Index | Phenotype | Pre-screening | Gene | Mutation | Allele State | Read reference NGS | Read variant NGS | Mutation verified by Sanger and co-segregation | Comment |
---|---|---|---|---|---|---|---|---|---|
CIC03282, F1388 | Stargardt | ABCA4 microarray | ABCA4 | c.1268A > G p.H423R | het | 77 | 61 | yes | but reported as polymorphism [71] |
 |  |  |  | c.6764G > T p.S2255I no additional variants in lower covered exons | het | 2 | 7 | yes | but reported as polymorphism [72] |
 |  |  | CFH | c.3482C > A p.P1161Q | het | 77 | 52 | yes | conserved, probably damaging |
 |  |  |  | c.1204C > T p.H402Y | het | 94 | 87 | yes | AMD |
CIC01269, F761 | adRP | - | RP1L1 | c.5959C > T p.Q1987X | het | 145 | 150 | yes, did not co-segregate | pass to whole exome sequencing |
CIC01312, F795 | adCD with post-receptoral defects | RHO, PDE6B, GNAT1 adRP chip | CUBN | c.127C > T p.R43X | het | 139 | 102 | yes, did not co-segregate | pass to whole exome sequencing |
 |  |  | CUBN | c.9340G > A p.G3114S | het | 61 | 44 | yes, did not co-segregate |  |
 |  |  | GUCY2D | c.1499C > T p.P500L | het | 41 | 34 | yes, did not co-segregate |  |
 |  |  | TRPM1 | c.3904T > C p.C1302R | het | 102 | 99 | yes, did not co-segregate |  |
CIC03225, F1362 | arRP consang. | arRP chip | PROM1 | c.314A > G p.Y105C | het | 120 | 115 | yes, but no additional mutation | no homo, no compound hets, pass to whole exome sequencing |
 |  |  | GUCY2D | c.2917G > A p.V973L | het | 6 | 2 | false positive, not found by Sanger |  |
 |  |  | DSCAML1 | c.592C > T p.R198C | het | 70 | 81 | yes, but no additional mutation |  |
 |  |  | TBC1D24 | c.641G > A p.R214H | het | 27 | 12 | yes, but no additional mutation |  |
 |  |  | TMEM67 | c.1700A > G p.Y567C | het | 80 | 58 | yes, but no additional mutation |  |
CIC04757 F2364 | Index and affected sister early onset arCD, macro-cephaly and mental retardation in affected sister consang. | - | IMPG2 | c.3439C > T p.P1147S | homo | 0 | 140 | no | Polyphen and Sift benign, not conserved |
 |  |  | PKD2L1 | c.1027C > T p.R343C | het | 63 | 68 |  |  |
 |  |  |  | c.1202T > G p.V401G | het | 25 | 19 |  | appeared also het in 11 of our samples appeared also het in affected sister but no other mutation in less covered exons |
 |  |  | DFNB31 | c.1943C > A p.S648Y | het | 7 | 7 | yes | affected sister also both variants but both come from father, no other variant in lower covered region. |
 |  |  |  | c.2644C > A p.R882S | het | 27 | 14 | yes |  |
 |  |  | EYS | c.7597A > G p.K2533E | het | 151 | 149 | yes | Affected sister does not carry this variant |
 |  |  | RPGRIP1 | c.2417C > T p.T806I | het | 138 | 132 | no | not conserved |
CIC04152, F1955 | male x-linked cCSNB, has affected nephew | NYX | TRPM1 | c.470C > T p.S157F | het | 118 | 130 | yes, no other het mutation. | x-linked inheritance and phenotype verification |