ClinVar Miner

List of variants studied for autosomal recessive congenital cerebellar ataxia

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5772
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=) rs1748971 0.99666
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) rs6491088 0.99194
NM_016529.6(ATP8A2):c.3184-88G>A rs9511998 0.98717
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala) rs1617510 0.97670
NM_001329943.3(KIAA0586):c.1254-25G>A rs1743721 0.97577
NM_001329943.3(KIAA0586):c.2254+25A>G rs1743716 0.97575
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) rs1748986 0.97574
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95451
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92687
NM_032856.5(WDR73):c.591A>G (p.Ser197=) rs2271432 0.87940
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_016529.6(ATP8A2):c.2384+55C>T rs2296003 0.86506
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85216
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_003383.5(VLDLR):c.-69A>G rs12379259 0.81906
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) rs2241645 0.75696
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_001134831.2(AHI1):c.10+115C>A rs9402709 0.73311
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_033064.5(ATCAY):c.*2586A>G rs8104659 0.72881
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001378615.1(CC2D2A):c.3595-55C>G rs4280723 0.69017
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=) rs6491066 0.68336
NM_016529.6(ATP8A2):c.1185+71A>G rs7332442 0.65665
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_001044385.3(TMEM237):c.274+23A>G rs1208081 0.64988
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_016529.6(ATP8A2):c.2008-4G>C rs7335339 0.61047
NM_004056.6(CA8):c.-54A>C rs10101374 0.60710
NM_004056.6(CA8):c.100+85T>C rs7002871 0.60674
NM_004056.6(CA8):c.-103T>C rs10086341 0.60622
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_018718.3(CEP41):c.*5102G>A rs1990790 0.54035
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_017777.4(MKS1):c.750-105T>C rs3744105 0.53777
NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=) rs3809871 0.53472
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_016529.6(ATP8A2):c.3183+95C>T rs2249800 0.52080
NM_004056.6(CA8):c.327A>G (p.Glu109=) rs7464181 0.51676
NM_001329943.3(KIAA0586):c.4495+3795T>C rs28535751 0.42605
NM_033064.5(ATCAY):c.*823C>T rs10424392 0.39386
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
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_033064.5(ATCAY):c.*3181G>A rs10412199 0.37873
NM_018718.3(CEP41):c.*4295G>C rs4728195 0.36596
NM_017777.4(MKS1):c.261+67A>G rs7225148 0.34782
NM_003383.5(VLDLR):c.-56C>T rs34881325 0.31505
NM_003383.5(VLDLR):c.82+7G>A rs2219143 0.31376
NM_017651.4(AHI1):c.-293G>T rs13197384 0.29491
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086 0.27524
NM_001134831.2(AHI1):c.*218C>T rs1052502 0.27386
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.24562
NM_001163809.2(WDR81):c.5506-19C>G rs62090051 0.23717
NM_018718.3(CEP41):c.*4037A>G rs7793239 0.23508
NM_001163809.2(WDR81):c.*56A>G rs2287322 0.22860
NM_015272.5(RPGRIP1L):c.1401+127A>G rs7192060 0.22379
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) rs8065251 0.22229
NM_001077418.3(TMEM231):c.-6G>C rs3743602 0.21908
NM_001163809.2(WDR81):c.2739G>A (p.Leu913=) rs9912287 0.21861
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) rs8077638 0.21643
NM_015160.3(PMPCA):c.1200+33G>A rs4604565 0.21146
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_015272.5(RPGRIP1L):c.3432+67G>A rs113961478 0.19784
NM_003383.5(VLDLR):c.1313-17A>T rs6144 0.19776
NM_018718.3(CEP41):c.*2041G>A rs73152868 0.18522
NM_003383.5(VLDLR):c.1066+43C>T rs10967320 0.18162
NM_018718.3(CEP41):c.*1859G>T rs73152869 0.17105
NM_033064.5(ATCAY):c.1074-14T>C rs10420591 0.16262
NM_003383.5(VLDLR):c.*551T>C rs8210 0.16040
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_018718.3(CEP41):c.*1931C>T rs17133175 0.15684
NM_003383.5(VLDLR):c.1187-3C>T rs11789583 0.15129
NM_003383.5(VLDLR):c.1312+27G>A rs11793899 0.14831
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148 0.13882
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_015160.3(PMPCA):c.90C>T (p.Tyr30=) rs10870144 0.13348
NM_001382391.1(CSPP1):c.2392-17C>T rs58448590 0.13329
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His) rs16933182 0.12797
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_018718.3(CEP41):c.*3887C>G rs62471754 0.11370
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_003383.5(VLDLR):c.*180G>A rs3421 0.10555
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_017777.4(MKS1):c.1024+128C>T rs72839966 0.08242
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07946
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06658
NM_032856.5(WDR73):c.1001A>G (p.Asp334Gly) rs72750868 0.06616
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149 0.05632
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_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) rs6143 0.04393
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_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_001134831.2(AHI1):c.-299G>A rs113052089 0.03529
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_033064.5(ATCAY):c.*1586T>C rs10411454 0.03139
NM_003383.5(VLDLR):c.944-5T>C rs35782329 0.03136
NM_033064.5(ATCAY):c.*806A>G rs73919392 0.03009
NM_001382391.1(CSPP1):c.-34C>G rs117210747 0.02944
NM_033064.5(ATCAY):c.*976C>G rs73919393 0.02901
NM_033064.5(ATCAY):c.*1542C>T rs10404967 0.02886
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761 0.02399
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270 0.02372
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435 0.02349
NM_001077418.3(TMEM231):c.582+8C>G rs144252983 0.02257
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_033064.5(ATCAY):c.*1036G>C rs73919394 0.02206
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg) rs1808140 0.02204
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) rs11611 0.02142
NM_018718.3(CEP41):c.*927T>C rs73152870 0.02074
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_033064.5(ATCAY):c.137-11T>C rs73919387 0.02031
NM_033064.5(ATCAY):c.*507G>C rs116813246 0.01949
NM_001044385.3(TMEM237):c.395+7A>G rs78297522 0.01932
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_001077418.3(TMEM231):c.582+3A>G rs114290622 0.01823
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_033064.5(ATCAY):c.*2026G>A rs147402942 0.01676
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_033064.5(ATCAY):c.*1423T>A rs184437292 0.01635
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=) rs76567936 0.01632
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_033064.5(ATCAY):c.*1235T>C rs148116098 0.01449
NM_001044385.3(TMEM237):c.*3124A>T rs79378497 0.01390
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_018718.3(CEP41):c.*3507C>T rs149385617 0.01355
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225 0.01307
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052 0.01305
NM_018718.3(CEP41):c.*3765G>T rs138768326 0.01276
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037 0.01255
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_001044385.3(TMEM237):c.-12G>A rs113186360 0.01229
NM_001329943.3(KIAA0586):c.2060-3T>C rs17094553 0.01209
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_033064.5(ATCAY):c.*1190G>A rs143684746 0.01134
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845 0.01118
NM_033064.5(ATCAY):c.866+6A>G rs116660680 0.01088
NM_001329943.3(KIAA0586):c.2553+11G>A rs78511804 0.01083
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
NM_033064.5(ATCAY):c.810C>T (p.Ile270=) rs61746441 0.01075
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645 0.01047
NM_018718.3(CEP41):c.*3783T>C rs117071818 0.01015
NM_033064.5(ATCAY):c.*2514A>G rs142048723 0.00992
NM_032856.5(WDR73):c.336G>A (p.Gln112=) rs73449331 0.00970
NM_016464.5(TMEM138):c.-24G>A rs116455434 0.00930
NM_033064.5(ATCAY):c.*486A>C rs115839391 0.00924
NM_033064.5(ATCAY):c.*3154C>T rs116311313 0.00916
NM_025114.4(CEP290):c.-33G>T rs139415563 0.00894
NM_032856.5(WDR73):c.41+262G>A rs147776100 0.00888
NM_033064.5(ATCAY):c.*2692G>A rs117794052 0.00870
NM_001044385.3(TMEM237):c.*1489G>C rs78220061 0.00855
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=) rs114177619 0.00835
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly) rs3783697 0.00806
NM_001382391.1(CSPP1):c.3110-11A>G rs148930801 0.00781
NM_001044385.3(TMEM237):c.75-13T>C rs116829037 0.00764
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
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_033064.5(ATCAY):c.*2394C>T rs10406812 0.00732
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val) rs59248588 0.00694
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr) rs74055693 0.00689
NM_018718.3(CEP41):c.*1512C>T rs73721889 0.00689
NM_033064.5(ATCAY):c.*1180C>T rs140608538 0.00683
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) rs61745119 0.00667
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_003383.5(VLDLR):c.449-12C>T rs73640152 0.00648
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001378615.1(CC2D2A):c.-18-2673G>A rs183968785 0.00636
NM_001382391.1(CSPP1):c.3220+13A>G rs139491415 0.00625
NM_003383.5(VLDLR):c.*534T>C rs10967349 0.00619
NM_001173990.3(TMEM216):c.*21A>G rs111371929 0.00615
NM_003383.5(VLDLR):c.-171G>C rs35763266 0.00593
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_033064.5(ATCAY):c.*7G>A rs60814801 0.00577
NM_015272.5(RPGRIP1L):c.*491C>G rs35669682 0.00564
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154 0.00537
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931 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_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897 0.00518
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_033064.5(ATCAY):c.*1193T>A rs192536222 0.00517
NM_001044385.3(TMEM237):c.80-11T>C rs76296365 0.00503
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) rs148006211 0.00501
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_001044385.3(TMEM237):c.*962A>C rs142403941 0.00484
NM_001044385.3(TMEM237):c.*969A>G rs137925244 0.00484
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_001382391.1(CSPP1):c.-121A>G rs181470846 0.00481
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741 0.00468
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys) rs146431326 0.00429
NM_001044385.3(TMEM237):c.*3453T>G rs77771615 0.00420
NM_001044385.3(TMEM237):c.*2137A>G rs115353606 0.00418
NM_001044385.3(TMEM237):c.*2349C>T rs74884418 0.00418
NM_001044385.3(TMEM237):c.*3372C>T rs192214909 0.00418
NM_001044385.3(TMEM237):c.*1107C>T rs143516209 0.00417
NM_001044385.3(TMEM237):c.*1975C>G rs142233268 0.00417
NM_001044385.3(TMEM237):c.*2719G>A rs142852956 0.00417
NM_001044385.3(TMEM237):c.*2180G>A rs77649251 0.00416
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_001044385.3(TMEM237):c.*1588G>A rs150141936 0.00396
NM_033064.5(ATCAY):c.*871T>G rs183948049 0.00396
NM_033064.5(ATCAY):c.*313G>A rs141455019 0.00392
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_001044385.3(TMEM237):c.*2431T>G rs142355657 0.00379
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762 0.00375
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_001382391.1(CSPP1):c.100-13A>G rs78076942 0.00359
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_001044385.3(TMEM237):c.*2480T>G rs75655554 0.00337
NM_033064.5(ATCAY):c.*26T>C rs190923267 0.00335
NM_033064.5(ATCAY):c.647+10C>T rs181866005 0.00331
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_001128178.3(NPHP1):c.*194T>C rs189472793 0.00318
NM_033064.4(ATCAY):c.-390A>G rs140876148 0.00318
NM_018718.3(CEP41):c.*2482A>T rs189091601 0.00317
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=) rs61729923 0.00314
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile) rs61742715 0.00313
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00307
NM_018718.3(CEP41):c.*2116T>C rs190709953 0.00306
NM_001378615.1(CC2D2A):c.-87G>A rs145443888 0.00305
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu) rs73693125 0.00295
NM_001382391.1(CSPP1):c.484-15T>G rs199671558 0.00290
NM_018718.3(CEP41):c.*593G>A rs186685101 0.00290
NM_033064.5(ATCAY):c.98G>A (p.Gly33Glu) rs147031440 0.00290
NM_018718.3(CEP41):c.*136T>G rs148305542 0.00287
NM_018718.3(CEP41):c.*4314T>C rs114939029 0.00286
NM_018718.3(CEP41):c.*4322G>A rs538898722 0.00283
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235 0.00265
NM_033064.5(ATCAY):c.*3108C>T rs143949702 0.00262
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
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_001382391.1(CSPP1):c.3109+18C>T rs139599638 0.00242
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=) rs10112748 0.00231
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met) rs56737058 0.00223
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165 0.00223
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_018718.3(CEP41):c.*1974A>G rs185337247 0.00220
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln) rs201609022 0.00214
NM_001044385.3(TMEM237):c.554-15G>A rs144051344 0.00213
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029 0.00211
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764 0.00211
NM_001044385.3(TMEM237):c.396-14C>T rs74411816 0.00210
NM_033064.5(ATCAY):c.*687C>A rs377406299 0.00209
NM_001044385.3(TMEM237):c.*439G>A rs139374574 0.00208
NM_001044385.3(TMEM237):c.*634C>T rs139016907 0.00207
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198 0.00204
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
NM_001173990.3(TMEM216):c.*107G>T rs535550368 0.00203
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291 0.00202
NM_015272.5(RPGRIP1L):c.*1385A>G rs150194508 0.00201
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553 0.00199
NM_018718.3(CEP41):c.*3274G>A rs112007936 0.00199
NM_001382391.1(CSPP1):c.2590A>C (p.Ser864Arg) rs201259375 0.00198
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr) rs140026883 0.00196
NM_001329943.3(KIAA0586):c.4496-16C>T rs111487478 0.00195
NM_015272.5(RPGRIP1L):c.*1461A>T rs184079732 0.00195
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747 0.00194
NM_003383.5(VLDLR):c.*46C>G rs35412127 0.00193
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=) rs36069919 0.00187
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_018718.3(CEP41):c.*655C>T rs141441037 0.00185
NM_018718.3(CEP41):c.575-12T>C rs186638258 0.00185
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942 0.00184
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg) rs141389465 0.00183
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) rs182008317 0.00181
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu) rs186119649 0.00179
NM_001077418.3(TMEM231):c.-40C>G rs114889548 0.00177
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290 0.00177
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys) rs200722491 0.00175
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=) rs201008264 0.00173
NM_018718.3(CEP41):c.*1056A>C rs574982700 0.00170
NM_033064.5(ATCAY):c.*3332C>A rs59578136 0.00165
NM_001044385.3(TMEM237):c.*308T>G rs185380807 0.00163
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_018718.3(CEP41):c.*5068G>A rs148856430 0.00163
NM_018718.3(CEP41):c.*740C>T rs553917711 0.00161
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947 0.00159
NM_018718.3(CEP41):c.*4594C>T rs151309255 0.00159
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_001044385.3(TMEM237):c.*3855A>G rs187328136 0.00156
NM_001382391.1(CSPP1):c.632G>T (p.Arg211Leu) rs193231165 0.00156
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464 0.00152
NM_001134831.2(AHI1):c.*1404A>G rs149288894 0.00148
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721 0.00144
NM_015272.5(RPGRIP1L):c.-9C>T rs779839225 0.00143
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln) rs139671268 0.00141
NM_001044385.3(TMEM237):c.*1382C>T rs187040024 0.00140
NM_001044385.3(TMEM237):c.*3728A>G rs555315551 0.00140
NM_033064.5(ATCAY):c.*1653G>T rs543950349 0.00140
NM_001128178.3(NPHP1):c.*250C>T rs150558683 0.00139
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) rs146210288 0.00138
NM_018718.3(CEP41):c.*2389G>A rs73152867 0.00138
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434 0.00136
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser) rs200161440 0.00131
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) rs183168709 0.00129
NM_001077418.3(TMEM231):c.583-20A>T rs375984875 0.00128
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=) rs148016417 0.00128
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_001382391.1(CSPP1):c.1245+15C>T rs200874913 0.00125
NM_033064.5(ATCAY):c.1053G>A (p.Glu351=) rs369876142 0.00125
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 0.00121
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635 0.00120
NM_001329943.3(KIAA0586):c.4430-6A>C rs199732899 0.00118
NM_018718.3(CEP41):c.*4216C>T rs187549864 0.00117
NM_003383.5(VLDLR):c.1074C>T (p.Asn358=) rs115059319 0.00116
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) rs140526335 0.00115
NM_001044385.3(TMEM237):c.*564T>C rs141560423 0.00113
NM_001163809.2(WDR81):c.2254C>T (p.Pro752Ser) rs200781463 0.00113
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001134831.2(AHI1):c.*1288T>C rs886061103 0.00111
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_003383.5(VLDLR):c.-111C>T rs374367278 0.00109
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00108
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976 0.00108
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_033064.5(ATCAY):c.-198C>G rs553381633 0.00106
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) rs201181950 0.00105
NM_001329943.3(KIAA0586):c.1130-16A>C rs187748315 0.00105
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001382391.1(CSPP1):c.2122A>G (p.Ser708Gly) rs201316149 0.00101
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_018718.3(CEP41):c.*1579T>C rs554826749 0.00101
NM_001378615.1(CC2D2A):c.-47G>A rs778112215 0.00100
NM_015272.5(RPGRIP1L):c.3701+19A>C rs199926524 0.00099
NM_001329943.3(KIAA0586):c.200-14C>A rs373882617 0.00098
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=) rs61738360 0.00098
NM_001329943.3(KIAA0586):c.340+15T>C rs139305633 0.00096
NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn) rs181413894 0.00096
NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile) rs199608505 0.00096
NM_018718.3(CEP41):c.*4244C>G rs544508687 0.00096
NM_033064.5(ATCAY):c.1106+10A>T rs199991972 0.00096
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly) rs146127619 0.00093
NM_001077418.3(TMEM231):c.-15C>T rs138060715 0.00092
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027 0.00092
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=) rs199628375 0.00089
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=) rs201202020 0.00088
NM_003383.5(VLDLR):c.1809C>T (p.Asn603=) rs6147 0.00088
NM_018718.3(CEP41):c.*3541G>A rs376434190 0.00088
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_018718.3(CEP41):c.*680G>A rs146622910 0.00083
NM_018718.3(CEP41):c.*3856C>T rs187532705 0.00082
NM_033064.5(ATCAY):c.*3203G>A rs539627639 0.00081
NM_001382391.1(CSPP1):c.2539-12T>A rs185726462 0.00080
NM_001382391.1(CSPP1):c.924-11G>A rs149756527 0.00080
NM_018718.3(CEP41):c.*4908G>A rs552988501 0.00080
NM_015272.5(RPGRIP1L):c.*1510G>A rs140374059 0.00079
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) rs202073376 0.00078
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015 0.00077
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397 0.00077
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp) rs151163650 0.00076
NM_001134831.2(AHI1):c.*1146T>A rs557989991 0.00076
NM_001382391.1(CSPP1):c.3470-20G>T rs148896413 0.00076
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832 0.00073
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_033064.5(ATCAY):c.615C>A (p.Pro205=) rs112563476 0.00073
NM_032856.5(WDR73):c.883+8C>T rs200133030 0.00072
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221 0.00071
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg) rs200158932 0.00071
NM_033064.5(ATCAY):c.-241C>T rs376727951 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_033064.5(ATCAY):c.*2282C>T rs759377240 0.00066
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val) rs202130417 0.00063
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_016464.5(TMEM138):c.*228C>G rs536120944 0.00063
NM_015160.3(PMPCA):c.633+17G>A rs142661443 0.00062
NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr) rs369748157 0.00061
NM_001329943.3(KIAA0586):c.1583+15G>A rs201295491 0.00061
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_033064.5(ATCAY):c.36C>T (p.Asn12=) rs368213837 0.00061
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_033064.5(ATCAY):c.*1427A>T rs536842684 0.00060
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_016464.5(TMEM138):c.461G>A (p.Arg154His) rs147966742 0.00059
NM_018718.3(CEP41):c.*1646G>A rs187513408 0.00059
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297 0.00058
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_003383.5(VLDLR):c.468C>T (p.Pro156=) rs2242105 0.00058
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_001378615.1(CC2D2A):c.*45G>C rs372449768 0.00057
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475 0.00057
NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs) rs777199366 0.00056
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_001382391.1(CSPP1):c.1023-20del rs550798896 0.00056
NM_016464.5(TMEM138):c.102T>A (p.Thr34=) rs139387935 0.00056
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_001329943.3(KIAA0586):c.2944+8A>C rs571616049 0.00054
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=) rs143158234 0.00053
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) rs148487944 0.00053
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=) rs115773578 0.00053
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg) rs373811074 0.00052
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_001382391.1(CSPP1):c.3157-15A>G rs199558831 0.00052
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242 0.00052
NM_025114.4(CEP290):c.4705-18C>T rs199751805 0.00052
NM_001044385.3(TMEM237):c.*1655G>A rs1020619947 0.00051
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 0.00051
NM_018718.3(CEP41):c.*2481T>A rs528289176 0.00051
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp) rs200605669 0.00050
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) rs376795880 0.00049
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val) rs61745095 0.00048
NM_001329943.3(KIAA0586):c.1653T>C (p.Ile551=) rs374601841 0.00048
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151 0.00048
NM_018718.3(CEP41):c.*2896G>A rs147207980 0.00048
NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=) rs41300574 0.00047
NM_018718.3(CEP41):c.*1534T>C rs149912245 0.00047
NM_018718.3(CEP41):c.*1567A>C rs139085191 0.00047
NM_018718.3(CEP41):c.*1981G>A rs538682192 0.00047
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp) rs754340855 0.00046
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_018718.3(CEP41):c.*4595G>A rs117814753 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_001044385.3(TMEM237):c.*2960C>A rs188637429 0.00045
NM_025114.3(CEP290):c.-235T>G rs569632834 0.00045
NM_003383.5(VLDLR):c.-122T>C rs886063802 0.00044
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001378615.1(CC2D2A):c.*1T>A rs199945435 0.00042
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) rs200399046 0.00042
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_018718.3(CEP41):c.*3097T>C rs929238589 0.00042
NM_001044385.3(TMEM237):c.*2141C>T rs147652455 0.00041
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=) rs370010097 0.00041
NM_001077418.3(TMEM231):c.309+13C>A rs146945255 0.00041
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272 0.00041
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741 0.00041
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys) rs551740936 0.00041
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) rs145850728 0.00041
NM_153704.6(TMEM67):c.577-6A>G rs191516556 0.00041
NM_001329943.3(KIAA0586):c.1129+11del rs142477754 0.00040
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=) rs370003497 0.00040
NM_018718.3(CEP41):c.*1385T>G rs781845516 0.00040
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_001044385.3(TMEM237):c.*3517A>G rs563749617 0.00039
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) rs371709760 0.00039
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) rs77860620 0.00039
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys) rs200127338 0.00039
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154 0.00039
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732 0.00039
NM_033064.4(ATCAY):c.-398C>A rs186140929 0.00039
NM_033064.5(ATCAY):c.545-8C>T rs370662253 0.00039
NM_033064.5(ATCAY):c.866+7C>T rs140799527 0.00039
NM_001382391.1(CSPP1):c.1556C>T (p.Pro519Leu) rs200535417 0.00038
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221 0.00037
NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=) rs536603405 0.00037
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009 0.00037
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) rs568253718 0.00036
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu) rs369060106 0.00036
NM_003383.5(VLDLR):c.792C>T (p.Cys264=) rs141850403 0.00036
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) rs202017613 0.00036
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=) rs201235386 0.00035
NM_016464.5(TMEM138):c.216C>T (p.Asn72=) rs145939072 0.00035
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256 0.00034
NM_001329943.3(KIAA0586):c.3781+8A>G rs368737744 0.00034
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00034
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly) rs199996939 0.00034
NM_033064.5(ATCAY):c.*3404C>T rs540478786 0.00034
NM_001044385.3(TMEM237):c.554-10G>A rs371503069 0.00033
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00033
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) rs200201945 0.00033
NM_001329943.3(KIAA0586):c.2554-9C>T rs202018500 0.00033
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_018718.3(CEP41):c.*4599A>G rs753024852 0.00033
NM_001044385.3(TMEM237):c.*1008A>G rs777244164 0.00032
NM_001329943.3(KIAA0586):c.1407G>T (p.Gln469His) rs200446131 0.00032
NM_015272.5(RPGRIP1L):c.*1033G>A rs145688122 0.00032
NM_016464.5(TMEM138):c.-157C>G rs779029696 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_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) rs199624987 0.00031
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693 0.00031
NM_001329943.3(KIAA0586):c.3304+12A>G rs370645135 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_033064.5(ATCAY):c.426G>A (p.Thr142=) rs373080859 0.00031
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=) rs370418884 0.00030
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790 0.00030
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 0.00030
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=) rs11860753 0.00030
NM_015272.5(RPGRIP1L):c.3702-16A>G rs372739127 0.00030
NM_018718.3(CEP41):c.*805A>G rs145808545 0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_001077418.3(TMEM231):c.139+47C>A rs200063331 0.00029
NM_001134831.2(AHI1):c.*793A>G rs191324834 0.00029
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val) rs562905902 0.00029
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669 0.00029
NM_001329943.3(KIAA0586):c.2503C>G (p.Leu835Val) rs113040775 0.00029
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302 0.00029
NM_001329943.3(KIAA0586):c.3407T>C (p.Ile1136Thr) rs200148591 0.00029
NM_001329943.3(KIAA0586):c.4326C>T (p.Tyr1442=) rs139175231 0.00029
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=) rs182369056 0.00029
NM_003383.5(VLDLR):c.*16T>C rs150475109 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_018718.3(CEP41):c.423-18C>A rs371925259 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_153704.6(TMEM67):c.2439+17C>T rs375852558 0.00029
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247 0.00028
NM_018718.3(CEP41):c.422+7G>A rs190680511 0.00028
NM_033064.5(ATCAY):c.*681A>G rs772852314 0.00028
NM_001044385.3(TMEM237):c.*987C>T rs568084746 0.00027
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_001329943.3(KIAA0586):c.1254-13T>C rs368443727 0.00027
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met) rs369476930 0.00027
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617 0.00026
NM_001044385.3(TMEM237):c.944-16T>C rs369720243 0.00026
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340 0.00026
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) rs147119902 0.00026
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 0.00026
NM_001378615.1(CC2D2A):c.4675-15G>A rs377573053 0.00026
NM_001382391.1(CSPP1):c.1094-11C>T rs753835152 0.00026
NM_001382391.1(CSPP1):c.1497-3C>T rs184342035 0.00026
NM_003383.5(VLDLR):c.*83C>T rs755339168 0.00026
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426 0.00026
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) rs145995735 0.00026
NM_003383.5(VLDLR):c.954C>T (p.Cys318=) rs373943845 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_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val) rs147046186 0.00026
NM_018718.3(CEP41):c.*392G>A rs528501184 0.00026
NM_025114.3(CEP290):c.-295T>C rs374616539 0.00026
NM_033064.5(ATCAY):c.*2668G>A rs555029183 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_001382391.1(CSPP1):c.1497-13T>C rs193022291 0.00025
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772 0.00025
NM_018718.3(CEP41):c.*4973C>T rs760160179 0.00025
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533 0.00025
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_001077418.3(TMEM231):c.139+42G>A rs375718217 0.00024
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) rs199776253 0.00024
NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu) rs151078477 0.00024
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp) rs199554737 0.00024
NM_001329943.3(KIAA0586):c.3355A>G (p.Thr1119Ala) rs896789657 0.00024
NM_001329943.3(KIAA0586):c.3374C>T (p.Ala1125Val) rs201898983 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_001382391.1(CSPP1):c.2268A>G (p.Glu756=) rs199962946 0.00024
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg) rs370605967 0.00024
NM_003383.5(VLDLR):c.*48C>T rs368949453 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr) rs151250620 0.00024
NM_018718.3(CEP41):c.*2226G>A rs115431091 0.00024
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_032856.5(WDR73):c.596G>A (p.Arg199Gln) rs370037552 0.00024
NM_032856.5(WDR73):c.952C>T (p.Arg318Trp) rs373448317 0.00024
NM_033064.5(ATCAY):c.405G>A (p.Ala135=) rs202077180 0.00024
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_001382391.1(CSPP1):c.2539-5T>C rs555281942 0.00023
NM_016464.5(TMEM138):c.128+7G>T rs560650147 0.00023
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00022
NM_001329943.3(KIAA0586):c.*2C>T rs376691503 0.00022
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_003383.5(VLDLR):c.2104+5C>T rs201953557 0.00022
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441 0.00022
NM_018718.3(CEP41):c.*1341A>C rs782742227 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_033064.5(ATCAY):c.*212C>T rs764132493 0.00022
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447 0.00021
NM_001134831.2(AHI1):c.136-8C>T rs370834009 0.00021
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn) rs370059449 0.00021
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=) rs188676684 0.00021
NM_001329943.3(KIAA0586):c.660C>T (p.His220=) rs555609562 0.00021
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly) rs747204358 0.00021
NM_001382391.1(CSPP1):c.3156+6C>T rs375100195 0.00021
NM_001382391.1(CSPP1):c.46T>C (p.Leu16=) rs150924296 0.00021
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg) rs201797415 0.00021
NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His) rs142885301 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_016464.5(TMEM138):c.-169C>T rs553390222 0.00021
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00021
NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr) rs200021943 0.00021
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe) rs376578633 0.00020
NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly) rs780969097 0.00020
NM_001244189.2(KIAA0586):c.3G>A (p.Met1Ile) rs753810786 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_003383.5(VLDLR):c.738C>T (p.Cys246=) rs116687040 0.00020
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00020
NM_001077418.3(TMEM231):c.140-15C>T rs201518524 0.00019
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_001077418.3(TMEM231):c.438+12C>T rs1000442477 0.00019
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_001329943.3(KIAA0586):c.1237C>T (p.Pro413Ser) rs377325998 0.00019
NM_001329943.3(KIAA0586):c.1896A>G (p.Lys632=) rs760162925 0.00019
NM_001329943.3(KIAA0586):c.2964C>T (p.Gly988=) rs767722181 0.00019
NM_001329943.3(KIAA0586):c.411-1363G>C rs570489575 0.00019
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 0.00019
NM_001382391.1(CSPP1):c.773G>A (p.Arg258Lys) rs199901120 0.00019
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_018718.3(CEP41):c.*2781A>G rs782043938 0.00019
NM_018718.3(CEP41):c.*4391G>A rs782450438 0.00019
NM_025114.4(CEP290):c.-147A>T rs753567406 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_033064.5(ATCAY):c.478G>A (p.Gly160Arg) rs374611192 0.00019
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu) rs138181219 0.00018
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=) rs151120697 0.00018
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542 0.00018
NM_001329943.3(KIAA0586):c.730G>C (p.Glu244Gln) rs376338487 0.00018
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129 0.00018
NM_001382391.1(CSPP1):c.2294C>A (p.Ala765Glu) rs376549634 0.00018
NM_003383.5(VLDLR):c.582C>T (p.Gly194=) rs148012674 0.00018
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys) rs369902368 0.00018
NM_033064.5(ATCAY):c.*2289C>T rs1025056968 0.00018
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr) rs201412708 0.00017
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=) rs368904420 0.00017
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu) rs531527716 0.00017
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His) rs35948251 0.00017
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00017
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_001044385.3(TMEM237):c.*3123T>A rs866645983 0.00016
NM_001044385.3(TMEM237):c.79+8del rs759786234 0.00016
NM_001044385.3(TMEM237):c.869+10A>G rs376868416 0.00016
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=) rs371752653 0.00016
NM_001134831.2(AHI1):c.-214C>T rs183265971 0.00016
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282 0.00016
NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg) rs373014753 0.00016
NM_001163809.2(WDR81):c.2304C>T (p.His768=) rs994508298 0.00016
NM_001329943.3(KIAA0586):c.1143A>G (p.Leu381=) rs370408761 0.00016
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=) rs190089844 0.00016
NM_001329943.3(KIAA0586):c.3555A>G (p.Glu1185=) rs780038095 0.00016
NM_001329943.3(KIAA0586):c.411-1369A>G rs1044844835 0.00016
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser) rs377385599 0.00016
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala) rs374262758 0.00016
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=) rs140241814 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_018718.3(CEP41):c.*2786A>C rs782016580 0.00016
