Table 2.
Data on genetic variants.
| Gene | Serial number | Chromosome location | Nucleic acid changes | Amino acid changes | RS number | MAF | ACMG pathogenic variant class | Proband | Father | Mother | OMIM number of related diseases, mode of inheritance |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADAMTS13 | 1 | chr9:13 6303376 |
c.1595(exon 14)G>T | p.C532F (p.Cys532Phe) |
None | Not recorded | Uncertain | Heterozygous 29/55 |
Wild type 0/54 | Hybrid 30/61 | TTP (OMIM: 274150), AR |
| 2 | chr9:13 6298592 |
c.1187(exon 10)G>A | p.C396Y (p.Cys396Tyr) |
None | Not recorded | Uncertain | Heterozygous 30/54 |
Heterozygous 49/102 | Wild type 0/46 |