ClinVar Miner

List of variants studied for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1422
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.201640906del
NC_000004.11:g.(?_15480347)_(15482451_?)del
NC_000006.11:g.(?_135715894)_(135732702_?)del
NC_000006.11:g.(?_135751020)_(135754394_?)del
NC_000023.10:g.(?_13753080)_(13754816_?)dup
NC_000023.10:g.(?_13753171)_(13762658_?)del
NM_000272.4(NPHP1):c.*250C>T rs150558683
NM_000272.4(NPHP1):c.*322A>G rs886054752
NM_000272.4(NPHP1):c.*333_*335AAC[1] rs555468187
NM_000272.4(NPHP1):c.1035A>G (p.Gln345=) rs371112962
NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile) rs140469160
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys) rs375907280
NM_000272.4(NPHP1):c.1447G>C (p.Glu483Gln) rs886054753
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys) rs149887461
NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu) rs573192954
NM_000272.4(NPHP1):c.1889C>T (p.Ser630Leu) rs138181219
NM_000272.4(NPHP1):c.2100C>T (p.Gly700=) rs200631256
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.4(NPHP1):c.456A>G (p.Ser152=) rs143163969
NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_000272.4(NPHP1):c.635_637AAG[5] (p.Glu215dup) rs777677768
NM_000272.4(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.4(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000272.4(NPHP1):c.830G>A (p.Arg277Gln) rs143174377
NM_000272.4(NPHP1):c.860A>G (p.Asn287Ser) rs139787582
NM_000272.4(NPHP1):c.969G>A (p.Thr323=) rs141763330
NM_000272.4(NPHP1):c.988G>C (p.Gly330Arg) rs886054754
NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_001009894.3(C12orf29):c.*743_*746del rs142288119
NM_001009894.3(C12orf29):c.*786A>T rs794727762
NM_001009894.3(C12orf29):c.*827G>A rs754398792
NM_001009894.3(C12orf29):c.*837T>C rs765709669
NM_001009894.3(C12orf29):c.*870_*874CTTCT[3]
NM_001009894.3(C12orf29):c.*891C>A rs534440681
NM_001009894.3(C12orf29):c.*926C>T rs200178519
NM_001044385.2(TMEM237):c.-126G>A rs572770188
NM_001044385.3(TMEM237):c.*1107C>T rs143516209
NM_001044385.3(TMEM237):c.*1108A>G rs758086204
NM_001044385.3(TMEM237):c.*1151C>T rs188943302
NM_001044385.3(TMEM237):c.*1303G>A rs886055444
NM_001044385.3(TMEM237):c.*1378A>G rs886055443
NM_001044385.3(TMEM237):c.*1603T>G rs886055442
NM_001044385.3(TMEM237):c.*1762G>A rs886055441
NM_001044385.3(TMEM237):c.*2044T>C rs886055440
NM_001044385.3(TMEM237):c.*2141C>T rs147652455
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.*2431T>G rs142355657
NM_001044385.3(TMEM237):c.*2465A>G rs527921749
NM_001044385.3(TMEM237):c.*2480T>G rs75655554
NM_001044385.3(TMEM237):c.*2582G>T rs886055439
NM_001044385.3(TMEM237):c.*258del rs558670305
NM_001044385.3(TMEM237):c.*2682G>C rs886055438
NM_001044385.3(TMEM237):c.*2719G>A rs142852956
NM_001044385.3(TMEM237):c.*283A>C rs886055446
NM_001044385.3(TMEM237):c.*2960C>A rs188637429
NM_001044385.3(TMEM237):c.*3013A>G rs886055437
NM_001044385.3(TMEM237):c.*308T>G rs185380807
NM_001044385.3(TMEM237):c.*3372C>T rs192214909
NM_001044385.3(TMEM237):c.*3385C>T rs374762322
NM_001044385.3(TMEM237):c.*3453T>G rs77771615
NM_001044385.3(TMEM237):c.*3513del rs143218667
NM_001044385.3(TMEM237):c.*3697G>A rs761856568
NM_001044385.3(TMEM237):c.*3728A>G rs555315551
NM_001044385.3(TMEM237):c.*3855A>G rs187328136
NM_001044385.3(TMEM237):c.*4020T>A rs886055435
NM_001044385.3(TMEM237):c.*470_*473del rs886055445
NM_001044385.3(TMEM237):c.*492T>C rs530304720
NM_001044385.3(TMEM237):c.*714_*715del rs373844800
NM_001044385.3(TMEM237):c.*987C>T rs568084746
NM_001044385.3(TMEM237):c.-12G>A rs113186360
NM_001044385.3(TMEM237):c.-25G>A rs568671275
NM_001044385.3(TMEM237):c.-59G>A rs886055449
NM_001044385.3(TMEM237):c.-61G>A rs571550977
NM_001044385.3(TMEM237):c.-67T>G rs886055450
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.3(TMEM237):c.395+7A>G rs78297522
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448
NM_001044385.3(TMEM237):c.75-13T>C rs116829037
NM_001044385.3(TMEM237):c.80-11T>C rs76296365
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956
NM_001080522.2(CC2D2A):c.*1T>A rs199945435
NM_001080522.2(CC2D2A):c.*21G>C rs1134634
NM_001080522.2(CC2D2A):c.*45G>C rs372449768
NM_001080522.2(CC2D2A):c.1017+1G>A rs200407856
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095
NM_001080522.2(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432
NM_001080522.2(CC2D2A):c.1260T>G (p.Cys420Trp)
NM_001080522.2(CC2D2A):c.1266C>G (p.Ser422Arg) rs1229319521
NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121
NM_001080522.2(CC2D2A):c.1359+10A>G rs373012628
NM_001080522.2(CC2D2A):c.1359+9G>T rs369964702
NM_001080522.2(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1533A>T (p.Lys511Asn)
NM_001080522.2(CC2D2A):c.1546A>G (p.Met516Val)
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161
NM_001080522.2(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001080522.2(CC2D2A):c.1731G>A (p.Ser577=) rs376746356
NM_001080522.2(CC2D2A):c.1821T>C (p.Ile607=) rs373296447
NM_001080522.2(CC2D2A):c.1827G>A (p.Glu609=) rs886059138
NM_001080522.2(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142
NM_001080522.2(CC2D2A):c.1946C>G (p.Thr649Arg) rs201884883
NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001080522.2(CC2D2A):c.1947G>A (p.Thr649=) rs756341605
NM_001080522.2(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2007G>A (p.Ala669=) rs376644970
NM_001080522.2(CC2D2A):c.2056G>A (p.Val686Met) rs369476930
NM_001080522.2(CC2D2A):c.2090T>C (p.Val697Ala)
NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727
NM_001080522.2(CC2D2A):c.2133G>C (p.Gln711His) rs886059139
NM_001080522.2(CC2D2A):c.2181+7A>C rs143681243
NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366
NM_001080522.2(CC2D2A):c.2339-10_2339-9del rs886059157
NM_001080522.2(CC2D2A):c.2437G>A (p.Gly813Arg)
NM_001080522.2(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001080522.2(CC2D2A):c.2486+8A>G rs749186859
NM_001080522.2(CC2D2A):c.2486+9T>C rs768382177
NM_001080522.2(CC2D2A):c.2526A>G (p.Thr842=) rs886059158
NM_001080522.2(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573
NM_001080522.2(CC2D2A):c.2625+1G>A
NM_001080522.2(CC2D2A):c.2687A>C (p.Glu896Ala) rs1553838206
NM_001080522.2(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216
NM_001080522.2(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.2844G>A (p.Arg948=) rs182369056
NM_001080522.2(CC2D2A):c.3014+4A>C rs748451478
NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3154G>A (p.Asp1052Asn)
NM_001080522.2(CC2D2A):c.3157A>G (p.Ile1053Val)
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001080522.2(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181
NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627
NM_001080522.2(CC2D2A):c.3288+3G>A
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001080522.2(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001080522.2(CC2D2A):c.3398+13T>C rs886059183
NM_001080522.2(CC2D2A):c.3398+7A>G rs772784324
NM_001080522.2(CC2D2A):c.3399-15T>C rs181612746
NM_001080522.2(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
NM_001080522.2(CC2D2A):c.3503G>A (p.Arg1168His)
NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948
NM_001080522.2(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.3567A>G (p.Pro1189=) rs1553841140
NM_001080522.2(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001080522.2(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324
