ClinVar Miner

List of variants studied for Leber congenital amaurosis 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2402
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.1410A>G (p.Leu470=) rs3902057 0.92528
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) rs2064318 0.84569
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser) rs2655655 0.84544
NM_001164688.2(RD3):c.-201_-200insC rs11463656 0.65004
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317 0.36637
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845 0.36167
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_004744.5(LRAT):c.*2670G>T rs17032000 0.13064
NM_000180.4(GUCY2D):c.2576+37G>T rs12103471 0.12387
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=) rs56130505 0.11446
NM_000180.4(GUCY2D):c.741C>T (p.His247=) rs3829789 0.10665
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_004744.5(LRAT):c.*1338T>G rs12507608 0.09793
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981 0.09214
NM_000554.5(CRX):c.-116T>C rs10418215 0.08435
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_000329.3(RPE65):c.246-46G>A rs3790471 0.03558
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_000180.4(GUCY2D):c.3044-7G>T rs56348143 0.02884
NM_004744.5(LRAT):c.*3618G>A rs17032002 0.02639
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_001122769.3(LCA5):c.197G>A (p.Arg66Gln) rs35338066 0.02087
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424 0.01951
NM_004744.5(LRAT):c.*2625A>G rs77071498 0.01933
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238 0.01492
NM_000180.4(GUCY2D):c.3043+20G>C rs78844078 0.01374
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_201253.3(CRB1):c.2677-8C>T rs73071678 0.00970
NR_148338.1(LOC107986845):n.884G>A rs183121204 0.00938
NM_004744.5(LRAT):c.*2529C>T rs185391295 0.00852
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_001122769.3(LCA5):c.586C>T (p.Leu196=) rs114426854 0.00773
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_004744.5(LRAT):c.*3264G>A rs115053323 0.00575
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281 0.00461
NM_003322.6(TULP1):c.1341G>A (p.Leu447=) rs61734562 0.00456
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_000180.4(GUCY2D):c.1566+17G>A rs140657975 0.00357
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_004744.5(LRAT):c.*2741_*2743dup rs528370871 0.00287
NM_201253.3(CRB1):c.1470C>T (p.Gly490=) rs35193230 0.00265
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe) rs557108466 0.00228
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_004744.5(LRAT):c.*3T>G rs200942685 0.00202
NM_000180.4(GUCY2D):c.2917G>T (p.Val973Leu) rs181567056 0.00191
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
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_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285 0.00143
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr) rs143582502 0.00134
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=) rs146849545 0.00128
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) rs151092557 0.00122
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) rs529594203 0.00117
NM_000180.4(GUCY2D):c.2155C>T (p.Leu719=) rs151106252 0.00111
NM_000180.4(GUCY2D):c.2164C>T (p.Arg722Trp) rs34331388 0.00111
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_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) rs146149224 0.00106
NM_001122769.3(LCA5):c.1579A>G (p.Ile527Val) rs75319738 0.00106
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_000180.4(GUCY2D):c.306C>G (p.Pro102=) rs540877830 0.00103
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
NM_014336.4(AIPL1):c.-107C>G rs149098937 0.00093
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_001122769.3(LCA5):c.1843A>G (p.Ser615Gly) rs143030450 0.00087
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_000329.3(RPE65):c.1244-5C>T rs202185816 0.00074
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000329.3(RPE65):c.496-4G>A rs138146176 0.00069
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
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_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682 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_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
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_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_000180.4(GUCY2D):c.3042G>A (p.Leu1014=) rs139019420 0.00050
NM_000329.3(RPE65):c.117C>T (p.Thr39=) rs143929144 0.00050
NM_001122769.3(LCA5):c.1215T>G (p.Val405=) rs41270545 0.00050
NM_000180.4(GUCY2D):c.730A>C (p.Met244Leu) rs141956583 0.00049
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_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_000180.4(GUCY2D):c.2413-14C>T rs189559705 0.00046
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
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.570C>T (p.Ser190=) rs79869437 0.00041
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_152443.3(RDH12):c.301G>A (p.Asp101Asn) rs148334092 0.00037
NM_152443.3(RDH12):c.579C>T (p.Arg193=) rs142117351 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_201253.3(CRB1):c.2976A>G (p.Ala992=) rs200379694 0.00035
NM_000180.4(GUCY2D):c.3225-10C>T rs200705417 0.00034
NM_000180.4(GUCY2D):c.2181C>A (p.Gly727=) rs140628227 0.00032
NM_000180.4(GUCY2D):c.337G>A (p.Ala113Thr) rs1445892049 0.00032
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_000180.4(GUCY2D):c.615C>A (p.Leu205=) rs568227769 0.00031
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=) rs148136213 0.00031
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_000180.4(GUCY2D):c.2769+15G>A rs377279983 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
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_000180.4(GUCY2D):c.2676C>T (p.Ile892=) rs140661218 0.00027
NM_000180.4(GUCY2D):c.1938C>T (p.Leu646=) rs201196538 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) rs62636263 0.00025
NM_000180.4(GUCY2D):c.2577-15G>A rs199708312 0.00024
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.4182G>A (p.Val1394=) rs371530941 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_000180.4(GUCY2D):c.343T>C (p.Ser115Pro) rs562248093 0.00022
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_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 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.1026+6C>T rs147410617 0.00021
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_001122769.3(LCA5):c.338A>G (p.Asn113Ser) rs181890907 0.00020
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.2302C>T (p.Arg768Trp) rs61750168 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_001122769.3(LCA5):c.1097T>C (p.Leu366Ser) rs200988021 0.00019
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449 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_000180.4(GUCY2D):c.1584A>G (p.Arg528=) rs144659131 0.00018
NM_000180.4(GUCY2D):c.488C>T (p.Pro163Leu) rs200586401 0.00018
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys) rs369902368 0.00018
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00017
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_000180.4(GUCY2D):c.3246C>T (p.Ser1082=) rs374580575 0.00016
NM_004744.5(LRAT):c.-2+7A>C rs886059161 0.00016
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 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_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_152443.3(RDH12):c.384A>G (p.Val128=) rs139881477 0.00015
NM_201253.3(CRB1):c.2538A>T (p.Gly846=) rs139040133 0.00015
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583 0.00014
NM_001080442.3(SLC38A8):c.388+5G>A rs760391436 0.00014
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=) rs183011135 0.00014
NM_001122769.3(LCA5):c.222A>T (p.Pro74=) rs148386543 0.00014
NM_001122769.3(LCA5):c.521G>A (p.Arg174His) rs144016257 0.00014
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537 0.00014
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684 0.00014
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_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
NM_000180.4(GUCY2D):c.1776G>C (p.Val592=) rs376508683 0.00013
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_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_014336.5(AIPL1):c.*153del rs886053264 0.00013
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 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_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000180.4(GUCY2D):c.2616G>A (p.Glu872=) rs369035095 0.00012
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543 0.00012
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854 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.1432C>T (p.Leu478=) rs138298187 0.00011
NM_000180.4(GUCY2D):c.2945-20G>A rs376439753 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_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 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.2714G>A (p.Arg905Gln) rs114052315 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_000180.4(GUCY2D):c.2184C>T (p.Asp728=) rs150422660 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_201253.3(CRB1):c.3171C>T (p.Asn1057=) rs62636284 0.00010
NM_000180.4(GUCY2D):c.1138C>T (p.Arg380Cys) rs775105018 0.00009
NM_000180.4(GUCY2D):c.145G>T (p.Ala49Ser) rs771232307 0.00009
NM_000180.4(GUCY2D):c.1624G>A (p.Gly542Ser) rs146570135 0.00009
NM_000180.4(GUCY2D):c.2763C>A (p.Val921=) rs776152947 0.00009
NM_000180.4(GUCY2D):c.3220C>T (p.Pro1074Ser) rs138869083 0.00009
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) rs143056561 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.4437+1G>A rs760915898 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 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_201253.3(CRB1):c.2809G>A (p.Ala937Thr) rs114630940 0.00009
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) rs587783023 0.00009
NM_000180.4(GUCY2D):c.1379-8C>T rs757158931 0.00008
NM_000180.4(GUCY2D):c.2334C>T (p.Val778=) rs371541944 0.00008
NM_000180.4(GUCY2D):c.3225-15G>A rs775550206 0.00008
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_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 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.1312C>T (p.Arg438Cys) rs565948960 0.00007
NM_000180.4(GUCY2D):c.140C>T (p.Pro47Leu) rs1014118881 0.00007
NM_000180.4(GUCY2D):c.1659T>G (p.Gly553=) rs766570845 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.3129G>A (p.Thr1043=) rs200403362 0.00007
NM_000180.4(GUCY2D):c.3274C>T (p.Arg1092Trp) rs746525316 0.00007
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378 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.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 0.00007
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) rs533227950 0.00007
