Table 1: Variants identified in individuals with NDD in the 18 bp critical region of RNU4-2.
(chr12:120,291,825-120,291,842). Numbers in brackets in NDD count columns correspond to individuals with detailed clinical information in Table 2. The count in population cohorts is shown only for variants observed in individuals with NDD. A full list of variants found across the region in population cohorts is in Supplementary Table 3.
| variant | nucleotide description | GEL NDD count (in Table 2) | Non-GEL NDD count** (in Table 2) | population cohort count |
|---|---|---|---|---|
| Single base insertions | ||||
| 12:120291839:T:TA | n.64_65insT | 46 (2) | 46 (31) | 1 (UK Biobank) |
| 12:120291839:T:TC | n.64_65insG | 0 | 2 (1) | 0 |
| 12:120291826:T:TA | n.77_78insT | 6* | 0 | 0 |
| 12:120291827:T:TA | n.76_77insT | 1 | 0 | 0 |
| 12:120291835:G:GT | n.68_69insA | 1 | 0 | 0 |
| 12:120291838:T:TA | n.65_66insT | 1 | 0 | 0 |
| Total | 55 * | 48 | 1 | |
| SNVs | ||||
| 12:120291839:T:C | n.65A>G | 2 | 0 | 0 |
| 12:120291826:T:G | n.78A>C | 1 | 0 | 0 |
| 12:120291828:G:A | n.76C>T | 1 | 6 (1) | 1 (gnomAD v4) |
| 12:120291835:G:A | n.69C>T | 0 | 1 (1) | 0 |
| 12:120291837:T:C | n.67A>G | 1 | 3 | 0 |
| 12:120291841:A:C | n.63T>G | 1 | 0 | 0 |
| Total | 6 | 10 | 1 |