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
|
|