malformations | visceroatrial heterotaxia syndromes, polysplenia syndrome | AR | Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
| M | 1090 | 1 | C | S364P | 1 | TCA-CCA --> Ser-Pro at codon 364 | heart malformations | visceroatrial heterotaxia syndromes, polysplenia syndrome | AR | Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
| M | 1055 | 1 | G | E352G | 1 | GAA-GGA --> Glu-Gly at codon 352 | heart malformations | visceroatrial heterotaxia syndromes, asplenia syndrome | AR | Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
| M | 1055 | 1 | G | E352G | 1 | GAA-GGA --> Glu-Gly at codon 352 | heart malformations | visceroatrial heterotaxia syndromes, atrial and bronchopulmonary isomerism and defects of laterality but had a single, small spleen | AR | Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
| M | 1117 | 1 | G | S373G | 1 | AGC-GGC --> Ser-Gly at codon 373 | heart malformations | visceroatrial heterotaxia syndromes, polysplenia syndrome | AR | Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
| M | 1094 | 1 | A | S365N | 1 | AGC-AAC --> Ser-Asn at codon 365 | heart malformations | visceroatrial heterotaxia syndromes, polysplenia syndrome | AR | Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
| M | 976 | 1 | G | T326A | 1 | ACC-GCC --> Thr-Ala at codon 326 | heart malformations | visceroatrial heterotaxia syndromes, atrial and bronchopulmonary isomerism and defects of laterality but had a single, small spleen | AR | Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |