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Table 1 List of genes analyzed in this study and coverage percentage of the investigated exons

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%