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 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.1278C>T (p.Ser426=) rs746671374 0.00006
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
NM_000180.4(GUCY2D):c.1524C>T (p.Asp508=) rs200651999 0.00006
NM_000180.4(GUCY2D):c.2031A>G (p.Arg677=) rs200700723 0.00006
NM_000180.4(GUCY2D):c.2061C>T (p.His687=) rs140366544 0.00006
NM_000180.4(GUCY2D):c.2178C>T (p.Ala726=) rs377648185 0.00006
NM_000180.4(GUCY2D):c.219G>A (p.Pro73=) rs1324115702 0.00006
NM_000180.4(GUCY2D):c.2263+17C>T rs377349549 0.00006
NM_000180.4(GUCY2D):c.2331T>C (p.Pro777=) rs147201985 0.00006
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_000180.4(GUCY2D):c.912C>A (p.Ala304=) rs534270598 0.00006
NM_000329.3(RPE65):c.1086A>G (p.Gln362=) rs750890448 0.00006
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys) rs144673747 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 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_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281 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.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5227-9A>G rs571981633 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 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.6909A>C (p.Ala2303=) rs774138995 0.00006
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr) rs201382524 0.00006
NM_201253.3(CRB1):c.1014C>T (p.Ile338=) rs771549675 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.1746A>G (p.Leu582=) rs550119977 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.1134G>A (p.Val378=) rs577806343 0.00005
NM_000180.4(GUCY2D):c.1160T>A (p.Val387Asp) rs755223158 0.00005
NM_000180.4(GUCY2D):c.1323A>T (p.Ser441=) rs780550917 0.00005
NM_000180.4(GUCY2D):c.1750-15C>T rs374969713 0.00005
NM_000180.4(GUCY2D):c.1869G>A (p.Thr623=) rs150797198 0.00005
NM_000180.4(GUCY2D):c.1956+15G>A rs367711120 0.00005
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_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793 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.1984C>T (p.Gln662Ter) rs386834152 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.278T>C (p.Leu93Pro) rs527800020 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.447C>T (p.His149=) rs576678571 0.00005
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) rs148240351 0.00005
NC_000017.11:g.8002596T>C rs774980016 0.00004
NM_000180.4(GUCY2D):c.1220C>T (p.Thr407Met) rs377650196 0.00004
NM_000180.4(GUCY2D):c.1227G>A (p.Ala409=) rs148448937 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.1463+20A>G rs371533971 0.00004
NM_000180.4(GUCY2D):c.1536T>C (p.Phe512=) rs376601845 0.00004
NM_000180.4(GUCY2D):c.1773C>T (p.Asn591=) rs758841128 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.1983C>T (p.Gly661=) rs756393266 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.2271G>A (p.Val757=) rs143607596 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.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000180.4(GUCY2D):c.3102C>T (p.Gly1034=) rs749621660 0.00004
NM_000180.4(GUCY2D):c.3195C>G (p.Pro1065=) rs765119055 0.00004
NM_000180.4(GUCY2D):c.3282G>A (p.Leu1094=) rs281865413 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.885C>T (p.Leu295=) rs746924059 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.131G>A (p.Arg44Gln) rs61751282 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_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000329.3(RPE65):c.75G>A (p.Pro25=) rs199529021 0.00004
NM_000329.3(RPE65):c.94+10G>A rs777879312 0.00004
NM_000329.3(RPE65):c.942C>T (p.His314=) rs752875512 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_020366.4(RPGRIP1):c.1468-2A>G rs751342895 0.00004
NM_025114.4(CEP290):c.1712-3T>C rs376688469 0.00004
NM_025114.4(CEP290):c.1905T>C (p.Asn635=) rs778341097 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.2244T>C (p.Ser748=) rs979564116 0.00004
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp) rs372321551 0.00004
NM_025114.4(CEP290):c.288T>C (p.Asn96=) rs367691481 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.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 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.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152443.3(RDH12):c.320C>A (p.Ala107Asp) rs775717423 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 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.2688T>A (p.Cys896Ter) rs62636273 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.1180C>T (p.Leu394=) rs1207668008 0.00003
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.1824G>A (p.Ala608=) rs765774591 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.24G>T (p.Ala8=) rs987666168 0.00003
NM_000180.4(GUCY2D):c.2551C>T (p.Arg851Trp) rs571236000 0.00003
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_000180.4(GUCY2D):c.2770-7C>T rs745761477 0.00003
NM_000180.4(GUCY2D):c.3006G>A (p.Thr1002=) rs764749298 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.483G>A (p.Thr161=) rs762618243 0.00003
NM_000180.4(GUCY2D):c.510T>C (p.Asp170=) rs753886745 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_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673 0.00003
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000329.3(RPE65):c.524A>G (p.Asn175Ser) rs771863086 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_001122769.3(LCA5):c.*35del rs747368961 0.00003
NM_001122769.3(LCA5):c.1099-9G>A rs546754454 0.00003
NM_001122769.3(LCA5):c.1668C>T (p.Tyr556=) rs376479835 0.00003
NM_001122769.3(LCA5):c.827A>G (p.Lys276Arg) rs368131181 0.00003
NM_001122769.3(LCA5):c.897T>C (p.Ser299=) rs767145624 0.00003
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln) rs1313593155 0.00003
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter) rs773968778 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.3246C>T (p.His1082=) rs539042966 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.139G>A (p.Ala47Thr) rs761231974 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_152443.3(RDH12):c.698T>A (p.Val233Asp) rs144148976 0.00003
NM_152443.3(RDH12):c.878G>C (p.Arg293Thr) rs746131696 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_201253.3(CRB1):c.2305C>T (p.Arg769Cys) rs746307301 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 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.3307G>A (p.Gly1103Arg) rs62636275 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_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_000180.4(GUCY2D):c.1021C>A (p.Gln341Lys) rs368799458 0.00002
NM_000180.4(GUCY2D):c.1044C>T (p.Gly348=) rs748665297 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.1518C>T (p.Thr506=) rs779132852 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.180C>T (p.Gly60=) rs753766842 0.00002
NM_000180.4(GUCY2D):c.1836G>A (p.Glu612=) rs1287364718 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.2034C>T (p.Phe678=) rs776298636 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.2113+9C>G rs201717870 0.00002
NM_000180.4(GUCY2D):c.2172G>A (p.Thr724=) rs760472338 0.00002
NM_000180.4(GUCY2D):c.218C>A (p.Pro73Gln) rs750153057 0.00002
NM_000180.4(GUCY2D):c.2250G>A (p.Glu750=) rs149560134 0.00002
NM_000180.4(GUCY2D):c.2263+18G>A rs547968529 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.2457G>C (p.Ser819=) rs149866657 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.2601G>C (p.Thr867=) rs760202269 0.00002
NM_000180.4(GUCY2D):c.2664C>T (p.Gly888=) rs764336613 0.00002
NM_000180.4(GUCY2D):c.2743A>G (p.Ile915Val) rs1189392055 0.00002
NM_000180.4(GUCY2D):c.2787C>T (p.Asp929=) rs746827007 0.00002
NM_000180.4(GUCY2D):c.2802C>T (p.Ala934=) rs1346164552 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.3051C>G (p.Arg1017=) rs143761257 0.00002
NM_000180.4(GUCY2D):c.3224+10C>T rs778736663 0.00002
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter) rs769818541 0.00002
NM_000180.4(GUCY2D):c.3273A>G (p.Arg1091=) rs375105072 0.00002
NM_000180.4(GUCY2D):c.429C>T (p.Ala143=) rs941216139 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.57C>G (p.Pro19=) rs1296984909 0.00002
NM_000180.4(GUCY2D):c.751C>T (p.Leu251=) rs753468278 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000180.4(GUCY2D):c.999G>A (p.Glu333=) rs779241028 0.00002
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744 0.00002
NM_000329.3(RPE65):c.1243+10T>C rs548537552 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586 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_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 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_014336.5(AIPL1):c.421C>T (p.Gln141Ter) rs200125117 0.00002
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00002
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys) rs565837539 0.00002
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 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.367C>T (p.Gln123Ter) rs770126103 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.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 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.5577T>C (p.Ser1859=) rs1481341836 0.00002
NM_025114.4(CEP290):c.563A>T (p.Asp188Val) rs746511786 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 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_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440 0.00002
NM_152443.3(RDH12):c.410C>G (p.Ala137Gly) rs779597637 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_152443.3(RDH12):c.542G>A (p.Gly181Asp) rs374403088 0.00002
NM_152443.3(RDH12):c.621T>C (p.Asn207=) rs747183193 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.1452C>T (p.Thr484=) rs372844443 0.00002
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) rs763111500 0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 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.3676G>T (p.Gly1226Ter) rs757740068 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.1026+15G>A rs556242786 0.00001
NM_000180.4(GUCY2D):c.102C>T (p.Pro34=) rs1262337868 0.00001
NM_000180.4(GUCY2D):c.1037T>A (p.Leu346His) rs1372180006 0.00001
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000180.4(GUCY2D):c.1099G>A (p.Ala367Thr) rs754954638 0.00001
NM_000180.4(GUCY2D):c.1146C>T (p.Ile382=) rs776042543 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.1149G>C (p.Arg383=) rs1975741252 0.00001
NM_000180.4(GUCY2D):c.1154C>T (p.Ala385Val) rs1301307214 0.00001
NM_000180.4(GUCY2D):c.1224C>T (p.Asp408=) rs201054971 0.00001
NM_000180.4(GUCY2D):c.1225G>A (p.Ala409Thr) rs144565168 0.00001
NM_000180.4(GUCY2D):c.1230G>A (p.Ala410=) rs542570988 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.1317G>A (p.Gly439=) rs56056557 0.00001
NM_000180.4(GUCY2D):c.1329C>T (p.Pro443=) rs1292562609 0.00001
