Table 4 Diagnosticvariantss in WES.
Group | ID | NT(mm) | Diagnostic variants | Chromosome position | Inheritance | Recurrence Risk | Genetic Disorder | Outcome |
|---|---|---|---|---|---|---|---|---|
NT | 1 | 3.6 | EVC2 c.1195 C > T p.Arg399* | chr4:5642516 | De novo (AD) | 1–2% | Weyers acrofacial dysostosis | TOP |
2 | 4.7 | RIT1 c.246T > G p.Phe82Leu | chr1:155874285 | De novo (AD) | 1–2% | Noonan syndrome | TOP | |
3 | 3.5 | CDAN1 c.2591G > A p.Arg864Gln | chr15:43021275 | Maternal and paternal (AR) | 25% | Dyserythropoietic anemia, congenital, type Ia | TOP | |
|  |  | CDAN1 c.2638 C > A p.His880Asn | chr15:43021228 |  |  |  |  | |
4 | 3.4 | COL4A5 c.3881G > C p.Gly1294Ala | chrX:107920820 | De novo (XLD) | 1–2% | Alport syndrome 1, X-linked | TOP | |
5 | 3.9 | PIEZO1 c.7523G > A p.Arg2508His | chr16:88782056 | Maternal and paternal (AR) | 25% | ER blood group system | TOP | |
|  |  | PIEZO1 c.2009T > A p.Leu670Gln | chr16:88800935 |  |  |  |  | |
6 | 4.6 | SOS1 c.1297G > A, p.Glu433Lys | chr2:38981549 | De novo (AD) | 1–2% | Noonan syndrome | TOP | |
7 | 3.1 | PTPN11 c.174Â C> A p.Asn58Lys | chr12:112888158 | Maternal (AD) | 50% | Noonan syndrome | Birth | |
CH | 8 |  | BRAF c.2002 A > G p.Met668Val | chr7:140439737 | De novo (AD) | 1–2% | Noonan syndrome | TOP |
|  |  | CYP21A2 c.60G > T p.Trp20Cys | chr6:32006259 | Maternal and paternal (AR) | 25% | Adrenal hyperplasia, congenital |  | |
9 |  | RPS10 c.337 C > T p.Arg113* | chr6:34389570 | De novo (AD) | 1–2% | Diamond-Blackfan anemia 9 | TOP | |
10 |  | PTPN11 c.211T > C p.Phe71Leu | chr12:112888195 | De novo (AD) | 1–2% | Noonan syndrome | TOP | |
11 |  | PTPN11 c.181G > A p.Asp61Asn | chr12:112888165 | De novo (AD) | 1–2% | Noonan syndrome | TOP | |
12 |  | MYH7 c.1336T > G p.Thr446Pro | chr14:23412740 | De novo (AD) | 1–2% | Cardiomyopathy, dilated | TOP |
