ClinVar Miner

List of variants studied for polydactyly-syndactyly-triphalangism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1142
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HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.1623T>C (p.Asp541=) rs10769215 0.99630
NM_002334.4(LRP4):c.1638A>G (p.Lys546=) rs10838631 0.98127
NM_000168.6(GLI3):c.1356+11G>C rs846273 0.97240
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548 0.83974
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) rs846266 0.64495
NM_002334.4(LRP4):c.*561T>C rs3829940 0.64017
NM_198525.3(KIF7):c.1788+13T>C rs1110060 0.59982
NM_198525.3(KIF7):c.3112-11_3112-10insCT rs35820949 0.57089
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_198525.3(KIF7):c.2896-14G>A rs9672296 0.53577
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) rs6485702 0.50674
NM_153240.4(NPHP3):c.-69A>G rs13099099 0.49619
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly) rs2306029 0.42236
NM_198525.3(KIF7):c.*344T>C rs1054435 0.41372
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008 0.37956
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155 0.37946
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814 0.36518
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_000168.6(GLI3):c.*428C>T rs2051935 0.35079
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) rs929387 0.31467
NM_000168.6(GLI3):c.*2757C>T rs3823720 0.25562
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_002334.3(LRP4):c.-188C>T rs111383894 0.14671
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=) rs2290883 0.12958
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val) rs2306033 0.12951
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_000168.6(GLI3):c.*741A>G rs114615136 0.08538
NM_017777.4(MKS1):c.*75C>T rs35184412 0.08455
NM_017777.4(MKS1):c.*414C>T rs2302313 0.08215
NM_000165.5(GJA1):c.*1322A>T rs12212865 0.08165
NM_000168.6(GLI3):c.*265A>C rs201493390 0.08079
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850 0.07677
NM_000168.6(GLI3):c.537C>T (p.His179=) rs3898405 0.07173
NM_000168.6(GLI3):c.4071C>T (p.Tyr1357=) rs34089404 0.07043
NM_000165.5(GJA1):c.*968T>C rs111878880 0.06674
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser) rs7926667 0.05542
NM_002334.4(LRP4):c.1695G>A (p.Glu565=) rs61741501 0.05533
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_002334.4(LRP4):c.813G>A (p.Thr271=) rs879721 0.05245
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_002334.3(LRP4):c.-237G>C rs565737367 0.04762
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_002334.4(LRP4):c.129C>G (p.Thr43=) rs61742974 0.04439
NM_017777.4(MKS1):c.*472C>G rs17174788 0.04345
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_000168.6(GLI3):c.*248T>A rs61091998 0.04248
NM_000168.6(GLI3):c.*1296T>C rs77126593 0.04211
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_002334.4(LRP4):c.*261C>A rs77376145 0.03985
NM_198525.3(KIF7):c.-5T>G rs62021460 0.03972
NM_000165.5(GJA1):c.*173G>A rs72548744 0.03954
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_000168.6(GLI3):c.*726A>G rs118157739 0.03505
NM_000168.6(GLI3):c.*30G>T rs77886553 0.03497
NM_000168.6(GLI3):c.*655A>G rs77197280 0.03496
NM_000168.6(GLI3):c.*136T>A rs78794712 0.03493
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414 0.03460
NM_000168.6(GLI3):c.*1087A>T rs76023240 0.03456
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470 0.03456
NM_000168.6(GLI3):c.*847C>A rs116986447 0.03453
NM_000168.6(GLI3):c.-42-11G>C rs80019165 0.03314
NM_002334.4(LRP4):c.1501A>C (p.Asn501His) rs72897663 0.03190
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_002334.4(LRP4):c.4837+10C>T rs74806847 0.02807
NM_002334.4(LRP4):c.*1825_*1826del rs147363340 0.02795
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956 0.02787
NM_000168.6(GLI3):c.-94C>G rs112754065 0.02747
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_002334.4(LRP4):c.*929C>A rs79910473 0.02450
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=) rs61733844 0.02133
NM_002334.4(LRP4):c.*2104C>G rs7928628 0.02130
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220 0.02077
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_000168.6(GLI3):c.*249A>T rs6972450 0.02026
NM_001142301.1(TMEM67):c.-200G>C rs79833026 0.01971
NM_198525.3(KIF7):c.*139C>T rs8037511 0.01904
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_153704.6(TMEM67):c.*19T>C rs55850117 0.01744
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp) rs118009068 0.01699
NM_000168.6(GLI3):c.*2019C>T rs73318085 0.01690
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_000168.6(GLI3):c.*1042dup rs200076691 0.01529
NM_000168.5(GLI3):c.*3392G>T rs115519476 0.01463
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119 0.01377
NM_000168.6(GLI3):c.*1297G>A rs116029585 0.01373
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_000168.6(GLI3):c.3084C>T (p.Ser1028=) rs79703713 0.01303
NM_004465.1(FGF10):c.*5A>T rs111763965 0.01295
NM_017777.4(MKS1):c.1273+11G>A rs16942826 0.01295
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_017777.4(MKS1):c.-18C>G rs116514023 0.01231
NM_002334.4(LRP4):c.*1445A>G rs75558883 0.01226
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280 0.01186
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_153704.6(TMEM67):c.*852C>T rs114214029 0.01103
NM_024809.5(TCTN2):c.*45G>A rs142969969 0.01053
NM_000168.6(GLI3):c.*3262A>G rs73096902 0.00963
NM_002334.4(LRP4):c.5010G>A (p.Val1670=) rs111426027 0.00936
NM_000165.5(GJA1):c.*243A>G rs139128953 0.00907
NM_198525.3(KIF7):c.2271C>T (p.Ala757=) rs35451920 0.00897
NM_025114.4(CEP290):c.-33G>T rs139415563 0.00894
NM_198525.3(KIF7):c.1189G>A (p.Ala397Thr) rs535621809 0.00887
NM_000168.6(GLI3):c.1029-11C>T rs116195563 0.00867
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_002334.4(LRP4):c.*54G>A rs147627264 0.00852
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=) rs61741227 0.00828
NM_002334.4(LRP4):c.*1017C>T rs10838623 0.00823
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_198525.3(KIF7):c.-52G>T rs116805116 0.00808
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=) rs137993810 0.00730
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) rs61744209 0.00677
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001378615.1(CC2D2A):c.-18-2673G>A rs183968785 0.00636
NM_001173990.3(TMEM216):c.*21A>G rs111371929 0.00615
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_017777.4(MKS1):c.*322G>T rs185405908 0.00571
NM_015272.5(RPGRIP1L):c.*491C>G rs35669682 0.00564
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837 0.00552
NM_000168.6(GLI3):c.*2715G>A rs193192167 0.00534
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905 0.00522
NM_000168.6(GLI3):c.2802G>A (p.Ala934=) rs61730503 0.00520
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351 0.00514
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_000168.6(GLI3):c.*2117A>G rs185099021 0.00491
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_198525.3(KIF7):c.294A>G (p.Ser98=) rs145049849 0.00465
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_002334.4(LRP4):c.300G>A (p.Ser100=) rs61745166 0.00459
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793 0.00439
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251 0.00424
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_000168.6(GLI3):c.*911A>G rs187664615 0.00395
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=) rs61746928 0.00385
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_017777.3(MKS1):c.-64T>C rs372127517 0.00325
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_000165.5(GJA1):c.-67C>G rs111581053 0.00310
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg) rs138354681 0.00308
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) rs150777198 0.00307
NM_001378615.1(CC2D2A):c.-87G>A rs145443888 0.00305
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_000168.6(GLI3):c.*1080G>A rs58924064 0.00285
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_000168.6(GLI3):c.*603A>G rs182121145 0.00276
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235 0.00265
NM_198525.3(KIF7):c.2192-13C>T rs201251064 0.00262
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_000168.6(GLI3):c.1028+15G>A rs116842918 0.00250
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_198525.3(KIF7):c.*37G>A rs147387691 0.00238
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_000168.6(GLI3):c.*835G>A rs73688609 0.00225
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) rs61749083 0.00221
NM_002334.4(LRP4):c.1048+7G>T rs148557097 0.00220
NM_002334.4(LRP4):c.*1151C>T rs116705878 0.00213
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535 0.00213
NM_000165.5(GJA1):c.*214G>A rs549064986 0.00212
NM_002334.4(LRP4):c.1787A>G (p.His596Arg) rs138878258 0.00211
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040 0.00207
NM_001173990.3(TMEM216):c.*107G>T rs535550368 0.00203
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_015272.5(RPGRIP1L):c.*1385A>G rs150194508 0.00201
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_153704.6(TMEM67):c.*1653G>A rs544858713 0.00196
NM_015272.5(RPGRIP1L):c.*1461A>T rs184079732 0.00195
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747 0.00194
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047 0.00193
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 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_000168.6(GLI3):c.*1691C>T rs181261768 0.00174
NM_002334.4(LRP4):c.*1627A>G rs544836196 0.00160
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_000168.6(GLI3):c.*2517G>A rs568690074 0.00153
NM_002334.4(LRP4):c.*2054C>T rs151112380 0.00152
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155 0.00150
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=) rs138196132 0.00150
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) rs145726393 0.00150
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279 0.00145
NM_015272.5(RPGRIP1L):c.-9C>T rs779839225 0.00143
NM_000168.6(GLI3):c.*2666G>A rs117987369 0.00142
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu) rs150248985 0.00138
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_153704.6(TMEM67):c.*853G>A rs191740525 0.00133
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_002334.4(LRP4):c.4674C>T (p.His1558=) rs61742905 0.00127
NM_002334.4(LRP4):c.639C>T (p.Asp213=) rs144974139 0.00124
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635 0.00120
NM_000168.6(GLI3):c.*1464A>G rs566417596 0.00119
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976 0.00108
NM_198525.3(KIF7):c.2861C>T (p.Thr954Met) rs141463861 0.00108
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867 0.00104
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_001378615.1(CC2D2A):c.-47G>A rs778112215 0.00100
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) rs61742871 0.00098
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210 0.00094
NM_000168.6(GLI3):c.*943G>A rs139782938 0.00092
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537 0.00086
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) rs151234321 0.00086
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00086
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929 0.00084
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_000168.6(GLI3):c.*3309C>A rs553151369 0.00081
NM_015272.5(RPGRIP1L):c.*1510G>A rs140374059 0.00079
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242 0.00076
NM_002334.4(LRP4):c.2868G>A (p.Glu956=) rs145460760 0.00076
NM_002334.4(LRP4):c.5520T>C (p.His1840=) rs144350829 0.00075
NM_000165.5(GJA1):c.*119T>C rs72548742 0.00071
NM_015272.5(RPGRIP1L):c.*1309C>A rs145688896 0.00068
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_000168.6(GLI3):c.1647+13G>A rs149955824 0.00066
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_198525.3(KIF7):c.*238C>T rs555507825 0.00064
NM_000165.5(GJA1):c.*498G>A rs575593821 0.00063
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln) rs151317163 0.00062
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_000168.6(GLI3):c.*2620C>G rs56158069 0.00058
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_198525.3(KIF7):c.2077G>T (p.Val693Phe) rs550326630 0.00058
NM_001378615.1(CC2D2A):c.*45G>C rs372449768 0.00057
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475 0.00057
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_153240.4(NPHP3):c.-70C>T rs886058006 0.00056
NM_153704.6(TMEM67):c.*690T>A rs535033320 0.00056
NM_000168.6(GLI3):c.*2357T>A rs562705224 0.00055
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_017777.4(MKS1):c.1498A>G (p.Met500Val) rs144635826 0.00054
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_002334.4(LRP4):c.676+13G>A rs200963011 0.00052
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242 0.00052
NM_000165.5(GJA1):c.1128G>A (p.Arg376=) rs145215218 0.00051
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151 0.00048
NM_000168.6(GLI3):c.1959G>A (p.Pro653=) rs148226583 0.00046
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152 0.00046
NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val) rs148865136 0.00045
NM_025114.3(CEP290):c.-235T>G rs569632834 0.00045
NM_000165.5(GJA1):c.*285A>T rs72548748 0.00042
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001378615.1(CC2D2A):c.*1T>A rs199945435 0.00042
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu) rs150681693 0.00042