NM_018718.3(CEP41):c.*705G>A rs782543502 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_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_033064.5(ATCAY):c.*1154G>A rs528605076 0.00016
NM_033064.5(ATCAY):c.*728T>C rs371256803 0.00016
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val) rs866563020 0.00015
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly) rs369869567 0.00015
NM_001134831.2(AHI1):c.3588+15A>T rs370223538 0.00015
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro) rs149405514 0.00015
NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys) rs147844088 0.00015
NM_001329943.3(KIAA0586):c.2536G>C (p.Val846Leu) rs747245461 0.00015
NM_001329943.3(KIAA0586):c.3377C>T (p.Ala1126Val) rs750969059 0.00015
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=) rs371608031 0.00015
NM_001382391.1(CSPP1):c.148A>G (p.Met50Val) rs375985758 0.00015
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_001009894.3(RLIG1):c.*594T>C rs376016171 0.00014
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln) rs369010440 0.00014
NM_001134831.2(AHI1):c.189+12T>C rs199617785 0.00014
NM_001173990.2(TMEM216):c.-86G>A rs188478638 0.00014
NM_001329943.3(KIAA0586):c.1259C>T (p.Pro420Leu) rs187783779 0.00014
NM_001329943.3(KIAA0586):c.1490A>G (p.Asn497Ser) rs753633031 0.00014
NM_001329943.3(KIAA0586):c.3528-12T>G rs553895000 0.00014
NM_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg) rs200627657 0.00014
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys) rs201929144 0.00014
NM_001329943.3(KIAA0586):c.4495+3790C>T rs757410007 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_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg) rs368180778 0.00014
NM_001382391.1(CSPP1):c.-101A>G rs200250731 0.00014
NM_001382391.1(CSPP1):c.1675C>A (p.His559Asn) rs201417325 0.00014
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys) rs199521775 0.00014
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 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.1709A>G (p.Lys570Arg) rs111459222 0.00014
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile) rs141838831 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_018718.3(CEP41):c.*1328T>A rs782132652 0.00014
NM_018718.3(CEP41):c.*4714T>C rs782085608 0.00014
NM_018718.3(CEP41):c.757+12G>T rs377656524 0.00014
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537 0.00014
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=) rs375966721 0.00014
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_001134831.2(AHI1):c.1303C>A (p.Arg435=) rs121434349 0.00013
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser) rs375425462 0.00013
NM_001134831.2(AHI1):c.2962-3T>C rs369713977 0.00013
NM_001173990.2(TMEM216):c.-135T>C rs183785901 0.00013
NM_001329943.3(KIAA0586):c.2287C>T (p.Pro763Ser) rs776790149 0.00013
NM_001329943.3(KIAA0586):c.2832G>A (p.Glu944=) rs373201020 0.00013
NM_001329943.3(KIAA0586):c.2892T>C (p.Pro964=) rs527907908 0.00013
NM_001382391.1(CSPP1):c.1245+15dup rs766672873 0.00013
NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs) rs748602759 0.00013
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met) rs201142840 0.00013
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val) rs202061089 0.00013
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052 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_033064.5(ATCAY):c.*929G>A rs1007947890 0.00013
NM_153704.6(TMEM67):c.192T>C (p.Pro64=) rs150383995 0.00013
NM_001044385.3(TMEM237):c.*1151C>T rs188943302 0.00012
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu) rs372018476 0.00012
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp) rs373951297 0.00012
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val) rs375643798 0.00012
NM_001329943.3(KIAA0586):c.1987C>T (p.Pro663Ser) rs370560098 0.00012
NM_001329943.3(KIAA0586):c.411-1476T>G rs768486087 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_001382391.1(CSPP1):c.1325A>G (p.His442Arg) rs373927950 0.00012
NM_001382391.1(CSPP1):c.1995C>T (p.His665=) rs746724587 0.00012
NM_001382391.1(CSPP1):c.2772G>A (p.Glu924=) rs369933035 0.00012
NM_001382391.1(CSPP1):c.66G>A (p.Glu22=) rs372836006 0.00012
NM_003383.5(VLDLR):c.2395G>A (p.Ala799Thr) rs183359461 0.00012
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=) rs375774377 0.00012
NM_016464.5(TMEM138):c.414C>T (p.Ala138=) rs151094420 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_025114.4(CEP290):c.904A>G (p.Ile302Val) rs764495570 0.00012
NM_033064.5(ATCAY):c.*2311G>A rs186330129 0.00012
NM_033064.5(ATCAY):c.717G>A (p.Thr239=) rs768556456 0.00012
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00012
NM_153704.6(TMEM67):c.312+13T>C rs748077984 0.00012
NM_153704.6(TMEM67):c.312+14A>G rs202135944 0.00012
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala) rs781571059 0.00011
NM_001044385.3(TMEM237):c.989G>A (p.Ser330Asn) rs143081480 0.00011
NM_001077418.3(TMEM231):c.583-9G>A rs371734111 0.00011
NM_001134831.2(AHI1):c.135+19G>A rs374973889 0.00011
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys) rs553366477 0.00011
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys) rs199612496 0.00011
NM_001329943.3(KIAA0586):c.1393C>T (p.Pro465Ser) rs376681702 0.00011
NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val) rs200735064 0.00011
NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile) rs201393625 0.00011
NM_001329943.3(KIAA0586):c.2856C>T (p.Ile952=) rs780091990 0.00011
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=) rs554948147 0.00011
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216 0.00011
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_001378615.1(CC2D2A):c.717+11T>C rs184351317 0.00011
NM_001382391.1(CSPP1):c.1470C>T (p.Ser490=) rs548142175 0.00011
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala) rs371720718 0.00011
NM_001382391.1(CSPP1):c.3430C>T (p.Arg1144Ter) rs200346372 0.00011
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu) rs368550470 0.00011
NM_001382391.1(CSPP1):c.653G>A (p.Arg218Gln) rs371211802 0.00011
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln) rs746518411 0.00011
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter) rs144744629 0.00011
NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln) rs758146224 0.00011
NM_015272.5(RPGRIP1L):c.*588A>G rs894081042 0.00011
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp) rs376720589 0.00011
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg) rs373479905 0.00011
NM_016464.5(TMEM138):c.-23G>A rs192056545 0.00011
NM_016464.5(TMEM138):c.-55G>A rs555405590 0.00011
NM_016464.5(TMEM138):c.-71G>A rs199532763 0.00011
NM_016464.5(TMEM138):c.465G>A (p.Lys155=) rs141851191 0.00011
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys) rs35464956 0.00011
NM_018718.3(CEP41):c.*1773A>G rs782011799 0.00011
NM_018718.3(CEP41):c.*859G>A rs781930185 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225 0.00011
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg) rs377000187 0.00011
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu) rs368428115 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_025114.4(CEP290):c.6960+9C>T rs373226012 0.00011
NM_025114.4(CEP290):c.93C>T (p.Ser31=) rs375955381 0.00011
NM_033064.5(ATCAY):c.*3376C>T rs76339349 0.00011
NM_001044385.3(TMEM237):c.*1148A>G rs558665286 0.00010
NM_001044385.3(TMEM237):c.*1762G>A rs886055441 0.00010
NM_001044385.3(TMEM237):c.*2465A>G rs527921749 0.00010
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr) rs576982977 0.00010
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser) rs563492919 0.00010
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg) rs768608137 0.00010
NM_001134831.2(AHI1):c.1149T>C (p.Asp383=) rs371944986 0.00010
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704 0.00010
NM_001163809.2(WDR81):c.4315C>T (p.Arg1439Trp) rs141491316 0.00010
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser) rs200094677 0.00010
NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala) rs753972803 0.00010
NM_001329943.3(KIAA0586):c.36A>C (p.Lys12Asn) rs372215354 0.00010
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=) rs774903272 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_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu) rs372716023 0.00010
NM_001382391.1(CSPP1):c.2751A>C (p.Arg917Ser) rs201720914 0.00010
NM_003383.5(VLDLR):c.*460G>A rs550310153 0.00010
NM_003383.5(VLDLR):c.*63C>T rs17848373 0.00010
NM_003383.5(VLDLR):c.-392C>T rs867729388 0.00010
NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg) rs150829393 0.00010
NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln) rs573267388 0.00010
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798 0.00010
NM_015272.5(RPGRIP1L):c.2683+7C>T rs768922800 0.00010
NM_016464.5(TMEM138):c.*92G>C rs372997712 0.00010
NM_018718.3(CEP41):c.145+6del rs782483563 0.00010
NM_018718.3(CEP41):c.422+6C>T rs199678365 0.00010
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe) rs782137799 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.4438-13T>C rs528298900 0.00010
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_032856.5(WDR73):c.33C>T (p.Ser11=) rs376620550 0.00010
NM_033064.5(ATCAY):c.*1535G>A rs886054422 0.00010
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_000272.3(NPHP1):c.-54C>T rs777453061 0.00009
NM_001044385.3(TMEM237):c.*492T>C rs530304720 0.00009
NM_001044385.3(TMEM237):c.-61G>A rs571550977 0.00009
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=) rs751840699 0.00009
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=) rs375077045 0.00009
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535 0.00009
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=) rs758878104 0.00009
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=) rs146220435 0.00009
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr) rs377676279 0.00009
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu) rs1033790263 0.00009
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg) rs201771478 0.00009
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) rs370400336 0.00009
NM_001134831.2(AHI1):c.3588+1G>A rs533296867 0.00009
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581 0.00009
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286 0.00009
NM_001173990.2(TMEM216):c.-91G>A rs557559653 0.00009
NM_001329943.3(KIAA0586):c.3841C>T (p.His1281Tyr) rs371424977 0.00009
NM_001329943.3(KIAA0586):c.3859-17C>T rs764917881 0.00009
NM_001329943.3(KIAA0586):c.411-1359T>G rs1051790402 0.00009
NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu) rs750833160 0.00009
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=) rs533752814 0.00009
NM_001329943.3(KIAA0586):c.789A>G (p.Gln263=) rs550354835 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.4314+12C>T rs775304664 0.00009
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=) rs200434902 0.00009
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
NM_001382391.1(CSPP1):c.1697+19G>T rs563103826 0.00009
NM_001382391.1(CSPP1):c.2128+1G>A rs199791452 0.00009
NM_001382391.1(CSPP1):c.2672C>T (p.Pro891Leu) rs755021253 0.00009
NM_001382391.1(CSPP1):c.2953G>A (p.Glu985Lys) rs763639767 0.00009
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser) rs371681100 0.00009
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser) rs201884732 0.00009
NM_001382391.1(CSPP1):c.3330+18C>A rs372999075 0.00009
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln) rs763390190 0.00009
NM_001382391.1(CSPP1):c.511A>G (p.Ile171Val) rs188917565 0.00009
NM_001382391.1(CSPP1):c.964C>T (p.His322Tyr) rs145635985 0.00009
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086 0.00009
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val) rs140876280 0.00009
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn) rs769686672 0.00009
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys) rs149781516 0.00009
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln) rs560144848 0.00009
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_016464.5(TMEM138):c.128+3G>T rs754691659 0.00009
NM_016464.5(TMEM138):c.129-4A>G rs372877379 0.00009
NM_018718.3(CEP41):c.*1644A>G rs533265295 0.00009
NM_018718.3(CEP41):c.*2111A>G rs180725211 0.00009
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg) rs201834429 0.00009
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_033064.5(ATCAY):c.*1632T>C rs546859649 0.00009
NM_033064.5(ATCAY):c.*2742C>T rs769121113 0.00009
NM_033064.5(ATCAY):c.*740G>A rs569661909 0.00009
NM_033064.5(ATCAY):c.359-14C>T rs753594529 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_000272.4(NPHP1):c.*460T>A rs960612307 0.00008
NM_001044385.3(TMEM237):c.275-9T>C rs749658028 0.00008
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His) rs766289967 0.00008
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052 0.00008
NM_001329943.3(KIAA0586):c.1269A>G (p.Glu423=) rs190675549 0.00008
NM_001329943.3(KIAA0586):c.2736G>A (p.Pro912=) rs368984896 0.00008
NM_001329943.3(KIAA0586):c.2831A>T (p.Glu944Val) rs181400417 0.00008
NM_001329943.3(KIAA0586):c.3047C>T (p.Thr1016Ile) rs372259984 0.00008
NM_001329943.3(KIAA0586):c.347A>G (p.Asp116Gly) rs376113173 0.00008
NM_001329943.3(KIAA0586):c.4162G>A (p.Val1388Ile) rs369067010 0.00008
NM_001329943.3(KIAA0586):c.4315T>G (p.Phe1439Val) rs200405048 0.00008
NM_001329943.3(KIAA0586):c.962-14A>T rs200528557 0.00008
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln) rs375243763 0.00008
NM_001382391.1(CSPP1):c.2245G>A (p.Glu749Lys) rs770075138 0.00008
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln) rs367949127 0.00008
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp) rs756423026 0.00008
NM_003383.5(VLDLR):c.639C>T (p.Asp213=) rs779155452 0.00008
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile) rs892392514 0.00008
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu) rs773659373 0.00008
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) rs371560228 0.00008
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln) rs772697259 0.00008
NM_018718.3(CEP41):c.*3965A>G rs781992723 0.00008
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_033064.5(ATCAY):c.*838G>A rs1306758402 0.00008
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val) rs200145042 0.00008
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr) rs748221725 0.00008
NM_001077418.3(TMEM231):c.310-17C>T rs752375895 0.00007
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110 0.00007
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=) rs368594302 0.00007
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898 0.00007
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His) rs372894716 0.00007
NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val) rs373971733 0.00007
NM_001134831.2(AHI1):c.573A>C (p.Ala191=) rs200993978 0.00007
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001173990.3(TMEM216):c.*525T>G rs982189283 0.00007
NM_001329943.3(KIAA0586):c.1077G>A (p.Lys359=) rs199623501 0.00007
NM_001329943.3(KIAA0586):c.1752C>G (p.Thr584=) rs534407882 0.00007
NM_001329943.3(KIAA0586):c.1846G>T (p.Gly616Cys) rs766453312 0.00007
NM_001329943.3(KIAA0586):c.2943T>G (p.Ile981Met) rs370778483 0.00007
NM_001329943.3(KIAA0586):c.962-15A>C rs767414174 0.00007
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_001382391.1(CSPP1):c.1141C>T (p.Leu381=) rs539302524 0.00007
NM_001382391.1(CSPP1):c.1775C>G (p.Pro592Arg) rs767318500 0.00007
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu) rs752648207 0.00007
NM_001382391.1(CSPP1):c.244C>T (p.Arg82Trp) rs1024300760 0.00007
NM_001382391.1(CSPP1):c.2480A>G (p.Tyr827Cys) rs185130908 0.00007
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile) rs200546493 0.00007
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser) rs181079660 0.00007
NM_001382391.1(CSPP1):c.422A>G (p.Gln141Arg) rs775754786 0.00007
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val) rs775759544 0.00007
NM_003383.5(VLDLR):c.-207G>A rs1429851395 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_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn) rs138777811 0.00007
NM_018294.6(CWF19L1):c.964+1G>A rs587780326 0.00007
NM_018718.3(CEP41):c.*1284A>G rs376297063 0.00007
NM_018718.3(CEP41):c.*1336A>G rs781954428 0.00007
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly) rs781835148 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 0.00007
NM_033064.5(ATCAY):c.*1409T>C rs886054421 0.00007
NM_033064.5(ATCAY):c.*3136A>T rs569189077 0.00007
NM_153704.6(TMEM67):c.1674+14A>T rs769381574 0.00007
NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg) rs757105976 0.00007
NM_001044385.3(TMEM237):c.*1560C>T rs983166297 0.00006
NM_001044385.3(TMEM237):c.*3992A>G rs768173661 0.00006
NM_001044385.3(TMEM237):c.1160-1G>A rs747465681 0.00006
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001044385.3(TMEM237):c.738G>A (p.Val246=) rs199947989 0.00006
NM_001044385.3(TMEM237):c.74+15C>T rs375401635 0.00006
NM_001044385.3(TMEM237):c.79+15T>C rs182250754 0.00006
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln) rs368402335 0.00006
NM_001077418.3(TMEM231):c.210G>T (p.Val70=) rs757361739 0.00006
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met) rs762041003 0.00006
NM_001077418.3(TMEM231):c.582+6A>G rs376300743 0.00006
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=) rs776287219 0.00006
NM_001077418.3(TMEM231):c.665-19G>A rs200581224 0.00006
NM_001128178.3(NPHP1):c.1761+5A>C rs201030203 0.00006
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln) rs748557384 0.00006
NM_001128178.3(NPHP1):c.69+20A>G rs199941495 0.00006
NM_001134831.2(AHI1):c.10+13T>C rs973391845 0.00006
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=) rs185249049 0.00006
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 0.00006
NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala) rs754609881 0.00006
NM_001134831.2(AHI1):c.2561G>T (p.Cys854Phe) rs745507530 0.00006
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly) rs367640472 0.00006
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187 0.00006
NM_001134831.2(AHI1):c.708A>G (p.Lys236=) rs368281930 0.00006
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073 0.00006
NM_001134831.2(AHI1):c.74A>G (p.Asp25Gly) rs778792339 0.00006
NM_001134831.2(AHI1):c.853A>G (p.Met285Val) rs200389118 0.00006
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser) rs144021458 0.00006
NM_001173990.3(TMEM216):c.*372C>T rs565159932 0.00006
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092 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_001329943.3(KIAA0586):c.1253+3A>G rs762698768 0.00006
NM_001329943.3(KIAA0586):c.1657G>C (p.Asp553His) rs1214561950 0.00006
NM_001329943.3(KIAA0586):c.1785A>T (p.Val595=) rs371990780 0.00006
NM_001329943.3(KIAA0586):c.1917T>G (p.Asp639Glu) rs376649351 0.00006
NM_001329943.3(KIAA0586):c.2060-17A>T rs753287970 0.00006
NM_001329943.3(KIAA0586):c.3031G>A (p.Glu1011Lys) rs755889131 0.00006
NM_001329943.3(KIAA0586):c.3120T>G (p.Ala1040=) rs755369049 0.00006
NM_001329943.3(KIAA0586):c.3698C>G (p.Thr1233Ser) rs201702546 0.00006
NM_001329943.3(KIAA0586):c.3988G>A (p.Glu1330Lys) rs373649439 0.00006
NM_001329943.3(KIAA0586):c.411-1365C>T rs905321611 0.00006
NM_001329943.3(KIAA0586):c.4496-3801G>A rs575409268 0.00006
NM_001329943.3(KIAA0586):c.568G>A (p.Ala190Thr) rs755205238 0.00006
NM_001329943.3(KIAA0586):c.667C>T (p.Arg223Cys) rs573870218 0.00006
NM_001329943.3(KIAA0586):c.783A>G (p.Leu261=) rs370332963 0.00006
NM_001329943.3(KIAA0586):c.807+3A>T rs771308299 0.00006
NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro) rs553130671 0.00006
NM_001329943.3(KIAA0586):c.938A>G (p.Tyr313Cys) rs191232589 0.00006
NM_001329943.3(KIAA0586):c.987G>A (p.Thr329=) rs552791846 0.00006
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu) rs200034384 0.00006
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709 0.00006
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly) rs375247004 0.00006
NM_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr) rs374330054 0.00006
NM_001382391.1(CSPP1):c.1209G>A (p.Arg403=) rs370123119 0.00006
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr) rs533227813 0.00006
NM_001382391.1(CSPP1):c.2419C>T (p.Arg807Trp) rs757384412 0.00006
NM_001382391.1(CSPP1):c.2522T>C (p.Ile841Thr) rs376353407 0.00006
NM_001382391.1(CSPP1):c.2524G>A (p.Gly842Arg) rs371072368 0.00006
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly) rs374765060 0.00006
NM_001382391.1(CSPP1):c.2841G>A (p.Arg947=) rs368660068 0.00006
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val) rs553988238 0.00006
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572 0.00006
NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys) rs114872818 0.00006
NM_003383.5(VLDLR):c.1179C>T (p.Thr393=) rs372577949 0.00006
NM_003383.5(VLDLR):c.2270C>T (p.Thr757Ile) rs17848383 0.00006
NM_003383.5(VLDLR):c.449-14C>G rs370176704 0.00006
NM_015160.3(PMPCA):c.258G>C (p.Gln86His) rs141305380 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_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=) rs760245904 0.00006
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro) rs150099624 0.00006
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) rs794727129 0.00006
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys) rs527539036 0.00006
NM_016464.5(TMEM138):c.*354C>G rs889868449 0.00006
NM_016464.5(TMEM138):c.*547C>T rs781358495 0.00006
NM_016464.5(TMEM138):c.-164T>C rs886048407 0.00006
NM_016464.5(TMEM138):c.81C>T (p.Phe27=) rs149327827 0.00006
NM_018718.3(CEP41):c.*1411G>T rs886061996 0.00006
NM_018718.3(CEP41):c.*409A>C rs782042681 0.00006
NM_018718.3(CEP41):c.*776G>A rs374833862 0.00006
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg) rs564625875 0.00006
NM_018718.3(CEP41):c.1032C>T (p.Ser344=) rs189895981 0.00006
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_018718.3(CEP41):c.407G>A (p.Arg136His) rs546106020 0.00006
NM_018718.3(CEP41):c.957G>A (p.Gly319=) rs367931878 0.00006
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.189T>C (p.Ala63=) rs996908777 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 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_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 0.00006
NM_032856.5(WDR73):c.267A>G (p.Leu89=) rs772299478 0.00006
NM_033064.5(ATCAY):c.*2395G>A rs550621569 0.00006
NM_033064.5(ATCAY):c.*3377G>A rs975924890 0.00006
NM_033064.5(ATCAY):c.*3415G>A rs546687056 0.00006
NM_033064.5(ATCAY):c.647+14C>T rs755568668 0.00006
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys) rs192288680 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_153704.6(TMEM67):c.652-13T>C rs376654537 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_153704.6(TMEM67):c.869+17T>A rs767408748 0.00006
NM_001044385.3(TMEM237):c.*3385C>T rs374762322 0.00005
NM_001044385.3(TMEM237):c.137-14C>G rs760624801 0.00005
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001077418.2(TMEM231):c.-62A>C rs964025567 0.00005
NM_001077418.3(TMEM231):c.664+4A>G rs760426025 0.00005
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00005
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=) rs769897831 0.00005
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln) rs534052463 0.00005
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=) rs372637635 0.00005
NM_001134831.2(AHI1):c.2037-7T>C rs539801988 0.00005
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met) rs200284291 0.00005
NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=) rs199982600 0.00005
NM_001329943.3(KIAA0586):c.411-1495T>C rs1364313825 0.00005
NM_001329943.3(KIAA0586):c.4113T>C (p.Ser1371=) rs200906427 0.00005
NM_001329943.3(KIAA0586):c.4449T>C (p.Asp1483=) rs538659713 0.00005
NM_001329943.3(KIAA0586):c.534C>T (p.Thr178=) rs762154780 0.00005
NM_001329943.3(KIAA0586):c.928C>T (p.Pro310Ser) rs1054781365 0.00005
NM_001329943.3(KIAA0586):c.968T>C (p.Leu323Ser) rs563531719 0.00005
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=) rs199909714 0.00005
NM_001382391.1(CSPP1):c.113C>T (p.Ala38Val) rs201536815 0.00005
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile) rs772097768 0.00005
NM_001382391.1(CSPP1):c.1842A>C (p.Glu614Asp) rs759299114 0.00005
NM_001382391.1(CSPP1):c.1946C>T (p.Pro649Leu) rs376210928 0.00005
NM_001382391.1(CSPP1):c.2267A>G (p.Glu756Gly) rs559765139 0.00005
NM_001382391.1(CSPP1):c.2420G>A (p.Arg807Gln) rs779204541 0.00005
NM_001382391.1(CSPP1):c.2702G>A (p.Arg901His) rs375978348 0.00005
NM_001382391.1(CSPP1):c.2710+6G>A rs369255080 0.00005
NM_001382391.1(CSPP1):c.3157-7C>T rs750714624 0.00005
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys) rs754226022 0.00005
NM_003383.5(VLDLR):c.469G>A (p.Asp157Asn) rs768045623 0.00005
NM_003383.5(VLDLR):c.640G>A (p.Asp214Asn) rs113347960 0.00005
NM_003383.5(VLDLR):c.921C>T (p.Ser307=) rs777240049 0.00005
NM_015272.5(RPGRIP1L):c.1029+3A>C rs778583149 0.00005
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508 0.00005
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys) rs139964287 0.00005
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_015272.5(RPGRIP1L):c.3701+14G>A rs370009233 0.00005
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu) rs141574764 0.00005
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_016464.5(TMEM138):c.457C>G (p.Leu153Val) rs745506522 0.00005
NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala) rs764405866 0.00005
NM_018718.3(CEP41):c.*1352G>A rs1380245671 0.00005
NM_018718.3(CEP41):c.*1538A>C rs777673385 0.00005
NM_018718.3(CEP41):c.*3193C>T rs886061989 0.00005
NM_018718.3(CEP41):c.*4769C>T rs965337048 0.00005
NM_018718.3(CEP41):c.*614A>G rs781791465 0.00005
NM_018718.3(CEP41):c.*682A>G rs782649697 0.00005
NM_018718.3(CEP41):c.*881G>A rs782801860 0.00005
NM_018718.3(CEP41):c.146-11A>G rs781817949 0.00005
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 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.441+18T>C rs756876705 0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553 0.00005
NM_025114.4(CEP290):c.6358-4G>A rs369154492 0.00005
NM_033064.5(ATCAY):c.*1801T>C rs537102677 0.00005
NM_033064.5(ATCAY):c.*2265G>A rs886054423 0.00005
NM_033064.5(ATCAY):c.*2996G>A rs886054427 0.00005
NM_033064.5(ATCAY):c.*309C>T rs541933098 0.00005
NM_033064.5(ATCAY):c.*958G>A rs901656902 0.00005
NM_033064.5(ATCAY):c.370G>A (p.Val124Met) rs147684273 0.00005
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His) rs146130549 0.00005
NM_001044385.3(TMEM237):c.*1108A>G rs758086204 0.00004
NM_001044385.3(TMEM237):c.*2964T>A rs955949981 0.00004
NM_001044385.3(TMEM237):c.*74T>C rs190276722 0.00004
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=) rs773344011 0.00004
NM_001044385.3(TMEM237):c.274+11A>G rs200487330 0.00004
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440 0.00004
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=) rs544767440 0.00004
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp) rs370790275 0.00004
NM_001044385.3(TMEM237):c.43-8C>T rs759325746 0.00004
NM_001044385.3(TMEM237):c.541G>A (p.Val181Met) rs755252433 0.00004
NM_001044385.3(TMEM237):c.553+9A>T rs568158023 0.00004
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met) rs374042611 0.00004
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro) rs200892635 0.00004
NM_001044385.3(TMEM237):c.686G>T (p.Gly229Val) rs374399278 0.00004
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter) rs775449384 0.00004
NM_001077418.3(TMEM231):c.139+27C>T rs773052053 0.00004
NM_001077418.3(TMEM231):c.140-33C>T rs901311435 0.00004
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) rs774528098 0.00004
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=) rs760694007 0.00004
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=) rs778118263 0.00004
NM_001077418.3(TMEM231):c.309+12C>A rs561475784 0.00004
NM_001077418.3(TMEM231):c.438+5G>C rs1472951348 0.00004
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln) rs756494100 0.00004
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769 0.00004
NM_001077418.3(TMEM231):c.665-10T>C rs201237881 0.00004
NM_001077418.3(TMEM231):c.759G>A (p.Val253=) rs1020757759 0.00004
NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr) rs770469234 0.00004
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met) rs373660568 0.00004
NM_001077418.3(TMEM231):c.8T>A (p.Leu3His) rs753292136 0.00004
NM_001082538.3(TCTN1):c.712+1G>A rs200863258 0.00004
NM_001128178.3(NPHP1):c.*238T>C rs897567205 0.00004
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val) rs577560349 0.00004
NM_001128178.3(NPHP1):c.1353-9C>A rs376436841 0.00004
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr) rs143231282 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg) rs781531545 0.00004
NM_001128178.3(NPHP1):c.772-11A>T rs189649819 0.00004
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) rs794726975 0.00004
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) rs375317119 0.00004
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile) rs761804458 0.00004
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) rs863225147 0.00004
NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr) rs761596435 0.00004
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val) rs763696602 0.00004
NM_001134831.2(AHI1):c.2492+15G>A rs535243555 0.00004
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln) rs371242173 0.00004
NM_001134831.2(AHI1):c.3329-20A>G rs1004117268 0.00004
NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser) rs1020870112 0.00004
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val) rs200250333 0.00004
NM_001134831.2(AHI1):c.83G>A (p.Arg28His) rs36115433 0.00004
NM_001163809.2(WDR81):c.4602C>T (p.Thr1534=) rs140513521 0.00004
NM_001173990.2(TMEM216):c.-264C>T rs1365742655 0.00004
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln) rs368617773 0.00004
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met) rs541257103 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001329943.3(KIAA0586):c.1031G>A (p.Arg344His) rs773375756 0.00004
NM_001329943.3(KIAA0586):c.1433A>G (p.Asn478Ser) rs773524165 0.00004
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) rs568910724 0.00004
NM_001329943.3(KIAA0586):c.1572A>G (p.Leu524=) rs750393862 0.00004
NM_001329943.3(KIAA0586):c.1847G>C (p.Gly616Ala) rs774592908 0.00004
NM_001329943.3(KIAA0586):c.1885-11T>C rs1344938086 0.00004
NM_001329943.3(KIAA0586):c.2015C>G (p.Pro672Arg) rs749825699 0.00004
NM_001329943.3(KIAA0586):c.2026C>T (p.Pro676Ser) rs967603971 0.00004
NM_001329943.3(KIAA0586):c.2531C>A (p.Pro844His) rs200490147 0.00004
NM_001329943.3(KIAA0586):c.271-11A>G rs752733321 0.00004
NM_001329943.3(KIAA0586):c.3183G>A (p.Thr1061=) rs369590767 0.00004
NM_001329943.3(KIAA0586):c.3257C>T (p.Ser1086Leu) rs772256006 0.00004
NM_001329943.3(KIAA0586):c.3261T>A (p.Asp1087Glu) rs1049863128 0.00004
NM_001329943.3(KIAA0586):c.3528-20A>G rs759897107 0.00004
NM_001329943.3(KIAA0586):c.3556C>A (p.Pro1186Thr) rs368136238 0.00004
NM_001329943.3(KIAA0586):c.3682A>G (p.Ser1228Gly) rs761946256 0.00004
NM_001329943.3(KIAA0586):c.3729C>T (p.Pro1243=) rs377467641 0.00004
NM_001329943.3(KIAA0586):c.3858+10G>A rs1023641988 0.00004
NM_001329943.3(KIAA0586):c.4430-6dup rs755622220 0.00004
NM_001329943.3(KIAA0586):c.4436C>G (p.Pro1479Arg) rs374096160 0.00004
NM_001329943.3(KIAA0586):c.4495+3791G>A rs924361010 0.00004
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=) rs758764999 0.00004
NM_001329943.3(KIAA0586):c.576G>A (p.Pro192=) rs369143869 0.00004
NM_001329943.3(KIAA0586):c.620T>C (p.Val207Ala) rs199837404 0.00004
NM_001329943.3(KIAA0586):c.723T>C (p.His241=) rs373333959 0.00004
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val) rs775138548 0.00004
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn) rs373797532 0.00004
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu) rs370014549 0.00004
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln) rs770896540 0.00004
NM_001382391.1(CSPP1):c.1034A>G (p.Asn345Ser) rs1372095738 0.00004
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter) rs770296270 0.00004
NM_001382391.1(CSPP1):c.1432C>A (p.Pro478Thr) rs371566997 0.00004
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=) rs755838311 0.00004
NM_001382391.1(CSPP1):c.1606A>C (p.Ser536Arg) rs763307442 0.00004
NM_001382391.1(CSPP1):c.1619-4T>C rs774722380 0.00004
NM_001382391.1(CSPP1):c.1683A>G (p.Leu561=) rs754822898 0.00004
NM_001382391.1(CSPP1):c.1776G>A (p.Pro592=) rs201940935 0.00004
NM_001382391.1(CSPP1):c.1827+5T>C rs897591892 0.00004
NM_001382391.1(CSPP1):c.1983G>C (p.Leu661Phe) rs374318063 0.00004
NM_001382391.1(CSPP1):c.2128+16T>G rs770694705 0.00004
NM_001382391.1(CSPP1):c.2161C>T (p.Arg721Trp) rs778822396 0.00004
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys) rs753718429 0.00004
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter) rs587777138 0.00004
NM_001382391.1(CSPP1):c.2784A>G (p.Gln928=) rs754377738 0.00004
NM_001382391.1(CSPP1):c.2829-6C>A rs202184488 0.00004
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser) rs750443075 0.00004
NM_001382391.1(CSPP1):c.3157-16A>G rs374129705 0.00004
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu) rs768603321 0.00004
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln) rs201972175 0.00004
NM_001382391.1(CSPP1):c.484-4A>G rs142440392 0.00004
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter) rs375113643 0.00004
NM_001382391.1(CSPP1):c.865A>G (p.Arg289Gly) rs374744285 0.00004
NM_001382391.1(CSPP1):c.902C>T (p.Ser301Leu) rs761172555 0.00004
NM_001382391.1(CSPP1):c.919G>A (p.Asp307Asn) rs113092257 0.00004
NM_001382391.1(CSPP1):c.924-9G>A rs199910808 0.00004
NM_003383.5(VLDLR):c.*281G>C rs753515879 0.00004
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=) rs372963310 0.00004
NM_003383.5(VLDLR):c.2416+13C>T rs200878136 0.00004
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr) rs116082439 0.00004
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly) rs752128105 0.00004
NM_015272.5(RPGRIP1L):c.1244-18G>A rs923409583 0.00004
NM_015272.5(RPGRIP1L):c.1582-11T>G rs182981308 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu) rs374098422 0.00004
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val) rs769280712 0.00004
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300 0.00004
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys) rs371763050 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg) rs201413825 0.00004
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp) rs750930363 0.00004
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=) rs989489575 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197 0.00004
NM_016464.5(TMEM138):c.193G>A (p.Val65Ile) rs763118625 0.00004
NM_016464.5(TMEM138):c.377-3C>T rs774110963 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_018294.6(CWF19L1):c.349G>T (p.Glu117Ter) rs201230582 0.00004
NM_018718.3(CEP41):c.*3451G>A rs144534675 0.00004
NM_018718.3(CEP41):c.*4385C>T rs556578226 0.00004
NM_018718.3(CEP41):c.*747G>A rs782582354 0.00004
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys) rs371812716 0.00004
NM_018718.3(CEP41):c.13A>G (p.Arg5Gly) rs782048004 0.00004
NM_018718.3(CEP41):c.213C>T (p.Ile71=) rs370498782 0.00004
NM_018718.3(CEP41):c.277+16G>C rs782272723 0.00004
NM_018718.3(CEP41):c.357G>A (p.Ser119=) rs1179996142 0.00004
NM_018718.3(CEP41):c.716T>C (p.Met239Thr) rs200882016 0.00004
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu) rs200709703 0.00004
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg) rs782392521 0.00004
NM_025114.4(CEP290):c.-96C>T rs528270888 0.00004
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00004
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val) rs754736974 0.00004
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val) rs1038566350 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His) rs763801479 0.00004