NM_001080522.2(CC2D2A):c.3689G>A (p.Arg1230Gln) rs778082588
NM_001080522.2(CC2D2A):c.3751G>A (p.Gly1251Arg)
NM_001080522.2(CC2D2A):c.3779C>T (p.Ser1260Phe) rs759726075
NM_001080522.2(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129
NM_001080522.2(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044
NM_001080522.2(CC2D2A):c.389G>A (p.Arg130His)
NM_001080522.2(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001080522.2(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001080522.2(CC2D2A):c.3988C>T (p.Arg1330Ter) rs758036385
NM_001080522.2(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524
NM_001080522.2(CC2D2A):c.4065+9T>C rs748709735
NM_001080522.2(CC2D2A):c.4084dup (p.Ala1362fs)
NM_001080522.2(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001080522.2(CC2D2A):c.4139G>A (p.Gly1380Asp) rs1271963891
NM_001080522.2(CC2D2A):c.4179+1del rs386833760
NM_001080522.2(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4345C>G (p.Pro1449Ala) rs375410796
NM_001080522.2(CC2D2A):c.4437G>C (p.Gln1479His) rs878854168
NM_001080522.2(CC2D2A):c.4438-9C>A rs117667651
NM_001080522.2(CC2D2A):c.4442A>C (p.Glu1481Ala) rs886059185
NM_001080522.2(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.4541G>A (p.Arg1514His)
NM_001080522.2(CC2D2A):c.4550C>T (p.Thr1517Ile)
NM_001080522.2(CC2D2A):c.4552C>T (p.Arg1518Trp)
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.4675-12T>G rs769761582
NM_001080522.2(CC2D2A):c.4675-14T>A rs766203266
NM_001080522.2(CC2D2A):c.4682dup (p.Phe1562fs) rs1553845917
NM_001080522.2(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_001080522.2(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700
NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.541-5G>A rs369022150
NM_001080522.2(CC2D2A):c.576T>C (p.Tyr192=) rs536646769
NM_001080522.2(CC2D2A):c.650del (p.Gly217fs)
NM_001080522.2(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001080522.2(CC2D2A):c.717+11T>C rs184351317
NM_001080522.2(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976
NM_001080522.2(CC2D2A):c.880G>C (p.Val294Leu) rs201986486
NM_001080522.2(CC2D2A):c.964del (p.Val322fs)
NM_001080522.2(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878
NM_001082538.2(TCTN1):c.-140A>G rs886048956
NM_001082538.2(TCTN1):c.-84T>C rs886048957
NM_001082538.3(TCTN1):c.-46G>C rs538932401
NM_001082538.3(TCTN1):c.1095T>C (p.His365=) rs767963074
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) rs188817098
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349
NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp) rs572300029
NM_001082538.3(TCTN1):c.1522C>T (p.Leu508Phe) rs1016934113
NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val) rs373723058
NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile) rs776696098
NM_001082538.3(TCTN1):c.220+12G>C rs76843552
NM_001082538.3(TCTN1):c.232T>C (p.Cys78Arg) rs1565956183
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) rs145478892
NM_001082538.3(TCTN1):c.305T>G (p.Phe102Cys)
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455
NM_001082538.3(TCTN1):c.364C>A (p.Gln122Lys) rs886048958
NM_001082538.3(TCTN1):c.473-10T>A rs12307716
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500
NM_001082538.3(TCTN1):c.570A>G (p.Glu190=) rs199584658
NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn) rs370252911
NM_001082538.3(TCTN1):c.699_701TAA[1] (p.Asn235del) rs797046038
NM_001082538.3(TCTN1):c.705C>T (p.Asn235=) rs752181429
NM_001082538.3(TCTN1):c.713-9G>T rs201293727
NM_001082538.3(TCTN1):c.846C>G (p.Val282=) rs368536784
NM_001082538.3(TCTN1):c.890C>T (p.Thr297Met) rs200460700
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=) rs371066430
NM_001134831.2(AHI1):c.*1051_*1054ATTT[1] rs144339517
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1116_*1118TAT[1] rs886061104
NM_001134831.2(AHI1):c.*1288T>C rs886061103
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1426A>T rs886061101
NM_001134831.2(AHI1):c.*1646T>C rs886061100
NM_001134831.2(AHI1):c.*218C>T rs1052502
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.*387T>G rs886061107
NM_001134831.2(AHI1):c.*396_*397dup rs397885237
NM_001134831.2(AHI1):c.*447T>A rs886061106
NM_001134831.2(AHI1):c.*500_*504del rs886061105
NM_001134831.2(AHI1):c.*588A>G rs555215397
NM_001134831.2(AHI1):c.*68C>T rs886061108
NM_001134831.2(AHI1):c.*793A>G rs191324834
NM_001134831.2(AHI1):c.*80C>T rs536580823
NM_001134831.2(AHI1):c.-214C>T rs183265971
NM_001134831.2(AHI1):c.-299G>A rs113052089
NM_001134831.2(AHI1):c.1152-11T>G rs113317693
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1355del (p.Phe452fs) rs1554208431
NM_001134831.2(AHI1):c.1425C>G (p.Ala475=) rs749317327
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)
NM_001134831.2(AHI1):c.1497_1498del (p.Tyr499_Tyr500delinsTer) rs905262279
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_001134831.2(AHI1):c.1674T>G (p.Gly558=) rs750069868
NM_001134831.2(AHI1):c.1677dup (p.Pro560fs) rs1554350503
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632
NM_001134831.2(AHI1):c.1780-14C>T rs2757645
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met) rs780336496
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)
NM_001134831.2(AHI1):c.2106G>A (p.Thr702=) rs1276908141
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761
NM_001134831.2(AHI1):c.2335G>A (p.Asp779Asn)
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.2421G>A (p.Glu807=) rs864622356
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.2492+1G>A
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669
NM_001134831.2(AHI1):c.2624-6A>G rs41288015
NM_001134831.2(AHI1):c.2722G>A (p.Gly908Arg)
NM_001134831.2(AHI1):c.2763T>C (p.His921=) rs886061109
NM_001134831.2(AHI1):c.2765-9T>C rs374852342
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=) rs775305093
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg) rs142704960
NM_001134831.2(AHI1):c.2961+6_2961+21delinsGACTTTTTTAAAGTTTTAAA rs878855030
NM_001134831.2(AHI1):c.2961+6_2961+7insGAC rs780835322
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001134831.2(AHI1):c.2961+9A>T rs201870233
NM_001134831.2(AHI1):c.2962-3T>C rs369713977
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly)
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693
NM_001134831.2(AHI1):c.3426+13G>A rs6914831
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187
NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile) rs184236039
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154
NM_001134831.2(AHI1):c.3589-5T>C rs864622110
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286
NM_001134831.2(AHI1):c.708A>G (p.Lys236=) rs368281930
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987
NM_001134831.2(AHI1):c.72T>C (p.Ser24=) rs73777558
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530
NM_001134831.2(AHI1):c.836del (p.Asp279fs) rs1554214237
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741
NM_001142301.1(TMEM67):c.*1434T>C rs886063178
NM_001142301.1(TMEM67):c.*1653G>A rs544858713
NM_001142301.1(TMEM67):c.*179T>C rs886063174
NM_001142301.1(TMEM67):c.*218T>C rs886063175
NM_001142301.1(TMEM67):c.*300G>A rs886063176
NM_001142301.1(TMEM67):c.*852C>T rs114214029
NM_001142301.1(TMEM67):c.*853G>A rs191740525
NM_001142301.1(TMEM67):c.*941T>C rs112317911
NM_001142301.1(TMEM67):c.*942G>A rs886063177
NM_001142301.1(TMEM67):c.-148C>T rs199708882
NM_001142301.1(TMEM67):c.-165T>C rs767999682
