Table 2 The pathogenicity of DNAH9 variants in PIBO patients
From: DNAH9 variants in children with post-infectious bronchiolitis/bronchitis obliterans
cDNA change (Protein change) | dbSNP | Source | GnomAD (East Asian) | Poly-phen2 score | Mutation- Taster score | SIFT Score | ACMG | Ref | |
|---|---|---|---|---|---|---|---|---|---|
P1 | c.12,925 C > T(p.R4309*) | NA | M | 0.00007 | - | - | - | P | Current |
c.5152-10G > T(P? ) | NA | P | None | - | - | - | VUS | Current | |
P2 | c.9479 C > T(p.A3160V) | rs770572516 | M | None | 1.000 Pro-D | 0.999 D | -3.765 D | VUS | Current |
c.7415G > A(p.R2472Q) | rs188772907 | P | 0.00089 | 0.034 B | 0.726D | -2.079 N | VUS | Current | |
P3 | c.5692G > T(p.E1898*) | - | P | None | - | - | - | P | Current |
c.11,572 C > T(p.R3858W) | rs779372233 | M | 0.00002 | 1.000 Pro-D | 0.999 D | -7.480 D | VUS | Current | |
P4 | c.11,176 C > T(p.R3726W) | rs3760436 | - | 0.0063 | 1.000 Pro-D | 0.999 D | -7.517 D | VUS | 35,050,399 |
c.1010 C > T(p.P337L) | Rs3744574 | - | 0.0056 | 0.026 B | 0.999 D | -5.815 D | VUS | Current | |
P5 | c.4604 A > G(p.Q1535R) | rs147183329 | P | 0.0034 | 1.000 Pro-D | 0.999 D | -3.664 D | VUS | Current |
c.12844-14T > C(P? ) | NA | M | 0.00072 | - | - | - | VUS | Current | |
P6 | c.4816T > C(p.F1606L) | rs765169895 | M | 0.00033 | 0.884 Pro-D | 0.999 D | -5.474 D | VUS | Current |
c.8831G > A(p.R2944Q) | rs550801585 | P | 0.0010 | 0.909 Pro-D | 0.625 D | -2.851 D | VUS | Current |