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His) rs774144082 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.4809T>C (p.Ala1603=) rs372592245 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00004
NM_025114.4(CEP290):c.6271-15C>T rs764251517 0.00004
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_033064.5(ATCAY):c.*1761C>T rs777283516 0.00004
NM_033064.5(ATCAY):c.*939G>A rs886054419 0.00004
NM_033064.5(ATCAY):c.420C>T (p.Asp140=) rs548256146 0.00004
NM_033064.5(ATCAY):c.957C>T (p.Cys319=) rs370680121 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) rs780823805 0.00004
NM_153704.6(TMEM67):c.31A>G (p.Met11Val) rs758761945 0.00004
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln) rs769351856 0.00004
NM_001044385.3(TMEM237):c.*3697G>A rs761856568 0.00003
NM_001044385.3(TMEM237):c.104A>C (p.Lys35Thr) rs776825848 0.00003
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=) rs879874108 0.00003
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val) rs957203033 0.00003
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp) rs972949531 0.00003
NM_001044385.3(TMEM237):c.396-13G>A rs570600190 0.00003
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly) rs771350638 0.00003
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr) rs772074875 0.00003
NM_001044385.3(TMEM237):c.75-8C>T rs1274569461 0.00003
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val) rs768672107 0.00003
NM_001044385.3(TMEM237):c.869+4A>G rs771107990 0.00003
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001077418.2(TMEM231):c.-46G>A rs752769188 0.00003
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser) rs372775075 0.00003
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001077418.3(TMEM231):c.284del (p.Asp95fs) rs750897443 0.00003
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=) rs534627748 0.00003
NM_001077418.3(TMEM231):c.41G>A (p.Ser14Asn) rs769321473 0.00003
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln) rs1033608835 0.00003
NM_001077418.3(TMEM231):c.438+1G>A rs1415483600 0.00003
NM_001077418.3(TMEM231):c.771-4A>C rs199768195 0.00003
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=) rs1412070252 0.00003
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=) rs778531895 0.00003
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser) rs200480007 0.00003
NM_001134831.2(AHI1):c.*1684T>C rs75518881 0.00003
NM_001134831.2(AHI1):c.*387T>G rs886061107 0.00003
NM_001134831.2(AHI1):c.*588A>G rs555215397 0.00003
NM_001134831.2(AHI1):c.-347C>T rs1456963108 0.00003
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362 0.00003
NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=) rs764412921 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908 0.00003
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile) rs200017073 0.00003
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr) rs367875262 0.00003
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala) rs201691998 0.00003
NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=) rs1016306200 0.00003
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile) rs891027780 0.00003
NM_001134831.2(AHI1):c.931+8A>G rs763944345 0.00003
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys) rs928788426 0.00003
NM_001163809.2(WDR81):c.626C>A (p.Pro209His) rs200343855 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_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939 0.00003
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter) rs779260568 0.00003
NM_001329943.3(KIAA0586):c.1160A>G (p.Asn387Ser) rs1168640996 0.00003
NM_001329943.3(KIAA0586):c.1444T>C (p.Ser482Pro) rs375472516 0.00003
NM_001329943.3(KIAA0586):c.1656+4T>C rs368165741 0.00003
NM_001329943.3(KIAA0586):c.1779A>G (p.Lys593=) rs1356132325 0.00003
NM_001329943.3(KIAA0586):c.1797A>T (p.Lys599Asn) rs556030955 0.00003
NM_001329943.3(KIAA0586):c.2198T>C (p.Met733Thr) rs752363556 0.00003
NM_001329943.3(KIAA0586):c.2354G>A (p.Arg785Gln) rs372212501 0.00003
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs) rs1307758243 0.00003
NM_001329943.3(KIAA0586):c.2623G>A (p.Asp875Asn) rs770913768 0.00003
NM_001329943.3(KIAA0586):c.2944+13G>T rs377092455 0.00003
NM_001329943.3(KIAA0586):c.2965G>A (p.Ala989Thr) rs767605168 0.00003
NM_001329943.3(KIAA0586):c.3162A>T (p.Pro1054=) rs749756433 0.00003
NM_001329943.3(KIAA0586):c.3526A>G (p.Ile1176Val) rs777965178 0.00003
NM_001329943.3(KIAA0586):c.3781+20T>G rs770866188 0.00003
NM_001329943.3(KIAA0586):c.3908A>G (p.Lys1303Arg) rs767855931 0.00003
NM_001329943.3(KIAA0586):c.411-1486G>A rs982449380 0.00003
NM_001329943.3(KIAA0586):c.4261A>G (p.Thr1421Ala) rs962979142 0.00003
NM_001329943.3(KIAA0586):c.4473G>A (p.Pro1491=) rs768806838 0.00003
NM_001329943.3(KIAA0586):c.4573G>A (p.Glu1525Lys) rs375085808 0.00003
NM_001329943.3(KIAA0586):c.518T>C (p.Ile173Thr) rs773960033 0.00003
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) rs780520735 0.00003
NM_001329943.3(KIAA0586):c.986C>T (p.Thr329Met) rs747277541 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.2323G>A (p.Glu775Lys) rs751808973 0.00003
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752 0.00003
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg) rs763466980 0.00003
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter) rs529437224 0.00003
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val) rs200044412 0.00003
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878 0.00003
NM_001382391.1(CSPP1):c.1217C>T (p.Ala406Val) rs775268714 0.00003
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) rs752326108 0.00003
NM_001382391.1(CSPP1):c.1453C>T (p.Arg485Cys) rs759265787 0.00003
NM_001382391.1(CSPP1):c.1698-15G>A rs777747860 0.00003
NM_001382391.1(CSPP1):c.1703C>T (p.Thr568Met) rs375847469 0.00003
NM_001382391.1(CSPP1):c.1975+4C>T rs779380282 0.00003
NM_001382391.1(CSPP1):c.2133T>C (p.His711=) rs755593188 0.00003
NM_001382391.1(CSPP1):c.2276G>A (p.Arg759Gln) rs763911288 0.00003
NM_001382391.1(CSPP1):c.2336G>A (p.Arg779Gln) rs780070875 0.00003
NM_001382391.1(CSPP1):c.2711-15A>G rs756159198 0.00003
NM_001382391.1(CSPP1):c.289C>T (p.Arg97Cys) rs374169543 0.00003
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr) rs767140972 0.00003
NM_001382391.1(CSPP1):c.3221-14C>T rs202201525 0.00003
NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val) rs199738369 0.00003
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_001382391.1(CSPP1):c.3364C>T (p.Leu1122Phe) rs1421998303 0.00003
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=) rs376215036 0.00003
NM_001382391.1(CSPP1):c.3559C>T (p.Arg1187Cys) rs781579090 0.00003
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys) rs770271054 0.00003
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val) rs199831541 0.00003
NM_001382391.1(CSPP1):c.935A>G (p.Asn312Ser) rs769726340 0.00003
NM_003383.5(VLDLR):c.2222A>G (p.Asn741Ser) rs371150001 0.00003
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669 0.00003
NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile) rs1211858750 0.00003
NM_014875.3(KIF14):c.3661+1G>T rs151249558 0.00003
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091 0.00003
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg) rs750446830 0.00003
NM_015272.5(RPGRIP1L):c.1244-1G>T rs1306595038 0.00003
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala) rs202201818 0.00003
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys) rs766404857 0.00003
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile) rs145572901 0.00003
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg) rs780023355 0.00003
NM_015272.5(RPGRIP1L):c.2874+1G>C rs753075262 0.00003
NM_015272.5(RPGRIP1L):c.2875-19A>G rs370091137 0.00003
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly) rs372404481 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys) rs1030543863 0.00003
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=) rs762140481 0.00003
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met) rs142387463 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_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849 0.00003
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr) rs772520453 0.00003
NM_016464.5(TMEM138):c.*264C>G rs886048409 0.00003
NM_016464.5(TMEM138):c.187A>G (p.Thr63Ala) rs755251825 0.00003
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu) rs774141923 0.00003
NM_016464.5(TMEM138):c.406C>T (p.Arg136Trp) rs750788154 0.00003
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu) rs763534380 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_018718.3(CEP41):c.*2669A>G rs905679390 0.00003
NM_018718.3(CEP41):c.*2849A>G rs1288708394 0.00003
NM_018718.3(CEP41):c.*3040G>A rs566129615 0.00003
NM_018718.3(CEP41):c.*3044A>G rs886061991 0.00003
NM_018718.3(CEP41):c.*333C>T rs886062000 0.00003
NM_018718.3(CEP41):c.*4007C>T rs782719854 0.00003
NM_018718.3(CEP41):c.*578T>C rs782132140 0.00003
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser) rs782131552 0.00003
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys) rs138907207 0.00003
NM_018718.3(CEP41):c.225C>T (p.Ser75=) rs1402831101 0.00003
NM_018718.3(CEP41):c.33+9C>G rs376019428 0.00003
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter) rs781848162 0.00003
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala) rs782769549 0.00003
NM_018718.3(CEP41):c.510C>T (p.Asp170=) rs782083906 0.00003
NM_018718.3(CEP41):c.536G>A (p.Arg179His) rs140259402 0.00003
NM_018718.3(CEP41):c.643-6T>A rs782610948 0.00003
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn) rs782704307 0.00003
NM_018718.3(CEP41):c.725G>A (p.Arg242His) rs191246968 0.00003
NM_018718.3(CEP41):c.757+11T>C rs1050676312 0.00003
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln) rs782105300 0.00003
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 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.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=) rs777382672 0.00003
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys) rs1337676817 0.00003
NM_025114.4(CEP290):c.442-20_442-19insA rs772322663 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu) rs371737956 0.00003
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly) rs758864226 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00003
NM_032856.5(WDR73):c.518-10G>A rs769933431 0.00003
NM_033064.5(ATCAY):c.*1217A>C rs1459765640 0.00003
NM_033064.5(ATCAY):c.*3018C>T rs887057996 0.00003
NM_033064.5(ATCAY):c.*420C>T rs1044796308 0.00003
NM_033064.5(ATCAY):c.*512G>A rs964128076 0.00003
NM_033064.5(ATCAY):c.-170C>A rs1034699695 0.00003
NM_033064.5(ATCAY):c.1002C>T (p.Ser334=) rs767813874 0.00003
NM_033064.5(ATCAY):c.283G>A (p.Val95Met) rs1381590154 0.00003
NM_033064.5(ATCAY):c.568G>A (p.Ala190Thr) rs537155754 0.00003
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr) rs758803102 0.00003
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617 0.00003
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys) rs375719305 0.00003
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly) rs372886148 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu) rs766782158 0.00003
NM_001044385.3(TMEM237):c.137-3T>C rs540193518 0.00002
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser) rs1269827788 0.00002
NM_001044385.3(TMEM237):c.206C>G (p.Thr69Ser) rs372581479 0.00002
NM_001044385.3(TMEM237):c.274+18G>A rs762194214 0.00002
NM_001044385.3(TMEM237):c.353C>T (p.Pro118Leu) rs17856844 0.00002
NM_001044385.3(TMEM237):c.553+1G>A rs80034299 0.00002
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp) rs754056989 0.00002
NM_001044385.3(TMEM237):c.74+16A>G rs538615771 0.00002
NM_001044385.3(TMEM237):c.75-7G>A rs1443411958 0.00002
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=) rs934193386 0.00002
NM_001044385.3(TMEM237):c.943+1G>T rs748510210 0.00002
NM_001077418.3(TMEM231):c.-17G>A rs768513169 0.00002
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr) rs1197109885 0.00002
NM_001077418.3(TMEM231):c.139+17C>T rs759518508 0.00002
NM_001077418.3(TMEM231):c.140-35C>T rs750621210 0.00002
NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln) rs771783989 0.00002
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447 0.00002
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly) rs774091057 0.00002
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser) rs775968168 0.00002
NM_001077418.3(TMEM231):c.309+20G>T rs1186787656 0.00002
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=) rs774761408 0.00002
NM_001077418.3(TMEM231):c.456G>A (p.Val152=) rs571562822 0.00002
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr) rs768932063 0.00002
NM_001077418.3(TMEM231):c.582+9G>A rs1266194059 0.00002
NM_001077418.3(TMEM231):c.5C>T (p.Ala2Val) rs778298588 0.00002
NM_001077418.3(TMEM231):c.617A>G (p.Tyr206Cys) rs374279951 0.00002
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr) rs775383043 0.00002
NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu) rs761280513 0.00002
NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp) rs770715825 0.00002
NM_001128178.3(NPHP1):c.1434C>T (p.His478=) rs148809478 0.00002
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly) rs755592231 0.00002
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=) rs1266229950 0.00002
NM_001128178.3(NPHP1):c.1643-3C>T rs202167187 0.00002
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys) rs753549193 0.00002
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys) rs762244069 0.00002
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln) rs751387472 0.00002
NM_001134831.2(AHI1):c.*1426A>T rs886061101 0.00002
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg) rs539194432 0.00002
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=) rs371835751 0.00002
NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser) rs773892320 0.00002
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp) rs748010693 0.00002
NM_001134831.2(AHI1):c.191C>A (p.Pro64His) rs574938408 0.00002
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs) rs1445681647 0.00002
NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala) rs372012542 0.00002
NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln) rs775785006 0.00002
NM_001134831.2(AHI1):c.2560T>C (p.Cys854Arg) rs1387769677 0.00002
NM_001134831.2(AHI1):c.2623+12T>C rs763402338 0.00002
NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu) rs1170550561 0.00002
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr) rs750383545 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala) rs1380307778 0.00002
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln) rs372888581 0.00002
NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=) rs201791936 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 0.00002
NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu) rs773359044 0.00002
NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu) rs746252411 0.00002
NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=) rs760895795 0.00002
NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys) rs886540540 0.00002
NM_001173990.3(TMEM216):c.*335G>A rs886048414 0.00002
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val) rs1441727203 0.00002
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=) rs147267631 0.00002
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528 0.00002
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) rs769285695 0.00002
NM_001244189.2(KIAA0586):c.4T>C (p.Phe2Leu) rs1251319519 0.00002
NM_001244189.2(KIAA0586):c.9+14C>T rs1036728165 0.00002
NM_001244189.2(KIAA0586):c.9+1G>A rs1490434047 0.00002
NM_001329943.3(KIAA0586):c.1130-14C>G rs1457711769 0.00002
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys) rs772739103 0.00002
NM_001329943.3(KIAA0586):c.1478G>C (p.Gly493Ala) rs780301208 0.00002
NM_001329943.3(KIAA0586):c.1529G>A (p.Arg510His) rs749710241 0.00002
NM_001329943.3(KIAA0586):c.1656+7C>A rs777449141 0.00002
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys) rs1040832003 0.00002
NM_001329943.3(KIAA0586):c.2171A>G (p.Gln724Arg) rs758553529 0.00002
NM_001329943.3(KIAA0586):c.2201C>G (p.Pro734Arg) rs372160214 0.00002
NM_001329943.3(KIAA0586):c.2269A>G (p.Asn757Asp) rs770532816 0.00002
NM_001329943.3(KIAA0586):c.2279C>A (p.Thr760Asn) rs745459956 0.00002
NM_001329943.3(KIAA0586):c.2288C>T (p.Pro763Leu) rs762324359 0.00002
NM_001329943.3(KIAA0586):c.2338A>G (p.Ile780Val) rs752597351 0.00002
NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter) rs1064793157 0.00002
NM_001329943.3(KIAA0586):c.2634+4A>G rs1373493143 0.00002
NM_001329943.3(KIAA0586):c.269G>A (p.Ser90Asn) rs780403471 0.00002
NM_001329943.3(KIAA0586):c.2743G>A (p.Ala915Thr) rs757075176 0.00002
NM_001329943.3(KIAA0586):c.2765C>T (p.Ala922Val) rs778611816 0.00002
NM_001329943.3(KIAA0586):c.2810A>G (p.Asn937Ser) rs1287641719 0.00002
NM_001329943.3(KIAA0586):c.2984A>G (p.Asp995Gly) rs368583200 0.00002
NM_001329943.3(KIAA0586):c.3030C>T (p.Asn1010=) rs769869324 0.00002
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) rs540255320 0.00002
NM_001329943.3(KIAA0586):c.3259G>A (p.Asp1087Asn) rs780444812 0.00002
NM_001329943.3(KIAA0586):c.3260A>G (p.Asp1087Gly) rs747213685 0.00002
NM_001329943.3(KIAA0586):c.3343A>G (p.Thr1115Ala) rs773967297 0.00002
NM_001329943.3(KIAA0586):c.3432A>C (p.Ser1144=) rs1031513625 0.00002
NM_001329943.3(KIAA0586):c.3511C>G (p.Leu1171Val) rs752970542 0.00002
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter) rs373763986 0.00002
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter) rs776003330 0.00002
NM_001329943.3(KIAA0586):c.3782-18T>C rs1430875009 0.00002
NM_001329943.3(KIAA0586):c.3849C>T (p.Ala1283=) rs113191202 0.00002
NM_001329943.3(KIAA0586):c.3894G>A (p.Arg1298=) rs1375416810 0.00002
NM_001329943.3(KIAA0586):c.3971A>G (p.Gln1324Arg) rs554032625 0.00002
NM_001329943.3(KIAA0586):c.4093C>T (p.Pro1365Ser) rs776582851 0.00002
NM_001329943.3(KIAA0586):c.411-1420A>G rs1037899594 0.00002
NM_001329943.3(KIAA0586):c.4169-8G>C rs766302985 0.00002
NM_001329943.3(KIAA0586):c.4207A>G (p.Met1403Val) rs890327400 0.00002
NM_001329943.3(KIAA0586):c.4451G>A (p.Arg1484Gln) rs746312329 0.00002
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897 0.00002
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser) rs757161449 0.00002
NM_001329943.3(KIAA0586):c.836C>T (p.Thr279Ile) rs779264142 0.00002
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu) rs543650388 0.00002
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg) rs1718235188 0.00002
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp) rs541135799 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 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.3688C>T (p.Arg1230Ter) rs1022325907 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379 0.00002
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser) rs745599580 0.00002
NM_001378615.1(CC2D2A):c.4688C>G (p.Pro1563Arg) rs886059186 0.00002
NM_001382391.1(CSPP1):c.-10-4A>T rs762753703 0.00002
NM_001382391.1(CSPP1):c.-96C>T rs751458139 0.00002
NM_001382391.1(CSPP1):c.1188-16del rs773422166 0.00002
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala) rs533327313 0.00002
NM_001382391.1(CSPP1):c.1618+16G>A rs768004861 0.00002
NM_001382391.1(CSPP1):c.1651G>A (p.Ala551Thr) rs373749366 0.00002
NM_001382391.1(CSPP1):c.1684G>A (p.Ala562Thr) rs781313362 0.00002
NM_001382391.1(CSPP1):c.1976-2A>G rs1320076769 0.00002
NM_001382391.1(CSPP1):c.1984A>G (p.Asn662Asp) rs746165769 0.00002
NM_001382391.1(CSPP1):c.2032A>C (p.Arg678=) rs762725926 0.00002
NM_001382391.1(CSPP1):c.2128+10C>A rs769248386 0.00002
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter) rs771203308 0.00002
NM_001382391.1(CSPP1):c.2314C>T (p.Arg772Trp) rs369228037 0.00002
NM_001382391.1(CSPP1):c.2329A>C (p.Arg777=) rs758218835 0.00002
NM_001382391.1(CSPP1):c.2392-14T>C rs781185001 0.00002
NM_001382391.1(CSPP1):c.2624T>C (p.Ile875Thr) rs751572039 0.00002
NM_001382391.1(CSPP1):c.2762G>A (p.Arg921His) rs376724794 0.00002
NM_001382391.1(CSPP1):c.2777G>A (p.Arg926His) rs775629891 0.00002
NM_001382391.1(CSPP1):c.2919C>T (p.Asp973=) rs759957152 0.00002
NM_001382391.1(CSPP1):c.2968+10T>C rs374325149 0.00002
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu) rs755275549 0.00002
NM_001382391.1(CSPP1):c.3221-19C>T rs750846829 0.00002
NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser) rs200930857 0.00002
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp) rs759630451 0.00002
NM_001382391.1(CSPP1):c.3330+11G>A rs1339355378 0.00002
NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter) rs201261521 0.00002
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=) rs552763349 0.00002
NM_001382391.1(CSPP1):c.3638C>G (p.Pro1213Arg) rs527426163 0.00002
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) rs749332092 0.00002
NM_001382391.1(CSPP1):c.404G>A (p.Arg135His) rs1386679081 0.00002
NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs) rs750696284 0.00002
NM_001382391.1(CSPP1):c.483+10G>C rs758310938 0.00002
NM_001382391.1(CSPP1):c.683A>G (p.Asn228Ser) rs765332591 0.00002
NM_001382391.1(CSPP1):c.729C>G (p.Asn243Lys) rs749026327 0.00002
NM_001382391.1(CSPP1):c.744G>A (p.Arg248=) rs1395679668 0.00002
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys) rs114953032 0.00002
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His) rs781737308 0.00002
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg) rs377496424 0.00002
NM_001382391.1(CSPP1):c.945G>A (p.Gly315=) rs759906585 0.00002
NM_001382391.1(CSPP1):c.972G>C (p.Gly324=) rs750069772 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_003383.5(VLDLR):c.*192C>T rs763576733 0.00002
NM_003383.5(VLDLR):c.*21C>T rs776834603 0.00002
NM_003383.5(VLDLR):c.-121C>T rs886063803 0.00002
NM_003383.5(VLDLR):c.-154C>G rs985479340 0.00002
NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr) rs778029251 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.1329dup (p.Arg444fs) rs749987648 0.00002
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His) rs371028848 0.00002
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=) rs966605945 0.00002
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn) rs759934290 0.00002
NM_015272.5(RPGRIP1L):c.231-4C>A rs774628905 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln) rs146484603 0.00002
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln) rs376330325 0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826 0.00002
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His) rs1410635948 0.00002
NM_015272.5(RPGRIP1L):c.3835+3A>G rs769218955 0.00002
NM_016464.5(TMEM138):c.*548G>A rs1565080891 0.00002
NM_016464.5(TMEM138):c.128+8C>T rs769334895 0.00002
NM_016464.5(TMEM138):c.136G>C (p.Asp46His) rs375503806 0.00002
NM_016464.5(TMEM138):c.192C>T (p.Phe64=) rs199841349 0.00002
NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys) rs202210746 0.00002
NM_016464.5(TMEM138):c.426C>T (p.Gly142=) rs781330063 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_018718.3(CEP41):c.*2605C>T rs886061992 0.00002
NM_018718.3(CEP41):c.*277A>G rs886062001 0.00002
NM_018718.3(CEP41):c.*4417G>A rs886061988 0.00002
NM_018718.3(CEP41):c.*4464T>C rs886061987 0.00002
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg) rs782371437 0.00002
NM_018718.3(CEP41):c.1050T>G (p.Gly350=) rs374440977 0.00002
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr) rs201490201 0.00002
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter) rs139909606 0.00002
NM_018718.3(CEP41):c.205C>T (p.Leu69=) rs144793783 0.00002
NM_018718.3(CEP41):c.277+19G>A rs377242873 0.00002
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165 0.00002
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser) rs781914996 0.00002
NM_018718.3(CEP41):c.589A>T (p.Ile197Phe) rs782265732 0.00002
NM_018718.3(CEP41):c.653A>C (p.His218Pro) rs527896814 0.00002
NM_018718.3(CEP41):c.664A>G (p.Ile222Val) rs560824415 0.00002
NM_018718.3(CEP41):c.723G>A (p.Glu241=) rs782303641 0.00002
NM_018718.3(CEP41):c.781T>C (p.Phe261Leu) rs782241458 0.00002
NM_018718.3(CEP41):c.812C>T (p.Pro271Leu) rs782704918 0.00002
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys) rs763992407 0.00002
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122 0.00002
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp) rs372963403 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp) rs750466529 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_025114.4(CEP290):c.4030-14A>G rs910563325 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=) rs778794581 0.00002
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=) rs747996508 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 0.00002
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=) rs752046733 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 0.00002
NM_025114.4(CEP290):c.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_032856.5(WDR73):c.1130C>T (p.Pro377Leu) rs887302155 0.00002
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) rs797044992 0.00002
NM_033064.5(ATCAY):c.*1167G>A rs751398427 0.00002
NM_033064.5(ATCAY):c.*1276G>A rs974409532 0.00002
NM_033064.5(ATCAY):c.544+6dup rs749475336 0.00002
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln) rs776677392 0.00002
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr) rs149475825 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00002
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val) rs758944470 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys) rs768183184 0.00002
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly) rs115766095 0.00002
NM_153704.6(TMEM67):c.979-16C>T rs757127826 0.00002
NM_001009894.3(RLIG1):c.*611A>G rs2033206514 0.00001
NM_001044385.3(TMEM237):c.*1330C>T rs1016616892 0.00001
NM_001044385.3(TMEM237):c.*1378A>G rs886055443 0.00001
NM_001044385.3(TMEM237):c.*1561G>A rs563393191 0.00001
NM_001044385.3(TMEM237):c.*1603T>G rs886055442 0.00001
NM_001044385.3(TMEM237):c.*1835C>T rs1414626161 0.00001
NM_001044385.3(TMEM237):c.*1965G>A rs947203821 0.00001
NM_001044385.3(TMEM237):c.*2044T>C rs886055440 0.00001
NM_001044385.3(TMEM237):c.*2495C>G rs1459433205 0.00001
NM_001044385.3(TMEM237):c.*3997A>G rs1387630894 0.00001
NM_001044385.3(TMEM237):c.*3C>A rs749132259 0.00001
NM_001044385.3(TMEM237):c.-59G>A rs886055449 0.00001
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu) rs1559590115 0.00001
NM_001044385.3(TMEM237):c.1038-6T>G rs758523904 0.00001
NM_001044385.3(TMEM237):c.1135A>T (p.Arg379Trp) rs747158935 0.00001
NM_001044385.3(TMEM237):c.1144A>G (p.Met382Val) rs1437714395 0.00001
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=) rs770907860 0.00001
NM_001044385.3(TMEM237):c.1159+20G>A rs1162670210 0.00001
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys) rs373445814 0.00001
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=) rs1317494328 0.00001
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=) rs747915597 0.00001
NM_001044385.3(TMEM237):c.136+17T>C rs1461794959 0.00001
NM_001044385.3(TMEM237):c.136+1G>T rs778823927 0.00001
NM_001044385.3(TMEM237):c.136+7C>T rs768764111 0.00001
NM_001044385.3(TMEM237):c.231G>T (p.Glu77Asp) rs779250127 0.00001
NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter) rs1687223389 0.00001
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys) rs1186656902 0.00001
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val) rs759392151 0.00001
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val) rs772680401 0.00001
NM_001044385.3(TMEM237):c.42+15G>A rs1461749315 0.00001
NM_001044385.3(TMEM237):c.428A>G (p.Asn143Ser) rs750312169 0.00001
NM_001044385.3(TMEM237):c.43-6C>T rs886974025 0.00001
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala) rs184256195 0.00001
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu) rs771052304 0.00001
NM_001044385.3(TMEM237):c.469C>A (p.Gln157Lys) rs762678333 0.00001
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=) rs1466574515 0.00001
NM_001044385.3(TMEM237):c.553C>A (p.Arg185=) rs754056989 0.00001
NM_001044385.3(TMEM237):c.575G>A (p.Arg192His) rs186216206 0.00001
NM_001044385.3(TMEM237):c.59T>C (p.Leu20Pro) rs373956551 0.00001
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr) rs773685442 0.00001
NM_001044385.3(TMEM237):c.665A>G (p.His222Arg) rs749330370 0.00001
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080 0.00001
NM_001044385.3(TMEM237):c.677+1G>A rs793888505 0.00001
NM_001044385.3(TMEM237):c.714C>G (p.Gly238=) rs370681829 0.00001
NM_001044385.3(TMEM237):c.716G>C (p.Cys239Ser) rs769694232 0.00001
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met) rs759814109 0.00001
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001044385.3(TMEM237):c.869+5T>C rs530769303 0.00001
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val) rs773512396 0.00001
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys) rs1209527419 0.00001
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln) rs745540263 0.00001
NM_001044385.3(TMEM237):c.943+5G>A rs779322966 0.00001
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His) rs576586379 0.00001
NM_001077418.2(TMEM231):c.-44C>A rs1419518232 0.00001
NM_001077418.3(TMEM231):c.-12C>G rs745498623 0.00001
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) rs1597051521 0.00001
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp) rs750674092 0.00001
NM_001077418.3(TMEM231):c.139+23G>A rs770598456 0.00001
NM_001077418.3(TMEM231):c.139+24C>T rs746632596 0.00001
NM_001077418.3(TMEM231):c.139+25C>T rs1474874368 0.00001
NM_001077418.3(TMEM231):c.139+39G>T rs1448302846 0.00001
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=) rs1444231443 0.00001
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg) rs766492182 0.00001
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser) rs541195377 0.00001
NM_001077418.3(TMEM231):c.263C>T (p.Ala88Val) rs1309156955 0.00001
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn) rs759954710 0.00001
NM_001077418.3(TMEM231):c.356A>G (p.His119Arg) rs1255071095 0.00001
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro) rs1202833405 0.00001
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val) rs750935858 0.00001
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser) rs566395744 0.00001
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser) rs778407563 0.00001
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=) rs751631216 0.00001
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg) rs763194213 0.00001
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=) rs748111030 0.00001
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter) rs543122080 0.00001
NM_001077418.3(TMEM231):c.582+1G>A rs752141701 0.00001
NM_001077418.3(TMEM231):c.583-10C>T rs774265542 0.00001
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met) rs745485432 0.00001
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=) rs959165450 0.00001
NM_001077418.3(TMEM231):c.665-3C>T rs780063686 0.00001
NM_001077418.3(TMEM231):c.673G>A (p.Val225Ile) rs746055228 0.00001
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=) rs750043051 0.00001
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) rs746025189 0.00001
NM_001077418.3(TMEM231):c.72G>C (p.Ala24=) rs746685376 0.00001
NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu) rs1230743826 0.00001
NM_001077418.3(TMEM231):c.770+18G>T rs1413880610 0.00001
NM_001077418.3(TMEM231):c.771-6C>A rs1160382019 0.00001
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val) rs768632156 0.00001
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=) rs759314500 0.00001
NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln) rs746970206 0.00001
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=) rs1435643293 0.00001
NM_001080522.2(CC2D2A):c.*144A>C rs920755267 0.00001
NM_001128178.3(NPHP1):c.*322A>G rs886054752 0.00001
NM_001128178.3(NPHP1):c.-17G>A rs566875282 0.00001
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu) rs780706360 0.00001
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg) rs746482479 0.00001
NM_001128178.3(NPHP1):c.1270-1G>A rs376492641 0.00001
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys) rs1186755904 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys) rs1283995363 0.00001
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly) rs951115963 0.00001
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) rs147090619 0.00001
NM_001128178.3(NPHP1):c.1716+15T>C rs368590150 0.00001
NM_001128178.3(NPHP1):c.1716+1G>T rs1233478832 0.00001
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys) rs543675502 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr) rs1212945698 0.00001
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu) rs760772706 0.00001
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) rs767719020 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn) rs781291281 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=) rs548684868 0.00001
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) rs143163969 0.00001
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu) rs753605280 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001128178.3(NPHP1):c.771+3G>A rs1365022834 0.00001
NM_001128178.3(NPHP1):c.771+78G>A rs762350912 0.00001
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr) rs751003854 0.00001
NM_001134831.2(AHI1):c.*1327C>T rs371457794 0.00001
NM_001134831.2(AHI1):c.*1646T>C rs886061100 0.00001
NM_001134831.2(AHI1):c.*68C>T rs886061108 0.00001
NM_001134831.2(AHI1):c.*80C>T rs536580823 0.00001
NM_001134831.2(AHI1):c.-54G>T rs1162660693 0.00001
NM_001134831.2(AHI1):c.1152-2A>G rs753085250 0.00001
NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp) rs183862577 0.00001
NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys) rs561883150 0.00001
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg) rs1264460804 0.00001
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143 0.00001
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys) rs777952691 0.00001
NM_001134831.2(AHI1):c.145A>G (p.Ile49Val) rs533707253 0.00001
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003 0.00001
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg) rs766231229 0.00001
NM_001134831.2(AHI1):c.1626+1G>A rs863225137 0.00001
NM_001134831.2(AHI1):c.1683G>A (p.Val561=) rs757056964 0.00001
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632 0.00001
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=) rs886038629 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.190-17A>G rs762843841 0.00001
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met) rs780336496 0.00001
NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser) rs1257057591 0.00001
NM_001134831.2(AHI1):c.1933C>T (p.Arg645Cys) rs1291908829 0.00001
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val) rs541041911 0.00001
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro) rs1785745572 0.00001
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala) rs780154667 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 0.00001
NM_001134831.2(AHI1):c.2172del (p.Trp725fs) rs755407014 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu) rs1348260638 0.00001
NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp) rs1362092820 0.00001
NM_001134831.2(AHI1):c.2492+3A>G rs951268770 0.00001
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys) rs767879919 0.00001
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser) rs1380121460 0.00001
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val) rs759069413 0.00001
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) rs863225135 0.00001
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp) rs368788993 0.00001
NM_001134831.2(AHI1):c.2718A>G (p.Ala906=) rs765434425 0.00001
NM_001134831.2(AHI1):c.2765-9T>C rs374852342 0.00001
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792 0.00001