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_017777.4(MKS1):c.*134C>T rs34224064 0.00041
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_153704.6(TMEM67):c.*941T>C rs112317911 0.00041
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578 0.00039
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732 0.00039
NM_000168.6(GLI3):c.*1623A>G rs183853326 0.00038
NM_000168.6(GLI3):c.3984C>T (p.Leu1328=) rs148940743 0.00038
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009 0.00037
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_017777.4(MKS1):c.515+12C>T rs372527189 0.00036
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln) rs138993311 0.00035
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00034
NM_002334.4(LRP4):c.*1727G>A rs558730059 0.00034
NM_001378615.1(CC2D2A):c.3399-15T>C rs181612746 0.00033
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712 0.00033
NM_000168.6(GLI3):c.3015C>T (p.Ala1005=) rs200965852 0.00032
NM_002334.4(LRP4):c.*921A>C rs771309941 0.00032
NM_015272.5(RPGRIP1L):c.*1033G>A rs145688122 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_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=) rs144169411 0.00031
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_198525.3(KIF7):c.2049G>A (p.Gly683=) rs141856439 0.00031
NM_198525.3(KIF7):c.3665-5G>A rs79532879 0.00031
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_000165.5(GJA1):c.*1252A>G rs976353489 0.00029
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=) rs182369056 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_002334.4(LRP4):c.*2080T>C rs76159791 0.00028
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met) rs369476930 0.00027
NM_198525.3(KIF7):c.*92C>T rs549330096 0.00027
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 0.00026
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237 0.00026
NM_002334.4(LRP4):c.*379C>T rs561326679 0.00026
NM_015272.5(RPGRIP1L):c.*851C>A rs138437010 0.00026
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_025114.3(CEP290):c.-295T>C rs374616539 0.00026
NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp) rs147191956 0.00026
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772 0.00025
NM_000168.6(GLI3):c.*386A>G rs951401550 0.00024
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00024
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys) rs374554530 0.00024
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) rs139006210 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_198525.3(KIF7):c.2613G>A (p.Glu871=) rs370595622 0.00024
NM_000168.6(GLI3):c.*332T>C rs190531579 0.00023
NM_000168.6(GLI3):c.474-4C>T rs74536326 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_000165.5(GJA1):c.*521G>C rs1270925038 0.00022
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_002334.4(LRP4):c.378G>A (p.Leu126=) rs201749120 0.00022
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441 0.00022
NM_017777.4(MKS1):c.644+8G>T rs370117125 0.00022
NM_025114.4(CEP290):c.3574-15T>A rs565414938 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_198525.3(KIF7):c.*36C>T rs370152166 0.00022
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp) rs142598777 0.00022
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_002334.3(LRP4):c.-174G>A rs1331428298 0.00021
NM_002334.4(LRP4):c.1769G>A (p.Arg590His) rs149435615 0.00021
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=) rs150734530 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_017777.4(MKS1):c.*603T>G rs578200260 0.00021
NM_017777.4(MKS1):c.-15C>G rs541448010 0.00021
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00021
NM_198525.3(KIF7):c.1090C>T (p.Pro364Ser) rs764965490 0.00021
NM_198525.3(KIF7):c.612C>T (p.His204=) rs398124613 0.00021
NM_002334.4(LRP4):c.1491C>T (p.Leu497=) rs146501212 0.00020
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) rs145422541 0.00020
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965 0.00019
NM_000168.6(GLI3):c.3117G>A (p.Ala1039=) rs75796620 0.00019
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=) rs148043302 0.00019
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 0.00019
NM_002334.4(LRP4):c.*1546C>T rs1420065241 0.00019
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly) rs201957426 0.00019
NM_025114.4(CEP290):c.-147A>T rs753567406 0.00019
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129 0.00018
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_153704.6(TMEM67):c.*279T>C rs752060945 0.00017
NM_198525.3(KIF7):c.1324G>T (p.Asp442Tyr) rs747307729 0.00017
NM_000165.5(GJA1):c.*926A>T rs765290352 0.00016
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_002334.4(LRP4):c.*2252G>A rs188545674 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 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_000168.6(GLI3):c.*2347C>A rs138209843 0.00015
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=) rs137882536 0.00015
NM_198525.3(KIF7):c.2426G>A (p.Arg809Gln) rs758378987 0.00015
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr) rs756368261 0.00015
NM_000165.5(GJA1):c.*1077T>C rs528853645 0.00014
NM_000168.6(GLI3):c.-105A>G rs945082850 0.00014
NM_001173990.2(TMEM216):c.-86G>A rs188478638 0.00014
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 0.00014
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_015272.5(RPGRIP1L):c.*332T>G rs544840421 0.00014
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_025114.4(CEP290):c.*168A>G rs376016171 0.00014
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534 0.00014
NM_153704.6(TMEM67):c.869+9A>G rs372597584 0.00014
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=) rs77896636 0.00014
NM_000165.5(GJA1):c.706G>A (p.Val236Ile) rs148384161 0.00013
NM_000168.6(GLI3):c.*1332C>T rs761351887 0.00013
NM_001173990.2(TMEM216):c.-135T>C rs183785901 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_198525.3(KIF7):c.1922+13C>T rs376321790 0.00013
NM_000168.6(GLI3):c.*1411G>A rs148318176 0.00012
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573 0.00012
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524 0.00012
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682 0.00012
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00012
NM_000165.5(GJA1):c.*444A>G rs919415571 0.00011
NM_000165.5(GJA1):c.456G>A (p.Leu152=) rs72548741 0.00011
NM_000168.6(GLI3):c.*11A>G rs139896177 0.00011
NM_000168.6(GLI3):c.*185G>A rs531678760 0.00011
NM_000168.6(GLI3):c.*2465G>C rs886062314 0.00011
NM_000168.6(GLI3):c.*66G>T rs886062334 0.00011
NM_000168.6(GLI3):c.*974T>A rs886062328 0.00011
NM_000168.6(GLI3):c.411T>C (p.Ile137=) rs200203051 0.00011
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216 0.00011
