Table 1:
Missense MYO9A variants identified in FSGS-CT patient cohort (NCT00135811)
| Sample | MYO9A variant | Pathogenicity prediction scores | gnomAD Freq. (> 240 000 alleles) | ||
|---|---|---|---|---|---|
| MetaSVM | SIFT | CADD | |||
| 1 | MYO9A:NM_006901:exon2:c.A467G:p.D156G | Deleterious | Damaging (0.003) | >18 | 0.0001 |
| 2 | MYO9A:NM_006901:exon15:c.G2295C:p.E765D | Not deleterious | Damaging (0.003) | >18 | 3.66E-05 |
| 3 | MYO9A:NM_006901:exon7:c.C1166T:p.T389M | Not deleterious | Benign | <10 | 1.22E-05 |
| 4 | MYO9A:NM_006901:exon26:c.C5110T:p.P1704S | Not deleterious | Benign | <10 | 8.94E-05 |
| 5 | MYO9A:NM_006901:exon41:c.A7150G:p.M2384V | Not deleterious | Benign | <10 | 0.0001 |
Variants filtered at minor allele frequency ≤ 0.01%, n=94 samples following ANNOVAR annotation; p.D156G = p.Asp156Gly; p.E765D = Glu765Asp; p.T389M = Thr389Met; p.P1704S = p.Pro1704Ser; p.M2384V = p.Met2384Val