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Table 2 Mutations identified by WES in ten patients

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

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
  1. NS Noonan syndrome, NSML Noonan syndrome with multiple lentigines