NM_001378615.1(CC2D2A):c.717+11T>C rs184351317 0.00011
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln) rs143444937 0.00011
NM_015272.5(RPGRIP1L):c.*588A>G rs894081042 0.00011
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val) rs570856269 0.00011
NM_198525.3(KIF7):c.2364G>C (p.Arg788Ser) rs117123311 0.00011
NM_000165.5(GJA1):c.*1334T>C rs749953074 0.00010
NM_000165.5(GJA1):c.*191G>A rs886061012 0.00010
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=) rs756341605 0.00010
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727 0.00010
NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236 0.00010
NM_002334.4(LRP4):c.*242G>A rs890348934 0.00010
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_198525.3(KIF7):c.1576G>A (p.Glu526Lys) rs1436845524 0.00010
NM_198525.3(KIF7):c.208G>A (p.Val70Met) rs761934745 0.00010
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=) rs147767277 0.00010
NM_198525.3(KIF7):c.698G>A (p.Ser233Asn) rs1227236239 0.00010
NM_000165.5(GJA1):c.612G>A (p.Thr204=) rs766082259 0.00009
NM_000168.6(GLI3):c.288C>T (p.His96=) rs200905584 0.00009
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=) rs145513625 0.00009
NM_001173990.2(TMEM216):c.-91G>A rs557559653 0.00009
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His) rs373906628 0.00009
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg) rs375167917 0.00009
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521 0.00009
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044 0.00009
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
NM_002334.4(LRP4):c.*372G>A rs532378480 0.00009
NM_002334.4(LRP4):c.*609A>T rs547315814 0.00009
NM_002334.4(LRP4):c.2112C>T (p.Asp704=) rs140757594 0.00009
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg) rs141565454 0.00009
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) rs377204138 0.00009
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086 0.00009
NM_015272.5(RPGRIP1L):c.*901A>G rs750903762 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) rs771585740 0.00009
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330 0.00009
NM_198525.3(KIF7):c.3973C>T (p.Arg1325Trp) rs777140020 0.00009
NM_002334.4(LRP4):c.282C>T (p.Asn94=) rs17848224 0.00008
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_198525.3(KIF7):c.3225G>A (p.Ser1075=) rs375802364 0.00008
NM_198525.3(KIF7):c.3871G>A (p.Glu1291Lys) rs751191936 0.00008
NM_000165.5(GJA1):c.-135C>T rs539558089 0.00007
NM_000165.5(GJA1):c.-161G>T rs764033415 0.00007
NM_000168.6(GLI3):c.*2276T>C rs568393106 0.00007
NM_000168.6(GLI3):c.*2676C>T rs886062312 0.00007
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=) rs201112421 0.00007
NM_001173990.3(TMEM216):c.*525T>G rs982189283 0.00007
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_002334.4(LRP4):c.*1335G>A rs550964500 0.00007
NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln) rs138238230 0.00007
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829 0.00007
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_153240.5(NPHP3):c.*231A>T rs753577987 0.00007
NM_153704.6(TMEM67):c.2907+9T>C rs372865972 0.00007
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00007
NM_000168.6(GLI3):c.*1263C>T rs886062324 0.00006
NM_000168.6(GLI3):c.*3369C>A rs886062310 0.00006
NM_000168.6(GLI3):c.1800G>A (p.Thr600=) rs138445547 0.00006
NM_000168.6(GLI3):c.3894G>A (p.Pro1298=) rs530418832 0.00006
NM_000168.6(GLI3):c.748C>T (p.Pro250Ser) rs202039538 0.00006
NM_001173990.3(TMEM216):c.*372C>T rs565159932 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu) rs200034384 0.00006
NM_002334.4(LRP4):c.2318G>A (p.Arg773His) rs374890595 0.00006
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=) rs17848229 0.00006
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln) rs770309253 0.00006
NM_002334.4(LRP4):c.826C>T (p.Arg276Cys) rs557300271 0.00006
NM_015272.5(RPGRIP1L):c.*1276G>A rs375800554 0.00006
NM_015272.5(RPGRIP1L):c.*418G>A rs886052090 0.00006
NM_015272.5(RPGRIP1L):c.*980T>C rs886052087 0.00006
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser) rs928775924 0.00006
NM_017777.4(MKS1):c.729G>A (p.Thr243=) rs373491923 0.00006
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.5709+12A>G rs371010287 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404 0.00006
NM_153704.6(TMEM67):c.*1424C>A rs1024783132 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_198525.3(KIF7):c.1296G>A (p.Leu432=) rs886051533 0.00006
NM_198525.3(KIF7):c.2322C>A (p.Leu774=) rs145339415 0.00006
NM_198525.3(KIF7):c.2585G>A (p.Arg862His) rs202057334 0.00006
NM_198525.3(KIF7):c.530-7C>T rs202043641 0.00006
NM_198525.3(KIF7):c.588G>T (p.Leu196=) rs191721354 0.00006
NM_198525.3(KIF7):c.924-14C>T rs573998309 0.00006
NM_000141.5(FGFR2):c.*736dup rs886046762 0.00005
NM_000168.6(GLI3):c.480C>T (p.Ser160=) rs148660482 0.00005
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=) rs199909714 0.00005
NM_002334.4(LRP4):c.*104C>T rs536278440 0.00005
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu) rs146362081 0.00005
NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met) rs372637156 0.00005
NM_002334.4(LRP4):c.922+13G>A rs771013783 0.00005
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508 0.00005
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372 0.00005
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_017777.4(MKS1):c.*49C>A rs371962780 0.00005
NM_017777.4(MKS1):c.1506G>A (p.Ser502=) rs368535131 0.00005
NM_017777.4(MKS1):c.498G>T (p.Arg166=) rs778956664 0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553 0.00005
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) rs369812327 0.00005
NM_198525.3(KIF7):c.1297C>A (p.Pro433Thr) rs932033181 0.00005
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn) rs765459582 0.00004
NM_000168.6(GLI3):c.*1780C>T rs886062319 0.00004
NM_000168.6(GLI3):c.*2071C>T rs539931592 0.00004
NM_000168.6(GLI3):c.1221C>T (p.Ser407=) rs369180011 0.00004
NM_000168.6(GLI3):c.1540G>A (p.Val514Met) rs148502119 0.00004
NM_000168.6(GLI3):c.2740G>A (p.Gly914Ser) rs147004305 0.00004
NM_000168.6(GLI3):c.3119A>T (p.Glu1040Val) rs376477553 0.00004
NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr) rs369926331 0.00004
NM_000168.6(GLI3):c.963C>T (p.Leu321=) rs34965132 0.00004
NM_001173990.2(TMEM216):c.-264C>T rs1365742655 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn) rs373797532 0.00004
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878 0.00004
NM_002334.4(LRP4):c.2535A>C (p.Thr845=) rs145557677 0.00004
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu) rs767372563 0.00004
NM_002334.4(LRP4):c.933A>G (p.Gln311=) rs375108263 0.00004
