Table 2.
Allele frequencies of the variants in different populations. Note the frequencies of the FREM2 variants are higher in the patient cohort than they are in various normal populations.
| Patients/ FREM2 Variants |
Patient 1 p.Arg535Cys rs201457616 |
Patient 2 p.Arg1951His rs201806885 |
Patient 3 p.Thr2317Ser |
Patient 4 p.Val517Met rs566143955 |
Patient 5 p.Thr641Ala rs116802472 |
Patient 6 p.Val284Leu rs770004356 |
Patient 6 p.Asn2833Ser |
|---|---|---|---|---|---|---|---|
| Frequencies in the study group (n = 122 persons or 244 alleles) |
N = 1 (0.409836%) |
N = 1 (0.409836%) |
N = 1 (0.409836%) |
N = 1 (0.409836%) |
N = 2 (0.819672%) |
N = 1 (0.409836%) |
N = 1 (0.409836%) |
| Frequencies in normal Thai population (T-Rex) (n = 2184 alleles) |
N = 4 (0.18315%) | 0% | 0% | 0% | N = 5 (0.228938%) |
N = 4 (0.18315%) | 0% |
| Frequencies in global population gnomAD |
0.01712% | 0.0003982% | Not reported or 0% |
0.0002012% | 0.002829% | 0.02231% | Not reported or 0% |
| Frequencies in South Asian population gnomAD |
0% | 0% | Not reported or 0% |
0% | 0% | 0% | Not reported or 0% |
| Frequencies in East Asian population gnomAD |
0.2164% | 0.005448% | Not reported or 0% |
0% | 0.03510% | 0.3158% | Not reported or 0% |