NM_001134831.2(AHI1):c.2795G>A (p.Arg932His) rs1301526139 0.00001
NM_001134831.2(AHI1):c.279C>T (p.Ser93=) rs1205189543 0.00001
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=) rs775305093 0.00001
NM_001134831.2(AHI1):c.281C>T (p.Thr94Met) rs373490556 0.00001
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792 0.00001
NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg) rs1183310371 0.00001
NM_001134831.2(AHI1):c.2962-13G>A rs927158679 0.00001
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter) rs774628957 0.00001
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr) rs1261277645 0.00001
NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr) rs749649946 0.00001
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=) rs756637497 0.00001
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser) rs776053386 0.00001
NM_001134831.2(AHI1):c.3426+6T>A rs1267329906 0.00001
NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val) rs766168872 0.00001
NM_001134831.2(AHI1):c.3485+6C>T rs748866983 0.00001
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val) rs776098993 0.00001
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) rs140836078 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro) rs770822998 0.00001
NM_001134831.2(AHI1):c.532G>A (p.Glu178Lys) rs1245690441 0.00001
NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr) rs1032930574 0.00001
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716 0.00001
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter) rs863225142 0.00001
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr) rs759553258 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter) rs1194329020 0.00001
NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu) rs992608564 0.00001
NM_001163809.2(WDR81):c.1604G>A (p.Arg535His) rs563732828 0.00001
NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln) rs1203128651 0.00001
NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr) rs766140596 0.00001
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001163809.2(WDR81):c.5179+6C>T rs748777672 0.00001
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) rs762607878 0.00001
NM_001173990.2(TMEM216):c.-242C>T rs756981776 0.00001
NM_001173990.3(TMEM216):c.*377T>C rs1260385076 0.00001
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln) rs548299486 0.00001
NM_001173990.3(TMEM216):c.191del (p.Leu64fs) rs1858737558 0.00001
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) rs1287246452 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) rs1057517512 0.00001
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) rs1554972406 0.00001
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) rs528921796 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys) rs774225426 0.00001
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr) rs367737418 0.00001
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp) rs528271337 0.00001
NM_001329943.3(KIAA0586):c.*10G>A rs1280881561 0.00001
NM_001329943.3(KIAA0586):c.*24del rs775748329 0.00001
NM_001329943.3(KIAA0586):c.1007C>G (p.Ser336Cys) rs781781110 0.00001
NM_001329943.3(KIAA0586):c.103T>A (p.Leu35Met) rs769423672 0.00001
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile) rs771000156 0.00001
NM_001329943.3(KIAA0586):c.1048_1049insACA (p.Pro350delinsHisThr) rs1406399353 0.00001
NM_001329943.3(KIAA0586):c.1059G>A (p.Arg353=) rs1283583747 0.00001
NM_001329943.3(KIAA0586):c.1078A>T (p.Arg360Trp) rs932782936 0.00001
NM_001329943.3(KIAA0586):c.1206C>T (p.Thr402=) rs779005063 0.00001
NM_001329943.3(KIAA0586):c.1253+4A>G rs1182604650 0.00001
NM_001329943.3(KIAA0586):c.1254-7C>T rs371116548 0.00001
NM_001329943.3(KIAA0586):c.1323C>T (p.Asp441=) rs574658488 0.00001
NM_001329943.3(KIAA0586):c.1341A>G (p.Lys447=) rs755857778 0.00001
NM_001329943.3(KIAA0586):c.1362+12A>G rs374756414 0.00001
NM_001329943.3(KIAA0586):c.1363-18G>A rs767847589 0.00001
NM_001329943.3(KIAA0586):c.1396G>A (p.Asp466Asn) rs757196467 0.00001
NM_001329943.3(KIAA0586):c.1414G>A (p.Val472Ile) rs779792778 0.00001
NM_001329943.3(KIAA0586):c.1516G>A (p.Glu506Lys) rs746704306 0.00001
NM_001329943.3(KIAA0586):c.1528C>T (p.Arg510Cys) rs778123212 0.00001
NM_001329943.3(KIAA0586):c.154C>T (p.Arg52Cys) rs1445118511 0.00001
NM_001329943.3(KIAA0586):c.1557G>A (p.Ser519=) rs527483829 0.00001
NM_001329943.3(KIAA0586):c.155G>A (p.Arg52His) rs753917457 0.00001
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val) rs556274091 0.00001
NM_001329943.3(KIAA0586):c.1574C>G (p.Ser525Cys) rs1173352052 0.00001
NM_001329943.3(KIAA0586):c.1588A>T (p.Met530Leu) rs747120591 0.00001
NM_001329943.3(KIAA0586):c.1656+11G>A rs2040060841 0.00001
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NM_001329943.3(KIAA0586):c.1676A>G (p.Asp559Gly) rs1020004939 0.00001
NM_001329943.3(KIAA0586):c.1738A>G (p.Lys580Glu) rs1297075839 0.00001
NM_001329943.3(KIAA0586):c.1745T>C (p.Ile582Thr) rs1039498791 0.00001
NM_001329943.3(KIAA0586):c.1791A>G (p.Pro597=) rs1202169940 0.00001
NM_001329943.3(KIAA0586):c.1885-2A>G rs1431898844 0.00001
NM_001329943.3(KIAA0586):c.1918G>A (p.Glu640Lys) rs1595193868 0.00001
NM_001329943.3(KIAA0586):c.1967G>A (p.Arg656Gln) rs1047721846 0.00001
NM_001329943.3(KIAA0586):c.199+6T>A rs764690540 0.00001
NM_001329943.3(KIAA0586):c.200-15C>T rs764593812 0.00001
NM_001329943.3(KIAA0586):c.2010A>G (p.Pro670=) rs185266107 0.00001
NM_001329943.3(KIAA0586):c.201T>C (p.Gly67=) rs750714192 0.00001
NM_001329943.3(KIAA0586):c.2028A>G (p.Pro676=) rs559438142 0.00001
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter) rs749475936 0.00001
NM_001329943.3(KIAA0586):c.2051G>A (p.Arg684Gln) rs547990270 0.00001
NM_001329943.3(KIAA0586):c.2092G>T (p.Asp698Tyr) rs371583234 0.00001
NM_001329943.3(KIAA0586):c.2104A>G (p.Thr702Ala) rs558410911 0.00001
NM_001329943.3(KIAA0586):c.2119A>G (p.Met707Val) rs1200934389 0.00001
NM_001329943.3(KIAA0586):c.2123A>G (p.Asp708Gly) rs373601253 0.00001
NM_001329943.3(KIAA0586):c.2228A>T (p.His743Leu) rs1190897774 0.00001
NM_001329943.3(KIAA0586):c.2255-11A>G rs752712583 0.00001
NM_001329943.3(KIAA0586):c.2295A>C (p.Gly765=) rs200937470 0.00001
NM_001329943.3(KIAA0586):c.2402T>A (p.Met801Lys) rs1267499182 0.00001
NM_001329943.3(KIAA0586):c.2417A>G (p.Lys806Arg) rs773759282 0.00001
NM_001329943.3(KIAA0586):c.2418G>C (p.Lys806Asn) rs922088604 0.00001
NM_001329943.3(KIAA0586):c.245T>C (p.Leu82Ser) rs955530356 0.00001
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) rs1410766981 0.00001
NM_001329943.3(KIAA0586):c.2505G>C (p.Leu835=) rs751246498 0.00001
NM_001329943.3(KIAA0586):c.2511C>A (p.Ser837Arg) rs377409718 0.00001
NM_001329943.3(KIAA0586):c.2533C>T (p.Pro845Ser) rs377023593 0.00001
NM_001329943.3(KIAA0586):c.2629A>C (p.Ile877Leu) rs1338718674 0.00001
NM_001329943.3(KIAA0586):c.2634+20A>G rs546773198 0.00001
NM_001329943.3(KIAA0586):c.2635-17G>T rs1478236874 0.00001
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly) rs770688785 0.00001
NM_001329943.3(KIAA0586):c.2719A>G (p.Asn907Asp) rs1261333772 0.00001
NM_001329943.3(KIAA0586):c.2728C>T (p.Pro910Ser) rs752882356 0.00001
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) rs537951340 0.00001
NM_001329943.3(KIAA0586):c.2822A>T (p.Gln941Leu) rs768032063 0.00001
NM_001329943.3(KIAA0586):c.2823A>G (p.Gln941=) rs776447854 0.00001
NM_001329943.3(KIAA0586):c.285C>T (p.Asp95=) rs527601211 0.00001
NM_001329943.3(KIAA0586):c.2862G>A (p.Gly954=) rs746874985 0.00001
NM_001329943.3(KIAA0586):c.2866T>C (p.Phe956Leu) rs943207254 0.00001
NM_001329943.3(KIAA0586):c.2908G>A (p.Val970Ile) rs368808852 0.00001
NM_001329943.3(KIAA0586):c.2912G>A (p.Ser971Asn) rs3783696 0.00001
NM_001329943.3(KIAA0586):c.2932_2944+4del rs1278372009 0.00001
NM_001329943.3(KIAA0586):c.2938G>C (p.Asp980His) rs754818478 0.00001
NM_001329943.3(KIAA0586):c.2944+4A>C rs372841738 0.00001
NM_001329943.3(KIAA0586):c.2947G>A (p.Glu983Lys) rs563109987 0.00001
NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs) rs1364954371 0.00001
NM_001329943.3(KIAA0586):c.3143C>T (p.Pro1048Leu) rs369859399 0.00001
NM_001329943.3(KIAA0586):c.3170C>T (p.Thr1057Ile) rs772489368 0.00001
NM_001329943.3(KIAA0586):c.3205C>T (p.Pro1069Ser) rs766060506 0.00001
NM_001329943.3(KIAA0586):c.3246T>G (p.Ser1082=) rs779554669 0.00001
NM_001329943.3(KIAA0586):c.3247C>T (p.Pro1083Ser) rs373431045 0.00001
NM_001329943.3(KIAA0586):c.3304+19T>A rs759164063 0.00001
NM_001329943.3(KIAA0586):c.3325A>G (p.Met1109Val) rs773159825 0.00001
NM_001329943.3(KIAA0586):c.3350C>A (p.Thr1117Asn) rs758962196 0.00001
NM_001329943.3(KIAA0586):c.3375G>A (p.Ala1125=) rs765655962 0.00001
NM_001329943.3(KIAA0586):c.3391C>T (p.Pro1131Ser) rs1413013409 0.00001
NM_001329943.3(KIAA0586):c.340+7G>T rs763185199 0.00001
NM_001329943.3(KIAA0586):c.3404A>G (p.Asp1135Gly) rs751729993 0.00001
NM_001329943.3(KIAA0586):c.3422T>C (p.Leu1141Ser) rs755937342 0.00001
NM_001329943.3(KIAA0586):c.3450G>C (p.Lys1150Asn) rs199517530 0.00001
NM_001329943.3(KIAA0586):c.3515A>T (p.His1172Leu) rs1190269049 0.00001
NM_001329943.3(KIAA0586):c.3527+12C>T rs1369279718 0.00001
NM_001329943.3(KIAA0586):c.3542C>G (p.Ala1181Gly) rs910865335 0.00001
NM_001329943.3(KIAA0586):c.3594A>G (p.Pro1198=) rs764114899 0.00001
NM_001329943.3(KIAA0586):c.3599C>T (p.Pro1200Leu) rs539304161 0.00001
NM_001329943.3(KIAA0586):c.3633G>A (p.Lys1211=) rs780785984 0.00001
NM_001329943.3(KIAA0586):c.3679G>C (p.Glu1227Gln) rs560315226 0.00001
NM_001329943.3(KIAA0586):c.3687A>G (p.Thr1229=) rs773464253 0.00001
NM_001329943.3(KIAA0586):c.3696T>C (p.Val1232=) rs1480788246 0.00001
NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs) rs1253807820 0.00001
NM_001329943.3(KIAA0586):c.3715A>G (p.Thr1239Ala) rs201889432 0.00001
NM_001329943.3(KIAA0586):c.3717T>G (p.Thr1239=) rs758690971 0.00001
NM_001329943.3(KIAA0586):c.3750A>G (p.Leu1250=) rs1222178512 0.00001
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187 0.00001
NM_001329943.3(KIAA0586):c.3791A>T (p.Asp1264Val) rs1223415414 0.00001
NM_001329943.3(KIAA0586):c.3797G>C (p.Gly1266Ala) rs1256817386 0.00001
NM_001329943.3(KIAA0586):c.3816T>C (p.Leu1272=) rs755315601 0.00001
NM_001329943.3(KIAA0586):c.3819T>C (p.Asn1273=) rs970331206 0.00001
NM_001329943.3(KIAA0586):c.3857T>C (p.Met1286Thr) rs1256644781 0.00001
NM_001329943.3(KIAA0586):c.3858+8A>G rs370569855 0.00001
NM_001329943.3(KIAA0586):c.3884A>G (p.Gln1295Arg) rs1019828731 0.00001
NM_001329943.3(KIAA0586):c.3885A>C (p.Gln1295His) rs779179754 0.00001
NM_001329943.3(KIAA0586):c.3910T>A (p.Phe1304Ile) rs1441855459 0.00001
NM_001329943.3(KIAA0586):c.3914A>T (p.His1305Leu) rs966912655 0.00001
NM_001329943.3(KIAA0586):c.3935T>C (p.Phe1312Ser) rs912168236 0.00001
NM_001329943.3(KIAA0586):c.3948C>T (p.Asn1316=) rs1437021057 0.00001
NM_001329943.3(KIAA0586):c.3G>A (p.Met1Ile) rs775143643 0.00001
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) rs1566903524 0.00001
NM_001329943.3(KIAA0586):c.4035C>T (p.Pro1345=) rs757412652 0.00001
NM_001329943.3(KIAA0586):c.4060A>G (p.Ile1354Val) rs1446993944 0.00001
NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr) rs1188851321 0.00001
NM_001329943.3(KIAA0586):c.4094C>T (p.Pro1365Leu) rs752429234 0.00001
NM_001329943.3(KIAA0586):c.411-1389C>T rs1490162703 0.00001
NM_001329943.3(KIAA0586):c.4137A>G (p.Lys1379=) rs372138430 0.00001
NM_001329943.3(KIAA0586):c.4147C>T (p.Arg1383Trp) rs1015444951 0.00001
NM_001329943.3(KIAA0586):c.4185T>C (p.Asp1395=) rs2044165528 0.00001
NM_001329943.3(KIAA0586):c.419G>A (p.Ser140Asn) rs754191741 0.00001
NM_001329943.3(KIAA0586):c.420C>T (p.Ser140=) rs900262881 0.00001
NM_001329943.3(KIAA0586):c.4324-1G>A rs753649082 0.00001
NM_001329943.3(KIAA0586):c.4324-2A>G rs763815640 0.00001
NM_001329943.3(KIAA0586):c.4495+3777del rs1237632090 0.00001
NM_001329943.3(KIAA0586):c.4495+3778T>C rs1022389517 0.00001
NM_001329943.3(KIAA0586):c.4495+3785A>T rs942756021 0.00001
NM_001329943.3(KIAA0586):c.4495+3802G>A rs541632685 0.00001
NM_001329943.3(KIAA0586):c.4496-3808A>C rs181384924 0.00001
NM_001329943.3(KIAA0586):c.4512A>G (p.Pro1504=) rs1476732636 0.00001
NM_001329943.3(KIAA0586):c.4572C>T (p.Leu1524=) rs371910625 0.00001
NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu) rs767347007 0.00001
NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile) rs540188519 0.00001
NM_001329943.3(KIAA0586):c.52G>A (p.Val18Met) rs1260723288 0.00001
NM_001329943.3(KIAA0586):c.556G>C (p.Ala186Pro) rs758886732 0.00001
NM_001329943.3(KIAA0586):c.592A>C (p.Ser198Arg) rs375374719 0.00001
NM_001329943.3(KIAA0586):c.668G>A (p.Arg223His) rs779062959 0.00001
NM_001329943.3(KIAA0586):c.70G>T (p.Val24Leu) rs780198735 0.00001
NM_001329943.3(KIAA0586):c.726T>C (p.Asp242=) rs1019648840 0.00001
NM_001329943.3(KIAA0586):c.808-14C>G rs765153409 0.00001
NM_001329943.3(KIAA0586):c.848A>G (p.Gln283Arg) rs772425621 0.00001
NM_001329943.3(KIAA0586):c.868T>G (p.Ser290Ala) rs1372486181 0.00001
NM_001329943.3(KIAA0586):c.881A>G (p.Glu294Gly) rs765495285 0.00001
NM_001329943.3(KIAA0586):c.888T>C (p.Tyr296=) rs541197914 0.00001
NM_001329943.3(KIAA0586):c.891C>T (p.Ser297=) rs1424135868 0.00001
NM_001329943.3(KIAA0586):c.892G>A (p.Val298Ile) rs751564059 0.00001
NM_001329943.3(KIAA0586):c.956A>G (p.Lys319Arg) rs1297972335 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.1558C>T (p.Arg520Ter) rs781252161 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.2162C>T (p.Pro721Leu) rs533830027 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.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001378615.1(CC2D2A):c.3015-9A>C rs1010285962 0.00001
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala) rs863225173 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.3452T>C (p.Val1151Ala) rs863225170 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.3594+5G>A rs863225181 0.00001
NM_001378615.1(CC2D2A):c.3601G>A (p.Gly1201Arg) rs1392733763 0.00001
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648 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.4741A>G (p.Thr1581Ala) rs863225174 0.00001
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr) rs780190318 0.00001
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp) rs372873919 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_001382391.1(CSPP1):c.-102G>A rs1805078439 0.00001
NM_001382391.1(CSPP1):c.-112G>C rs753468929 0.00001
NM_001382391.1(CSPP1):c.-116C>T rs371071297 0.00001
NM_001382391.1(CSPP1):c.-140C>G rs770993498 0.00001
NM_001382391.1(CSPP1):c.-146T>A rs749476046 0.00001
NM_001382391.1(CSPP1):c.-75C>T rs918221746 0.00001
NM_001382391.1(CSPP1):c.-76C>T rs1261027822 0.00001
NM_001382391.1(CSPP1):c.-82G>C rs778940690 0.00001
NM_001382391.1(CSPP1):c.100-3C>T rs919525492 0.00001
NM_001382391.1(CSPP1):c.1009G>T (p.Ala337Ser) rs1395802185 0.00001
NM_001382391.1(CSPP1):c.1023-9T>C rs1161675884 0.00001
NM_001382391.1(CSPP1):c.1065C>T (p.Thr355=) rs780635377 0.00001
NM_001382391.1(CSPP1):c.1115T>C (p.Ile372Thr) rs1445583372 0.00001
NM_001382391.1(CSPP1):c.1123A>C (p.Arg375=) rs1215710015 0.00001
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter) rs775285273 0.00001
NM_001382391.1(CSPP1):c.1188-10T>C rs1458775172 0.00001
NM_001382391.1(CSPP1):c.1194A>T (p.Lys398Asn) rs1037020711 0.00001
NM_001382391.1(CSPP1):c.1241A>T (p.Lys414Ile) rs1231591915 0.00001
NM_001382391.1(CSPP1):c.1315G>A (p.Ala439Thr) rs1460794902 0.00001
NM_001382391.1(CSPP1):c.1398A>G (p.Pro466=) rs182555422 0.00001
NM_001382391.1(CSPP1):c.1400C>A (p.Ser467Tyr) rs974893054 0.00001
NM_001382391.1(CSPP1):c.1416A>G (p.Pro472=) rs747901737 0.00001
NM_001382391.1(CSPP1):c.1433C>G (p.Pro478Arg) rs1438276592 0.00001
NM_001382391.1(CSPP1):c.1497-2A>C rs766633448 0.00001
NM_001382391.1(CSPP1):c.1502C>T (p.Ala501Val) rs755596091 0.00001
NM_001382391.1(CSPP1):c.1521C>T (p.Pro507=) rs199923715 0.00001
NM_001382391.1(CSPP1):c.1524A>G (p.Leu508=) rs756441690 0.00001
NM_001382391.1(CSPP1):c.1540A>G (p.Thr514Ala) rs1818321960 0.00001
NM_001382391.1(CSPP1):c.1550G>A (p.Arg517Gln) rs778430027 0.00001
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser) rs1818326433 0.00001
NM_001382391.1(CSPP1):c.1568C>A (p.Ala523Glu) rs375900507 0.00001
NM_001382391.1(CSPP1):c.1591A>G (p.Asn531Asp) rs768395830 0.00001
NM_001382391.1(CSPP1):c.1619A>G (p.Tyr540Cys) rs1818416279 0.00001
NM_001382391.1(CSPP1):c.1623T>C (p.Gly541=) rs1441641063 0.00001
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala) rs754153035 0.00001
NM_001382391.1(CSPP1):c.1697+1G>T rs863225193 0.00001
NM_001382391.1(CSPP1):c.1782T>C (p.Pro594=) rs759106091 0.00001
NM_001382391.1(CSPP1):c.1827+10C>A rs757078413 0.00001
NM_001382391.1(CSPP1):c.1827+3A>G rs1449112719 0.00001
NM_001382391.1(CSPP1):c.1828-4C>A rs1064797347 0.00001
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp) rs527674289 0.00001
NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter) rs1225726214 0.00001
NM_001382391.1(CSPP1):c.1843G>C (p.Glu615Gln) rs1822579573 0.00001
NM_001382391.1(CSPP1):c.1861C>T (p.Arg621Cys) rs760288983 0.00001
NM_001382391.1(CSPP1):c.1871A>G (p.Lys624Arg) rs1452211221 0.00001
NM_001382391.1(CSPP1):c.1875A>G (p.Glu625=) rs1320611050 0.00001
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly) rs1212455505 0.00001
NM_001382391.1(CSPP1):c.1928A>G (p.Lys643Arg) rs1822600510 0.00001
NM_001382391.1(CSPP1):c.1959A>G (p.Ala653=) rs1334965098 0.00001
NM_001382391.1(CSPP1):c.199+13A>G rs756283251 0.00001
NM_001382391.1(CSPP1):c.1997G>A (p.Arg666Lys) rs1420249213 0.00001
NM_001382391.1(CSPP1):c.200-15T>C rs1025519086 0.00001
NM_001382391.1(CSPP1):c.2006T>C (p.Ile669Thr) rs968055651 0.00001
NM_001382391.1(CSPP1):c.2018A>G (p.His673Arg) rs769707621 0.00001
NM_001382391.1(CSPP1):c.2080G>T (p.Ala694Ser) rs751023936 0.00001
NM_001382391.1(CSPP1):c.2128+17T>G rs1465446692 0.00001
NM_001382391.1(CSPP1):c.2129G>C (p.Gly710Ala) rs780885390 0.00001
NM_001382391.1(CSPP1):c.2141C>T (p.Thr714Ile) rs577752590 0.00001
NM_001382391.1(CSPP1):c.2162G>A (p.Arg721Gln) rs201974031 0.00001
NM_001382391.1(CSPP1):c.2168A>G (p.Asn723Ser) rs1826216893 0.00001
NM_001382391.1(CSPP1):c.2234G>A (p.Arg745His) rs769971911 0.00001
NM_001382391.1(CSPP1):c.2242-19A>T rs771867162 0.00001
NM_001382391.1(CSPP1):c.2284C>A (p.Leu762Met) rs760013419 0.00001
NM_001382391.1(CSPP1):c.2332G>A (p.Ala778Thr) rs1421808533 0.00001
NM_001382391.1(CSPP1):c.2391+7C>G rs1827123471 0.00001
NM_001382391.1(CSPP1):c.2435G>A (p.Arg812Lys) rs1251717089 0.00001
NM_001382391.1(CSPP1):c.2436A>G (p.Arg812=) rs775968442 0.00001
NM_001382391.1(CSPP1):c.2510G>A (p.Arg837Lys) rs765955382 0.00001
NM_001382391.1(CSPP1):c.2538+10A>G rs141325681 0.00001
NM_001382391.1(CSPP1):c.2538+11G>A rs758376225 0.00001
NM_001382391.1(CSPP1):c.253C>T (p.His85Tyr) rs769473253 0.00001
NM_001382391.1(CSPP1):c.2619C>T (p.Asp873=) rs780284845 0.00001
NM_001382391.1(CSPP1):c.262A>G (p.Lys88Glu) rs1332974255 0.00001
NM_001382391.1(CSPP1):c.2643+7A>G rs190584438 0.00001
NM_001382391.1(CSPP1):c.2654T>C (p.Met885Thr) rs894040195 0.00001
NM_001382391.1(CSPP1):c.2658C>G (p.Ser886=) rs763958350 0.00001
NM_001382391.1(CSPP1):c.2676G>A (p.Pro892=) rs778144204 0.00001
NM_001382391.1(CSPP1):c.2677G>A (p.Val893Ile) rs1828816022 0.00001
NM_001382391.1(CSPP1):c.2732T>A (p.Met911Lys) rs746260241 0.00001
NM_001382391.1(CSPP1):c.2754A>G (p.Lys918=) rs1324539056 0.00001
NM_001382391.1(CSPP1):c.275G>C (p.Arg92Pro) rs764280843 0.00001
NM_001382391.1(CSPP1):c.2773A>G (p.Arg925Gly) rs772949501 0.00001
NM_001382391.1(CSPP1):c.2776C>T (p.Arg926Cys) rs373151997 0.00001
NM_001382391.1(CSPP1):c.2789G>A (p.Arg930Gln) rs377493480 0.00001
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val) rs370720351 0.00001
NM_001382391.1(CSPP1):c.2807G>A (p.Ser936Asn) rs1381482450 0.00001
NM_001382391.1(CSPP1):c.2813A>G (p.Asp938Gly) rs1282726257 0.00001
NM_001382391.1(CSPP1):c.2829-3T>C rs1830657246 0.00001
NM_001382391.1(CSPP1):c.2829-4A>G rs752142812 0.00001
NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter) rs1380418532 0.00001
NM_001382391.1(CSPP1):c.285C>T (p.Tyr95=) rs567550598 0.00001
NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr) rs1162661826 0.00001
NM_001382391.1(CSPP1):c.2866G>T (p.Ala956Ser) rs745710780 0.00001
NM_001382391.1(CSPP1):c.2886T>A (p.Ala962=) rs761971816 0.00001
NM_001382391.1(CSPP1):c.2910G>C (p.Lys970Asn) rs766939685 0.00001
NM_001382391.1(CSPP1):c.2968+1G>T rs587777142 0.00001
NM_001382391.1(CSPP1):c.297T>C (p.Leu99=) rs1810339109 0.00001
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter) rs760275528 0.00001
NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn) rs1384362094 0.00001
NM_001382391.1(CSPP1):c.303+3A>T rs920556156 0.00001
NM_001382391.1(CSPP1):c.303+7A>G rs1810343333 0.00001
NM_001382391.1(CSPP1):c.3109+20G>A rs373555747 0.00001
NM_001382391.1(CSPP1):c.3109+5G>C rs772586492 0.00001
NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val) rs370238037 0.00001
NM_001382391.1(CSPP1):c.3156+16C>A rs773054384 0.00001
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His) rs766496985 0.00001
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser) rs1835967725 0.00001
NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile) rs1368965128 0.00001
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=) rs769247285 0.00001
NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile) rs778723931 0.00001
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys) rs758825560 0.00001
NM_001382391.1(CSPP1):c.32A>C (p.Glu11Ala) rs778293599 0.00001
NM_001382391.1(CSPP1):c.3340C>T (p.Arg1114Cys) rs537833447 0.00001
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr) rs1017040124 0.00001
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser) rs1158377033 0.00001
NM_001382391.1(CSPP1):c.3382T>C (p.Ser1128Pro) rs766061975 0.00001
NM_001382391.1(CSPP1):c.3479G>C (p.Ser1160Thr) rs1170601676 0.00001
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His) rs752140903 0.00001
NM_001382391.1(CSPP1):c.3560G>A (p.Arg1187His) rs748165041 0.00001
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His) rs1241589485 0.00001
NM_001382391.1(CSPP1):c.3619C>T (p.Gln1207Ter) rs936435444 0.00001
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser) rs377160929 0.00001
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=) rs1040715506 0.00001
NM_001382391.1(CSPP1):c.414A>G (p.Glu138=) rs760017432 0.00001
NM_001382391.1(CSPP1):c.500A>G (p.Asn167Ser) rs1395114211 0.00001
NM_001382391.1(CSPP1):c.502A>C (p.Lys168Gln) rs772650396 0.00001
NM_001382391.1(CSPP1):c.509C>A (p.Pro170His) rs762548335 0.00001
NM_001382391.1(CSPP1):c.606A>G (p.Ala202=) rs757510042 0.00001
NM_001382391.1(CSPP1):c.650A>G (p.Tyr217Cys) rs747784602 0.00001
NM_001382391.1(CSPP1):c.659T>C (p.Leu220Pro) rs1339065259 0.00001
NM_001382391.1(CSPP1):c.666T>C (p.Asp222=) rs374780184 0.00001
NM_001382391.1(CSPP1):c.697A>G (p.Lys233Glu) rs752084244 0.00001
NM_001382391.1(CSPP1):c.72A>C (p.Glu24Asp) rs748917623 0.00001
NM_001382391.1(CSPP1):c.738T>C (p.His246=) rs773951141 0.00001
NM_001382391.1(CSPP1):c.867G>A (p.Arg289=) rs1446123007 0.00001
NM_001382391.1(CSPP1):c.875A>G (p.Tyr292Cys) rs1369528194 0.00001
NM_001382391.1(CSPP1):c.908T>C (p.Val303Ala) rs764343140 0.00001
NM_001382391.1(CSPP1):c.929A>G (p.His310Arg) rs374738280 0.00001
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter) rs774703929 0.00001
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln) rs1173092063 0.00001
NM_001382391.1(CSPP1):c.989C>T (p.Ser330Leu) rs754454865 0.00001
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter) rs1554117456 0.00001
NM_003383.5(VLDLR):c.*267A>G rs1036108012 0.00001
NM_003383.5(VLDLR):c.*51C>T rs752035004 0.00001
NM_003383.5(VLDLR):c.-48G>C rs1054805961 0.00001
NM_003383.5(VLDLR):c.1066+14T>C rs762128149 0.00001
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln) rs137946976 0.00001
NM_003383.5(VLDLR):c.1546G>A (p.Ala516Thr) rs369197633 0.00001
NM_003383.5(VLDLR):c.1666C>T (p.Arg556Ter) rs141396971 0.00001
NM_003383.5(VLDLR):c.2104+6G>A rs773398189 0.00001
NM_003383.5(VLDLR):c.2251A>T (p.Ser751Cys) rs1818277717 0.00001
NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala) rs753848585 0.00001
NM_003383.5(VLDLR):c.541G>A (p.Asp181Asn) rs144469558 0.00001
NM_003383.5(VLDLR):c.83-1G>A rs770269674 0.00001
NM_004056.6(CA8):c.710G>A (p.Arg237Gln) rs387906598 0.00001
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys) rs1333091798 0.00001
NM_015160.3(PMPCA):c.1408+1G>A rs753895120 0.00001
NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg) rs869025293 0.00001
NM_015160.3(PMPCA):c.485C>T (p.Thr162Met) rs192764146 0.00001
NM_015160.3(PMPCA):c.766G>A (p.Val256Met) rs746549806 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.1010C>T (p.Ser337Phe) rs747867189 0.00001
NM_015272.5(RPGRIP1L):c.1029+8C>T rs367844249 0.00001
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln) rs758759988 0.00001
NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn) rs949199630 0.00001
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu) rs770032567 0.00001
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn) rs777834264 0.00001
NM_015272.5(RPGRIP1L):c.1351-11A>G rs750076702 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp) rs377512064 0.00001
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly) rs371841392 0.00001
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe) rs147331527 0.00001
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn) rs145516192 0.00001
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys) rs755258407 0.00001
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys) rs781713688 0.00001
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu) rs775017742 0.00001
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) rs745413543 0.00001
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=) rs375766769 0.00001
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro) rs776297522 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.196C>T (p.Gln66Ter) rs751444506 0.00001
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys) rs775007896 0.00001
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter) rs201081228 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.230+1G>A rs786204135 0.00001
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His) rs1338012833 0.00001
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136 0.00001
NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys) rs1196015536 0.00001
NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg) rs1966513057 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg) rs752772082 0.00001
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg) rs766357656 0.00001
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys) rs768030202 0.00001
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His) rs1480250597 0.00001
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile) rs780672507 0.00001
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg) rs181022346 0.00001
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) rs1456208953 0.00001
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177 0.00001
NM_015272.5(RPGRIP1L):c.3220+17A>C rs1204073957 0.00001
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr) rs539084201 0.00001
NM_015272.5(RPGRIP1L):c.3432+6T>G rs543688285 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.3541C>A (p.Leu1181Ile) rs905516252 0.00001
NM_015272.5(RPGRIP1L):c.3616+9G>T rs934455196 0.00001
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=) rs1239622461 0.00001
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile) rs781401167 0.00001
NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys) rs1963624413 0.00001
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr) rs764832127 0.00001
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg) rs776310931 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp) rs769611947 0.00001
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val) rs1167981125 0.00001
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=) rs1266143274 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His) rs1970020650 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NM_015272.5(RPGRIP1L):c.776+1G>A rs771226563 0.00001
NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln) rs916661298 0.00001
NM_015272.5(RPGRIP1L):c.882+12A>G rs1264347960 0.00001
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter) rs793888508 0.00001
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln) rs778260923 0.00001
NM_016464.5(TMEM138):c.-17G>A rs757369483 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_016464.5(TMEM138):c.129-18T>A rs1181378192 0.00001
NM_016464.5(TMEM138):c.129-20A>T rs1477684645 0.00001
NM_016464.5(TMEM138):c.129-8G>T rs1438561210 0.00001
NM_016464.5(TMEM138):c.203C>A (p.Ala68Asp) rs766349558 0.00001
NM_016464.5(TMEM138):c.248T>C (p.Ile83Thr) rs767361822 0.00001
NM_016464.5(TMEM138):c.276C>T (p.Ser92=) rs756828257 0.00001
NM_016464.5(TMEM138):c.300+17G>A rs1858147311 0.00001
NM_016464.5(TMEM138):c.301-9C>A rs764884921 0.00001
NM_016464.5(TMEM138):c.308G>A (p.Arg103His) rs781769843 0.00001
NM_016464.5(TMEM138):c.392G>C (p.Cys131Ser) rs934639615 0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196 0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022 0.00001
NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser) rs775913576 0.00001
NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter) rs146264153 0.00001
NM_016529.6(ATP8A2):c.1058-2A>G rs1304832284 0.00001
NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile) rs1398724919 0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) rs755133567 0.00001
NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln) rs566960742 0.00001
NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr) rs1171835963 0.00001
NM_016529.6(ATP8A2):c.3272+1G>A rs779337270 0.00001
NM_016529.6(ATP8A2):c.77-2A>G rs373909734 0.00001
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala) rs745809472 0.00001
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser) rs587779734 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile) rs760184188 0.00001
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys) rs1003579700 0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs) rs780161503 0.00001
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys) rs753620277 0.00001
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs) rs386834051 0.00001
NM_017777.4(MKS1):c.728C>T (p.Thr243Met) rs749668169 0.00001
NM_017777.4(MKS1):c.791C>T (p.Thr264Met) rs561482424 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_018294.6(CWF19L1):c.1063A>G (p.Lys355Glu) rs1176487325 0.00001
NM_018718.3(CEP41):c.*1205G>T rs1554415397 0.00001
NM_018718.3(CEP41):c.*1766T>C rs1211217706 0.00001
NM_018718.3(CEP41):c.*2159C>T rs886061995 0.00001
NM_018718.3(CEP41):c.*2709G>A rs1342689782 0.00001
NM_018718.3(CEP41):c.*4505G>T rs1554413676 0.00001
NM_018718.3(CEP41):c.*4994T>C rs527933839 0.00001
NM_018718.3(CEP41):c.*55G>A rs782471506 0.00001
NM_018718.3(CEP41):c.*832A>C rs1554415585 0.00001
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln) rs782089459 0.00001
NM_018718.3(CEP41):c.1053C>T (p.Gly351=) rs782191360 0.00001
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser) rs782590600 0.00001
NM_018718.3(CEP41):c.1061C>T (p.Ala354Val) rs781832103 0.00001
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro) rs587780311 0.00001
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly) rs201504407 0.00001
NM_018718.3(CEP41):c.145+3A>G rs782008140 0.00001
NM_018718.3(CEP41):c.145+5G>A rs1413177096 0.00001
NM_018718.3(CEP41):c.146-18T>C rs202065857 0.00001
NM_018718.3(CEP41):c.157A>G (p.Lys53Glu) rs1554419921 0.00001
NM_018718.3(CEP41):c.164A>T (p.Asp55Val) rs782776244 0.00001
NM_018718.3(CEP41):c.165T>C (p.Asp55=) rs782085186 0.00001
NM_018718.3(CEP41):c.186A>G (p.Lys62=) rs1797202624 0.00001
NM_018718.3(CEP41):c.200C>T (p.Ala67Val) rs782426353 0.00001
NM_018718.3(CEP41):c.208-17A>G rs1374383852 0.00001
NM_018718.3(CEP41):c.278-1G>A rs1796956272 0.00001
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly) rs1554417870 0.00001
NM_018718.3(CEP41):c.308C>T (p.Ala103Val) rs369687508 0.00001
NM_018718.3(CEP41):c.384C>T (p.Asn128=) rs374535389 0.00001
NM_018718.3(CEP41):c.423-8A>G rs1796893817 0.00001
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu) rs111688621 0.00001
NM_018718.3(CEP41):c.565A>G (p.Ile189Val) rs782591147 0.00001
NM_018718.3(CEP41):c.637G>A (p.Glu213Lys) rs782466306 0.00001
NM_018718.3(CEP41):c.643-12T>C rs782521409 0.00001
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161 0.00001
NM_018718.3(CEP41):c.696C>T (p.Ala232=) rs1796819118 0.00001
NM_018718.3(CEP41):c.705G>A (p.Ala235=) rs149052906 0.00001
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys) rs1554416667 0.00001
NM_018718.3(CEP41):c.741C>T (p.Leu247=) rs781822221 0.00001
NM_018718.3(CEP41):c.753C>T (p.Ser251=) rs200612684 0.00001
NM_018718.3(CEP41):c.826C>G (p.Gln276Glu) rs782815662 0.00001
NM_018718.3(CEP41):c.850C>T (p.Arg284Trp) rs782729874 0.00001
NM_018718.3(CEP41):c.929T>A (p.Ile310Lys) rs782435349 0.00001
NM_018718.3(CEP41):c.942_943del (p.Glu315fs) rs1584867379 0.00001
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu) rs782474335 0.00001
NM_018718.3(CEP41):c.973+11T>C rs781847285 0.00001
NM_018718.3(CEP41):c.973+15C>T rs979158941 0.00001
NM_018718.3(CEP41):c.974-8C>T rs367692258 0.00001
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004 0.00001
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp) rs756789619 0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568 0.00001
NM_020366.4(RPGRIP1):c.3238+3A>G rs1389509266 0.00001
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803 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.102+13T>C rs773325354 0.00001
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser) rs891165640 0.00001
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) rs781183605 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn) rs750163383 0.00001
NM_025114.4(CEP290):c.1623+2C>A rs2039218006 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1712-9T>C rs1412442444 0.00001
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu) rs770829686 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.1977G>A (p.Lys659=) rs1313927656 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) rs769216455 0.00001
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) rs1378036383 0.00001
NM_025114.4(CEP290):c.2343T>C (p.Asn781=) rs748034744 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151 0.00001
NM_025114.4(CEP290):c.2448T>C (p.Arg816=) rs371851348 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_025114.4(CEP290):c.274A>G (p.Met92Val) rs951351175 0.00001
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile) rs1000757966 0.00001
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser) rs967541984 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.2974A>G (p.Asn992Asp) rs1265448566 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3185del (p.Leu1062fs) rs863225189 0.00001
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser) rs1276779845 0.00001
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu) rs760934388 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956 0.00001
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=) rs747972826 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.3731A>G (p.Glu1244Gly) rs1342978055 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712 0.00001
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu) rs765521933 0.00001
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022 0.00001
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr) rs1460182061 0.00001
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337 0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00001
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val) rs2036709987 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4302+5G>A rs1013125589 0.00001
NM_025114.4(CEP290):c.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.441+14T>G rs765642954 0.00001
