Table 2.

NPHS2 variants with p.R138Q

Variants	n = 39
p.R138Q (c.413G>A) / p.R138X (c.412C>T)	2
p.R138Q (c.413G>A) / p.R138Q (c.413G>A)	23
p.R138Q (c.413G>A) / c.451+2T>A	1
p.R138Q (c.413G>A) / p.V165X (c.460_467insT)	1
p.R138Q (c.413G>A) / p.R168H (c.503G>A)	2
p.R138Q (c.413G>A) / c.535-1G>T	1
p.R138Q (c.413G>A) / p.V180M (c.538G>A)	2
p.R138Q (c.413G>A) / p.D183Y (c.547G>T)	1
p.R138Q (c.413G>A) / p.R286Tfs∗17 (c.855_856del)	5
p.R138Q (c.413G>A) / c.873+2T>A	1