ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1055
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HGVS dbSNP gnomAD frequency
NM_004744.5(LRAT):c.*2625A>G rs77071498 0.01933
NM_004744.5(LRAT):c.*2529C>T rs185391295 0.00852
NM_004744.5(LRAT):c.*3264G>A rs115053323 0.00575
NM_003322.6(TULP1):c.1341G>A (p.Leu447=) rs61734562 0.00456
NM_004744.5(LRAT):c.*2741_*2743dup rs528370871 0.00287
NM_004744.5(LRAT):c.*3T>G rs200942685 0.00202
NM_004744.5(LRAT):c.*3712G>C rs144961748 0.00172
NM_004744.5(LRAT):c.*3819T>C rs191600425 0.00153
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr) rs143582502 0.00134
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) rs151092557 0.00122
NM_001122769.3(LCA5):c.902G>A (p.Arg301His) rs139142572 0.00109
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00107
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_001122769.3(LCA5):c.1843A>G (p.Ser615Gly) rs143030450 0.00087
NM_000329.3(RPE65):c.1244-5C>T rs202185816 0.00074
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_000329.3(RPE65):c.496-4G>A rs138146176 0.00069
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219 0.00067
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) rs139819099 0.00061
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_152443.3(RDH12):c.85G>A (p.Gly29Arg) rs115455005 0.00054
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_000180.4(GUCY2D):c.3042G>A (p.Leu1014=) rs139019420 0.00050
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_014336.4(AIPL1):c.-52G>T rs377376064 0.00048
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) rs140648074 0.00044
NM_004744.5(LRAT):c.*640T>C rs574458445 0.00043
NM_152443.3(RDH12):c.301G>A (p.Asp101Asn) rs148334092 0.00037
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=) rs763570903 0.00029
NM_152443.3(RDH12):c.869T>G (p.Val290Gly) rs61740289 0.00029
NM_001164688.2(RD3):c.-293_-292dup rs1491560139 0.00028
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_012418.4(FSCN2):c.72del (p.Thr25fs) rs376633374 0.00024
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp) rs143681049 0.00023
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met) rs370395204 0.00022
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln) rs772603458 0.00022
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala) rs144029476 0.00022
NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn) rs139463596 0.00022
NM_201253.3(CRB1):c.4148G>A (p.Arg1383His) rs200573274 0.00022
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met) rs143585840 0.00021
NM_001122769.3(LCA5):c.1083A>G (p.Pro361=) rs367733392 0.00021
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00021
NM_201253.3(CRB1):c.430T>G (p.Phe144Val) rs62636262 0.00021
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00020
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) rs200211315 0.00019
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr) rs143650826 0.00019
NM_001103146.3(GIGYF2):c.532+5271_532+5273del rs774385692 0.00019
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys) rs374656545 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) rs200469148 0.00019
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys) rs369902368 0.00018
NM_152443.3(RDH12):c.317G>A (p.Arg106Gln) rs150812168 0.00017
NM_152443.3(RDH12):c.577C>T (p.Arg193Cys) rs148629905 0.00017
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser) rs140494140 0.00017
NM_004744.5(LRAT):c.-2+7A>C rs886059161 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_201253.3(CRB1):c.2538A>T (p.Gly846=) rs139040133 0.00015
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu) rs183387506 0.00014
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile) rs769317754 0.00014
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln) rs61750162 0.00013
NM_000180.4(GUCY2D):c.991C>A (p.Arg331Ser) rs34596269 0.00013
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu) rs142626873 0.00013
NM_014336.5(AIPL1):c.*153del rs886053264 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655 0.00012
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_152443.3(RDH12):c.300C>T (p.Ser100=) rs746513362 0.00012
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_000180.4(GUCY2D):c.1297C>G (p.Arg433Gly) rs769749617 0.00011
NM_000180.4(GUCY2D):c.3014C>T (p.Thr1005Ile) rs150185423 0.00011
NM_000180.4(GUCY2D):c.3238G>C (p.Gly1080Arg) rs371919912 0.00011
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225 0.00011
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe) rs11831931 0.00011
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg) rs377000187 0.00011
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu) rs368428115 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_152443.3(RDH12):c.569G>A (p.Ser190Asn) rs371107041 0.00011
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe) rs779451259 0.00011
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val) rs111761880 0.00011
NM_201253.3(CRB1):c.679G>A (p.Glu227Lys) rs190037839 0.00011
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_004744.5(LRAT):c.*549T>C rs886059165 0.00010
NM_004744.5(LRAT):c.*98C>T rs529360609 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys) rs573872325 0.00010
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371 0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_000180.4(GUCY2D):c.145G>T (p.Ala49Ser) rs771232307 0.00009
NM_000180.4(GUCY2D):c.3220C>T (p.Pro1074Ser) rs138869083 0.00009
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser) rs201075875 0.00009
NM_001122769.3(LCA5):c.1550G>T (p.Arg517Ile) rs140706052 0.00009
NM_001122769.3(LCA5):c.1912A>G (p.Asn638Asp) rs371962473 0.00009
NM_025114.4(CEP290):c.1523-6T>C rs755202424 0.00009
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) rs587783023 0.00009
NM_000180.4(GUCY2D):c.482C>T (p.Thr161Met) rs1454369607 0.00008
NM_000180.4(GUCY2D):c.887C>A (p.Ala296Asp) rs374679518 0.00008
NM_001122769.3(LCA5):c.1019A>G (p.Lys340Arg) rs577692224 0.00008
NM_014336.4(AIPL1):c.-73A>G rs751249166 0.00008
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg) rs755933899 0.00008
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_000180.4(GUCY2D):c.140C>T (p.Pro47Leu) rs1014118881 0.00007
NM_000180.4(GUCY2D):c.1868C>T (p.Thr623Met) rs370742162 0.00007
NM_000180.4(GUCY2D):c.2260G>A (p.Glu754Lys) rs747951577 0.00007
NM_000180.4(GUCY2D):c.2441C>T (p.Thr814Met) rs150742659 0.00007
NM_000180.4(GUCY2D):c.3274C>T (p.Arg1092Trp) rs746525316 0.00007
NM_000329.3(RPE65):c.676G>A (p.Val226Ile) rs750099371 0.00007
NM_001122769.3(LCA5):c.858+5G>C rs200302979 0.00007
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 0.00007
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn) rs1006177908 0.00007
NM_201253.3(CRB1):c.825G>A (p.Gly275=) rs149685264 0.00007
NM_206933.4(USH2A):c.14473C>T (p.His4825Tyr) rs1158010100 0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His) rs201386640 0.00007
NM_000180.4(GUCY2D):c.451G>A (p.Gly151Ser) rs773849840 0.00006
NM_000180.4(GUCY2D):c.520G>A (p.Ala174Thr) rs978982123 0.00006