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_017777.4(MKS1):c.*415G>A rs750194631 0.00004
NM_017777.4(MKS1):c.*469C>T rs386465709 0.00004
NM_017777.4(MKS1):c.*594T>G rs371037402 0.00004
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00004
NM_025114.4(CEP290):c.-96C>T rs528270888 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 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.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00004
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) rs774288177 0.00004
NM_153704.6(TMEM67):c.2556+4T>G rs772449181 0.00004
NM_198525.3(KIF7):c.*87C>A rs886051528 0.00004
NM_198525.3(KIF7):c.1290C>T (p.Pro430=) rs886051534 0.00004
NM_198525.3(KIF7):c.2459G>A (p.Arg820Gln) rs374638470 0.00004
NM_198525.3(KIF7):c.3123G>A (p.Thr1041=) rs146808726 0.00004
NM_198525.3(KIF7):c.3486G>A (p.Gln1162=) rs185689321 0.00004
NM_198525.3(KIF7):c.376G>A (p.Glu126Lys) rs886051544 0.00004
NM_198525.3(KIF7):c.517C>T (p.Arg173Cys) rs559797970 0.00004
NM_000165.5(GJA1):c.*1143T>G rs765423162 0.00003
NM_000168.6(GLI3):c.*1386A>G rs886062322 0.00003
NM_000168.6(GLI3):c.*2257A>T rs886062316 0.00003
NM_000168.6(GLI3):c.1066T>C (p.Ser356Pro) rs371057761 0.00003
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr) rs756581886 0.00003
NM_000168.6(GLI3):c.1485G>A (p.Glu495=) rs149248727 0.00003
NM_000168.6(GLI3):c.2960A>G (p.Tyr987Cys) rs777313061 0.00003
NM_000168.6(GLI3):c.3149C>T (p.Thr1050Met) rs146556791 0.00003
NM_000168.6(GLI3):c.368-7T>G rs74376818 0.00003
NM_000168.6(GLI3):c.783C>T (p.Ala261=) rs748769754 0.00003
NM_001173990.3(TMEM216):c.*303C>T rs144613667 0.00003
NM_001173990.3(TMEM216):c.*93T>C rs746881860 0.00003
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) rs35314485 0.00003
NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly) rs758963962 0.00003
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=) rs1379770755 0.00003
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg) rs763466980 0.00003
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val) rs200044412 0.00003
NM_002334.4(LRP4):c.*44T>C rs372674165 0.00003
NM_002334.4(LRP4):c.1284C>T (p.Pro428=) rs374136996 0.00003
NM_002334.4(LRP4):c.2639C>T (p.Ala880Val) rs373683358 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002334.4(LRP4):c.968G>A (p.Arg323His) rs745607286 0.00003
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met) rs536037779 0.00003
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117 0.00003
NM_017777.4(MKS1):c.*381A>G rs886053168 0.00003
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met) rs367625961 0.00003
NM_017777.4(MKS1):c.1408-15A>G rs762989365 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.813C>T (p.His271=) rs201961765 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu) rs761111801 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_153704.6(TMEM67):c.*942G>A rs886063177 0.00003
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738 0.00003
NM_153704.6(TMEM67):c.2924G>A (p.Arg975His) rs191759530 0.00003
NM_198525.3(KIF7):c.*147G>T rs142747773 0.00003
NM_198525.3(KIF7):c.1157A>T (p.His386Leu) rs886051537 0.00003
NM_198525.3(KIF7):c.2321T>C (p.Leu774Pro) rs762864604 0.00003
NM_000165.5(GJA1):c.-197T>G rs1387189062 0.00002
NM_000165.5(GJA1):c.-87C>T rs1263521795 0.00002
NM_000168.6(GLI3):c.*1007G>A rs886062327 0.00002
NM_000168.6(GLI3):c.*1470A>C rs1156419367 0.00002
NM_000168.6(GLI3):c.*165A>G rs886062333 0.00002
NM_000168.6(GLI3):c.1843A>T (p.Thr615Ser) rs200913720 0.00002
NM_000168.6(GLI3):c.3631G>A (p.Gly1211Arg) rs757059523 0.00002
NM_000168.6(GLI3):c.935C>T (p.Thr312Met) rs772929930 0.00002
NM_001173990.3(TMEM216):c.*335G>A rs886048414 0.00002
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) rs769285695 0.00002
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu) rs543650388 0.00002
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp) rs541135799 0.00002
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829 0.00002
NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser) rs745599580 0.00002
NM_002334.4(LRP4):c.*780C>T rs886048344 0.00002
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) rs143207358 0.00002
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys) rs749530671 0.00002
NM_002334.4(LRP4):c.172G>A (p.Gly58Arg) rs139901577 0.00002
NM_002334.4(LRP4):c.290A>C (p.Glu97Ala) rs766174802 0.00002
NM_002334.4(LRP4):c.3278-6C>T rs373579793 0.00002
NM_002334.4(LRP4):c.3709G>T (p.Ala1237Ser) rs748719669 0.00002
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr) rs541585714 0.00002
NM_015272.5(RPGRIP1L):c.*1206C>T rs1437795784 0.00002
NM_015272.5(RPGRIP1L):c.*822A>G rs554221378 0.00002
NM_015272.5(RPGRIP1L):c.-7-10T>C rs886052099 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_017777.4(MKS1):c.1273+12T>A rs762439479 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys) rs559966703 0.00002
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=) rs752046733 0.00002
NM_153704.6(TMEM67):c.*822G>A rs1295335321 0.00002
NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg) rs142280651 0.00002
NM_153704.6(TMEM67):c.2291G>A (p.Arg764Gln) rs754934520 0.00002
NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile) rs781361559 0.00002
NM_198525.3(KIF7):c.2231G>A (p.Arg744His) rs758730416 0.00002
NM_198525.3(KIF7):c.3835C>T (p.Arg1279Cys) rs749221779 0.00002
NM_000165.5(GJA1):c.*538G>A rs886061014 0.00001
NM_000165.5(GJA1):c.*635C>T rs886061015 0.00001
NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn) rs772121642 0.00001
NM_000165.5(GJA1):c.483C>G (p.Phe161Leu) rs750243405 0.00001
NM_000165.5(GJA1):c.712G>T (p.Asp238Tyr) rs143026885 0.00001
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro) rs376074787 0.00001
NM_000168.6(GLI3):c.*1366C>T rs886062323 0.00001
NM_000168.6(GLI3):c.*1399T>C rs1160002644 0.00001
NM_000168.6(GLI3):c.*2089G>A rs865942966 0.00001
NM_000168.6(GLI3):c.*2176G>C rs1486012871 0.00001
NM_000168.6(GLI3):c.*2508G>C rs886062313 0.00001
NM_000168.6(GLI3):c.*28C>T rs761585918 0.00001
NM_000168.6(GLI3):c.*3002A>G rs1484040578 0.00001
NM_000168.6(GLI3):c.*311T>A rs1189349323 0.00001
NM_000168.6(GLI3):c.*889T>C rs1318388633 0.00001
NM_000168.6(GLI3):c.1057G>A (p.Ala353Thr) rs375277249 0.00001
NM_000168.6(GLI3):c.1845T>C (p.Thr615=) rs373687877 0.00001
NM_000168.6(GLI3):c.1958C>T (p.Pro653Leu) rs141220299 0.00001
NM_000168.6(GLI3):c.2004G>A (p.Pro668=) rs867192725 0.00001
NM_000168.6(GLI3):c.21C>T (p.Ser7=) rs770954230 0.00001
NM_000168.6(GLI3):c.2375G>A (p.Arg792Gln) rs546878700 0.00001
NM_000168.6(GLI3):c.2412C>G (p.Val804=) rs761829250 0.00001
NM_000168.6(GLI3):c.2493C>A (p.Ser831Arg) rs752838669 0.00001
NM_000168.6(GLI3):c.2729G>A (p.Ser910Asn) rs750790986 0.00001
NM_000168.6(GLI3):c.3278C>T (p.Pro1093Leu) rs777149082 0.00001