NM_000180.4(GUCY2D):c.1339C>T (p.Pro447Ser) rs1029006549 0.00001
NM_000180.4(GUCY2D):c.1368C>T (p.Ile456=) rs1288235406 0.00001
NM_000180.4(GUCY2D):c.1378+12C>T rs759370090 0.00001
NM_000180.4(GUCY2D):c.1378+16C>G rs963135195 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.1440G>A (p.Gly480=) rs1445195113 0.00001
NM_000180.4(GUCY2D):c.1449G>A (p.Leu483=) rs141346556 0.00001
NM_000180.4(GUCY2D):c.1463+15G>T rs753328828 0.00001
NM_000180.4(GUCY2D):c.1494C>T (p.Ser498=) rs369663256 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.1561C>T (p.Arg521Ter) rs748798324 0.00001
NM_000180.4(GUCY2D):c.1562G>A (p.Arg521Gln) rs751520851 0.00001
NM_000180.4(GUCY2D):c.1566+1G>A rs1348467293 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.1633C>T (p.Gln545Ter) rs1290420698 0.00001
NM_000180.4(GUCY2D):c.1645A>G (p.Ser549Gly) rs1243599161 0.00001
NM_000180.4(GUCY2D):c.165G>T (p.Thr55=) rs1225559381 0.00001
NM_000180.4(GUCY2D):c.1669-14C>G rs761529451 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.1719C>A (p.Ile573=) rs377287956 0.00001
NM_000180.4(GUCY2D):c.1749+11G>A rs759723474 0.00001
NM_000180.4(GUCY2D):c.1750-7C>G rs918147589 0.00001
NM_000180.4(GUCY2D):c.1750-8C>G rs760765585 0.00001
NM_000180.4(GUCY2D):c.1763G>A (p.Arg588Gln) rs1380583409 0.00001
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=) rs754581545 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.1893C>T (p.Leu631=) rs763522643 0.00001
NM_000180.4(GUCY2D):c.1956+9C>T rs1975869254 0.00001
NM_000180.4(GUCY2D):c.1958G>A (p.Gly653Glu) rs139168077 0.00001
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161 0.00001
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp) rs757387072 0.00001
NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp) rs931906767 0.00001
NM_000180.4(GUCY2D):c.2046C>T (p.Ile682=) rs772640099 0.00001
NM_000180.4(GUCY2D):c.2055C>T (p.His685=) rs762943482 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.2094G>A (p.Pro698=) rs747807494 0.00001
NM_000180.4(GUCY2D):c.2114-9C>T rs908880265 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.2247G>A (p.Leu749=) rs746893543 0.00001
NM_000180.4(GUCY2D):c.2262G>A (p.Glu754=) rs1975893237 0.00001
NM_000180.4(GUCY2D):c.2264-16C>A rs747899948 0.00001
NM_000180.4(GUCY2D):c.2268G>C (p.Val756=) rs746058533 0.00001
NM_000180.4(GUCY2D):c.2282G>A (p.Arg761Gln) rs764439180 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 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.2383C>T (p.Arg795Trp) rs765910207 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2387C>T (p.Pro796Leu) rs1304876088 0.00001
NM_000180.4(GUCY2D):c.240C>A (p.Ala80=) rs979318508 0.00001
NM_000180.4(GUCY2D):c.2412+10T>C rs1446169314 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.2496G>A (p.Glu832=) rs1430681738 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.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met) rs61750174 0.00001
NM_000180.4(GUCY2D):c.255C>T (p.Asn85=) rs1481027097 0.00001
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778 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.2598G>C (p.Lys866Asn) rs201587670 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.2682C>T (p.Ala894=) rs765266637 0.00001
NM_000180.4(GUCY2D):c.2683A>G (p.Met895Val) rs1180472258 0.00001
NM_000180.4(GUCY2D):c.270G>A (p.Leu90=) rs1411984596 0.00001
NM_000180.4(GUCY2D):c.2718C>T (p.Asn906=) rs1299729703 0.00001
NM_000180.4(GUCY2D):c.276C>T (p.Gly92=) rs1180162649 0.00001
NM_000180.4(GUCY2D):c.277G>A (p.Gly93Ser) rs749432012 0.00001
NM_000180.4(GUCY2D):c.2784G>C (p.Gly928=) rs763444638 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.2811G>A (p.Leu937=) rs759949982 0.00001
NM_000180.4(GUCY2D):c.2838G>A (p.Ala946=) rs143730352 0.00001
NM_000180.4(GUCY2D):c.2850C>A (p.Ala950=) rs750005559 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.2892C>G (p.Arg964=) rs151052136 0.00001
NM_000180.4(GUCY2D):c.2928C>T (p.Arg976=) rs761309365 0.00001
NM_000180.4(GUCY2D):c.2944+15T>G rs995953710 0.00001
NM_000180.4(GUCY2D):c.2944+18C>T rs553072849 0.00001
NM_000180.4(GUCY2D):c.2944+9C>T rs1309171387 0.00001
NM_000180.4(GUCY2D):c.2945-14C>T rs541055967 0.00001
NM_000180.4(GUCY2D):c.2945-18C>G rs573455326 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.3012C>T (p.Asn1004=) rs563005151 0.00001
NM_000180.4(GUCY2D):c.3036C>T (p.Thr1012=) rs376759049 0.00001
NM_000180.4(GUCY2D):c.3043+14G>A rs1178871111 0.00001
NM_000180.4(GUCY2D):c.3065T>G (p.Leu1022Trp) rs866511152 0.00001
NM_000180.4(GUCY2D):c.3084C>G (p.Leu1028=) rs755088085 0.00001
NM_000180.4(GUCY2D):c.3138+6G>T rs937146348 0.00001
NM_000180.4(GUCY2D):c.3139-6C>A rs745511852 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.3224+1G>C rs757823463 0.00001
NM_000180.4(GUCY2D):c.3229A>G (p.Ser1077Gly) rs1249600456 0.00001
NM_000180.4(GUCY2D):c.3237C>T (p.His1079=) rs529348303 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.3291G>A (p.Ala1097=) rs1490101887 0.00001
NM_000180.4(GUCY2D):c.358C>T (p.Arg120Cys) rs1975671628 0.00001
NM_000180.4(GUCY2D):c.363G>A (p.Val121=) rs917247032 0.00001
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000180.4(GUCY2D):c.381G>A (p.Pro127=) rs1400180995 0.00001
NM_000180.4(GUCY2D):c.393G>A (p.Ala131=) rs1431229289 0.00001
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile) rs281865409 0.00001
NM_000180.4(GUCY2D):c.435C>A (p.Ile145=) rs904414208 0.00001
NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter) rs1403798841 0.00001
NM_000180.4(GUCY2D):c.54T>G (p.Gly18=) rs9905393 0.00001
NM_000180.4(GUCY2D):c.603G>C (p.Leu201=) rs369547545 0.00001
NM_000180.4(GUCY2D):c.621C>T (p.Ala207=) rs757257247 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.65G>A (p.Trp22Ter) rs1308509257 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.722-12C>T rs760426420 0.00001
NM_000180.4(GUCY2D):c.722-17C>A rs1598144504 0.00001
NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu) rs138922415 0.00001
NM_000180.4(GUCY2D):c.750G>A (p.Leu250=) rs777436847 0.00001
NM_000180.4(GUCY2D):c.777C>A (p.Leu259=) rs778378811 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.81C>T (p.Pro27=) rs1361790718 0.00001
NM_000180.4(GUCY2D):c.866C>T (p.Pro289Leu) rs1350341897 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.1034A>G (p.Asn345Ser) rs769440649 0.00001
NM_000329.3(RPE65):c.11+2T>G rs778768116 0.00001
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala) rs62636297 0.00001
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298 0.00001
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe) rs750724065 0.00001
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val) rs62653015 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.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 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.886A>C (p.Arg296=) rs1399365841 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 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_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
NM_001023570.4(IQCB1):c.812del (p.Ser271fs) rs748559081 0.00001
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter) rs781035395 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_001122769.3(LCA5):c.955G>A (p.Ala319Thr) rs1178243254 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg) rs886037840 0.00001
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp) rs1250097723 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_003322.6(TULP1):c.931C>T (p.Arg311Trp) rs373519519 0.00001
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly) rs527236079 0.00001
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) rs775838916 0.00001
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) rs768255532 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter) rs2077134911 0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568 0.00001
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354 0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T rs748072501 0.00001
NM_020366.4(RPGRIP1):c.564A>G (p.Glu188=) rs574462207 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln) rs758239674 0.00001
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) rs768528387 0.00001
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr) rs1553128102 0.00001
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs) rs775978677 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.1627G>T (p.Glu543Ter) rs1186821575 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr) rs776346956 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 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.297+1G>T rs878853360 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.3185del (p.Leu1062fs) rs863225189 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 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.3802C>T (p.Gln1268Ter) rs1468942944 0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter) rs1412133967 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.4705-1G>T rs777464278 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.5012+2T>C rs1369768287 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.5259A>C (p.Ala1753=) rs747328752 0.00001
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=) rs1452561924 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.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.6012-2A>G rs555755221 0.00001
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His) rs745998591 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr) rs527704077 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 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.6642A>G (p.Lys2214=) rs1409872235 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.210dup (p.Arg71fs) rs797044761 0.00001
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) rs368489658 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.316C>T (p.Arg106Ter) rs752242512 0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574 0.00001
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile) rs1206574200 0.00001
NM_152443.3(RDH12):c.437T>A (p.Val146Asp) rs116649873 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 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.582C>G (p.Tyr194Ter) rs753074829 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.1206T>C (p.Ser402=) rs373229699 0.00001
NM_201253.3(CRB1):c.1479C>T (p.Phe493=) rs770919155 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 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.1752C>T (p.Asp584=) rs750442312 0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile) rs1450290360 0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_201253.3(CRB1):c.1977G>A (p.Ser659=) rs1457627160 0.00001
NM_201253.3(CRB1):c.1995T>C (p.Asn665=) rs774597710 0.00001
NM_201253.3(CRB1):c.207C>T (p.Asn69=) rs1302750453 0.00001