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672 0.00001
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val) rs751408783 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val) rs760059883 0.00001
NM_025114.4(CEP290):c.4812+6A>T rs769525877 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.521A>T (p.Glu174Val) rs774484028 0.00001
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg) rs773591434 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala) rs1354836663 0.00001
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247 0.00001
NM_025114.4(CEP290):c.6012-2A>G rs555755221 0.00001
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=) rs766355219 0.00001
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly) rs756608200 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=) rs1175295227 0.00001
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp) rs886043119 0.00001
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile) rs753687613 0.00001
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=) rs374183249 0.00001
NM_025114.4(CEP290):c.6270+19A>G rs1181927624 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr) rs769886105 0.00001
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser) rs777841957 0.00001
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=) rs1409872235 0.00001
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=) rs755447230 0.00001
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr) rs1212611161 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.7130-16A>G rs1430895394 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 0.00001
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg) rs1487082103 0.00001
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) rs1896432430 0.00001
NM_032856.5(WDR73):c.816T>C (p.Pro272=) rs374742538 0.00001
NM_033064.5(ATCAY):c.*1181G>A rs530991790 0.00001
NM_033064.5(ATCAY):c.*2356C>T rs886054425 0.00001
NM_033064.5(ATCAY):c.*3124C>T rs2039079791 0.00001
NM_033064.5(ATCAY):c.*612C>T rs2039056211 0.00001
NM_033064.5(ATCAY):c.-176C>T rs911941440 0.00001
NM_033064.5(ATCAY):c.-41-13G>A rs529428286 0.00001
NM_033064.5(ATCAY):c.1060C>T (p.Pro354Ser) rs756401076 0.00001
NM_033064.5(ATCAY):c.379G>A (p.Ala127Thr) rs756591751 0.00001
NM_033064.5(ATCAY):c.402C>T (p.Ser134=) rs564040857 0.00001
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter) rs1007848349 0.00001
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg) rs1455416289 0.00001
NM_153704.6(TMEM67):c.1353del (p.Glu452fs) rs749435317 0.00001
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=) rs747752903 0.00001
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile) rs774701716 0.00001
NM_153704.6(TMEM67):c.1675-13T>A rs144538020 0.00001
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115 0.00001
NM_153704.6(TMEM67):c.2100+3A>G rs376417882 0.00001
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr) rs947256938 0.00001
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val) rs762351497 0.00001
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val) rs199874479 0.00001
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=) rs201791586 0.00001
NM_153704.6(TMEM67):c.2440-11T>C rs767482660 0.00001
NM_153704.6(TMEM67):c.2662-4T>C rs374804519 0.00001
NM_153704.6(TMEM67):c.2765-4A>C rs1242768505 0.00001
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe) rs375047471 0.00001
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro) rs767886819 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu) rs371462532 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=) rs966581270 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_153704.6(TMEM67):c.882T>C (p.Leu294=) rs200110207 0.00001
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe) rs1376394849 0.00001
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met) rs779950527 0.00001
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly) rs750006477 0.00001
2q13 deletion
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
NC_000002.11:g.(?_110880912)_(110886837_110889255)del
NC_000002.11:g.(?_202334676)_(202523241_?)dup
NC_000002.11:g.(?_202466462)_(202508123_?)del
NC_000002.11:g.(?_202488978)_(202508123_?)dup
NC_000002.11:g.(?_202496774)_(202498154_?)del
NC_000002.11:g.(?_202501451)_(202633608_?)del
NC_000002.11:g.(?_202508062)_(202508123_?)del
NC_000002.12:g.(?_201618900)_(201647825_?)del
NC_000002.12:g.110069919_110205214del
NC_000003.11:g.(132438675_132440806)_132441126del
NC_000003.11:g.93714775_(93722753_93754174)del
NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup
NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
NC_000008.10:g.(?_67786376)_(68165857_?)dup
NC_000008.10:g.(?_67976634)_(68071392_?)dup
NC_000008.10:g.(?_67976634)_(68658364_?)del
NC_000008.10:g.(?_67998222)_(67998365_?)del
NC_000008.10:g.(?_68015252)_(68015390_?)dup
NC_000008.10:g.(?_68018120)_(68071392_?)dup
NC_000008.10:g.(?_68024187)_(68044335_?)dup
NC_000008.10:g.(?_68024187)_(68107828_?)dup
NC_000008.10:g.(?_68024187)_(68107848_?)dup
NC_000008.10:g.(?_68024197)_(68107828_?)dup
NC_000008.10:g.(?_68044166)_(68044335_?)del
NC_000008.10:g.(?_68070662)_(68071392_?)del
NC_000008.10:g.(?_68105679)_(68105857_?)del
NC_000008.11:g.(?_67010715)_(67064496_?)dup
NC_000008.11:g.(?_67111972)_(67218138_?)dup
NC_000008.11:g.(?_67193464)_(67193602_?)del
NC_000008.11:g.67195383TGA[3] rs772729206
NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del
NC_000011.9:g.(?_61133497)_(61133708_?)del
NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
NC_000012.11:g.(124189236_124191272)_(124192951_?)del
NC_000012.11:g.(?_124155659)_(124184358_124189078)del
NC_000014.8:g.(?_58711639)_(59014694_?)del
NC_000014.8:g.(?_58894347)_(58894375_?)del
NC_000014.8:g.(?_58894347)_(58899195_?)dup
NC_000014.8:g.(?_58894347)_(59014694_?)dup
NC_000014.8:g.(?_58896061)_(58899195_?)dup
NC_000014.8:g.(?_58910652)_(58910913_?)del
NC_000014.8:g.(?_58910652)_(58917484_?)dup
NC_000014.8:g.(?_58926541)_(58927898_?)del
NC_000014.8:g.(?_58938897)_(58941535_?)del
NC_000014.8:g.(?_58949211)_(58949450_?)dup
NC_000014.8:g.(?_58951496)_(58953792_?)del
NC_000014.8:g.(?_58975253)_(58975447_?)del
NC_000014.8:g.(?_59010581)_(59014694_?)dup
NC_000014.9:g.(?_58443934)_(58450766_?)del
NC_000014.9:g.(?_58448320)_(58450766_?)dup
NC_000016.10:g.(?_75539974)_(75545515_?)del
NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
NC_000016.9:g.(?_75490611)_(75576599_?)del
NC_000016.9:g.(?_75512539)_(75576601_?)del
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75574092_?)del
NC_000016.9:g.(?_75573892)_(75575373_?)del
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NC_000016.9:g.(?_75573892)_(75576601_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)del
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NC_000016.9:g.(?_75573892)_(75579872_?)dup
NC_000016.9:g.(?_75573892)_(75690509_?)del
NC_000016.9:g.(?_75575228)_(75579413_?)dup
NC_000016.9:g.(?_75579704)_(75590169_?)dup
NC_000016.9:g.(?_75589682)_(75590169_?)del
NC_000016.9:g.(?_75589682)_(75690509_?)dup
NG_012741.1:g.(?_5001)_(37693_?)del
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_001044385.3(TMEM237):c.*1303G>A rs886055444
NM_001044385.3(TMEM237):c.*1436G>T rs528180812
NM_001044385.3(TMEM237):c.*1606T>C rs1000633418
NM_001044385.3(TMEM237):c.*1879G>A rs1301264448
NM_001044385.3(TMEM237):c.*1890G>A rs191383267
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.*2307A>G rs1957712077
NM_001044385.3(TMEM237):c.*2448C>A rs1234909902
NM_001044385.3(TMEM237):c.*2582G>T rs886055439
NM_001044385.3(TMEM237):c.*2626T>C rs1957709069
NM_001044385.3(TMEM237):c.*2652A>G rs1957708713
NM_001044385.3(TMEM237):c.*2670C>T rs1559581980
NM_001044385.3(TMEM237):c.*2682G>C rs886055438
NM_001044385.3(TMEM237):c.*283A>C rs886055446
NM_001044385.3(TMEM237):c.*3013A>G rs886055437
NM_001044385.3(TMEM237):c.*303C>T rs1957734276
NM_001044385.3(TMEM237):c.*3350A>T rs561312621
NM_001044385.3(TMEM237):c.*4020T>A rs886055435
NM_001044385.3(TMEM237):c.*62A>G rs1957736360
NM_001044385.3(TMEM237):c.*663G>C rs940503609
NM_001044385.3(TMEM237):c.*781G>A rs1957729006
NM_001044385.3(TMEM237):c.*895C>G rs1957727656
NM_001044385.3(TMEM237):c.*940A>C rs1957727275
NM_001044385.3(TMEM237):c.-25G>A rs568671275
NM_001044385.3(TMEM237):c.-67T>G rs886055450
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)
NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)
NM_001044385.3(TMEM237):c.1038-13T>C
NM_001044385.3(TMEM237):c.1038-16G>A
NM_001044385.3(TMEM237):c.1038-18G>C rs1462537932
NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys)
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met)
NM_001044385.3(TMEM237):c.1078G>C (p.Val360Leu) rs1957756642
NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=)
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu) rs138509553
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala) rs1957756375
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)
NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro)
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr)
NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser)
NM_001044385.3(TMEM237):c.1154G>A (p.Ser385Asn) rs1362249907
NM_001044385.3(TMEM237):c.1159+15A>C
NM_001044385.3(TMEM237):c.1159+17del rs766664373
NM_001044385.3(TMEM237):c.1159+17dup
NM_001044385.3(TMEM237):c.1159+3A>G rs754717992
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs) rs763176756
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser) rs1957737864
NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1]) rs765428296
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs) rs761770686
NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)
NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe)
NM_001044385.3(TMEM237):c.128dup (p.Asn43fs)
NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile)
NM_001044385.3(TMEM237):c.133C>T (p.Pro45Ser) rs1376540567
NM_001044385.3(TMEM237):c.136+19T>C rs2105903480
NM_001044385.3(TMEM237):c.136+20T>C
NM_001044385.3(TMEM237):c.137-14_137-13del
NM_001044385.3(TMEM237):c.137-17A>G
NM_001044385.3(TMEM237):c.137-19C>G rs369430368
NM_001044385.3(TMEM237):c.137-2A>G
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu) rs562984785
NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val)
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe) rs1687306098
NM_001044385.3(TMEM237):c.165G>T (p.Gln55His) rs768568104
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr) rs999613520
NM_001044385.3(TMEM237):c.174T>G (p.Gly58=) rs2105902384
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter) rs902145121
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=) rs2105902371
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=) rs2105902357
NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala)
NM_001044385.3(TMEM237):c.205A>T (p.Thr69Ser) rs376226585
NM_001044385.3(TMEM237):c.214C>G (p.Leu72Val) rs1369476710
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr) rs367728637
NM_001044385.3(TMEM237):c.23G>A (p.Arg8Gln) rs778373105
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=) rs377090903
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln) rs2105906100
NM_001044385.3(TMEM237):c.274+14C>G
NM_001044385.3(TMEM237):c.274+18G>C
NM_001044385.3(TMEM237):c.274+9A>G
NM_001044385.3(TMEM237):c.275-2A>G rs1574582671
NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn)
NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala)
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile) rs1324625933
NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn)
NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu)
NM_001044385.3(TMEM237):c.310A>G (p.Ser104Gly)
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn) rs1687222402
NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter) rs2105900861
NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val)
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys) rs1319201699
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter) rs565778005
NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln)
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys) rs1553660992
NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr)
NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)
NM_001044385.3(TMEM237):c.355G>A (p.Ala119Thr) rs2105900828
NM_001044385.3(TMEM237):c.378A>G (p.Lys126=)
NM_001044385.3(TMEM237):c.395+16T>C
NM_001044385.3(TMEM237):c.396-15A>G
NM_001044385.3(TMEM237):c.396-2A>G
NM_001044385.3(TMEM237):c.396-4A>G
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=) rs1253365223
NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs)
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=) rs2105900286
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.42+16C>G rs2105906044
NM_001044385.3(TMEM237):c.42+18C>T
NM_001044385.3(TMEM237):c.42+6C>T
NM_001044385.3(TMEM237):c.42+7G>T
NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr) rs2105900282
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys)
NM_001044385.3(TMEM237):c.44G>A (p.Arg15His)
NM_001044385.3(TMEM237):c.470_473dup (p.Thr159fs) rs1957813141
NM_001044385.3(TMEM237):c.478G>A (p.Val160Met) rs2105900253
NM_001044385.3(TMEM237):c.505C>T (p.Pro169Ser) rs772074875
NM_001044385.3(TMEM237):c.510T>G (p.Thr170=)
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=) rs2105900225
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=) rs1433478535
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=) rs1957812548
NM_001044385.3(TMEM237):c.553+2dup rs1957812399
NM_001044385.3(TMEM237):c.553+3dup rs1957812369
NM_001044385.3(TMEM237):c.554-2_554-1insT rs1085307098
NM_001044385.3(TMEM237):c.554-3dup rs778807445
NM_001044385.3(TMEM237):c.554-5C>T
NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)
NM_001044385.3(TMEM237):c.586A>T (p.Ile196Leu) rs1202199961
NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg)
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs) rs756970007
NM_001044385.3(TMEM237):c.606_609dup (p.Val204fs) rs2105899220
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile) rs767769973
NM_001044385.3(TMEM237):c.62del (p.Pro21fs) rs1574587553
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter) rs2105899200
NM_001044385.3(TMEM237):c.655C>T (p.Leu219Phe) rs2105899190
NM_001044385.3(TMEM237):c.65C>T (p.Pro22Leu) rs769861092
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=) rs2105899171
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly) rs2105899169
NM_001044385.3(TMEM237):c.677+18A>G
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.678-13C>T rs1957789089
NM_001044385.3(TMEM237):c.678-15C>A
NM_001044385.3(TMEM237):c.678-20_678-17del rs754336127
NM_001044385.3(TMEM237):c.678-6A>G
NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr)
NM_001044385.3(TMEM237):c.685G>C (p.Gly229Arg) rs1163877651
NM_001044385.3(TMEM237):c.694dup (p.Ser232fs)
NM_001044385.3(TMEM237):c.69G>T (p.Val23=) rs2105904439
NM_001044385.3(TMEM237):c.709G>T (p.Ala237Ser) rs763431945
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
NM_001044385.3(TMEM237):c.74+12_74+14del
NM_001044385.3(TMEM237):c.747T>A (p.Val249=) rs1957787811
NM_001044385.3(TMEM237):c.75-19G>A
NM_001044385.3(TMEM237):c.75-5G>A
NM_001044385.3(TMEM237):c.767C>G (p.Ser256Cys) rs2105898977
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.3(TMEM237):c.775T>C (p.Ser259Pro) rs992818026
NM_001044385.3(TMEM237):c.79+20A>T rs745908076
NM_001044385.3(TMEM237):c.79+5G>C
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001044385.3(TMEM237):c.80-20C>T rs753443048
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=) rs2105898943
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)
NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala)
NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile) rs1015591586
NM_001044385.3(TMEM237):c.854T>C (p.Ile285Thr) rs1343901400
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=) rs2105898925
NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp)
NM_001044385.3(TMEM237):c.869+11T>C
NM_001044385.3(TMEM237):c.869+15T>C
NM_001044385.3(TMEM237):c.869+16C>T rs980158363
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001044385.3(TMEM237):c.869+1del rs1311551510
NM_001044385.3(TMEM237):c.869+8C>G
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001044385.3(TMEM237):c.870-4C>G
NM_001044385.3(TMEM237):c.870-8T>G rs2105898458
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=) rs2105898446
NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro)
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter) rs768528861
NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe)
NM_001044385.3(TMEM237):c.920A>G (p.Asp307Gly) rs2105898418
NM_001044385.3(TMEM237):c.926C>G (p.Thr309Arg) rs1380123430
NM_001044385.3(TMEM237):c.934G>C (p.Ala312Pro) rs2105898403
NM_001044385.3(TMEM237):c.943+15dup
NM_001044385.3(TMEM237):c.944T>G (p.Leu315Trp) rs1043186259
NM_001044385.3(TMEM237):c.964C>G (p.Leu322Val) rs2105898068
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg) rs1957768968
NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)
NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val)
NM_001044385.3(TMEM237):c.986C>G (p.Thr329Arg) rs1057148787
NM_001077418.2(TMEM231):c.-53A>G rs1176007249
NM_001077418.2(TMEM231):c.-55C>T rs2151711350
NM_001077418.2(TMEM231):c.-59G>A
NM_001077418.2(TMEM231):c.-61T>G
NM_001077418.3(TMEM231):c.-16C>A
NM_001077418.3(TMEM231):c.-17G>T rs768513169
NM_001077418.3(TMEM231):c.-22G>C
NM_001077418.3(TMEM231):c.-25C>T
NM_001077418.3(TMEM231):c.-30C>A rs2080810566
NM_001077418.3(TMEM231):c.-37G>A
NM_001077418.3(TMEM231):c.-38T>C rs758946916
NM_001077418.3(TMEM231):c.-41A>C rs765256905
NM_001077418.3(TMEM231):c.-8C>T rs780752063
NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)
NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)
NM_001077418.3(TMEM231):c.139+12C>T rs937269706
NM_001077418.3(TMEM231):c.139+14G>A
NM_001077418.3(TMEM231):c.139+1del rs2151711054
NM_001077418.3(TMEM231):c.139+28G>A rs370005084
NM_001077418.3(TMEM231):c.139+39G>C rs1448302846
NM_001077418.3(TMEM231):c.139+39_139+40del
NM_001077418.3(TMEM231):c.139+44G>T
NM_001077418.3(TMEM231):c.139+48G>T rs1234390023
NM_001077418.3(TMEM231):c.139+9G>A
NM_001077418.3(TMEM231):c.140-10T>C rs2151710900
NM_001077418.3(TMEM231):c.140-29C>T
NM_001077418.3(TMEM231):c.140-2A>G rs1216670609
NM_001077418.3(TMEM231):c.140-30A>C rs2080806593
NM_001077418.3(TMEM231):c.140-33C>G rs901311435
NM_001077418.3(TMEM231):c.140-39G>A
NM_001077418.3(TMEM231):c.140-3C>G rs776673877
NM_001077418.3(TMEM231):c.140-47C>G rs369232571
NM_001077418.3(TMEM231):c.140-5C>T
NM_001077418.3(TMEM231):c.140-8dup
NM_001077418.3(TMEM231):c.140-9_140-8del
NM_001077418.3(TMEM231):c.144T>G (p.Phe48Leu) rs2151710882
NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)
NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)
NM_001077418.3(TMEM231):c.15G>C (p.Glu5Asp)
NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys) rs772102451
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=) rs781250253
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
NM_001077418.3(TMEM231):c.205C>T (p.Leu69Phe)
NM_001077418.3(TMEM231):c.212C>A (p.Ala71Asp) rs1350319069
NM_001077418.3(TMEM231):c.214C>G (p.Leu72Val) rs2151710764
NM_001077418.3(TMEM231):c.217C>G (p.Leu73Val) rs2080804915
NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn) rs753709447
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=) rs2151710642
NM_001077418.3(TMEM231):c.258C>G (p.Phe86Leu)
NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)
NM_001077418.3(TMEM231):c.272G>C (p.Arg91Pro)
NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)
NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile) rs2151710524
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
NM_001077418.3(TMEM231):c.309+12C>T
NM_001077418.3(TMEM231):c.309G>A (p.Ser103=) rs2151710504
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=) rs2151710504
NM_001077418.3(TMEM231):c.310-15G>C rs2151703201
NM_001077418.3(TMEM231):c.310-18C>T
NM_001077418.3(TMEM231):c.310-4C>G rs2080685365
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly) rs1415195367
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
NM_001077418.3(TMEM231):c.354dup (p.His119fs) rs2151703115
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro) rs1348700844
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys) rs775329522
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg) rs1202833405
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
NM_001077418.3(TMEM231):c.396T>C (p.Val132=) rs1187444555
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=) rs2080683492
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
NM_001077418.3(TMEM231):c.438+13G>A rs780849828
NM_001077418.3(TMEM231):c.438+13G>T rs780849828
NM_001077418.3(TMEM231):c.438+1G>C rs1415483600
NM_001077418.3(TMEM231):c.438+3G>A rs1183368030
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
NM_001077418.3(TMEM231):c.439-11A>G
NM_001077418.3(TMEM231):c.439-20G>T
NM_001077418.3(TMEM231):c.439-33_538del
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
NM_001077418.3(TMEM231):c.479A>G (p.Gln160Arg) rs2080678228
NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)
NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)
NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) rs1597041448
NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu) rs549400559
NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr) rs903354438
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=) rs1335128278
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter) rs2151702587
NM_001077418.3(TMEM231):c.538C>T (p.Gln180Ter)
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)
NM_001077418.3(TMEM231):c.557G>T (p.Cys186Phe) rs1280264089
NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)
NM_001077418.3(TMEM231):c.570T>A (p.Asp190Glu) rs2151702535
NM_001077418.3(TMEM231):c.582+16_582+17delinsGA
NM_001077418.3(TMEM231):c.582+17T>G
NM_001077418.3(TMEM231):c.582+8C>T
NM_001077418.3(TMEM231):c.583-1_583delinsAG rs2151700036
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC
NM_001077418.3(TMEM231):c.583-3C>G
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)
NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg) rs2080639506
NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)
NM_001077418.3(TMEM231):c.664+1G>A
NM_001077418.3(TMEM231):c.664G>C (p.Val222Leu) rs397514753
NM_001077418.3(TMEM231):c.665-11T>C rs886039807
NM_001077418.3(TMEM231):c.665-13G>C
NM_001077418.3(TMEM231):c.665-19G>T rs200581224
NM_001077418.3(TMEM231):c.665-19_665-13del
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
NM_001077418.3(TMEM231):c.68C>T (p.Ala23Val) rs1567441268
NM_001077418.3(TMEM231):c.691C>A (p.Pro231Thr)
NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr) rs1344067825
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
NM_001077418.3(TMEM231):c.715G>A (p.Ala239Thr) rs139236786
NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)
NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu) rs1277858041
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val) rs951457866
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) rs1295551040
NM_001077418.3(TMEM231):c.770+20G>A
NM_001077418.3(TMEM231):c.770+3A>G rs2080625882
NM_001077418.3(TMEM231):c.770+6C>G
NM_001077418.3(TMEM231):c.771-17T>G
NM_001077418.3(TMEM231):c.771-4A>G
NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His) rs758048238
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu) rs2151697774
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys) rs797044954
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=) rs754352443
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro) rs397514754
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)
NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=) rs2080604225
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)
NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)
NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr) rs2151697600
NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)
NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)
NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)
NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=) rs1362332031
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001082538.3(TCTN1):c.1284del (p.Thr429fs) rs1566003392
NM_001082538.3(TCTN1):c.1494+2T>C
NM_001128178.3(NPHP1):c.*199A>G rs1679131109
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)
NM_001128178.3(NPHP1):c.1083+1G>A
NM_001128178.3(NPHP1):c.1084-2A>C
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)
NM_001128178.3(NPHP1):c.1270-12C>T rs772635725
NM_001128178.3(NPHP1):c.1270-2A>G
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln) rs886054753
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)
NM_001128178.3(NPHP1):c.1352+2T>G
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs) rs2104483923
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) rs1212780955
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)
NM_001128178.3(NPHP1):c.141_143+40del
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)
NM_001128178.3(NPHP1):c.144-1G>A
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) rs373953762
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1530-4del rs757295724
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=) rs1679799639
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs) rs1017750255
NM_001128178.3(NPHP1):c.1643-1G>C
NM_001128178.3(NPHP1):c.1643-2A>G
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr) rs372893275
NM_001128178.3(NPHP1):c.1717-1dup
NM_001128178.3(NPHP1):c.1717-5T>G rs1679303713
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp) rs538690900
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp) rs141686332
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr) rs201077898
NM_001128178.3(NPHP1):c.1943C>T (p.Ala648Val)
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=) rs977347524
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) rs1408606648
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly) rs747176517
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu) rs774386187
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.522+5_522+8del rs1411070570
NM_001128178.3(NPHP1):c.555del (p.Lys185fs) rs766524637
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_001128178.3(NPHP1):c.625-2A>G
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp) rs947765689
NM_001128178.3(NPHP1):c.69+1G>T
NM_001128178.3(NPHP1):c.69+1del
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser) rs201661196
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)
NM_001128178.3(NPHP1):c.738_739del (p.His247fs)
NM_001128178.3(NPHP1):c.771+124C>T
NM_001128178.3(NPHP1):c.771+136C>A rs142670785
NM_001128178.3(NPHP1):c.771+148G>T rs753796140
NM_001128178.3(NPHP1):c.771+178C>T rs767903893
NM_001128178.3(NPHP1):c.771+58C>T
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg) rs886054754
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)
NM_001128178.3(NPHP1):c.859+8G>C rs765856771
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1568A>T rs969919726
NM_001134831.2(AHI1):c.*1A>C
NM_001134831.2(AHI1):c.*216G>A rs1781565852
NM_001134831.2(AHI1):c.*246T>C rs1781561968
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.*484G>A rs1045439496
NM_001134831.2(AHI1):c.*981C>T rs376956056
NM_001134831.2(AHI1):c.-332C>G rs944668049
NM_001134831.2(AHI1):c.-53A>G rs1461027288
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter) rs2128081591
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.1094dup (p.Met365fs) rs2128081478
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly) rs863225133
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly) rs1789162289
NM_001134831.2(AHI1):c.1270del (p.Ile424fs) rs1788846426
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe) rs761203456
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe) rs372919026
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1326del (p.Val443fs) rs1788834778
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1330_1331insGGATA (p.Ile444fs) rs1788833484
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer) rs2128071123
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001134831.2(AHI1):c.1432T>C (p.Phe478Leu)
NM_001134831.2(AHI1):c.1516C>A (p.Arg506=) rs371637724
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1614del (p.Val539fs) rs863225141
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr) rs1787553528
NM_001134831.2(AHI1):c.1622A>G (p.Asp541Gly) rs1787553194
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC rs863225148
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys) rs971565169
NM_001134831.2(AHI1):c.1671del (p.Gly558fs) rs2128056526
NM_001134831.2(AHI1):c.1761del (p.Lys586_Trp587insTer) rs1787347907
NM_001134831.2(AHI1):c.1780-3T>C rs1786509189
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr)
NM_001134831.2(AHI1):c.1889del (p.Ser630fs) rs1786487832
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs) rs863225132
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507
NM_001134831.2(AHI1):c.1912+15T>G rs1786478454
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter) rs764412921
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=) rs1785751637
NM_001134831.2(AHI1):c.1983del (p.Trp662fs) rs1459452503
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val) rs371198770
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile) rs772989270
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn) rs863225145
NM_001134831.2(AHI1):c.2036+1G>T rs776093293
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001134831.2(AHI1):c.2037-77G>A rs737561
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) rs863225136
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly) rs863225134
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs) rs863225140
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala) rs752392677
NM_001134831.2(AHI1):c.2266+1G>A
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu) rs863225139
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile) rs1049221524
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter) rs863225146
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys) rs863225146
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) rs387906270
NM_001134831.2(AHI1):c.2374-12del rs766929085
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys) rs958113326
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=) rs1583193331
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala) rs1784406093
NM_001134831.2(AHI1):c.2492+5G>A rs2128012406
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) rs529407899
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser) rs2128009440
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser) rs199736888
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs) rs587783014
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala) rs376705634
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2739TCT[1] (p.Leu915del) rs1583179812
NM_001134831.2(AHI1):c.2763T>C (p.His921=) rs886061109
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys) rs755780260
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs) rs1463748841
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
NM_001134831.2(AHI1):c.3109+14T>A rs1778988078
NM_001134831.2(AHI1):c.3109+6788A>C
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg) rs750115460
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs) rs387906269
NM_001134831.2(AHI1):c.3426+2T>C
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.406T>C (p.Leu136=) rs1299907778
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu) rs192524061
NM_001134831.2(AHI1):c.430del (p.Glu144fs) rs2128098409
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys) rs766052712
NM_001134831.2(AHI1):c.459A>C (p.Thr153=) rs531024131
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.917del (p.Lys306fs) rs1181159671
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001134831.2(AHI1):c.971A>G (p.His324Arg) rs1789192683
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu) rs150798889
NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala) rs1915232687
NM_001163809.2(WDR81):c.1735G>A (p.Gly579Arg)
NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu) rs1915315281
NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg) rs748793270
NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys)
NM_001163809.2(WDR81):c.2410C>T (p.Arg804Ter)
NM_001163809.2(WDR81):c.2980C>T (p.Arg994Trp)
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter) rs770279237
NM_001163809.2(WDR81):c.3771T>G (p.Tyr1257Ter) rs1484029774
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu) rs199995527
NM_001163809.2(WDR81):c.4085T>C (p.Met1362Thr)
NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu) rs374149596
NM_001163809.2(WDR81):c.4879G>A (p.Val1627Met)
NM_001163809.2(WDR81):c.5018G>A (p.Arg1673His)
NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro) rs150784268
NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=) rs1045794
NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu) rs730882206
NM_001173976.2(TCTN1):c.1011-2_1012del
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.*6A>G rs541341560
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) rs1554972400
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) rs900061092
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.137-7T>C rs1554972545
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) rs1554972556
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
NM_001173990.3(TMEM216):c.228del (p.Phe76fs) rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
NM_001173990.3(TMEM216):c.229+10G>A rs1590642512
NM_001173990.3(TMEM216):c.229+1G>A rs2135191306
NM_001173990.3(TMEM216):c.229+1G>C
NM_001173990.3(TMEM216):c.230-10T>C rs1858829914
NM_001173990.3(TMEM216):c.230-2A>G rs1211592806
NM_001173990.3(TMEM216):c.230-9dup rs1554972934
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.295T>C (p.Ser99Pro) rs1238443381
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr) rs1554972406
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) rs1554972958
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) rs147267631
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs) rs1554972964
NM_001173990.3(TMEM216):c.34+18_34+21del rs940443692
NM_001173990.3(TMEM216):c.34+1G>A
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG rs1554973024
NM_001173990.3(TMEM216):c.432-10delinsAA rs1554973021
NM_001173990.3(TMEM216):c.432-10delinsAC rs1554973021
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173990.3(TMEM216):c.67del (p.Leu23fs) rs1565088283
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr) rs1554972409
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
NM_001173990.3:c.432-11_432-10insA
NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)
NM_001174150.2(ARL13B):c.59+1G>A
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His) rs764109067
NM_001174150.2(ARL13B):c.801del (p.Asn267fs)
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
NM_001244189.1(KIAA0586):c.2602_2612del11
NM_001244189.2(KIAA0586):c.9+12G>C rs2140365548
NM_001244189.2(KIAA0586):c.9+16C>T
NM_001244189.2(KIAA0586):c.9+4A>C rs1029046238
NM_001244189.2(KIAA0586):c.9+5G>C
NM_001329943.3(KIAA0586):c.*20A>G
NM_001329943.3(KIAA0586):c.*3G>A rs748083468
NM_001329943.3(KIAA0586):c.-1T>C
NM_001329943.3(KIAA0586):c.-20C>T
NM_001329943.3(KIAA0586):c.-28G>A
NM_001329943.3(KIAA0586):c.-29A>C rs752709426
NM_001329943.3(KIAA0586):c.-2A>G
NM_001329943.3(KIAA0586):c.-31T>G
NM_001329943.3(KIAA0586):c.-33C>G rs1246692312
NM_001329943.3(KIAA0586):c.-36G>A rs781284563
NM_001329943.3(KIAA0586):c.-37C>G
NM_001329943.3(KIAA0586):c.-47A>G