NM_000168.6(GLI3):c.367C>T (p.His123Tyr) rs199909375 0.00001
NM_000168.6(GLI3):c.3786A>G (p.Pro1262=) rs368450304 0.00001
NM_000168.6(GLI3):c.4008G>A (p.Gly1336=) rs755403372 0.00001
NM_000168.6(GLI3):c.4342G>A (p.Val1448Met) rs778526954 0.00001
NM_000168.6(GLI3):c.4356G>A (p.Gln1452=) rs377535957 0.00001
NM_000168.6(GLI3):c.4590C>T (p.Asn1530=) rs886062335 0.00001
NM_000168.6(GLI3):c.681G>A (p.Ala227=) rs752998397 0.00001
NM_000168.6(GLI3):c.825T>C (p.Asp275=) rs201269781 0.00001
NM_000168.6(GLI3):c.961C>T (p.Leu321Phe) rs769956877 0.00001
NM_000168.6(GLI3):c.99C>T (p.Ala33=) rs201109218 0.00001
NM_001080522.2(CC2D2A):c.*144A>C rs920755267 0.00001
NM_001173990.2(TMEM216):c.-242C>T rs756981776 0.00001
NM_001173990.3(TMEM216):c.*377T>C rs1260385076 0.00001
NM_001378615.1(CC2D2A):c.*94T>C rs1296848672 0.00001
NM_001378615.1(CC2D2A):c.1018-11T>C rs200340261 0.00001
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr) rs368669579 0.00001
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142 0.00001
NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu) rs759126033 0.00001
NM_001378615.1(CC2D2A):c.2133G>C (p.Gln711His) rs886059139 0.00001
NM_001378615.1(CC2D2A):c.2486+8A>G rs749186859 0.00001
NM_001378615.1(CC2D2A):c.2487-6T>C rs767335431 0.00001
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe) rs765820512 0.00001
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=) rs886059158 0.00001
NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181 0.00001
NM_001378615.1(CC2D2A):c.3272A>T (p.Asp1091Val) rs763775613 0.00001
NM_001378615.1(CC2D2A):c.3398+7A>G rs772784324 0.00001
NM_001378615.1(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184 0.00001
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys) rs371561652 0.00001
NM_001378615.1(CC2D2A):c.4675-12T>G rs769761582 0.00001
NM_001378615.1(CC2D2A):c.4675-14T>A rs766203266 0.00001
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_001378615.1(CC2D2A):c.880G>C (p.Val294Leu) rs201986486 0.00001
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His) rs113371687 0.00001
NM_002334.4(LRP4):c.*1273G>C rs1259687722 0.00001
NM_002334.4(LRP4):c.*2212C>T rs886048339 0.00001
NM_002334.4(LRP4):c.*329T>C rs1422186695 0.00001
NM_002334.4(LRP4):c.*665G>C rs1940431939 0.00001
NM_002334.4(LRP4):c.-146G>A rs886048359 0.00001
NM_002334.4(LRP4):c.-75A>G rs1216749396 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002334.4(LRP4):c.168C>T (p.Asp56=) rs1424380670 0.00001
NM_002334.4(LRP4):c.1922C>T (p.Pro641Leu) rs886048355 0.00001
NM_002334.4(LRP4):c.2317C>T (p.Arg773Cys) rs376444422 0.00001
NM_002334.4(LRP4):c.2325T>G (p.Ala775=) rs886048354 0.00001
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile) rs190872977 0.00001
NM_002334.4(LRP4):c.2570A>C (p.Asn857Thr) rs754708237 0.00001
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp) rs776260999 0.00001
NM_002334.4(LRP4):c.3509G>A (p.Arg1170Gln) rs1190944217 0.00001
NM_002334.4(LRP4):c.3699+5G>C rs745544336 0.00001
NM_002334.4(LRP4):c.4094G>A (p.Arg1365Gln) rs770974209 0.00001
NM_002334.4(LRP4):c.4384C>T (p.Arg1462Cys) rs1237519566 0.00001
NM_002334.4(LRP4):c.4693-9G>A rs1160599345 0.00001
NM_002334.4(LRP4):c.4763G>A (p.Arg1588Gln) rs746746234 0.00001
NM_002334.4(LRP4):c.4914C>G (p.Ala1638=) rs1485812094 0.00001
NM_002334.4(LRP4):c.5346C>G (p.Pro1782=) rs759701000 0.00001
NM_002334.4(LRP4):c.734A>G (p.Asn245Ser) rs781770287 0.00001
NM_002334.4(LRP4):c.750C>T (p.Cys250=) rs758493823 0.00001
NM_002334.4(LRP4):c.759C>T (p.Asp253=) rs368640705 0.00001
NM_002334.4(LRP4):c.801C>T (p.Thr267=) rs746028762 0.00001
NM_002334.4(LRP4):c.851G>A (p.Arg284His) rs369307795 0.00001
NM_002334.4(LRP4):c.956G>A (p.Cys319Tyr) rs769749835 0.00001
NM_002334.4(LRP4):c.963T>A (p.Asn321Lys) rs1257559745 0.00001
NM_015272.5(RPGRIP1L):c.*107G>A rs770837632 0.00001
NM_015272.5(RPGRIP1L):c.*1597G>A rs1963334195 0.00001
NM_015272.5(RPGRIP1L):c.*1869A>G rs1224541215 0.00001
NM_015272.5(RPGRIP1L):c.*262G>A rs563237818 0.00001
NM_015272.5(RPGRIP1L):c.*269C>T rs190566840 0.00001
NM_015272.5(RPGRIP1L):c.*53G>A rs1963400312 0.00001
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys) rs755258407 0.00001
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) rs550006406 0.00001
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp) rs201737322 0.00001
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872 0.00001
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=) rs768672275 0.00001
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136 0.00001
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile) rs780672507 0.00001
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177 0.00001
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) rs886038619 0.00001
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn) rs746806282 0.00001
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg) rs776310931 0.00001
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val) rs1167981125 0.00001
NM_017777.4(MKS1):c.102A>G (p.Thr34=) rs886053171 0.00001
NM_017777.4(MKS1):c.1209G>A (p.Ser403=) rs770493819 0.00001
NM_017777.4(MKS1):c.1589-3C>T rs752901746 0.00001
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys) rs753620277 0.00001
NM_017777.4(MKS1):c.447C>T (p.Ser149=) rs750376903 0.00001
NM_025114.4(CEP290):c.*151T>C rs2033206514 0.00001
NM_025114.4(CEP290):c.-203C>A rs961052158 0.00001
NM_025114.4(CEP290):c.-38G>C rs886049886 0.00001
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477 0.00001
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) rs1378036383 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.274A>G (p.Met92Val) rs951351175 0.00001
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly) rs886049882 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=) rs1159465602 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr) rs769886105 0.00001
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00001
NM_153704.6(TMEM67):c.*179T>C rs886063174 0.00001
NM_153704.6(TMEM67):c.*761T>G rs553442637 0.00001
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile) rs774701716 0.00001
NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln) rs769827614 0.00001
NM_153704.6(TMEM67):c.2278G>C (p.Glu760Gln) rs1166437802 0.00001
NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser) rs1461948623 0.00001
NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile) rs886063173 0.00001
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062 0.00001
NM_198525.3(KIF7):c.1218C>G (p.Gly406=) rs886051536 0.00001
NM_198525.3(KIF7):c.1894C>G (p.Pro632Ala) rs1254624184 0.00001
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539 0.00001
NM_198525.3(KIF7):c.2132G>A (p.Arg711Gln) rs368873919 0.00001