NM_201253.3(CRB1):c.2286T>C (p.Tyr762=) rs1192399919 0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro) rs1451348539 0.00001
NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser) rs767723282 0.00001
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271 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.2823G>A (p.Pro941=) rs62645757 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.3042T>C (p.Ser1014=) rs374426440 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.763C>T (p.Leu255=) rs1659649148 0.00001
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg) rs1412048468 0.00001
NM_201253.3(CRB1):c.957T>C (p.Ser319=) rs765228022 0.00001
NM_201253.3(CRB1):c.976C>T (p.His326Tyr) rs773386179 0.00001
NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del
NC_000017.10:g.(?_7846709)_(8000124_?)dup
NC_000017.10:g.(?_7906366)_(7912924_?)del
NC_000017.10:g.(?_7906366)_(8027402_?)dup
NC_000017.11:g.(?_8002902)_(8016550_?)del
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.-2_3del (p.Met1fs) rs1451359371
NM_000180.4(GUCY2D):c.1000C>T (p.Leu334=)
NM_000180.4(GUCY2D):c.1005C>T (p.Pro335=)
NM_000180.4(GUCY2D):c.1008_1014del (p.Asp337fs)
NM_000180.4(GUCY2D):c.1009G>A (p.Asp337Asn)
NM_000180.4(GUCY2D):c.1012C>G (p.Leu338Val) rs2151799779
NM_000180.4(GUCY2D):c.1012del (p.Leu338fs)
NM_000180.4(GUCY2D):c.1018C>G (p.Leu340Val)
NM_000180.4(GUCY2D):c.1026+11C>G
NM_000180.4(GUCY2D):c.1026+11C>T
NM_000180.4(GUCY2D):c.1026+12C>T
NM_000180.4(GUCY2D):c.1026+13G>A rs769017393
NM_000180.4(GUCY2D):c.1026+13G>C
NM_000180.4(GUCY2D):c.1026+20G>A
NM_000180.4(GUCY2D):c.1026+2T>C
NM_000180.4(GUCY2D):c.1026+7G>A
NM_000180.4(GUCY2D):c.1026+9T>C rs1975697140
NM_000180.4(GUCY2D):c.1027-12C>G
NM_000180.4(GUCY2D):c.1027-5T>A
NM_000180.4(GUCY2D):c.1027-7T>G rs780368194
NM_000180.4(GUCY2D):c.1027-7_1027-5del rs760494327
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.1040_1041del (p.Phe347fs) rs763890649
NM_000180.4(GUCY2D):c.104G>T (p.Arg35Leu) rs748156659
NM_000180.4(GUCY2D):c.1056C>T (p.Asp352=)
NM_000180.4(GUCY2D):c.1059G>A (p.Ala353=)
NM_000180.4(GUCY2D):c.105G>A (p.Arg35=)
NM_000180.4(GUCY2D):c.1060G>A (p.Val354Ile) rs758931689
NM_000180.4(GUCY2D):c.1069C>T (p.Leu357=)
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.1089_1113del (p.Glu363fs)
NM_000180.4(GUCY2D):c.1092G>A (p.Ala364=)
NM_000180.4(GUCY2D):c.1092G>T (p.Ala364=)
NM_000180.4(GUCY2D):c.1094G>A (p.Arg365Gln) rs141917297
NM_000180.4(GUCY2D):c.1101C>A (p.Ala367=)
NM_000180.4(GUCY2D):c.1101C>T (p.Ala367=)
NM_000180.4(GUCY2D):c.110C>G (p.Pro37Arg)
NM_000180.4(GUCY2D):c.1116G>A (p.Trp372Ter)
NM_000180.4(GUCY2D):c.1116_1119dup (p.Ser374fs)
NM_000180.4(GUCY2D):c.111G>A (p.Pro37=)
NM_000180.4(GUCY2D):c.1120T>G (p.Ser374Ala) rs749607771
NM_000180.4(GUCY2D):c.1122C>T (p.Ser374=)
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.1147C>A (p.Arg383=)
NM_000180.4(GUCY2D):c.1148G>T (p.Arg383Leu)
NM_000180.4(GUCY2D):c.1149_1155del (p.Asp384fs)
NM_000180.4(GUCY2D):c.1150del (p.Asp384fs)
NM_000180.4(GUCY2D):c.1155G>A (p.Ala385=) rs149722832
NM_000180.4(GUCY2D):c.1155G>T (p.Ala385=)
NM_000180.4(GUCY2D):c.1173C>T (p.Cys391=)
NM_000180.4(GUCY2D):c.1176G>C (p.Gly392=)
NM_000180.4(GUCY2D):c.1183G>A (p.Gly395Arg)
NM_000180.4(GUCY2D):c.1191C>T (p.Asp397=)
NM_000180.4(GUCY2D):c.1192G>A (p.Glu398Lys)
NM_000180.4(GUCY2D):c.11G>A (p.Cys4Tyr)
NM_000180.4(GUCY2D):c.1210C>G (p.Leu404Val)
NM_000180.4(GUCY2D):c.1211T>C (p.Leu404Pro) rs1975743813
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.1221G>A (p.Thr407=)
NM_000180.4(GUCY2D):c.1229C>G (p.Ala410Gly)
NM_000180.4(GUCY2D):c.1229C>T (p.Ala410Val) rs773030462
NM_000180.4(GUCY2D):c.1230G>T (p.Ala410=)
NM_000180.4(GUCY2D):c.1234G>A (p.Asp412Asn)
NM_000180.4(GUCY2D):c.1238G>A (p.Arg413Gln) rs1253086014
NM_000180.4(GUCY2D):c.1242T>C (p.Leu414=)
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs) rs1598146173
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.1269C>T (p.Ala423=)
NM_000180.4(GUCY2D):c.126G>T (p.Leu42=)
NM_000180.4(GUCY2D):c.1270C>T (p.Arg424Trp)
NM_000180.4(GUCY2D):c.1275C>A (p.Gly425=) rs779783880
NM_000180.4(GUCY2D):c.1284C>A (p.Leu428=)
NM_000180.4(GUCY2D):c.1284C>T (p.Leu428=) rs769023061
NM_000180.4(GUCY2D):c.1287C>T (p.Ser429=) rs532466020
NM_000180.4(GUCY2D):c.1290C>A (p.Ala430=) rs141967896
NM_000180.4(GUCY2D):c.1290C>T (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.129T>C (p.Leu43=)
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1305C>T (p.His435=) rs770719238
NM_000180.4(GUCY2D):c.1311G>A (p.Pro437=)
NM_000180.4(GUCY2D):c.1311G>C (p.Pro437=)
NM_000180.4(GUCY2D):c.1315G>C (p.Gly439Arg)
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.1320A>G (p.Gly440=) rs2151800598
NM_000180.4(GUCY2D):c.132G>A (p.Leu44=) rs1385302975
NM_000180.4(GUCY2D):c.1335T>C (p.Pro445=)
NM_000180.4(GUCY2D):c.1340C>T (p.Pro447Leu)
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1343C>T (p.Ser448Leu) rs61749679
NM_000180.4(GUCY2D):c.1344G>A (p.Ser448=)
NM_000180.4(GUCY2D):c.1344G>T (p.Ser448=)
NM_000180.4(GUCY2D):c.1347C>T (p.Cys449=)
NM_000180.4(GUCY2D):c.1354G>C (p.Asp452His)
NM_000180.4(GUCY2D):c.1356T>G (p.Asp452Glu)
NM_000180.4(GUCY2D):c.1359A>G (p.Pro453=)
NM_000180.4(GUCY2D):c.1361_1367del (p.Asn454fs) rs2151800620
NM_000180.4(GUCY2D):c.1365C>T (p.Asn455=)
NM_000180.4(GUCY2D):c.1371C>A (p.Cys457Ter)
NM_000180.4(GUCY2D):c.1376G>A (p.Gly459Glu)
NM_000180.4(GUCY2D):c.1377_1378del (p.Gly460fs)
NM_000180.4(GUCY2D):c.1378+14C>T
NM_000180.4(GUCY2D):c.1378+15C>A
NM_000180.4(GUCY2D):c.1378+19G>C
NM_000180.4(GUCY2D):c.1378+1G>A rs1975751307
NM_000180.4(GUCY2D):c.1378+20del
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>A rs1457493139
NM_000180.4(GUCY2D):c.1378+8C>G
NM_000180.4(GUCY2D):c.1378+8C>T rs1457493139
NM_000180.4(GUCY2D):c.1378+9G>T rs1333086687
NM_000180.4(GUCY2D):c.1379-16G>A
NM_000180.4(GUCY2D):c.1379-16G>T
NM_000180.4(GUCY2D):c.1379-17T>C
NM_000180.4(GUCY2D):c.1379-19C>T
NM_000180.4(GUCY2D):c.1379-20T>G
NM_000180.4(GUCY2D):c.1379-5T>C
NM_000180.4(GUCY2D):c.1379-6C>T
NM_000180.4(GUCY2D):c.1389G>A (p.Pro463=)
NM_000180.4(GUCY2D):c.1391del (p.Gly464fs) rs1567958644
NM_000180.4(GUCY2D):c.1394T>G (p.Leu465Arg)
NM_000180.4(GUCY2D):c.1395C>T (p.Leu465=)
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.1416G>C (p.Leu472=)
NM_000180.4(GUCY2D):c.141C>G (p.Pro47=) rs1482857964
NM_000180.4(GUCY2D):c.1420G>A (p.Val474Ile)
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.1446C>T (p.Phe482=)
NM_000180.4(GUCY2D):c.144C>G (p.Pro48=)
NM_000180.4(GUCY2D):c.144C>T (p.Pro48=)
NM_000180.4(GUCY2D):c.144del (p.Ala49fs) rs1567956946
NM_000180.4(GUCY2D):c.144dup (p.Ala49fs)
NM_000180.4(GUCY2D):c.1457A>G (p.Tyr486Cys)
NM_000180.4(GUCY2D):c.1458T>C (p.Tyr486=)
NM_000180.4(GUCY2D):c.145G>A (p.Ala49Thr)
NM_000180.4(GUCY2D):c.1463+16A>G
NM_000180.4(GUCY2D):c.1463+17G>A
NM_000180.4(GUCY2D):c.1463+8G>C
NM_000180.4(GUCY2D):c.1464-14T>G
NM_000180.4(GUCY2D):c.1464-15del rs761213112
NM_000180.4(GUCY2D):c.1464-19T>C
NM_000180.4(GUCY2D):c.1464-3C>G
NM_000180.4(GUCY2D):c.1464-4C>T
NM_000180.4(GUCY2D):c.1464-6C>T
NM_000180.4(GUCY2D):c.1464-7C>T
NM_000180.4(GUCY2D):c.1464-8T>C
NM_000180.4(GUCY2D):c.1472T>C (p.Leu491Pro)
NM_000180.4(GUCY2D):c.1479C>T (p.His493=) rs377622295
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.1497C>T (p.Gly499=)
NM_000180.4(GUCY2D):c.1501A>G (p.Asn501Asp) rs1975767998
NM_000180.4(GUCY2D):c.1503C>T (p.Asn501=)
NM_000180.4(GUCY2D):c.1506G>A (p.Lys502=)
NM_000180.4(GUCY2D):c.1517C>G (p.Thr506Ser)
NM_000180.4(GUCY2D):c.1518C>A (p.Thr506=)
NM_000180.4(GUCY2D):c.1522GAC[1] (p.Asp509del) rs879629840
NM_000180.4(GUCY2D):c.1527C>T (p.Asp509=)
NM_000180.4(GUCY2D):c.1530del (p.Thr511fs) rs1975768901
NM_000180.4(GUCY2D):c.1542C>T (p.His514=)
NM_000180.4(GUCY2D):c.1544C>T (p.Pro515Leu) rs1975769511
NM_000180.4(GUCY2D):c.1556C>T (p.Thr519Ile) rs549834851
NM_000180.4(GUCY2D):c.1557C>T (p.Thr519=) rs1975769915
NM_000180.4(GUCY2D):c.1560T>C (p.Ser520=)
NM_000180.4(GUCY2D):c.1566+12A>C
NM_000180.4(GUCY2D):c.1566+12AG[2]
NM_000180.4(GUCY2D):c.1566+2T>C rs61749683
NM_000180.4(GUCY2D):c.1566+7G>A
NM_000180.4(GUCY2D):c.1567-13C>T
NM_000180.4(GUCY2D):c.1567-1G>C rs2151801050
NM_000180.4(GUCY2D):c.1567-20C>T
NM_000180.4(GUCY2D):c.1567-9A>G
NM_000180.4(GUCY2D):c.1572C>T (p.Ala524=)
NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter) rs1168076308
NM_000180.4(GUCY2D):c.1576G>A (p.Gly526Arg) rs1975777337
NM_000180.4(GUCY2D):c.1580G>A (p.Ser527Asn)
NM_000180.4(GUCY2D):c.1581T>C (p.Ser527=)
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter) rs1349155167
NM_000180.4(GUCY2D):c.1593G>A (p.Leu531=)
NM_000180.4(GUCY2D):c.1595G>C (p.Gly532Ala)
NM_000180.4(GUCY2D):c.159G>A (p.Val53=)
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.1620C>T (p.Arg540=)
NM_000180.4(GUCY2D):c.1626C>G (p.Gly542=)
NM_000180.4(GUCY2D):c.1626C>T (p.Gly542=)
NM_000180.4(GUCY2D):c.1627C>T (p.Pro543Ser)
NM_000180.4(GUCY2D):c.1647C>A (p.Ser549Arg)
NM_000180.4(GUCY2D):c.165G>A (p.Thr55=)
NM_000180.4(GUCY2D):c.1660G>A (p.Val554Ile) rs1975779836
NM_000180.4(GUCY2D):c.1668+11C>A
NM_000180.4(GUCY2D):c.1668+17C>A
NM_000180.4(GUCY2D):c.1668+17C>T
NM_000180.4(GUCY2D):c.1668+22_1668+25del
NM_000180.4(GUCY2D):c.1668+4A>T
NM_000180.4(GUCY2D):c.1669-13C>A
NM_000180.4(GUCY2D):c.1669-13C>T
NM_000180.4(GUCY2D):c.1669-14C>A
NM_000180.4(GUCY2D):c.1669-15T>A
NM_000180.4(GUCY2D):c.1669-17C>T
NM_000180.4(GUCY2D):c.1669-18C>A
NM_000180.4(GUCY2D):c.1669-18C>G
NM_000180.4(GUCY2D):c.1669-19C>G
NM_000180.4(GUCY2D):c.1669-5T>C
NM_000180.4(GUCY2D):c.1669-9_1669-8del rs757259115
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.4(GUCY2D):c.169G>C (p.Gly57Arg)
NM_000180.4(GUCY2D):c.16_19del (p.Arg6fs)
NM_000180.4(GUCY2D):c.1714G>C (p.Ala572Pro)
NM_000180.4(GUCY2D):c.1728A>G (p.Ala576=)
NM_000180.4(GUCY2D):c.1731C>A (p.Thr577=)
NM_000180.4(GUCY2D):c.1737G>A (p.Thr579=) rs761631031
NM_000180.4(GUCY2D):c.1748A>C (p.Lys583Thr)
NM_000180.4(GUCY2D):c.1749+14C>T rs2151801565
NM_000180.4(GUCY2D):c.1749+16G>A
NM_000180.4(GUCY2D):c.1749+1G>A rs2151801563
NM_000180.4(GUCY2D):c.1749G>C (p.Lys583Asn)
NM_000180.4(GUCY2D):c.174C>T (p.Val58=)
NM_000180.4(GUCY2D):c.1750-12_1752del
NM_000180.4(GUCY2D):c.1750-12dup
NM_000180.4(GUCY2D):c.1750-16A>G rs772221900
NM_000180.4(GUCY2D):c.1750-16A>T
NM_000180.4(GUCY2D):c.1750-5C>T rs2151802315
NM_000180.4(GUCY2D):c.1750-6T>C
NM_000180.4(GUCY2D):c.1752C>A (p.Leu584=)
NM_000180.4(GUCY2D):c.1753C>T (p.Gln585Ter)
NM_000180.4(GUCY2D):c.1759C>G (p.Leu587Val)
NM_000180.4(GUCY2D):c.1759C>T (p.Leu587Phe)
NM_000180.4(GUCY2D):c.175del (p.Leu59fs) rs2151799287
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1766A>G (p.His589Arg) rs2151802328
NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs) rs1975665345
NM_000180.4(GUCY2D):c.1770G>T (p.Glu590Asp)
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp) rs1975862803
