| AIPL1 |
2 |
Val71Phe TGT>TGA |
c.213T>A |
3 |
Leber Congenital Amaurosis |
| AIPL1 |
2 |
Met79Thr ATG>ACG |
c.236T>C |
3 |
Leber Congenital Amaurosis |
| AIPL1 |
3 |
IVS2-2 A>G |
c.277-2A>G |
3 |
Leber Congenital Amaurosis |
| AIPL1 |
4 |
Gln163Stop CAG>TAG |
c.487C>T |
3 |
Leber Congenital Amaurosis |
| AIPL1 |
4 |
Gly183Stop GGA>TGA |
c.547G>T |
3 |
Leber Congenital Amaurosis |
| AIPL1 |
4 |
Ala197Pro GCC>CCC |
c.589G>C |
3 |
Leber Congenital Amaurosis |
| AIPL1 |
5 |
Cys239Arg TGC>CGC |
c.715T>C |
3 |
Leber Congenital Amaurosis |
| AIPL1 |
5 |
Gly262Ser G(GC)>A(GC) |
c.784G>A |
2 |
Leber Congenital Amaurosis |
| AIPL1 |
6 |
Ala336 del2gcAG |
c.1008-1009delAG |
3 |
Leber Congenital Amaurosis |
| AIPL1 |
6 |
Trp278Stop TGG>TGA |
C.834G>A |
3 |
Leber Congenital Amaurosis |
| AIPL1 |
6 |
Glu280 ins6aatGAGGCC |
c.838-839insGAGGCC |
3 |
Leber Congenital Amaurosis |
| CRB1 |
1 |
Leu19 ins1cT |
c.55_56insT |
3 |
Leber Congenital Amaurosis |
| CRB1 |
2 |
Cys85 ins2actTG |
c.252_253insTG |
3 |
Leber Congenital Amaurosis |
| CRB1 |
2 |
Gly169 del1gatG |
c.505delG |
3 |
Leber Congenital Amaurosis |
| CRB1 |
2 |
Cys195Phe TGC>TTC |
c.584G>T |
3 |
Leber Congenital Amaurosis |
| CRB1 |
2 |
Asn37 del1aaT |
|
3 |
Leber Congenital Amaurosis |
| CRB1 |
4 |
Thr289Met ACG>ATG |
c.866C>T |
3 |
Leber Congenital Amaurosis |
| CRB1 |
5 |
Gln362Stop CAA>TAA |
c.1084C>T |
3 |
Leber Congenital Amaurosis |
| CRB1 |
5 |
Cys383Tyr TGT>TAT |
c.1148G>A |
3 |
Leber Congenital Amaurosis |
| CRB1 |
6 |
Gln449Stop CAA>TAA |
c.1345C>T |
3 |
Leber Congenital Amaurosis |
| CRB1 |
6 |
Cys480Arg TGT>CGT |
c.1438T>C |
3 |
Leber Congenital Amaurosis |
| CRB1 |
6 |
Phe488Ser TTT>TCT |
c.1463T>C |
3 |
Leber Congenital Amaurosis |
| CRB1 |
6 |
Val578Glu GTG>GAG |
c.1733T>A |
3 |
Leber Congenital Amaurosis |
| CRB1 |
6 |
Cys587Tyr TGT>TAT |
c.1760G>A |
3 |
Leber Congenital Amaurosis |
| CRB1 |
6 |
Cys681Tyr TGT>TAT |
c.2042G>A |
3 |
Leber Congenital Amaurosis |
| CRB1 |
6 |
Glu710Gln G(AG)>C(AG) |
c.2128G>C |
2 |
Leber Congenital Amaurosis |
| CRB1 |
7 |
Met741Thr ATG>ACG |
c.2222T>C |
3 |
Leber Congenital Amaurosis |
| CRB1 |
7 |
Thr745Met ACG>ATG |
c.2234C>T |
3 |
Leber Congenital Amaurosis |
| CRB1 |
7 |
Pro748 del3ccATC |
c.2244_2246delATC |
3 |
Leber Congenital Amaurosis |
| CRB1 |
7 |
Leu751Stop TTA>TAA |
c.2252T>A |
3 |
Leber Congenital Amaurosis |
| CRB1 |
7 |
Arg764Cys CGT>TGT |
c.2290C>T |
3 |
Leber Congenital Amaurosis |
| CRB1 |
7 |
Leu767Pro CTA>CCA |
c.2300T>C |
3 |
Leber Congenital Amaurosis |
| CRB1 |
7 |
Lys801Stop AAG>TAG |
c.2401A>T |
3 |
Leber Congenital Amaurosis |
| CRB1 |
7 |
Gly846Arg GGA>AGA |
c.2536G>A |
3 |
Leber Congenital Amaurosis |
| CRB1 |
7 |
Gly850Ser GGC>AGC |
c.2548G>A |
2 |
Leber Congenital Amaurosis |
| CRB1 |
7 |
Ile852Thr ATC>ACC |
c.2555T>C |
2 |
Leber Congenital Amaurosis |
| CRB1 |
8 |
Cys896Stop TGT>TGA |
c.2688T>A |
3 |
Leber Congenital Amaurosis |
| CRB1 |
9 |
Cys948Tyr (T)GT>(T)AT |
c.2843G>A |
3 |
Leber Congenital Amaurosis |
| CRB1 |
9 |
Ser1025Ile AGT>ATT |
c.3074G>T |
3 |
Leber Congenital Amaurosis |
| CRB1 |
9 |
Gly1103Arg GGA>AGA |
c.3307G>A |
3 |
Leber Congenital Amaurosis |
| CRB1 |
9 |
Leu1107Pro CTC>CCC |
c.3320T>C |
3 |
Leber Congenital Amaurosis |
| CRB1 |
9 |
Leu1107Arg CTC>CGC |
c.3320T>G |
3 |
Leber Congenital Amaurosis |
| CRB1 |
9 |
Cys1174Gly TGT>GGT |
c.3520T>G |
3 |
Leber Congenital Amaurosis |
| CRB1 |
9 |
Cys1218Phe TGC>TTC |
c.3653G>T |
3 |
Leber Congenital Amaurosis |
| CRB1 |
11 |
Cys1332Stop TGC>TGA |
c.3996C>A |
3 |
Leber Congenital Amaurosis |
| CRB1 |
11 (iso 1) |
Asn1350Ser AAT>AGT |
c.4049A>G |
0 |
Leber Congenital Amaurosis |
| CRX |
3 |
Thr155 ins4acGGCA |
c.464_465insGGCA |
3 |
Leber Congenital Amaurosis |
| CRX |
3 |
Trp163Stop TGG>TAG |
c.488G>A |
3 |
Leber Congenital Amaurosis |
| CRX |
3 |
Ser167 del2tcAG |
c.501_502delAG |
3 |
Leber Congenital Amaurosis |
| CRX |
3 |
Tyr191 del1cccT |
c.571delT |
3 |
Leber Congenital Amaurosis |
| CRX |
3 |
Tyr195Stop TAC>TAA |
c.585C>A |
3 |
Leber Congenital Amaurosis |
| CRX |
3 |
Ser235 del1agC |
c.705delC |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
2 |
Asn129Lys AAC>AAA |
c.387C>A |
2 |
Leber Congenital Amaurosis |
| GUCY2D |
2 |
Asn129 del1aaC |
c.387delC |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
3 |
Thr312Pro ACG>CCG |
c.934A>C |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
3 |
Arg313Cys CGC>TGC |
c.937C>T |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
4 |
Ser448Stop TCG>TAG |
c.1343C>A |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
9 |
Arg588Trp CGG>TGG |
c.1762C>G |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
10 |
Arg660Stop CGA>TGA |
c.1978C>T |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
12 |
Arg768Trp CGG>TGG |
c.2302C>T |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
12 |
Arg768Gln CGG>CAG |
c.2303G>A |
2 |
Leber Congenital Amaurosis |
| GUCY2D |
13 |
Arg822Pro CGG>CCG |
c.2465G>C |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
14 |
Leu865 del1ttG |
c.2595delG |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
15 |
Ser935Leu TCG>TTG |
c.2804C>T |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
15 |
Leu954Pro CTG>CCG |
c.2861T>C |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
15 |
Arg966 del1cgC |
c.2898delC |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
15 |
Ser981 del1tcG |
c.2943delG |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
16 |
Cys984Tyr TGC>TAC |
c.2951G>A |
3 |
Leber Congenital Amaurosis |
| GUCY2D |
16 |
Arg995Trp CGG>TGG |
c.2983C>T |
3 |
Leber Congenital Amaurosis |
| IQCB1 |
5 |
Ala111 del1gcT |
c.333delT |
3 |
Leber Congenital Amaurosis |
| IQCB1 |
6 |
