Mutation in NRAS in familial Noonan syndrome – case report and review of the literature

BMC Medical Genetics

Table 1 Average read depth and coverage of RASopathy-associated genes in this study

Gene	Reference sequence	ROI^a bases	Exons	Average read depth	Coverage >30X (%)
BRAF	NM_004333	3021	18	12 637	100. 0
CBL	NM_005188	3361	16	12 016	100.0
HRAS	NM_005343	812	6	14 291	100.0
KRAS	NM_004985	768	5	10 811	100.0
MAP2K1	NM_002755	1622	11	12 525	100.0
MAP2K2	NM_030662	1643	11	11 127	100.0
NF1	NM_000267	10737	58	12 728	99.8
NRAS	NM_002524	861	7	16 378	100.0
PTPN11	NM_002834	6521	16	16 262	100.0
RAF1	NM_002880	2587	16	15 985	100.0
SHOC2	NM_007373	2069	8	17 812	100.0
SOS1	NM_005633	4922	23	13 439	99.9
SPRED1	NM_152594	1615	7	10 509	100.0

ISSN: 1471-2350