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Table 1 Non-synonymous NPHS2 variants detected

From: NPHS2variation in focal and segmental glomerulosclerosis

Type of variant Nucleotide change Effect on coding sequence Exon Heterozygous (n, %) Homozygous (n, %) Frequency in Familial FSGS Frequency in Sporadic FSGS
missense c.29G>C p.R10T 1 1, 0.27% - N = 0 N = 1 (1/249, 0.4%)
  c.379G>T p.V127W 2 - 1, 0.27% N = 0 N = 1 (1/249, 0.4%)
  c.413G>A p.R138Q 3 5, 1.3% 1, 0.27% N = 5 (5/122, 4%) N = 1 (1/249, 0.4%)
  c.538G>A p.V180M 5 - 1, 0.27% N = 1 (1/122, 0.8%) N = 0
  c.643C>T p.Q215X 5 1, 0.27% - N = 1 (1/122, 0.8%) N = 0
  c.686G>A p.R229Q 5 40, 10.8% 1, 0.27% N = 10 (10/122, 8.2%) N = 31 (31/249, 12.5%)
  c.694C>T p.T232I 5 1, 0.27% - N = 0 N = 1 (1/249, 0.4%)
  c.709G>C p.E237Q 5 1, 0.27% - N = 0 N = 1 (1/249, 0.4%)
  c.725C>T p.A242V 5 14, 3.7% 1, 0.27% N = 1 (1/122, 0.8%) N = 14 (14/249, 5.6%)
  c.810G>T p.L270F 6 1, 0.27% - N = 0 N = 1 (1/249, 0.4%)
  c.851C>T p.A284V 7 2, 0.5% 1, 0.27% N = 0 N = 3 (3/249, 1.2%)
  c.934C>G p.L312V 8 1, 0.27% - N = 1 (1/122, 0.8%) N = 0
  c.1048C>T p.L327F 8 1, 0.27% - N = 0 N = 1 (1/249, 0.4%)
Frame-shift 397delA Frame-shift 3 1, 0.27% - N = 0 N = 1 (1/249, 0.4%)
  855/6delAA Frame-shift 7 1, 0.27% - N = 0 N = 1 (1/249, 0.4%)