NM_001142301.1(TMEM67):c.-166_-161CTTTCC[3] rs886063171
NM_001142301.1(TMEM67):c.-179-29T>C rs886063170
NM_001142301.1(TMEM67):c.-180+34C>T rs146838062
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001142301.1(TMEM67):c.-62+641G>A rs780823805
NM_001142301.1(TMEM67):c.-99T>C rs115660279
NM_001142301.1(TMEM67):c.1066C>G (p.Leu356Val) rs35765535
NM_001142301.1(TMEM67):c.1075C>T (p.Arg359Trp)
NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys) rs752362727
NM_001142301.1(TMEM67):c.1079G>T (p.Arg360Leu) rs386834183
NM_001142301.1(TMEM67):c.1130dup (p.Pro378fs)
NM_001142301.1(TMEM67):c.1136G>C (p.Arg379Thr)
NM_001142301.1(TMEM67):c.1170-1G>C rs386834185
NM_001142301.1(TMEM67):c.1183C>T (p.Pro395Ser) rs145236803
NM_001142301.1(TMEM67):c.1203C>T (p.Asn401=) rs774288177
NM_001142301.1(TMEM67):c.1268C>A (p.Ser423Tyr) rs114655330
NM_001142301.1(TMEM67):c.1402C>T (p.Arg468Cys) rs747025617
NM_001142301.1(TMEM67):c.1431+5A>T rs863224813
NM_001142301.1(TMEM67):c.1457A>C (p.Tyr486Ser) rs148726767
NM_001142301.1(TMEM67):c.1457A>G (p.Tyr486Cys) rs148726767
NM_001142301.1(TMEM67):c.1531-6_1531-3inv rs1554556213
NM_001142301.1(TMEM67):c.1567A>G (p.Ile523Val) rs3134031
NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg) rs201893408
NM_001142301.1(TMEM67):c.1718-7T>A rs1563472215
NM_001142301.1(TMEM67):c.1885A>G (p.Met629Val)
NM_001142301.1(TMEM67):c.1994T>C (p.Ile665Thr)
NM_001142301.1(TMEM67):c.200C>A (p.Ala67Glu) rs1563679408
NM_001142301.1(TMEM67):c.2056G>A (p.Val686Ile) rs201949664
NM_001142301.1(TMEM67):c.2071_2079+4delinsGG rs1064792983
NM_001142301.1(TMEM67):c.2108G>A (p.Cys703Tyr)
NM_001142301.1(TMEM67):c.2154T>C (p.Asp718=) rs117195541
NM_001142301.1(TMEM67):c.2205G>A (p.Leu735=) rs886038738
NM_001142301.1(TMEM67):c.2255T>C (p.Ile752Thr) rs267607119
NM_001142301.1(TMEM67):c.2313+4T>G rs772449181
NM_001142301.1(TMEM67):c.2313+5G>C rs886063172
NM_001142301.1(TMEM67):c.2327C>G (p.Ala776Gly) rs201393025
NM_001142301.1(TMEM67):c.2411T>C (p.Ile804Thr) rs1563481671
NM_001142301.1(TMEM67):c.2419G>T (p.Val807Phe)
NM_001142301.1(TMEM67):c.2482G>C (p.Glu828Gln) rs878855230
NM_001142301.1(TMEM67):c.2649A>C (p.Thr883=) rs16916221
NM_001142301.1(TMEM67):c.2681G>A (p.Arg894His) rs191759530
NM_001142301.1(TMEM67):c.2685T>C (p.Asn895=) rs369812327
NM_001142301.1(TMEM67):c.268G>A (p.Val90Ile) rs200329273
NM_001142301.1(TMEM67):c.2709A>G (p.Ala903=) rs115967793
NM_001142301.1(TMEM67):c.2732G>T (p.Arg911Ile) rs886063173
NM_001142301.1(TMEM67):c.274T>C (p.Cys92Arg) rs138783896
NM_001142301.1(TMEM67):c.336_337del (p.Gly114fs) rs386834202
NM_001142301.1(TMEM67):c.379A>T (p.Arg127Ter) rs137853108
NM_001142301.1(TMEM67):c.395G>A (p.Arg132His) rs770605718
NM_001142301.1(TMEM67):c.482A>G (p.Asn161Ser) rs775883520
NM_001142301.1(TMEM67):c.538G>A (p.Asp180Asn) rs35793208
NM_001142301.1(TMEM67):c.626+9A>G rs372597584
NM_001142301.1(TMEM67):c.691T>C (p.Ser231Pro) rs864622335
NM_001142301.1(TMEM67):c.803T>C (p.Leu268Ser) rs386834180
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_001142301.1(TMEM67):c.872C>A (p.Thr291Lys) rs863225235
NM_001161454.1(CYB561A3):c.-538_-536del rs369988724
NM_001161454.1(CYB561A3):c.-539G>A rs530037192
NM_001161454.1(CYB561A3):c.-578T>G rs192845534
NM_001161454.1(CYB561A3):c.-707T>G rs886048406
NM_001161454.1(CYB561A3):c.-749T>C rs7120780
NM_001161454.1(CYB561A3):c.-753G>T rs548180077
NM_001161454.1(CYB561A3):c.-763C>T rs775592054
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1104A>G (p.Glu368=) rs77365082
NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu) rs763534380
NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) rs773684291
NM_001165927.1(MKS1):c.1202G>A (p.Arg401His)
NM_001165927.1(MKS1):c.1231C>T (p.Pro411Ser) rs863225210
NM_001165927.1(MKS1):c.1357C>G (p.Arg453Gly)
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001165927.1(MKS1):c.1359G>T (p.Arg453=) rs773269657
NM_001165927.1(MKS1):c.1378-1dup rs762668200
NM_001165927.1(MKS1):c.1378-34_1378-6del rs386834043
NM_001165927.1(MKS1):c.1384C>G (p.Arg462Gly)
NM_001165927.1(MKS1):c.1406G>A (p.Arg469His) rs111315726
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) rs386834044
NM_001165927.1(MKS1):c.1460+9C>T rs1555596804
NM_001165927.1(MKS1):c.1468A>G (p.Met490Val) rs144635826
NM_001165927.1(MKS1):c.1498dup (p.Arg500fs) rs863225204
NM_001165927.1(MKS1):c.1505T>C (p.Val502Ala) rs1567794194
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.1559-2A>T rs863225207
NM_001165927.1(MKS1):c.1579C>T (p.Arg527Cys) rs35464956
NM_001165927.1(MKS1):c.160+2T>C rs375170572
NM_001165927.1(MKS1):c.169C>T (p.Arg57Cys) rs200340896
NM_001165927.1(MKS1):c.183C>G (p.Asp61Glu) rs142813109
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.210G>T (p.Trp70Cys) rs1114167302
NM_001165927.1(MKS1):c.232-179_232-37del rs1555600644
NM_001165927.1(MKS1):c.284A>C (p.Tyr95Ser) rs1440792737
NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) rs202112856
NM_001165927.1(MKS1):c.341G>A (p.Arg114Gln) rs765026950
NM_001165927.1(MKS1):c.351del (p.Tyr118fs) rs863225206
NM_001165927.1(MKS1):c.387G>A (p.Glu129=) rs386834048
NM_001165927.1(MKS1):c.439G>A (p.Glu147Lys) rs200970148
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) rs779953982
NM_001165927.1(MKS1):c.50+258C>T rs369488349
NM_001165927.1(MKS1):c.50+286G>T rs863225205
NM_001165927.1(MKS1):c.50+295C>A rs1031187314
NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) rs200185068
NM_001165927.1(MKS1):c.615-2A>T
NM_001165927.1(MKS1):c.665G>C (p.Ser222Thr)
NM_001165927.1(MKS1):c.71C>T (p.Thr24Ile)
NM_001165927.1(MKS1):c.733G>C (p.Gly245Arg) rs201237547
NM_001165927.1(MKS1):c.737_738insC (p.Glu246fs) rs863225209
NM_001165927.1(MKS1):c.757T>C (p.Tyr253His)
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) rs1555599412
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_001165927.1(MKS1):c.874G>A (p.Asp292Asn) rs750025608
NM_001165927.1(MKS1):c.920G>A (p.Gly307Glu) rs863225208
NM_001165927.1(MKS1):c.929-4G>A rs201137386
NM_001165927.1(MKS1):c.98C>G (p.Pro33Arg) rs1311306088
NM_001173990.3(TMEM216):c.*107G>T rs535550368
NM_001173990.3(TMEM216):c.*21A>G rs111371929
NM_001173990.3(TMEM216):c.*247C>T rs886048413
NM_001173990.3(TMEM216):c.*335G>A rs886048414
NM_001173990.3(TMEM216):c.*372C>T rs565159932
NM_001173990.3(TMEM216):c.*444T>C rs116047887
NM_001173990.3(TMEM216):c.*558G>A rs7607
NM_001173990.3(TMEM216):c.*93T>C rs746881860
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.-2G>T rs7107543
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.230-9G>A rs886048412
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173991.2(TMEM216):c.-242C>T rs756981776
NM_001174150.2(ARL13B):c.*1001A>C rs538413974
NM_001174150.2(ARL13B):c.*1136A>G rs78386221
NM_001174150.2(ARL13B):c.*1654T>C rs886058935
NM_001174150.2(ARL13B):c.*1705T>C rs567211919
NM_001174150.2(ARL13B):c.*1718G>A rs183639595
NM_001174150.2(ARL13B):c.*1775G>A rs563142267
NM_001174150.2(ARL13B):c.*1818_*1822ATATA[1] rs752990716
NM_001174150.2(ARL13B):c.*1826T>C rs548945864
NM_001174150.2(ARL13B):c.*194A>C rs370306318
NM_001174150.2(ARL13B):c.*2009T>C rs538221197
NM_001174150.2(ARL13B):c.*2026T>C rs571746079
NM_001174150.2(ARL13B):c.*2297T>C rs149269561
NM_001174150.2(ARL13B):c.*2316G>A rs757759984
NM_001174150.2(ARL13B):c.*2318G>A rs571764907
NM_001174150.2(ARL13B):c.*2363C>G rs146137797
NM_001174150.2(ARL13B):c.*272C>T rs886058933
NM_001174150.2(ARL13B):c.*2C>T rs377420487
NM_001174150.2(ARL13B):c.*357A>G rs561009587