Phe141 del2cacTT |
c.421_422delTT |
3 |
Leber Congenital Amaurosis |
| IQCB1 |
11 |
Glu346Stop GAG>TAG |
c.1036G>T |
3 |
Leber Congenital Amaurosis |
| IQCB1 |
11 |
Arg364Stop CGA>TGA |
c.1090C>T |
3 |
Leber Congenital Amaurosis |
| IQCB1 |
11 |
Arg332Stop CGA>TGA |
c.994C>T |
3 |
Leber Congenital Amaurosis |
| IQCB1 |
13 |
Arg455Stop CGA>TGA |
c.1363C>T |
3 |
Leber Congenital Amaurosis |
| IQCB1 |
13 |
Arg461Stop CGA>TGA |
c.1381C>T |
3 |
Leber Congenital Amaurosis |
| IQCB1 |
14 |
Arg489Stop CGA>TGA |
c.1465C>T |
3 |
Leber Congenital Amaurosis |
| IQCB1 |
14 |
His506 del2cagCA |
c.1516_1517delCA |
3 |
Leber Congenital Amaurosis |
| KCNJ13 |
3 |
Arg166Stop CGA>TGA |
c.496C>T |
3 |
Leber Congenital Amaurosis |
| LCA5 |
5 |
Gln279Stop CAG>TAG |
c.835C>T |
3 |
Leber Congenital Amaurosis |
| LCA5 |
7 |
Asn383 del1aaC |
c.1149delC |
3 |
Leber Congenital Amaurosis |
| LRAT |
2 |
Met73 del2cacAT |
c.217_218delAT |
3 |
Leber Congenital Amaurosis |
| LRAT |
2 |
Ser175Arg AGT>AGA |
c.525T>A |
3 |
Leber Congenital Amaurosis |
| NMNAT1 |
4 |
Glu121 del1gA |
c.362delA |
3 |
Leber Congenital Amaurosis |
| NMNAT1 |
5 |
Trp169Stop TGG>TGA |
c.507G>A |
3 |
Leber Congenital Amaurosis |
| NMNAT1 |
5 |
Arg207Trp CGG>TGG |
c.619C>T |
3 |
Leber Congenital Amaurosis |
| NMNAT1 |
5 |
Arg237Cys CGC>TGC |
c.709C>T |
2 |
Leber Congenital Amaurosis |
| NMNAT1 |
5 |
Glu257Lys GAG>AAG |
c.769G>A |
2 |
Leber Congenital Amaurosis |
| NPHP6 |
3 |
Thr55 del4attACTC |
c.163_166delACTC |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
5 |
Glu97Stop GAA>TAA |
c.289G>T |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
6 |
Arg108Stop CGA>TGA |
c.322C>T |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
6 |
Lys127 del4aaAGAT |
c.381_384delAGAT |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
8 |
Lys170Stop AAG>TAG |
c.508A>T |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
9 |
IVS8-2 A>G |
c.517-2A>G |
2 |
Leber Congenital Amaurosis |
| NPHP6 |
14 |
His406 del2cAT |
c.1217_1218delAT |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
17 |
Lys553 del1ctgA |
c.1657delA |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
17 |
Ser570Stop TCA>TGA |
c.1709C>G |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
18 |
Leu594Stop TTG>TAG |
c.1781T>A |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
20 |
IVS19-2 A>G |
c.1910-2A>G |
2 |
Leber Congenital Amaurosis |
| NPHP6 |
21 |
Asp706 ins5gaTCAGC |
c.2117_2118insTCAGC |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
25 |
Leu865 del2ttgCT |
c.2593_2594delCT |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
28 |
IVS27-2 A>G |
c.3104-2A>G |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
28 |
Ser1056 ins1tcA |
c.3167_3168insA |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
28 |
Glu1096Gly GAA>GGA |
c.3287A>G |
2 |
Leber Congenital Amaurosis |
| NPHP6 |
28 |
Glu1098Stop GAA>TAA |
c.3292G>A |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
29 |
IVS28-1 G>A |
c.3310-1G>A |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
31 |
Arg1271Stop CGA>TGA |
c.3811C>T |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
32 |
Ile1372 del2gaaAT |
c.4114_4115delAT |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
35 |
IVS34-3 del1gC |
c.4438-3delC |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
35 |
Lys1552 del3aAAG |
c.4655_4657delAAG |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
36 |
Lys1575Stop AAG>TAG |
c.4723A>T |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
37 |
Gln1628Stop CAG>TAG |
c.4882C>T |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
37 |
Gln1654 del2cAA |
c.4961_4962delAA |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
37 |
Glu1656Stop GAA>TAA |
c.4966G>T |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
37 |
Arg1655 del2caaAG |
|
3 |
Leber Congenital Amaurosis |
| NPHP6 |
38 |
Thr1721 del1acT |
c.5163delT |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
38 |
Glu1728Stop GAA>TAA |
c.5182G>T |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
38 |
IVS38+1 G>A |
c.5226+1G>A |
2 |
Leber Congenital Amaurosis |
| NPHP6 |
40 |
Gln1830 del1cA |
c.5489delA |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
40 |
Arg1838 del4cttAGAG |
c.5512_5515delAGAG |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
41 |
IVS40-1 G>C |
c.5587-1G>C |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
41 |
Lys1870Arg AAA>AGA |
c.5609A>G |
2 |
Leber Congenital Amaurosis |
| NPHP6 |
41 |
Gly1890Stop GGA>TGA |
c.5668G>T |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
42 |
Val1936 del5gtCTTTA |
c.5808_5812delCTTTA |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
42 |
Leu1949 del1cT |
c.5846delT |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
43 |
Glu1956Stop GAG>TAG |
c.5866G>T |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
46 |
Val2093 del1caaG |
c.6277delG |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
48 |
Glu2200 del1gA |
c.6599delA |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
54 |
Leu2440 ins4attCTCT |
c.7318_7319insCTCT |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
54 |
Val2445 ins1gtA |
c.7335_7336insA |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
54 |
Leu2448 del2cTT |
c.7343_7344delTT |
3 |
Leber Congenital Amaurosis |
| NPHP6 |
IVS26 |
IVS26+1655 A>G |
c.2991+1655A>G |
3 |
Leber Congenital Amaurosis |
| RD3 |
2 |
IVS2+1 G>A |
c.296+1G>A |
3 |
Leber Congenital Amaurosis |
| RDH12 |
1 |
Ala19 del4gcTCCA |
c.56_59delTCCA |
3 |
Leber Congenital Amaurosis |
| RDH12 |
2 |
Ala47Thr GCC>ACC |
c.139G>A |
2 |
Leber Congenital Amaurosis |
| RDH12 |
2 |
Thr49Met ACG>ATG |
c.146C>T |
3 |
Leber Congenital Amaurosis |
