From: Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
Gene | PTPN11 | SOS1 | BRAF | RAF1 | KRAS | NRAS | HRAS | SHOC2 | MAP2K1 | MAP2K2 | CBL |
---|---|---|---|---|---|---|---|---|---|---|---|
Number of exons uploaded into DS | 15 | 23 | 18 | 16 | 5 | 4 | 5 | 8 | 11 | 11 | 16 |
Number of exons entirely covered by DS with predicted success score >60% | 14 | 23 | 18 | 16 | 5 | 3 | 5 | 8 | 11 | 11 | 16 |
Total exons covered by DS/ total exons uploaded into DS (%) | 98.5 | ||||||||||
Number of exons successfully sequenced with coverage > 30 | 13 | 22 | 16 | 16 | 5 | 3 | 5 | 8 | 9 | 9 | 14 |
Total exons successfully sequenced/ total exons covered by DS (%) | 92.4% |