NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr)
|
rs72657309
|
0.00171
|
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)
|
rs202196322
|
0.00156
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu)
|
rs146264035
|
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_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr)
|
rs146847253
|
0.00126
|
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)
|
rs145374149
|
0.00124
|
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)
|
rs114250691
|
0.00121
|
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)
|
rs138744839
|
0.00115
|
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)
|
rs201065230
|
0.00109
|
NM_001195305.3(BBIP1):c.137T>C (p.Met46Thr)
|
rs11548767
|
0.00103
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
0.00102
|
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg)
|
rs112206586
|
0.00102
|
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)
|
rs150070966
|
0.00094
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)
|
rs79524027
|
0.00092
|
NM_017950.4(CCDC40):c.1562+2018C>T
|
rs562415439
|
0.00092
|
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)
|
rs200190291
|
0.00090
|
NM_018076.5(ODAD2):c.1709G>A (p.Arg570Gln)
|
rs140569195
|
0.00088
|
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile)
|
rs189100009
|
0.00087
|
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)
|
rs143113298
|
0.00086
|
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe)
|
rs150314805
|
0.00084
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_018076.5(ODAD2):c.2935G>A (p.Val979Met)
|
rs150655393
|
0.00083
|
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)
|
rs150887098
|
0.00081
|
NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)
|
rs200673226
|
0.00080
|
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln)
|
rs200276831
|
0.00076
|
NM_130810.4(DNAAF4):c.4C>T (p.Pro2Ser)
|
rs143493699
|
0.00075
|
NM_031924.8(RSPH3):c.-384C>T
|
rs140715430
|
0.00074
|
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)
|
rs200427832
|
0.00073
|
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)
|
rs199605221
|
0.00071
|
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu)
|
rs188817098
|
0.00071
|
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met)
|
rs202148932
|
0.00069
|
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)
|
rs201816596
|
0.00068
|
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr)
|
rs41280798
|
0.00068
|
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln)
|
rs146332658
|
0.00068
|
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00067
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00067
|
NM_014956.5(CEP164):c.548T>A (p.Met183Lys)
|
rs144206271
|
0.00067
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
NM_017802.4(DNAAF5):c.781G>A (p.Val261Ile)
|
rs138915052
|
0.00063
|
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)
|
rs146320075
|
0.00063
|
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile)
|
rs751346260
|
0.00062
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)
|
rs151212590
|
0.00060
|
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
0.00059
|
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys)
|
rs145400611
|
0.00058
|
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)
|
rs138434761
|
0.00058
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)
|
rs150093365
|
0.00057
|
NM_001384732.1(CPLANE1):c.2855A>G (p.Asn952Ser)
|
rs554483416
|
0.00057
|
NM_147127.5(EVC2):c.2060G>A (p.Arg687His)
|
rs144420242
|
0.00054
|
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
|
rs762918371
|
0.00052
|
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile)
|
rs143020939
|
0.00052
|
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly)
|
rs143210369
|
0.00052
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)
|
rs188891842
|
0.00051
|
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)
|
rs139229844
|
0.00049
|
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe)
|
rs142038791
|
0.00049
|
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)
|
rs370932895
|
0.00048
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn)
|
rs141690214
|
0.00048
|
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly)
|
rs144938800
|
0.00048
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
0.00048
|
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser)
|
rs141240501
|
0.00048
|
NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala)
|
rs141807661
|
0.00046
|
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu)
|
rs147426388
|
0.00046
|
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu)
|
rs145425340
|
0.00046
|
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)
|
rs199917289
|
0.00045
|
NM_014956.5(CEP164):c.2662C>G (p.Leu888Val)
|
rs142044303
|
0.00045
|
NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser)
|
rs185664269
|
0.00044
|
NM_017950.4(CCDC40):c.552G>A (p.Leu184=)
|
rs141588728
|
0.00044
|
NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile)
|
rs374351807
|
0.00043
|
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)
|
rs113216558
|
0.00043
|
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val)
|
rs199637319
|
0.00043
|
NM_014956.5(CEP164):c.2339C>T (p.Ser780Leu)
|
rs138384561
|
0.00042
|
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)
|
rs144023021
|
0.00042
|
NM_017777.4(MKS1):c.118C>T (p.His40Tyr)
|
rs199832333
|
0.00042
|
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)
|
rs202111717
|
0.00041
|
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)
|
rs141440865
|
0.00041
|
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)
|
rs200185068
|
0.00041
|
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser)
|
rs148222901
|
0.00041
|
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)
|
rs200897773
|
0.00040
|
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala)
|
rs201804994
|
0.00039
|
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)
|
rs199695154
|
0.00039
|
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile)
|
rs201877419
|
0.00039
|
NM_017802.4(DNAAF5):c.1208G>A (p.Arg403Gln)
|
rs149778130
|
0.00039
|
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser)
|
rs878855039
|
0.00039
|
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln)
|
