Table 2 List of patients with known mutations included in the validation set
From: Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
Patient ID | Gene | Mutation | Allele state | Mutation detected by TSCA sequencing | Coverage | Qscore |
|---|---|---|---|---|---|---|
1 | PTPN11 | Y63C | het | Y63C | 374 | 38 |
2 | PTPN11 | N308D | het | N308D | 519 | 39 |
3 | PTPN11 | T468M | het | T468M | 525 | 40 |
4 | SOS1 | M279R | het | M279R | 390 | 39 |
5 | SOS1 | I733N | het | I733N | 78 | 37 |
6 | HRAS | G12A | het | G12A | 20 | 37 |