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) rs794727952
NM_000180.4(GUCY2D):c.1774G>A (p.Val592Met) rs373362030
NM_000180.4(GUCY2D):c.1779C>T (p.Ala593=)
NM_000180.4(GUCY2D):c.177G>T (p.Leu59=)
NM_000180.4(GUCY2D):c.1780C>T (p.Leu594Phe)
NM_000180.4(GUCY2D):c.1780_1783del (p.Leu594fs)
NM_000180.4(GUCY2D):c.1781T>A (p.Leu594His)
NM_000180.4(GUCY2D):c.1784_1787del (p.Tyr595fs)
NM_000180.4(GUCY2D):c.1787T>A (p.Leu596Gln)
NM_000180.4(GUCY2D):c.1791G>A (p.Gly597=)
NM_000180.4(GUCY2D):c.1802C>T (p.Ala601Val)
NM_000180.4(GUCY2D):c.1804C>A (p.Arg602=)
NM_000180.4(GUCY2D):c.1804C>T (p.Arg602Trp) rs770740012
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs) rs63749078
NM_000180.4(GUCY2D):c.1817G>A (p.Gly606Asp) rs1451847992
NM_000180.4(GUCY2D):c.1821_1824dup (p.Ala609fs)
NM_000180.4(GUCY2D):c.1825G>A (p.Ala609Thr) rs1009884304
NM_000180.4(GUCY2D):c.1827C>T (p.Ala609=)
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.1842C>T (p.Asn614=)
NM_000180.4(GUCY2D):c.1843C>G (p.Leu615Val)
NM_000180.4(GUCY2D):c.1847C>T (p.Ala616Val)
NM_000180.4(GUCY2D):c.1854C>T (p.Val618=) rs2151802387
NM_000180.4(GUCY2D):c.185G>A (p.Trp62Ter)
NM_000180.4(GUCY2D):c.1863C>T (p.His621=)
NM_000180.4(GUCY2D):c.1865G>T (p.Cys622Phe)
NM_000180.4(GUCY2D):c.1868C>G (p.Thr623Arg)
NM_000180.4(GUCY2D):c.186G>A (p.Trp62Ter)
NM_000180.4(GUCY2D):c.1893C>A (p.Leu631=) rs763522643
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.1924T>G (p.Phe642Val) rs1975868246
NM_000180.4(GUCY2D):c.1935C>T (p.Ser645=)
NM_000180.4(GUCY2D):c.1937T>C (p.Leu646Pro) rs1975868606
NM_000180.4(GUCY2D):c.1943T>C (p.Leu648Pro) rs1975868797
NM_000180.4(GUCY2D):c.1947C>T (p.Asp649=)
NM_000180.4(GUCY2D):c.1953C>T (p.Ile651=)
NM_000180.4(GUCY2D):c.1956+11G>A
NM_000180.4(GUCY2D):c.1956+11G>C
NM_000180.4(GUCY2D):c.1956+13G>A
NM_000180.4(GUCY2D):c.1956+14G>T
NM_000180.4(GUCY2D):c.1956+15del
NM_000180.4(GUCY2D):c.1956+19T>G
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000180.4(GUCY2D):c.1956+7G>A
NM_000180.4(GUCY2D):c.1957-11C>T
NM_000180.4(GUCY2D):c.1957-17A>G
NM_000180.4(GUCY2D):c.1957-1G>T rs61749759
NM_000180.4(GUCY2D):c.1957-2A>G rs945734402
NM_000180.4(GUCY2D):c.1957-7T>C
NM_000180.4(GUCY2D):c.1957-9C>A
NM_000180.4(GUCY2D):c.1957-9C>G
NM_000180.4(GUCY2D):c.195C>T (p.Asp65=)
NM_000180.4(GUCY2D):c.1960A>C (p.Ile654Leu)
NM_000180.4(GUCY2D):c.1976A>G (p.His659Arg)
NM_000180.4(GUCY2D):c.1977T>C (p.His659=)
NM_000180.4(GUCY2D):c.1978C>G (p.Arg660Gly) rs61750161
NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln) rs1598149187
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val) rs1424348888
NM_000180.4(GUCY2D):c.2006C>G (p.Ser669Ter) rs2151802518
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.2067A>G (p.Arg689=)
NM_000180.4(GUCY2D):c.2073G>A (p.Leu691=)
NM_000180.4(GUCY2D):c.2076A>G (p.Glu692=)
NM_000180.4(GUCY2D):c.207T>C (p.Ser69=)
NM_000180.4(GUCY2D):c.207T>G (p.Ser69=)
NM_000180.4(GUCY2D):c.2080C>T (p.Gln694Ter)
NM_000180.4(GUCY2D):c.2082G>A (p.Gln694=)
NM_000180.4(GUCY2D):c.2093C>G (p.Pro698Arg) rs200128473
NM_000180.4(GUCY2D):c.209G>C (p.Arg70Pro)
NM_000180.4(GUCY2D):c.2103C>T (p.Pro701=)
NM_000180.4(GUCY2D):c.2107G>A (p.Ala703Thr) rs1270111845
NM_000180.4(GUCY2D):c.2112G>A (p.Glu704=)
NM_000180.4(GUCY2D):c.2113+10C>T rs1975877852
NM_000180.4(GUCY2D):c.2113+13T>C
NM_000180.4(GUCY2D):c.2113+1G>A
NM_000180.4(GUCY2D):c.2113+9C>A rs201717870
NM_000180.4(GUCY2D):c.2113+9C>T
NM_000180.4(GUCY2D):c.2113G>T (p.Asp705Tyr) rs1434526446
NM_000180.4(GUCY2D):c.2114-14T>C
NM_000180.4(GUCY2D):c.2114-15C>T
NM_000180.4(GUCY2D):c.2114-17C>A
NM_000180.4(GUCY2D):c.2114-17C>T rs770587800
NM_000180.4(GUCY2D):c.2114-17_2114-16delinsTT rs2151802757
NM_000180.4(GUCY2D):c.2114-18C>A
NM_000180.4(GUCY2D):c.2114-27_2263+18del rs1555635550
NM_000180.4(GUCY2D):c.2114-7T>A
NM_000180.4(GUCY2D):c.2114-8A>C
NM_000180.4(GUCY2D):c.2114-8A>G
NM_000180.4(GUCY2D):c.2114-9del rs2151802761
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg) rs1064797217
NM_000180.4(GUCY2D):c.2127A>G (p.Thr709=) rs2151802773
NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val) rs781725943
NM_000180.4(GUCY2D):c.2133G>A (p.Pro711=)
NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val) rs2151802780
NM_000180.4(GUCY2D):c.2142T>G (p.Leu714=)
NM_000180.4(GUCY2D):c.2145G>A (p.Arg715=)
NM_000180.4(GUCY2D):c.2153C>G (p.Ala718Gly) rs2151802784
NM_000180.4(GUCY2D):c.2157G>A (p.Leu719=) rs2151802788
NM_000180.4(GUCY2D):c.2163C>T (p.Arg721=)
NM_000180.4(GUCY2D):c.216C>T (p.Arg72=)
NM_000180.4(GUCY2D):c.2176G>A (p.Ala726Thr) rs1459595665
NM_000180.4(GUCY2D):c.2177_2206del (p.Ala726_Met736delinsVal) rs1975890613
NM_000180.4(GUCY2D):c.2181C>T (p.Gly727=) rs140628227
NM_000180.4(GUCY2D):c.2185G>A (p.Val729Ile)
NM_000180.4(GUCY2D):c.218C>T (p.Pro73Leu) rs750153057
NM_000180.4(GUCY2D):c.2190T>A (p.Phe730Leu)
NM_000180.4(GUCY2D):c.2190T>C (p.Phe730=)
NM_000180.4(GUCY2D):c.2193C>T (p.Ser731=)
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.2209C>T (p.Gln737Ter) rs2151802829
NM_000180.4(GUCY2D):c.2210AAG[1] (p.Glu738del)
NM_000180.4(GUCY2D):c.2224C>T (p.Arg742Cys) rs532577225
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs) rs1598149659
NM_000180.4(GUCY2D):c.2238T>C (p.Tyr746=)
NM_000180.4(GUCY2D):c.2241C>T (p.Ala747=) rs2151802845
NM_000180.4(GUCY2D):c.2259C>T (p.Pro753=)
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter) rs747951577
NM_000180.4(GUCY2D):c.2263+1G>A
NM_000180.4(GUCY2D):c.2263+20G>A
NM_000180.4(GUCY2D):c.2263+2T>C rs1975893449
NM_000180.4(GUCY2D):c.2264-10A>G rs1975905316
NM_000180.4(GUCY2D):c.2264-11C>T
NM_000180.4(GUCY2D):c.2264-14C>T
NM_000180.4(GUCY2D):c.2264-18G>C
NM_000180.4(GUCY2D):c.2264-1G>A
NM_000180.4(GUCY2D):c.2264-7C>A
NM_000180.4(GUCY2D):c.2266GTG[1] (p.Val757del) rs2151803037
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs) rs281865410
NM_000180.4(GUCY2D):c.2280G>T (p.Val760=)
NM_000180.4(GUCY2D):c.2286C>T (p.Ser762=)
NM_000180.4(GUCY2D):c.228C>T (p.Ala76=) rs1309007524
NM_000180.4(GUCY2D):c.2290C>G (p.Pro764Ala)
NM_000180.4(GUCY2D):c.2290C>T (p.Pro764Ser) rs1975906957
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
NM_000180.4(GUCY2D):c.2291dup (p.Pro765fs)
NM_000180.4(GUCY2D):c.2292T>C (p.Pro764=) rs1393165151
NM_000180.4(GUCY2D):c.2301T>C (p.Cys767=) rs2151803063
NM_000180.4(GUCY2D):c.2304G>A (p.Arg768=)
NM_000180.4(GUCY2D):c.2307C>G (p.Pro769=)
NM_000180.4(GUCY2D):c.2312T>A (p.Val771Glu) rs2151803073
NM_000180.4(GUCY2D):c.2313G>A (p.Val771=)
NM_000180.4(GUCY2D):c.2323C>T (p.Gln775Ter)
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.2338T>C (p.Cys780Arg) rs1975909279
NM_000180.4(GUCY2D):c.2339G>A (p.Cys780Tyr) rs1187359735
NM_000180.4(GUCY2D):c.2343C>T (p.Ile781=)
NM_000180.4(GUCY2D):c.2345_2346delinsAT (p.Leu782His)
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.235C>T (p.Leu79=)
NM_000180.4(GUCY2D):c.2375C>T (p.Pro792Leu)
NM_000180.4(GUCY2D):c.2376G>A (p.Pro792=) rs770484034
NM_000180.4(GUCY2D):c.2376G>C (p.Pro792=) rs770484034
NM_000180.4(GUCY2D):c.2377G>A (p.Glu793Lys)
NM_000180.4(GUCY2D):c.2377del (p.Glu793fs) rs1555635668
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.2393T>G (p.Met798Arg) rs1975911358
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs) rs1975911430
NM_000180.4(GUCY2D):c.239C>T (p.Ala80Val)
NM_000180.4(GUCY2D):c.2400C>T (p.His800=)
NM_000180.4(GUCY2D):c.2402C>A (p.Thr801Asn)
NM_000180.4(GUCY2D):c.2409C>T (p.Asp803=)
NM_000180.4(GUCY2D):c.2412+11G>A
NM_000180.4(GUCY2D):c.2412+13G>A
NM_000180.4(GUCY2D):c.2412+16T>A
NM_000180.4(GUCY2D):c.2412+2T>C rs2151803131
NM_000180.4(GUCY2D):c.2412+8G>A
NM_000180.4(GUCY2D):c.2412+8G>C
NM_000180.4(GUCY2D):c.2412G>T (p.Leu804=)
NM_000180.4(GUCY2D):c.2413-12T>C
NM_000180.4(GUCY2D):c.2413-13C>T
NM_000180.4(GUCY2D):c.2413-14C>G
NM_000180.4(GUCY2D):c.2413-18G>T
NM_000180.4(GUCY2D):c.2413-1G>C rs1975923246
NM_000180.4(GUCY2D):c.2413-4C>T
NM_000180.4(GUCY2D):c.2413-6T>C
NM_000180.4(GUCY2D):c.2421C>T (p.Asn807=)
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.2442G>A (p.Thr814=)
NM_000180.4(GUCY2D):c.2450T>C (p.Ile817Thr)
NM_000180.4(GUCY2D):c.2457G>A (p.Ser819=)
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.2475G>A (p.Glu825=)
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter) rs1338490917
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.2491C>T (p.Leu831=) rs771641368
NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro) rs1975925973
NM_000180.4(GUCY2D):c.2493G>A (p.Leu831=)
NM_000180.4(GUCY2D):c.2494G>A (p.Glu832Lys) rs1975926150
NM_000180.4(GUCY2D):c.2505C>T (p.Ile835=) rs1216216065
NM_000180.4(GUCY2D):c.2509del (p.Glu837fs)
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser) rs61750172
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly) rs61750172
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro) rs61750173
NM_000180.4(GUCY2D):c.2514C>T (p.Arg838=)
NM_000180.4(GUCY2D):c.2515A>C (p.Thr839Pro)
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg) rs61750174
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs) rs756044745
NM_000180.4(GUCY2D):c.2517G>C (p.Thr839=)
NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter) rs1341592819
NM_000180.4(GUCY2D):c.2523GCTGGA[3] (p.Glu845_Lys846insLeuGlu)
NM_000180.4(GUCY2D):c.2526G>A (p.Leu842=)
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro) rs962715477
NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn) rs1598150539
NM_000180.4(GUCY2D):c.2544G>A (p.Lys848=)
NM_000180.4(GUCY2D):c.2545A>G (p.Thr849Ala) rs2151803362
NM_000180.4(GUCY2D):c.2550C>T (p.Asp850=)
NM_000180.4(GUCY2D):c.2556G>A (p.Leu852=)
NM_000180.4(GUCY2D):c.2562A>G (p.Thr854=)
NM_000180.4(GUCY2D):c.2572C>A (p.Pro858Thr) rs61750176
NM_000180.4(GUCY2D):c.2576+15G>A
NM_000180.4(GUCY2D):c.2576+1G>A
NM_000180.4(GUCY2D):c.2576+20G>A rs1975929620
NM_000180.4(GUCY2D):c.2576+7G>T
NM_000180.4(GUCY2D):c.2577-11G>A
NM_000180.4(GUCY2D):c.2577-2A>C rs1975931968
NM_000180.4(GUCY2D):c.2577-2A>G
NM_000180.4(GUCY2D):c.2577-6C>T
NM_000180.4(GUCY2D):c.2592C>T (p.Ala864=)
NM_000180.4(GUCY2D):c.2600C>A (p.Thr867Lys) rs375727197
NM_000180.4(GUCY2D):c.2601G>A (p.Thr867=) rs760202269
NM_000180.4(GUCY2D):c.260A>C (p.Asp87Ala)
NM_000180.4(GUCY2D):c.2613G>A (p.Val871=)
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.2619C>T (p.Pro873=)
NM_000180.4(GUCY2D):c.261C>T (p.Asp87=) rs1392838271
NM_000180.4(GUCY2D):c.2624A>G (p.Tyr875Cys) rs1300820031
NM_000180.4(GUCY2D):c.2626T>A (p.Phe876Ile)
NM_000180.4(GUCY2D):c.2627T>C (p.Phe876Ser) rs762981013
NM_000180.4(GUCY2D):c.2628T>C (p.Phe876=)
NM_000180.4(GUCY2D):c.2632C>T (p.Gln878Ter)
NM_000180.4(GUCY2D):c.2634A>G (p.Gln878=)
NM_000180.4(GUCY2D):c.2641C>T (p.Leu881=)
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter) rs1567961697
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs) rs1598150748
NM_000180.4(GUCY2D):c.264C>A (p.Pro88=)