NM_001174150.2(ARL13B):c.*393T>C rs530141372
NM_001174150.2(ARL13B):c.*703C>T rs75280469
NM_001174150.2(ARL13B):c.*765T>G rs886058934
NM_001174150.2(ARL13B):c.-157T>C rs745658300
NM_001174150.2(ARL13B):c.-234G>T rs114936013
NM_001174150.2(ARL13B):c.-257C>T rs73846074
NM_001174150.2(ARL13B):c.-263C>T rs143828740
NM_001174150.2(ARL13B):c.-40T>G rs886058931
NM_001174150.2(ARL13B):c.-50C>A rs199505618
NM_001174150.2(ARL13B):c.-92G>T rs754026490
NM_001174150.2(ARL13B):c.1006C>T (p.Arg336Trp) rs774235804
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln) rs550306731
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211
NM_001174150.2(ARL13B):c.1045A>G (p.Lys349Glu) rs139063474
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035
NM_001174150.2(ARL13B):c.1270C>T (p.His424Tyr) rs886058932
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=) rs375770842
NM_001174150.2(ARL13B):c.690-10C>T rs373752093
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys) rs139997243
NM_001257159.1(CEP41):c.-144G>A rs10230435
NM_001257159.1(CEP41):c.-178C>A rs10230670
NM_001257159.1(CEP41):c.-178C>T rs10230670
NM_001257159.1(CEP41):c.-243G>A rs542293061
NM_001257159.1(CEP41):c.-244A>T rs886062003
NM_001286577.1(C2CD3):c.184C>T (p.Arg62Ter) rs587777653
NM_001286577.1(C2CD3):c.4951+1G>T rs863225151
NM_001286577.1(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_003611.2(OFD1):c.-359-?_*253+?dup
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932
NM_003611.3(OFD1):c.1277T>C (p.Met426Thr)
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser) rs140561107
NM_003611.3(OFD1):c.1427C>T (p.Ala476Val) rs1189655158
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580
NM_003611.3(OFD1):c.1654+8A>G rs200767363
NM_003611.3(OFD1):c.1654+9C>T rs200007045
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser) rs200465596
NM_003611.3(OFD1):c.1785A>G (p.Lys595=)
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) rs185831378
NM_003611.3(OFD1):c.195A>C (p.Glu65Asp) rs1060500184
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.3(OFD1):c.2030A>T (p.Glu677Val) rs370183911
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) rs148239437
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) rs797045845
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) rs746300545
NM_003611.3(OFD1):c.2177G>A (p.Arg726His)
NM_003611.3(OFD1):c.2188T>A (p.Ser730Thr)
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys) rs1376239977
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) rs752137789
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val)
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile) rs1555900190
NM_003611.3(OFD1):c.2719A>G (p.Arg907Gly) rs1569163323
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2746dup (p.Tyr916fs) rs1569163423
NM_003611.3(OFD1):c.2784_2788TAAAA[1] (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2797G>T (p.Glu933Ter) rs1569164733
NM_003611.3(OFD1):c.2815G>T (p.Glu939Ter) rs1569164829
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661
NM_003611.3(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.3(OFD1):c.3011C>G (p.Ser1004Cys) rs1060500182
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr) rs202103941
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.610A>G (p.Lys204Glu) rs1060500183
NM_003611.3(OFD1):c.69A>G (p.Leu23=) rs1060503868
NM_003611.3(OFD1):c.705A>G (p.Lys235=) rs773888732
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684
NM_003611.3(OFD1):c.89G>A (p.Arg30Gln) rs1060500185
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307
NM_003611.3(OFD1):c.936-2A>G rs199902986
NM_006346.4(PIBF1):c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis) rs1131692160
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_006346.4(PIBF1):c.1669del (p.Leu557fs) rs863225214
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320
NM_014804.3(KIAA0753):c.1271del (p.Pro424fs) rs1555531363
NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter) rs762771340
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882
NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg) rs768663992
NM_015041.3(CLUAP1):c.688C>T (p.Arg230Ter) rs769705065
NM_015156.4(RCOR1):c.446-3C>T rs754404879
NM_015202.4(KIAA0556):c.2674C>T (p.Gln892Ter) rs864309712
NM_015272.5(RPGRIP1L):c.*1035T>C rs763384255
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798
NM_015272.5(RPGRIP1L):c.*1309C>A rs145688896
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086
NM_015272.5(RPGRIP1L):c.*262G>A rs563237818
NM_015272.5(RPGRIP1L):c.*269C>T rs190566840
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732
NM_015272.5(RPGRIP1L):c.*332T>G rs544840421
NM_015272.5(RPGRIP1L):c.*418G>A rs886052090
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319
NM_015272.5(RPGRIP1L):c.*626A>C rs886052089
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008
NM_015272.5(RPGRIP1L):c.*875A>G rs886052088
NM_015272.5(RPGRIP1L):c.*901A>G rs750903762
NM_015272.5(RPGRIP1L):c.*980T>C rs886052087
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151
NM_015272.5(RPGRIP1L):c.-7-10T>C rs886052099
NM_015272.5(RPGRIP1L):c.-9C>T rs779839225
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026
NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021
NM_015272.5(RPGRIP1L):c.1120del (p.His374fs) rs878855006
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) rs886052097
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys)
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198
NM_015272.5(RPGRIP1L):c.1872T>C (p.Ser624=) rs149464542
NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter)
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu)
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile)
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter)
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599
NM_015272.5(RPGRIP1L):c.2173A>G (p.Asn725Asp) rs373201651
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647
NM_015272.5(RPGRIP1L):c.2293_2301del (p.His765_Gln767del) rs1555602657
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr)
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712
NM_015272.5(RPGRIP1L):c.2789A>C (p.Glu930Ala) rs374694596
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs) rs778824093
NM_015272.5(RPGRIP1L):c.2806A>G (p.Ile936Val)
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) rs886052095
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452
NM_015272.5(RPGRIP1L):c.2939del (p.Ile980fs) rs1182447072
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs) rs767018622
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) rs886052094
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177
NM_015272.5(RPGRIP1L):c.3211G>A (p.Glu1071Lys) rs864622470
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr) rs539084201
NM_015272.5(RPGRIP1L):c.3312C>G (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val) rs1436841364
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3617-21dup rs750499169
NM_015272.5(RPGRIP1L):c.3617-2A>G
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile) rs781401167
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849
NM_015272.5(RPGRIP1L):c.883-2A>G
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984
NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter)
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015272.5(RPGRIP1L):c.986_987del (p.Lys329fs)
