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Carver Allele-Specific Variations

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Carver Allele-Specific Variations
Gene Exon Variation cDNA Location EPP Assay
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
Retrieved Sun, 2018-12-16 04:09
Last modified Thu, 04/17/2008 - 21:50
www.carverlab.org/database