NM_001329943.3(KIAA0586):c.-4C>G
NM_001329943.3(KIAA0586):c.100G>A (p.Val34Ile) rs186659284
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) rs186659284
NM_001329943.3(KIAA0586):c.1026A>G (p.Ala342=)
NM_001329943.3(KIAA0586):c.1030C>T (p.Arg344Cys)
NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs) rs2140706563
NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)
NM_001329943.3(KIAA0586):c.1088T>C (p.Leu363Pro)
NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs) rs1232900431
NM_001329943.3(KIAA0586):c.1096G>A (p.Glu366Lys)
NM_001329943.3(KIAA0586):c.1099A>C (p.Lys367Gln)
NM_001329943.3(KIAA0586):c.1125C>T (p.His375=)
NM_001329943.3(KIAA0586):c.1129+16A>C rs1263079347
NM_001329943.3(KIAA0586):c.1129+1G>A rs2140707466
NM_001329943.3(KIAA0586):c.1129+20G>C
NM_001329943.3(KIAA0586):c.1129+6A>C
NM_001329943.3(KIAA0586):c.1130-12C>T
NM_001329943.3(KIAA0586):c.1130-16A>G
NM_001329943.3(KIAA0586):c.1130-18A>G
NM_001329943.3(KIAA0586):c.1130-20C>G
NM_001329943.3(KIAA0586):c.1130-2A>G
NM_001329943.3(KIAA0586):c.1130-7A>G rs1656520928
NM_001329943.3(KIAA0586):c.1130G>A (p.Gly377Glu)
NM_001329943.3(KIAA0586):c.1133A>G (p.Asn378Ser)
NM_001329943.3(KIAA0586):c.1133A>T (p.Asn378Ile)
NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=)
NM_001329943.3(KIAA0586):c.1152A>C (p.Gln384His) rs963677243
NM_001329943.3(KIAA0586):c.1163A>G (p.Asn388Ser)
NM_001329943.3(KIAA0586):c.1172C>G (p.Ser391Cys) rs2039563292
NM_001329943.3(KIAA0586):c.117G>C (p.Glu39Asp) rs190089844
NM_001329943.3(KIAA0586):c.1182A>C (p.Arg394Ser)
NM_001329943.3(KIAA0586):c.1187G>A (p.Ser396Asn) rs1349839476
NM_001329943.3(KIAA0586):c.1189G>A (p.Glu397Lys)
NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs)
NM_001329943.3(KIAA0586):c.1196C>T (p.Ser399Leu) rs2140763302
NM_001329943.3(KIAA0586):c.1200C>T (p.Asn400=)
NM_001329943.3(KIAA0586):c.1203C>T (p.Thr401=) rs2039565444
NM_001329943.3(KIAA0586):c.1225A>G (p.Ile409Val)
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys) rs548318176
NM_001329943.3(KIAA0586):c.1253+12A>T
NM_001329943.3(KIAA0586):c.1253+17G>A
NM_001329943.3(KIAA0586):c.1253+19A>C
NM_001329943.3(KIAA0586):c.1253+1G>A
NM_001329943.3(KIAA0586):c.1254-12A>G
NM_001329943.3(KIAA0586):c.1254-19A>T rs2140825179
NM_001329943.3(KIAA0586):c.125G>A (p.Cys42Tyr)
NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter) rs1301378192
NM_001329943.3(KIAA0586):c.1273C>G (p.Leu425Val)
NM_001329943.3(KIAA0586):c.127G>A (p.Val43Ile)
NM_001329943.3(KIAA0586):c.1284T>C (p.Thr428=)
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)
NM_001329943.3(KIAA0586):c.1320T>C (p.His440=)
NM_001329943.3(KIAA0586):c.1329C>T (p.Gly443=)
NM_001329943.3(KIAA0586):c.1332A>G (p.Gln444=)
NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)
NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)
NM_001329943.3(KIAA0586):c.135G>C (p.Pro45=)
NM_001329943.3(KIAA0586):c.1362+10G>T
NM_001329943.3(KIAA0586):c.1362+17C>T
NM_001329943.3(KIAA0586):c.1362+2T>C rs901508284
NM_001329943.3(KIAA0586):c.1363-11T>C rs2140842996
NM_001329943.3(KIAA0586):c.1369G>C (p.Glu457Gln) rs2140843404
NM_001329943.3(KIAA0586):c.1373C>A (p.Ser458Tyr)
NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=)
NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=)
NM_001329943.3(KIAA0586):c.1395A>G (p.Pro465=) rs2140843741
NM_001329943.3(KIAA0586):c.139T>C (p.Leu47=)
NM_001329943.3(KIAA0586):c.1405C>A (p.Gln469Lys) rs1323358756
NM_001329943.3(KIAA0586):c.1409A>G (p.Asn470Ser) rs1245858530
NM_001329943.3(KIAA0586):c.1424A>T (p.Gln475Leu)
NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe) rs761150154
NM_001329943.3(KIAA0586):c.1443A>G (p.Arg481=)
NM_001329943.3(KIAA0586):c.1445C>T (p.Ser482Phe) rs369211190
NM_001329943.3(KIAA0586):c.1447G>A (p.Val483Ile)
NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=)
NM_001329943.3(KIAA0586):c.1459G>T (p.Ala487Ser)
NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs) rs2140844892
NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)
NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg) rs2040004897
NM_001329943.3(KIAA0586):c.1487A>G (p.Asn496Ser)
NM_001329943.3(KIAA0586):c.1501C>T (p.Leu501Phe)
NM_001329943.3(KIAA0586):c.1503T>C (p.Leu501=)
NM_001329943.3(KIAA0586):c.1506A>G (p.Glu502=)
NM_001329943.3(KIAA0586):c.1508A>G (p.Glu503Gly)
NM_001329943.3(KIAA0586):c.1512C>A (p.Asn504Lys)
NM_001329943.3(KIAA0586):c.1513C>G (p.Leu505Val)
NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=)
NM_001329943.3(KIAA0586):c.1538A>G (p.Asp513Gly)
NM_001329943.3(KIAA0586):c.1569T>C (p.Ala523=)
NM_001329943.3(KIAA0586):c.1573T>C (p.Ser525Pro)
NM_001329943.3(KIAA0586):c.1575T>C (p.Ser525=)
NM_001329943.3(KIAA0586):c.1576A>T (p.Thr526Ser)
NM_001329943.3(KIAA0586):c.1578C>T (p.Thr526=)
NM_001329943.3(KIAA0586):c.1583+17A>G
NM_001329943.3(KIAA0586):c.1583+7G>A rs1333490071
NM_001329943.3(KIAA0586):c.1584-14T>C rs2140853060
NM_001329943.3(KIAA0586):c.1584-18C>A
NM_001329943.3(KIAA0586):c.1584-5del
NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=) rs776054856
NM_001329943.3(KIAA0586):c.1593A>G (p.Ser531=)
NM_001329943.3(KIAA0586):c.1631T>G (p.Ile544Ser) rs2140854100
NM_001329943.3(KIAA0586):c.1638T>C (p.Thr546=)
NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs)
NM_001329943.3(KIAA0586):c.1651A>G (p.Ile551Val)
NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)
NM_001329943.3(KIAA0586):c.1656+12A>G
NM_001329943.3(KIAA0586):c.1656+17A>T
NM_001329943.3(KIAA0586):c.1656+19C>A
NM_001329943.3(KIAA0586):c.1657-13T>C
NM_001329943.3(KIAA0586):c.1667C>T (p.Ser556Leu)
NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs) rs2140873534
NM_001329943.3(KIAA0586):c.167G>A (p.Gly56Glu)
NM_001329943.3(KIAA0586):c.1680T>C (p.Tyr560=)
NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter) rs2040187420
NM_001329943.3(KIAA0586):c.1716C>A (p.Thr572=)
NM_001329943.3(KIAA0586):c.171G>T (p.Thr57=)
NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs)
NM_001329943.3(KIAA0586):c.1745T>G (p.Ile582Ser)
NM_001329943.3(KIAA0586):c.1775A>G (p.Asn592Ser) rs2140874422
NM_001329943.3(KIAA0586):c.1782T>A (p.Ser594=)
NM_001329943.3(KIAA0586):c.1799A>C (p.His600Pro)
NM_001329943.3(KIAA0586):c.1799A>G (p.His600Arg) rs780461594
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) rs1566827747
NM_001329943.3(KIAA0586):c.1810C>G (p.Gln604Glu)
NM_001329943.3(KIAA0586):c.1821G>A (p.Glu607=)
NM_001329943.3(KIAA0586):c.1824T>C (p.His608=)
NM_001329943.3(KIAA0586):c.1836A>C (p.Leu612=) rs567927914
NM_001329943.3(KIAA0586):c.1836A>G (p.Leu612=) rs567927914
NM_001329943.3(KIAA0586):c.1852C>G (p.Pro618Ala)
NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly)
NM_001329943.3(KIAA0586):c.1870A>G (p.Lys624Glu)
NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs) rs2140875258
NM_001329943.3(KIAA0586):c.1875G>A (p.Glu625=)
NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=)
NM_001329943.3(KIAA0586):c.1884+15T>C rs1313237040
NM_001329943.3(KIAA0586):c.1884+1G>T
NM_001329943.3(KIAA0586):c.1885-12T>G
NM_001329943.3(KIAA0586):c.1885-12_1885-11del
NM_001329943.3(KIAA0586):c.1885-15A>T
NM_001329943.3(KIAA0586):c.1885-5C>T rs752142962
NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu) rs940229482
NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs)
NM_001329943.3(KIAA0586):c.1903A>G (p.Thr635Ala)
NM_001329943.3(KIAA0586):c.1916A>G (p.Asp639Gly) rs1210187670
NM_001329943.3(KIAA0586):c.1917T>C (p.Asp639=) rs376649351
NM_001329943.3(KIAA0586):c.1920A>G (p.Glu640=) rs1477846398
NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs)
NM_001329943.3(KIAA0586):c.1932A>T (p.Leu644Phe) rs2140886222
NM_001329943.3(KIAA0586):c.1935del (p.Val646fs) rs2140886312
NM_001329943.3(KIAA0586):c.193T>C (p.Ser65Pro) rs1473572852
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter) rs797045119
NM_001329943.3(KIAA0586):c.1964A>G (p.His655Arg) rs769913250
NM_001329943.3(KIAA0586):c.1974T>C (p.Thr658=)
NM_001329943.3(KIAA0586):c.1989A>G (p.Pro663=)
NM_001329943.3(KIAA0586):c.199+13A>C rs769176872
NM_001329943.3(KIAA0586):c.199+13A>G
NM_001329943.3(KIAA0586):c.199+15G>A
NM_001329943.3(KIAA0586):c.199+23del rs537837939
NM_001329943.3(KIAA0586):c.1999T>C (p.Phe667Leu)
NM_001329943.3(KIAA0586):c.199G>A (p.Gly67Ser) rs2140375856
NM_001329943.3(KIAA0586):c.200-2A>G
NM_001329943.3(KIAA0586):c.200-5G>A
NM_001329943.3(KIAA0586):c.2002A>T (p.Asn668Tyr)
NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys)
NM_001329943.3(KIAA0586):c.2016T>C (p.Pro672=)
NM_001329943.3(KIAA0586):c.2017A>G (p.Lys673Glu)
NM_001329943.3(KIAA0586):c.2022C>T (p.Ser674=) rs2140887489
NM_001329943.3(KIAA0586):c.2024G>A (p.Arg675Lys)
NM_001329943.3(KIAA0586):c.2032A>C (p.Arg678=) rs190081177
NM_001329943.3(KIAA0586):c.2034A>G (p.Arg678=)
NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=)
NM_001329943.3(KIAA0586):c.2041G>C (p.Val681Leu)
NM_001329943.3(KIAA0586):c.2044A>T (p.Ile682Leu) rs751924115
NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs) rs2140887842
NM_001329943.3(KIAA0586):c.2059+20A>G
NM_001329943.3(KIAA0586):c.2059G>T (p.Gly687Cys)
NM_001329943.3(KIAA0586):c.2060-16T>C
NM_001329943.3(KIAA0586):c.2060-19C>T
NM_001329943.3(KIAA0586):c.2060G>T (p.Gly687Val)
NM_001329943.3(KIAA0586):c.2061C>G (p.Gly687=)
NM_001329943.3(KIAA0586):c.2062A>G (p.Thr688Ala) rs2140939104
NM_001329943.3(KIAA0586):c.2063C>A (p.Thr688Asn) rs1868384082
NM_001329943.3(KIAA0586):c.2105C>T (p.Thr702Ile)
NM_001329943.3(KIAA0586):c.2131A>G (p.Met711Val)
NM_001329943.3(KIAA0586):c.213_270+11dup
NM_001329943.3(KIAA0586):c.2141C>G (p.Ser714Cys) rs2140939862
NM_001329943.3(KIAA0586):c.2153T>C (p.Leu718Ser)
NM_001329943.3(KIAA0586):c.2158C>T (p.His720Tyr) rs757373300
NM_001329943.3(KIAA0586):c.215C>A (p.Thr72Asn)
NM_001329943.3(KIAA0586):c.2164G>A (p.Asp722Asn)
NM_001329943.3(KIAA0586):c.2164G>T (p.Asp722Tyr) rs750671663
NM_001329943.3(KIAA0586):c.2175T>C (p.Tyr725=)
NM_001329943.3(KIAA0586):c.2185C>T (p.Pro729Ser) rs2140940326
NM_001329943.3(KIAA0586):c.2203A>G (p.Thr735Ala) rs1489902309
NM_001329943.3(KIAA0586):c.2207T>A (p.Phe736Tyr)
NM_001329943.3(KIAA0586):c.2213G>T (p.Gly738Val)
NM_001329943.3(KIAA0586):c.2239A>G (p.Met747Val)
NM_001329943.3(KIAA0586):c.2254+17T>C rs2140941167
NM_001329943.3(KIAA0586):c.2254+1G>T
NM_001329943.3(KIAA0586):c.2254+20G>T
NM_001329943.3(KIAA0586):c.2255-3T>C rs2140956887
NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)
NM_001329943.3(KIAA0586):c.2260A>T (p.Thr754Ser)
NM_001329943.3(KIAA0586):c.2262C>T (p.Thr754=)
NM_001329943.3(KIAA0586):c.2270A>G (p.Asn757Ser)
NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=)
NM_001329943.3(KIAA0586):c.2304C>T (p.Val768=)
NM_001329943.3(KIAA0586):c.2320G>A (p.Val774Ile)
NM_001329943.3(KIAA0586):c.2324C>A (p.Thr775Asn) rs2140957750
NM_001329943.3(KIAA0586):c.2348C>T (p.Ser783Leu)
NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)
NM_001329943.3(KIAA0586):c.2362G>A (p.Glu788Lys)
NM_001329943.3(KIAA0586):c.2380C>T (p.Pro794Ser)
NM_001329943.3(KIAA0586):c.2388A>G (p.Ile796Met)
NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs)
NM_001329943.3(KIAA0586):c.2411A>G (p.Glu804Gly) rs1302610013
NM_001329943.3(KIAA0586):c.2411A>T (p.Glu804Val) rs1302610013
NM_001329943.3(KIAA0586):c.2413A>G (p.Lys805Glu)
NM_001329943.3(KIAA0586):c.241C>G (p.Leu81Val) rs2140391234
NM_001329943.3(KIAA0586):c.2426C>T (p.Pro809Leu)
NM_001329943.3(KIAA0586):c.2435C>A (p.Thr812Asn)
NM_001329943.3(KIAA0586):c.2437G>A (p.Val813Met)
NM_001329943.3(KIAA0586):c.2442+11del rs753806115
NM_001329943.3(KIAA0586):c.2442+15A>C
NM_001329943.3(KIAA0586):c.2442+16T>C
NM_001329943.3(KIAA0586):c.2442+9G>A rs1490718693
NM_001329943.3(KIAA0586):c.2443-14G>A
NM_001329943.3(KIAA0586):c.2443-18T>C
NM_001329943.3(KIAA0586):c.2443-19A>G
NM_001329943.3(KIAA0586):c.2443-4T>C rs911579183
NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=)
NM_001329943.3(KIAA0586):c.2449C>G (p.Pro817Ala)
NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=)
NM_001329943.3(KIAA0586):c.2461A>G (p.Ile821Val)
NM_001329943.3(KIAA0586):c.2462T>C (p.Ile821Thr) rs1320727649
NM_001329943.3(KIAA0586):c.2465A>G (p.Asp822Gly)
NM_001329943.3(KIAA0586):c.2469C>A (p.Ser823Arg)
NM_001329943.3(KIAA0586):c.2469C>T (p.Ser823=)
NM_001329943.3(KIAA0586):c.2469_2483del (p.Ile824_Ser828del) rs750244824
NM_001329943.3(KIAA0586):c.2476A>C (p.Asn826His) rs763982126
NM_001329943.3(KIAA0586):c.2476A>G (p.Asn826Asp)
NM_001329943.3(KIAA0586):c.2480G>A (p.Ser827Asn)
NM_001329943.3(KIAA0586):c.2481T>C (p.Ser827=)
NM_001329943.3(KIAA0586):c.2486C>A (p.Ala829Asp)
NM_001329943.3(KIAA0586):c.2486C>T (p.Ala829Val) rs200219991
NM_001329943.3(KIAA0586):c.24G>A (p.Leu8=) rs761492303
NM_001329943.3(KIAA0586):c.2505G>A (p.Leu835=) rs751246498
NM_001329943.3(KIAA0586):c.2521G>A (p.Ala841Thr) rs2140987094
NM_001329943.3(KIAA0586):c.2525C>T (p.Ser842Phe) rs749680733
NM_001329943.3(KIAA0586):c.2535T>A (p.Pro845=)
NM_001329943.3(KIAA0586):c.253C>T (p.Pro85Ser)
NM_001329943.3(KIAA0586):c.2553+20C>A
NM_001329943.3(KIAA0586):c.2553+6T>C
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=) rs1024217852
NM_001329943.3(KIAA0586):c.2553G>T (p.Lys851Asn)
NM_001329943.3(KIAA0586):c.2554-14A>G
NM_001329943.3(KIAA0586):c.2554-4T>G
NM_001329943.3(KIAA0586):c.2554-9C>A
NM_001329943.3(KIAA0586):c.2556T>G (p.Thr852=)
NM_001329943.3(KIAA0586):c.2557C>T (p.Pro853Ser)
NM_001329943.3(KIAA0586):c.257T>G (p.Met86Arg) rs74055693
NM_001329943.3(KIAA0586):c.2598A>G (p.Pro866=)
NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter) rs2140372917
NM_001329943.3(KIAA0586):c.2617A>G (p.Ile873Val) rs2041278053
NM_001329943.3(KIAA0586):c.261G>T (p.Val87=)
NM_001329943.3(KIAA0586):c.2622C>G (p.Ile874Met)
NM_001329943.3(KIAA0586):c.2624A>T (p.Asp875Val) rs868621645
NM_001329943.3(KIAA0586):c.2630T>C (p.Ile877Thr)
NM_001329943.3(KIAA0586):c.2634+10C>G
NM_001329943.3(KIAA0586):c.2634+12T>C rs766964981
NM_001329943.3(KIAA0586):c.2634+1G>T
NM_001329943.3(KIAA0586):c.2634+5C>G
NM_001329943.3(KIAA0586):c.264A>G (p.Ser88=) rs2037178345
NM_001329943.3(KIAA0586):c.2650G>A (p.Asp884Asn)
NM_001329943.3(KIAA0586):c.2693G>A (p.Ser898Asn) rs760087214
NM_001329943.3(KIAA0586):c.269G>C (p.Ser90Thr) rs780403471
NM_001329943.3(KIAA0586):c.270+3A>G rs2140391500
NM_001329943.3(KIAA0586):c.270+7A>C
NM_001329943.3(KIAA0586):c.2708C>A (p.Ser903Tyr)
NM_001329943.3(KIAA0586):c.271-1G>A
NM_001329943.3(KIAA0586):c.2717A>G (p.Tyr906Cys)
NM_001329943.3(KIAA0586):c.2723G>C (p.Gly908Ala) rs753434086
NM_001329943.3(KIAA0586):c.2729C>T (p.Pro910Leu)
NM_001329943.3(KIAA0586):c.272A>G (p.Asp91Gly)
NM_001329943.3(KIAA0586):c.2749A>G (p.Thr917Ala)
NM_001329943.3(KIAA0586):c.2756A>G (p.Gln919Arg) rs2141025129
NM_001329943.3(KIAA0586):c.2758C>G (p.Pro920Ala)
NM_001329943.3(KIAA0586):c.2786T>C (p.Ile929Thr)
NM_001329943.3(KIAA0586):c.2787T>C (p.Ile929=)
NM_001329943.3(KIAA0586):c.2788_2802del (p.Glu930_Thr934del) rs2141025393
NM_001329943.3(KIAA0586):c.2796A>G (p.Lys932=)
NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs)
NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs)
NM_001329943.3(KIAA0586):c.2822A>G (p.Gln941Arg)
NM_001329943.3(KIAA0586):c.2825+15T>G
NM_001329943.3(KIAA0586):c.2825+1G>A rs2141025675
NM_001329943.3(KIAA0586):c.2826-10A>G
NM_001329943.3(KIAA0586):c.2826-11C>T
NM_001329943.3(KIAA0586):c.2826-12C>T
NM_001329943.3(KIAA0586):c.2826-8C>A rs2141053167
NM_001329943.3(KIAA0586):c.2839A>G (p.Ile947Val)
NM_001329943.3(KIAA0586):c.2847A>C (p.Ser949=)
NM_001329943.3(KIAA0586):c.2849G>T (p.Arg950Ile) rs2141053576
NM_001329943.3(KIAA0586):c.2860G>T (p.Gly954Trp)
NM_001329943.3(KIAA0586):c.2877G>A (p.Gln959=)
NM_001329943.3(KIAA0586):c.2883G>A (p.Gln961=) rs1187492772
NM_001329943.3(KIAA0586):c.2885T>C (p.Ile962Thr)
NM_001329943.3(KIAA0586):c.2890C>T (p.Pro964Ser)
NM_001329943.3(KIAA0586):c.2894G>T (p.Ser965Ile) rs1161690227
NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=)
NM_001329943.3(KIAA0586):c.2924A>G (p.Glu975Gly) rs2141054763
NM_001329943.3(KIAA0586):c.2928A>G (p.Pro976=)
NM_001329943.3(KIAA0586):c.2936C>T (p.Ser979Phe)
NM_001329943.3(KIAA0586):c.2944+13G>A
NM_001329943.3(KIAA0586):c.2944+16T>A
NM_001329943.3(KIAA0586):c.2944+17T>G
NM_001329943.3(KIAA0586):c.2944+19T>A
NM_001329943.3(KIAA0586):c.2944+24dup rs768128741
NM_001329943.3(KIAA0586):c.2945-1G>C
NM_001329943.3(KIAA0586):c.2945-4T>C
NM_001329943.3(KIAA0586):c.2945-9del
NM_001329943.3(KIAA0586):c.2953A>G (p.Thr985Ala)
NM_001329943.3(KIAA0586):c.2960G>A (p.Ser987Asn)
NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=)
NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=)
NM_001329943.3(KIAA0586):c.2976T>G (p.Leu992=)
NM_001329943.3(KIAA0586):c.2977T>C (p.Phe993Leu)
NM_001329943.3(KIAA0586):c.2990G>T (p.Gly997Val)
NM_001329943.3(KIAA0586):c.2991T>C (p.Gly997=)
NM_001329943.3(KIAA0586):c.2997T>G (p.Pro999=) rs1284387922
NM_001329943.3(KIAA0586):c.2T>A (p.Met1Lys) rs2140372595
NM_001329943.3(KIAA0586):c.3018A>G (p.Lys1006=)
NM_001329943.3(KIAA0586):c.3037C>G (p.Leu1013Val)
NM_001329943.3(KIAA0586):c.3053C>A (p.Ala1018Asp) rs182274649
NM_001329943.3(KIAA0586):c.3058A>G (p.Met1020Val) rs767378597
NM_001329943.3(KIAA0586):c.306T>G (p.Pro102=)
NM_001329943.3(KIAA0586):c.3077C>T (p.Ala1026Val)
NM_001329943.3(KIAA0586):c.3089G>A (p.Gly1030Asp) rs2042116751
NM_001329943.3(KIAA0586):c.3110C>G (p.Ser1037Cys) rs367811307
NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=)
NM_001329943.3(KIAA0586):c.3129T>C (p.Asn1043=)
NM_001329943.3(KIAA0586):c.3142_3144+5del rs771240219
NM_001329943.3(KIAA0586):c.3144+15del
NM_001329943.3(KIAA0586):c.3144+1G>A
NM_001329943.3(KIAA0586):c.3144+20C>G
NM_001329943.3(KIAA0586):c.3144+20C>T
NM_001329943.3(KIAA0586):c.3144+2T>C
NM_001329943.3(KIAA0586):c.3144+3A>G rs956345090
NM_001329943.3(KIAA0586):c.3144+7G>A
NM_001329943.3(KIAA0586):c.3145-12T>C
NM_001329943.3(KIAA0586):c.3145-16G>A
NM_001329943.3(KIAA0586):c.3145-6_3145-2del
NM_001329943.3(KIAA0586):c.3145-8T>C
NM_001329943.3(KIAA0586):c.3149G>A (p.Arg1050Lys) rs1472123420
NM_001329943.3(KIAA0586):c.3152T>C (p.Val1051Ala)
NM_001329943.3(KIAA0586):c.3164T>C (p.Leu1055Pro) rs1453619075
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) rs386777947
NM_001329943.3(KIAA0586):c.3169_3171dup (p.Thr1057_Pro1058insThr)
NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)
NM_001329943.3(KIAA0586):c.3179C>G (p.Pro1060Arg)
NM_001329943.3(KIAA0586):c.3182C>T (p.Thr1061Met)
NM_001329943.3(KIAA0586):c.3185C>T (p.Pro1062Leu)
NM_001329943.3(KIAA0586):c.3190T>A (p.Cys1064Ser)
NM_001329943.3(KIAA0586):c.319G>A (p.Glu107Lys) rs2140404760
NM_001329943.3(KIAA0586):c.3206C>T (p.Pro1069Leu) rs2141182370
NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter)
NM_001329943.3(KIAA0586):c.3216G>A (p.Glu1072=) rs528416301
NM_001329943.3(KIAA0586):c.3226G>A (p.Val1076Ile)
NM_001329943.3(KIAA0586):c.3226G>T (p.Val1076Leu)
NM_001329943.3(KIAA0586):c.322G>A (p.Glu108Lys)
NM_001329943.3(KIAA0586):c.3232A>G (p.Thr1078Ala)
NM_001329943.3(KIAA0586):c.3238G>A (p.Asp1080Asn) rs2042507801
NM_001329943.3(KIAA0586):c.3250T>C (p.Cys1084Arg)
NM_001329943.3(KIAA0586):c.3266A>G (p.Asp1089Gly) rs187091758
NM_001329943.3(KIAA0586):c.3300A>T (p.Glu1100Asp)
NM_001329943.3(KIAA0586):c.3304+14_3304+19del
NM_001329943.3(KIAA0586):c.3304+5A>C
NM_001329943.3(KIAA0586):c.3304+9_3304+10insAG rs2141183723
NM_001329943.3(KIAA0586):c.3304G>A (p.Gly1102Arg)
NM_001329943.3(KIAA0586):c.3305-17T>A
NM_001329943.3(KIAA0586):c.3305-17_3305-16insG
NM_001329943.3(KIAA0586):c.3305-18_3305-17insA
NM_001329943.3(KIAA0586):c.3305-3T>C
NM_001329943.3(KIAA0586):c.3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.3305-9_3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.3307G>A (p.Asp1103Asn) rs2141192396
NM_001329943.3(KIAA0586):c.3322A>G (p.Ile1108Val)
NM_001329943.3(KIAA0586):c.3326T>C (p.Met1109Thr)
NM_001329943.3(KIAA0586):c.3338C>T (p.Thr1113Ile)
NM_001329943.3(KIAA0586):c.3339T>C (p.Thr1113=)
NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs)
NM_001329943.3(KIAA0586):c.3351C>A (p.Thr1117=)
NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs) rs2141193077
NM_001329943.3(KIAA0586):c.335A>G (p.Gln112Arg)
NM_001329943.3(KIAA0586):c.3362C>T (p.Thr1121Ile) rs2141193303
NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=)
NM_001329943.3(KIAA0586):c.3366TCC[1] (p.Pro1124del) rs770153870
NM_001329943.3(KIAA0586):c.336A>G (p.Gln112=)
NM_001329943.3(KIAA0586):c.3371C>T (p.Pro1124Leu)
NM_001329943.3(KIAA0586):c.3372A>G (p.Pro1124=)
NM_001329943.3(KIAA0586):c.3373G>A (p.Ala1125Thr) rs2141193523
NM_001329943.3(KIAA0586):c.3378G>A (p.Ala1126=)
NM_001329943.3(KIAA0586):c.3381A>C (p.Ala1127=)
NM_001329943.3(KIAA0586):c.3390C>T (p.Thr1130=) rs2141193804
NM_001329943.3(KIAA0586):c.3394A>G (p.Thr1132Ala)
NM_001329943.3(KIAA0586):c.3399G>T (p.Leu1133Phe) rs1409454378
NM_001329943.3(KIAA0586):c.33A>G (p.Lys11=) rs2140373069
NM_001329943.3(KIAA0586):c.33A>T (p.Lys11Asn)
NM_001329943.3(KIAA0586):c.340+13T>G
NM_001329943.3(KIAA0586):c.340+14A>G
NM_001329943.3(KIAA0586):c.340+25dup rs770708728
NM_001329943.3(KIAA0586):c.340+6del
NM_001329943.3(KIAA0586):c.3405T>G (p.Asp1135Glu)
NM_001329943.3(KIAA0586):c.341-17G>C
NM_001329943.3(KIAA0586):c.341-2A>G
NM_001329943.3(KIAA0586):c.3415_3416delinsTG (p.Asp1139Cys) rs2141194171
NM_001329943.3(KIAA0586):c.3418A>G (p.Lys1140Glu)
NM_001329943.3(KIAA0586):c.3427G>T (p.Val1143Leu)
NM_001329943.3(KIAA0586):c.3433A>T (p.Ser1145Cys)
NM_001329943.3(KIAA0586):c.3437C>T (p.Pro1146Leu) rs2042587558
NM_001329943.3(KIAA0586):c.3438A>G (p.Pro1146=)
NM_001329943.3(KIAA0586):c.344A>C (p.Asn115Thr)
NM_001329943.3(KIAA0586):c.3451C>A (p.Pro1151Thr) rs2141194729
NM_001329943.3(KIAA0586):c.3458G>T (p.Gly1153Val) rs2141194889
NM_001329943.3(KIAA0586):c.345T>A (p.Asn115Lys) rs778492541
NM_001329943.3(KIAA0586):c.3461A>T (p.Asp1154Val)
NM_001329943.3(KIAA0586):c.3474A>C (p.Pro1158=) rs759687892
NM_001329943.3(KIAA0586):c.3479A>C (p.Glu1160Ala)
NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)
NM_001329943.3(KIAA0586):c.3490C>T (p.Pro1164Ser)
NM_001329943.3(KIAA0586):c.3500C>T (p.Pro1167Leu)
NM_001329943.3(KIAA0586):c.3505GAA[1] (p.Glu1170del) rs778377845
NM_001329943.3(KIAA0586):c.3510A>T (p.Glu1170Asp)
NM_001329943.3(KIAA0586):c.3518C>G (p.Pro1173Arg) rs2141195740
NM_001329943.3(KIAA0586):c.3527+17T>C
NM_001329943.3(KIAA0586):c.3528-15T>G rs752835695
NM_001329943.3(KIAA0586):c.3528-16G>A
NM_001329943.3(KIAA0586):c.3544A>G (p.Lys1182Glu)
NM_001329943.3(KIAA0586):c.3561G>A (p.Glu1187=)
NM_001329943.3(KIAA0586):c.3562A>T (p.Ser1188Cys)
NM_001329943.3(KIAA0586):c.3564T>C (p.Ser1188=)
NM_001329943.3(KIAA0586):c.3566T>C (p.Met1189Thr)
NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser)
NM_001329943.3(KIAA0586):c.3589C>T (p.Pro1197Ser)
NM_001329943.3(KIAA0586):c.3598C>G (p.Pro1200Ala)
NM_001329943.3(KIAA0586):c.3620C>T (p.Pro1207Leu) rs750251144
NM_001329943.3(KIAA0586):c.3624C>T (p.Ala1208=) rs367676896
NM_001329943.3(KIAA0586):c.362A>T (p.Gln121Leu)
NM_001329943.3(KIAA0586):c.3631A>C (p.Lys1211Gln) rs754567597
NM_001329943.3(KIAA0586):c.3633G>C (p.Lys1211Asn) rs780785984
NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs) rs2141202895
NM_001329943.3(KIAA0586):c.3639T>G (p.Pro1213=) rs2141202944
NM_001329943.3(KIAA0586):c.363G>A (p.Gln121=) rs368352741
NM_001329943.3(KIAA0586):c.363G>T (p.Gln121His) rs368352741
NM_001329943.3(KIAA0586):c.3645C>T (p.Pro1215=)
NM_001329943.3(KIAA0586):c.3651G>A (p.Gln1217=) rs1489789614
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) rs746136288
NM_001329943.3(KIAA0586):c.3669A>G (p.Ser1223=)
NM_001329943.3(KIAA0586):c.3670T>G (p.Ser1224Ala) rs1292752792
NM_001329943.3(KIAA0586):c.3673A>G (p.Thr1225Ala)
NM_001329943.3(KIAA0586):c.367A>T (p.Thr123Ser) rs183240083
NM_001329943.3(KIAA0586):c.3685A>C (p.Thr1229Pro)
NM_001329943.3(KIAA0586):c.368C>A (p.Thr123Lys) rs2140422825
NM_001329943.3(KIAA0586):c.36A>G (p.Lys12=) rs372215354
NM_001329943.3(KIAA0586):c.3704C>T (p.Thr1235Ile)
NM_001329943.3(KIAA0586):c.370A>G (p.Met124Val) rs2037453984
NM_001329943.3(KIAA0586):c.3716C>T (p.Thr1239Ile)
NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs)
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) rs1595348112
NM_001329943.3(KIAA0586):c.374G>A (p.Gly125Glu)
NM_001329943.3(KIAA0586):c.3777C>T (p.Pro1259=)
NM_001329943.3(KIAA0586):c.3780G>A (p.Lys1260=)
NM_001329943.3(KIAA0586):c.3781+18A>G
NM_001329943.3(KIAA0586):c.3782-18T>A
NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=)
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
NM_001329943.3(KIAA0586):c.3794T>C (p.Ile1265Thr) rs756960694
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) rs1425457941
NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)
NM_001329943.3(KIAA0586):c.3808A>G (p.Thr1270Ala)
NM_001329943.3(KIAA0586):c.3813C>T (p.Asn1271=)
NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=)
NM_001329943.3(KIAA0586):c.3820_3822del (p.Asp1274del) rs1399193101
NM_001329943.3(KIAA0586):c.3821A>G (p.Asp1274Gly)
NM_001329943.3(KIAA0586):c.3824G>C (p.Ser1275Thr) rs748648408
NM_001329943.3(KIAA0586):c.3843T>A (p.His1281Gln)
NM_001329943.3(KIAA0586):c.3850G>A (p.Val1284Ile)
NM_001329943.3(KIAA0586):c.3858+16C>T
NM_001329943.3(KIAA0586):c.3858+4A>G rs2042748796
NM_001329943.3(KIAA0586):c.3858+7A>G rs771949597
NM_001329943.3(KIAA0586):c.3858+9C>T
NM_001329943.3(KIAA0586):c.3859-13A>G
NM_001329943.3(KIAA0586):c.3859-16T>A
NM_001329943.3(KIAA0586):c.3859-3_3865del
NM_001329943.3(KIAA0586):c.3868_3869delinsGT (p.Pro1290Val)
NM_001329943.3(KIAA0586):c.3871C>T (p.Pro1291Ser)
NM_001329943.3(KIAA0586):c.3883C>G (p.Gln1295Glu) rs2141237535
NM_001329943.3(KIAA0586):c.3885A>G (p.Gln1295=) rs779179754
NM_001329943.3(KIAA0586):c.3886G>A (p.Val1296Met)
NM_001329943.3(KIAA0586):c.3896T>C (p.Met1299Thr)
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs) rs745949846
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846
NM_001329943.3(KIAA0586):c.3906A>G (p.Lys1302=)
NM_001329943.3(KIAA0586):c.3917C>T (p.Ala1306Val) rs1369311999
NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=)
NM_001329943.3(KIAA0586):c.3940A>C (p.Lys1314Gln) rs1270703288
NM_001329943.3(KIAA0586):c.3940A>G (p.Lys1314Glu)
NM_001329943.3(KIAA0586):c.3966C>T (p.Ser1322=) rs757393939
NM_001329943.3(KIAA0586):c.3968A>G (p.Gln1323Arg)
NM_001329943.3(KIAA0586):c.3990+19G>A
NM_001329943.3(KIAA0586):c.3990G>A (p.Glu1330=)
NM_001329943.3(KIAA0586):c.3991-1G>A
NM_001329943.3(KIAA0586):c.3997G>A (p.Glu1333Lys)
NM_001329943.3(KIAA0586):c.4001A>G (p.Asn1334Ser)
NM_001329943.3(KIAA0586):c.4002C>T (p.Asn1334=)
NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)
NM_001329943.3(KIAA0586):c.4028A>G (p.Gln1343Arg)
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) rs886039809
NM_001329943.3(KIAA0586):c.4033C>A (p.Pro1345Thr)
NM_001329943.3(KIAA0586):c.4048G>A (p.Ala1350Thr)
NM_001329943.3(KIAA0586):c.4049C>A (p.Ala1350Glu)
NM_001329943.3(KIAA0586):c.4054G>A (p.Glu1352Lys)
NM_001329943.3(KIAA0586):c.4073A>G (p.His1358Arg) rs1260148388
NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs) rs762932867
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs) rs867342730
NM_001329943.3(KIAA0586):c.4089G>C (p.Gln1363His) rs2043350107
NM_001329943.3(KIAA0586):c.4096G>A (p.Val1366Ile) rs2043350903
NM_001329943.3(KIAA0586):c.410+3A>G
NM_001329943.3(KIAA0586):c.411-12T>G
NM_001329943.3(KIAA0586):c.411-1347C>T
NM_001329943.3(KIAA0586):c.411-1348dup
NM_001329943.3(KIAA0586):c.411-1349C>T
NM_001329943.3(KIAA0586):c.411-1355C>T
NM_001329943.3(KIAA0586):c.411-1364A>G
NM_001329943.3(KIAA0586):c.411-1371G>A rs2038350104
NM_001329943.3(KIAA0586):c.411-1380G>A
NM_001329943.3(KIAA0586):c.411-1381C>T rs749413114
NM_001329943.3(KIAA0586):c.411-1404G>A
NM_001329943.3(KIAA0586):c.411-1405T>C
NM_001329943.3(KIAA0586):c.411-1409C>T rs2140521828
NM_001329943.3(KIAA0586):c.411-1427A>G
NM_001329943.3(KIAA0586):c.411-1431C>G
NM_001329943.3(KIAA0586):c.411-1448G>A
NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG
NM_001329943.3(KIAA0586):c.411-1491G>T rs2140520688
NM_001329943.3(KIAA0586):c.411-1494C>A
NM_001329943.3(KIAA0586):c.411-15dup
NM_001329943.3(KIAA0586):c.411-4A>G
NM_001329943.3(KIAA0586):c.4111T>A (p.Ser1371Thr)
NM_001329943.3(KIAA0586):c.4114T>C (p.Leu1372=)
NM_001329943.3(KIAA0586):c.4122A>G (p.Gln1374=)
NM_001329943.3(KIAA0586):c.4148G>A (p.Arg1383Gln)
NM_001329943.3(KIAA0586):c.4156G>T (p.Asp1386Tyr) rs2141310739
NM_001329943.3(KIAA0586):c.4168+13A>G rs375052904
NM_001329943.3(KIAA0586):c.4168+5A>G
NM_001329943.3(KIAA0586):c.4168+6C>T
NM_001329943.3(KIAA0586):c.4168+8C>A rs1331278032
NM_001329943.3(KIAA0586):c.4205C>A (p.Pro1402Gln)
NM_001329943.3(KIAA0586):c.4206A>C (p.Pro1402=) rs369935221
NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs)
NM_001329943.3(KIAA0586):c.421A>G (p.Met141Val) rs1164983892
NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs) rs2141430525
NM_001329943.3(KIAA0586):c.4226A>G (p.Glu1409Gly) rs2141430559
NM_001329943.3(KIAA0586):c.4227G>T (p.Glu1409Asp) rs746899731
NM_001329943.3(KIAA0586):c.4231G>A (p.Glu1411Lys)
NM_001329943.3(KIAA0586):c.4241C>T (p.Ser1414Phe)
NM_001329943.3(KIAA0586):c.4249G>A (p.Val1417Ile) rs1356513118
NM_001329943.3(KIAA0586):c.4275A>G (p.Ala1425=)
NM_001329943.3(KIAA0586):c.4286A>G (p.Asp1429Gly) rs548063080
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4305C>T (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4306G>A (p.Ala1436Thr)
NM_001329943.3(KIAA0586):c.4316T>C (p.Phe1439Ser) rs2141431422
NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter)
NM_001329943.3(KIAA0586):c.4323+12A>G
NM_001329943.3(KIAA0586):c.4323+3A>G
NM_001329943.3(KIAA0586):c.4323+4C>T rs2044176022
NM_001329943.3(KIAA0586):c.4323+5C>G rs2141431529
NM_001329943.3(KIAA0586):c.4324-11A>T
NM_001329943.3(KIAA0586):c.4324-16A>G rs376320678
NM_001329943.3(KIAA0586):c.4324-4T>G rs1429230924
NM_001329943.3(KIAA0586):c.4324-6A>G
NM_001329943.3(KIAA0586):c.4329A>G (p.Gln1443=) rs2141479527
NM_001329943.3(KIAA0586):c.4332A>G (p.Leu1444=) rs2141479570
NM_001329943.3(KIAA0586):c.4345G>T (p.Asp1449Tyr)
NM_001329943.3(KIAA0586):c.4346A>T (p.Asp1449Val) rs2141479700
NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter)
NM_001329943.3(KIAA0586):c.4352A>G (p.Lys1451Arg)
NM_001329943.3(KIAA0586):c.4363_4364delinsAT (p.His1455Ile) rs2141479904
NM_001329943.3(KIAA0586):c.4365C>G (p.His1455Gln) rs1051498929
NM_001329943.3(KIAA0586):c.4371A>G (p.Pro1457=)
NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter)
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)
NM_001329943.3(KIAA0586):c.4386A>G (p.Leu1462=)
NM_001329943.3(KIAA0586):c.4392T>A (p.Val1464=)
NM_001329943.3(KIAA0586):c.4398T>C (p.Asn1466=)
NM_001329943.3(KIAA0586):c.4399A>C (p.Lys1467Gln)
NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)
NM_001329943.3(KIAA0586):c.4429+11T>A
NM_001329943.3(KIAA0586):c.4429+16A>G
NM_001329943.3(KIAA0586):c.4429+17T>C
NM_001329943.3(KIAA0586):c.4429+4A>G rs1017273332
NM_001329943.3(KIAA0586):c.4430-15T>A rs1212572767
NM_001329943.3(KIAA0586):c.4430-15T>C
NM_001329943.3(KIAA0586):c.4435C>T (p.Pro1479Ser)
NM_001329943.3(KIAA0586):c.4437A>G (p.Pro1479=) rs780867053
NM_001329943.3(KIAA0586):c.4444A>G (p.Met1482Val)
NM_001329943.3(KIAA0586):c.4446G>A (p.Met1482Ile)
NM_001329943.3(KIAA0586):c.444G>T (p.Lys148Asn)
NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter) rs2140098022
NM_001329943.3(KIAA0586):c.4458A>T (p.Gln1486His) rs2140098041
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) rs370303493
NM_001329943.3(KIAA0586):c.447A>G (p.Val149=)
NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=)
NM_001329943.3(KIAA0586):c.4492T>A (p.Ser1498Thr)
NM_001329943.3(KIAA0586):c.4495+12A>G rs2140098467
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del
NM_001329943.3(KIAA0586):c.4495+3729T>C
NM_001329943.3(KIAA0586):c.4495+3730T>G
NM_001329943.3(KIAA0586):c.4495+3732T>A
NM_001329943.3(KIAA0586):c.4495+3737T>G
NM_001329943.3(KIAA0586):c.4495+3755del rs2140128017
NM_001329943.3(KIAA0586):c.4495+3762T>C
NM_001329943.3(KIAA0586):c.4495+3767A>T rs2140128191
NM_001329943.3(KIAA0586):c.4495+3779A>G rs968172462
NM_001329943.3(KIAA0586):c.4495+3779A>T rs968172462
NM_001329943.3(KIAA0586):c.4495+3795_4495+3796inv
NM_001329943.3(KIAA0586):c.4495+3796G>T
NM_001329943.3(KIAA0586):c.4495+3797T>C
NM_001329943.3(KIAA0586):c.4495+4A>G
NM_001329943.3(KIAA0586):c.4495+6A>G
NM_001329943.3(KIAA0586):c.4495+7T>C
NM_001329943.3(KIAA0586):c.4496-17G>A
NM_001329943.3(KIAA0586):c.4496-3794A>G
NM_001329943.3(KIAA0586):c.4496-3799A>G
NM_001329943.3(KIAA0586):c.4496-3803T>G
NM_001329943.3(KIAA0586):c.4496-3814G>A rs2140128786
NM_001329943.3(KIAA0586):c.4496-3816C>T
NM_001329943.3(KIAA0586):c.4496G>T (p.Gly1499Val)
NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg)
NM_001329943.3(KIAA0586):c.4505C>T (p.Ala1502Val) rs2140156164
NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=)
NM_001329943.3(KIAA0586):c.4515C>G (p.Leu1505=) rs2140156234
NM_001329943.3(KIAA0586):c.4517C>T (p.Ser1506Phe)
NM_001329943.3(KIAA0586):c.4518C>T (p.Ser1506=)
NM_001329943.3(KIAA0586):c.4524A>G (p.Ser1508=)
NM_001329943.3(KIAA0586):c.4525C>G (p.Gln1509Glu)
NM_001329943.3(KIAA0586):c.4531C>A (p.Pro1511Thr) rs2140156359
NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=)
NM_001329943.3(KIAA0586):c.4562C>T (p.Ser1521Leu)
NM_001329943.3(KIAA0586):c.4564G>C (p.Val1522Leu)
NM_001329943.3(KIAA0586):c.4564G>T (p.Val1522Leu) rs542432352
NM_001329943.3(KIAA0586):c.456A>G (p.Leu152=)
NM_001329943.3(KIAA0586):c.4575_4576delinsAC (p.Asp1526His) rs2140156856
NM_001329943.3(KIAA0586):c.4585C>T (p.Gln1529Ter)
NM_001329943.3(KIAA0586):c.4590T>G (p.Ser1530=) rs2140157005
NM_001329943.3(KIAA0586):c.4595G>A (p.Ser1532Asn) rs2047081237
NM_001329943.3(KIAA0586):c.4596T>C (p.Ser1532=)
NM_001329943.3(KIAA0586):c.4616A>G (p.Asp1539Gly)
NM_001329943.3(KIAA0586):c.4641C>T (p.Thr1547=) rs1301341396
NM_001329943.3(KIAA0586):c.4641del (p.Phe1548fs)
NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu)
NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)
NM_001329943.3(KIAA0586):c.468C>G (p.Gly156=)
NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)
NM_001329943.3(KIAA0586):c.480T>A (p.Asp160Glu) rs1202184988
NM_001329943.3(KIAA0586):c.492G>A (p.Gln164=)
NM_001329943.3(KIAA0586):c.502A>G (p.Ile168Val)
NM_001329943.3(KIAA0586):c.508C>T (p.Pro170Ser)
NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu)
NM_001329943.3(KIAA0586):c.567C>T (p.Thr189=)
NM_001329943.3(KIAA0586):c.575C>T (p.Pro192Leu) rs748340175
NM_001329943.3(KIAA0586):c.576G>T (p.Pro192=)
NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT
NM_001329943.3(KIAA0586):c.585+17_585+29del
NM_001329943.3(KIAA0586):c.586-16G>T
NM_001329943.3(KIAA0586):c.586-17T>C
NM_001329943.3(KIAA0586):c.586-4T>G
NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu)
NM_001329943.3(KIAA0586):c.602A>G (p.Glu201Gly) rs2038635110
NM_001329943.3(KIAA0586):c.605C>T (p.Ala202Val)
NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs) rs2140565674
NM_001329943.3(KIAA0586):c.625G>C (p.Glu209Gln)
NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His)
NM_001329943.3(KIAA0586):c.636T>C (p.Ser212=)
NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser) rs2140373651
NM_001329943.3(KIAA0586):c.642A>G (p.Leu214=)
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys) rs202124602
NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs)
NM_001329943.3(KIAA0586):c.655A>G (p.Lys219Glu) rs1373940232
NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr)
NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro)
NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=)
NM_001329943.3(KIAA0586):c.701A>G (p.Lys234Arg)
NM_001329943.3(KIAA0586):c.729C>G (p.His243Gln) rs774888789
NM_001329943.3(KIAA0586):c.729C>T (p.His243=) rs774888789
NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter) rs376338487
NM_001329943.3(KIAA0586):c.745G>A (p.Val249Met) rs2140567428
NM_001329943.3(KIAA0586):c.750T>A (p.Phe250Leu) rs577258273
NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser)
NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del) rs1290912165
