ID | Type | Consang. | Gene | NM | Allele State | Exon | cDNA | Protein | Coseg. | Conservation | Polyphen2 | Sift | Mutation taster | References |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
High confidence | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | |
CIC00137 | simplex | Â | ABCA4 | NM_000350.2 | Ho | 47 | c.6394G>A | p.(E2132K) | + | Highly | Prd | D | Dc | Novel |
CIC00765 | Ar | + | ABCA4 | NM_000350.2 | Ho | 47 | c.6445C>T | p.(R2149*) | + | - | - | - | - | (Lewis et al. 1999) (rs61750654) |
CIC03436 | Ar | + | ABCA4 | NM_000350.2 | Ho | 42 | c.5892del | p.(G1965Efs*9) | Np | - | - | - | - | a |
CIC04412 | simplex | Â | ABC4A | NM_000350.2 | Het | 34 | c.4793C>A | p.(A1598D) | + | Weakly | Pd | T | Dc | (rs61750155) [9] |
 |  |  | ABCA4 | NM_000350.2 | Het | 28 | c.4234C>T | p.(Q1412*) | + | - | - | - | - | (rs61750137) [9] |
CIC04645 | Ar | + | ABCA4 | NM_000350.2 | Ho | 13 | c.1924T>C | p.(F642L) | Np | Moderately | B | D | Dc | Novel, but c.1924T>A p.F642I in [80] |
CIC05087 | simplex | Â | ABCA4 | NM_000350.2 | Ho | IVS 11 | c.1554+1G>C | r.(spl?) | Np | Highly | - | - | - | Novel |
CIC05853 | simplex | + | ABC4A | NM_000350.2 | Ho | 22 | c.3259G>A | p.E1087K | Np | Highly | Prd | D | Dc | (rs61751398) [81] |
CIC05854 | Ar | + | ABC4A | NM_000350.2 | Ho | 35 | c.4919G>A | p.(R1640Q) | + | Highly | Prd | D | Dc | (rs61751403) [82] |
CIC05989 | simplex | Â | ABC4A | NM_000350.2 | Het | 34 | c.4837G>A | p.(D1613N) | + | Not | B | D | Dc | Novel |
 |  |  | ABC4A | NM_000350.2 | Het | 10 | c.1302del | p.(Q437Rfs*12) | + | - | - | - | - | Novel |
 |  |  | ABCA4 | NM_000350.2 | Het | 38 | c.5318C>T | p.(A1773V) | + | Moderately | Prd | D | Dc | [83] |
CIC06170 | simplex | Â | ABC4A | NM_000350.2 | Het | 44 | c.6089G>A | p.(R2030Q) | + | Highly | Prd | D | Dc | (Lewis et al. 1999) (rs61750641) |
 |  |  | ABC4A | NM_000350.2 | Het | IVS 24 | c.3607+3A>T | r.(spl?) | + | Moderately | - | - | - | Novel |
 |  |  | ABCA4 | NM_000350.2 | Het | 14 | c.2034G>T | p.(K678N) | + | Highly | Prd | D | Dc | [84] |
CIC06735 | Ar | + | ABC4A | NM_000350.2 | Ho | 42 | c.5892del | p.(G1965Efs*9) | Np | - | - | - | - | a |
CIC06913 | Ar | + | ABCA4 | NM_000350.2 | Ho | 21 | c.3056C>T | p.(T1019M) | + | Highly | Prd | D | Dc | (rs201855602) [85] |
CIC04239 | Ar | + | CDHR1 | NM_033100.3 | Ho | 9 | c.838C>T | p.(R280*) | Np | - | - | - | Â | Novel |
CIC06568 | Ar | + | CERKL | NM_001030311.2 | Ho | 8 | c.1090C>T | p.(R364*) | Np | - | - | - | - | Thesis (Sergouniotis P. 2012) b |
CIC07299 | simplex | + | PDE6C | NM_006204.3 | Ho | 2 | c.542del | p.(A181Efs*13) | Np | - | - | - | - | Novel |
CIC05218 | Ar | + | PDE6C | NM_006204.3 | Ho | IVS 10 | c.1413+3A>T | r.(spl?) | Np | Not | - | - | - | Novel |
CIC05563 | Ad | Â | SEMA4A | NM_022367.3 | Het | 4 | c.302T>C | p.(I101T) | + | Moderately | Prd | D | Dc | Novel (rs149652495) |
CIC07563 | simplex | Â | SEMA4A | NM_022367.3 | Ho | 3 | c.241C>T | p.(R81*) | Np | - | - | - | - | Novel |
CIC00324 | Ad | Â | GUCY2D | NM_000180.3 | Het | 13 | c.2512C>T | p.(R838C) | + | Highly | Prd | D | Dc | (rs61750172) [10] |
CIC03249 | Ad | Â | GUCY2D | NM_000180.3 | Het | 13 | c.2512C>T | p.(R838C) | + | Highly | Prd | D | Dc | (rs61750172) [10] |
CIC04347 | Ad | Â | GUCY2D | NM_000180.3 | Het | 13 | c.2512C>T | p.(R838C) | + | Highly | Prd | D | Dc | (rs61750172) [10] |