| RDH12 |
2 |
Thr55Met ACG>ATG |
c.164C>T |
3 |
Leber Congenital Amaurosis |
| RDH12 |
3 |
Leu99Ile CTA>ATA |
c.295C>A |
2 |
Leber Congenital Amaurosis |
| RDH12 |
4 |
Ala126Glu GCG>GAG |
c.377C>A |
3 |
Leber Congenital Amaurosis |
| RDH12 |
4 |
Ala126Val GCG>GTG |
c.377C>T |
2 |
Leber Congenital Amaurosis |
| RDH12 |
5 |
Arg169Gln CGG>CAG |
c.506G>A |
2 |
Leber Congenital Amaurosis |
| RDH12 |
5 |
Ala206Asp GCC>GAC |
c.617C>A |
3 |
Leber Congenital Amaurosis |
| RDH12 |
6 |
Val238 ins1gtC |
c.713_714insC |
3 |
Leber Congenital Amaurosis |
| RDH12 |
6 |
Arg239Trp CGG>TGG |
c.715C>T |
3 |
Leber Congenital Amaurosis |
| RDH12 |
6 |
Arg259 del1cG |
c.776delG |
2 |
Leber Congenital Amaurosis |
| RDH12 |
6 |
Glu260 del1gaG |
c.780delG |
3 |
Leber Congenital Amaurosis |
| RDH12 |
7 |
Arg295Stop CGA>TGA |
c.883C>T |
3 |
Leber Congenital Amaurosis |
| RPE65 |
1 |
Met1Thr ATG>ACG |
c.2T>C |
3 |
Leber Congenital Amaurosis |
| RPE65 |
2 |
Leu22Pro CTG>CCG |
c.65T>C |
3 |
Leber Congenital Amaurosis |
| RPE65 |
2 |
Val30 ins1gT |
|
3 |
Leber Congenital Amaurosis |
| RPE65 |
3 |
Gly40Ser GGC>AGC |
c.118G>A |
2 |
Leber Congenital Amaurosis |
| RPE65 |
3 |
Arg44Gln CGA>CAA |
c.131G>A |
2 |
Leber Congenital Amaurosis |
| RPE65 |
3 |
Tyr79His TAC>CAC |
c.235T>C |
2 |
Leber Congenital Amaurosis |
| RPE65 |
3 |
IVS2-2 A>T |
c.95-2A>T |
3 |
Leber Congenital Amaurosis |
| RPE65 |
4 |
Arg91Trp CGG>TGG |
c.271C>T |
3 |
Leber Congenital Amaurosis |
| RPE65 |
4 |
Arg91Gln CGG>CAG |
c.272G>A |
2 |
Leber Congenital Amaurosis |
| RPE65 |
4 |
Glu102Lys GAA>AAA |
c.304G>A |
2 |
Leber Congenital Amaurosis |
| RPE65 |
4 |
Glu102Stop GAA>TAA |
c.304G>T |
3 |
Leber Congenital Amaurosis |
| RPE65 |
4 |
Lys96 ins1gagA |
|
3 |
Leber Congenital Amaurosis |
| RPE65 |
5 |
Arg124Stop CGA>TGA |
c.370C>T |
3 |
Leber Congenital Amaurosis |
| RPE65 |
5 |
Tyr144Asp TAC>GAC |
c.430T>G |
3 |
Leber Congenital Amaurosis |
| RPE65 |
5 |
Ala145Thr GCT>ACT |
c.433G>A |
2 |
Leber Congenital Amaurosis |
| RPE65 |
5 |
Thr162Pro ACA>CCA |
c.484A>C |
3 |
Leber Congenital Amaurosis |
| RPE65 |
5 |
Gln165 ins1caG |
c.494_495insG |
3 |
Leber Congenital Amaurosis |
| RPE65 |
6 |
Asp167Tyr GAT>TAT |
c.499G>T |
3 |
Leber Congenital Amaurosis |
| RPE65 |
6 |
Asn205 del2aAC |
|
3 |
Leber Congenital Amaurosis |
| RPE65 |
7 |
Arg234Stop CGA>TGA |
c.700C>T |
3 |
Leber Congenital Amaurosis |
| RPE65 |
7 |
Tyr239Asp TAC>GAC |
c.715T>G |
3 |
Leber Congenital Amaurosis |
| RPE65 |
9 |
His313Arg CAT>CGT |
c.938A>G |
2 |
Leber Congenital Amaurosis |
| RPE65 |
9 |
Tyr318Asn TAT>AAT |
c.952T>A |
3 |
Leber Congenital Amaurosis |
| RPE65 |
10 |
Leu341Ser TTA>TCA |
c.1022T>C |
3 |
Leber Congenital Amaurosis |
| RPE65 |
10 |
Lys354 ins1gtgA |
c.1059_1060insA |
3 |
Leber Congenital Amaurosis |
| RPE65 |
10 |
Pro363Thr CCT>ACT |
c.1087C>A |
2 |
Leber Congenital Amaurosis |
| RPE65 |
10 |
Tyr368His TAT>CAT |
c.1102T>C |
2 |
Leber Congenital Amaurosis |
| RPE65 |
10 |
Tyr368Cys TAT>TGT |
c.1103A>G |
3 |
Leber Congenital Amaurosis |
| RPE65 |
12 |
Glu417Gln GAG>CAG |
c.1249G>C |
2 |
Leber Congenital Amaurosis |
| RPE65 |
12 |
Tyr431Cys TAC>TGC |
c.1292A>G |
3 |
Leber Congenital Amaurosis |
| RPE65 |
13 |
Val473Asp GTT>GAT |
c.1418T>A |
3 |
Leber Congenital Amaurosis |
| RPE65 |
14 |
Arg515Trp CGG>TGG |
c.1543C>T |
3 |
Leber Congenital Amaurosis |
| RPE65 |
14 |
Phe530 del1ttC |
c.1590delC |
3 |
Leber Congenital Amaurosis |
| SPATA7 |
5 |
Arg85Stop CGA>TGA |
c.253C>T |
3 |
Leber Congenital Amaurosis |
| SPATA7 |
5 |
Arg108Stop CGA>TGA |
c.322C>T |
3 |
Leber Congenital Amaurosis |
| SPATA7 |
11 |
Arg395Stop CGA>TGA |
c.1183C>T |
3 |
Leber Congenital Amaurosis |
| TULP1 |
7 |
IVS7+2 T>C |
c.718+2T>C |
3 |
Leber Congenital Amaurosis |
| TULP1 |
10 |
Gln301Stop CAG>TAG |
c.901C>T |
3 |
Leber Congenital Amaurosis |
| TULP1 |
14 |
IVS14+1 G>A |
c.1495+1G>A |
3 |
Leber Congenital Amaurosis |
| TULP1 |
15 |
Phe528 ins6gccTTCGCC |
c.1581_1582insTTCGCC |
3 |
Leber Congenital Amaurosis |
| C1QTNF5 |
3 |
Ser163Arg AGC>AGG |
c.489C>G |
3 |
Retinitis Pigmentosa_AD |
| IMPDH1 |
10 |
Arg316Pro CGA>CCA |
c.947G>C |
3 |
Retinitis Pigmentosa_AD |
| NR2E3 |
2 |
Gly56Arg GGG>AGG |
c.166G>A |
3 |
Retinitis Pigmentosa_AD |
| PRPF3 |
11 |
Pro493Ser CCC>TCC |
p.1477C>T |
3 |
Retinitis Pigmentosa_AD |
| PRPF31 |
4 |
Leu107 del4cTGAG |
c.320_322+1delTGAG |
3 |
Retinitis Pigmentosa_AD |
| PRPF31 |
7 |
Ala216Pro GCA>CCA |
|
3 |
Retinitis Pigmentosa_AD |
| PRPF31 |
11 |
Gly381 del1ttcG |
|
3 |
Retinitis Pigmentosa_AD |
| PRPF8 |
39 |
Ser2118Phe TCT>TTT |
|
3 |
Retinitis Pigmentosa_AD |
| PRPF8 |
43 |
Arg2310Gly AGG>GGG |
c.6928A>G |
2 |
Retinitis Pigmentosa_AD |
| PRPF8 |
43 |
Arg2330 del1cG |
|
3 |
Retinitis Pigmentosa_AD |
| RDH12 |
6 |
Arg259 del1cG |
c.776delG |
2 |
Retinitis Pigmentosa_AD |
| RDS |
1 |
Tyr141Cys TAC>TGC |
c.422A>G |
3 |
Retinitis Pigmentosa_AD |
| RDS |
1 |
Arg172Trp CGG>TGG |
c.514C>T |
3 |
Retinitis Pigmentosa_AD |
| RDS |
2 |
Pro210Arg CCT>CGT |
c.629C>G |
2 |
Retinitis Pigmentosa_AD |
| RDS |
2 |
IVS2+3 A>T |
c.828A>T |
3 |
Retinitis Pigmentosa_AD |
| RHO |
1 |
Leu57Arg CTC>CGC |
c.170T>G |
3 |
Retinitis Pigmentosa_AD |
| RHO |
1 |
Thr58Arg ACG>AGG |
c.173C>G |
3 |
Retinitis Pigmentosa_AD |
| RHO |
1 |
Gly106Arg GGG>AGG |
c.316G>A |
3 |
Retinitis Pigmentosa_AD |
| RHO |
1 |
Thr17Met ACG>ATG |
c.50C>T |
3 |
Retinitis Pigmentosa_AD |
| RHO |
1 |
Pro23His CCC>CAC |
c.68C>A |
3 |
Retinitis Pigmentosa_AD |
| RHO |
1 |
Val20Gly GTA>GGA |
|
3 |
Retinitis Pigmentosa_AD |
| RHO |
2 |
Leu125Arg CTG>CGG |
c.374T>G |
2 |
Retinitis Pigmentosa_AD |
| RHO |
2 |
Ser127Phe TCC>TTC |
c.380C>T |
2 |
Retinitis Pigmentosa_AD |
| RHO |
2 |
Leu131Pro CTG>CCG |
c.392T>C |