NM_000180.4(GUCY2D):c.659C>T (p.Pro220Leu) rs769129492 0.00006
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys) rs144673747 0.00006
NM_004744.5(LRAT):c.*1585T>G rs886059168 0.00006
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027 0.00006
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val) rs1313832672 0.00006
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917 0.00006
NM_025114.4(CEP290):c.3573+3A>G rs199520739 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.4411C>T (p.Arg1471Trp) rs771110294 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met) rs369451049 0.00006
NM_025114.4(CEP290):c.5227-9A>G rs571981633 0.00006
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val) rs376307540 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr) rs201382524 0.00006
NM_201253.3(CRB1):c.1172-15T>A rs375141011 0.00006
NM_201253.3(CRB1):c.156T>C (p.Asn52=) rs143046320 0.00006
NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn) rs138936375 0.00006
NM_201253.3(CRB1):c.2826G>T (p.Val942=) rs781176401 0.00006
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp) rs200637525 0.00005
NM_001122769.3(LCA5):c.280C>T (p.Arg94Trp) rs771098708 0.00005
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys) rs373414042 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr) rs376033047 0.00005
NM_152443.3(RDH12):c.313A>G (p.Ile105Val) rs371493398 0.00005
NM_152443.3(RDH12):c.590G>T (p.Gly197Val) rs867284235 0.00005
NM_201253.3(CRB1):c.3852G>A (p.Met1284Ile) rs938864433 0.00005
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) rs148240351 0.00005
NM_000180.4(GUCY2D):c.1220C>T (p.Thr407Met) rs377650196 0.00004
NM_000180.4(GUCY2D):c.1274G>C (p.Gly425Ala) rs375468242 0.00004
NM_000180.4(GUCY2D):c.1288G>A (p.Ala430Thr) rs147586061 0.00004
NM_000180.4(GUCY2D):c.1298G>A (p.Arg433Gln) rs144151076 0.00004
NM_000180.4(GUCY2D):c.1805G>A (p.Arg602Gln) rs747173302 0.00004
NM_000180.4(GUCY2D):c.187G>A (p.Ala63Thr) rs761828482 0.00004
NM_000180.4(GUCY2D):c.1997G>A (p.Arg666Gln) rs147166962 0.00004
NM_000180.4(GUCY2D):c.2009G>A (p.Arg670Gln) rs369222553 0.00004
NM_000180.4(GUCY2D):c.2108C>T (p.Ala703Val) rs577880164 0.00004
NM_000180.4(GUCY2D):c.2162G>A (p.Arg721His) rs141352623 0.00004
NM_000180.4(GUCY2D):c.2165G>A (p.Arg722Gln) rs745426085 0.00004
NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met) rs561318435 0.00004
NM_000180.4(GUCY2D):c.2608C>A (p.Pro870Thr) rs1009898777 0.00004
NM_000180.4(GUCY2D):c.2831G>A (p.Arg944Gln) rs369527655 0.00004
NM_000180.4(GUCY2D):c.595C>A (p.Arg199Ser) rs917296356 0.00004
NM_000180.4(GUCY2D):c.802C>A (p.Leu268Met) rs780014587 0.00004
NM_000180.4(GUCY2D):c.98T>A (p.Leu33Gln) rs755150485 0.00004
NM_000329.3(RPE65):c.106C>T (p.Leu36Phe) rs371586530 0.00004
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys) rs369142161 0.00004
NM_000329.3(RPE65):c.1449T>C (p.Asp483=) rs201116540 0.00004
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr) rs281865291 0.00004
NM_000329.3(RPE65):c.268G>A (p.Val90Ile) rs370076628 0.00004
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_001122769.3(LCA5):c.1862G>A (p.Ser621Asn) rs756929736 0.00004
NM_001122769.3(LCA5):c.595A>G (p.Thr199Ala) rs775866690 0.00004
NM_001122769.3(LCA5):c.705C>T (p.Thr235=) rs774718880 0.00004
NM_025114.4(CEP290):c.1712-3T>C rs376688469 0.00004
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00004
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala) rs969763835 0.00004
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp) rs372321551 0.00004
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val) rs1038566350 0.00004
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His) rs774144082 0.00004
NM_025114.4(CEP290):c.3810A>G (p.Leu1270=) rs769060806 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287 0.00004
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val) rs762417751 0.00004
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=) rs779186037 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00004
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly) rs987259388 0.00004
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro) rs1006780282 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_152443.3(RDH12):c.187+3A>G rs568731074 0.00004
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln) rs765914942 0.00004
NM_152443.3(RDH12):c.755C>A (p.Ser252Tyr) rs376787473 0.00004
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) rs771549675 0.00004
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu) rs62636286 0.00004
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln) rs530046423 0.00004
NM_201253.3(CRB1):c.2403G>A (p.Lys801=) rs568010290 0.00004
NM_201253.3(CRB1):c.269G>A (p.Gly90Glu) rs368816923 0.00004
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg) rs776191501 0.00004
NM_201253.3(CRB1):c.4169G>A (p.Arg1390Gln) rs764581378 0.00004
NM_206933.4(USH2A):c.2135del (p.Asn711_Ser712insTer) rs1238314101 0.00004
NM_000180.4(GUCY2D):c.1495G>C (p.Gly499Arg) rs751263915 0.00003
NM_000180.4(GUCY2D):c.1519G>A (p.Val507Met) rs746002871 0.00003
NM_000180.4(GUCY2D):c.1721G>A (p.Arg574His) rs560270873 0.00003
NM_000180.4(GUCY2D):c.1828C>A (p.Leu610Ile) rs779224998 0.00003
NM_000180.4(GUCY2D):c.1987G>A (p.Ala663Thr) rs749314383 0.00003
NM_000180.4(GUCY2D):c.2551C>T (p.Arg851Trp) rs571236000 0.00003
NM_000180.4(GUCY2D):c.3175A>G (p.Arg1059Gly) rs878853342 0.00003
NM_000180.4(GUCY2D):c.3181G>A (p.Gly1061Ser) rs62641254 0.00003
NM_000180.4(GUCY2D):c.3272G>A (p.Arg1091Gln) rs773307918 0.00003
NM_000180.4(GUCY2D):c.479C>T (p.Thr160Ile) rs750399742 0.00003
NM_000180.4(GUCY2D):c.566C>T (p.Ala189Val) rs375259185 0.00003
NM_000180.4(GUCY2D):c.613C>T (p.Leu205Phe) rs764280512 0.00003
NM_000329.3(RPE65):c.524A>G (p.Asn175Ser) rs771863086 0.00003
NM_001122769.3(LCA5):c.*35del rs747368961 0.00003
NM_001122769.3(LCA5):c.827A>G (p.Lys276Arg) rs368131181 0.00003
NM_004744.5(LRAT):c.*2453C>A rs886059171 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.1877G>A (p.Ser626Asn) rs746124813 0.00003
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser) rs375523390 0.00003
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys) rs1337676817 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.534G>T (p.Gln178His) rs368025801 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=) rs561598805 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_152443.3(RDH12):c.878G>C (p.Arg293Thr) rs746131696 0.00003
NM_201253.3(CRB1):c.2305C>T (p.Arg769Cys) rs746307301 0.00003
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile) rs201893755 0.00003
NM_201253.3(CRB1):c.2813A>C (p.Gln938Pro) rs751018219 0.00003
NM_201253.3(CRB1):c.2874C>T (p.Ser958=) rs372778560 0.00003
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met) rs201349525 0.00003
NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn) rs147924782 0.00003
NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp) rs754054234 0.00003
NM_000180.4(GUCY2D):c.1021C>A (p.Gln341Lys) rs368799458 0.00002
NM_000180.4(GUCY2D):c.1116G>T (p.Trp372Cys) rs770255396 0.00002