NM_000180.4(GUCY2D):c.264C>T (p.Pro88=) rs756121043
NM_000180.4(GUCY2D):c.2655C>T (p.Asp885=)
NM_000180.4(GUCY2D):c.2659G>T (p.Val887Leu)
NM_000180.4(GUCY2D):c.2660T>G (p.Val887Gly) rs573270795
NM_000180.4(GUCY2D):c.2667C>T (p.Phe889=)
NM_000180.4(GUCY2D):c.2674A>G (p.Ile892Val) rs1165720101
NM_000180.4(GUCY2D):c.2678_2679del (p.Ser893fs)
NM_000180.4(GUCY2D):c.267C>T (p.Gly89=)
NM_000180.4(GUCY2D):c.2685G>A (p.Met895Ile)
NM_000180.4(GUCY2D):c.2700G>A (p.Glu900=) rs1379084211
NM_000180.4(GUCY2D):c.2707G>T (p.Asp903Tyr) rs1975936032
NM_000180.4(GUCY2D):c.2710C>T (p.Leu904=)
NM_000180.4(GUCY2D):c.272C>A (p.Ala91Glu)
NM_000180.4(GUCY2D):c.2730dup (p.Leu911fs)
NM_000180.4(GUCY2D):c.2735_2736del (p.Leu911_Phe912insTer)
NM_000180.4(GUCY2D):c.2746A>G (p.Ile916Val)
NM_000180.4(GUCY2D):c.2749G>T (p.Gly917Cys)
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.4(GUCY2D):c.2769+14G>C
NM_000180.4(GUCY2D):c.2769+15G>C
NM_000180.4(GUCY2D):c.2769+16G>C
NM_000180.4(GUCY2D):c.2769+16del
NM_000180.4(GUCY2D):c.2769+1G>A
NM_000180.4(GUCY2D):c.2769+8G>A
NM_000180.4(GUCY2D):c.2769+9T>G
NM_000180.4(GUCY2D):c.2770-10C>T
NM_000180.4(GUCY2D):c.2770-13C>T
NM_000180.4(GUCY2D):c.2770-14_2770-12del
NM_000180.4(GUCY2D):c.2770-16C>T rs1975942786
NM_000180.4(GUCY2D):c.2770-1G>C rs1975943461
NM_000180.4(GUCY2D):c.2770-20A>C
NM_000180.4(GUCY2D):c.2770-2A>G rs1975943416
NM_000180.4(GUCY2D):c.2770-34_2925del
NM_000180.4(GUCY2D):c.2770-4C>G
NM_000180.4(GUCY2D):c.2770-4C>T
NM_000180.4(GUCY2D):c.2770-7C>A
NM_000180.4(GUCY2D):c.2770-9_2770-7del
NM_000180.4(GUCY2D):c.2775G>A (p.Glu925=)
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.2783G>C (p.Gly928Ala) rs1975943992
NM_000180.4(GUCY2D):c.2788G>A (p.Ala930Thr) rs1370972064
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro) rs61750179
NM_000180.4(GUCY2D):c.2805G>A (p.Ser935=)
NM_000180.4(GUCY2D):c.2808G>C (p.Gly936=)
NM_000180.4(GUCY2D):c.2813C>G (p.Pro938Arg) rs1975945188
NM_000180.4(GUCY2D):c.2823T>C (p.Asn941=)
NM_000180.4(GUCY2D):c.2830C>G (p.Arg944Gly) rs756575304
NM_000180.4(GUCY2D):c.2835C>T (p.His945=)
NM_000180.4(GUCY2D):c.2836G>A (p.Ala946Thr) rs1975945845
NM_000180.4(GUCY2D):c.2836G>C (p.Ala946Pro)
NM_000180.4(GUCY2D):c.2836G>T (p.Ala946Ser) rs1975945845
NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu) rs61750180
NM_000180.4(GUCY2D):c.2838G>C (p.Ala946=)
NM_000180.4(GUCY2D):c.2842G>A (p.Glu948Lys) rs2151803652
NM_000180.4(GUCY2D):c.2845A>C (p.Ile949Leu)
NM_000180.4(GUCY2D):c.2848G>A (p.Ala950Thr) rs1306952187
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val) rs61750181
NM_000180.4(GUCY2D):c.284G>C (p.Arg95Pro) rs1285198149
NM_000180.4(GUCY2D):c.2859A>T (p.Ser953=)
NM_000180.4(GUCY2D):c.2860C>T (p.Leu954=)
NM_000180.4(GUCY2D):c.2871C>A (p.Leu957=)
NM_000180.4(GUCY2D):c.2871del (p.Ser958fs) rs2151803659
NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg) rs2151803661
NM_000180.4(GUCY2D):c.2877C>A (p.Ala959=)
NM_000180.4(GUCY2D):c.2877C>T (p.Ala959=)
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.2892C>A (p.Arg964=)
NM_000180.4(GUCY2D):c.2896C>G (p.Arg966Gly) rs933256547
NM_000180.4(GUCY2D):c.2897G>A (p.Arg966His)
NM_000180.4(GUCY2D):c.2899del (p.His967fs) rs61750183
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.2916C>T (p.Pro972=)
NM_000180.4(GUCY2D):c.2917G>A (p.Val973Met)
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2928C>A (p.Arg976=) rs761309365
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.2939A>T (p.His980Leu) rs764954235
NM_000180.4(GUCY2D):c.2944+10G>C rs779480027
NM_000180.4(GUCY2D):c.2944+11G>A
NM_000180.4(GUCY2D):c.2944+14_2944+23dup
NM_000180.4(GUCY2D):c.2944+17C>G
NM_000180.4(GUCY2D):c.2944+18C>G
NM_000180.4(GUCY2D):c.2944+19_2944+26del
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2944+7C>T
NM_000180.4(GUCY2D):c.2945-11C>A
NM_000180.4(GUCY2D):c.2945-15C>T rs1975955681
NM_000180.4(GUCY2D):c.2945-16C>A
NM_000180.4(GUCY2D):c.2945-18C>A
NM_000180.4(GUCY2D):c.2945-7_2945-6del rs754170656
NM_000180.4(GUCY2D):c.2946T>A (p.Gly982=)
NM_000180.4(GUCY2D):c.2946T>C (p.Gly982=) rs1290360925
NM_000180.4(GUCY2D):c.2950T>C (p.Cys984Arg) rs1975956164
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
NM_000180.4(GUCY2D):c.295G>T (p.Ala99Ser) rs1304984076
NM_000180.4(GUCY2D):c.2961C>A (p.Gly987=) rs140936694
NM_000180.4(GUCY2D):c.2961C>T (p.Gly987=)
NM_000180.4(GUCY2D):c.2965G>C (p.Val989Leu) rs1248867031
NM_000180.4(GUCY2D):c.2978del (p.Met993fs) rs1598151437
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter) rs1975957350
NM_000180.4(GUCY2D):c.2992C>T (p.Leu998=)
NM_000180.4(GUCY2D):c.2994G>A (p.Leu998=)
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs) rs1975957618
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys) rs281865408
NM_000180.4(GUCY2D):c.3005C>T (p.Thr1002Met) rs1462685344
NM_000180.4(GUCY2D):c.3009C>T (p.Val1003=) rs1322441705
NM_000180.4(GUCY2D):c.3015C>T (p.Thr1005=)
NM_000180.4(GUCY2D):c.3018C>G (p.Ala1006=)
NM_000180.4(GUCY2D):c.3018C>T (p.Ala1006=)
NM_000180.4(GUCY2D):c.3020C>T (p.Ser1007Leu)
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu) rs61750188
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg) rs868612148
NM_000180.4(GUCY2D):c.3038G>A (p.Gly1013Glu) rs1975959442
NM_000180.4(GUCY2D):c.3043+11C>A
NM_000180.4(GUCY2D):c.3043+11C>T rs116870332
NM_000180.4(GUCY2D):c.3043+12G>A
NM_000180.4(GUCY2D):c.3043+14G>C
NM_000180.4(GUCY2D):c.3043+15del
NM_000180.4(GUCY2D):c.3043+17_3043+27dup
NM_000180.4(GUCY2D):c.3043+4A>T rs61750189
NM_000180.4(GUCY2D):c.3043+5G>A rs751822337
NM_000180.4(GUCY2D):c.3044-10A>G
NM_000180.4(GUCY2D):c.3044-20G>A
NM_000180.4(GUCY2D):c.3044-5C>T
NM_000180.4(GUCY2D):c.3051C>A (p.Arg1017=)
NM_000180.4(GUCY2D):c.3054C>A (p.Ile1018=) rs2151803924
NM_000180.4(GUCY2D):c.3056A>C (p.His1019Pro) rs1429807175
NM_000180.4(GUCY2D):c.3057C>T (p.His1019=) rs780426461
NM_000180.4(GUCY2D):c.305C>A (p.Pro102His)
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter) rs866511152
NM_000180.4(GUCY2D):c.3067A>G (p.Ser1023Gly)
NM_000180.4(GUCY2D):c.306C>A (p.Pro102=)
NM_000180.4(GUCY2D):c.306C>T (p.Pro102=)
NM_000180.4(GUCY2D):c.3074_3075del (p.Val1025fs)
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs) rs281865411
NM_000180.4(GUCY2D):c.3085C>T (p.Arg1029Cys)
NM_000180.4(GUCY2D):c.308A>T (p.Glu103Val)
NM_000180.4(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034fs) rs1555635925
NM_000180.4(GUCY2D):c.309G>A (p.Glu103=)
NM_000180.4(GUCY2D):c.3101G>A (p.Gly1034Asp)
NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter) rs1975964112
NM_000180.4(GUCY2D):c.3106C>A (p.Gln1036Lys) rs61750192
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter) rs61750194
NM_000180.4(GUCY2D):c.3118_3125delinsAAGGTGAGGTAC (p.Arg1040fs)
NM_000180.4(GUCY2D):c.3122G>A (p.Gly1041Asp) rs1975964730
NM_000180.4(GUCY2D):c.3125G>A (p.Arg1042His)
NM_000180.4(GUCY2D):c.3126C>T (p.Arg1042=)
NM_000180.4(GUCY2D):c.3128C>T (p.Thr1043Met) rs1289590584
NM_000180.4(GUCY2D):c.3129G>C (p.Thr1043=)
NM_000180.4(GUCY2D):c.3133C>T (p.Leu1045=)
NM_000180.4(GUCY2D):c.3137A>G (p.Lys1046Arg)
NM_000180.4(GUCY2D):c.3138+17A>G
NM_000180.4(GUCY2D):c.3139-13C>T
NM_000180.4(GUCY2D):c.3139-14C>T
NM_000180.4(GUCY2D):c.3139-3C>G rs771769796
NM_000180.4(GUCY2D):c.3139-4C>T
NM_000180.4(GUCY2D):c.3139-7dup
NM_000180.4(GUCY2D):c.3140G>A (p.Gly1047Asp)
NM_000180.4(GUCY2D):c.3144G>A (p.Lys1048=) rs1406899978
NM_000180.4(GUCY2D):c.3147C>G (p.Gly1049=)
NM_000180.4(GUCY2D):c.3148G>T (p.Ala1050Ser) rs1221467842
NM_000180.4(GUCY2D):c.3150C>T (p.Ala1050=)
NM_000180.4(GUCY2D):c.3151G>A (p.Glu1051Lys) rs1273973537
NM_000180.4(GUCY2D):c.315C>A (p.Cys105Ter) rs2151799357
NM_000180.4(GUCY2D):c.3163T>G (p.Trp1055Gly) rs1975971228
NM_000180.4(GUCY2D):c.3167T>C (p.Leu1056Pro) rs2151804090
NM_000180.4(GUCY2D):c.317G>T (p.Arg106Leu)
NM_000180.4(GUCY2D):c.3186C>T (p.Phe1062=)
NM_000180.4(GUCY2D):c.3188A>G (p.Asn1063Ser) rs1975972260
NM_000180.4(GUCY2D):c.3198C>T (p.Ile1066=)
NM_000180.4(GUCY2D):c.319A>G (p.Thr107Ala) rs2151799362
NM_000180.4(GUCY2D):c.3200C>A (p.Pro1067His)
NM_000180.4(GUCY2D):c.3207G>A (p.Pro1069=)
NM_000180.4(GUCY2D):c.3219A>G (p.Gln1073=)
NM_000180.4(GUCY2D):c.3219dup (p.Pro1074fs) rs1374426388
NM_000180.4(GUCY2D):c.321G>T (p.Thr107=) rs2151799365
NM_000180.4(GUCY2D):c.3222G>A (p.Pro1074=)
NM_000180.4(GUCY2D):c.3224+11_3224+44del
NM_000180.4(GUCY2D):c.3224+16C>A
NM_000180.4(GUCY2D):c.3224+20G>A
NM_000180.4(GUCY2D):c.3224+3G>T rs1258995063
NM_000180.4(GUCY2D):c.3224+6G>A
NM_000180.4(GUCY2D):c.3224+7G>A rs2151804152
NM_000180.4(GUCY2D):c.3225-10C>G
NM_000180.4(GUCY2D):c.3225-10del rs750454050
NM_000180.4(GUCY2D):c.3225-11C>A
NM_000180.4(GUCY2D):c.3225-11C>G
NM_000180.4(GUCY2D):c.3225-11C>T rs1261330161
NM_000180.4(GUCY2D):c.3225-12C>G rs999074662
NM_000180.4(GUCY2D):c.3225-14C>A rs1351613687
NM_000180.4(GUCY2D):c.3225-16C>G
NM_000180.4(GUCY2D):c.3225-19C>T
NM_000180.4(GUCY2D):c.3225-2A>T
NM_000180.4(GUCY2D):c.3225-8C>T
NM_000180.4(GUCY2D):c.3228C>T (p.Ser1076=)
NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs) rs386834239
NM_000180.4(GUCY2D):c.3234C>T (p.Asn1078=)
NM_000180.4(GUCY2D):c.323C>T (p.Pro108Leu) rs2151799367
NM_000180.4(GUCY2D):c.324G>T (p.Pro108=)
NM_000180.4(GUCY2D):c.3258C>G (p.Ile1086Met)
NM_000180.4(GUCY2D):c.325G>T (p.Gly109Cys)
NM_000180.4(GUCY2D):c.3264C>G (p.Pro1088=)
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.3274C>A (p.Arg1092=) rs746525316
NM_000180.4(GUCY2D):c.327C>G (p.Gly109=) rs2151799371
NM_000180.4(GUCY2D):c.327C>T (p.Gly109=)
NM_000180.4(GUCY2D):c.3289G>A (p.Ala1097Thr)
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.3297G>C (p.Pro1099=)
NM_000180.4(GUCY2D):c.330G>T (p.Ser110=)
NM_000180.4(GUCY2D):c.3311G>C (p.Ter1104Ser) rs1301554038
NM_000180.4(GUCY2D):c.339C>T (p.Ala113=)
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.348C>T (p.Ser116=) rs1598144036
NM_000180.4(GUCY2D):c.352C>T (p.Leu118=)
NM_000180.4(GUCY2D):c.366G>C (p.Ser122=) rs1975671932
NM_000180.4(GUCY2D):c.36G>A (p.Pro12=)
NM_000180.4(GUCY2D):c.372C>A (p.Leu124=)
NM_000180.4(GUCY2D):c.372C>T (p.Leu124=)
NM_000180.4(GUCY2D):c.381G>C (p.Pro127=)
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys) rs63340060
NM_000180.4(GUCY2D):c.392C>A (p.Ala131Glu)
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile) rs281865409
NM_000180.4(GUCY2D):c.400C>T (p.Arg134Trp) rs2151799404
NM_000180.4(GUCY2D):c.408C>A (p.Ala136=)
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.414G>C (p.Leu138=)
NM_000180.4(GUCY2D):c.417C>A (p.Leu139=)
NM_000180.4(GUCY2D):c.417C>T (p.Leu139=)
NM_000180.4(GUCY2D):c.418G>A (p.Ala140Thr) rs776276813
NM_000180.4(GUCY2D):c.420C>T (p.Ala140=)
NM_000180.4(GUCY2D):c.42C>T (p.Pro14=)
NM_000180.4(GUCY2D):c.431G>T (p.Gly144Val) rs1975674167
NM_000180.4(GUCY2D):c.438G>A (p.Ala146=)
NM_000180.4(GUCY2D):c.438G>T (p.Ala146=)
NM_000180.4(GUCY2D):c.442del (p.Val148fs)
NM_000180.4(GUCY2D):c.448T>C (p.Trp150Arg)