2 |
Retinitis Pigmentosa_AD |
| RHO |
2 |
Arg135Trp CGG>TGG |
c.403C>T |
3 |
Retinitis Pigmentosa_AD |
| RHO |
2 |
Cys140Ser TGT>TCT |
c.419G>C |
2 |
Retinitis Pigmentosa_AD |
| RHO |
2 |
Ala164Glu GCG>GAG |
c.491C>A |
2 |
Retinitis Pigmentosa_AD |
| RHO |
2 |
Ala164Val GCG>GTG |
c.491C>T |
2 |
Retinitis Pigmentosa_AD |
| RHO |
2 |
Pro171Ser CCA>TCA |
c.511C>T |
2 |
Retinitis Pigmentosa_AD |
| RHO |
2 |
Pro171Gln CCA>CAA |
c.512C>A |
2 |
Retinitis Pigmentosa_AD |
| RHO |
2 |
Pro171Leu CCA>CTA |
c.512C>T |
2 |
Retinitis Pigmentosa_AD |
| RHO |
2 |
Arg135Leu CGG>CTT |
|
3 |
Retinitis Pigmentosa_AD |
| RP1 |
4 |
Arg677Stop CGA>TGA |
c.2029C>T |
3 |
Retinitis Pigmentosa_AD |
| RP1 |
4 |
Asn760 del5aaTAAAT |
c.2280_2284delTAAAT |
3 |
Retinitis Pigmentosa_AD |
| RP1 |
4 |
Leu762 del5aaTAAAT |
c.2286_2290delTAAAT |
3 |
Retinitis Pigmentosa_AD |
| RP1 |
4 |
Val1052 del1gT |
c.3155delT |
3 |
Retinitis Pigmentosa_AD |
| RP1 |
4 |
Arg677 del1tctC |
|
3 |
Retinitis Pigmentosa_AD |
| RP1 |
4 |
Glu1517 del1 |
|
3 |
Retinitis Pigmentosa_AD |
| RP1 |
4 |
Glu1750 del1 |
|
3 |
Retinitis Pigmentosa_AD |
| RP1 |
4 |
Glu700Stop GAG>TAG |
|
3 |
Retinitis Pigmentosa_AD |
| RP1 |
4 |
Ser486ins4 |
|
3 |
Retinitis Pigmentosa_AD |
| RP1 |
4 |
Thr704 del1acA |
|
3 |
Retinitis Pigmentosa_AD |
| RP9 |
5 |
His137Leu CAT>CTT |
c.410A>T |
2 |
Retinitis Pigmentosa_AD |
| RPE65 |
13 |
Asp477Gly GAT>GGT |
c.1430A>G |
3 |
Retinitis Pigmentosa_AD |
| SNRNP200 |
25 |
Ser1087Leu TCG>TTG |
c.3260C>T |
2 |
Retinitis Pigmentosa_AD |
| SNRNP200 |
25 |
Arg1090Leu CGG>CTG |
c.3269 G>T |
3 |
Retinitis Pigmentosa_AD |
| BBS1 |
12 |
Met390Arg ATG>AGG |
c.1169T>G |
3 |
Retinitis Pigmentosa_AR |
| CC2D2A |
19 |
IVS19+1 G>C |
|
3 |
Retinitis Pigmentosa_AR |
| CERKL |
6 |
Arg283Stop CGA>TGA |
c.847C>T |
3 |
Retinitis Pigmentosa_AR |
| CNGB1 |
30 |
Gly993Val GGG>GTG |
c.2978G>T |
3 |
Retinitis Pigmentosa_AR |
| CNGB1 |
32 |
IVS32+1 G>A |
|
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
2 |
Cys85 ins2actTG |
c.252_253insTG |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
2 |
Cys195Phe TGC>TTC |
c.584G>T |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
4 |
Thr289Met ACG>ATG |
c.866C>T |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
5 |
Gln362Stop CAA>TAA |
c.1084C>T |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
5 |
Cys383Tyr TGT>TAT |
c.1148G>A |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
6 |
Cys480Arg TGT>CGT |
c.1438T>C |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
6 |
Cys681Tyr TGT>TAT |
c.2042G>A |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
6 |
Glu710Gln G(AG)>C(AG) |
c.2128G>C |
2 |
Retinitis Pigmentosa_AR |
| CRB1 |
7 |
Thr745Met ACG>ATG |
c.2234C>T |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
7 |
Leu751Stop TTA>TAA |
c.2252T>A |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
7 |
Arg764Cys CGT>TGT |
c.2290C>T |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
7 |
Lys801Stop AAG>TAG |
c.2401A>T |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
7 |
Ile852Thr ATC>ACC |
c.2555T>C |
2 |
Retinitis Pigmentosa_AR |
| CRB1 |
8 |
Cys896Stop TGT>TGA |
c.2688T>A |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
9 |
Cys948Tyr (T)GT>(T)AT |
c.2843G>A |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
9 |
Leu1071Pro CTC>CCC |
c.3212T>C |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
9 |
Ile1100Thr ATA>ACA |
c.3299T>C |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
9 |
Gly1103Arg GGA>AGA |
c.3307G>A |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
9 |
Cys1218Phe TGC>TTC |
c.3653G>T |
3 |
Retinitis Pigmentosa_AR |
| CRB1 |
11 |
Cys1332Stop TGC>TGA |
c.3996C>A |
3 |
Retinitis Pigmentosa_AR |
| DHDDS |
3 |
Lys42Glu AAG>GAG |
c.124A>G |
3 |
Retinitis Pigmentosa_AR |
| EYS |
31 |
Cys2139Tyr TGT>TAT |
c.6416G>A |
3 |
Retinitis Pigmentosa_AR |
| EYS |
43 |
Thr2810Ile ACT>ATT |
c.8429C>T |
1 |
Retinitis Pigmentosa_AR |
| EYS |
43 |
Tyr3135Stop TAT>TAA |
c.9405T>A |
3 |
Retinitis Pigmentosa_AR |
| FAM161A |
3 |
Arg523Stop CGA>TGA |
c.1567C>T |
3 |
Retinitis Pigmentosa_AR |
| FAM161A |
5 |
Arg596Stop CGA>TGA |
c.1786C>T |
3 |
Retinitis Pigmentosa_AR |
| FLVCR1 |
1 |
Asn121Asp AAC>GAC |
c.361A>G |
2 |
Retinitis Pigmentosa_AR |
| FLVCR1 |
1 |
Ala241Thr GCC>ACC |
c.721G>A |
3 |
Retinitis Pigmentosa_AR |
| FLVCR1 |
1 |
Cys192Arg TGC>CGC |
|
3 |
Retinitis Pigmentosa_AR |
| FLVCR1 |
8 |
Gly493Arg GGG>CGG |
|
3 |
Retinitis Pigmentosa_AR |
| IDH3B |
5 |
Leu132Pro CTG>CCG |
|
3 |
Retinitis Pigmentosa_AR |
| IDH3B |
7 |
Ile197 del1cggA |
|
3 |
Retinitis Pigmentosa_AR |
| IMPG2 |
3 |
Phe124Leu TTT>CTT |
c.370T>C |
2 |
Retinitis Pigmentosa_AR |
| IMPG2 |
7 |
Ser212Stop TCA>TGA |
c.635C>G |
3 |
Retinitis Pigmentosa_AR |
| IMPG2 |
13 |
Tyr560Stop TAT>TAA |
c.1680T>A |
3 |
Retinitis Pigmentosa_AR |
| IMPG2 |
13 |
Arg906Stop CGA>TGA |
c.2716C>T |
3 |
Retinitis Pigmentosa_AR |
| IMPG2 |
14 |
Arg964Stop CGA>TGA |
c.2890C>T |
3 |
Retinitis Pigmentosa_AR |
| IMPG2 |
16 |
Arg1088Stop CGA>TGA |
c.3262C>T |
3 |
Retinitis Pigmentosa_AR |
| IQCB1 |
6 |
Phe141 del2cacTT |
c.421_422delTT |
3 |
Retinitis Pigmentosa_AR |
| LRAT |
2 |
Met73 del2cacAT |
c.217_218delAT |
3 |
Retinitis Pigmentosa_AR |
| LRAT |
2 |
Ser175Arg AGT>AGA |
c.525T>A |
3 |
Retinitis Pigmentosa_AR |
| MERTK |
14 |
Arg651Stop CGA>TGA |
c.1951C>T |
3 |
Retinitis Pigmentosa_AR |
| NR2E3 |
2 |
Arg76Trp CGG>TGG |
c.226C>T |
3 |
Retinitis Pigmentosa_AR |
| NR2E3 |
2 |
Arg76Gln CGG>CAG |
c.227G>A |
2 |
Retinitis Pigmentosa_AR |
| NR2E3 |
2 |
Arg77Trp CGG>TGG |
c.229C>T |
3 |
Retinitis Pigmentosa_AR |
| NR2E3 |
6 |
Leu263Pro CTC>CCC |
c.788T>C |
3 |
Retinitis Pigmentosa_AR |
| NR2E3 |
6 |