NM_000180.4(GUCY2D):c.1405G>A (p.Gly469Ser) rs748301943 0.00002
NM_000180.4(GUCY2D):c.1469G>A (p.Arg490Gln) rs753488664 0.00002
NM_000180.4(GUCY2D):c.1564A>G (p.Lys522Glu) rs200189360 0.00002
NM_000180.4(GUCY2D):c.1566+3G>T rs752607737 0.00002
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys) rs61749754 0.00002
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000180.4(GUCY2D):c.1720C>T (p.Arg574Cys) rs137853897 0.00002
NM_000180.4(GUCY2D):c.1758G>T (p.Glu586Asp) rs765906787 0.00002
NM_000180.4(GUCY2D):c.1887C>A (p.Asp629Glu) rs770016889 0.00002
NM_000180.4(GUCY2D):c.1901G>C (p.Arg634Thr) rs759957436 0.00002
NM_000180.4(GUCY2D):c.2056G>A (p.Gly686Ser) rs766482364 0.00002
NM_000180.4(GUCY2D):c.206C>G (p.Ser69Cys) rs1328542671 0.00002
NM_000180.4(GUCY2D):c.218C>A (p.Pro73Gln) rs750153057 0.00002
NM_000180.4(GUCY2D):c.232C>T (p.Arg78Cys) rs558294899 0.00002
NM_000180.4(GUCY2D):c.2435G>A (p.Arg812Gln) rs201388569 0.00002
NM_000180.4(GUCY2D):c.2506C>T (p.Arg836Trp) rs145420245 0.00002
NM_000180.4(GUCY2D):c.2600C>T (p.Thr867Met) rs375727197 0.00002
NM_000180.4(GUCY2D):c.2743A>G (p.Ile915Val) rs1189392055 0.00002
NM_000180.4(GUCY2D):c.2921G>A (p.Arg974His) rs776083430 0.00002
NM_000180.4(GUCY2D):c.2943G>A (p.Ser981=) rs749863195 0.00002
NM_000180.4(GUCY2D):c.452G>A (p.Gly151Asp) rs890569519 0.00002
NM_000180.4(GUCY2D):c.576C>A (p.Asp192Glu) rs528169554 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000329.3(RPE65):c.1243+10T>C rs548537552 0.00002
NM_000329.3(RPE65):c.1339-4A>G rs746665921 0.00002
NM_000329.3(RPE65):c.1431T>C (p.Asp477=) rs570518981 0.00002
NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln) rs559975684 0.00002
NM_001122769.3(LCA5):c.706G>A (p.Glu236Lys) rs377719240 0.00002
NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser) rs587783025 0.00002
NM_002899.5(RBP1):c.387_400del (p.Lys131fs) rs587783020 0.00002
NM_014336.4(AIPL1):c.-21A>G rs373772674 0.00002
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile) rs373303674 0.00002
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.1677G>C (p.Met559Ile) rs1000099371 0.00002
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val) rs932362741 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu) rs1468626083 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg) rs772550529 0.00002
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val) rs1427374639 0.00002
NM_025114.4(CEP290):c.4268G>A (p.Arg1423His) rs774025278 0.00002
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val) rs564214956 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5371G>C (p.Val1791Leu) rs955877363 0.00002
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly) rs1460898199 0.00002
NM_025114.4(CEP290):c.563A>T (p.Asp188Val) rs746511786 0.00002
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln) rs773459272 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 0.00002
NM_025114.4(CEP290):c.835G>A (p.Asp279Asn) rs796540607 0.00002
NM_152443.3(RDH12):c.410C>G (p.Ala137Gly) rs779597637 0.00002
NM_152443.3(RDH12):c.542G>A (p.Gly181Asp) rs374403088 0.00002
NM_152443.3(RDH12):c.634C>T (p.Arg212Cys) rs146653515 0.00002
NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu) rs763122264 0.00002
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser) rs557111131 0.00002
NM_201253.3(CRB1):c.2901G>T (p.Gly967=) rs773815247 0.00002
NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp) rs760100325 0.00002
NM_201253.3(CRB1):c.867G>A (p.Thr289=) rs147244321 0.00002
NM_000180.4(GUCY2D):c.1037T>A (p.Leu346His) rs1372180006 0.00001
NM_000180.4(GUCY2D):c.1099G>A (p.Ala367Thr) rs754954638 0.00001
NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp) rs545271894 0.00001
NM_000180.4(GUCY2D):c.1148G>A (p.Arg383Gln) rs373827556 0.00001
NM_000180.4(GUCY2D):c.1154C>T (p.Ala385Val) rs1301307214 0.00001
NM_000180.4(GUCY2D):c.1225G>A (p.Ala409Thr) rs144565168 0.00001
NM_000180.4(GUCY2D):c.1255A>C (p.Met419Leu) rs1388468307 0.00001
NM_000180.4(GUCY2D):c.1257G>A (p.Met419Ile) rs202111469 0.00001
NM_000180.4(GUCY2D):c.1339C>T (p.Pro447Ser) rs1029006549 0.00001
NM_000180.4(GUCY2D):c.1403T>C (p.Leu468Pro) rs1406502907 0.00001
NM_000180.4(GUCY2D):c.1415T>C (p.Leu472Pro) rs1478819668 0.00001
NM_000180.4(GUCY2D):c.1433T>C (p.Leu478Pro) rs766944930 0.00001
NM_000180.4(GUCY2D):c.1449G>A (p.Leu483=) rs141346556 0.00001
NM_000180.4(GUCY2D):c.1547A>G (p.His516Arg) rs1345987699 0.00001
NM_000180.4(GUCY2D):c.1552G>A (p.Gly518Ser) rs537729498 0.00001
NM_000180.4(GUCY2D):c.1555A>C (p.Thr519Pro) rs1198818689 0.00001
NM_000180.4(GUCY2D):c.1562G>A (p.Arg521Gln) rs751520851 0.00001
NM_000180.4(GUCY2D):c.1566+4G>A rs1191933070 0.00001
NM_000180.4(GUCY2D):c.1573C>A (p.Gln525Lys) rs1168076308 0.00001
NM_000180.4(GUCY2D):c.1608G>A (p.Met536Ile) rs759173115 0.00001
NM_000180.4(GUCY2D):c.1645A>G (p.Ser549Gly) rs1243599161 0.00001
NM_000180.4(GUCY2D):c.16C>T (p.Arg6Cys) rs1975657387 0.00001
NM_000180.4(GUCY2D):c.1707G>T (p.Gln569His) rs568220391 0.00001
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val) rs61749756 0.00001
NM_000180.4(GUCY2D):c.1763G>A (p.Arg588Gln) rs1380583409 0.00001
NM_000180.4(GUCY2D):c.1852G>A (p.Val618Ile) rs767258249 0.00001
NM_000180.4(GUCY2D):c.1870C>T (p.Arg624Trp) rs757230483 0.00001
NM_000180.4(GUCY2D):c.1871G>A (p.Arg624Gln) rs746020263 0.00001
NM_000180.4(GUCY2D):c.1958G>A (p.Gly653Glu) rs139168077 0.00001
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp) rs757387072 0.00001
NM_000180.4(GUCY2D):c.2062G>A (p.Gly688Arg) rs144291605 0.00001
NM_000180.4(GUCY2D):c.2084A>G (p.Lys695Arg) rs1237783733 0.00001
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu) rs765463082 0.00001
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn) rs755464893 0.00001
NM_000180.4(GUCY2D):c.2156T>C (p.Leu719Pro) rs756464199 0.00001
NM_000180.4(GUCY2D):c.2182G>A (p.Asp728Asn) rs766646217 0.00001
NM_000180.4(GUCY2D):c.2262G>A (p.Glu754=) rs1975893237 0.00001
NM_000180.4(GUCY2D):c.2282G>A (p.Arg761Gln) rs764439180 0.00001
NM_000180.4(GUCY2D):c.2325G>T (p.Gln775His) rs368384232 0.00001
NM_000180.4(GUCY2D):c.2359T>G (p.Cys787Gly) rs368958527 0.00001
NM_000180.4(GUCY2D):c.2387C>T (p.Pro796Leu) rs1304876088 0.00001
NM_000180.4(GUCY2D):c.2412+4A>C rs951825929 0.00001
NM_000180.4(GUCY2D):c.2432G>A (p.Gly811Asp) rs750247123 0.00001
NM_000180.4(GUCY2D):c.2439G>C (p.Lys813Asn) rs1477300555 0.00001
NM_000180.4(GUCY2D):c.2467A>T (p.Met823Leu) rs1264291406 0.00001
NM_000180.4(GUCY2D):c.2507G>A (p.Arg836Gln) rs760126408 0.00001
NM_000180.4(GUCY2D):c.2509G>A (p.Glu837Lys) rs377594823 0.00001
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met) rs61750174 0.00001
NM_000180.4(GUCY2D):c.2576C>T (p.Pro859Leu) rs374515716 0.00001
NM_000180.4(GUCY2D):c.2578T>C (p.Ser860Pro) rs1214999566 0.00001
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys) rs1001538483 0.00001
NM_000180.4(GUCY2D):c.262C>A (p.Pro88Thr) rs1300514080 0.00001
NM_000180.4(GUCY2D):c.2683A>G (p.Met895Val) rs1180472258 0.00001
NM_000180.4(GUCY2D):c.277G>A (p.Gly93Ser) rs749432012 0.00001
NM_000180.4(GUCY2D):c.2795T>G (p.Met932Arg) rs766418901 0.00001