NM_001329943.3(KIAA0586):c.786A>G (p.Gln262=) rs1487078229
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) rs1203751352
NM_001329943.3(KIAA0586):c.792A>T (p.Gln264His) rs2140568101
NM_001329943.3(KIAA0586):c.807+10A>C rs368833496
NM_001329943.3(KIAA0586):c.807+12A>G
NM_001329943.3(KIAA0586):c.807+19G>C
NM_001329943.3(KIAA0586):c.807+1G>T
NM_001329943.3(KIAA0586):c.807+8del rs2140568510
NM_001329943.3(KIAA0586):c.807+9A>G rs2140568561
NM_001329943.3(KIAA0586):c.808-13T>G rs1364907790
NM_001329943.3(KIAA0586):c.808-20A>C
NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)
NM_001329943.3(KIAA0586):c.811C>T (p.His271Tyr) rs1417240682
NM_001329943.3(KIAA0586):c.815T>G (p.Phe272Cys) rs2039078597
NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His)
NM_001329943.3(KIAA0586):c.831C>G (p.Leu277=)
NM_001329943.3(KIAA0586):c.832A>G (p.Lys278Glu) rs769369839
NM_001329943.3(KIAA0586):c.835A>C (p.Thr279Pro)
NM_001329943.3(KIAA0586):c.839G>C (p.Ser280Thr) rs2039080763
NM_001329943.3(KIAA0586):c.852T>C (p.Pro284=) rs2140662420
NM_001329943.3(KIAA0586):c.853G>C (p.Val285Leu)
NM_001329943.3(KIAA0586):c.857G>A (p.Ser286Asn)
NM_001329943.3(KIAA0586):c.859A>C (p.Met287Leu) rs2140662489
NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr)
NM_001329943.3(KIAA0586):c.869C>G (p.Ser290Cys)
NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg)
NM_001329943.3(KIAA0586):c.891C>A (p.Ser297=)
NM_001329943.3(KIAA0586):c.913C>T (p.Leu305Phe)
NM_001329943.3(KIAA0586):c.919A>G (p.Ser307Gly) rs2140663692
NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=)
NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs) rs2140664007
NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)
NM_001329943.3(KIAA0586):c.942C>T (p.Asn314=)
NM_001329943.3(KIAA0586):c.953C>T (p.Ser318Phe) rs2140664162
NM_001329943.3(KIAA0586):c.961+11G>T
NM_001329943.3(KIAA0586):c.961+1G>A
NM_001329943.3(KIAA0586):c.961+6_961+7del rs1308763926
NM_001329943.3(KIAA0586):c.962-10dup rs1431902070
NM_001329943.3(KIAA0586):c.962-14A>C rs200528557
NM_001329943.3(KIAA0586):c.962-19A>T
NM_001329943.3(KIAA0586):c.962-3A>C
NM_001329943.3(KIAA0586):c.975A>G (p.Glu325=)
NM_001329943.3(KIAA0586):c.976G>A (p.Val326Ile) rs1317366636
NM_001329943.3(KIAA0586):c.983A>T (p.Asp328Val) rs780810159
NM_001378615.1(CC2D2A):c.-178T>C rs886059135
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val) rs16892095
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg) rs762998472
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001378615.1(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn) rs863225177
NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro) rs754221308
NM_001378615.1(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val) rs747187783
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.2010G>C (p.Glu670Asp) rs763596840
NM_001378615.1(CC2D2A):c.2338+1G>C rs2109050324
NM_001378615.1(CC2D2A):c.2339-2A>C rs1719092280
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT rs750398145
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.2624C>A (p.Ser875Ter) rs200904521
NM_001378615.1(CC2D2A):c.2671G>A (p.Glu891Lys) rs863225178
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr) rs1719718448
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs) rs2109070129
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) rs1719933188
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His) rs863225169
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.3398+13T>C rs886059183
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
NM_001378615.1(CC2D2A):c.3643A>C (p.Ser1215Arg) rs765661601
NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs) rs863225171
NM_001378615.1(CC2D2A):c.3772-1G>T rs863225172
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs) rs763735590
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001378615.1(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001378615.1(CC2D2A):c.3976-3C>A rs576298659
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys) rs1720848250
NM_001378615.1(CC2D2A):c.40-122A>C rs9993580
NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs) rs1577396376
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001378615.1(CC2D2A):c.4389A>C (p.Lys1463Asn) rs1407804611
NM_001378615.1(CC2D2A):c.4437+1G>A rs786205568
NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala) rs886059185
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter) rs1553845300
NM_001378615.1(CC2D2A):c.4491A>C (p.Gln1497His) rs863225179
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu) rs1485264498
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
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.4844_4847del (p.Ser1615fs) rs863225175
NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs) rs1392635342
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs) rs746415983
NM_001378615.1(CC2D2A):c.667G>A (p.Glu223Lys)
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys) rs1716561509
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=) rs764952763
NM_001382391.1(CSPP1):c.-10-13T>A
NM_001382391.1(CSPP1):c.-10-1G>T
NM_001382391.1(CSPP1):c.-10-20A>G
NM_001382391.1(CSPP1):c.-10-5T>A rs770289522
NM_001382391.1(CSPP1):c.-10-5del
NM_001382391.1(CSPP1):c.-10-5dup rs536000854
NM_001382391.1(CSPP1):c.-103C>T rs202181896
NM_001382391.1(CSPP1):c.-104A>G
NM_001382391.1(CSPP1):c.-104A>T rs1805077545
NM_001382391.1(CSPP1):c.-106C>T rs2129538421
NM_001382391.1(CSPP1):c.-108C>T rs2129538420
NM_001382391.1(CSPP1):c.-121A>C
NM_001382391.1(CSPP1):c.-125C>A
NM_001382391.1(CSPP1):c.-128C>T rs775895663
NM_001382391.1(CSPP1):c.-138C>A rs373705126
NM_001382391.1(CSPP1):c.-138C>T
NM_001382391.1(CSPP1):c.-139G>C
NM_001382391.1(CSPP1):c.-142C>A rs1023702149
NM_001382391.1(CSPP1):c.-143T>A rs1164437313
NM_001382391.1(CSPP1):c.-147C>G
NM_001382391.1(CSPP1):c.-149T>A rs768356971
NM_001382391.1(CSPP1):c.-149T>G
NM_001382391.1(CSPP1):c.-150A>T
NM_001382391.1(CSPP1):c.-36C>T
NM_001382391.1(CSPP1):c.-43A>C
NM_001382391.1(CSPP1):c.-45_-42del rs762530713
NM_001382391.1(CSPP1):c.-47A>G
NM_001382391.1(CSPP1):c.-54_-51del
NM_001382391.1(CSPP1):c.-56del
NM_001382391.1(CSPP1):c.-57C>G
NM_001382391.1(CSPP1):c.-66G>A rs2129538438
NM_001382391.1(CSPP1):c.-68G>A rs2129538437
NM_001382391.1(CSPP1):c.-68G>C
NM_001382391.1(CSPP1):c.-69C>T rs1294428066
NM_001382391.1(CSPP1):c.-73G>C
NM_001382391.1(CSPP1):c.-74G>A
NM_001382391.1(CSPP1):c.-80C>G rs745897839
NM_001382391.1(CSPP1):c.-85T>C rs2129538434
NM_001382391.1(CSPP1):c.-90C>T
NM_001382391.1(CSPP1):c.-91G>A rs200332502
NM_001382391.1(CSPP1):c.-94A>G rs1382795214
NM_001382391.1(CSPP1):c.-96C>G rs751458139
NM_001382391.1(CSPP1):c.100-11G>A
NM_001382391.1(CSPP1):c.100-12T>C
NM_001382391.1(CSPP1):c.100-2A>C
NM_001382391.1(CSPP1):c.1022+1G>C
NM_001382391.1(CSPP1):c.1022+1G>T rs2129547115
NM_001382391.1(CSPP1):c.1022G>A (p.Ser341Asn)
NM_001382391.1(CSPP1):c.1023-14C>T
NM_001382391.1(CSPP1):c.1023-16G>A
NM_001382391.1(CSPP1):c.1023-16_1023-13del
NM_001382391.1(CSPP1):c.1023-3T>C
NM_001382391.1(CSPP1):c.1023-4T>G
NM_001382391.1(CSPP1):c.1023-7dup rs781187284
NM_001382391.1(CSPP1):c.1023-9T>A
NM_001382391.1(CSPP1):c.1024G>T (p.Ala342Ser)
NM_001382391.1(CSPP1):c.1027C>T (p.Pro343Ser)
NM_001382391.1(CSPP1):c.1029A>T (p.Pro343=)
NM_001382391.1(CSPP1):c.1030G>T (p.Asp344Tyr) rs2129547771
NM_001382391.1(CSPP1):c.1045A>G (p.Lys349Glu)
NM_001382391.1(CSPP1):c.1051G>A (p.Ala351Thr)
NM_001382391.1(CSPP1):c.1056T>A (p.Asn352Lys) rs1815423493
NM_001382391.1(CSPP1):c.1066T>C (p.Cys356Arg)
NM_001382391.1(CSPP1):c.106T>C (p.Leu36=)
NM_001382391.1(CSPP1):c.1078G>T (p.Ala360Ser)
NM_001382391.1(CSPP1):c.1083del (p.Met362fs)
NM_001382391.1(CSPP1):c.108G>T (p.Leu36Phe) rs1807945498
NM_001382391.1(CSPP1):c.1093+16C>A
NM_001382391.1(CSPP1):c.1093+16C>G
NM_001382391.1(CSPP1):c.1093+17del rs2129547787
NM_001382391.1(CSPP1):c.1093+3A>G rs1815432822
NM_001382391.1(CSPP1):c.1094-6A>G
NM_001382391.1(CSPP1):c.1100A>G (p.Glu367Gly) rs2129549763
NM_001382391.1(CSPP1):c.1101A>G (p.Glu367=) rs768714635
NM_001382391.1(CSPP1):c.1102G>A (p.Asp368Asn)
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter) rs374703898
NM_001382391.1(CSPP1):c.1111C>T (p.Leu371Phe)
NM_001382391.1(CSPP1):c.1124G>A (p.Arg375Lys) rs748162424
NM_001382391.1(CSPP1):c.1131G>A (p.Glu377=)
NM_001382391.1(CSPP1):c.1138A>G (p.Arg380Gly) rs1816951976
NM_001382391.1(CSPP1):c.114G>A (p.Ala38=) rs566786304
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter) rs886044058
NM_001382391.1(CSPP1):c.1172A>G (p.Gln391Arg)
NM_001382391.1(CSPP1):c.1187+19T>A
NM_001382391.1(CSPP1):c.1187+1G>A
NM_001382391.1(CSPP1):c.1187+7A>G
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln) rs760205035
NM_001382391.1(CSPP1):c.1187G>C (p.Arg396Pro) rs760205035
NM_001382391.1(CSPP1):c.1188-15T>G
NM_001382391.1(CSPP1):c.1188-20A>C
NM_001382391.1(CSPP1):c.1188-2A>G
NM_001382391.1(CSPP1):c.1188-3T>C
NM_001382391.1(CSPP1):c.1188-5T>A
NM_001382391.1(CSPP1):c.1196A>G (p.Asp399Gly)
NM_001382391.1(CSPP1):c.1198T>G (p.Leu400Val) rs2129550393
NM_001382391.1(CSPP1):c.1209G>C (p.Arg403Ser)
NM_001382391.1(CSPP1):c.1209G>T (p.Arg403Ser) rs370123119
NM_001382391.1(CSPP1):c.1210G>T (p.Val404Phe)
NM_001382391.1(CSPP1):c.1218G>A (p.Ala406=)
NM_001382391.1(CSPP1):c.1234C>T (p.Pro412Ser) rs201880658
NM_001382391.1(CSPP1):c.123T>G (p.Ser41=) rs775044108
NM_001382391.1(CSPP1):c.1245+14del rs760948267
NM_001382391.1(CSPP1):c.1245+22_1245+36del rs754206451
NM_001382391.1(CSPP1):c.1245+7G>A
NM_001382391.1(CSPP1):c.1245G>T (p.Ser415=)
NM_001382391.1(CSPP1):c.126A>G (p.Glu42=) rs1283210787
NM_001382391.1(CSPP1):c.1288-11_1288-8del
NM_001382391.1(CSPP1):c.1288-12T>C
NM_001382391.1(CSPP1):c.1288-12del
NM_001382391.1(CSPP1):c.1288-12dup rs759923250
NM_001382391.1(CSPP1):c.1291G>A (p.Asp431Asn)
NM_001382391.1(CSPP1):c.1298T>G (p.Leu433Arg)
NM_001382391.1(CSPP1):c.1313T>C (p.Val438Ala) rs2129550845
NM_001382391.1(CSPP1):c.1317A>C (p.Ala439=)
NM_001382391.1(CSPP1):c.1320A>G (p.Pro440=) rs1817847996
NM_001382391.1(CSPP1):c.1336A>G (p.Met446Val) rs2129550849
NM_001382391.1(CSPP1):c.1342C>T (p.Pro448Ser) rs2129550850
NM_001382391.1(CSPP1):c.1359A>G (p.Arg453=)
NM_001382391.1(CSPP1):c.1384C>T (p.Pro462Ser)
NM_001382391.1(CSPP1):c.1395C>A (p.Ala465=)
NM_001382391.1(CSPP1):c.1399T>C (p.Ser467Pro) rs747312980
NM_001382391.1(CSPP1):c.1402G>C (p.Val468Leu) rs376880257
NM_001382391.1(CSPP1):c.1406C>T (p.Pro469Leu)
NM_001382391.1(CSPP1):c.140dup (p.Ile48fs)
NM_001382391.1(CSPP1):c.1410C>T (p.Pro470=)
NM_001382391.1(CSPP1):c.1424A>G (p.His475Arg) rs2129550870
NM_001382391.1(CSPP1):c.1425T>G (p.His475Gln)
NM_001382391.1(CSPP1):c.1454G>T (p.Arg485Leu) rs767353646
NM_001382391.1(CSPP1):c.1456A>G (p.Ser486Gly)
NM_001382391.1(CSPP1):c.1457G>A (p.Ser486Asn)
NM_001382391.1(CSPP1):c.1472C>A (p.Ala491Asp) rs2129550877
NM_001382391.1(CSPP1):c.1497-6A>G
NM_001382391.1(CSPP1):c.1497-8T>C
NM_001382391.1(CSPP1):c.1498A>T (p.Ile500Phe)
NM_001382391.1(CSPP1):c.1504C>T (p.Pro502Ser)
NM_001382391.1(CSPP1):c.1505del (p.Pro502fs) rs1818317027
NM_001382391.1(CSPP1):c.1515A>G (p.Pro505=) rs2129551348
NM_001382391.1(CSPP1):c.1521C>G (p.Pro507=)
NM_001382391.1(CSPP1):c.1541C>A (p.Thr514Asn)
NM_001382391.1(CSPP1):c.1544_1547del (p.Asn515fs) rs752908017
NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter) rs756752153
NM_001382391.1(CSPP1):c.1554T>G (p.Thr518=) rs1818326006
NM_001382391.1(CSPP1):c.1556C>A (p.Pro519His)
NM_001382391.1(CSPP1):c.1567G>T (p.Ala523Ser)
NM_001382391.1(CSPP1):c.1569A>T (p.Ala523=) rs2129551359
NM_001382391.1(CSPP1):c.1571A>T (p.Tyr524Phe) rs1818329945
NM_001382391.1(CSPP1):c.1574A>G (p.Tyr525Cys) rs2129551362
NM_001382391.1(CSPP1):c.1576T>A (p.Phe526Ile) rs2129551363
NM_001382391.1(CSPP1):c.1599C>T (p.Phe533=)
NM_001382391.1(CSPP1):c.1600G>T (p.Asp534Tyr)
NM_001382391.1(CSPP1):c.1612G>T (p.Ala538Ser)
NM_001382391.1(CSPP1):c.1616A>G (p.Tyr539Cys) rs766545455
NM_001382391.1(CSPP1):c.1618+12A>G rs368578567
NM_001382391.1(CSPP1):c.1618+15G>T
NM_001382391.1(CSPP1):c.1618+20A>C rs756484052
NM_001382391.1(CSPP1):c.1618+8A>G
NM_001382391.1(CSPP1):c.1619-13T>C
NM_001382391.1(CSPP1):c.1619-8T>C rs2129551458
NM_001382391.1(CSPP1):c.1619-8del
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs)
NM_001382391.1(CSPP1):c.162C>T (p.Asn54=)
NM_001382391.1(CSPP1):c.1638C>T (p.Gly546=) rs1470629361
NM_001382391.1(CSPP1):c.1639G>C (p.Val547Leu) rs772097768
NM_001382391.1(CSPP1):c.1643A>C (p.Gln548Pro) rs369723292
NM_001382391.1(CSPP1):c.1643A>G (p.Gln548Arg) rs369723292
NM_001382391.1(CSPP1):c.1648G>A (p.Ala550Thr) rs1028530380
NM_001382391.1(CSPP1):c.1661G>A (p.Ser554Asn) rs2129551469
NM_001382391.1(CSPP1):c.166C>T (p.Pro56Ser)
NM_001382391.1(CSPP1):c.1677C>T (p.His559=)
NM_001382391.1(CSPP1):c.1691C>G (p.Pro564Arg)
NM_001382391.1(CSPP1):c.1691C>T (p.Pro564Leu) rs2129551479
NM_001382391.1(CSPP1):c.1697+5_1697+16dup
NM_001382391.1(CSPP1):c.1698-12T>C
NM_001382391.1(CSPP1):c.1698-13_1698-12del
NM_001382391.1(CSPP1):c.1698-1G>C rs2129554176
NM_001382391.1(CSPP1):c.1698-4G>C
NM_001382391.1(CSPP1):c.169C>T (p.Pro57Ser)
NM_001382391.1(CSPP1):c.1703C>A (p.Thr568Lys) rs375847469
NM_001382391.1(CSPP1):c.1704G>T (p.Thr568=)
NM_001382391.1(CSPP1):c.1708G>A (p.Gly570Arg) rs2129554180
NM_001382391.1(CSPP1):c.1710A>G (p.Gly570=)
NM_001382391.1(CSPP1):c.1722G>A (p.Leu574=)
NM_001382391.1(CSPP1):c.1724A>G (p.Lys575Arg)
NM_001382391.1(CSPP1):c.1728T>G (p.Ile576Met) rs2129554181
NM_001382391.1(CSPP1):c.1749T>C (p.Asn583=)
NM_001382391.1(CSPP1):c.1764T>C (p.Phe588=)
NM_001382391.1(CSPP1):c.1767_1769del (p.Glu589del) rs1821332797
NM_001382391.1(CSPP1):c.1771A>C (p.Lys591Gln)
NM_001382391.1(CSPP1):c.1775C>T (p.Pro592Leu)
NM_001382391.1(CSPP1):c.1780C>T (p.Pro594Ser)
NM_001382391.1(CSPP1):c.1784C>A (p.Ser595Tyr)
NM_001382391.1(CSPP1):c.1787_1790del (p.Lys596fs) rs1409618249
NM_001382391.1(CSPP1):c.1801T>C (p.Ser601Pro)
NM_001382391.1(CSPP1):c.1806C>T (p.Tyr602=) rs1036498137
NM_001382391.1(CSPP1):c.1817del (p.Leu606fs) rs1021950925
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter) rs1821344202
NM_001382391.1(CSPP1):c.1827G>A (p.Gln609=)
NM_001382391.1(CSPP1):c.1828-11A>G
NM_001382391.1(CSPP1):c.1828-1G>C
NM_001382391.1(CSPP1):c.1832G>A (p.Arg611Gln) rs771386855
NM_001382391.1(CSPP1):c.1850G>A (p.Arg617Lys)
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs) rs1189289587
NM_001382391.1(CSPP1):c.1857_1860del (p.Lys619fs)
NM_001382391.1(CSPP1):c.1867G>A (p.Glu623Lys)
NM_001382391.1(CSPP1):c.1872A>G (p.Lys624=) rs1822589349
NM_001382391.1(CSPP1):c.1873G>A (p.Glu625Lys) rs2129555264
NM_001382391.1(CSPP1):c.187A>G (p.Arg63Gly) rs767674652
NM_001382391.1(CSPP1):c.188G>C (p.Arg63Thr) rs752873157
NM_001382391.1(CSPP1):c.1897G>C (p.Ala633Pro) rs2129555267
NM_001382391.1(CSPP1):c.18T>A (p.Asp6Glu) rs2129541315
NM_001382391.1(CSPP1):c.1911A>T (p.Thr637=) rs561521861
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp) rs1807963359
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn) rs1822601037
NM_001382391.1(CSPP1):c.1937G>A (p.Gly646Asp) rs923561338
NM_001382391.1(CSPP1):c.1942G>A (p.Ala648Thr)
NM_001382391.1(CSPP1):c.1958C>T (p.Ala653Val)
NM_001382391.1(CSPP1):c.1960A>G (p.Lys654Glu)
NM_001382391.1(CSPP1):c.1967A>G (p.Asn656Ser) rs1822608915
NM_001382391.1(CSPP1):c.1969C>G (p.Leu657Val)
NM_001382391.1(CSPP1):c.1972A>G (p.Ile658Val) rs2129555283
NM_001382391.1(CSPP1):c.1975+18A>C
NM_001382391.1(CSPP1):c.1975+5G>A
NM_001382391.1(CSPP1):c.1975+6T>C
NM_001382391.1(CSPP1):c.1976-20G>A
NM_001382391.1(CSPP1):c.1989G>A (p.Arg663=)
NM_001382391.1(CSPP1):c.199+14T>A rs2129541674
NM_001382391.1(CSPP1):c.1991T>C (p.Met664Thr)
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter) rs1201375699
NM_001382391.1(CSPP1):c.200-13_200-11del rs766452341
NM_001382391.1(CSPP1):c.200-13del
NM_001382391.1(CSPP1):c.200-18_200-16del
NM_001382391.1(CSPP1):c.200-5T>C
NM_001382391.1(CSPP1):c.200-5del
NM_001382391.1(CSPP1):c.200-5dup rs775661180
NM_001382391.1(CSPP1):c.2036C>G (p.Thr679Arg) rs766230896
NM_001382391.1(CSPP1):c.2037A>T (p.Thr679=)
NM_001382391.1(CSPP1):c.2048A>C (p.Lys683Thr) rs1226391179
NM_001382391.1(CSPP1):c.2056G>C (p.Val686Leu) rs761009916
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu) rs764240953
NM_001382391.1(CSPP1):c.2062T>C (p.Ser688Pro)
NM_001382391.1(CSPP1):c.2066T>C (p.Leu689Pro) rs2129558004
NM_001382391.1(CSPP1):c.206A>G (p.Asp69Gly)
NM_001382391.1(CSPP1):c.2082C>T (p.Ala694=)
NM_001382391.1(CSPP1):c.2094T>C (p.Ala698=) rs2129558010
NM_001382391.1(CSPP1):c.2099A>G (p.Asn700Ser) rs2129558011
NM_001382391.1(CSPP1):c.2101C>T (p.Leu701=)
NM_001382391.1(CSPP1):c.2103A>G (p.Leu701=)
NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter) rs1825358020
NM_001382391.1(CSPP1):c.2114C>A (p.Ala705Glu) rs1825359470
NM_001382391.1(CSPP1):c.2121A>G (p.Lys707=) rs1375950004
NM_001382391.1(CSPP1):c.2122A>C (p.Ser708Arg)
NM_001382391.1(CSPP1):c.2124C>T (p.Ser708=)
NM_001382391.1(CSPP1):c.2128+11A>C
NM_001382391.1(CSPP1):c.2128+23_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+24_2128+36del
NM_001382391.1(CSPP1):c.2128+25_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+34_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+35_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+7_2128+25del rs2129558020
NM_001382391.1(CSPP1):c.2129-16A>G rs1826203961
NM_001382391.1(CSPP1):c.2129-2A>G rs2129559034
NM_001382391.1(CSPP1):c.2129-4C>G
NM_001382391.1(CSPP1):c.2129G>T (p.Gly710Val) rs780885390
NM_001382391.1(CSPP1):c.2136G>A (p.Met712Ile)
NM_001382391.1(CSPP1):c.214T>C (p.Leu72=) rs887024306
NM_001382391.1(CSPP1):c.2161C>G (p.Arg721Gly) rs778822396
NM_001382391.1(CSPP1):c.2162G>T (p.Arg721Leu) rs201974031
NM_001382391.1(CSPP1):c.2174T>C (p.Phe725Ser) rs2129559050
NM_001382391.1(CSPP1):c.2183C>G (p.Pro728Arg)
NM_001382391.1(CSPP1):c.2184T>C (p.Pro728=)
NM_001382391.1(CSPP1):c.2188A>G (p.Thr730Ala)
NM_001382391.1(CSPP1):c.2194C>T (p.Leu732Phe) rs2129559060
NM_001382391.1(CSPP1):c.2199G>A (p.Gln733=) rs1826220671
NM_001382391.1(CSPP1):c.2201T>A (p.Ile734Asn)
NM_001382391.1(CSPP1):c.2205del (p.Lys735fs)
NM_001382391.1(CSPP1):c.2206C>A (p.Gln736Lys) rs2129559063
NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)
NM_001382391.1(CSPP1):c.2218T>C (p.Tyr740His)
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) rs1402669959
NM_001382391.1(CSPP1):c.2226T>A (p.Asn742Lys) rs1826224959
NM_001382391.1(CSPP1):c.2234G>C (p.Arg745Pro) rs769971911
NM_001382391.1(CSPP1):c.2240A>T (p.Gln747Leu) rs2129559079
NM_001382391.1(CSPP1):c.2241+15G>A
NM_001382391.1(CSPP1):c.2241+19A>C
NM_001382391.1(CSPP1):c.2241+20_2241+25del rs2129559087
NM_001382391.1(CSPP1):c.2241+9C>G rs1826230466
NM_001382391.1(CSPP1):c.2242-13T>C
NM_001382391.1(CSPP1):c.2242-18_2242-15del rs747115433
NM_001382391.1(CSPP1):c.224C>T (p.Pro75Leu)
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) rs587777145
NM_001382391.1(CSPP1):c.2263G>A (p.Glu755Lys)
NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter)
NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs)
NM_001382391.1(CSPP1):c.2285_2286del (p.Leu762fs) rs1827098991
NM_001382391.1(CSPP1):c.228T>C (p.Leu76=)
NM_001382391.1(CSPP1):c.2295A>G (p.Ala765=)
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs) rs587777140
NM_001382391.1(CSPP1):c.2297A>G (p.Glu766Gly)
NM_001382391.1(CSPP1):c.2301A>G (p.Glu767=) rs2129560136
NM_001382391.1(CSPP1):c.2305GAA[1] (p.Glu770del) rs2129560139
NM_001382391.1(CSPP1):c.2315G>A (p.Arg772Gln)
NM_001382391.1(CSPP1):c.2316G>A (p.Arg772=) rs1827105533
NM_001382391.1(CSPP1):c.2322A>G (p.Ala774=) rs2129560142
NM_001382391.1(CSPP1):c.2323G>C (p.Glu775Gln)
NM_001382391.1(CSPP1):c.2343G>A (p.Gln781=) rs2129560155
NM_001382391.1(CSPP1):c.2346G>A (p.Gln782=) rs754878483
NM_001382391.1(CSPP1):c.236A>T (p.Asp79Val)
NM_001382391.1(CSPP1):c.2370G>T (p.Lys790Asn)
NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs)
NM_001382391.1(CSPP1):c.2373A>G (p.Lys791=)
NM_001382391.1(CSPP1):c.2373_2374del (p.Lys794fs)
NM_001382391.1(CSPP1):c.2377G>C (p.Glu793Gln)
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs) rs1375090095
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs) rs1827118960
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly) rs1827120184
NM_001382391.1(CSPP1):c.2388G>A (p.Glu796=)
NM_001382391.1(CSPP1):c.2391+3A>T rs1338097590
NM_001382391.1(CSPP1):c.2391+4C>T
NM_001382391.1(CSPP1):c.2392-12T>G rs1322610870
NM_001382391.1(CSPP1):c.2392-17_2392-12del rs763447128
NM_001382391.1(CSPP1):c.2392-8T>C
NM_001382391.1(CSPP1):c.2392-8_2392-4del rs528357182
NM_001382391.1(CSPP1):c.2398C>G (p.Leu800Val) rs2129560252
NM_001382391.1(CSPP1):c.239_240del (p.Asp79_Tyr80insTer)
NM_001382391.1(CSPP1):c.2409_2411del (p.Glu804del) rs773946059
NM_001382391.1(CSPP1):c.2411A>C (p.Glu804Ala)
NM_001382391.1(CSPP1):c.2419C>G (p.Arg807Gly)
NM_001382391.1(CSPP1):c.2421G>A (p.Arg807=) rs1209655756
NM_001382391.1(CSPP1):c.2425G>A (p.Ala809Thr) rs1283124706
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs) rs761382780
NM_001382391.1(CSPP1):c.2463_2469del (p.Glu822fs) rs863225191
NM_001382391.1(CSPP1):c.2463_2469dup (p.Glu824fs) rs863225191
NM_001382391.1(CSPP1):c.2464GAA[3] (p.Glu825del) rs750079297
NM_001382391.1(CSPP1):c.2477_2478insT (p.Lys826fs)
NM_001382391.1(CSPP1):c.2481T>C (p.Tyr827=) rs1312436989
NM_001382391.1(CSPP1):c.2491C>T (p.Leu831Phe)
NM_001382391.1(CSPP1):c.2499C>T (p.His833=)
NM_001382391.1(CSPP1):c.2504G>A (p.Cys835Tyr)
NM_001382391.1(CSPP1):c.2514C>G (p.Asp838Glu)
NM_001382391.1(CSPP1):c.2514C>T (p.Asp838=)
NM_001382391.1(CSPP1):c.251A>C (p.Lys84Thr)
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs) rs755739341
NM_001382391.1(CSPP1):c.2523T>C (p.Ile841=)
NM_001382391.1(CSPP1):c.2525G>A (p.Gly842Glu) rs752478502
NM_001382391.1(CSPP1):c.2526G>A (p.Gly842=)
NM_001382391.1(CSPP1):c.2527dup (p.Glu843fs) rs1554604482
NM_001382391.1(CSPP1):c.2529A>G (p.Glu843=)
NM_001382391.1(CSPP1):c.252A>G (p.Lys84=)
NM_001382391.1(CSPP1):c.2530G>A (p.Glu844Lys) rs909732603
NM_001382391.1(CSPP1):c.2530G>C (p.Glu844Gln)
NM_001382391.1(CSPP1):c.2533A>T (p.Thr845Ser) rs1484918109
NM_001382391.1(CSPP1):c.2538+13C>A
NM_001382391.1(CSPP1):c.2538+18A>G
NM_001382391.1(CSPP1):c.2538+19T>C
NM_001382391.1(CSPP1):c.2538+1G>T rs2129560295
NM_001382391.1(CSPP1):c.2538+20G>A
NM_001382391.1(CSPP1):c.2539-13_2539-4del rs753606187
NM_001382391.1(CSPP1):c.2539-18A>G
NM_001382391.1(CSPP1):c.2539-4del rs754861164
NM_001382391.1(CSPP1):c.2539-8T>A
NM_001382391.1(CSPP1):c.2540del (p.His847fs) rs1563720581
NM_001382391.1(CSPP1):c.2542A>G (p.Met848Val)
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs) rs587777143
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs) rs2129561783
NM_001382391.1(CSPP1):c.2557_2559del (p.Pro853del) rs1828417560
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001382391.1(CSPP1):c.2563G>C (p.Val855Leu) rs1828419474
NM_001382391.1(CSPP1):c.2580C>T (p.Asn860=)
NM_001382391.1(CSPP1):c.2584del (p.Ile862fs)
NM_001382391.1(CSPP1):c.2589A>G (p.Ala863=)
NM_001382391.1(CSPP1):c.2594A>G (p.Lys865Arg)
NM_001382391.1(CSPP1):c.2594A>T (p.Lys865Ile) rs1828425319
NM_001382391.1(CSPP1):c.259T>A (p.Leu87Ile) rs2129543528
NM_001382391.1(CSPP1):c.259_263del (p.Leu87fs)
NM_001382391.1(CSPP1):c.2600A>G (p.Gln867Arg)
NM_001382391.1(CSPP1):c.2631T>C (p.Arg877=)
NM_001382391.1(CSPP1):c.2633C>T (p.Ser878Phe) rs2129561809
NM_001382391.1(CSPP1):c.2637T>C (p.Phe879=)
NM_001382391.1(CSPP1):c.263_267del (p.Lys88fs) rs2129543529
NM_001382391.1(CSPP1):c.2641C>G (p.His881Asp) rs1828434498
NM_001382391.1(CSPP1):c.2643+11T>C
NM_001382391.1(CSPP1):c.2643+16T>A
NM_001382391.1(CSPP1):c.2643+4T>C
NM_001382391.1(CSPP1):c.2643+4T>G rs748730202
NM_001382391.1(CSPP1):c.2644-11T>C
NM_001382391.1(CSPP1):c.2644-11T>G
NM_001382391.1(CSPP1):c.2644-12A>G rs2129562431
NM_001382391.1(CSPP1):c.2644-14T>G rs2129562428
NM_001382391.1(CSPP1):c.2644-15A>C
NM_001382391.1(CSPP1):c.2644-18G>C
NM_001382391.1(CSPP1):c.264del (p.Glu89fs)
NM_001382391.1(CSPP1):c.2657C>T (p.Ser886Phe)
NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter)
NM_001382391.1(CSPP1):c.2675C>G (p.Pro892Arg) rs779762140
NM_001382391.1(CSPP1):c.2675C>T (p.Pro892Leu)
NM_001382391.1(CSPP1):c.2685C>G (p.Ala895=) rs2129562477
NM_001382391.1(CSPP1):c.2686A>G (p.Arg896Gly) rs2129562479
NM_001382391.1(CSPP1):c.2687G>A (p.Arg896Lys)
NM_001382391.1(CSPP1):c.2688G>A (p.Arg896=) rs2129562485
NM_001382391.1(CSPP1):c.2692A>C (p.Asn898His) rs1828818248
NM_001382391.1(CSPP1):c.2697G>A (p.Gln899=)
NM_001382391.1(CSPP1):c.2701C>T (p.Arg901Cys) rs757750162
NM_001382391.1(CSPP1):c.2703T>C (p.Arg901=)
NM_001382391.1(CSPP1):c.2711-13T>C
NM_001382391.1(CSPP1):c.271T>A (p.Leu91Met) rs374300498
NM_001382391.1(CSPP1):c.2723A>G (p.Asn908Ser)
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs) rs863225190
NM_001382391.1(CSPP1):c.2735A>G (p.Glu912Gly) rs1586651470
NM_001382391.1(CSPP1):c.2739A>G (p.Leu913=)
NM_001382391.1(CSPP1):c.2740T>C (p.Ser914Pro)
NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter)
NM_001382391.1(CSPP1):c.2741C>T (p.Ser914Leu) rs779579881
NM_001382391.1(CSPP1):c.274C>A (p.Arg92=)
NM_001382391.1(CSPP1):c.274C>T (p.Arg92Trp) rs367889164
NM_001382391.1(CSPP1):c.2753A>G (p.Lys918Arg)
NM_001382391.1(CSPP1):c.275G>A (p.Arg92Gln) rs764280843
NM_001382391.1(CSPP1):c.2761C>T (p.Arg921Cys) rs776600422
NM_001382391.1(CSPP1):c.2763T>C (p.Arg921=) rs2129562840
NM_001382391.1(CSPP1):c.2781A>G (p.Leu927=)
NM_001382391.1(CSPP1):c.2785G>C (p.Glu929Gln)
NM_001382391.1(CSPP1):c.2788C>G (p.Arg930Gly)
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter) rs537456518
NM_001382391.1(CSPP1):c.2791T>C (p.Leu931=)
NM_001382391.1(CSPP1):c.2796A>G (p.Leu932=)
NM_001382391.1(CSPP1):c.280G>A (p.Asp94Asn) rs1182648944
NM_001382391.1(CSPP1):c.2810A>G (p.Asp937Gly)
NM_001382391.1(CSPP1):c.2812G>C (p.Asp938His) rs1402959828
NM_001382391.1(CSPP1):c.2821C>A (p.Pro941Thr)
NM_001382391.1(CSPP1):c.2821C>G (p.Pro941Ala)
NM_001382391.1(CSPP1):c.2824A>G (p.Ile942Val)
NM_001382391.1(CSPP1):c.2828+16C>A rs749065903
NM_001382391.1(CSPP1):c.2828+20T>A rs2129562857
NM_001382391.1(CSPP1):c.2828+2C>T rs1828946939
NM_001382391.1(CSPP1):c.2829-7T>C
NM_001382391.1(CSPP1):c.2829-8A>G
NM_001382391.1(CSPP1):c.2829-9_2968+11del rs1554614893
NM_001382391.1(CSPP1):c.2832A>G (p.Lys944=)
NM_001382391.1(CSPP1):c.2835G>A (p.Lys945=)
NM_001382391.1(CSPP1):c.2855T>C (p.Ile952Thr)
NM_001382391.1(CSPP1):c.2862T>C (p.Asp954=) rs1586718478
NM_001382391.1(CSPP1):c.2869A>G (p.Arg957Gly)
NM_001382391.1(CSPP1):c.2887C>G (p.Pro963Ala) rs770066826
NM_001382391.1(CSPP1):c.2887C>T (p.Pro963Ser) rs770066826
NM_001382391.1(CSPP1):c.2888C>T (p.Pro963Leu) rs781283590
NM_001382391.1(CSPP1):c.2906C>G (p.Pro969Arg) rs1480057271
NM_001382391.1(CSPP1):c.291T>C (p.Arg97=)
NM_001382391.1(CSPP1):c.2939T>G (p.Val980Gly) rs1830675527
NM_001382391.1(CSPP1):c.2943T>C (p.His981=)
NM_001382391.1(CSPP1):c.2967A>G (p.Arg989=) rs2129567311
NM_001382391.1(CSPP1):c.2968+1G>A rs587777142
NM_001382391.1(CSPP1):c.2968+5G>A rs1057524684
NM_001382391.1(CSPP1):c.2968G>A (p.Asp990Asn) rs1830678644
NM_001382391.1(CSPP1):c.2969-19A>G
NM_001382391.1(CSPP1):c.2969-8T>A
NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu) rs993509179
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=) rs1831352053
NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile) rs750443075
NM_001382391.1(CSPP1):c.303+5T>C rs1332818013
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys) rs374717800
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu) rs374717800
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val) rs1831355993
NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn)
NM_001382391.1(CSPP1):c.30A>G (p.Glu10=)
NM_001382391.1(CSPP1):c.30del (p.Glu11fs)
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=)
NM_001382391.1(CSPP1):c.3109+4dup rs2129568589
NM_001382391.1(CSPP1):c.3110-1G>A rs1064795687
NM_001382391.1(CSPP1):c.3110-7A>G rs1832018947
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=)
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=)
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=)
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter) rs200881715
NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln)
NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr)
NM_001382391.1(CSPP1):c.3157-19del rs1446937196
NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn)
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=)
NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn)
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=)
NM_001382391.1(CSPP1):c.3220+13_3220+16del
NM_001382391.1(CSPP1):c.3220+1G>A rs773954226
NM_001382391.1(CSPP1):c.3220+7A>G
NM_001382391.1(CSPP1):c.3220+8T>C
NM_001382391.1(CSPP1):c.3221-10G>A
NM_001382391.1(CSPP1):c.3221-1G>A
NM_001382391.1(CSPP1):c.3221-5C>T
NM_001382391.1(CSPP1):c.3221-9T>A rs753184305
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=)
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) rs587777141
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=) rs1442543547
NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln)
NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn)
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly)
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs)
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=)
NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr)
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=) rs2129575182
NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr)
NM_001382391.1(CSPP1):c.3289G>T (p.Ala1097Ser) rs774501418
NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln)
NM_001382391.1(CSPP1):c.3328A>T (p.Ile1110Phe) rs754193806
NM_001382391.1(CSPP1):c.3330+13C>A
NM_001382391.1(CSPP1):c.3330+13C>T
NM_001382391.1(CSPP1):c.3330+17del
NM_001382391.1(CSPP1):c.3330+19T>A
NM_001382391.1(CSPP1):c.3330+1G>C rs1045070965
NM_001382391.1(CSPP1):c.3330+20C>T
NM_001382391.1(CSPP1):c.3330+2T>C
NM_001382391.1(CSPP1):c.3331-10C>T rs774609234
NM_001382391.1(CSPP1):c.3331-2A>G rs1836992042
NM_001382391.1(CSPP1):c.3331-7A>C rs2129575934
NM_001382391.1(CSPP1):c.3331-8A>G
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His) rs775362535
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=)
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=)
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer) rs1206214608
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=) rs2129575946
NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala)
NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del) rs749558548
NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala)
NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu)
NM_001382391.1(CSPP1):c.33G>A (p.Glu11=) rs1327593032
NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys)
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg) rs546683385
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs) rs2129575958
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer) rs1175214174
NM_001382391.1(CSPP1):c.3415A>G (p.Asn1139Asp) rs1837019445
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=) rs747965774
NM_001382391.1(CSPP1):c.3428T>C (p.Met1143Thr) rs2129575962
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=) rs2129575969
NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro)
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=)
NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His)
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser) rs569956227
NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu)
NM_001382391.1(CSPP1):c.3455A>G (p.Lys1152Arg) rs2129575980
NM_001382391.1(CSPP1):c.3469+10C>T
NM_001382391.1(CSPP1):c.3470-12T>C
NM_001382391.1(CSPP1):c.3470-16C>T
NM_001382391.1(CSPP1):c.3470-20G>A
NM_001382391.1(CSPP1):c.3470-4G>A
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs) rs760082779
NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg)
NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg)
NM_001382391.1(CSPP1):c.3478_3479del (p.Ser1160fs) rs2129576630
NM_001382391.1(CSPP1):c.3487G>A (p.Val1163Ile) rs1414800888
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His) rs1837730212
NM_001382391.1(CSPP1):c.3509_3512dup (p.His1171fs) rs776145236
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=)
NM_001382391.1(CSPP1):c.3518G>C (p.Gly1173Ala) rs1837735009
NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu)
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=)
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=) rs2129576649
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs) rs1563816165
NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu)
NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile)
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=) rs760969187
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=)
NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs)
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=) rs2129576668
NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys)
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His) rs1837760146
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=)
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg) rs1026132903
NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter)
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=)
NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys)
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp)
NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg)
NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs)
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=)
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=)
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=) rs2129576686
NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro)
NM_001382391.1(CSPP1):c.385-12T>A
NM_001382391.1(CSPP1):c.385-16del
NM_001382391.1(CSPP1):c.385-9dup
NM_001382391.1(CSPP1):c.390G>T (p.Arg130Ser)
NM_001382391.1(CSPP1):c.403C>T (p.Arg135Cys)
NM_001382391.1(CSPP1):c.417C>T (p.Tyr139=)
NM_001382391.1(CSPP1):c.419_422del (p.Asn140fs) rs1371078806
NM_001382391.1(CSPP1):c.42C>T (p.Ala14=)
NM_001382391.1(CSPP1):c.430del (p.Arg144fs) rs863225192
NM_001382391.1(CSPP1):c.434G>A (p.Gly145Asp)
NM_001382391.1(CSPP1):c.436A>G (p.Lys146Glu)
NM_001382391.1(CSPP1):c.441A>G (p.Glu147=)
NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter)
NM_001382391.1(CSPP1):c.448A>G (p.Ser150Gly) rs1554569071
NM_001382391.1(CSPP1):c.468G>C (p.Val156=)
NM_001382391.1(CSPP1):c.46T>G (p.Leu16Val) rs150924296
NM_001382391.1(CSPP1):c.475A>G (p.Ser159Gly)
NM_001382391.1(CSPP1):c.483+2T>A
NM_001382391.1(CSPP1):c.483+6T>C
NM_001382391.1(CSPP1):c.486C>A (p.Pro162=)
NM_001382391.1(CSPP1):c.489G>A (p.Lys163=) rs1479574918
NM_001382391.1(CSPP1):c.496A>C (p.Arg166=) rs2129545446
NM_001382391.1(CSPP1):c.508C>G (p.Pro170Ala) rs2129545447
NM_001382391.1(CSPP1):c.513T>A (p.Ile171=) rs1308150996
NM_001382391.1(CSPP1):c.532C>T (p.Leu178=) rs2129545457
NM_001382391.1(CSPP1):c.549G>A (p.Gln183=)
NM_001382391.1(CSPP1):c.554C>G (p.Ser185Cys) rs1477078769
NM_001382391.1(CSPP1):c.572G>A (p.Gly191Asp) rs2129545466
NM_001382391.1(CSPP1):c.577A>G (p.Arg193Gly)
NM_001382391.1(CSPP1):c.579A>G (p.Arg193=)
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln) rs1807446261
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter) rs587777146
NM_001382391.1(CSPP1):c.632G>A (p.Arg211Gln) rs193231165
NM_001382391.1(CSPP1):c.633A>G (p.Arg211=)
NM_001382391.1(CSPP1):c.635T>G (p.Leu212Arg)
NM_001382391.1(CSPP1):c.638A>G (p.Glu213Gly)
NM_001382391.1(CSPP1):c.63A>C (p.Ala21=)
NM_001382391.1(CSPP1):c.663T>G (p.Asp221Glu)
NM_001382391.1(CSPP1):c.672C>T (p.Ile224=)
NM_001382391.1(CSPP1):c.676T>A (p.Leu226Ile)
NM_001382391.1(CSPP1):c.692T>C (p.Ile231Thr)
NM_001382391.1(CSPP1):c.719G>A (p.Gly240Asp)
NM_001382391.1(CSPP1):c.727A>C (p.Asn243His) rs777234205
NM_001382391.1(CSPP1):c.731T>G (p.Leu244Arg) rs2129545496
NM_001382391.1(CSPP1):c.741A>G (p.Gln247=)
NM_001382391.1(CSPP1):c.745T>C (p.Phe249Leu)
NM_001382391.1(CSPP1):c.750A>G (p.Ala250=)
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro) rs771943937