Arg311Trp CGG>TGG |
c.931C>T |
3 |
Retinitis Pigmentosa_AR |
| NR2E3 |
6 |
Arg311Gln CGG>CAG |
c.932G>A |
3 |
Retinitis Pigmentosa_AR |
| NRL |
3 |
Leu160Pro CTG>CCG |
c.479T>C |
3 |
Retinitis Pigmentosa_AR |
| PDE6A |
6 |
IVS6+1 G>A |
c.998+1G>A |
3 |
Retinitis Pigmentosa_AR |
| PDE6A |
14 |
Tyr583Stop TAC>TAG |
|
3 |
Retinitis Pigmentosa_AR |
| PDE6B |
5 |
Gln298Stop CAG>TAG |
c.892C>T |
3 |
Retinitis Pigmentosa_AR |
| PDE6B |
14 |
Asp600Asn GAC>AAC |
c.1798G>A |
2 |
Retinitis Pigmentosa_AR |
| PDE6G |
3 |
IVS3+1 G>T |
|
2 |
Retinitis Pigmentosa_AR |
| PROM1 |
15 |
Gln576Stop |
|
3 |
Retinitis Pigmentosa_AR |
| PROM1 |
16 |
Gly614 del1 |
|
3 |
Retinitis Pigmentosa_AR |
| RBP3 |
2 |
Asp1080Asn GAC>AAC |
|
2 |
Retinitis Pigmentosa_AR |
| RDH12 |
2 |
Ala47Thr GCC>ACC |
c.139G>A |
2 |
Retinitis Pigmentosa_AR |
| RDH12 |
2 |
Thr49Met ACG>ATG |
c.146C>T |
3 |
Retinitis Pigmentosa_AR |
| RDH12 |
2 |
Thr55Met ACG>ATG |
c.164C>T |
3 |
Retinitis Pigmentosa_AR |
| RDH12 |
4 |
Ala126Val GCG>GTG |
c.377C>T |
2 |
Retinitis Pigmentosa_AR |
| RDH12 |
5 |
Ala206Asp GCC>GAC |
c.617C>A |
3 |
Retinitis Pigmentosa_AR |
| RDH12 |
6 |
Tyr226Cys TAC>TGC |
c.677A>G |
3 |
Retinitis Pigmentosa_AR |
| RDH12 |
6 |
Arg239Trp CGG>TGG |
c.715C>T |
3 |
Retinitis Pigmentosa_AR |
| RGR |
2 |
Ser66Arg AGC>CGC |
c.196A>C |
3 |
Retinitis Pigmentosa_AR |
| RHBDD2 |
2 |
Arg85His CGC>CAC |
|
2 |
Retinitis Pigmentosa_AR |
| RHO |
4 |
Glu249Stop GAG>TAG |
c.745G>T |
2 |
Retinitis Pigmentosa_AR |
| RLBP1 |
3 |
IVS3+2 T>C |
c.12+2T>C |
3 |
Retinitis Pigmentosa_AR |
| RLBP1 |
3 |
Gly4Gly GGG>GGA |
c.12G>A |
3 |
Retinitis Pigmentosa_AR |
| RLBP1 |
6 |
Arg151Gln CGG>CAG |
c.452G>A |
2 |
Retinitis Pigmentosa_AR |
| RLBP1 |
8 |
Arg234Trp CGG>TGG |
c.700C>T |
3 |
Retinitis Pigmentosa_AR |
| RLBP1 |
9 |
Gln278 del1tacC |
|
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
1 |
IVS1+5 G>A |
c.11+5G>A |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
1 |
Met1Thr ATG>ACG |
c.2T>C |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
2 |
Leu22Pro CTG>CCG |
c.65T>C |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
2 |
Val30 ins1gT |
|
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
3 |
Gly40Ser GGC>AGC |
c.118G>A |
2 |
Retinitis Pigmentosa_AR |
| RPE65 |
3 |
Arg44Gln CGA>CAA |
c.131G>A |
2 |
Retinitis Pigmentosa_AR |
| RPE65 |
3 |
Tyr79His TAC>CAC |
c.235T>C |
2 |
Retinitis Pigmentosa_AR |
| RPE65 |
3 |
IVS2-2 A>T |
c.95-2A>T |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
4 |
Arg91Trp CGG>TGG |
c.271C>T |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
4 |
Arg91Gln CGG>CAG |
c.272G>A |
2 |
Retinitis Pigmentosa_AR |
| RPE65 |
4 |
Glu102Lys GAA>AAA |
c.304G>A |
2 |
Retinitis Pigmentosa_AR |
| RPE65 |
4 |
Glu102Stop GAA>TAA |
c.304G>T |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
4 |
Lys96 ins1gagA |
|
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
5 |
Arg124Stop CGA>TGA |
c.370C>T |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
5 |
Tyr144Asp TAC>GAC |
c.430T>G |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
5 |
Ala145Thr GCT>ACT |
c.433G>A |
2 |
Retinitis Pigmentosa_AR |
| RPE65 |
5 |
Thr162Pro ACA>CCA |
c.484A>C |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
5 |
Gln165 ins1caG |
c.494_495insG |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
6 |
Asp167Tyr GAT>TAT |
c.499G>T |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
6 |
Asn205 del2aAC |
|
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
7 |
Arg234Stop CGA>TGA |
c.700C>T |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
7 |
Tyr239Asp TAC>GAC |
c.715T>G |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
9 |
His313Arg CAT>CGT |
c.938A>G |
2 |
Retinitis Pigmentosa_AR |
| RPE65 |
9 |
Tyr318Asn TAT>AAT |
c.952T>A |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
10 |
Leu341Ser TTA>TCA |
c.1022T>C |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
10 |
Lys354 ins1gtgA |
c.1059_1060insA |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
10 |
Pro363Thr CCT>ACT |
c.1087C>A |
2 |
Retinitis Pigmentosa_AR |
| RPE65 |
10 |
Tyr368His TAT>CAT |
c.1102T>C |
2 |
Retinitis Pigmentosa_AR |
| RPE65 |
10 |
Tyr368Cys TAT>TGT |
c.1103A>G |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
12 |
Glu417Gln GAG>CAG |
c.1249G>C |
2 |
Retinitis Pigmentosa_AR |
| RPE65 |
12 |
Tyr431Cys TAC>TGC |
c.1292A>G |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
13 |
Val452Gly GTC>GGC |
c.1355T>G |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
13 |
Val473Asp GTT>GAT |
c.1418T>A |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
14 |
Arg515Trp CGG>TGG |
c.1543C>T |
3 |
Retinitis Pigmentosa_AR |
| RPE65 |
14 |
Phe530 del1ttC |
c.1590delC |
3 |
Retinitis Pigmentosa_AR |
| SAG |
11 |
Thr308 del1acA |
c.924delA |
3 |
Retinitis Pigmentosa_AR |
| SPATA7 |
5 |
Arg85Stop CGA>TGA |
c.253C>T |
3 |
Retinitis Pigmentosa_AR |
| TTPA |
2 |
His101Gln CAT>CAG |
c.303T>C |
2 |
Retinitis Pigmentosa_AR |
| TULP1 |
7 |
IVS7+2 T>C |
c.718+2T>C |
3 |
Retinitis Pigmentosa_AR |
| TULP1 |
10 |
Gln301Stop CAG>TAG |
c.901C>T |
3 |
Retinitis Pigmentosa_AR |
| TULP1 |
14 |
IVS14+1 G>A |
c.1495+1G>A |
3 |
Retinitis Pigmentosa_AR |
| TULP1 |
15 |
Phe528 ins6gccTTCGCC |
c.1581_1582insTTCGCC |
3 |
Retinitis Pigmentosa_AR |
| USH2A |
4 |
Val218Glu GTG>GAG |
c.653T>A |
3 |
Retinitis Pigmentosa_AR |
| USH2A |
7 |
Cys419Phe TGT>TTT |
c.1256G>T |
3 |
Retinitis Pigmentosa_AR |
| USH2A |
11 |
Ser633Stop TCG>TAG |
c.1898C>A |
3 |
Retinitis Pigmentosa_AR |
| USH2A |
13 |
Glu767 del1tgtG |
c.2299delG |
3 |
Retinitis Pigmentosa_AR |
| USH2A |
20 |
Thr1445 del2aCT |
c.4334_4335delCT |
3 |
Retinitis Pigmentosa_AR |
| USH2A |