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu) rs1236572248 0.00001
NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro) rs61750182 0.00001
NM_000180.4(GUCY2D):c.2875G>A (p.Ala959Thr) rs768417052 0.00001
NM_000180.4(GUCY2D):c.2878G>A (p.Val960Met) rs781010216 0.00001
NM_000180.4(GUCY2D):c.295G>A (p.Ala99Thr) rs1304984076 0.00001
NM_000180.4(GUCY2D):c.296C>T (p.Ala99Val) rs1567957056 0.00001
NM_000180.4(GUCY2D):c.3065T>G (p.Leu1022Trp) rs866511152 0.00001
NM_000180.4(GUCY2D):c.3138+6G>T rs937146348 0.00001
NM_000180.4(GUCY2D):c.3179G>A (p.Arg1060His) rs563091520 0.00001
NM_000180.4(GUCY2D):c.3205C>T (p.Pro1069Ser) rs1187326101 0.00001
NM_000180.4(GUCY2D):c.3229A>G (p.Ser1077Gly) rs1249600456 0.00001
NM_000180.4(GUCY2D):c.3245G>C (p.Ser1082Thr) rs750743574 0.00001
NM_000180.4(GUCY2D):c.3283G>A (p.Glu1095Lys) rs1024155105 0.00001
NM_000180.4(GUCY2D):c.358C>T (p.Arg120Cys) rs1975671628 0.00001
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000180.4(GUCY2D):c.623G>A (p.Arg208Gln) rs765369504 0.00001
NM_000180.4(GUCY2D):c.652A>G (p.Met218Val) rs780953815 0.00001
NM_000180.4(GUCY2D):c.680G>A (p.Arg227Gln) rs770873775 0.00001
NM_000180.4(GUCY2D):c.696G>T (p.Lys232Asn) rs181800610 0.00001
NM_000180.4(GUCY2D):c.710C>A (p.Pro237His) rs765439946 0.00001
NM_000180.4(GUCY2D):c.793G>A (p.Glu265Lys) rs1346762413 0.00001
NM_000180.4(GUCY2D):c.808G>A (p.Asp270Asn) rs763099634 0.00001
NM_000180.4(GUCY2D):c.866C>T (p.Pro289Leu) rs1350341897 0.00001
NM_000329.3(RPE65):c.1034A>G (p.Asn345Ser) rs769440649 0.00001
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala) rs62636297 0.00001
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe) rs750724065 0.00001
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser) rs767931252 0.00001
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg) rs190761343 0.00001
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr) rs577335767 0.00001
NM_000329.3(RPE65):c.375A>G (p.Gly125=) rs992113946 0.00001
NM_000329.3(RPE65):c.382G>T (p.Val128Phe) rs375611153 0.00001
NM_000329.3(RPE65):c.417G>A (p.Val139=) rs536073181 0.00001
NM_000329.3(RPE65):c.743A>G (p.Asn248Ser) rs758264644 0.00001
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys) rs1343005273 0.00001
NM_000329.3(RPE65):c.783G>T (p.Leu261=) rs188493184 0.00001
NM_000329.3(RPE65):c.7A>G (p.Ile3Val) rs777461552 0.00001
NM_000329.3(RPE65):c.874G>A (p.Ala292Thr) rs377762154 0.00001
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys) rs761284021 0.00001
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832 0.00001
NM_001122769.3(LCA5):c.250C>T (p.Arg84Cys) rs750430540 0.00001
NM_001122769.3(LCA5):c.439C>T (p.Leu147=) rs141291555 0.00001
NM_001122769.3(LCA5):c.73T>C (p.Ser25Pro) rs199902236 0.00001
NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg) rs886037840 0.00001
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr) rs1012947103 0.00001
NM_002335.4(LRP5):c.1697G>A (p.Arg566His) rs587783024 0.00001
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) rs775838916 0.00001
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141 0.00001
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro) rs1429640081 0.00001
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys) rs753281190 0.00001
NM_025114.4(CEP290):c.1066-3T>C rs996569804 0.00001
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala) rs772026871 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.1517G>A (p.Arg506His) rs866571949 0.00001
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met) rs762272190 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr) rs776346956 0.00001
NM_025114.4(CEP290):c.1952T>C (p.Met651Thr) rs772165172 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) rs769216455 0.00001
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln) rs764117043 0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) rs762633090 0.00001
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.2587-3C>T rs759025964 0.00001
NM_025114.4(CEP290):c.2587-9T>C rs766982108 0.00001
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser) rs967541984 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_025114.4(CEP290):c.3064C>T (p.His1022Tyr) rs916545578 0.00001
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr) rs1421960607 0.00001
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp) rs1051440600 0.00001
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser) rs373207132 0.00001
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=) rs762723146 0.00001
NM_025114.4(CEP290):c.3529G>C (p.Asp1177His) rs1030787885 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly) rs1342978055 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712 0.00001
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu) rs765521933 0.00001
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022 0.00001
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr) rs761010723 0.00001
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337 0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4288A>C (p.Asn1430His) rs749261915 0.00001
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=) rs372184970 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr) rs1217427527 0.00001
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys) rs763605289 0.00001
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg) rs751352443 0.00001
NM_025114.4(CEP290):c.4812+6A>T rs769525877 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser) rs1064795491 0.00001
NM_025114.4(CEP290):c.5019A>G (p.Gln1673=) rs1259897302 0.00001
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val) rs542400806 0.00001
NM_025114.4(CEP290):c.521A>T (p.Glu174Val) rs774484028 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5459A>G (p.Asn1820Ser) rs776980750 0.00001
NM_025114.4(CEP290):c.5523G>A (p.Glu1841=) rs753424189 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His) rs745998591 0.00001
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr) rs527704077 0.00001
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu) rs752851135 0.00001
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr) rs535765861 0.00001
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly) rs779145328 0.00001
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln) rs1214939378 0.00001
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg) rs371397659 0.00001
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg) rs535571590 0.00001
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met) rs1355908667 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met) rs770168358 0.00001
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246 0.00001
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys) rs1233939358 0.00001
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn) rs534440681 0.00001
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile) rs756042946 0.00001
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly) rs762238709 0.00001
NM_025114.4(CEP290):c.787A>G (p.Ile263Val) rs1477583890 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 0.00001