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079
NM_015681.5(B9D1):c.109G>A (p.Gly37Ser) rs771997194
NM_015681.5(B9D1):c.151T>C (p.Ser51Pro)
NM_015681.5(B9D1):c.181C>T (p.Arg61Trp) rs73980038
NM_015681.5(B9D1):c.237C>G (p.Pro79=) rs149051059
NM_015681.5(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.5(B9D1):c.303A>T (p.Arg101=) rs1555607998
NM_015681.5(B9D1):c.33C>T (p.Leu11=) rs751480715
NM_015681.5(B9D1):c.341+2T>C rs143149764
NM_015681.5(B9D1):c.376T>A (p.Ser126Thr) rs201299216
NM_015681.5(B9D1):c.434C>T (p.Thr145Ile) rs765607415
NM_015681.5(B9D1):c.466C>T (p.Arg156Trp) rs369488112
NM_015681.5(B9D1):c.580T>C (p.Leu194=) rs7212549
NM_015681.5(B9D1):c.95A>G (p.Tyr32Cys) rs771170000
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623
NM_016464.4(TMEM138):c.-226C>G rs545702620
NM_016464.4(TMEM138):c.-239C>T rs146156958
NM_016464.4(TMEM138):c.-255C>T rs112115349
NM_016464.5(TMEM138):c.*228C>G rs536120944
NM_016464.5(TMEM138):c.*264C>G rs886048409
NM_016464.5(TMEM138):c.*407G>C rs886048410
NM_016464.5(TMEM138):c.*92G>C rs372997712
NM_016464.5(TMEM138):c.-157C>G rs779029696
NM_016464.5(TMEM138):c.-164T>C rs886048407
NM_016464.5(TMEM138):c.-169C>T rs553390222
NM_016464.5(TMEM138):c.-24G>A rs116455434
NM_016464.5(TMEM138):c.-71G>A rs199532763
NM_016464.5(TMEM138):c.128+15G>A rs886048408
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) rs200399046
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221
NM_016464.5(TMEM138):c.308G>A (p.Arg103His) rs781769843
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu) rs774141923
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022
NM_016499.5(TMEM216):c.-288G>A rs557559653
NM_016499.5(TMEM216):c.-325A>C rs886048411
NM_016499.5(TMEM216):c.-332T>C rs183785901
NM_017651.4(AHI1):c.-277G>A rs886061113
NM_017651.4(AHI1):c.-284G>A rs886061114
NM_017651.4(AHI1):c.-286C>G rs533416517
NM_017651.4(AHI1):c.-293G>T rs13197384
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_018718.3(CEP41):c.*1056A>C rs574982700
NM_018718.3(CEP41):c.*1357del rs886061999
NM_018718.3(CEP41):c.*1384del rs55776575
NM_018718.3(CEP41):c.*1384dup rs55776575
NM_018718.3(CEP41):c.*1385T>G rs781845516
NM_018718.3(CEP41):c.*1386dup rs886061997
NM_018718.3(CEP41):c.*1411G>T rs886061996
NM_018718.3(CEP41):c.*1579T>C rs554826749
NM_018718.3(CEP41):c.*1859G>T rs73152869
NM_018718.3(CEP41):c.*1931C>T rs17133175
NM_018718.3(CEP41):c.*2041G>A rs73152868
NM_018718.3(CEP41):c.*2159C>T rs886061995
NM_018718.3(CEP41):c.*2194C>T rs886061994
NM_018718.3(CEP41):c.*2386A>G rs886061993
NM_018718.3(CEP41):c.*2389G>A rs73152867
NM_018718.3(CEP41):c.*2482A>T rs189091601
NM_018718.3(CEP41):c.*2605C>T rs886061992
NM_018718.3(CEP41):c.*277A>G rs886062001
NM_018718.3(CEP41):c.*2896G>A rs147207980
NM_018718.3(CEP41):c.*3044A>G rs886061991
NM_018718.3(CEP41):c.*3069T>C rs886061990
NM_018718.3(CEP41):c.*3193C>T rs886061989
NM_018718.3(CEP41):c.*3274G>A rs112007936
NM_018718.3(CEP41):c.*333C>T rs886062000
NM_018718.3(CEP41):c.*3451G>A rs144534675
NM_018718.3(CEP41):c.*3507C>T rs149385617
NM_018718.3(CEP41):c.*3526dup rs3839655
NM_018718.3(CEP41):c.*3741A>T rs532169706
NM_018718.3(CEP41):c.*3765G>T rs138768326
NM_018718.3(CEP41):c.*3887C>G rs62471754
NM_018718.3(CEP41):c.*3965A>G rs781992723
NM_018718.3(CEP41):c.*4007C>T rs782719854
NM_018718.3(CEP41):c.*4037A>G rs7793239
NM_018718.3(CEP41):c.*409A>C rs782042681
NM_018718.3(CEP41):c.*4216C>T rs187549864
NM_018718.3(CEP41):c.*4244C>G rs544508687
NM_018718.3(CEP41):c.*4295G>C rs4728195
NM_018718.3(CEP41):c.*4314T>C rs114939029
NM_018718.3(CEP41):c.*4365G>A rs535299613
NM_018718.3(CEP41):c.*4391G>A rs782450438
NM_018718.3(CEP41):c.*4417G>A rs886061988
NM_018718.3(CEP41):c.*4464T>C rs886061987
NM_018718.3(CEP41):c.*4599A>G rs753024852
NM_018718.3(CEP41):c.*4659C>G rs886061986
NM_018718.3(CEP41):c.*4866C>T rs782719539
NM_018718.3(CEP41):c.*4908G>A rs552988501
NM_018718.3(CEP41):c.*4973C>T rs760160179
NM_018718.3(CEP41):c.*4994T>C rs527933839
NM_018718.3(CEP41):c.*5068G>A rs148856430
NM_018718.3(CEP41):c.*5102G>A rs1990790
NM_018718.3(CEP41):c.*593G>A rs186685101
NM_018718.3(CEP41):c.*680G>A rs146622910
NM_018718.3(CEP41):c.*705G>A rs782543502
NM_018718.3(CEP41):c.*747G>A rs782582354
NM_018718.3(CEP41):c.*805A>G rs145808545
NM_018718.3(CEP41):c.*859G>A rs781930185
NM_018718.3(CEP41):c.-41C>T rs886062002
NM_018718.3(CEP41):c.-5A>C rs2287371
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.3(CEP41):c.208-5A>G rs11765434
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803
NM_018718.3(CEP41):c.422+6C>T rs199678365
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu) rs111688621
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533
NM_019892.6(INPP5E):c.*235A>G rs376604726
NM_019892.6(INPP5E):c.*328T>C rs35763810
NM_019892.6(INPP5E):c.*630G>A rs539039743
NM_019892.6(INPP5E):c.*703A>G rs1128874
NM_019892.6(INPP5E):c.*721C>T rs886063710
NM_019892.6(INPP5E):c.*727C>T rs886063709
NM_019892.6(INPP5E):c.*747T>C rs191248562
NM_019892.6(INPP5E):c.*763G>C rs564573606
NM_019892.6(INPP5E):c.*816A>G rs8413
NM_019892.6(INPP5E):c.*913T>C rs886063708
NM_019892.6(INPP5E):c.*926T>C rs1128877
NM_019892.6(INPP5E):c.*98G>A rs35873563
NM_019892.6(INPP5E):c.-174G>A rs544247720
NM_019892.6(INPP5E):c.-239C>G rs562519905
NM_019892.6(INPP5E):c.-271C>T rs886063714
NM_019892.6(INPP5E):c.-31G>C rs554931078
NM_019892.6(INPP5E):c.-343T>C rs886063715
NM_019892.6(INPP5E):c.-347G>A rs886063716
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740
NM_019892.6(INPP5E):c.1034+3A>T rs1564433976
NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met) rs863225198
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr) rs863225200
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+8C>T rs73566945
NM_019892.6(INPP5E):c.1159+8_1159+9insGGTGGGCGCAGCTGGAGG rs747240016
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) rs863225201
NM_019892.6(INPP5E):c.1176G>A (p.Thr392=) rs528176529
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542
NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro) rs863225202
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile) rs201043370
NM_019892.6(INPP5E):c.1354G>A (p.Val452Met) rs1554793007
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys) rs886063713
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr) rs200837258
NM_019892.6(INPP5E):c.1388-13C>T rs78828148
NM_019892.6(INPP5E):c.1388-5C>T rs187956407
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407
NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr) rs757222534
NM_019892.6(INPP5E):c.1470C>T (p.Asp490=) rs375301475
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509
NM_019892.6(INPP5E):c.1550-14C>T rs181576122
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) rs771866500
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724
NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly) rs863225197
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His) rs121918128
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys) rs1564431175
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662
NM_019892.6(INPP5E):c.1844T>G (p.Leu615Ter) rs1564430716
NM_019892.6(INPP5E):c.1846C>A (p.Leu616Ile) rs1564430711
NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs) rs863225199
NM_019892.6(INPP5E):c.1919T>C (p.Ile640Thr) rs753001340
NM_019892.6(INPP5E):c.1922del (p.Cys641fs) rs1431917892
NM_019892.6(INPP5E):c.197G>A (p.Arg66Gln)