22 |
Arg1549Stop CGA>TGA |
c.4645C>T |
3 |
Retinitis Pigmentosa_AR |
| USH2A |
45 |
Trp2994Stop TGG>TAG |
c.8981G>A |
3 |
Retinitis Pigmentosa_AR |
| USH2A |
49 |
Gln3231Stop CAA>TAA |
c.9691C>T |
3 |
Retinitis Pigmentosa_AR |
| USH2A |
51 |
Cys3358Tyr TGC>TAC |
c.10073G>A |
3 |
Retinitis Pigmentosa_AR |
| USH2A |
61 |
Arg3905Cys CGC>TGC |
c.11713C>T |
3 |
Retinitis Pigmentosa_AR |
| USH2A |
63 |
Arg4192His CGC>CAC |
c.12575G>A |
3 |
Retinitis Pigmentosa_AR |
| USH2A |
IVS40 |
IVS40-2144 A>G |
c.7595-2144A>G |
3 |
Retinitis Pigmentosa_AR |
| USH3A |
1 |
Asn48Lys AAT>AAG |
c.144T>G |
2 |
Retinitis Pigmentosa_AR |
| USH3A |
1 |
Pro31Leu CCG>CTG |
c.92C>T |
3 |
Retinitis Pigmentosa_AR |
| USH3A |
3 |
Leu154Trp TTG>TGG |
c.461T>G |
3 |
Retinitis Pigmentosa_AR |
| ZNF513 |
4 |
Cys339Arg TGC>CGC |
c.1015T>C |
3 |
Retinitis Pigmentosa_AR |
| ABCA4 |
1 |
Arg18Trp CGG>TGG |
c.52C>T |
3 |
Stargardt Disease |
| ABCA4 |
2 |
Trp41Stop TGG>TAG |
c.122G>A |
3 |
Stargardt Disease |
| ABCA4 |
2 |
Arg24His CGC>CAC |
c.71G>A |
? |
Stargardt Disease |
| ABCA4 |
3 |
Cys54Tyr (T)GC>(T)AC |
c.161G>A |
3 |
Stargardt Disease |
| ABCA4 |
3 |
Ala60Val GCG>GTG |
c.179C>T |
2 |
Stargardt Disease |
| ABCA4 |
3 |
Ala64Val GCG>GTG |
c.191C>T |
2 |
Stargardt Disease |
| ABCA4 |
3 |
Gly65Glu GGA>GAA |
c.194G>A |
3 |
Stargardt Disease |
| ABCA4 |
3 |
Asn96His ACC>CAC |
c.286A>C |
2 |
Stargardt Disease |
| ABCA4 |
3 |
Asn98Lys AAC>AAG |
c.294C>G |
2 |
Stargardt Disease |
| ABCA4 |
6 |
Ala199Val GCG>GTG |
c.596C>T |
2 |
Stargardt Disease |
| ABCA4 |
6 |
Arg219Stop AGA>TGA |
c.655A>T |
3 |
Stargardt Disease |
| ABCA4 |
6 |
Arg220Cys CGC>TGC |
c.658C>T |
3 |
Stargardt Disease |
| ABCA4 |
6 |
Leu232Phe CTC>TTC |
c.694C>T |
2 |
Stargardt Disease |
| ABCA4 |
6 |
Tyr245Stop TAT>TAG |
c.735T>G |
3 |
Stargardt Disease |
| ABCA4 |
6 |
Val256Val GTG>GTT |
c.768G>T |
2 |
Stargardt Disease |
| ABCA4 |
9 |
Arg408Stop CGA>TGA |
c.1222C>T |
3 |
Stargardt Disease |
| ABCA4 |
10 |
Ser445Arg AGC>AGG |
c.1335C>G |
3 |
Stargardt Disease |
| ABCA4 |
11 |
Glu471Lys GAA>AAA |
c.1411G>A |
3 |
Stargardt Disease |
| ABCA4 |
11 |
Arg508Cys CGC>TGC |
c.1522C>T |
3 |
Stargardt Disease |
| ABCA4 |
12 |
Leu541Pro CTA>CCA |
c.1622T>C |
3 |
Stargardt Disease |
| ABCA4 |
12 |
Gly550Arg GGA>AGA |
c.1648G>A |
3 |
Stargardt Disease |
| ABCA4 |
12 |
Arg572Gln CGA>CAA |
c.1715G>A |
2 |
Stargardt Disease |
| ABCA4 |
13 |
Asp600Tyr GAT>TAT |
c.1798G>T |
3 |
Stargardt Disease |
| ABCA4 |
13 |
Arg602Trp CGG>TGG |
c.1804C>T |
3 |
Stargardt Disease |
| ABCA4 |
13 |
Gly607Arg GGG>AGG |
c.1819G>A |
3 |
Stargardt Disease |
| ABCA4 |
13 |
Phe608Ile TTT>ATT |
c.1822T>A |
2 |
Stargardt Disease |
| ABCA4 |
13 |
Gln635Stop CAG>TAG |
c.1903C>T |
3 |
Stargardt Disease |
| ABCA4 |
13 |
Pro640Leu CCC>CTC |
c.1919C>T |
3 |
Stargardt Disease |
| ABCA4 |
13 |
Val643Met GTG>ATG |
c.1927G>A |
2 |
Stargardt Disease |
| ABCA4 |
13 |
Asp645Asn GAT>AAT |
c.1933G>A |
2 |
Stargardt Disease |
| ABCA4 |
14 |
Arg653Cys CGC>TGC |
c.1957C>T |
3 |
Stargardt Disease |
| ABCA4 |
14 |
Arg681Stop CGA>TGA |
c.2041C>T |
3 |
Stargardt Disease |
| ABCA4 |
15 |
Val767Asp GTC>GAC |
c.2300T>A |
3 |
Stargardt Disease |
| ABCA4 |
16 |
Ala801Thr GCA>ACA |
c.2401G>A |
2 |
Stargardt Disease |
| ABCA4 |
16 |
Trp821Arg TGG>AGG |
c.2461T>A |
3 |
Stargardt Disease |
| ABCA4 |
16 |
Ala848Asp GCT>GAT |
c.2543C>A |
3 |
Stargardt Disease |
| ABCA4 |
16 |
Ala854Thr GCT>ACT |
c.2560G>A |
2 |
Stargardt Disease |
| ABCA4 |
16 |
Trp855Stop TGG>TAG |
c.2564G>A |
3 |
Stargardt Disease |
| ABCA4 |
17 |
Gly863Ala (G)GA>(G)CA |
c.2588G>C |
3 |
Stargardt Disease |
| ABCA4 |
19 |
Asn965Ser AAT>AGT |
c.2894A>G |
2 |
Stargardt Disease |
| ABCA4 |
19 |
Thr972Asn ACC>AAC |
c.2915C>A |
2 |
Stargardt Disease |
| ABCA4 |
20 |
Val989Ala GTT>GCT |
c.2966T>C |
2 |
Stargardt Disease |
| ABCA4 |
20 |
IVS20+5 G>A |
c.3050+5G>A |
3 |
Stargardt Disease |
| ABCA4 |
21 |
Thr1019Ala ACG>GCG |
c.3055A>G |
2 |
Stargardt Disease |
| ABCA4 |
21 |
Thr1019Met ACG>ATG |
c.3056C>T |
3 |
Stargardt Disease |
| ABCA4 |
21 |
Ala1038Val GCC>GTC |
c.3113C>T |
3 |
Stargardt Disease |
| ABCA4 |
22 |
Glu1087Lys GAA>AAA |
c.3259G>A |
3 |
Stargardt Disease |
| ABCA4 |
22 |
Glu1087Asp GAA>GAC |
c.3261A>C |
2 |
Stargardt Disease |
| ABCA4 |
22 |
Arg1097Stop AGA>TGA |
c.3289A>T |
3 |
Stargardt Disease |
| ABCA4 |
22 |
Arg1098Cys CGC>TGC |
c.3292C>T |
3 |
Stargardt Disease |
| ABCA4 |
22 |
Arg1108Cys CGC>TGC |
c.3322C>T |
3 |
Stargardt Disease |
| ABCA4 |
22 |
Arg1108His CGC>CAC |
c.3323G>A |
2 |
Stargardt Disease |
| ABCA4 |
23 |
Glu1122Lys GAG>AAG |
c.3364G>A |
2 |
Stargardt Disease |
| ABCA4 |
24 |
Leu1201Arg CTG>CGG |
c.3602T>G |
3 |
Stargardt Disease |
| ABCA4 |
26 |
Asp1279 del6gagGATTCT |
c.3835_3840delGATTCT |
3 |
Stargardt Disease |
| ABCA4 |
28 |
Pro1380Leu CCG>CTG |
c.4139C>T |
3 |
Stargardt Disease |
| ABCA4 |
28 |
Leu1388Pro CTG>CCG |
c.4163T>C |
3 |
Stargardt Disease |
| ABCA4 |
28 |
Trp1408Arg TGG>CGG |
c.4222T>C |
3 |
Stargardt Disease |
| ABCA4 |
28 |
Ile1409Val ATA>GTA |
c.4225A>G |
2 |
Stargardt Disease |
| ABCA4 |
28 |
Gln1412Stop CAG>TAG |
c.4234C>T |
3 |
Stargardt Disease |
| ABCA4 |
28 |
IVS28+5 G>T |
c.4253+5G>T |
2 |
Stargardt Disease |
| ABCA4 |
30 |
Cys1455Arg TGT>CGT |
c.4363T>C |
3 |
Stargardt Disease |
| ABCA4 |
30 |
Cys1488Arg TGC>CGC |
c.4462T>C |
3 |
Stargardt Disease |
| ABCA4 |
30 |
Cys1488Phe TGC>TTC |
c.4463G>T |
3 |
Stargardt Disease |
| ABCA4 |
30 |
Cys1490Tyr TGC>TAC |
c.4469G>A |
3 |
Stargardt Disease |
| ABCA4 |
30 |
IVS30+1 G>T |
c.4539+1G>T |
3 |
Stargardt Disease |
| ABCA4 |
35 |
Val1617Met GTG>ATG |
c.4849G>A |
2 |
Stargardt Disease |
| ABCA4 |
35 |
Arg1640Gln CGG>CAG |
c.4919G>A |
2 |
Stargardt Disease |
