F419-22 / NPHP1 / c.1027G>A (h) / p.G343R / 28/1179 (2.4%) / Otto et al., 2008b
F868-23 / INVS / c.2719C>T (h)
c.2747insA (h) / p.R907X
p.K916fsX87 / 126/5375 (2.3%)
150/6279 (2.4%) / Otto et al., 2003
F23-22 / NPHP3 / c.1079G>C (h)
c.1381G>T (h) / p.S360T
p.E461X / 2/251 (0.8%)
52/7941 (0.7%) / Olbrich et al., 2003
F444-21 / NPHP4 / IVS15+1G>A (h)
IVS24+1G>A (h) / splice site
splice site / 56/2409 (2.3%)
105/3559 (3.0%) / Otto et al., 2002
A132-45 / IQCB1 / c.1381C>T (H) / p.R461X / 12/276 (4.3%) / Otto et al., 2005
A989-21 / CEP290 / c.4882C>T (h)
c.5941G>T (h) / p.Q1628X
p.E1981X / 33/1381 (2.4%)
30/1970 (1.5%) / Helou et al., 2007
F761-22 / GLIS2 / IVS5+1G>T (H) / splice site / 223/10829 (2.1%) / Attanasio et al., 2007
A2061-21 / RPGRIP1L / c.1843A>C (H) / p.T615P / 49/1012 (4.8%) / Wolf et al., 2007
F601-21 / NEK8 / c.1312C>T (H) / p.H438Y / 71/3161 (2.2%) / Otto et al., 2008a
A1011-21 / TMEM67 / c.868G>T (h)
c.1843T>C (h) / p.W290L
p.C615R / 120/3723 (3.2%)
63/1289 (4.9%) / Otto et al., 2009
F256-24 / INPP5E / c.714 G>T (h) / p.R238R
synonymous / 48/2431 (2.0%) / NA
A2423-21 / TMEM216 / c.253C>T (H) / p.R85X / 0/0 (0%) / Valente et al., 2010
A185-21 / AHI1 / c.736A>T (h)
c.2495T>G (h) / p.K246X
p.L832X / 10/482 (2.1%)
83/3079 (4.9%) / Parisi et al., 2006
A1900-21 / ARL13B / c.1062A>G (H) / p.K354K
synonymous / 36/1782 (2.0%) / NA
F871-21 / CC2D2A / c.4475T>C (H) / p.L1492P / 98/3588 (2.7%) / Gordon et al., 2008
F623-21 / TTC21B / c.626C>T (H) / p.P209L / 68/2684 (2.5%) / Davis et al., 2010
A1331-21 / MKS1 / c.1528-1529insC (H) / p.R510fs / 159/8580 (1.9%) / unpublished
A131-21 / XPNPEP3 / c.1357G>T (H) / p.G453C / 307/5622 (5.5%) / O’Toole et al., 2010
Supplementary Table 2: List and results of 23 different known mutations/variants of 18 patients in 18 different NPHP-AC genes used for proof of principle of the MPR and DNA pooling strategy.Mutation numbering is based on cDNA position in reference sequences indicated in Table 1 with +1 corresponding to the A of the ATG translation initiation codon. (h), heterozygous; H, homozygous. Mutations not discovered with next-generation sequencing and CLC Genomics Workbench™ software analysis are indicated in bold.
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