Table 3.

NPHS2 variants other than p.R138Q

Other variants	n = 78
p.E87X (c.259G>T) / p.E87X (c.259G>T)	5
p.E87X (c.259G>T) / c.535-1G>C	1
p.R138X (c.412C>T) / p.R138X (c.412C>T)	5
p.G140Dfs∗41 (c.419del) / p.R36Pfs∗34 (c.104dup)	2
p.G140Dfs∗41 (c.419del) / p.G140Dfs∗41 (c.419del)	4
c.451+3 A>T / c.451+3 A>T	1
p.L156Cfs∗25 (c.460delT) / p.L156Cfs∗25 (c.460delT)	2
p.V165X (c.460-467insT) / p.V165X (c.460-467insT)	1
p.L156Ffs∗11 (c.467dup) / p.E87X (c.259G>T)	1
p.L156Ffs∗11 (c.467dup) / p.L156Ffs∗11 (c.467dup)	2
p.L156Ffs∗11 (c.467dup) / p.R168S (c.502C>A)	1
p.L156Ffs∗11 (c.467dup) / p.V180M (c.538G>A)	1
p.R168C (c.502C>T) / p.R168C (c.502C>T)	1
p.R168H (c.503G>A) / p.G92C (c.274G>T)	2
p.R168H (c.503G>A) / p.R168H(c.503G>A)	1
p.L169P (c.506T>C) / p.L169P (c.506T>C)	2
p.P118L (c.535C>T) / p.P118L(c.535C>T)	4
p.P118L (c.535C>T) / p.R238S (c.714G>T)	1
p.V180M (c.538G>A) / p.V180M (c.538G>A)	2
p.Q215X (c.643C>T) / p.I114del (c.342_344delTCA)	1
p.Q219X (c.655C>T) / p.Q219X (c.655C>T)	1
p.R229Q (c.686G>A) / p.A284V (c.851C>T)	10
p.R229Q (c.686G>A) / p.R286Tfs∗17 (c.855_856del)	2
p.R229Q (c.686G>A) / p.R291W (c.871C>T)	2
p.R229Q (c.686G>A) / p.A297V (c.890C>T)	1
p.R229Q (c.686G>A) / p.E310K (c.928G>A)	1
p.R229Q (c.686G>A) / p.F344Lfs∗4 (c.1032delT)	5
p.V260E (c.779T>A) / p.V260E (c.779T>A)	9
p.R286Tfs∗17 (c.855_856del) / p.R286Tfs∗17 (c.855_856del)	2
p.R286Tfs∗17 (c.855_856del) / p.R322X (c.964C>T)	2
c.873+1 G>T / c.873+1 G>T	1
p.L347X (c.948delT) / p.L347X (c.948delT)	1
p.P343S (c.1027C>T) / p.S120P (c.358T>C)	1