Table 3.
Average number of rare variants per patient.
| Patient | Effect of variant | HGVD | gnomAD |
|---|---|---|---|
| TA-TMA (n = 15), n (range) | Non-synonymous or frameshift | 0.27 (0–2) | 0.73 (0–4) |
| Synonymous | 0.4 (0–2) | 0.80 (0–4) | |
| Intronic variants | 0.13 (0–1) | 0.20 (0–1) | |
| Total | 0.8 (0–2) | 1.73 (0–8) | |
| non-TA-TMA (n = 15), n (range) | Non-synonymous or frameshift | 0.33 (0–1) | 1.33 (0–4) |
| (including a duplicated patient) | Synonymous | 0 (0) | 0.60 (0–2) |
| Intronic variants | 0 (0) | 0.13 (0–1) | |
| Total | 0.33 (0–1) | 2.1 (0–6) |
gnomAD, Genome Aggregation Database; HGVD, Human genetic variation database of the Japanese population; TA-TMA, transplant-associated thrombotic microangiopathy.