Table 1. Data analysis for family RP127.
| Six members | 11 Members | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chromosome | Length | Coverage | QR | QS | QR | QS | Genes | Disease | Concordance with phenotype of affected patients |
| 1 | 7 | 52 | 4.87 | 25.3 | 2.5 | 13.0 | |||
| 1 | 51 | 95 | 0.12 | 1.1 | 0 | 0.0 | RPE65 | LCA, RP | Concordant |
| ABCA4 | MD, CRD, RP | Concordant | |||||||
| COL11A1 | Stickler | Non-concordant | |||||||
| GNAT2 | Achromatopsia | Non-concordant | |||||||
| 1 | 24 | 1 | 11.11 | 1.1 | 0 | 0.0 | |||
| 2 | 12 | 102 | 0.08 | 0.8 | 0 | 0.0 | |||
| 2 | 18 | 110 | 2.5 | 27.5 | 0 | 0.0 | EFEMP1 | MCDR | Non-concordant |
| 2 | 5 | 0 | 0 | 0.0 | 0 | 0.0 | SNRNP200 | RP | Concordant |
| 3 | 26 | 93 | 1.2 | 11.2 | 0.12 | 1.1 | |||
| 3 | 5 | 113 | 20.63 | 233.1 | 0.88 | 9.9 | |||
| 3 | 60 | 84 | 0.05 | 0.4 | 0.02 | 0.2 | IQCB1 | SLS | Non-concordant |
| RHO | RP | Concordant | |||||||
| NPHP3 | SLS | Non-concordant | |||||||
| CLRN1 | USH | Non-concordant | |||||||
| 4 | 9 | 120 | 1.8 | 21.6 | 0 | 0.0 | PROM1 | RP, MCDR | Concordant |
| 5 | 16 | 90 | 6.28 | 56.5 | 0.71 | 6.4 | |||
| 5 | 27 | 98 | 3.21 | 31.5 | 0.97 | 9.5 | |||
| 6 | 32 | 99 | 8.12 | 80.4 | 1.42 | 14.1 | TULP1 | LCA, RP | Concordant |
| 6 | 20 | 106 | 0.09 | 1.0 | 0.09 | 1.0 | |||
| 7 | 51 | 78 | 0.07 | 0.5 | 0 | 0.0 | TSPAN12 | FEVR | Non-concordant |
| IMPDH1 | RP | Concordant | |||||||
| OPN1SW | Tritanopia | Non-concordant | |||||||
| 8 | 6 | 18 | 0 | 0.0 | 0 | 0.0 | |||
| 9 | 29 | 0 | 0 | 0.0 | 0 | 0.0 | |||
| 10 | 5 | 126 | 0.15 | 1.9 | 0.16 | 2.0 | |||
| 10 | 68 | 96 | 3.9 | 37.4 | 0.37 | 3.6 | CDH23 | USH | Non-concordant |
| CDHR1 | CRD | Non-concordant | |||||||
| RGR | RP | Concordant | |||||||
| PDE6C | CD | Non-concordant | |||||||
| RBP4 | RPE dystrophy | Non-concordant | |||||||
| PAX2 | Coloboma | Non-concordant | |||||||
| 11 | 21 | 117 | 0.16 | 1.9 | 0 | 0.0 | USH1C | USH | Non-concordant |
| 11 | 18 | 63 | 0.26 | 1.6 | 0.18 | 1.1 | |||
| 11 | 14 | 88 | 7.32 | 64.4 | 2.32 | 20.4 | MYO7A | USH | Non-concordant |
| 11 | 14 | 88 | 0.24 | 2.1 | 0.08 | 0.7 | C1QTNF5 | MCDR | Non-concordant |
| 14 | 19 | 77 | 2.99 | 23.0 | 0.41 | 3.2 | SPATA7 | LCA, RP | Concordant |
| TTC8 | BBS, RP | Concordant | |||||||
| 16 | 6 | 0 | 0 | 0.0 | 0 | 0.0 | |||
| 16 | 9 | 97 | 5.79 | 56.2 | 0.22 | 2.1 | RPGRIP1L | JBTS | Non-concordant |
| BBS2 | BBS | Non-concordant | |||||||
| CNGB1 | RP | Concordant | |||||||
| 17 | 16 | 50 | 0 | 0.0 | 0 | 0.0 | UNC119 | CRD | Non-concordant |
| 17 | 22 | 58 | 0 | 0.0 | 0 | 0.0 | CA4 | RP | Concordant |
| 18 | 35 | 91 | 17.08 | 155.4 | 0.64 | 5.8 | |||
| 18 | 11 | 133 | 0.13 | 1.7 | 0 | 0.0 | |||
| 19 | 8 | 1 | 0 | 0.0 | 0 | 0.0 | |||
| 21 | 14 | 93 | 5.78 | 53.8 | 0.3 | 2.8 | |||
| 22 | 5 | 47 | 3.36 | 15.8 | 0 | 0.0 | |||
Abbreviations: BBS, Bardet Biedl syndrome; CD, cone dystrophy; CRD, cone rod dystrophy; FA, fundus albipunctatus; FEVR, familial exudative vitreoretinopathy; JS, Joubert syndrome; LCA, Leber congenital amaurosis; MD, macular dystrophy; QR, qualifying rate (percentage of qualifying SNPs/total number of SNPs); QS, qualifying score (coverage × QR/10); RP, retinitis pigmentosa; SLS, senior loken syndrome; Stickler, Stickler syndrome; Wagner, Wagner disease.
Length is in Mb; coverage is the average number of SNPs/Mb.
The line in bold contains the causative gene (see Results).