NM_000180.4(GUCY2D):c.449G>C (p.Trp150Ser)
NM_000180.4(GUCY2D):c.450G>A (p.Trp150Ter)
NM_000180.4(GUCY2D):c.456C>T (p.Cys152=)
NM_000180.4(GUCY2D):c.457C>T (p.Pro153Ser)
NM_000180.4(GUCY2D):c.459C>T (p.Pro153=) rs2151799423
NM_000180.4(GUCY2D):c.45G>T (p.Gly15=)
NM_000180.4(GUCY2D):c.468G>A (p.Gln156=)
NM_000180.4(GUCY2D):c.471G>A (p.Ala157=)
NM_000180.4(GUCY2D):c.475G>A (p.Gly159Ser) rs1975674812
NM_000180.4(GUCY2D):c.484dup (p.Ala162fs) rs2151799452
NM_000180.4(GUCY2D):c.485C>A (p.Ala162Asp)
NM_000180.4(GUCY2D):c.489T>G (p.Pro163=)
NM_000180.4(GUCY2D):c.490G>A (p.Ala164Thr)
NM_000180.4(GUCY2D):c.492C>G (p.Ala164=)
NM_000180.4(GUCY2D):c.492C>T (p.Ala164=)
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg) rs1008930073
NM_000180.4(GUCY2D):c.501del (p.Ala168fs) rs1975675766
NM_000180.4(GUCY2D):c.507G>T (p.Ala169=)
NM_000180.4(GUCY2D):c.516C>G (p.Leu172=)
NM_000180.4(GUCY2D):c.516C>T (p.Leu172=)
NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=) rs794727237
NM_000180.4(GUCY2D):c.51C>A (p.Cys17Ter)
NM_000180.4(GUCY2D):c.520G>T (p.Ala174Ser) rs978982123
NM_000180.4(GUCY2D):c.521C>A (p.Ala174Asp)
NM_000180.4(GUCY2D):c.525G>A (p.Leu175=) rs570251619
NM_000180.4(GUCY2D):c.526C>T (p.Leu176Phe) rs1975677447
NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup) rs63749076
NM_000180.4(GUCY2D):c.531C>T (p.Arg177=)
NM_000180.4(GUCY2D):c.533C>T (p.Ala178Val)
NM_000180.4(GUCY2D):c.534A>G (p.Ala178=) rs758629545
NM_000180.4(GUCY2D):c.534A>T (p.Ala178=)
NM_000180.4(GUCY2D):c.556C>T (p.Leu186=)
NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs) rs1975678842
NM_000180.4(GUCY2D):c.564del (p.Ala189fs) rs2151799492
NM_000180.4(GUCY2D):c.567C>G (p.Ala189=)
NM_000180.4(GUCY2D):c.569C>G (p.Pro190Arg) rs1484809146
NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter) rs768390959
NM_000180.4(GUCY2D):c.571dup (p.Gln191fs)
NM_000180.4(GUCY2D):c.573G>A (p.Gln191=)
NM_000180.4(GUCY2D):c.590C>T (p.Ala197Val)
NM_000180.4(GUCY2D):c.591G>C (p.Ala197=)
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.609G>A (p.Thr203=)
NM_000180.4(GUCY2D):c.60G>C (p.Ala20=)
NM_000180.4(GUCY2D):c.618G>A (p.Arg206=)
NM_000180.4(GUCY2D):c.622del (p.Arg208fs) rs61749671
NM_000180.4(GUCY2D):c.624G>A (p.Arg208=)
NM_000180.4(GUCY2D):c.628C>T (p.Leu210=)
NM_000180.4(GUCY2D):c.630G>A (p.Leu210=)
NM_000180.4(GUCY2D):c.636C>T (p.Val212=)
NM_000180.4(GUCY2D):c.642C>G (p.Ser214=)
NM_000180.4(GUCY2D):c.660C>T (p.Pro220=)
NM_000180.4(GUCY2D):c.667C>T (p.Leu223=)
NM_000180.4(GUCY2D):c.669G>T (p.Leu223=)
NM_000180.4(GUCY2D):c.672T>C (p.Ser224=)
NM_000180.4(GUCY2D):c.679C>A (p.Arg227=) rs1366343667
NM_000180.4(GUCY2D):c.681G>A (p.Arg227=)
NM_000180.4(GUCY2D):c.685G>T (p.Ala229Ser)
NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs) rs2151799567
NM_000180.4(GUCY2D):c.693G>T (p.Arg231Ser) rs759280279
NM_000180.4(GUCY2D):c.69T>A (p.Ala23=)
NM_000180.4(GUCY2D):c.705C>A (p.Asp235Glu)
NM_000180.4(GUCY2D):c.705C>T (p.Asp235=)
NM_000180.4(GUCY2D):c.708G>T (p.Gly236=)
NM_000180.4(GUCY2D):c.711C>A (p.Pro237=) rs750484873
NM_000180.4(GUCY2D):c.711C>T (p.Pro237=)
NM_000180.4(GUCY2D):c.714G>A (p.Arg238=)
NM_000180.4(GUCY2D):c.717C>G (p.Val239=)
NM_000180.4(GUCY2D):c.721+10C>T
NM_000180.4(GUCY2D):c.721+17G>A
NM_000180.4(GUCY2D):c.721+17G>T
NM_000180.4(GUCY2D):c.721+5G>C
NM_000180.4(GUCY2D):c.721+5G>T rs1389913804
NM_000180.4(GUCY2D):c.721+8C>G
NM_000180.4(GUCY2D):c.721+9C>T
NM_000180.4(GUCY2D):c.722-17C>T
NM_000180.4(GUCY2D):c.722-4G>A
NM_000180.4(GUCY2D):c.722-5C>T
NM_000180.4(GUCY2D):c.723A>G (p.Ala241=) rs1288920920
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly) rs1975686657
NM_000180.4(GUCY2D):c.726G>A (p.Val242=) rs886038268
NM_000180.4(GUCY2D):c.735G>A (p.Val245=)
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.744G>C (p.Ser248=)
NM_000180.4(GUCY2D):c.752T>C (p.Leu251Pro) rs1243270832
NM_000180.4(GUCY2D):c.75C>T (p.Ser25=)
NM_000180.4(GUCY2D):c.763G>A (p.Glu255Lys)
NM_000180.4(GUCY2D):c.767A>C (p.Gln256Pro) rs2151799650
NM_000180.4(GUCY2D):c.781_782insT (p.Glu261fs)
NM_000180.4(GUCY2D):c.785C>A (p.Ala262Asp)
NM_000180.4(GUCY2D):c.786C>T (p.Ala262=)
NM_000180.4(GUCY2D):c.787G>C (p.Ala263Pro)
NM_000180.4(GUCY2D):c.787G>T (p.Ala263Ser) rs745444949
NM_000180.4(GUCY2D):c.78G>T (p.Leu26=) rs2151799217
NM_000180.4(GUCY2D):c.796C>G (p.Leu266Val)
NM_000180.4(GUCY2D):c.804G>A (p.Leu268=)
NM_000180.4(GUCY2D):c.807C>T (p.Thr269=)
NM_000180.4(GUCY2D):c.813C>T (p.Gly271=)
NM_000180.4(GUCY2D):c.819G>A (p.Leu273=)
NM_000180.4(GUCY2D):c.822C>G (p.Val274=)
NM_000180.4(GUCY2D):c.822C>T (p.Val274=) rs2151799672
NM_000180.4(GUCY2D):c.826del (p.Leu276fs) rs2151799674
NM_000180.4(GUCY2D):c.834C>T (p.Phe278=) rs1248892843
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn) rs1478566225
NM_000180.4(GUCY2D):c.838A>G (p.Thr280Ala)
NM_000180.4(GUCY2D):c.840G>A (p.Thr280=)
NM_000180.4(GUCY2D):c.840G>T (p.Thr280=) rs370291650
NM_000180.4(GUCY2D):c.843C>A (p.Ile281=)
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter) rs143745703
NM_000180.4(GUCY2D):c.849C>T (p.Tyr283=)
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.858C>G (p.Ser286=)
NM_000180.4(GUCY2D):c.85C>T (p.Leu29Phe)
NM_000180.4(GUCY2D):c.860del (p.Pro287fs)
NM_000180.4(GUCY2D):c.879C>T (p.Ala293=)
NM_000180.4(GUCY2D):c.87C>G (p.Leu29=)
NM_000180.4(GUCY2D):c.884T>G (p.Leu295Arg) rs2151799705
NM_000180.4(GUCY2D):c.890A>G (p.Asn297Ser)
NM_000180.4(GUCY2D):c.909G>A (p.Arg303=) rs772311336
NM_000180.4(GUCY2D):c.914del (p.His305fs) rs1598144694
NM_000180.4(GUCY2D):c.915C>G (p.His305Gln)
NM_000180.4(GUCY2D):c.915C>T (p.His305=) rs1975693104
NM_000180.4(GUCY2D):c.91C>G (p.Arg31Gly)
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) rs61749663
NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs) rs1975693728
NM_000180.4(GUCY2D):c.929C>A (p.Thr310Asn) rs1975693830
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.93G>T (p.Arg31=)
NM_000180.4(GUCY2D):c.941dup (p.His314fs)
NM_000180.4(GUCY2D):c.94_105del (p.Ala32_Arg35del)
NM_000180.4(GUCY2D):c.954A>G (p.Glu318=)
NM_000180.4(GUCY2D):c.956_967dup (p.Gly319_Leu322dup) rs1248938251
NM_000180.4(GUCY2D):c.964C>T (p.Leu322=) rs563208176
NM_000180.4(GUCY2D):c.969C>T (p.Asp323=)
NM_000180.4(GUCY2D):c.978C>T (p.Arg326=) rs2151799758
NM_000180.4(GUCY2D):c.983C>A (p.Ala328Asp)
NM_000180.4(GUCY2D):c.990G>A (p.Glu330=) rs2151799762
NM_000180.4(GUCY2D):c.992G>T (p.Arg331Leu)
NM_000180.4(GUCY2D):c.993C>T (p.Arg331=)
NM_000180.4(GUCY2D):c.995G>C (p.Arg332Pro)
NM_000180.4(GUCY2D):c.996C>T (p.Arg332=)
NM_000180.4(GUCY2D):c.997G>C (p.Glu333Gln) rs755999834
NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter) rs755999834
NM_000180.4(GUCY2D):c.[1978C>T];[2960G>C]
NM_000180.4(GUCY2D):c.[1978C>T];[3038G>A]
NM_000180.4(GUCY2D):c.[1991A>C];[2649del]
NM_000180.4(GUCY2D):c.[1991A>C];[2984G>A]
NM_000180.4(GUCY2D):c.[2649del];[3038G>A]
NM_000180.4(GUCY2D):c.[2818C>T];[3038G>A]
NM_000180.4(GUCY2D):c.[2984G>A];[3044-1G>C]
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.*735del rs577675068
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1152C>G (p.Val384=) rs1571158917
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) rs34627040
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs) rs2100806889
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
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.227A>C (p.His76Pro) rs1571172233
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.293T>C (p.Ile98Thr) rs1645930635
NM_000329.3(RPE65):c.354-1G>A rs2100827985
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.440_441del (p.Thr147fs) rs1201299067
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.644-2A>G
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) rs373652862
NM_000329.3(RPE65):c.751G>A (p.Val251Ile) rs1325815513
NM_000329.3(RPE65):c.893del (p.Lys298fs) rs61752902
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys) rs768448761
NM_000329.3(RPE65):c.975T>C (p.Ile325=) rs761227832
NM_000329.3(RPE65):c.[1067dup];[1543C>T]
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000440.3(PDE6A):c.2027+5G>T rs794727166
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*1654dup rs138321430
NM_000554.6(CRX):c.*1900del rs796977583
NM_000554.6(CRX):c.*308AAG[2] rs398059782
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*754_*756dup rs60558029
NM_000554.6(CRX):c.*756dup rs60558029
NM_000554.6(CRX):c.443del (p.Gly148fs) rs1968165374
NM_000554.6(CRX):c.480_481del (p.Ser161fs) rs1599991538
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175
NM_000554.6(CRX):c.[101-1G>A];[122G>A]
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His) rs1584727989
NM_001009894.3(RLIG1):c.*618TATT[1] rs886049876
NM_001009894.3(RLIG1):c.*743_*746del rs142288119
NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter) rs1948821736
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter) rs1553722736
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001103146.3(GIGYF2):c.532+5018dup rs746052279
NM_001103146.3(GIGYF2):c.532+6575_532+6576del rs758195599
NM_001103146.3(GIGYF2):c.533-10649_533-10648del rs5839447
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.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter) rs765473119
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.1676C>A (p.Ser559Ter) rs766143193
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_001122769.3(LCA5):c.516_519del (p.Lys172fs) rs1286660951
NM_001122769.3(LCA5):c.550del (p.Ala184fs) rs2127680021
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) rs1769904494
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001134831.2(AHI1):c.1912+5G>T rs1554347012
NM_001164688.2(RD3):c.*1305del rs886045896
NM_001164688.2(RD3):c.*1307_*1308insCT rs142577368
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_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu) rs1577358031
NM_001378454.1(ALMS1):c.3345dup (p.Leu1116fs) rs2103778571
NM_001378454.1(ALMS1):c.4244del (p.Gly1415fs) rs2103781993
NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs) rs2103793713
NM_001378454.1(ALMS1):c.7879_7880insACAG (p.Val2627fs) rs2103889898
NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter) rs1188328539
NM_001378615.1(CC2D2A):c.[2803C>T];[934G>A]
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884
NM_003322.6(TULP1):c.*273del rs112061946
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter) rs1581736099
NM_003322.6(TULP1):c.1388del (p.Asn463fs) rs1581736024
NM_003322.6(TULP1):c.1495+2dup rs1581735836
NM_003322.6(TULP1):c.241_249delinsC (p.Ala81fs)
NM_003322.6(TULP1):c.524dup (p.Pro176fs) rs1327062642
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter) rs1581743256
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs) rs1581742633
NM_003322.6(TULP1):c.790C>T (p.Gln264Ter) rs2150926986
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs) rs1581740762
