Table 8. Mutations from Indian patients with Factor XIII deficiency.
| Sr no. | Patient nos. | Exon | Nucleotide change | Amino acid change | Comments | Polymorphisms | References |
| 1 | 1 | 4 | c.C523T | p.Arg174* | Homozygous | IVS1, g.A246G | [20] |
| 2 | 2 | 3 | §c.C267T | §p.Gln85* | Homozygous | IVS1, g.A246G, §A6T | |
| 3 | 3 | 5 | §c.A689G | §p.Gln229Arg | Homozygous | IVS1, g.A246G, Exon8, p.Pro331Pro | |
| 4 | 4 | 14 | c.G2045A | p.Arg681Gln | Homozygous | IVS1,g.A246G, p.Val650Leu Homo, Ex14 | |
| 5 | 5 | 6 | c.G782A | p.Arg260His | Homozygous | Exon12 p.Pro564Leu | |
| 6 | 6 | 2 | §c.T58C | §p.Ser19Pro | Exon12 p.Pro564Leu | ||
| 7 | 7 | 4 | §c.521delG | Heterozygous | IVS1,g.A246G | ||
| 8 | 6 | §c.T790C | §p.Ser263Pro | Heterozygous | - | ||
| 9 | 1,6 | 10 | c.G1243T | p.Val414Phe | Homozygous | Intron7 g.973+26delT; g.973+50insC | [21] |
| 10 | 2 | 3 | §c.T210G | §p.Tyr69* | Homozygous | c.G103T, p.Val34Leu; c.C1794T, p.Pro564Leu; | |
| 11 | 3 | 6 | §c.C791T | §p.Ser263Phe | Heterozygous | c.G1951A, p.Val650Ile; c.G1954C, p.Glu651Gln | |
| 12 | Intron14 | §g.G2045A-1 | Heterozygous | G-246A, c.T1216_23C, c.C1216_24T | |||
| 13 | 4 | 10 | c.C1241T | p.Ser413Leu | Homozygous | ||
| 5 | 6 | c.G789T | p.Arg260His | Homozygous | |||
| 6 | 10 | c.G1243T | p.Val414Phe | Homozygous | |||
| 14 | 7 | 7 | §c. 892_895dupG | §p.ser290_Ala291fs | Homozygous | ||
| 15 | 8 | 12 | §c.1642_1644dupA | §p.Tyr547fs | Homozygous |
§
Novel variations.
All the mutations reported above are reported in F13A gene.