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998
NM_019892.6(INPP5E):c.516G>T (p.Pro172=) rs372551521
NM_019892.6(INPP5E):c.528C>T (p.Ala176=) rs561511490
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser) rs754964359
NM_019892.6(INPP5E):c.554T>A (p.Leu185Gln) rs372412898
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173
NM_019892.6(INPP5E):c.812+3AGGG[3] rs5901103
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_019892.6(INPP5E):c.813-5C>G rs186462782
NM_019892.6(INPP5E):c.813-8C>T rs373176644
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378
NM_020785.2(CC2D2A):c.-212T>C rs886059135
NM_020785.2(CC2D2A):c.-32G>A rs183968785
NM_020785.2(CC2D2A):c.10A>G (p.Arg4Gly) rs758963962
NM_020785.2(CC2D2A):c.230-6C>T rs1861049
NM_020785.2(CC2D2A):c.262C>T (p.Arg88Ter) rs1861050
NM_023073.3(CPLANE1):c.*1318A>G rs145399031
NM_023073.3(CPLANE1):c.*1369C>A rs116197379
NM_023073.3(CPLANE1):c.*18G>T rs200332492
NM_023073.3(CPLANE1):c.*396T>C rs115541718
NM_023073.3(CPLANE1):c.*423C>G rs190089842
NM_023073.3(CPLANE1):c.*441A>C rs7712558
NM_023073.3(CPLANE1):c.*465G>A rs886060570
NM_023073.3(CPLANE1):c.*518T>C rs556117030
NM_023073.3(CPLANE1):c.*641C>T rs116744214
NM_023073.3(CPLANE1):c.*642G>A rs543018376
NM_023073.3(CPLANE1):c.*661T>G rs886060569
NM_023073.3(CPLANE1):c.*807A>G rs78011227
NM_023073.3(CPLANE1):c.*872A>C rs886060568
NM_023073.3(CPLANE1):c.*889A>G rs75549748
NM_023073.3(CPLANE1):c.*94G>T rs886060571
NM_023073.3(CPLANE1):c.-151C>T rs769827950
NM_023073.3(CPLANE1):c.-234G>C rs80164363
NM_023073.3(CPLANE1):c.1116G>A (p.Thr372=) rs551066377
NM_023073.3(CPLANE1):c.1123C>T (p.Pro375Ser) rs774016809
NM_023073.3(CPLANE1):c.1125A>G (p.Pro375=) rs61745362
NM_023073.3(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282
NM_023073.3(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782
NM_023073.3(CPLANE1):c.1554A>T (p.Arg518Ser) rs886060583
NM_023073.3(CPLANE1):c.1680G>A (p.Glu560=) rs749473632
NM_023073.3(CPLANE1):c.1737G>A (p.Ala579=) rs13356183
NM_023073.3(CPLANE1):c.1755A>G (p.Ser585=) rs186970259
NM_023073.3(CPLANE1):c.1809T>C (p.Thr603=) rs115435816
NM_023073.3(CPLANE1):c.1872C>T (p.Ser624=) rs886060582
NM_023073.3(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451
NM_023073.3(CPLANE1):c.2278C>T
NM_023073.3(CPLANE1):c.2428T>G (p.Cys810Gly) rs886060581
NM_023073.3(CPLANE1):c.2558C>A (p.Ala853Asp) rs886060580
NM_023073.3(CPLANE1):c.3090G>A (p.Thr1030=) rs768564404
NM_023073.3(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632
NM_023073.3(CPLANE1):c.3450C>T (p.Phe1150=) rs200449169
NM_023073.3(CPLANE1):c.3595C>T (p.Arg1199Trp) rs374075447
NM_023073.3(CPLANE1):c.361T>C (p.Tyr121His) rs886060587
NM_023073.3(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758
NM_023073.3(CPLANE1):c.378G>A (p.Gly126=) rs73750958
NM_023073.3(CPLANE1):c.3795T>A (p.Val1265=) rs74478954
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028
NM_023073.3(CPLANE1):c.4190-10_4190-9del rs111508546
NM_023073.3(CPLANE1):c.4306C>T (p.Pro1436Ser) rs183021118
NM_023073.3(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950
NM_023073.3(CPLANE1):c.4379G>C (p.Ser1460Thr) rs886060579
NM_023073.3(CPLANE1):c.4403C>G (p.Ser1468Cys) rs150556877
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4719C>T (p.Asp1573=) rs143084362
NM_023073.3(CPLANE1):c.4765C>T (p.Leu1589Phe) rs751890710
NM_023073.3(CPLANE1):c.4954C>T (p.Leu1652=) rs141109938
NM_023073.3(CPLANE1):c.5054T>C (p.Ile1685Thr) rs750439635
NM_023073.3(CPLANE1):c.5152A>G (p.Ile1718Val) rs886060578
NM_023073.3(CPLANE1):c.523A>G (p.Thr175Ala) rs886060586
NM_023073.3(CPLANE1):c.5311T>C (p.Tyr1771His) rs748355456
NM_023073.3(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186
NM_023073.3(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778
NM_023073.3(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949
NM_023073.3(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173
NM_023073.3(CPLANE1):c.5593A>C (p.Asn1865His) rs199524299
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_023073.3(CPLANE1):c.5738-6C>T rs148634159
NM_023073.3(CPLANE1):c.5900+7G>T rs78315844
NM_023073.3(CPLANE1):c.5901-3T>C rs10805625
NM_023073.3(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326
NM_023073.3(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147
NM_023073.3(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911
NM_023073.3(CPLANE1):c.6125A>C (p.Glu2042Ala) rs766565364
NM_023073.3(CPLANE1):c.626A>G (p.Lys209Arg) rs770630520
NM_023073.3(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652
NM_023073.3(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024
NM_023073.3(CPLANE1):c.6456C>T (p.Asn2152=) rs186460995
NM_023073.3(CPLANE1):c.662T>C (p.Val221Ala) rs370118778
NM_023073.3(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149
NM_023073.3(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192
NM_023073.3(CPLANE1):c.7095A>G (p.Pro2365=) rs886060577
NM_023073.3(CPLANE1):c.7099A>G (p.Lys2367Glu) rs778278672
NM_023073.3(CPLANE1):c.7234-7C>G rs141575785
NM_023073.3(CPLANE1):c.7298T>C (p.Leu2433Pro) rs372655878
NM_023073.3(CPLANE1):c.7331G>A (p.Gly2444Glu) rs751548147
NM_023073.3(CPLANE1):c.7360G>A (p.Glu2454Lys) rs867750018
NM_023073.3(CPLANE1):c.7417G>A (p.Glu2473Lys) rs886060576
NM_023073.3(CPLANE1):c.7438dup (p.Arg2480fs) rs886060575
NM_023073.3(CPLANE1):c.7478G>T (p.Arg2493Leu) rs183942272
NM_023073.3(CPLANE1):c.7588+8T>C rs377295986
NM_023073.3(CPLANE1):c.7596A>G (p.Leu2532=) rs201502145
NM_023073.3(CPLANE1):c.765A>C (p.Gly255=) rs117995360
NM_023073.3(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518
NM_023073.3(CPLANE1):c.7860G>A (p.Gln2620=) rs750429337
NM_023073.3(CPLANE1):c.7866C>T (p.Ser2622=) rs141486731
NM_023073.3(CPLANE1):c.7901A>G (p.His2634Arg) rs373755833
NM_023073.3(CPLANE1):c.792T>C (p.Asp264=) rs886060585
NM_023073.3(CPLANE1):c.7930G>C (p.Val2644Leu) rs772274656
NM_023073.3(CPLANE1):c.8035C>T (p.Arg2679Trp) rs142792453
NM_023073.3(CPLANE1):c.8124C>T (p.Asp2708=) rs114126795
NM_023073.3(CPLANE1):c.8182C>A (p.Pro2728Thr) rs77014998
NM_023073.3(CPLANE1):c.8212-15G>A rs74881219
NM_023073.3(CPLANE1):c.8352T>C (p.Thr2784=) rs760623510
NM_023073.3(CPLANE1):c.8377G>C (p.Glu2793Gln) rs886060574
NM_023073.3(CPLANE1):c.8471-3del rs34646696
NM_023073.3(CPLANE1):c.8501+8_8501+12del rs763664569
NM_023073.3(CPLANE1):c.8502-3A>T rs58401892
NM_023073.3(CPLANE1):c.8508A>G (p.Ser2836=) rs886060573
NM_023073.3(CPLANE1):c.8512C>T (p.His2838Tyr) rs201404524
NM_023073.3(CPLANE1):c.8516C>T (p.Pro2839Leu) rs147426388
NM_023073.3(CPLANE1):c.8549A>G (p.Asp2850Gly) rs144427399
NM_023073.3(CPLANE1):c.8607A>G (p.Thr2869=) rs16903514
NM_023073.3(CPLANE1):c.8668G>C (p.Asp2890His) rs761880579
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_023073.3(CPLANE1):c.8854A>G (p.Arg2952Gly) rs116198390
NM_023073.3(CPLANE1):c.8931A>G (p.Ser2977=) rs141014620
NM_023073.3(CPLANE1):c.8976C>G (p.Pro2992=) rs16903511
NM_023073.3(CPLANE1):c.9090G>A (p.Pro3030=) rs371595122
NM_023073.3(CPLANE1):c.9101A>G (p.His3034Arg) rs547370426
NM_023073.3(CPLANE1):c.9184G>A (p.Gly3062Arg) rs7702892
NM_023073.3(CPLANE1):c.9412C>G (p.Leu3138Val) rs886060572
NM_023073.3(CPLANE1):c.94G>A (p.Val32Ile) rs73750959
NM_023073.3(CPLANE1):c.959T>C (p.Ile320Thr) rs886060584
NM_024753.4(TTC21B):c.-107C>T rs545898884
NM_024753.4(TTC21B):c.-145G>A rs111867313
NM_024753.4(TTC21B):c.-75A>C rs886055032
NM_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.4(TTC21B):c.-89C>G rs868157832