NM_003322.6(TULP1):c.855dup (p.Val286fs) rs1554125752
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) rs201070350
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT rs372786858
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_004744.5(LRAT):c.346T>C (p.Phe116Leu) rs1578860322
NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu)
NM_004928.3(CFAP410):c.643-2A>G rs1602071524
NM_006017.3(PROM1):c.139del (p.His47fs) rs747512450
NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs) rs1300041533
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs) rs1554519422
NM_006915.3(RP2):c.102+3A>C rs1556313557
NM_006915.3(RP2):c.102G>A (p.Lys34=) rs1556313552
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_014336.5(AIPL1):c.*1398G>A rs886053259
NM_014336.5(AIPL1):c.*150_*151insCAA rs200523461
NM_014336.5(AIPL1):c.*151_*152del rs77115868
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.211G>T (p.Val71Phe) rs775364986
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter) rs1468041544
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.34dup (p.Val12fs) rs752193525
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.730GAG[1] (p.Glu245del) rs1200311161
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) rs1284009768
NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter) rs1208703297
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_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg)
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro) rs1600361737
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) rs777069665
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp) rs768028061
NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile) rs371609982
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs) rs777346333
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile) rs200244203
NM_018418.5(SPATA7):c.3G>T (p.Met1Ile)
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer) rs567890014
NM_018418.5(SPATA7):c.[1160+1G>A];[388C>T]
NM_018418.5(SPATA7):c.[388C>T];[657del]
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.991-3T>G rs773372519
NM_020366.3(RPGRIP1):c.[2302C>T];[3565_3571del]
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.4(RPGRIP1):c.1152-1749_1763-1241del
NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)
NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys) rs751521888
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs) rs61751270
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter) rs1555303320
NM_020366.4(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.4(RPGRIP1):c.3565_3571del (p.Arg1189fs) rs587783012
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
NM_020366.4(RPGRIP1):c.3748+17dup rs578107768
NM_020366.4(RPGRIP1):c.[2079C>G];[2212_2215+21del]
NM_021728.4(OTX2):c.698del (p.Asn233fs) rs2139528052
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr) rs1641970512
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln) rs747653875
NM_022787.4(NMNAT1):c.[196C>T];[709C>T]
NM_022787.4(NMNAT1):c.[275G>A];[709C>T]
NM_024649.5(BBS1):c.[1285C>T];[908del]
NM_025114.4(CEP290):c.102+1G>T rs2040637111
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1189+1G>A rs2039659434
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
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.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.1516C>T (p.Arg506Cys) rs368427967
NM_025114.4(CEP290):c.1522+8A>G rs1410927153
NM_025114.4(CEP290):c.1523-1G>T rs1192112844
NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg) rs1390141039
NM_025114.4(CEP290):c.1623+5G>A rs1555222073
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val) rs1459958084
NM_025114.4(CEP290):c.1789T>C (p.Leu597=) rs2039096949
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs) rs766608755
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs) rs1033594764
NM_025114.4(CEP290):c.188C>T (p.Ala63Val) rs769705891
NM_025114.4(CEP290):c.1910-11T>G rs1555220638
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile) rs2038915965
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
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.2119_2123dup (p.Thr709fs) rs62640580
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
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.2268A>G (p.Ser756=) rs2468255
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.2390del (p.Lys797fs) rs781670422
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.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3181A>G (p.Met1061Val) rs1201486566
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
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.3574-9del rs10717563
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.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
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.4090G>T (p.Glu1364Ter) rs779645669
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.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) rs371157150
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
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.5391T>C (p.Asn1797=) rs1034544936
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs) rs757609119
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs) rs749331348
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs) rs281865187
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg) rs2035881706
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5709+1G>A rs759850328
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.5788A>T (p.Lys1930Ter) rs1592784618
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
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.6001T>C (p.Leu2001=) rs112738303
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.6165T>C (p.Cys2055=) rs2034700190
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.6522+5dup rs11405846
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.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020
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.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
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_025114.4(CEP290):c.[1429C>T];[322C>T]
NM_025114.4(CEP290):c.[1666del];[6012-12T>A]
NM_025114.4(CEP290):c.[3847C>T];[6271-1G>A]
NM_025114.4(CEP290):c.[3904C>T];[4655AAG[2]]
NM_025114.4(CEP290):c.[4655AAG[2]];[6012-12T>A]
NM_152443.3(RDH12):c.*1C>G rs2038317945
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.187+5G>A rs2038164046
NM_152443.3(RDH12):c.188-1G>A rs2140142183
NM_152443.3(RDH12):c.189del (p.Ala64fs)
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) rs368489658
NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del) rs754556714
NM_152443.3(RDH12):c.2T>C (p.Met1Thr)
NM_152443.3(RDH12):c.39G>A (p.Ser13=) rs146672918
NM_152443.3(RDH12):c.474C>G (p.Leu158=) rs755916691
NM_152443.3(RDH12):c.474C>T (p.Leu158=) rs755916691
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) rs761167763
NM_152443.3(RDH12):c.540T>G (p.Ile180Met) rs778933833
NM_152443.3(RDH12):c.552C>T (p.Pro184=) rs1453486367
NM_152443.3(RDH12):c.580dup (p.Tyr194fs) rs2140145502
NM_152443.3(RDH12):c.608G>C (p.Ser203Thr) rs1374822427
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) rs753959716
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.667G>T (p.Val223Phe) rs370015375
NM_152443.3(RDH12):c.68+1G>A rs2140138146
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
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.784del (p.Ala262fs) rs1594867551
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152443.3(RDH12):c.878G>T (p.Arg293Met) rs746131696
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter) rs2038317129
NM_152443.3(RDH12):c.931C>T (p.Leu311=) rs201458213
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.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
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.1428C>G (p.Thr476=) rs62636282
NM_201253.3(CRB1):c.1431G>A (p.Gly477=) rs761872993
NM_201253.3(CRB1):c.1431del (p.Ser478fs) rs1553260321
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs) rs1571523319
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro) rs1571524102
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) rs1266363944
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser) rs1571525145
NM_201253.3(CRB1):c.200G>C (p.Cys67Ser) rs749112809
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
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.2133T>A (p.Tyr711Ter) rs772794324
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
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.2316A>G (p.Leu772=) rs964544440
NM_201253.3(CRB1):c.245G>A (p.Ser82Asn) rs1658661237
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp) rs1085307972
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter) rs62636260
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.2680_2684del (p.Asn894fs) rs1571544281
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs) rs1571848132
NM_201253.3(CRB1):c.2805C>A (p.His935Gln) rs767706271
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro) rs114630940
NM_201253.3(CRB1):c.281_282del (p.Phe94fs) rs1571848166
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.2843-1G>T rs878853368
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr) rs1571848190
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del) rs1571848216
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.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) rs1064797128
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) rs1452661857
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=) rs535494663
NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg) rs779253997
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) rs1571557864
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.3626_3627del (p.Val1209fs)
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys) rs1007094417
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup) rs750573216
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
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.455G>A (p.Cys152Tyr) rs1571848744
NM_201253.3(CRB1):c.479G>A (p.Gly160Glu) rs1352663513
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe) rs1571848855
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.512C>G (p.Ser171Cys) rs763841981
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer) rs778731851
NM_201253.3(CRB1):c.71-2A>G rs1383691293
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.984G>A (p.Trp328Ter) rs1571878277
NM_201253.3(CRB1):c.988+10A>T rs1659846392
NM_201253.3(CRB1):c.[1208C>G];[1576C>T]
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126

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