Table 2 Minor allele frequency (MAF) of the variants of uncertain significance with high pathogenicity scores.
Gene | Variant | MAF in Chinese | MAF in Indian | MAF in Malay | MAF in SG10K | MAF in gnomAD | References |
|---|---|---|---|---|---|---|---|
COL4A3 | c.1367_1369delATC (p.Tyr456delTyr) | 2.79E-04 | 0 | 0 | 1.68E-04 | 1.92E-05 | |
COL4A3 | c.1994G > C (p.Gly665Ala) | 0 | 2.68E-04 | 0 | 5.60E-05 | 4.34E-06 | - |
COL4A3 | c.3321_3329delAAGTCCTGG (p.Ser1108_Gly1110delSerProGly) | 9.30E-05 | 0 | 0 | 5.60E-05 | 2.73E-05 | |
COL4A3 | c.3691G > A (p.Gly1231Ser) | 1.87E-04 | 0 | 0 | 1.13E-04 | 1.14E-05 | |
COL4A3 | c.3956G > A (p.Gly1319Glu) | 9.40E-05 | 0 | 0 | 5.60E-05 | 1.41E-05 | - |
COL4A4 | c.3424G > A (p.Gly1142Arg) | 9.40E-05 | 0 | 0 | 5.60E-05 | - |