NM_024753.4(TTC21B):c.-91T>C rs772121352
NM_024753.4(TTC21B):c.-94C>T rs563836188
NM_024753.5(TTC21B):c.*105G>A rs74548052
NM_024753.5(TTC21B):c.*1087A>T rs150328867
NM_024753.5(TTC21B):c.*1105G>T rs6756388
NM_024753.5(TTC21B):c.*1123dup rs886055020
NM_024753.5(TTC21B):c.*246G>A rs759810831
NM_024753.5(TTC21B):c.*419C>A rs886055024
NM_024753.5(TTC21B):c.*451G>C rs886055023
NM_024753.5(TTC21B):c.*460T>C rs537286454
NM_024753.5(TTC21B):c.*473C>G rs763021259
NM_024753.5(TTC21B):c.*516C>T rs185578095
NM_024753.5(TTC21B):c.*517G>A rs77199262
NM_024753.5(TTC21B):c.*531A>G rs56115495
NM_024753.5(TTC21B):c.*540T>C rs534739269
NM_024753.5(TTC21B):c.*544A>G rs565605248
NM_024753.5(TTC21B):c.*593G>A rs886055022
NM_024753.5(TTC21B):c.*642C>T rs547612425
NM_024753.5(TTC21B):c.*656G>A rs180737925
NM_024753.5(TTC21B):c.*680C>T rs746664114
NM_024753.5(TTC21B):c.*730A>C rs886055021
NM_024753.5(TTC21B):c.*847A>C rs138656848
NM_024753.5(TTC21B):c.*878A>G rs62177807
NM_024753.5(TTC21B):c.*910C>T rs745335688
NM_024753.5(TTC21B):c.-16C>G rs886055030
NM_024753.5(TTC21B):c.-17C>T rs572065013
NM_024753.5(TTC21B):c.-18C>T rs187707893
NM_024753.5(TTC21B):c.-64G>A rs886055031
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn) rs142887208
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) rs778812789
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=) rs573290536
NM_024753.5(TTC21B):c.1609T>C (p.Leu537=) rs200916824
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=) rs145926679
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln) rs377128320
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) rs375721812
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) rs368202285
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588
NM_024753.5(TTC21B):c.2211+13A>G rs73969727
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=) rs570679271
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989
NM_024753.5(TTC21B):c.2622T>G (p.Asp874Glu) rs886055026
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn) rs146201603
NM_024753.5(TTC21B):c.2901C>G (p.Asp967Glu) rs886055025
NM_024753.5(TTC21B):c.3042A>G (p.Lys1014=) rs755454992
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3873+10T>A rs779470575
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) rs184586093
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) rs147540469
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) rs568969576
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273
NM_024753.5(TTC21B):c.63T>C (p.His21=) rs886055029
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln) rs886055027
NM_024753.5(TTC21B):c.795+3A>G rs753275145
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) rs886055028
NM_024809.5(TCTN2):c.*155G>A rs12811354
NM_024809.5(TCTN2):c.*166T>G rs886049057
NM_024809.5(TCTN2):c.*258G>C rs540710300
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_024809.5(TCTN2):c.*412T>C rs112525270
NM_024809.5(TCTN2):c.*45G>A rs142969969
NM_024809.5(TCTN2):c.*468C>T rs7398298
NM_024809.5(TCTN2):c.*587C>T rs548909798
NM_024809.5(TCTN2):c.*87C>T rs113292231
NM_024809.5(TCTN2):c.-15C>T rs575728856
NM_024809.5(TCTN2):c.-2G>A rs141768405
NM_024809.5(TCTN2):c.-55C>A rs78846567
NM_024809.5(TCTN2):c.-95G>A rs7980060
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_024809.5(TCTN2):c.1234+5C>G rs201382614
NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter) rs863225221
NM_024809.5(TCTN2):c.1393+7C>T rs7298440
NM_024809.5(TCTN2):c.1505+3G>C rs111574617
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547
NM_024809.5(TCTN2):c.1626del (p.Asp543fs) rs863225220
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) rs778418417
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) rs201834126
NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter) rs786204788
NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg) rs886049056
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562
NM_024809.5(TCTN2):c.2066G>C (p.Trp689Ser) rs771335558
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301
NM_024809.5(TCTN2):c.360C>G (p.Leu120=) rs142452647
NM_024809.5(TCTN2):c.367dup (p.Leu123fs) rs748951253
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) rs768824874
NM_024809.5(TCTN2):c.524dup (p.Leu175fs) rs760034947
NM_024809.5(TCTN2):c.564+3A>C rs761089886
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033
NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs) rs915737037
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) rs774785140
NM_024809.5(TCTN2):c.688G>A (p.Asp230Asn) rs987899301
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216
NM_024809.5(TCTN2):c.731C>T (p.Thr244Ile) rs760376471
NM_024809.5(TCTN2):c.76del (p.Asp26fs) rs863225222
NM_024809.5(TCTN2):c.76dup (p.Asp26fs) rs863225222
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556
NM_024809.5(TCTN2):c.813A>C (p.Ala271=) rs886049054
NM_024809.5(TCTN2):c.83-4C>T rs73416299
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100
NM_024809.5(TCTN2):c.891+7G>A rs7313032
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) rs886049055
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131
NM_025114.3(CEP290):c.-118C>G rs886049887
NM_025114.3(CEP290):c.-147A>T rs753567406
NM_025114.3(CEP290):c.-208C>T rs551070690
NM_025114.3(CEP290):c.-235T>G rs569632834
NM_025114.3(CEP290):c.-295T>C rs374616539
NM_025114.3(CEP290):c.-33G>T rs139415563
NM_025114.3(CEP290):c.-38G>C rs886049886
NM_025114.3(CEP290):c.-41C>T rs759820573
NM_025114.3(CEP290):c.-96C>T rs528270888
NM_025114.3(CEP290):c.1066-1G>A rs965522059
NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.3(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.3(CEP290):c.1345A>G (p.Lys449Glu) rs747463477
NM_025114.3(CEP290):c.1359G>A (p.Ser453=) rs779195306
NM_025114.3(CEP290):c.1360-4T>G rs200328638
NM_025114.3(CEP290):c.1387G>A (p.Val463Ile) rs558414868
NM_025114.3(CEP290):c.1390G>C (p.Glu464Gln) rs1437841365
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) rs386834149
NM_025114.3(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056
NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) rs886043303
NM_025114.3(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.3(CEP290):c.1522+6C>T rs148446546
NM_025114.3(CEP290):c.1523-1G>T rs1192112844
NM_025114.3(CEP290):c.1549T>C (p.Leu517=) rs752942122
NM_025114.3(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.3(CEP290):c.1623+10G>A rs377529198
NM_025114.3(CEP290):c.1623+10G>T rs377529198
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1665A>T (p.Lys555Asn) rs374824892
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.1716A>G (p.Leu572=) rs372349042
NM_025114.3(CEP290):c.1729C>T (p.Leu577=) rs201295052
NM_025114.3(CEP290):c.180+1G>A rs758593134
NM_025114.3(CEP290):c.1908A>T (p.Lys636Asn) rs199747962
NM_025114.3(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter) rs780225183
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.204G>A (p.Leu68=) rs780930630
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.3(CEP290):c.2098C>T (p.His700Tyr) rs369104382
NM_025114.3(CEP290):c.2112delA (p.Val705Leufs) rs863225183
NM_025114.3(CEP290):c.2174A>C (p.Glu725Ala) rs375038986
NM_025114.3(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.3(CEP290):c.2217+3G>A rs765291878
NM_025114.3(CEP290):c.2217+6A>G rs139027723
NM_025114.3(CEP290):c.2268G>A (p.Ser756=) rs2468255
