Table 1.
Genes with confirmed de novo nonsense variants, indels or missense variants predicted deleterious (D) by MetaSVM in CDH probands
| Proband ID | Gene | Variant | Amino acid change | MetaSVM prediction (score) | MDD expressed genes |
|---|---|---|---|---|---|
| 01–0460 | ARFGEF2 | c.G3326A | p.R1109H | D (0.332) | Expressed |
| 01–0761 | CDO1 | c.259delG | p.D87fs | N/A | Highly expressed |
| 01–0568 | CLCN4 | c.G43A | p.D15N | D (0.644) | |
| 01–0109 | DLST | c.297_298del | p.99_100del | N/A | Highly expressed |
| 01–0562 | GATA6 | c.C1366T | p.R456C | D (0.881) | Highly expressed |
| 05–0011 | INHBB | c.C1055G | p.T352R | D (0.507) | |
| 01–0057 | LONP1 | c.C1325T | p.T442M | D (1.087) | Expressed |
| 03–0001 | PPAPDC2 | c.T824A | p.V275E | D (0.427) | Expressed |
| 01–0634 | PRKACB | c.C277T | p.R93X | N/A | Highly expressed |
| 01–0215 | PTPN12 | c.C77T | p.T26M | D (0.465) | Highly expressed |
| 01–0450 | SIN3A | c.1570_1577del | p.Y524Vfs*26 | N/A | Highly expressed |
| 01–0562 | SLC5A9 | c.C172T | p.R58C | D (0.856) | Expressed |
| 01–0147 | STAG2 | c.C1840T | p.R614X | N/A | Highly expressed |
| 01–0083 | TLN1 | c.G98A | p.R33H | D (0.351) | Highly expressed |