NM_025114.4(CEP290):c.838C>T (p.His280Tyr) rs575493480 0.00001
NM_025114.4(CEP290):c.869A>G (p.Asp290Gly) rs958209779 0.00001
NM_152443.3(RDH12):c.165G>A (p.Thr55=) rs751674066 0.00001
NM_152443.3(RDH12):c.277C>T (p.Leu93=) rs143278615 0.00001
NM_152443.3(RDH12):c.302A>G (p.Asp101Gly) rs374675592 0.00001
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile) rs1206574200 0.00001
NM_152443.3(RDH12):c.465C>T (p.Thr155=) rs749242059 0.00001
NM_152443.3(RDH12):c.525G>A (p.Ser175=) rs756315539 0.00001
NM_152443.3(RDH12):c.578G>A (p.Arg193His) rs567973980 0.00001
NM_152443.3(RDH12):c.658+7C>T rs762391730 0.00001
NM_152443.3(RDH12):c.709C>G (p.Leu237Val) rs1377743038 0.00001
NM_152443.3(RDH12):c.748C>T (p.Leu250Phe) rs777424197 0.00001
NM_152443.3(RDH12):c.940C>T (p.Arg314Trp) rs773048895 0.00001
NM_199355.4(ADAMTS18):c.3419G>T (p.Gly1140Val) rs1567453873 0.00001
NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu) rs765500601 0.00001
NM_201253.3(CRB1):c.1086A>T (p.Gln362His) rs1022182632 0.00001
NM_201253.3(CRB1):c.1172-3C>G rs937310739 0.00001
NM_201253.3(CRB1):c.1636A>G (p.Ile546Val) rs745464770 0.00001
NM_201253.3(CRB1):c.1660G>T (p.Val554Leu) rs772386716 0.00001
NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile) rs1450290360 0.00001
NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser) rs767723282 0.00001
NM_201253.3(CRB1):c.2563G>A (p.Val855Ile) rs557930078 0.00001
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp) rs749366098 0.00001
NM_201253.3(CRB1):c.285G>C (p.Leu95=) rs753898127 0.00001
NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu) rs905306614 0.00001
NM_201253.3(CRB1):c.3250G>A (p.Asp1084Asn) rs769059111 0.00001
NM_201253.3(CRB1):c.3306C>T (p.Ile1102=) rs374786358 0.00001
NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe) rs763011436 0.00001
NM_201253.3(CRB1):c.3613G>A (p.Gly1205Arg) rs574742644 0.00001
NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu) rs759022743 0.00001
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His) rs746774206 0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) rs137853136 0.00001
NM_201253.3(CRB1):c.4000G>A (p.Val1334Met) rs754862028 0.00001
NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr) rs774187022 0.00001
NM_201253.3(CRB1):c.4165T>C (p.Ser1389Pro) rs1015110520 0.00001
NM_201253.3(CRB1):c.745G>A (p.Asp249Asn) rs1461964160 0.00001
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg) rs1412048468 0.00001
NM_201253.3(CRB1):c.976C>T (p.His326Tyr) rs773386179 0.00001
NC_000017.10:g.(?_7846709)_(8000124_?)dup
NC_000017.10:g.(?_7906366)_(8027402_?)dup
NM_000180.4(GUCY2D):c.1009G>A (p.Asp337Asn)
NM_000180.4(GUCY2D):c.1012C>G (p.Leu338Val) rs2151799779
NM_000180.4(GUCY2D):c.1018C>G (p.Leu340Val)
NM_000180.4(GUCY2D):c.1027G>T (p.Val343Phe)
NM_000180.4(GUCY2D):c.1031C>G (p.Ser344Cys) rs768812125
NM_000180.4(GUCY2D):c.1033C>G (p.Pro345Ala) rs755696904
NM_000180.4(GUCY2D):c.103C>G (p.Arg35Gly) rs1423033093
NM_000180.4(GUCY2D):c.104G>T (p.Arg35Leu) rs748156659
NM_000180.4(GUCY2D):c.1060G>A (p.Val354Ile) rs758931689
NM_000180.4(GUCY2D):c.1072G>A (p.Ala358Thr)
NM_000180.4(GUCY2D):c.1073C>T (p.Ala358Val)
NM_000180.4(GUCY2D):c.1080C>T (p.Gly360=) rs1264540934
NM_000180.4(GUCY2D):c.1094G>A (p.Arg365Gln) rs141917297
NM_000180.4(GUCY2D):c.110C>G (p.Pro37Arg)
NM_000180.4(GUCY2D):c.1120T>G (p.Ser374Ala) rs749607771
NM_000180.4(GUCY2D):c.1123G>A (p.Gly375Arg)
NM_000180.4(GUCY2D):c.112C>T (p.Leu38Phe)
NM_000180.4(GUCY2D):c.1139G>A (p.Arg380His)
NM_000180.4(GUCY2D):c.1148G>T (p.Arg383Leu)
NM_000180.4(GUCY2D):c.1183G>A (p.Gly395Arg)
NM_000180.4(GUCY2D):c.1192G>A (p.Glu398Lys)
NM_000180.4(GUCY2D):c.1210C>G (p.Leu404Val)
NM_000180.4(GUCY2D):c.1220C>A (p.Thr407Lys) rs377650196
NM_000180.4(GUCY2D):c.1220C>G (p.Thr407Arg) rs377650196
NM_000180.4(GUCY2D):c.1229C>G (p.Ala410Gly)
NM_000180.4(GUCY2D):c.1229C>T (p.Ala410Val) rs773030462
NM_000180.4(GUCY2D):c.1234G>A (p.Asp412Asn)
NM_000180.4(GUCY2D):c.1238G>A (p.Arg413Gln) rs1253086014
NM_000180.4(GUCY2D):c.1249A>T (p.Thr417Ser)
NM_000180.4(GUCY2D):c.1257G>T (p.Met419Ile) rs202111469
NM_000180.4(GUCY2D):c.1263T>A (p.Asp421Glu)
NM_000180.4(GUCY2D):c.1265C>T (p.Pro422Leu) rs2151800552
NM_000180.4(GUCY2D):c.1270C>T (p.Arg424Trp)
NM_000180.4(GUCY2D):c.1290C>A (p.Ala430=) rs141967896
NM_000180.4(GUCY2D):c.1296C>G (p.Thr432=)
NM_000180.4(GUCY2D):c.1297C>T (p.Arg433Trp) rs769749617
NM_000180.4(GUCY2D):c.1315G>T (p.Gly439Trp) rs140638938
NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del) rs2151799258
NM_000180.4(GUCY2D):c.1340C>T (p.Pro447Leu)
NM_000180.4(GUCY2D):c.1343C>T (p.Ser448Leu) rs61749679
NM_000180.4(GUCY2D):c.1354G>C (p.Asp452His)
NM_000180.4(GUCY2D):c.1356T>G (p.Asp452Glu)
NM_000180.4(GUCY2D):c.1376G>A (p.Gly459Glu)
NM_000180.4(GUCY2D):c.1378+5G>A rs2151800630
NM_000180.4(GUCY2D):c.1378+5G>C rs2151800630
NM_000180.4(GUCY2D):c.1378+8C>T rs1457493139
NM_000180.4(GUCY2D):c.1394T>G (p.Leu465Arg)
NM_000180.4(GUCY2D):c.1396G>C (p.Val466Leu)
NM_000180.4(GUCY2D):c.139C>T (p.Pro47Ser)
NM_000180.4(GUCY2D):c.13G>A (p.Ala5Thr) rs1975657312
NM_000180.4(GUCY2D):c.1408T>C (p.Phe470Leu)
NM_000180.4(GUCY2D):c.140C>G (p.Pro47Arg)
NM_000180.4(GUCY2D):c.1420G>A (p.Val474Ile)
NM_000180.4(GUCY2D):c.1457A>G (p.Tyr486Cys)
NM_000180.4(GUCY2D):c.145G>A (p.Ala49Thr)
NM_000180.4(GUCY2D):c.1464-3C>G
NM_000180.4(GUCY2D):c.1472T>C (p.Leu491Pro)
NM_000180.4(GUCY2D):c.1480A>G (p.Met494Val)
NM_000180.4(GUCY2D):c.1482G>A (p.Met494Ile) rs2151800878
NM_000180.4(GUCY2D):c.1489G>A (p.Val497Ile) rs767360120
NM_000180.4(GUCY2D):c.1489G>T (p.Val497Phe) rs767360120
NM_000180.4(GUCY2D):c.1501A>G (p.Asn501Asp) rs1975767998
NM_000180.4(GUCY2D):c.1517C>G (p.Thr506Ser)
NM_000180.4(GUCY2D):c.1522GAC[1] (p.Asp509del) rs879629840
NM_000180.4(GUCY2D):c.1544C>T (p.Pro515Leu) rs1975769511
NM_000180.4(GUCY2D):c.1576G>A (p.Gly526Arg) rs1975777337
NM_000180.4(GUCY2D):c.1580G>A (p.Ser527Asn)
NM_000180.4(GUCY2D):c.1595G>C (p.Gly532Ala)
NM_000180.4(GUCY2D):c.1601G>T (p.Arg534Leu)
NM_000180.4(GUCY2D):c.1619G>A (p.Arg540His) rs372005126
NM_000180.4(GUCY2D):c.1619G>T (p.Arg540Leu) rs372005126
NM_000180.4(GUCY2D):c.1627C>T (p.Pro543Ser)
NM_000180.4(GUCY2D):c.1647C>A (p.Ser549Arg)
NM_000180.4(GUCY2D):c.1660G>A (p.Val554Ile) rs1975779836
NM_000180.4(GUCY2D):c.1668+4A>T
NM_000180.4(GUCY2D):c.169G>C (p.Gly57Arg)
NM_000180.4(GUCY2D):c.1714G>C (p.Ala572Pro)
NM_000180.4(GUCY2D):c.1748A>C (p.Lys583Thr)
NM_000180.4(GUCY2D):c.1749G>C (p.Lys583Asn)
NM_000180.4(GUCY2D):c.1750-6T>C
NM_000180.4(GUCY2D):c.1759C>G (p.Leu587Val)
NM_000180.4(GUCY2D):c.1759C>T (p.Leu587Phe)
NM_000180.4(GUCY2D):c.1766A>G (p.His589Arg) rs2151802328
NM_000180.4(GUCY2D):c.1770G>T (p.Glu590Asp)
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp) rs1975862803
NM_000180.4(GUCY2D):c.1774G>A (p.Val592Met) rs373362030
NM_000180.4(GUCY2D):c.1780C>T (p.Leu594Phe)
NM_000180.4(GUCY2D):c.1781T>A (p.Leu594His)
NM_000180.4(GUCY2D):c.1787T>A (p.Leu596Gln)
NM_000180.4(GUCY2D):c.1802C>T (p.Ala601Val)
NM_000180.4(GUCY2D):c.1804C>T (p.Arg602Trp) rs770740012
NM_000180.4(GUCY2D):c.1817G>A (p.Gly606Asp) rs1451847992