| ABCA4 |
35 |
IVS35+2 T>C |
c.5018+2T>C |
3 |
Stargardt Disease |
| ABCA4 |
36 |
Val1686Met GTG>ATG |
c.5056G>A |
2 |
Stargardt Disease |
| ABCA4 |
37 |
IVS37+1 G>A |
c.5312+1G>A |
3 |
Stargardt Disease |
| ABCA4 |
38 |
Trp1772Stop TGG>TGA |
c.5316G>A |
3 |
Stargardt Disease |
| ABCA4 |
38 |
Asn1799Asp AAT>GAT |
c.5395A>G |
3 |
Stargardt Disease |
| ABCA4 |
39 |
IVS38-10 T>C |
c.5461-10T>C |
3 |
Stargardt Disease |
| ABCA4 |
39 |
His1838Asp CAC>GAC |
c.5512C>G |
3 |
Stargardt Disease |
| ABCA4 |
40 |
Arg1898His CGC>CAC |
c.5693G>A |
2 |
Stargardt Disease |
| ABCA4 |
42 |
Gly1961Glu GGA>GAA |
c.5882G>A |
3 |
Stargardt Disease |
| ABCA4 |
42 |
Gly1961Glu GGA>GAA |
c.5882G>A |
3 |
Stargardt Disease |
| ABCA4 |
42 |
IVS42+1 G>A |
c.5898+1G>A |
3 |
Stargardt Disease |
| ABCA4 |
43 |
Val1973 del1ggaG |
c.5917delG |
3 |
Stargardt Disease |
| ABCA4 |
44 |
Leu2027Phe CTC>TTC |
c.6079C>T |
3 |
Stargardt Disease |
| ABCA4 |
44 |
Arg2030Stop CGA>TGA |
c.6088C>T |
3 |
Stargardt Disease |
| ABCA4 |
44 |
Arg2030Gln CGA>CAA |
c.6089G>A |
2 |
Stargardt Disease |
| ABCA4 |
44 |
Arg2038Trp CGG>TGG |
c.6112C>T |
3 |
Stargardt Disease |
| ABCA4 |
44 |
Arg2040Gln CGA>CAA |
c.6119G>A |
2 |
Stargardt Disease |
| ABCA4 |
46 |
Arg2107His CGC>CAC |
c.6320G>A |
3 |
Stargardt Disease |
| ABCA4 |
46 |
Leu2109Pro CTG>CCG |
c.6326T>C |
2 |
Stargardt Disease |
| ABCA4 |
47 |
Cys2150Tyr TGT>TAT |
c.6449G>A |
3 |
Stargardt Disease |
| ABCA4 |
48 |
Gln2220Stop CAG>TAG |
c.6658C>T |
3 |
Stargardt Disease |
| ELOVL4 |
6 |
Leu263 del5tttCTTAA |
c.787_791delCTTAA |
3 |
Stargardt Disease |
| CDH23 |
5 |
IVS5+1 G>A |
c.336+1G>A |
3 |
Usher Syndrome |
| CDH23 |
11 |
Ala373Thr GCC>ACC |
c.1117G>A |
0 |
Usher Syndrome |
| CDH23 |
11 |
Ile378 del1aT |
c.1133delT |
3 |
Usher Syndrome |
| CDH23 |
20 |
IVS20+1 G>A |
c.2304+1G>A |
3 |
Usher Syndrome |
| CDH23 |
36 |
Arg1507Stop CGA>TGA |
c.4519C>T |
3 |
Usher Syndrome |
| CDH23 |
40 |
Arg1751Gln CGG>CAG |
c.5252G>A |
2 |
Usher Syndrome |
| CDH23 |
45 |
IVS45+1 G>A |
c.6064+1G>A |
3 |
Usher Syndrome |
| CDH23 |
46 |
IVS45-9 G>A |
c.6050-9G>A |
3 |
Usher Syndrome |
| CDH23 |
67 |
Arg3180His CGT>CAT |
c.9539G>A |
2 |
Usher Syndrome |
| MYO7A |
3 |
Cys31Stop TGC>TGA |
c.93C>A |
3 |
Usher Syndrome |
| MYO7A |
5 |
His133Asn CAC>AAC |
c.397C>A |
2 |
Usher Syndrome |
| MYO7A |
5 |
Ile134Asn ATC>AAC |
c.401T>A |
3 |
Usher Syndrome |
| MYO7A |
5 |
Arg150Stop CGA>TGA |
c.448C>T |
3 |
Usher Syndrome |
| MYO7A |
5 |
Arg150Gln CGA>CAA |
c.449G>A |
2 |
Usher Syndrome |
| MYO7A |
5 |
Cys154Stop TGC>TGA |
c.462C>A |
3 |
Usher Syndrome |
| MYO7A |
5 |
IVS5+1 G>A |
c.470+1G>A |
3 |
Usher Syndrome |
| MYO7A |
6 |
Thr165Met ACG>ATG |
c.494C>T |
3 |
Usher Syndrome |
| MYO7A |
6 |
IVS6+1 G>T |
c.592+1G>T |
3 |
Usher Syndrome |
| MYO7A |
7 |
Arg212Ser CGT>AGT |
c.634C>A |
3 |
Usher Syndrome |
| MYO7A |
7 |
Arg212Cys CGT>TGT |
c.634C>T |
3 |
Usher Syndrome |
| MYO7A |
7 |
Arg212His CGT>CAT |
c.635G>A |
2 |
Usher Syndrome |
| MYO7A |
9 |
Arg302His CGC>CAC |
c.905G>A |
2 |
Usher Syndrome |
| MYO7A |
9 |
Tyr333Stop TAT>TAG |
c.999T>G |
3 |
Usher Syndrome |
| MYO7A |
11 |
Leu366Pro CTG>CCG |
c.1097T>C |
3 |
Usher Syndrome |
| MYO7A |
11 |
Ala397Thr GCC>ACC |
c.1189G>A |
2 |
Usher Syndrome |
| MYO7A |
12 |
Tyr403Cys TAC>TGC |
c.1208A>G |
3 |
Usher Syndrome |
| MYO7A |
12 |
Lys420Stop AAG>TAG |
c.1258A>T |
3 |
Usher Syndrome |
| MYO7A |
12 |
Glu442Lys GAG>AAG |
c.1324G>A |
2 |
Usher Syndrome |
| MYO7A |
13 |
IVS12-2 A>G |
c.1344-2A>G |
3 |
Usher Syndrome |
| MYO7A |
13 |
Glu450Gln GAG>CAG |
c.1348G>C |
2 |
Usher Syndrome |
| MYO7A |
13 |
Arg467 ins3cgGCA |
c.1400_1401insGCA |
3 |
Usher Syndrome |
| MYO7A |
13 |
Glu476Stop GAA>TAA |
c.1426G>T |
3 |
Usher Syndrome |
| MYO7A |
13 |
Ser508Pro TCC>CCC |
c.1522T>C |
3 |
Usher Syndrome |
| MYO7A |
14 |
Gly519Asp GGC>GAC |
c.1556G>A |
3 |
Usher Syndrome |
| MYO7A |
17 |
Arg669Stop CGA>TGA |
c.2005C>T |
3 |
Usher Syndrome |
| MYO7A |
28 |
Glu1170Lys GAG>AAG |
c.3508G>A |
2 |
Usher Syndrome |
| MYO7A |
29 |
Arg1240Trp CGG>TGG |
c.3718C>T |
3 |
Usher Syndrome |
| MYO7A |
29 |
Arg1240Gln CGG>CAG |
c.3719G>A |
3 |
Usher Syndrome |
| MYO7A |
30 |
Ala1288Pro GCC>CCC |
c.3862G>C |
3 |
Usher Syndrome |
| MYO7A |
33 |
Val1501 del2tttGT |
c. |
3 |
Usher Syndrome |
| MYO7A |
34 |
Phe1500 del2ttTG |
c.4500_4501delTG |
3 |
Usher Syndrome |
| MYO7A |
35 |
Ile1590 ins1aT |
c.4768_4769insT |
3 |
Usher Syndrome |
| MYO7A |
37 |
Arg1701Stop CGA>TGA |
c.5101C>T |
3 |
Usher Syndrome |
| MYO7A |
37 |
Glu1716Stop GAG>TAG |
c.5146G>T |
3 |
Usher Syndrome |
| MYO7A |
38 |
Ser1736 ins1tC |
c.5206_5207insC |
3 |
Usher Syndrome |
| MYO7A |
39 |
Gln1798Stop CAG>TAG |
c.5392C>T |
3 |
Usher Syndrome |
| MYO7A |
40 |
Leu1858Pro CTG>CCG |
c.5573T>C |
3 |
Usher Syndrome |
| MYO7A |
40 |
Arg1861Stop CGA>TGA |
c.5581C>T |
3 |
Usher Syndrome |
| MYO7A |
43 |
Asp1960 del3gaCTT |
c.5880_5882delCTT |
3 |
Usher Syndrome |
| MYO7A |
44 |
IVS43-1 G>A |
c.5945-1G>A |
3 |
Usher Syndrome |
| MYO7A |
44 |
Met2008 del1atG |
c.6024delG |
3 |
Usher Syndrome |
| MYO7A |
45 |
Arg2024Stop CGA>TGA |
c.6070C>T |
3 |
Usher Syndrome |
| PCDH15 |
8 |
Arg245Stop CGA>TGA |
c.733C>T |
3 |
Usher Syndrome |
| USH1C |
3 |
Val72Val GTG>GTA |
c.216G>A |
3 |
Usher Syndrome |
| USH2A |
2 |
Arg34Stop CGA>TGA |
c.100C>T |
3 |
Usher Syndrome |
| USH2A |
2 |
Cys79 ins4tGTAC |
c.235_236insGTAC |
3 |
Usher Syndrome |
| USH2A |
2 |
Cys88Trp TGC>TGG |
c.264C>G |
3 |
Usher Syndrome |
| USH2A |
3 |
Lys182 del2 gagAA |
c.544_545delAA |
3 |
Usher Syndrome |
| USH2A |
4 |
Val218Glu GTG>GAG |
c.653T>A |
3 |
Usher Syndrome |
| USH2A |
4 |
Gln258 del2cAG |
c.773_774delAG |
3 |
Usher Syndrome |
| USH2A |
4 |
Leu260Stop TTA>TGA |
c.779T>G |