NM_001382391.1(CSPP1):c.761G>A (p.Gly254Asp) rs763959523
NM_001382391.1(CSPP1):c.767C>G (p.Pro256Arg) rs2129545507
NM_001382391.1(CSPP1):c.768A>G (p.Pro256=)
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn) rs750608589
NM_001382391.1(CSPP1):c.769G>T (p.Asp257Tyr) rs750608589
NM_001382391.1(CSPP1):c.789T>C (p.Phe263=) rs2129545515
NM_001382391.1(CSPP1):c.796G>A (p.Asp266Asn)
NM_001382391.1(CSPP1):c.797A>G (p.Asp266Gly) rs1353287068
NM_001382391.1(CSPP1):c.803T>A (p.Val268Asp) rs1812585066
NM_001382391.1(CSPP1):c.809A>T (p.Asp270Val) rs1812585556
NM_001382391.1(CSPP1):c.816G>A (p.Arg272=)
NM_001382391.1(CSPP1):c.816G>T (p.Arg272=)
NM_001382391.1(CSPP1):c.818A>G (p.Tyr273Cys)
NM_001382391.1(CSPP1):c.81A>T (p.Pro27=) rs1271272185
NM_001382391.1(CSPP1):c.843A>C (p.Glu281Asp)
NM_001382391.1(CSPP1):c.844G>T (p.Val282Leu) rs1812594373
NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter)
NM_001382391.1(CSPP1):c.870T>G (p.Phe290Leu) rs1812598635
NM_001382391.1(CSPP1):c.873A>C (p.Arg291Ser)
NM_001382391.1(CSPP1):c.876T>C (p.Tyr292=) rs2129545545
NM_001382391.1(CSPP1):c.881G>C (p.Ser294Thr) rs761539830
NM_001382391.1(CSPP1):c.896G>A (p.Arg299Lys) rs1339310127
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr) rs1807452107
NM_001382391.1(CSPP1):c.8A>C (p.Asp3Ala) rs1585833752
NM_001382391.1(CSPP1):c.903G>A (p.Ser301=)
NM_001382391.1(CSPP1):c.923+1G>C rs863225194
NM_001382391.1(CSPP1):c.923+25_923+29del rs2129545562
NM_001382391.1(CSPP1):c.923G>A (p.Arg308Lys) rs2129545557
NM_001382391.1(CSPP1):c.930C>T (p.His310=)
NM_001382391.1(CSPP1):c.959T>C (p.Met320Thr)
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg) rs1313170509
NM_001382391.1(CSPP1):c.966_967delinsAA (p.His322_Asp323delinsGlnAsn)
NM_001382391.1(CSPP1):c.99+5A>G
NM_001382391.1(CSPP1):c.994A>G (p.Ile332Val) rs1479905045
NM_001384732.1(CPLANE1):c.1122-2A>G
NM_001384732.1(CPLANE1):c.1809_1811delinsCCAT (p.Tyr607fs)
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs) rs926409425
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
NM_001384732.1(CPLANE1):c.3176del (p.Pro1059fs)
NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)
NM_001384732.1(CPLANE1):c.7234-2_7234del
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs) rs775263897
NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)
NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)
NM_003383.5(VLDLR):c.*214C>T rs189180202
NM_003383.5(VLDLR):c.*351C>G rs1818497609
NM_003383.5(VLDLR):c.*45C>T rs920949909
NM_003383.5(VLDLR):c.*517G>C rs886063813
NM_003383.5(VLDLR):c.*98G>A rs543466401
NM_003383.5(VLDLR):c.-113C>G rs34433332
NM_003383.5(VLDLR):c.-302T>C rs1007541973
NM_003383.5(VLDLR):c.-303C>G rs1816795166
NM_003383.5(VLDLR):c.-335C>T rs557105742
NM_003383.5(VLDLR):c.-42GGC[9] rs71329437
NM_003383.5(VLDLR):c.-99C>G rs1816811812
NM_003383.5(VLDLR):c.1124T>G (p.Val375Gly)
NM_003383.5(VLDLR):c.1213A>C (p.Ile405Leu)
NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs) rs398122380
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter) rs80338905
NM_003383.5(VLDLR):c.1374del (p.Glu460fs) rs1586653366
NM_003383.5(VLDLR):c.1452C>A (p.Phe484Leu) rs144724569
NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter)
NM_003383.5(VLDLR):c.1703+10C>G rs372047946
NM_003383.5(VLDLR):c.1724G>A (p.Trp575Ter)
NM_003383.5(VLDLR):c.1961A>G (p.Glu654Gly)
NM_003383.5(VLDLR):c.1962+1G>A rs2130801524
NM_003383.5(VLDLR):c.1962+2T>C rs1563764078
NM_003383.5(VLDLR):c.1971C>T (p.Val657=) rs1039272492
NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe) rs1818184738
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=) rs886063811
NM_003383.5(VLDLR):c.2104G>C (p.Gly702Arg) rs1454735635
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe) rs397514750
NM_003383.5(VLDLR):c.2144G>A (p.Cys715Tyr)
NM_003383.5(VLDLR):c.2168C>T (p.Pro723Leu) rs1818271045
NM_003383.5(VLDLR):c.2252-2A>C
NM_003383.5(VLDLR):c.2339del (p.Ile780fs) rs80338906
NM_003383.5(VLDLR):c.2379A>G (p.Pro793=) rs1300402424
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter) rs2130810631
NM_003383.5(VLDLR):c.2582C>G (p.Pro861Arg)
NM_003383.5(VLDLR):c.262dup (p.Arg88fs) rs2130785730
NM_003383.5(VLDLR):c.263G>A (p.Arg88Gln)
NM_003383.5(VLDLR):c.2T>C (p.Met1Thr) rs797046092
NM_003383.5(VLDLR):c.311G>T (p.Ser104Ile)
NM_003383.5(VLDLR):c.325+1G>A
NM_003383.5(VLDLR):c.325+1del
NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter)
NM_003383.5(VLDLR):c.449-112G>A
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly) rs777739092
NM_003383.5(VLDLR):c.570G>C (p.Pro190=) rs116556362
NM_003383.5(VLDLR):c.711C>G (p.Thr237=) rs781637501
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_003383.5(VLDLR):c.772T>C (p.Cys258Arg)
NM_003383.5(VLDLR):c.820+1G>A
NM_003383.5(VLDLR):c.828A>C (p.Arg276=) rs777520243
NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys) rs886063808
NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala) rs886063809
NM_003383.5(VLDLR):c.901C>T (p.Arg301Ter)
NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro) rs1817930978
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_004056.6(CA8):c.100+1G>A rs1563390893
NM_004056.6(CA8):c.298T>C (p.Ser100Pro) rs267606695
NM_004056.6(CA8):c.475A>T (p.Lys159Ter) rs79267946
NM_004056.6(CA8):c.730dup (p.Gln244fs) rs1807291595
NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp) rs746252249
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs) rs749829859
NM_014704.4(CEP104):c.1232del (p.Gly411fs)
NM_014704.4(CEP104):c.1485+1G>A
NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)
NM_014704.4(CEP104):c.182del (p.Leu61fs)
NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs) rs1189678912
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
NM_014704.4(CEP104):c.928dup (p.Ala310fs)
NM_014714.4(IFT140):c.3141+1G>T rs764770536
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
NM_014714.4(IFT140):c.3454-488_4182+2588dup
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014875.3(KIF14):c.1921dup (p.Ser641fs)
NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)
NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)
NM_014875.3(KIF14):c.8dup (p.Leu3fs)
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) rs753611141
NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)
NM_015160.3(PMPCA):c.1205G>C (p.Arg402Pro) rs769031961
NM_015160.3(PMPCA):c.160C>T (p.Pro54Ser)
NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu) rs869025292
NM_015160.3(PMPCA):c.634-266T>G rs755207442
NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp) rs1057519454
NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)
NM_015160.3(PMPCA):c.71+3G>A
NM_015160.3(PMPCA):c.802C>T (p.Arg268Trp)
NM_015160.3(PMPCA):c.897+6G>A rs150776126
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.100C>G (p.Arg34Gly) rs565245381
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs) rs863225217
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs) rs797045918
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg) rs181526554
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter) rs1555616593
NM_015272.5(RPGRIP1L):c.1243+1G>A rs863225218
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs) rs749987648
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys) rs776941281
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp) rs1967370164
NM_015272.5(RPGRIP1L):c.1499C>A (p.Ala500Glu) rs1029054579
NM_015272.5(RPGRIP1L):c.1505A>T (p.His502Leu) rs976110882
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.1699+14G>T rs188075133
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr) rs2151128525
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs) rs863225216
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) rs1966902456
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys) rs981992752
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=) rs745879566
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=) rs138669723
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) rs267607020
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) rs121918200
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs) rs387906243
NM_015272.5(RPGRIP1L):c.230+14G>A rs1970739259
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter) rs542206983
NM_015272.5(RPGRIP1L):c.2305-1G>A rs863225215
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=) rs1966518935
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=) rs1970448329
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu) rs2151082906
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=) rs1598310040
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter) rs770291169
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs) rs1966218490
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser) rs1966216548
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe) rs576417383
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=) rs2151058712
NM_015272.5(RPGRIP1L):c.2891del (p.Pro964fs)
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.2958+1G>T rs2151056579
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del) rs752076060
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.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3396del (p.Gln1132_Val1133insTer)
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val) rs1436841364
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs) rs1200131247
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015272.5(RPGRIP1L):c.3701+1G>T rs863225219
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs) rs761954313
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr) rs2150909535
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=) rs773361667
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
NM_015272.5(RPGRIP1L):c.529+1688_609del
NM_015272.5(RPGRIP1L):c.530-1G>C rs2151325787
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp) rs987512823
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys) rs376808910
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile) rs1195150584
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=) rs1022259426
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015631.6(TCTN3):c.615del (p.Ser206fs)
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr) rs886039811
NM_016464.5(TMEM138):c.*407G>C rs886048410
NM_016464.5(TMEM138):c.105T>C (p.Pro35=) rs1370730016
NM_016464.5(TMEM138):c.128+19T>G
NM_016464.5(TMEM138):c.129-10A>G
NM_016464.5(TMEM138):c.129-10dup rs2135157730
NM_016464.5(TMEM138):c.129-11dup
NM_016464.5(TMEM138):c.129-19C>G rs2135157682
NM_016464.5(TMEM138):c.129-19C>T rs2135157682
NM_016464.5(TMEM138):c.129-3C>T
NM_016464.5(TMEM138):c.12C>T (p.Thr4=) rs376500080
NM_016464.5(TMEM138):c.13A>G (p.Ser5Gly) rs1858060748
NM_016464.5(TMEM138):c.166A>G (p.Ile56Val)
NM_016464.5(TMEM138):c.176T>G (p.Met59Arg)
NM_016464.5(TMEM138):c.195C>T (p.Val65=) rs2135158008
NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu) rs1858140604
NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu)
NM_016464.5(TMEM138):c.204T>C (p.Ala68=) rs2135158047
NM_016464.5(TMEM138):c.207C>T (p.Gly69=)
NM_016464.5(TMEM138):c.209T>A (p.Leu70Gln) rs2135158062
NM_016464.5(TMEM138):c.217C>T (p.Leu73Phe) rs1858141854
NM_016464.5(TMEM138):c.227A>G (p.His76Arg) rs1411782602
NM_016464.5(TMEM138):c.230A>T (p.Lys77Met)
NM_016464.5(TMEM138):c.231G>A (p.Lys77=) rs2135158146
NM_016464.5(TMEM138):c.24C>T (p.Ser8=)
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg) rs1858145836
NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys) rs2135158354
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.288T>C (p.His96=)
NM_016464.5(TMEM138):c.300+13G>A rs2135158448
NM_016464.5(TMEM138):c.301-12C>T
NM_016464.5(TMEM138):c.301-13A>G
NM_016464.5(TMEM138):c.301-16C>T
NM_016464.5(TMEM138):c.301-18A>G
NM_016464.5(TMEM138):c.303C>T (p.Asn101=) rs2135162983
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs) rs771224190
NM_016464.5(TMEM138):c.306dup (p.Arg103fs)
NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly)
NM_016464.5(TMEM138):c.307del (p.Arg103fs)
NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)
NM_016464.5(TMEM138):c.311G>T (p.Trp104Leu) rs2135163033
NM_016464.5(TMEM138):c.317A>T (p.Asn106Ile) rs932618021
NM_016464.5(TMEM138):c.322A>G (p.Asn108Asp)
NM_016464.5(TMEM138):c.359T>A (p.Phe120Tyr)
NM_016464.5(TMEM138):c.35C>A (p.Ser12Tyr) rs1350244778
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr) rs387907134
NM_016464.5(TMEM138):c.377-11C>T rs749034092
NM_016464.5(TMEM138):c.377-19T>C
NM_016464.5(TMEM138):c.377-3C>G rs774110963
NM_016464.5(TMEM138):c.377C>T (p.Ala126Val) rs1045760713
NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser) rs1349854928
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_016464.5(TMEM138):c.384G>A (p.Val128=)
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016464.5(TMEM138):c.401A>G (p.Tyr134Cys)
NM_016464.5(TMEM138):c.415G>A (p.Val139Ile) rs141029883
NM_016464.5(TMEM138):c.430_439del (p.Pro144fs)
NM_016464.5(TMEM138):c.431C>T (p.Pro144Leu) rs2135165565
NM_016464.5(TMEM138):c.435C>T (p.His145=)
NM_016464.5(TMEM138):c.448T>A (p.Ser150Thr)
NM_016464.5(TMEM138):c.449C>G (p.Ser150Cys)
NM_016464.5(TMEM138):c.451_452del (p.Leu151fs) rs890070939
NM_016464.5(TMEM138):c.454T>A (p.Trp152Arg)
NM_016464.5(TMEM138):c.459G>A (p.Leu153=)
NM_016464.5(TMEM138):c.45C>T (p.Phe15=)
NM_016464.5(TMEM138):c.460C>T (p.Arg154Cys)
NM_016464.5(TMEM138):c.481C>T (p.Arg161Ter) rs1000923142
NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys) rs1565076874
NM_016464.5(TMEM138):c.76T>G (p.Ser26Ala)
NM_016464.5(TMEM138):c.80T>C (p.Phe27Ser)
NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer) rs2135153244
NM_016529.6(ATP8A2):c.-1016T>A
NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met) rs546968533
NM_016529.6(ATP8A2):c.1272T>G (p.Tyr424Ter)
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val) rs2039065206
NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)
NM_016529.6(ATP8A2):c.1339G>A (p.Gly447Arg)
NM_016529.6(ATP8A2):c.1474-2del rs2138177530
NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)
NM_016529.6(ATP8A2):c.1580-18C>G
NM_016529.6(ATP8A2):c.1669C>T (p.Gln557Ter)
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_016529.6(ATP8A2):c.1868-2A>G rs2039720333
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) rs1593576872
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)
NM_016529.6(ATP8A2):c.210del (p.Asp70fs) rs2035763126
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) rs1566306570
NM_016529.6(ATP8A2):c.2212-1G>C rs2137911082
NM_016529.6(ATP8A2):c.2293G>T (p.Asp765Tyr) rs1064793377
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro) rs764092726
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His) rs796952533
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs) rs1593326999
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) rs1593410369
NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
NM_016529.6(ATP8A2):c.3183+1G>A rs1952385477
NM_016529.6(ATP8A2):c.3273-3C>G rs748588986
NM_016529.6(ATP8A2):c.3334C>T (p.Arg1112Ter) rs267603791
NM_016529.6(ATP8A2):c.3469+1G>C rs763272441
NM_016529.6(ATP8A2):c.518del (p.Gly173fs) rs2038343394
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs) rs2038491713
NM_016529.6(ATP8A2):c.709del (p.Thr237fs) rs2137994737
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys) rs200449118
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.[2561G>T];[3368C>T]
NM_017777.3(MKS1):c.-34_-12del rs1244307754
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del) rs1555598065
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del) rs1555597302
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal) rs1555597266
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT rs1555597194
NM_017777.4(MKS1):c.1408-2A>G rs1555596943
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter) rs2143737457
NM_017777.4(MKS1):c.1491-2A>G rs886038203
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs) rs1555596710
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_017777.4(MKS1):c.1588+12C>G rs762501967
NM_017777.4(MKS1):c.1588+1G>T rs886038204
NM_017777.4(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.4(MKS1):c.1614del (p.Met539fs) rs1555596555
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter) rs1555596538
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.1A>G (p.Met1Val) rs1555601787
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
NM_017777.4(MKS1):c.367dup (p.Arg123fs) rs775043799
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
NM_017777.4(MKS1):c.418-79G>T
NM_017777.4(MKS1):c.435del (p.Thr146fs)
NM_017777.4(MKS1):c.515+2T>G rs1376664664
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter) rs2143800757
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_017777.4(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
NM_017777.4(MKS1):c.80+14C>G rs761061379
NM_017777.4(MKS1):c.80+2T>C rs386834052
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup) rs780100856
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
NM_017777.4(MKS1):c.955G>A (p.Val319Ile) rs1393510784
NM_017777.4(MKS1):c.959-5C>A rs765242131
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
NM_018294.6(CWF19L1):c.1045-2A>C
NM_018294.6(CWF19L1):c.1045T>G (p.Cys349Gly) rs1846515941
NM_018294.6(CWF19L1):c.1070G>T (p.Gly357Val)
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter) rs1846512047
NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter) rs1554902760
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs) rs1589611043
NM_018294.6(CWF19L1):c.1375-2A>G
NM_018294.6(CWF19L1):c.1394C>T (p.Ala465Val)
NM_018294.6(CWF19L1):c.1523G>A (p.Trp508Ter) rs2134268636
NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del) rs746710766
NM_018294.6(CWF19L1):c.1568G>A (p.Arg523His)
NM_018294.6(CWF19L1):c.187+1G>T rs1330992740
NM_018294.6(CWF19L1):c.452T>G (p.Ile151Ser)
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter) rs2134307362
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter) rs1589625941
NM_018294.6(CWF19L1):c.708+294_1044+1540del
NM_018294.6(CWF19L1):c.820dup (p.Ser274fs)
NM_018294.6(CWF19L1):c.942del (p.Pro315fs) rs749679347
NM_018294.6(CWF19L1):c.946A>T (p.Lys316Ter) rs879255653
NM_018718.3(CEP41):c.*1191G>A rs781848072
NM_018718.3(CEP41):c.*1768G>T rs552499760
NM_018718.3(CEP41):c.*2194C>T rs886061994
NM_018718.3(CEP41):c.*2196T>C rs574519929
NM_018718.3(CEP41):c.*2386A>G rs886061993
NM_018718.3(CEP41):c.*2725C>T rs1796651983
NM_018718.3(CEP41):c.*287C>T rs1796743356
NM_018718.3(CEP41):c.*3069T>C rs886061990
NM_018718.3(CEP41):c.*3708A>T rs576298616
NM_018718.3(CEP41):c.*4343C>G rs1554413758
NM_018718.3(CEP41):c.*4365G>A rs535299613
NM_018718.3(CEP41):c.*4539C>T rs1796601439
NM_018718.3(CEP41):c.*4659C>G rs886061986
NM_018718.3(CEP41):c.*4866C>T rs782719539
NM_018718.3(CEP41):c.-41C>T rs886062002
NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp) rs1554416156
NM_018718.3(CEP41):c.102C>T (p.Asn34=) rs781793746
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr) rs184146463
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser) rs184146463
NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp) rs2117546322
NM_018718.3(CEP41):c.1062C>T (p.Ala354=) rs782552317
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro) rs781878740
NM_018718.3(CEP41):c.1080C>T (p.Arg360=) rs782746850
NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup) rs1796754986
NM_018718.3(CEP41):c.108G>T (p.Met36Ile)
NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser) rs782211413
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu) rs1797355895
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
NM_018718.3(CEP41):c.145+16G>C
NM_018718.3(CEP41):c.145+16G>T rs2117627031
NM_018718.3(CEP41):c.145+7A>G
NM_018718.3(CEP41):c.146-13C>T rs782677555
NM_018718.3(CEP41):c.146-9A>G rs372039618
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg) rs1797203213
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
NM_018718.3(CEP41):c.208-5A>T
NM_018718.3(CEP41):c.208-6T>C
NM_018718.3(CEP41):c.208-7C>G rs782769113
NM_018718.3(CEP41):c.208-7C>T rs782769113
NM_018718.3(CEP41):c.208A>G (p.Ile70Val)
NM_018718.3(CEP41):c.226C>G (p.Leu76Val) rs1797171250
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys) rs1797171055
NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro) rs946180222
NM_018718.3(CEP41):c.258G>A (p.Glu86=) rs1309424611
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
NM_018718.3(CEP41):c.277+10del rs782128369
NM_018718.3(CEP41):c.277+17G>A
NM_018718.3(CEP41):c.277G>C (p.Asp93His) rs1797169504
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.278-9A>C
NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)
NM_018718.3(CEP41):c.287C>G (p.Ser96Cys) rs2117574982
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr) rs149373377
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala) rs149373377
NM_018718.3(CEP41):c.298G>A (p.Asp100Asn) rs150251054
NM_018718.3(CEP41):c.298G>C (p.Asp100His)
NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
NM_018718.3(CEP41):c.320C>T (p.Ala107Val) rs141025803
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
NM_018718.3(CEP41):c.33+10A>G
NM_018718.3(CEP41):c.33+16C>T
NM_018718.3(CEP41):c.33+20C>A
NM_018718.3(CEP41):c.33+2T>G rs1584916464
NM_018718.3(CEP41):c.33+6G>A rs1798137622
NM_018718.3(CEP41):c.33G>A (p.Glu11=) rs2117739865
NM_018718.3(CEP41):c.34-14del
NM_018718.3(CEP41):c.34-17A>G
NM_018718.3(CEP41):c.34-2A>G rs1797714974
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg) rs782235279
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
NM_018718.3(CEP41):c.362G>C (p.Ser121Thr) rs782508627
NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)
NM_018718.3(CEP41):c.367G>C (p.Glu123Gln) rs782614895
NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser) rs782436531
NM_018718.3(CEP41):c.411A>G (p.Ser137=) rs1796949890
NM_018718.3(CEP41):c.422+5T>C
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.423-2A>G rs781815473
NM_018718.3(CEP41):c.423-4G>T rs1554417330
NM_018718.3(CEP41):c.423-9C>G
NM_018718.3(CEP41):c.423T>C (p.Ser141=)
NM_018718.3(CEP41):c.428T>A (p.Ile143Asn) rs782614635
NM_018718.3(CEP41):c.42G>T (p.Met14Ile) rs1797714880
NM_018718.3(CEP41):c.437T>C (p.Val146Ala) rs1170058733
NM_018718.3(CEP41):c.438T>G (p.Val146=)
NM_018718.3(CEP41):c.468G>A (p.Val156=) rs1796891578
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.477del (p.Glu160fs)
NM_018718.3(CEP41):c.488C>T (p.Thr163Ile) rs2117565108
NM_018718.3(CEP41):c.499C>T (p.Pro167Ser) rs1796890244
NM_018718.3(CEP41):c.513C>T (p.Cys171=) rs922629262
NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)
NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu) rs782587361
NM_018718.3(CEP41):c.568G>T (p.Val190Phe)
NM_018718.3(CEP41):c.574+7G>C
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.575-19C>T
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser) rs201818904
NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)
NM_018718.3(CEP41):c.595A>G (p.Thr199Ala) rs1796855782
NM_018718.3(CEP41):c.610A>G (p.Met204Val) rs782188831
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe) rs1796853863
NM_018718.3(CEP41):c.642+5C>T rs2117560304
NM_018718.3(CEP41):c.642T>C (p.Tyr214=) rs1796853773
NM_018718.3(CEP41):c.643-16del rs2117556026
NM_018718.3(CEP41):c.643-7C>G
NM_018718.3(CEP41):c.643-9del
NM_018718.3(CEP41):c.653A>G (p.His218Arg) rs527896814
NM_018718.3(CEP41):c.659A>G (p.Lys220Arg) rs1472855500
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)
NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly) rs1796819026
NM_018718.3(CEP41):c.703G>A (p.Ala235Thr) rs2117555473
NM_018718.3(CEP41):c.705G>T (p.Ala235=) rs149052906
NM_018718.3(CEP41):c.717G>T (p.Met239Ile) rs2117555395
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
NM_018718.3(CEP41):c.757+16C>T
NM_018718.3(CEP41):c.757+2T>A
NM_018718.3(CEP41):c.757+5G>A rs909436822
NM_018718.3(CEP41):c.758-14dup rs1156468685
NM_018718.3(CEP41):c.769T>G (p.Leu257Val) rs2117552967
NM_018718.3(CEP41):c.773C>T (p.Ala258Val) rs1050700461
NM_018718.3(CEP41):c.798T>G (p.Ile266Met) rs2117552869
NM_018718.3(CEP41):c.7del (p.Leu3fs) rs1798139951
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile) rs2117552856
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
NM_018718.3(CEP41):c.831C>T (p.Ala277=) rs782120276
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter) rs1584901211
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018718.3(CEP41):c.867C>T (p.Pro289=) rs782385841
NM_018718.3(CEP41):c.880del (p.Leu294fs)
NM_018718.3(CEP41):c.893A>G (p.Asn298Ser) rs2117552201
NM_018718.3(CEP41):c.928A>G (p.Ile310Val) rs1308536722
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs) rs782610112
NM_018718.3(CEP41):c.953A>C (p.Gln318Pro) rs2117551648
NM_018718.3(CEP41):c.954A>G (p.Gln318=) rs2117551629
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
NM_018718.3(CEP41):c.97+12T>G
NM_018718.3(CEP41):c.97+3_97+5del rs2117674119
NM_018718.3(CEP41):c.973+16C>A rs2117551370
NM_018718.3(CEP41):c.973+404_1077del rs1796755672
NM_018718.3(CEP41):c.973+8del rs2117551461
NM_018718.3(CEP41):c.974-11G>T
NM_018718.3(CEP41):c.974-14C>T
NM_018718.3(CEP41):c.974-19TCTT[3]
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln) rs782387467
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu) rs782387467
NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)
NM_018718.3(CEP41):c.98-20A>G
NM_018718.3(CEP41):c.98-2A>G
NM_018718.3(CEP41):c.98-8C>A rs782606521
NM_018718.3(CEP41):c.98-8C>T
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro) rs1796760925
NM_018718.3(CEP41):c.999C>T (p.Ser333=)
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1224del (p.Ile409fs) rs2131608743
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter) rs2131605715
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
NM_019892.6(INPP5E):c.473del (p.Gly158fs) rs779450345
NM_024790.6(CSPP1):c.-14_1del (p.Met1del)
NM_024809.5(TCTN2):c.1550dup (p.His517fs)
NM_024809.5(TCTN2):c.1806dup (p.Thr603fs)
NM_025114.4(CEP290):c.-118C>G rs886049887
NM_025114.4(CEP290):c.-208C>T rs551070690
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.103-1G>T rs863225188
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1189+1G>A rs2039659434
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1310del (p.Lys437fs) rs2137917381
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs) rs886043303
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.1623+10G>A rs377529198
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1623+1G>A rs863225186
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val) rs1459958084
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2112del (p.Val705fs) rs863225183
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu) rs1193394531
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer) rs2137710225
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
NM_025114.4(CEP290):c.2317dup (p.Ser773fs) rs1555218898
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) rs955251811
NM_025114.4(CEP290):c.2483+5A>G rs2137661741
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser) rs1443848622
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile) rs2038007630
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys) rs1039332206
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala) rs898733071
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val) rs2037238288
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3176del (p.Ile1059fs) rs863225184
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp) rs372918770
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del) rs749010290
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro) rs2137303851
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln) rs1466311097
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.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met) rs375065584
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala) rs2040372439
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe) rs2036834615
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu) rs2137270029
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4045_4046del (p.Met1349fs) rs2036720274
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=) rs1006145739
NM_025114.4(CEP290):c.4102G>C (p.Asp1368His) rs184143186
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs) rs1555208870
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg) rs1157241942
NM_025114.4(CEP290):c.4384del (p.Glu1462fs) rs863225182
NM_025114.4(CEP290):c.442-23_442-20del rs746139755
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.4599C>T (p.His1533=) rs932264519
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4656del (p.Glu1553fs) rs62640572
NM_025114.4(CEP290):c.4705-7A>G rs1367159797
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys) rs1292516576
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter) rs1292516576
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter) rs886039808
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
NM_025114.4(CEP290):c.5013-30CA[5] rs759447937
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His) rs1173154577
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.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
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.5512dup (p.Arg1838fs) rs1565822519
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5587-8T>C rs886049878
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter) rs1592784618
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp) rs2136964084
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=) rs764861728
NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter) rs779262951
NM_025114.4(CEP290):c.6135+10T>C rs371097588
NM_025114.4(CEP290):c.6135+1G>A rs2035114607
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile) rs2034578914
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp) rs191613017
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6523-17_6523-15del rs751359519
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile) rs2034338160
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile) rs1480802620
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys) rs2034330893
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val) rs2034240720
NM_025114.4(CEP290):c.670-13_670-12del rs941686794
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val) rs2033943524
NM_025114.4(CEP290):c.6869del (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter) rs863225187
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549
NM_025114.4(CEP290):c.7129+8A>G rs2136623486
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu) rs1478582091
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter) rs2136546576
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) rs768777116
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_025114.4(CEP290):c.942+6T>G rs886049884
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.99C>T (p.Ser33=) rs866917306
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)
NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) rs750436680
NM_032856.5(WDR73):c.1039C>T (p.His347Tyr) rs754099015
NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs) rs768820873
NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter)
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys) rs376622127
NM_032856.5(WDR73):c.1132dup (p.Arg378fs) rs747109506
NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter) rs727502863
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.293T>C (p.Leu98Pro) rs863223396
NM_032856.5(WDR73):c.346G>A (p.Asp116Asn)
NM_032856.5(WDR73):c.400_401del (p.Trp136fs) rs767086146
NM_032856.5(WDR73):c.41+1G>C
NM_032856.5(WDR73):c.525_565dup (p.Asp189delinsValThrValArgSerTer) rs2141837067
NM_032856.5(WDR73):c.602G>A (p.Gly201Glu) rs2141836997
NM_032856.5(WDR73):c.627G>C (p.Trp209Cys)
NM_032856.5(WDR73):c.643C>T (p.Arg215Cys)
NM_032856.5(WDR73):c.647G>A (p.Ser216Asn)
NM_032856.5(WDR73):c.68T>A (p.Leu23Gln) rs797044993
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) rs1596050297
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153
NM_032856.5(WDR73):c.745C>T (p.Arg249Cys)
NM_032856.5(WDR73):c.766C>T (p.Arg256Trp) rs1261931467
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln) rs866551482
NM_032856.5(WDR73):c.875C>T (p.Ala292Val)
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) rs1596048227
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1]) rs11267906
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3]) rs11267906
NM_032856.5(WDR73):c.928G>T (p.Gly310Ter) rs201608269
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) rs797044994
NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del) rs750338466
NM_033064.4(ATCAY):c.-375G>T rs886054373
NM_033064.4(ATCAY):c.-424delC rs564678183
NM_033064.5(ATCAY):c.*1051T>C rs1599152069
NM_033064.5(ATCAY):c.*1188G>T rs886054420
NM_033064.5(ATCAY):c.*1322T>G rs960684972
NM_033064.5(ATCAY):c.*143G>A rs537298270
NM_033064.5(ATCAY):c.*1540C>A rs140917952
NM_033064.5(ATCAY):c.*1660T>G rs1463951003
NM_033064.5(ATCAY):c.*192_*193del rs796133913
NM_033064.5(ATCAY):c.*193del rs796133913
NM_033064.5(ATCAY):c.*1978G>A rs918032296
NM_033064.5(ATCAY):c.*2297C>A rs886054424
NM_033064.5(ATCAY):c.*2357G>C rs551091925
NM_033064.5(ATCAY):c.*2426C>T rs886054426
NM_033064.5(ATCAY):c.*2497C>T rs143923838
NM_033064.5(ATCAY):c.*266C>T rs867087852
NM_033064.5(ATCAY):c.*3202G>A rs1293185068
NM_033064.5(ATCAY):c.*3319C>T rs2039082103
NM_033064.5(ATCAY):c.*391C>A rs765579267
NM_033064.5(ATCAY):c.*391C>T rs765579267
NM_033064.5(ATCAY):c.*430G>T rs866573378
NM_033064.5(ATCAY):c.*441G>A rs117035326
NM_033064.5(ATCAY):c.*441G>C rs117035326
NM_033064.5(ATCAY):c.*496C>A rs886054417
NM_033064.5(ATCAY):c.*599T>C rs571828838
NM_033064.5(ATCAY):c.*608G>C rs926357788
NM_033064.5(ATCAY):c.*758C>T rs116954582
NM_033064.5(ATCAY):c.*813G>C rs886054418
NM_033064.5(ATCAY):c.-41-1022G>A
NM_033064.5(ATCAY):c.1043A>G (p.Glu348Gly)
NM_033064.5(ATCAY):c.162C>T (p.Asn54=) rs373392142
NM_033064.5(ATCAY):c.544+16dup rs140914543
NM_033064.5(ATCAY):c.545-65T>C rs3810373
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
NM_033064.5(ATCAY):c.555C>A (p.Gly185=) rs367736161
NM_033064.5(ATCAY):c.602_608del (p.Asp201fs) rs2145248615
NM_033064.5(ATCAY):c.647+15G>A rs117167523
NM_033064.5(ATCAY):c.647+15G>C rs117167523
NM_033064.5(ATCAY):c.678G>A (p.Val226=) rs886054415
NM_033064.5(ATCAY):c.721C>T (p.Arg241Trp) rs2038904766
NM_033064.5(ATCAY):c.[903C>G;965+3G>T]
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu) rs1575477812
NM_033402.5(LRRCC1):c.105-1G>C rs886039794
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.187_194del (p.Gly63fs) rs2108007892
NM_153240.5(NPHP3):c.1888-7_1893del rs1553773296
NM_153240.5(NPHP3):c.52del (p.Asp18fs) rs2108008280
NM_153704.6(TMEM67):c.1132-2A>G
NM_153704.6(TMEM67):c.114del (p.Phe39fs)
NM_153704.6(TMEM67):c.1288+15C>T rs1057523004
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln) rs199708882
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu) rs1486419446
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1675-10dup rs752404927
NM_153704.6(TMEM67):c.1847C>A (p.Ala616Asp)
NM_153704.6(TMEM67):c.1961-2A>C rs758948621
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
NM_153704.6(TMEM67):c.223+1G>C
NM_153704.6(TMEM67):c.232T>G (p.Cys78Gly)
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr) rs2130780313
NM_153704.6(TMEM67):c.2556+1G>T rs786200867
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln) rs886039810
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val) rs758638902
NM_153704.6(TMEM67):c.313-13dup rs367575555
NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter) rs1554615516
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg) rs143495661
Single allele

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