NM_000180.4(GUCY2D):c.1825G>A (p.Ala609Thr) rs1009884304
NM_000180.4(GUCY2D):c.1828C>G (p.Leu610Val)
NM_000180.4(GUCY2D):c.1838G>T (p.Gly613Val) rs2151802372
NM_000180.4(GUCY2D):c.1841A>C (p.Asn614Thr) rs1975865453
NM_000180.4(GUCY2D):c.1841A>G (p.Asn614Ser) rs1975865453
NM_000180.4(GUCY2D):c.1843C>G (p.Leu615Val)
NM_000180.4(GUCY2D):c.1847C>T (p.Ala616Val)
NM_000180.4(GUCY2D):c.1865G>T (p.Cys622Phe)
NM_000180.4(GUCY2D):c.1868C>G (p.Thr623Arg)
NM_000180.4(GUCY2D):c.1894G>A (p.Ala632Thr)
NM_000180.4(GUCY2D):c.1904A>G (p.Glu635Gly) rs1975867670
NM_000180.4(GUCY2D):c.1915G>T (p.Asp639Tyr)
NM_000180.4(GUCY2D):c.1956+11G>A
NM_000180.4(GUCY2D):c.1960A>C (p.Ile654Leu)
NM_000180.4(GUCY2D):c.1976A>G (p.His659Arg)
NM_000180.4(GUCY2D):c.1978C>G (p.Arg660Gly) rs61750161
NM_000180.4(GUCY2D):c.2015G>A (p.Cys672Tyr) rs1975873821
NM_000180.4(GUCY2D):c.2052C>A (p.Asp684Glu) rs935195316
NM_000180.4(GUCY2D):c.2093C>G (p.Pro698Arg) rs200128473
NM_000180.4(GUCY2D):c.209G>C (p.Arg70Pro)
NM_000180.4(GUCY2D):c.2107G>A (p.Ala703Thr) rs1270111845
NM_000180.4(GUCY2D):c.2112G>A (p.Glu704=)
NM_000180.4(GUCY2D):c.2113G>T (p.Asp705Tyr) rs1434526446
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg) rs1064797217
NM_000180.4(GUCY2D):c.2153C>G (p.Ala718Gly) rs2151802784
NM_000180.4(GUCY2D):c.2176G>A (p.Ala726Thr) rs1459595665
NM_000180.4(GUCY2D):c.2185G>A (p.Val729Ile)
NM_000180.4(GUCY2D):c.2190T>A (p.Phe730Leu)
NM_000180.4(GUCY2D):c.2204T>C (p.Ile735Thr) rs1975891409
NM_000180.4(GUCY2D):c.2206A>G (p.Met736Val) rs2151802824
NM_000180.4(GUCY2D):c.2207T>C (p.Met736Thr)
NM_000180.4(GUCY2D):c.2224C>T (p.Arg742Cys) rs532577225
NM_000180.4(GUCY2D):c.2266GTG[1] (p.Val757del) rs2151803037
NM_000180.4(GUCY2D):c.2290C>G (p.Pro764Ala)
NM_000180.4(GUCY2D):c.2290C>T (p.Pro764Ser) rs1975906957
NM_000180.4(GUCY2D):c.2312T>A (p.Val771Glu) rs2151803073
NM_000180.4(GUCY2D):c.2326G>A (p.Ala776Thr)
NM_000180.4(GUCY2D):c.232_243dup (p.Arg78_Ala81dup) rs1975666989
NM_000180.4(GUCY2D):c.2335G>A (p.Glu779Lys)
NM_000180.4(GUCY2D):c.2339G>A (p.Cys780Tyr) rs1187359735
NM_000180.4(GUCY2D):c.2348T>C (p.Leu783Pro) rs1166312966
NM_000180.4(GUCY2D):c.2351T>C (p.Met784Thr)
NM_000180.4(GUCY2D):c.2354A>C (p.Lys785Thr)
NM_000180.4(GUCY2D):c.2375C>T (p.Pro792Leu)
NM_000180.4(GUCY2D):c.2377G>A (p.Glu793Lys)
NM_000180.4(GUCY2D):c.238_252dup (p.Ala80_Leu84dup) rs952193754
NM_000180.4(GUCY2D):c.2392A>G (p.Met798Val) rs1975911307
NM_000180.4(GUCY2D):c.239C>T (p.Ala80Val)
NM_000180.4(GUCY2D):c.2402C>A (p.Thr801Asn)
NM_000180.4(GUCY2D):c.2412G>T (p.Leu804=)
NM_000180.4(GUCY2D):c.2431G>A (p.Gly811Ser) rs1196292120
NM_000180.4(GUCY2D):c.2434C>G (p.Arg812Gly) rs894774212
NM_000180.4(GUCY2D):c.2434C>T (p.Arg812Trp)
NM_000180.4(GUCY2D):c.2450T>C (p.Ile817Thr)
NM_000180.4(GUCY2D):c.2464C>T (p.Arg822Trp)
NM_000180.4(GUCY2D):c.2465G>A (p.Arg822Gln)
NM_000180.4(GUCY2D):c.2465G>C (p.Arg822Pro) rs398123233
NM_000180.4(GUCY2D):c.2473G>A (p.Glu825Lys)
NM_000180.4(GUCY2D):c.2479T>G (p.Tyr827Asp) rs2151803325
NM_000180.4(GUCY2D):c.2480A>G (p.Tyr827Cys) rs1975925661
NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro) rs1975925973
NM_000180.4(GUCY2D):c.2494G>A (p.Glu832Lys) rs1975926150
NM_000180.4(GUCY2D):c.2515A>C (p.Thr839Pro)
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg) rs61750174
NM_000180.4(GUCY2D):c.2523GCTGGA[3] (p.Glu845_Lys846insLeuGlu)
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro) rs962715477
NM_000180.4(GUCY2D):c.2572C>A (p.Pro858Thr) rs61750176
NM_000180.4(GUCY2D):c.2600C>A (p.Thr867Lys) rs375727197
NM_000180.4(GUCY2D):c.260A>C (p.Asp87Ala)
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.2624A>G (p.Tyr875Cys) rs1300820031
NM_000180.4(GUCY2D):c.2626T>A (p.Phe876Ile)
NM_000180.4(GUCY2D):c.2634A>G (p.Gln878=)
NM_000180.4(GUCY2D):c.2659G>T (p.Val887Leu)
NM_000180.4(GUCY2D):c.2674A>G (p.Ile892Val) rs1165720101
NM_000180.4(GUCY2D):c.2685G>A (p.Met895Ile)
NM_000180.4(GUCY2D):c.2707G>T (p.Asp903Tyr) rs1975936032
NM_000180.4(GUCY2D):c.272C>A (p.Ala91Glu)
NM_000180.4(GUCY2D):c.2746A>G (p.Ile916Val)
NM_000180.4(GUCY2D):c.2749G>T (p.Gly917Cys)
NM_000180.4(GUCY2D):c.2779A>G (p.Ile927Val) rs1975943872
NM_000180.4(GUCY2D):c.277G>C (p.Gly93Arg) rs749432012
NM_000180.4(GUCY2D):c.2788G>A (p.Ala930Thr) rs1370972064
NM_000180.4(GUCY2D):c.2813C>G (p.Pro938Arg) rs1975945188
NM_000180.4(GUCY2D):c.2830C>G (p.Arg944Gly) rs756575304
NM_000180.4(GUCY2D):c.2836G>C (p.Ala946Pro)
NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu) rs61750180
NM_000180.4(GUCY2D):c.2842G>A (p.Glu948Lys) rs2151803652
NM_000180.4(GUCY2D):c.2845A>C (p.Ile949Leu)
NM_000180.4(GUCY2D):c.284G>C (p.Arg95Pro) rs1285198149
NM_000180.4(GUCY2D):c.2878G>C (p.Val960Leu)
NM_000180.4(GUCY2D):c.2881G>C (p.Gly961Arg) rs2151803673
NM_000180.4(GUCY2D):c.2882G>T (p.Gly961Val)
NM_000180.4(GUCY2D):c.2896C>G (p.Arg966Gly) rs933256547
NM_000180.4(GUCY2D):c.2897G>A (p.Arg966His)
NM_000180.4(GUCY2D):c.289G>A (p.Glu97Lys)
NM_000180.4(GUCY2D):c.2900A>G (p.His967Arg)
NM_000180.4(GUCY2D):c.2904G>T (p.Met968Ile) rs1975948376
NM_000180.4(GUCY2D):c.2917G>A (p.Val973Met)
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2929A>T (p.Ile977Leu)
NM_000180.4(GUCY2D):c.2933G>A (p.Gly978Asp) rs754320374
NM_000180.4(GUCY2D):c.2933G>C (p.Gly978Ala)
NM_000180.4(GUCY2D):c.2933G>T (p.Gly978Val) rs754320374
NM_000180.4(GUCY2D):c.2938C>T (p.His980Tyr)
NM_000180.4(GUCY2D):c.2945-7_2945-6del rs754170656
NM_000180.4(GUCY2D):c.2950T>C (p.Cys984Arg) rs1975956164
NM_000180.4(GUCY2D):c.295G>T (p.Ala99Ser) rs1304984076
NM_000180.4(GUCY2D):c.2965G>C (p.Val989Leu) rs1248867031
NM_000180.4(GUCY2D):c.2978del (p.Met993fs) rs1598151437
NM_000180.4(GUCY2D):c.3005C>T (p.Thr1002Met) rs1462685344
NM_000180.4(GUCY2D):c.305C>A (p.Pro102His)
NM_000180.4(GUCY2D):c.3067A>G (p.Ser1023Gly)
NM_000180.4(GUCY2D):c.3085C>T (p.Arg1029Cys)
NM_000180.4(GUCY2D):c.3101G>A (p.Gly1034Asp)
NM_000180.4(GUCY2D):c.3106C>A (p.Gln1036Lys) rs61750192
NM_000180.4(GUCY2D):c.3122G>A (p.Gly1041Asp) rs1975964730
NM_000180.4(GUCY2D):c.3125G>A (p.Arg1042His)
NM_000180.4(GUCY2D):c.3128C>T (p.Thr1043Met) rs1289590584
NM_000180.4(GUCY2D):c.3137A>G (p.Lys1046Arg)
NM_000180.4(GUCY2D):c.3139-3C>G rs771769796
NM_000180.4(GUCY2D):c.3140G>A (p.Gly1047Asp)
NM_000180.4(GUCY2D):c.3148G>T (p.Ala1050Ser) rs1221467842
NM_000180.4(GUCY2D):c.3151G>A (p.Glu1051Lys) rs1273973537
NM_000180.4(GUCY2D):c.3167T>C (p.Leu1056Pro) rs2151804090
NM_000180.4(GUCY2D):c.317G>T (p.Arg106Leu)
NM_000180.4(GUCY2D):c.3188A>G (p.Asn1063Ser) rs1975972260
NM_000180.4(GUCY2D):c.319A>G (p.Thr107Ala) rs2151799362
NM_000180.4(GUCY2D):c.3200C>A (p.Pro1067His)
NM_000180.4(GUCY2D):c.3224+3G>T rs1258995063
NM_000180.4(GUCY2D):c.3224+6G>A
NM_000180.4(GUCY2D):c.3225-2A>T
NM_000180.4(GUCY2D):c.323C>T (p.Pro108Leu) rs2151799367
NM_000180.4(GUCY2D):c.3258C>G (p.Ile1086Met)
NM_000180.4(GUCY2D):c.325G>T (p.Gly109Cys)
NM_000180.4(GUCY2D):c.3265G>A (p.Glu1089Lys) rs779735498
NM_000180.4(GUCY2D):c.3265G>C (p.Glu1089Gln)
NM_000180.4(GUCY2D):c.3268C>T (p.Arg1090Trp)
NM_000180.4(GUCY2D):c.3269G>A (p.Arg1090Gln) rs371952237
NM_000180.4(GUCY2D):c.3289G>T (p.Ala1097Ser)
