Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

Table 2 Mutations identified by WES in ten patients

Patient	Phenotype	Gene	Refseq	Nuclei acid change	Amino acid change	Allele state	Chromosomal position(hg19)	GnomAD frequency	Accession Number
1	NS	PTPN11	NM_002834.3	c.923A > G	A308S	het	Chr12:112,915,524	0	rs121918455
2	NS	RAF1	NM_002880.3	c.770C > T	S257 L	het	Chr3:12,645,699	0	rs80338796
3	NSML	RAF1	NM_002880.3	c.770C > T	S257 L	het	Chr3:12,645,699	0	rs80338796
4	NS	RAF1	NM_002880.3	C.781C > A	P261T	het	Chr3:12,645,688	0	rs121434594
5	NS	PTPN11	NM_002834.3	c.236A > G	Q79R	het	Chr12:112,888,220	0	rs121918466
6	NS	BRAF	NM_004333.4	c.1403 T > C	F468S	het	Chr7:140,481,405	4.062e-6	rs397507473
7	NS	PTPN11	NM_002834.3	c.209A > G	K70R	het	Chr12:112,888,193	0	rs397516801
8	NS	BRAF	NM_004333.4	c.770A > G	Q257R	het	Chr7:140,501,302	0	rs180177035
9	NS	BRAF	NM_004333.4	c.1403 T > G	F468C	het	Chr7:14,081,405	0	Not reported
10	NS	BRAF	NM_004333.4	c.1785 T > G	F595 L	het	Chr7:140,453,150	0	rs121913341

ISSN: 1755-8794