NM_198525.3(KIF7):c.218C>T (p.Ala73Val) rs552362795 0.00001
NM_198525.3(KIF7):c.2216G>A (p.Arg739His) rs943930875 0.00001
NM_198525.3(KIF7):c.2571C>G (p.Ser857Arg) rs764572782 0.00001
NM_198525.3(KIF7):c.3112-10G>A rs370548253 0.00001
NM_198525.3(KIF7):c.3477G>A (p.Glu1159=) rs886192389 0.00001
NM_198525.3(KIF7):c.3894G>A (p.Ala1298=) rs370333561 0.00001
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=) rs886051529 0.00001
NM_198525.3(KIF7):c.619G>A (p.Ala207Thr) rs886051542 0.00001
NM_198525.3(KIF7):c.623C>T (p.Thr208Met) rs886051541 0.00001
NM_198525.3(KIF7):c.643A>G (p.Ser215Gly) rs886051540 0.00001
NM_198525.3(KIF7):c.719C>T (p.Pro240Leu) rs886051539 0.00001
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.110-22TC[3] rs773932794
NM_000165.5(GJA1):c.*1043T>C rs886061021
NM_000165.5(GJA1):c.*1101T>C rs886061022
NM_000165.5(GJA1):c.*1204A>G rs1773943656
NM_000165.5(GJA1):c.*163G>A rs886061011
NM_000165.5(GJA1):c.*212A>T rs1408036306
NM_000165.5(GJA1):c.*301C>T rs72548749
NM_000165.5(GJA1):c.*47A>G rs886061010
NM_000165.5(GJA1):c.*529C>G rs886061013
NM_000165.5(GJA1):c.*694T>C rs886061016
NM_000165.5(GJA1):c.*750G>A rs1773934302
NM_000165.5(GJA1):c.*832C>G rs773394030
NM_000165.5(GJA1):c.*888C>A rs1329687638
NM_000165.5(GJA1):c.*992G>A rs903940354
NM_000165.5(GJA1):c.-16-12T>A rs56199702
NM_000165.5(GJA1):c.-188G>T rs886061008
NM_000165.5(GJA1):c.129A>G (p.Ser43=) rs749135596
NM_000165.5(GJA1):c.270C>G (p.Leu90=) rs886061009
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.717G>C (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.886T>C (p.Ser296Pro) rs1773914179
NM_000165.5(GJA1):c.893G>A (p.Cys298Tyr) rs1773914309
NM_000168.6(GLI3):c.*1027C>T rs886062326
NM_000168.6(GLI3):c.*1239T>A rs886062325
NM_000168.6(GLI3):c.*1471C>T rs886062321
NM_000168.6(GLI3):c.*1553T>G rs1787043241
NM_000168.6(GLI3):c.*1688C>G rs886062320
NM_000168.6(GLI3):c.*1858C>T rs886062318
NM_000168.6(GLI3):c.*2050T>G rs573860484
NM_000168.6(GLI3):c.*2146_*2150del rs774204684
NM_000168.6(GLI3):c.*2216T>C rs886062317
NM_000168.6(GLI3):c.*2358del rs144064690
NM_000168.6(GLI3):c.*2419T>C rs886062315
NM_000168.6(GLI3):c.*248del rs5883809
NM_000168.6(GLI3):c.*248dup rs5883809
NM_000168.6(GLI3):c.*2612A>G rs1583724689
NM_000168.6(GLI3):c.*265dup rs550264781
NM_000168.6(GLI3):c.*266_*267insA rs1554304160
NM_000168.6(GLI3):c.*2744T>G rs1050141162
NM_000168.6(GLI3):c.*2861T>G rs1787010195
NM_000168.6(GLI3):c.*3004G>A rs3735361
NM_000168.6(GLI3):c.*3094T>C rs886062311
NM_000168.6(GLI3):c.*3238C>T rs372628047
NM_000168.6(GLI3):c.*333A>G rs1787080355
NM_000168.6(GLI3):c.*3341dup rs138425063
NM_000168.6(GLI3):c.*512C>T rs886062330
NM_000168.6(GLI3):c.*589T>C rs886062329
NM_000168.6(GLI3):c.*73C>T rs1787093147
NM_000168.6(GLI3):c.-3A>G rs886062340
NM_000168.6(GLI3):c.-47C>T rs886062341
NM_000168.6(GLI3):c.-68G>A rs113629469
NM_000168.6(GLI3):c.-78G>T rs886062342
NM_000168.6(GLI3):c.-83C>T rs886062343
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1207G>A (p.Val403Ile) rs201070431
NM_000168.6(GLI3):c.1356+10C>A rs765591867
NM_000168.6(GLI3):c.1497C>T (p.His499=) rs539144173
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.1648-7T>A rs1787547025
NM_000168.6(GLI3):c.1957C>T (p.Pro653Ser) rs1787391168
NM_000168.6(GLI3):c.2083G>A (p.Val695Ile) rs199606102
NM_000168.6(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.3001G>A (p.Gly1001Ser) rs202182779
NM_000168.6(GLI3):c.3040G>C (p.Glu1014Gln) rs373643864
NM_000168.6(GLI3):c.3065C>T (p.Pro1022Leu) rs780814828
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) rs772839719
NM_000168.6(GLI3):c.353T>C (p.Met118Thr) rs886062339
NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp) rs369440387
NM_000168.6(GLI3):c.4016G>T (p.Arg1339Leu) rs756685313
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_000168.6(GLI3):c.4296G>A (p.Leu1432=) rs768735366
NM_000168.6(GLI3):c.4627G>T (p.Ala1543Ser) rs1787101579
NM_000168.6(GLI3):c.641C>T (p.Ser214Phe) rs886062338
NM_000168.6(GLI3):c.776C>G (p.Ala259Gly) rs565817241
NM_000168.6(GLI3):c.827-19dup rs200073401
NM_000168.6(GLI3):c.827-6T>C rs886062337
NM_000168.6(GLI3):c.864G>A (p.Pro288=) rs139026838
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001173990.2(TMEM216):c.-128A>C rs886048411
NM_001173990.2(TMEM216):c.-285A>G rs139151563
NM_001173990.3(TMEM216):c.*190A>G rs1858851501
NM_001173990.3(TMEM216):c.*247C>T rs886048413
NM_001173990.3(TMEM216):c.*393C>T rs1858858010
NM_001173990.3(TMEM216):c.*548T>A rs1858863107
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.230-9G>A rs886048412
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001378615.1(CC2D2A):c.-178T>C rs886059135
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001378615.1(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001378615.1(CC2D2A):c.1827G>A (p.Glu609=) rs886059138
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg) rs201884883
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.2339-10_2339-9del rs886059157
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001378615.1(CC2D2A):c.2486+9T>C rs768382177
NM_001378615.1(CC2D2A):c.2542A>G (p.Met848Val) rs376403848
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001378615.1(CC2D2A):c.3398+13T>C rs886059183
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala) rs886059185
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu) rs1485264498
NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=) rs1721486758
NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_002334.3(LRP4):c.-193C>A rs886048360
NM_002334.3(LRP4):c.-193C>G rs886048360
NM_002334.4(LRP4):c.*1064C>G rs886048343
NM_002334.4(LRP4):c.*1322G>T rs567606707
NM_002334.4(LRP4):c.*1334dup rs886048342
NM_002334.4(LRP4):c.*1467C>T rs1940410910
NM_002334.4(LRP4):c.*1586T>G rs774819807
NM_002334.4(LRP4):c.*1662C>A rs886048341
NM_002334.4(LRP4):c.*2082dup rs886048340
NM_002334.4(LRP4):c.*305C>T rs886048347
NM_002334.4(LRP4):c.*363C>T rs1940441759
NM_002334.4(LRP4):c.*415C>G rs1940440653
NM_002334.4(LRP4):c.*666del rs886048346
NM_002334.4(LRP4):c.*734C>G rs886048345
NM_002334.4(LRP4):c.-5G>A rs886048357
NM_002334.4(LRP4):c.1492A>C (p.Asn498His) rs750371073
NM_002334.4(LRP4):c.1608G>A (p.Glu536=) rs17848244
NM_002334.4(LRP4):c.2420A>C (p.Gln807Pro) rs1941292006
NM_002334.4(LRP4):c.2482A>G (p.Asn828Asp) rs1941287392
NM_002334.4(LRP4):c.2814+10G>A rs886048353
NM_002334.4(LRP4):c.2958G>A (p.Leu986=) rs541593593
NM_002334.4(LRP4):c.3022A>G (p.Met1008Val) rs886048352
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp) rs886048351
NM_002334.4(LRP4):c.3615C>T (p.Leu1205=) rs1941000868
NM_002334.4(LRP4):c.3818G>C (p.Arg1273Pro) rs747456405
NM_002334.4(LRP4):c.4322A>G (p.Asn1441Ser) rs886048350