CIC04918 | Ad | Â | GUCY2D | NM_000180.3 | Het | 13 | c.2512C>T | p.(R838C) | Np | Highly | Prd | D | Dc | (rs61750172) [10] |
CIC06757 | Ad | Â | PRPH2 | NM_000322.4 | Het | 1 | c.514C>T | p.(R172W) | + | Moderately | Prd | D | Dc | (rs61755792) [86] |
CIC03621 | Ad | Â | PRPH2 | NM_000322.4 | Het | 1 | c.1-c581+?del | - | + | - | - | - | - | Novel |
CIC00535 | Ad | Â | PROM1 | NM_006017.2 | Het | 10 | c.1117C>T | p.(R373C) | + | Not | Pd | D | Dc | (rs137853006) [3] |
CIC01196 | simplex | Â | PROM1 | NM_006017.2 | Ho | 12 | c.1354dup | p.(Y452Lfs*13) | + | - | - | - | - | [71] |
CIC07045 | simplex | Â | PROM1 | NM_006017.2 | Ho | IVS 17 | c.1984-1G>T | r.(spl?) | Np | Highly | - | - | - | Novel (rs373680665) |
CIC06642c | Ad | Â | PROM1 | NM_006017.2 | Het | 1 | c.7dup | p.(L3Pfs*28) | + | - | - | - | - | Novel |
CIC06698c | Ad | Â | PROM1 | NM_006017.2 | Het | 1 | c.7dup | p.(L3Pfs*28) | + | - | - | - | - | Novel |
CIC04945 | simplex | Â | PROM1 | NM_006017.2 | Het | 23 | c.2383T>C | p.(W795R) | + | Highly | Prd | D | Dc | Novel |
 |  |  | PROM1 | NM_006017.2 | Het | IVS 13 | c.1579-1G>C | r.(spl?) | + | Highly | - | - | - | Novel |
CIC04965 | Ad | Â | CRX | NM_000554.4 | Het | 4 | c.608_609del | p.(S203Ffs*32) | + | - | - | - | - | Novel |
CIC3750 | simplex | Â | CRX | NM_000554.4 | Het | 3 | c.121C>T | p.(R41W) | + | Highly | Prd | D | Dc | (rs104894672) [70] |
CIC06321 | simplex | + | RPGRIP1 | NM_020366.3 | Ho | 14 | c.2021C>A | p.(P674H) | + | Highly | Prd | T | Dc | Novel |
CIC00190 | simplex | Â | AIPL1 | NM_014336.4 | Het | 5 | c.769C>T | p.(L257F) | + | Moderately | Prd | D | Dc | Novel |
 |  |  | AIPL1 | NM_014336.4 | Het | 5 | c.767T>G | p.(I256S) | + | Moderately | B | D | Dc | Novel |
Lower confidence d | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | |
CIC00162 | Ar | Â | ABCA4 | NM_000350.2 | Het | 31 | c.4546_4547del | p.(Q1516Afs*38) | + | - | - | - | - | Novel |
 |  |  | ABCA4 | NM_000350.2 | Het | 16 | c.2463G>A | p.(W821*) | + | - | - | - | - | Novel |
CIC05987 | Ar | Â | ABC4A | NM_000350.2 | Het | 22 | c.3295T>C | p.(S1099P) | + | Highly | Pd | D | Dc | (rs61750119) [87] |
 |  |  | ABC4A | NM_000350.2 | Het | 22 | c.3322C>T | p.(R1108C) | Np | - | - | - | - | [88] |
CIC06694 | simplex | Â | ABC4A | NM_000350.2 | Het | IVS36 | c.5196+1G>A | r.(spl?) | Np | - | - | - | - | [62] |
 |  |  | ABC4A | NM_000350.2 | Het | 22 | c.3322C>T | p.(R1108C) | Np | - | - | - | - | [86] |
CIC02712 | simplex | + | PDE6C | NM_006204.3 | Het | 10 | c.1325T>A | p.(M442K) | Np | Moderately | Pd | D | Dc | Novel |
 |  |  | PDE6C | NM_006204.3 | Het | 10 | c.1375C>G | p.(Q459E) |  | Weakly | B | T | Dc | Novel |
CIC00597 | simplex | Â | GUCY2D | NM_000180.3 | Het | 14 | c.2747T>C | p.(I916T) | + | Moderately | Prd | D | Dc | [89] |
CIC06352 | simplex | Â | GUCA1A | NM_000409.3 | Het | 3 | c.149C>T | p.(P50L) | Np | Moderately | B | T | Dc | (rs104893968) [90] |
CIC07188 | simplex | Â | PROM1 | NM_006017.2 | Het | 12 | c.1354dup | p.(Y452Lfs*13) | Np | - | - | - | - | [71] |
 |  |  | PROM1 | NM_006017.2 | Het | IVS 12 | c.1454+2>C | r.(spl?) | Np | Highly | - | - | - | Novel |
CIC03241 | simplex | Â | CRX | NM_000554.4 | Het | 4 | c.564dup | p.(A189Rfs*47) | + | - | - | - | - | Not clear if same mutation as in [69] |
CIC07569 | simplex | Â | CRX | NM_000554.4 | Het | IVS 3 | c.252+1G>A | r.(spl?) | Np | Highly | - | - | - | Novel |