TABLE 2 ∣.
ABCA3 variants in the study group and gnomAD allele frequency.
| ABCA3 Variants in the study group and gnomAD allele frequency | |||||
|---|---|---|---|---|---|
| Oxygen group |
No oxygen |
||||
| Variant | Number of infants n = 8 |
gnomAD allele frequency |
Variant | Number of infants n = 40 |
gnomAD allele frequency |
| p.Glu292Val (P) | 6 (0.75) | 4.53 e-3 | p.Glu292Val (P) | 10 (0.2) | 4.53 e-3 |
| p.Arg638His (VUS) | 1 (0.125) | 3.22e-4 | p.Arg288Lys (VUS) | 7 (0.15) | 7.03e-3 |
| p.Ala2Asp (VUS) | 1 (0.125) | 1.63e-4 | p.Ser1516Asn (VUS) | 1 (0.02) | 1.37e-6 |
| P = Pathogenic | c.3863-98 C > T (P) | 1 (0.02) | N.L. | ||
| LP = Likely Pathogenic | p.Thr575Ile (VUS) | 1 (0.02) | 1.05e-5 | ||
| VUS = Variant of Uncertain Significance | p.Ala132Thr (VUS) | 1 (0.02) | 1.31e-5 | ||
| N.L. = not listed | p.Arg1474Trp (VUS) | 2 (0.04) | 3.69e-3 | ||
| p.Ala90Thr (VUS) | 1 (0.02) | 1.86e-6 | |||
| p.Pro186Leu (LP) | 1 (0.02) | 3.72e-6 | |||
| p.Leu1159Met (VUS) | 1 (0.02) | N.L. | |||
| p.Arg671Cys (VUS) | 1 (0.02) | 2.17e-5 | |||
| c.2700+1 G > A (LP) | 1 (0.02) | 1.90e-6 | |||
| p.Ser1262Gly (VUS) | 4 (0.08) | 1.98e-3 | |||
| p.Phe478Leu (VUS) | 2 (0.04) | 4.71e-5 | |||
| p.Leu457Met (VUS) | 1 (0.02) | N.L. | |||
| p.Gly1443Arg (VUS) | 1 (0.02) | 3.78e-5 | |||
| p.Thr761Met (VUS) | 1 (0.02) | 3.16e-5 | |||
| p.Ile1586Met (VUS) | 1 (0.02) | 8.06e-6 | |||
| p.Ile561Phe (VUS) | 1 (0.02) | 8.55e-5 | |||
| p.Lys816Lys (VUS) | 1 (0.02) | 6.20e-6 | |||