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser) rs886048349
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln) rs886048348
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=) rs550931351
NM_002334.4(LRP4):c.4930G>A (p.Asp1644Asn) rs192480207
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln) rs3816614
NM_002334.4(LRP4):c.4940C>G (p.Pro1647Arg) rs772595373
NM_002334.4(LRP4):c.51C>T (p.His17=) rs1468417987
NM_002334.4(LRP4):c.528C>T (p.Gly176=) rs886048356
NM_002334.4(LRP4):c.776A>G (p.Gln259Arg) rs1941594469
NM_002334.4(LRP4):c.842G>T (p.Arg281Leu) rs146670859
NM_002968.3(SALL1):c.*1033dup rs551604859
NM_002968.3(SALL1):c.*1112dup rs551203456
NM_002968.3(SALL1):c.*563del rs886052078
NM_002968.3(SALL1):c.*588del rs35929381
NM_002968.3(SALL1):c.*705_*706del rs886052076
NM_002968.3(SALL1):c.*83GCCCC[1] rs374006676
NM_002968.3(SALL1):c.*920CTT[2] rs527584319
NM_002968.3(SALL1):c.43G>A (p.Asp15Asn) rs886052085
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_002968.3(SALL1):c.953del (p.Pro318fs)
NM_004465.2(FGF10):c.624A>G (p.Ser208=) rs886060653
NM_015272.5(RPGRIP1L):c.*1035T>C rs763384255
NM_015272.5(RPGRIP1L):c.*125G>T rs868861934
NM_015272.5(RPGRIP1L):c.*133T>A rs1963396187
NM_015272.5(RPGRIP1L):c.*159T>G rs1963395143
NM_015272.5(RPGRIP1L):c.*1645A>T rs144554139
NM_015272.5(RPGRIP1L):c.*626A>C rs886052089
NM_015272.5(RPGRIP1L):c.*846A>T rs1963365021
NM_015272.5(RPGRIP1L):c.*875A>G rs886052088
NM_015272.5(RPGRIP1L):c.-16A>G rs909461672
NM_015272.5(RPGRIP1L):c.-8G>T rs1020579838
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys) rs776941281
NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=) rs1967363312
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) rs886052097
NM_015272.5(RPGRIP1L):c.230+14G>A rs1970739259
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) rs886052095
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) rs886052094
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3617-13dup rs750499169
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=) rs773361667
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys) rs376808910
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile) rs1195150584
NM_017777.4(MKS1):c.-20C>G rs115507363
NM_017777.4(MKS1):c.1253T>C (p.Val418Ala) rs886053169
NM_017777.4(MKS1):c.1273+4A>G rs948397956
NM_017777.4(MKS1):c.1598G>A (p.Arg533His) rs779093781
NM_017777.4(MKS1):c.263T>C (p.Phe88Ser) rs886053170
NM_017777.4(MKS1):c.407A>C (p.Asn136Thr) rs1969184476
NM_017777.4(MKS1):c.729G>T (p.Thr243=) rs373491923
NM_017777.4(MKS1):c.763G>T (p.Gly255Trp) rs201237547
NM_017777.4(MKS1):c.80+14C>G rs761061379
NM_017777.4(MKS1):c.813C>A (p.His271Gln) rs201961765
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_025114.4(CEP290):c.*139TAAA[1] rs886049876
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_025114.4(CEP290):c.-118C>G rs886049887
NM_025114.4(CEP290):c.-208C>T rs551070690
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1623+10G>A rs377529198
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile) rs2038007630
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val) rs2037238288
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3574-9T>A rs202038547
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe) rs2036852568
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe) rs2036834615
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
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.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.5587-8T>C rs886049878
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile) rs2034338160
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val) rs2034240720
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.942+6T>G rs886049884
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_153240.5(NPHP3):c.*121_*123del rs371974858
NM_153240.5(NPHP3):c.*650_*651del rs886058000
NM_153240.5(NPHP3):c.*652_*653del rs886057999
NM_153240.5(NPHP3):c.*652del rs369921629
NM_153240.5(NPHP3):c.*654dup rs886057998
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3126-12dup rs398124547
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004
NM_153704.5(TMEM67):c.*1676C>T rs190176192
NM_153704.6(TMEM67):c.*1099A>G rs1808956444
NM_153704.6(TMEM67):c.*1434T>C rs886063178
NM_153704.6(TMEM67):c.*218T>C rs886063175
NM_153704.6(TMEM67):c.*25C>T rs1808912343
NM_153704.6(TMEM67):c.*300G>A rs886063176
NM_153704.6(TMEM67):c.*512T>C rs570774838
NM_153704.6(TMEM67):c.*580A>G rs995505639
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu) rs199708882
NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser) rs148726767
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2242-7G>A rs761170798
NM_153704.6(TMEM67):c.2556+5G>C rs886063172
NM_153704.6(TMEM67):c.2570C>G (p.Ala857Gly) rs201393025
NM_153704.6(TMEM67):c.2764+10A>T rs900677485
NM_153704.6(TMEM67):c.282T>C (p.Ala94=) rs1812547702
NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro) rs886063170
NM_198525.3(KIF7):c.*133G>T rs762353041
NM_198525.3(KIF7):c.*191T>A rs559070002
NM_198525.3(KIF7):c.*381G>A rs138875667
NM_198525.3(KIF7):c.*430dup rs113145397
NM_198525.3(KIF7):c.-68G>A rs537046990
NM_198525.3(KIF7):c.-75G>A rs886051545
NM_198525.3(KIF7):c.1221C>T (p.Ala407=) rs886051535
NM_198525.3(KIF7):c.1319T>A (p.Val440Glu) rs1964055538
NM_198525.3(KIF7):c.1358C>T (p.Ala453Val) rs886051532
NM_198525.3(KIF7):c.175G>C (p.Val59Leu) rs369404071
NM_198525.3(KIF7):c.1832A>G (p.Glu611Gly) rs993149094
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.2059C>A (p.Arg687=) rs138736028
NM_198525.3(KIF7):c.2079C>T (p.Val693=) rs113112856
NM_198525.3(KIF7):c.2235C>T (p.Ile745=) rs886051531
NM_198525.3(KIF7):c.2296C>G (p.Leu766Val) rs1439862748
NM_198525.3(KIF7):c.2337G>A (p.Glu779=) rs202089770
NM_198525.3(KIF7):c.2341T>C (p.Ser781Pro) rs886051530
NM_198525.3(KIF7):c.2421G>A (p.Thr807=) rs141497185
NM_198525.3(KIF7):c.2592+11C>A rs78199895
NM_198525.3(KIF7):c.2592+11C>T rs78199895
NM_198525.3(KIF7):c.2599G>T (p.Glu867Ter) rs1328669185
NM_198525.3(KIF7):c.259A>G (p.Asn87Asp) rs147947221
NM_198525.3(KIF7):c.2748C>G (p.Asp916Glu) rs746321431
NM_198525.3(KIF7):c.2776C>T (p.Arg926Trp) rs147407072
NM_198525.3(KIF7):c.2862G>C (p.Thr954=) rs1436327620
NM_198525.3(KIF7):c.3319-13G>A rs371154050
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.3519C>T (p.Asp1173=) rs778389919
NM_198525.3(KIF7):c.3637G>A (p.Gly1213Ser) rs143316368
NM_198525.3(KIF7):c.3992C>G (p.Ala1331Gly) rs1363015734
NM_198525.3(KIF7):c.405C>A (p.Asp135Glu) rs886051543
NM_198525.3(KIF7):c.418C>T (p.Leu140=) rs756117745
NM_198525.3(KIF7):c.479G>A (p.Gly160Asp) rs1432505645
NM_198525.3(KIF7):c.960G>A (p.Thr320=) rs886051538

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