NM_025114.3(CEP290):c.226G>A (p.Ala76Thr) rs373913704
NM_025114.3(CEP290):c.2367+4T>C rs1413934261
NM_025114.3(CEP290):c.2423A>G (p.Tyr808Cys)
NM_025114.3(CEP290):c.2447G>A (p.Arg816His) rs768448895
NM_025114.3(CEP290):c.2473G>A (p.Glu825Lys)
NM_025114.3(CEP290):c.2479C>G (p.Leu827Val)
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.3(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.3(CEP290):c.2861A>G (p.Asp954Gly) rs886049882
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3024G>A (p.Glu1008=) rs1227765663
NM_025114.3(CEP290):c.3104-2A>G rs773386777
NM_025114.3(CEP290):c.3104-5T>G
NM_025114.3(CEP290):c.3132G>T (p.Lys1044Asn)
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.31A>G (p.Met11Val) rs185939120
NM_025114.3(CEP290):c.3205_3206delGAinsTG (p.Glu1069Ter) rs1555212150
NM_025114.3(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620
NM_025114.3(CEP290):c.3309+3_3309+4dupTT rs886049881
NM_025114.3(CEP290):c.3342G>A (p.Val1114=) rs754811220
NM_025114.3(CEP290):c.341G>A (p.Arg114His) rs150296134
NM_025114.3(CEP290):c.3442C>G (p.Leu1148Val) rs372190684
NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3486C>T (p.Ala1162=) rs376583223
NM_025114.3(CEP290):c.3574-15T>A rs565414938
NM_025114.3(CEP290):c.3574-9delT rs10717563
NM_025114.3(CEP290):c.3594G>A (p.Ser1198=) rs376645523
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.3787C>A (p.Leu1263Met) rs370395204
NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.3(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712
NM_025114.3(CEP290):c.384T>C (p.Asp128=) rs76267039
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022
NM_025114.3(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.3(CEP290):c.3955T>C (p.Leu1319=) rs182851622
NM_025114.3(CEP290):c.4045A>G (p.Met1349Val) rs923112337
NM_025114.3(CEP290):c.4064G>A (p.Arg1355His) rs548558619
NM_025114.3(CEP290):c.4068T>G (p.Leu1356=) rs377227262
NM_025114.3(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.3(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.4151G>A (p.Arg1384His) rs143152287
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.3(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047
NM_025114.3(CEP290):c.4276_4277delAA (p.Asn1426Terfs) rs863224523
NM_025114.3(CEP290):c.4288A>C (p.Asn1430His) rs749261915
NM_025114.3(CEP290):c.4293G>A (p.Ala1431=) rs377614744
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.442-11delT rs199511358
NM_025114.3(CEP290):c.442-11dupT rs199511358
NM_025114.3(CEP290):c.442-12_442-11dupTT rs199511358
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4438-318_7243del
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs) rs780624853
NM_025114.3(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_025114.3(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.3(CEP290):c.4754A>G (p.His1585Arg) rs199826787
NM_025114.3(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.3(CEP290):c.4813-2A>G rs369523378
NM_025114.3(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708
NM_025114.3(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.3(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.3(CEP290):c.4962_4963delAA (p.Glu1656Asnfs) rs764309755
NM_025114.3(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179
NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs) rs756302731
NM_025114.3(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655
NM_025114.3(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.3(CEP290):c.5055G>A (p.Ala1685=) rs73192874
NM_025114.3(CEP290):c.508A>T (p.Lys170Ter)
NM_025114.3(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.3(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207
NM_025114.3(CEP290):c.5158A>G (p.Thr1720Ala) rs1555205391
NM_025114.3(CEP290):c.5167A>G (p.Met1723Val) rs542400806
NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5212G>T (p.Glu1738Ter) rs1555205328
NM_025114.3(CEP290):c.5227-14delT rs747878752
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.523C>A (p.Gln175Lys) rs202159966
NM_025114.3(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117
NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5338G>A (p.Val1780Ile) rs368492668
NM_025114.3(CEP290):c.5414del (p.Thr1807Glnfs)
NM_025114.3(CEP290):c.5434_5435delGA (p.Glu1812Lysfs) rs757609119
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.5512dup (p.Arg1838Lysfs) rs1565822519
NM_025114.3(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678
NM_025114.3(CEP290):c.5587-8T>C rs886049878
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5709+12A>G rs371010287
NM_025114.3(CEP290):c.5733G>T (p.Arg1911Ser) rs1565813077
NM_025114.3(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236
NM_025114.3(CEP290):c.5813_5817delCTTTA (p.Thr1938Asnfs) rs62638180
NM_025114.3(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.3(CEP290):c.5931_5935delACGAG (p.Arg1978Phefs) rs1555201796
NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.3(CEP290):c.6358-1G>A rs766670248
NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.3(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017
NM_025114.3(CEP290):c.6522+12dupT rs11405846
NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr) rs535765861
NM_025114.3(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025114.3(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.3(CEP290):c.6862del (p.Asn2290Ilefs)
NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs) rs587783017
NM_025114.3(CEP290):c.6870T>C (p.Asn2290=) rs572443869
NM_025114.3(CEP290):c.7007G>A (p.Gly2336Asp) rs863224794
NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.3(CEP290):c.7209+11_7209+14delATTA rs750259100
NM_025114.3(CEP290):c.7209+7T>G rs745813087
NM_025114.3(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.3(CEP290):c.814G>A (p.Asp272Asn) rs866480852
NM_025114.3(CEP290):c.828delA (p.Glu277Lysfs) rs1555225566
NM_025114.3(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025114.3(CEP290):c.853-12_853-11insG rs71082425
NM_025114.3(CEP290):c.942+6T>G rs886049884
NM_025114.3(CEP290):c.943-4C>T rs199770158
NM_025114.3(CEP290):c.943-8A>T rs200729812
NM_025114.3(CEP290):c.974T>C (p.Ile325Thr)
NM_025114.3:c.1072C>T
NM_025114.3:c.1536G>T
NM_025114.3:c.1645C>T
NM_025114.3:c.166C>T
NM_025114.3:c.2546A>T
NM_025114.3:c.322C>T
NM_025114.3:c.3418G>A
NM_025114.3:c.3605A>G
NM_025114.3:c.3802C>T
NM_025114.3:c.4028delA rs1213286417
NM_025114.3:c.4040G>A
NM_025114.3:c.4186C>T
NM_025114.3:c.4383G>T
NM_025114.3:c.5083G>T
NM_025114.3:c.5228C>T
NM_025114.3:c.5445_5448delAACT
NM_025114.3:c.5728_5731delATTA
NM_025114.3:c.5777G>C
NM_025114.3:c.6807T>G
NM_025114.3:c.7073_7077dupTAATC
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_030578.4(B9D2):c.107T>C (p.Leu36Pro) rs757863670
NM_030578.4(B9D2):c.150G>C (p.Gln50His) rs747988749
NM_030578.4(B9D2):c.156_163del (p.Asp53fs) rs786204189
NM_030578.4(B9D2):c.163_164delinsAA (p.Ala55Asn) rs1555756363
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.4(B9D2):c.346C>T (p.Leu116=) rs1555755825
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) rs750436680
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser) rs1057519442
NM_175876.5(EXOC8):c.794A>G (p.Glu265Gly) rs483352868
NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg) rs556808514
NM_198525.3(KIF7):c.3986_3997del (p.Arg1329_Ser1332del) rs780942335
NM_206933.3(USH2A):c.14027A>G (p.Gln4676Arg) rs397517987
NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.