3 |
Usher Syndrome |
| USH2A |
5 |
Gly268Arg GGA>AGA |
c.802G>A |
3 |
Usher Syndrome |
| USH2A |
5 |
Arg274Stop CGA>TGA |
c.820C>T |
3 |
Usher Syndrome |
| USH2A |
6 |
Arg334Trp CGG>TGG |
c.1000C>T |
3 |
Usher Syndrome |
| USH2A |
6 |
Asn346His AAT>CAT |
c.1036A>C |
3 |
Usher Syndrome |
| USH2A |
6 |
Thr352Ile ACT>ATT |
c.1055C>T |
3 |
Usher Syndrome |
| USH2A |
6 |
IVS5-2 del2cAG |
c.849-2_849-1delAG |
3 |
Usher Syndrome |
| USH2A |
6 |
Arg303His CGT>CAT |
c.908G>A |
2 |
Usher Syndrome |
| USH2A |
6 |
Gly306 ins4ggCAGC |
c.917_918insCAGC |
3 |
Usher Syndrome |
| USH2A |
6 |
Arg317Arg CGG>AGG |
c.949C>A |
2 |
Usher Syndrome |
| USH2A |
6 |
Cys319Tyr TGC>TAC |
c.956G>A |
3 |
Usher Syndrome |
| USH2A |
7 |
Glu404 del1gA |
c.1211delA |
3 |
Usher Syndrome |
| USH2A |
7 |
Trp409Stop TGG>TGA |
c.1227G>A |
3 |
Usher Syndrome |
| USH2A |
7 |
Cys419Phe TGT>TTT |
c.1256G>T |
3 |
Usher Syndrome |
| USH2A |
8 |
Arg517Thr AG(A)>AC(A) |
c.1550G>C |
3 |
Usher Syndrome |
| USH2A |
9 |
Cys536Arg TGC>CGC |
c.1606T>C |
3 |
Usher Syndrome |
| USH2A |
10 |
Pro560 del1aagC |
c.1678delC |
3 |
Usher Syndrome |
| USH2A |
10 |
Cys575Tyr TGT>TAT |
c.1724G>A |
3 |
Usher Syndrome |
| USH2A |
11 |
IVS10-2 A>G |
c.1841-2A>G |
3 |
Usher Syndrome |
| USH2A |
11 |
Cys620Arg TGC>CGC |
c.1858T>C |
3 |
Usher Syndrome |
| USH2A |
11 |
Cys620Phe TGC>TTC |
c.1859G>T |
3 |
Usher Syndrome |
| USH2A |
11 |
Arg626Stop CGA>TGA |
c.1876C>T |
3 |
Usher Syndrome |
| USH2A |
11 |
Ser633Stop TCG>TAG |
c.1898C>A |
3 |
Usher Syndrome |
| USH2A |
12 |
Gln675Stop CAG>TAG |
c.2023C>T |
3 |
Usher Syndrome |
| USH2A |
12 |
Gly700 del1tctG |
c.2098delG |
3 |
Usher Syndrome |
| USH2A |
13 |
IVS12-1 G>C |
c.2168-1G>C |
3 |
Usher Syndrome |
| USH2A |
13 |
Glu767 del1tgtG |
c.2299delG |
3 |
Usher Syndrome |
| USH2A |
13 |
Cys768Stop TGC>TGA |
c.2304C>A |
3 |
Usher Syndrome |
| USH2A |
13 |
Cys870Stop TGC>TGA |
c.2610C>A |
3 |
Usher Syndrome |
| USH2A |
14 |
Leu966 del1ctG |
c.2898delG |
3 |
Usher Syndrome |
| USH2A |
17 |
Tyr1123Cys TAT>TGT |
c.3368A>G |
3 |
Usher Syndrome |
| USH2A |
17 |
Cys1186 del1tgT |
c.3558delT |
3 |
Usher Syndrome |
| USH2A |
17 |
Val1196 del1gT |
c.3587delT |
3 |
Usher Syndrome |
| USH2A |
18 |
Arg1281Stop AGA>TGA |
c.3841A>T |
3 |
Usher Syndrome |
| USH2A |
20 |
Thr1445 del2aCT |
c.4334_4335delCT |
3 |
Usher Syndrome |
| USH2A |
21 |
Glu1503 ins1gA |
c.4507_4508insA |
3 |
Usher Syndrome |
| USH2A |
22 |
Arg1549Stop CGA>TGA |
c.4645C>T |
3 |
Usher Syndrome |
| USH2A |
27 |
Arg1777Trp CGG>TGG |
c.5329C>T |
3 |
Usher Syndrome |
| USH2A |
29 |
Arg1946Stop CGA>TGA |
c.5836C>T |
3 |
Usher Syndrome |
| USH2A |
30 |
Ala1953Gly (G)CT>(G)GT |
c.5858C>G |
3 |
Usher Syndrome |
| USH2A |
31 |
Gln2053 del1cA |
c.6158delA |
3 |
Usher Syndrome |
| USH2A |
36 |
Glu2288Stop GAA>TAA |
c.6862G>T |
3 |
Usher Syndrome |
| USH2A |
40 |
Ser2498 del1aG |
c.7493delG |
3 |
Usher Syndrome |
| USH2A |
40 |
Phe2508 del1atgT |
c.7522delT |
3 |
Usher Syndrome |
| USH2A |
41 |
Tyr2696Stop TAT>TAA |
c.8088T>A |
3 |
Usher Syndrome |
| USH2A |
41 |
Arg2723Stop CGA>TGA |
c.8167C>T |
3 |
Usher Syndrome |
| USH2A |
42 |
Trp2841Stop TGG>TAG |
c.8522G>A |
3 |
Usher Syndrome |
| USH2A |
42 |
Arg2853Stop AG(A)>TG(A) |
c.8557A>T |
3 |
Usher Syndrome |
| USH2A |
44 |
IVS43-9 A>G |
c.8682-9A>G |
2 |
Usher Syndrome |
| USH2A |
45 |
Trp2994Stop TGG>TAG |
c.8981G>A |
3 |
Usher Syndrome |
| USH2A |
49 |
Gln3231Stop CAA>TAA |
c.9691C>T |
3 |
Usher Syndrome |
| USH2A |
50 |
Cys3267Arg TGC>CGC |
c.9799T>C |
3 |
Usher Syndrome |
| USH2A |
50 |
Pro3272Leu CCG>CTG |
c.9815C>T |
3 |
Usher Syndrome |
| USH2A |
50 |
Cys3281Phe TGC>TTC |
c.9842G>T |
3 |
Usher Syndrome |
| USH2A |
51 |
Cys3358Tyr TGC>TAC |
c.10073G>A |
3 |
Usher Syndrome |
| USH2A |
53 |
Lys3509Stop AAA>TAA |
c.10525A>T |
3 |
Usher Syndrome |
| USH2A |
53 |
Trp3521Arg TGG>CGG |
c.10561T>C |
3 |
Usher Syndrome |
| USH2A |
54 |
Thr3571Met ACG>ATG |
c.10712C>T |
3 |
Usher Syndrome |
| USH2A |
57 |
Glu3730 del1gA |
c.11189delA |
3 |
Usher Syndrome |
| USH2A |
61 |
Arg3905Cys CGC>TGC |
c.11713C>T |
3 |
Usher Syndrome |
| USH2A |
61 |
Trp3955Stop TGG>TAG |
c.11864G>A |
3 |
Usher Syndrome |
| USH2A |
61 |
Thr3958 del2ttaAC |
c.11872_11873delAC |
3 |
Usher Syndrome |
| USH2A |
62 |
Glu4051 ins2gaTT |
c.12152_12153insTT |
3 |
Usher Syndrome |
| USH2A |
62 |
Glu4078Stop GAG>TAG |
c.12232G>T |
3 |
Usher Syndrome |
| USH2A |
62 |
Gly4095Asp GGT>GAT |
c.12284G>A |
3 |
Usher Syndrome |
| USH2A |
63 |
IVS62-2 A>G |
c.12295-2A>G |
3 |
Usher Syndrome |
| USH2A |
63 |
Cys4140Ser TGT>TCT |
c.12419G>C |
3 |
Usher Syndrome |
| USH2A |
63 |
Trp4175Cys TGG>TGC |
c.12525G>C |
3 |
Usher Syndrome |
| USH2A |
63 |
Arg4192Cys CGC>TGC |
c.12574C>T |
3 |
Usher Syndrome |
| USH2A |
63 |
Arg4192His CGC>CAC |
c.12575G>A |
3 |
Usher Syndrome |
| USH2A |
63 |
Gln4402 del2caGG |
c.13206_13207delGG |
3 |
Usher Syndrome |
| USH2A |
63 |
Thr4439Ile ACA>ATA |
c.13316C>T |
3 |
Usher Syndrome |
| USH2A |
63 |
Glu4458 del1gA |
c.13373delA |
3 |
Usher Syndrome |
| USH2A |
63 |
Thr4425Met ACG>ATG |
c.13724C>T |
3 |
Usher Syndrome |
| USH2A |
63 |
Thr4425Met ACG>ATG |
c.13724C>T |
3 |
Usher Syndrome |
| USH2A |
64 |
Gln4711Stop CAG>TAG |
c.14131C>T |
3 |
Usher Syndrome |
| USH2A |
66 |
Leu4795Arg CTT>CGT |
c.14384T>G |
3 |
Usher Syndrome |
| USH2A |
66 |
Thr4809Ile ACC>ATC |
c.14426C>T |
3 |
Usher Syndrome |
| USH2A |
IVS40 |
IVS40-2144 A>G |
c.7595-2144A>G |
3 |
Usher Syndrome |
| USH3A |
1 |
Asn48Lys AAT>AAG |
c.144T>G |
2 |
Usher Syndrome |
| USH3A |
1 |
Pro31Leu CCG>CTG |
c.92C>T |
3 |
Usher Syndrome |
| USH3A |
3 |
Leu154Trp TTG>TGG |
c.461T>G |
3 |
Usher Syndrome |
| USH3A |
3 |
Tyr176Stop TAT>TAG |
c.528T>G |
3 |
Usher Syndrome |