Table 3.
Loss of function variants in variants with shet > 0.04, pLI > 0.9 and minor allele frequency (MAF)_ in gnomAD (v3) < 10−5. Drosophila heart specific knockout data included.
| ID | Inheritance | Gene:variant | Phenotype | s_het | gnomAD_all (v3) | gnomAD_Africa (v3) | pLi | Fly gene name | Mortality Index |
|---|---|---|---|---|---|---|---|---|---|
| 11759 | de nov (trio) | XPOT:NM_007235:c.C1447T:p.R483* | DILV, hypoplastic RV, IAA, PDA, VSD | 0.0579 | 6.98E-06 | 0 | 0.99711 | none | not examined |
| 12156 | de nov (trio) | NOTCH2:NM_024408:c.7198C>T:p.R2400X | chd, ostium primum asd, small pda, mild mr, mod pah | 0.1227 | 0 | 0 | 1 | Notch | 37.6 |
| 12353 | de nov (trio) | KMT2A:NM_001197104:c.3022_3023dupTC; p.Met1009Profs*11 | VSD, PDA | 0.2168 | 0 | 0 | 1 | trx | 28 |
| 12419 | duo (not found in mother) | PRKCB:NM_002738:c.1181T>A; p.L394* | TOF | 0.3746 | 0 | 0 | 1 | Pkc53E | 0 |
| 12484 | singleton | FRYL:NM_015030:c.8965_8969dupTCTCT; p.Arg2991Leufs*11 | D-TGA, hypoplastic aorta, ASD, VSD. | 0.0675 | 6.98E-06 | 2.38E-05 | 0.99727 | fry | 0 |
| 12490 | singleton | JAG1:NM_000214:JAG1 c.2103dupC; p.Cys702LeufsTer5 | AS | 0.3136 | 0 | 0 | 1 | Serrate | 14.5 |
| 12793 | singleton | CHD7:NM_017780:c.4480C>T; p.R1494* | AS, BAV, peripheral PS, AP window, RT aortic arch. | 0.25703208 | 0 | 0 | 1 | kismet | 47.3 |
| 12795 | de nov (trio) | NF1:NM_001128147:c.888+1G>T | Sub pulmonic VSD | 0.06140851 | 0 | 0 | 0.90175 | Nf1 | 7.6 |
TOF – Tetralogy of Fallot; AS - Aortic stenosis; BAV - Bicuspid aortic valve; PPS - Peripheral pulmonary stenosis; AVSD - Atrio-ventricular septal defect; PDA - Patent ductus arteriosus, VSD - Ventricular septal defect; PS - Pulmonary stenosis; d-TGA- Dextro-Transposition of great arteries; ASD – Atrial septal defect; shet - genome wide distribution of selection effects for heterozygous protein truncating.