Table 4 Inheritance of 225 SNVs and indels in NDD HNRNPs
From: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
| Variant type | De novo % of variant type (n) | Inherited % of variant type (n) | Unknown % of variant type (n) | Total % of all variants (n) |
|---|---|---|---|---|
| LGD | 82 (114/139) | 0.7 (1/139) | 17.3 (24/139) | 61.8 (139/225) |
| All MIS | 58.1 (50/86) | 1.2 (1/86) | 40.7 (35/86) | 38.2 (86/225) |
| MIS—no CADD score | 50 (4/8) | 0 (0/8) | 50 (4/8) | 3.6 (8/225) |
| MIS20 | 57.5 (42/73) | 1.4 (1/73) | 41.1 (30/73) | 32.4 (73/225) |
| MIS30 | 80 (4/5) | 0 (0/5) | 28.6 (2/5) | 2.7 (6/225) |
| All variants | 73.2 (164/225) | 0.9 (2/225) | 25.3 (56/225) | 100 (225/225) |