NM_000180.4(GUCY2D):c.3292C>G (p.Arg1098Gly) rs776624188
NM_000180.4(GUCY2D):c.3292C>T (p.Arg1098Trp) rs776624188
NM_000180.4(GUCY2D):c.3311G>C (p.Ter1104Ser) rs1301554038
NM_000180.4(GUCY2D):c.340G>T (p.Val114Leu) rs1240857882
NM_000180.4(GUCY2D):c.346T>C (p.Ser116Pro) rs2151799381
NM_000180.4(GUCY2D):c.392C>A (p.Ala131Glu)
NM_000180.4(GUCY2D):c.400C>T (p.Arg134Trp) rs2151799404
NM_000180.4(GUCY2D):c.40C>A (p.Pro14Thr)
NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala) rs1975658549
NM_000180.4(GUCY2D):c.411G>C (p.Glu137Asp)
NM_000180.4(GUCY2D):c.418G>A (p.Ala140Thr) rs776276813
NM_000180.4(GUCY2D):c.431G>T (p.Gly144Val) rs1975674167
NM_000180.4(GUCY2D):c.448T>C (p.Trp150Arg)
NM_000180.4(GUCY2D):c.449G>C (p.Trp150Ser)
NM_000180.4(GUCY2D):c.457C>T (p.Pro153Ser)
NM_000180.4(GUCY2D):c.475G>A (p.Gly159Ser) rs1975674812
NM_000180.4(GUCY2D):c.485C>A (p.Ala162Asp)
NM_000180.4(GUCY2D):c.490G>A (p.Ala164Thr)
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg) rs1008930073
NM_000180.4(GUCY2D):c.520G>T (p.Ala174Ser) rs978982123
NM_000180.4(GUCY2D):c.521C>A (p.Ala174Asp)
NM_000180.4(GUCY2D):c.526C>T (p.Leu176Phe) rs1975677447
NM_000180.4(GUCY2D):c.533C>T (p.Ala178Val)
NM_000180.4(GUCY2D):c.569C>G (p.Pro190Arg) rs1484809146
NM_000180.4(GUCY2D):c.590C>T (p.Ala197Val)
NM_000180.4(GUCY2D):c.595C>T (p.Arg199Cys) rs917296356
NM_000180.4(GUCY2D):c.596G>C (p.Arg199Pro) rs1370721862
NM_000180.4(GUCY2D):c.598T>C (p.Ser200Pro)
NM_000180.4(GUCY2D):c.607A>T (p.Thr203Ser) rs1975680506
NM_000180.4(GUCY2D):c.608C>T (p.Thr203Met) rs1975680589
NM_000180.4(GUCY2D):c.685G>T (p.Ala229Ser)
NM_000180.4(GUCY2D):c.693G>T (p.Arg231Ser) rs759280279
NM_000180.4(GUCY2D):c.705C>A (p.Asp235Glu)
NM_000180.4(GUCY2D):c.721+5G>C
NM_000180.4(GUCY2D):c.721+5G>T rs1389913804
NM_000180.4(GUCY2D):c.722-17C>T
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly) rs1975686657
NM_000180.4(GUCY2D):c.736A>G (p.Met246Val) rs959135126
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000180.4(GUCY2D):c.743C>G (p.Ser248Trp) rs138922415
NM_000180.4(GUCY2D):c.752T>C (p.Leu251Pro) rs1243270832
NM_000180.4(GUCY2D):c.763G>A (p.Glu255Lys)
NM_000180.4(GUCY2D):c.767A>C (p.Gln256Pro) rs2151799650
NM_000180.4(GUCY2D):c.785C>A (p.Ala262Asp)
NM_000180.4(GUCY2D):c.787G>C (p.Ala263Pro)
NM_000180.4(GUCY2D):c.787G>T (p.Ala263Ser) rs745444949
NM_000180.4(GUCY2D):c.796C>G (p.Leu266Val)
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn) rs1478566225
NM_000180.4(GUCY2D):c.838A>G (p.Thr280Ala)
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup) rs2151799690
NM_000180.4(GUCY2D):c.857C>T (p.Ser286Phe)
NM_000180.4(GUCY2D):c.85C>T (p.Leu29Phe)
NM_000180.4(GUCY2D):c.884T>G (p.Leu295Arg) rs2151799705
NM_000180.4(GUCY2D):c.890A>G (p.Asn297Ser)
NM_000180.4(GUCY2D):c.915C>G (p.His305Gln)
NM_000180.4(GUCY2D):c.91C>G (p.Arg31Gly)
NM_000180.4(GUCY2D):c.92G>A (p.Arg31Gln)
NM_000180.4(GUCY2D):c.934A>G (p.Thr312Ala)
NM_000180.4(GUCY2D):c.935C>A (p.Thr312Lys)
NM_000180.4(GUCY2D):c.935C>G (p.Thr312Arg) rs61749673
NM_000180.4(GUCY2D):c.94_105del (p.Ala32_Arg35del)
NM_000180.4(GUCY2D):c.956_967dup (p.Gly319_Leu322dup) rs1248938251
NM_000180.4(GUCY2D):c.983C>A (p.Ala328Asp)
NM_000180.4(GUCY2D):c.992G>T (p.Arg331Leu)
NM_000180.4(GUCY2D):c.995G>C (p.Arg332Pro)
NM_000180.4(GUCY2D):c.997G>C (p.Glu333Gln) rs755999834
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000329.3(RPE65):c.*735del rs577675068
NM_000329.3(RPE65):c.1152C>G (p.Val384=) rs1571158917
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) rs34627040
NM_000329.3(RPE65):c.1454T>C (p.Val485Ala) rs1645808193
NM_000329.3(RPE65):c.1574C>A (p.Thr525Asn) rs879123797
NM_000329.3(RPE65):c.293T>C (p.Ile98Thr) rs1645930635
NM_000329.3(RPE65):c.505T>C (p.Cys169Arg) rs1645898589
NM_000329.3(RPE65):c.58G>A (p.Glu20Lys) rs755545288
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.751G>A (p.Val251Ile) rs1325815513
NM_000329.3(RPE65):c.975T>C (p.Ile325=) rs761227832
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*754_*756dup rs60558029
NM_000554.6(CRX):c.*756dup rs60558029
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His) rs1584727989
NM_001009894.3(RLIG1):c.*618TATT[1] rs886049876
NM_001103146.3(GIGYF2):c.532+5018dup rs746052279
NM_001103146.3(GIGYF2):c.532+6575_532+6576del rs758195599
NM_001122769.3(LCA5):c.*22dup rs767286706
NM_001122769.3(LCA5):c.-251G>A rs886061793
NM_001122769.3(LCA5):c.1101C>T (p.Asp367=) rs1769766843
NM_001122769.3(LCA5):c.1267G>C (p.Glu423Gln) rs777920075
NM_001122769.3(LCA5):c.165T>G (p.Thr55=) rs534076319
NM_001122769.3(LCA5):c.1805C>G (p.Ala602Gly) rs1769692203
NM_001122769.3(LCA5):c.469A>G (p.Ile157Val) rs901281230
NM_001122769.3(LCA5):c.484T>C (p.Phe162Leu) rs533963525
NM_001164688.2(RD3):c.*1305del rs886045896
NM_001164688.2(RD3):c.*1582del rs879756831
NM_001164688.2(RD3):c.*1582dup rs879756831
NM_001164688.2(RD3):c.*1583del rs775682217
NM_001164688.2(RD3):c.-166GA[1] rs886045903
NM_001164688.2(RD3):c.-292_-291del rs1553282313
NM_001164688.2(RD3):c.-302_-294delinsC rs886045910
NM_001164688.2(RD3):c.-304_-294delinsC rs886045911
NM_001164688.2(RD3):c.-336AC[16] rs34485370
NM_001164688.2(RD3):c.-336AC[19] rs34485370
NM_001164688.2(RD3):c.-336AC[20] rs34485370
NM_001164688.2(RD3):c.-336AC[21] rs34485370
NM_001164688.2(RD3):c.-336AC[23] rs34485370
NM_001164688.2(RD3):c.-336AC[24] rs34485370
NM_001164688.2(RD3):c.-337_-336del rs886045915
NM_001164688.2(RD3):c.-340_-337del rs886045916
NM_004744.5(LRAT):c.*2418G>A rs886059170
NM_004744.5(LRAT):c.*2463T>C rs530211304
NM_004744.5(LRAT):c.*2467C>G rs886059172
NM_004744.5(LRAT):c.*2477_*2479del rs769393659
NM_004744.5(LRAT):c.*298_*301del rs886059162
NM_004744.5(LRAT):c.*313del rs146990234
NM_004744.5(LRAT):c.*3435A>C rs886059176
NM_004744.5(LRAT):c.*3459dup rs369562633
NM_004744.5(LRAT):c.*3729del rs886059177
NM_004744.5(LRAT):c.-115C>G rs886059159
NM_004744.5(LRAT):c.258G>A (p.Gly86=) rs768389044
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser) rs1035206645
NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs) rs1554519422
NM_014336.5(AIPL1):c.*1398G>A rs886053259
NM_014336.5(AIPL1):c.*150_*151insCAA rs200523461
NM_014336.5(AIPL1):c.*151_*152dup rs77115868
NM_014336.5(AIPL1):c.*153_*154del rs886053263
NM_014336.5(AIPL1):c.*153_*155del rs886053262
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*887CAAAA[2] rs375369909
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.730GAG[1] (p.Glu245del) rs1200311161
NM_014714.4(IFT140):c.2501G>C (p.Arg834Pro) rs771116194
NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro) rs2141175065
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs) rs587783021
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu) rs587783026
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro) rs1600361737
NM_020366.4(RPGRIP1):c.3748+17dup rs578107768
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1333C>G (p.Leu445Val) rs2039364974
NM_025114.4(CEP290):c.1349A>G (p.Asp450Gly) rs777867610
NM_025114.4(CEP290):c.1516C>T (p.Arg506Cys) rs368427967
NM_025114.4(CEP290):c.1522+8A>G rs1410927153
NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg) rs1390141039
