Genes investigated using Fluidigm 48.48 Access Array amplification and consecutive next-generation sequencing
| Gene | Locus/protein | Chromosome | Accession # | Exon count | Coding exon count | Open reading frame size (bp) |
|---|---|---|---|---|---|---|
| NPHP1 | NPHP1/Nephrocystin 1 | 2 | NM_000272.2 | 20 | 20 | 2202 |
| INVS | NPHP2/Inversin | 9 | NM_014425.2 | 17 | 16 | 3198 |
| NPHP3 | NPHP3/Nephrocystin 3 | 3 | NM_153240.3 | 27 | 27 | 3993 |
| NPHP4 | NPHP4/Nephroretinin | 1 | NM_015102.2 | 30 | 29 | 4281 |
| IQCB1 | NPHP5/IQ motif containing B1 | 3 | NM_001023570.1 | 15 | 13 | 1797 |
| CEP290 | NPHP6/Centrosomal protein 290kDa | 12 | NM_025114.3 | 54 | 53 | 7440 |
| GLIS2 | NPHP7/GLIS family zinc finger 2 | 16 | NM_032575.2 | 6 | 6 | 1575 |
| RPGRIP1L | NPHP8/RPGRIP1-like | 16 | NM_015272.2 | 27 | 26 | 3948 |
| NEK8 | NPHP9/NIMA related kinase 8 | 17 | NM_178170.2 | 15 | 15 | 2079 |
| SDCCAG8 | NPHP10/Serologically defined colon cancer antigen 8 | 1 | NM_006642.3 | 18 | 18 | 2139 |
| TMEM67 | NPHP11/Meckelin | 8 | NM_153704.5 | 28 | 28 | 2988 |
| 257 | 251 | 35640 |