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val) rs1459958084
NM_025114.4(CEP290):c.188C>T (p.Ala63Val) rs769705891
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile) rs2038915965
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr) rs2038714969
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val) rs200454865
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2217+3G>C rs765291878
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln) rs1360220092
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
NM_025114.4(CEP290):c.231A>G (p.Gly77=) rs753852812
NM_025114.4(CEP290):c.2326A>G (p.Ile776Val) rs2038667289
NM_025114.4(CEP290):c.2379_2381del (p.Asn793del) rs2038499476
NM_025114.4(CEP290):c.2400T>G (p.Asn800Lys) rs2038497441
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) rs955251811
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2670A>C (p.Gln890His) rs2038316964
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=) rs1393060819
NM_025114.4(CEP290):c.2946A>T (p.Lys982Asn) rs2037999495
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile) rs2037998907
NM_025114.4(CEP290):c.3040C>T (p.Leu1014=) rs2037475960
NM_025114.4(CEP290):c.3181A>G (p.Met1061Val) rs1201486566
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln) rs1298561837
NM_025114.4(CEP290):c.3239A>G (p.Tyr1080Cys) rs902039539
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp) rs372918770
NM_025114.4(CEP290):c.328A>G (p.Thr110Ala) rs750018041
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3321C>T (p.Ile1107=) rs2037149786
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys) rs766095901
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe) rs2036979298
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3675A>C (p.Thr1225=) rs2036843900
NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val) rs1282211647
NM_025114.4(CEP290):c.3905A>C (p.Gln1302Pro) rs1064794650
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=) rs1361449401
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.3980G>A (p.Gly1327Asp) rs959651787
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly) rs1270381017
NM_025114.4(CEP290):c.4366G>A (p.Ala1456Thr) rs375111436
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) rs371157150
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5366C>T (p.Thr1789Ile) rs2035901966
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg) rs2035881706
NM_025114.4(CEP290):c.5742A>C (p.Glu1914Asp) rs2035405223
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly) rs2035394009
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys) rs779867970
NM_025114.4(CEP290):c.5972A>C (p.Lys1991Thr) rs1178644600
NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr) rs1592782496
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala) rs2136913105
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=) rs2035114777
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558
NM_025114.4(CEP290):c.623T>G (p.Leu208Trp) rs2039987503
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser) rs762397066
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile) rs1017249180
NM_025114.4(CEP290):c.6548A>C (p.His2183Pro) rs2034340081
NM_025114.4(CEP290):c.6573C>G (p.His2191Gln) rs1316821873
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg) rs1337960015
NM_025114.4(CEP290):c.6960+5_6960+8del rs2033930168
NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr) rs540340404
NM_025114.4(CEP290):c.7133C>G (p.Ala2378Gly) rs1565777729
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.7209+7T>C rs745813087
NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del) rs1345322609
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs) rs757255407
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser) rs1159836808
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del) rs777398895
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp) rs2039957080
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.835G>T (p.Asp279Tyr) rs796540607
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_025114.4(CEP290):c.92C>T (p.Ser31Phe) rs1378106199
NM_025114.4(CEP290):c.984G>C (p.Gln328His) rs776256270
NM_152443.3(RDH12):c.*1C>G rs2038317945
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.187+5G>A rs2038164046
NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del) rs754556714
NM_152443.3(RDH12):c.2T>C (p.Met1Thr)
NM_152443.3(RDH12):c.540T>G (p.Ile180Met) rs778933833
NM_152443.3(RDH12):c.608G>C (p.Ser203Thr) rs1374822427
NM_152443.3(RDH12):c.634C>G (p.Arg212Gly) rs146653515
NM_152443.3(RDH12):c.641T>C (p.Leu214Pro) rs998898101
NM_152443.3(RDH12):c.739C>T (p.Leu247Phe) rs1185491186
NM_152443.3(RDH12):c.758C>G (p.Pro253Arg) rs770465995
NM_152443.3(RDH12):c.758C>T (p.Pro253Leu) rs770465995
NM_152443.3(RDH12):c.771G>A (p.Thr257=) rs1035808739
NM_152443.3(RDH12):c.878G>T (p.Arg293Met) rs746131696
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339
NM_153240.5(NPHP3):c.1735A>C (p.Thr579Pro) rs587783022
NM_201253.3(CRB1):c.*331_*337dup rs886045790
NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys) rs116347915
NM_201253.3(CRB1):c.1094G>A (p.Arg365His) rs777528044
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile) rs751691851
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.1431G>A (p.Gly477=) rs761872993
NM_201253.3(CRB1):c.200G>C (p.Cys67Ser) rs749112809
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.2066A>G (p.Asn689Ser) rs1664351600
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu) rs1664651920
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) rs201700675
NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala) rs1485086776
NM_201253.3(CRB1):c.245G>A (p.Ser82Asn) rs1658661237
NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu) rs1664680830
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2805C>A (p.His935Gln) rs767706271
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile) rs766793013
NM_201253.3(CRB1):c.2930C>A (p.Thr977Lys) rs1665046846
NM_201253.3(CRB1):c.2963T>C (p.Ile988Thr) rs1571555801
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) rs1452661857
NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg) rs779253997
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) rs794727317
NM_201253.3(CRB1):c.3521G>C (p.Cys1174Ser) rs1665102302
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys) rs1007094417
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup) rs750573216
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly) rs1571645627
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp) rs765740058
NM_201253.3(CRB1):c.479G>A (p.Gly160Glu) rs1352663513
NM_201253.3(CRB1):c.512C>G (p.Ser171Cys) rs763841981
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser) rs1659650891
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu) rs930465675
NM_201253.3(CRB1):c.97A>G (p.Arg33Gly) rs1452416023
NM_201253.3(CRB1):c.988+10A>T rs1659846392
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126

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