rs150370681
|
0.00039
|
NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe)
|
rs146580215
|
0.00036
|
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)
|
rs200075429
|
0.00036
|
NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly)
|
rs116198390
|
0.00036
|
NM_012472.6(DNAAF11):c.1096A>G (p.Lys366Glu)
|
rs201309011
|
0.00036
|
NM_015102.5(NPHP4):c.3161G>A (p.Arg1054His)
|
rs369950850
|
0.00036
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)
|
rs144989330
|
0.00036
|
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu)
|
rs201194631
|
0.00034
|
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu)
|
rs201779243
|
0.00034
|
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp)
|
rs200407553
|
0.00034
|
NM_024685.4(BBS10):c.752C>T (p.Ala251Val)
|
rs149760791
|
0.00034
|
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu)
|
rs34925776
|
0.00034
|
NM_213607.3(CCDC103):c.104G>A (p.Arg35Gln)
|
rs587783065
|
0.00034
|
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro)
|
rs185469456
|
0.00033
|
NM_015102.5(NPHP4):c.2714G>A (p.Ser905Asn)
|
rs368298952
|
0.00033
|
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)
|
rs143863631
|
0.00033
|
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)
|
rs373726507
|
0.00033
|
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)
|
rs200568988
|
0.00032
|
NM_012472.6(DNAAF11):c.32G>A (p.Arg11Gln)
|
rs149894438
|
0.00032
|
NM_014956.5(CEP164):c.1792G>A (p.Ala598Thr)
|
rs150956860
|
0.00032
|
NM_178452.6(DNAAF1):c.1187G>T (p.Gly396Val)
|
rs149958269
|
0.00032
|
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser)
|
rs201586263
|
0.00032
|
NM_001174150.2(ARL13B):c.106G>A (p.Ala36Thr)
|
rs139780924
|
0.00031
|
NM_015102.5(NPHP4):c.3110A>C (p.Glu1037Ala)
|
rs200310448
|
0.00031
|
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu)
|
rs151203205
|
0.00031
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_080860.4(RSPH1):c.727A>G (p.Ser243Gly)
|
rs137935071
|
0.00031
|
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)
|
rs147366111
|
0.00030
|
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)
|
rs145541911
|
0.00030
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys)
|
rs199783864
|
0.00030
|
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr)
|
rs148808295
|
0.00030
|
NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala)
|
rs201580075
|
0.00029
|
NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val)
|
rs141845729
|
0.00029
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
NM_031885.5(BBS2):c.-2T>G
|
rs111296910
|
0.00029
|
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)
|
rs150706579
|
0.00029
|
NM_033124.5(CCDC65):c.326C>T (p.Ala109Val)
|
rs139828323
|
0.00029
|
NM_145038.5(DRC1):c.1418C>T (p.Ala473Val)
|
rs199574440
|
0.00029
|
NM_145045.5(ODAD3):c.707A>G (p.Tyr236Cys)
|
rs200305902
|
0.00029
|
NM_015102.5(NPHP4):c.1286G>C (p.Ser429Thr)
|
rs202199543
|
0.00028
|
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val)
|
rs144492051
|
0.00028
|
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu)
|
rs201998215
|
0.00027
|
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala)
|
rs200670161
|
0.00027
|
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp)
|
rs377130177
|
0.00026
|
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr)
|
rs369682692
|
0.00026
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr)
|
rs148663745
|
0.00026
|
NM_015102.5(NPHP4):c.3385G>A (p.Val1129Met)
|
rs372934556
|
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_015512.5(DNAH1):c.9638A>G (p.Asn3213Ser)
|
rs199560640
|
0.00026
|
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)
|
rs367930028
|
0.00026
|
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys)
|
rs146250226
|
0.00026
|
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg)
|
rs138982161
|
0.00026
|
NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val)
|
rs139743343
|
0.00026
|
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter)
|
rs150616080
|
0.00025
|
NM_001206927.2(DNAH8):c.5545A>T (p.Ile1849Leu)
|
rs145036630
|
0.00025
|
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu)
|
rs72658814
|
0.00025
|
NM_014956.5(CEP164):c.2356C>T (p.Arg786Trp)
|
rs139225491
|
0.00025
|
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser)
|
rs188020560
|
0.00025
|
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp)
|
rs150938554
|
0.00025
|
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala)
|
rs77579747
|
0.00025
|
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)
|
rs150743868
|
0.00025
|
NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly)
|
rs199864090
|
0.00024
|
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)
|
rs187023993
|
0.00024
|
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr)
|
rs201738475
|
0.00024
|
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser)
|
rs141471091
|
0.00024
|
NM_014956.5(CEP164):c.2943G>C (p.Glu981Asp)
|
rs112958115
|
0.00024
|
NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu)
|
rs372414566
|
0.00024
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
NM_015102.5(NPHP4):c.419C>T (p.Pro140Leu)
|
rs370837214
|
0.00024
|
NM_015102.5(NPHP4):c.790G>A (p.Val264Ile)
|
rs772753780
|
0.00024
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn)
|
rs370948871
|
0.00024
|
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn)
|
rs201982308
|
0.00024
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln)
|
rs150931960
|
0.00024
|
NM_213607.3(CCDC103):c.31G>C (p.Ala11Pro)
|
rs146015856
|
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_014956.5(CEP164):c.1502A>G (p.Gln501Arg)
|
rs375085754
|
0.00023
|
NM_014956.5(CEP164):c.2669G>A (p.Arg890His)
|
rs368178224
|
0.00023
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
NM_145038.5(DRC1):c.421T>G (p.Trp141Gly)
|
rs139583194
|
0.00023
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)
|
rs146412602
|
0.00023
|
NM_001128178.3(NPHP1):c.771+2C>T
|
rs189320299
|
0.00022
|
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp)
|
rs201944089
|
0.00022
|
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro)
|
rs766646786
|
0.00022
|
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)
|
rs374663067
|
0.00022
|
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)
|
rs201517720
|
0.00022
|
NM_001384732.1(CPLANE1):c.7616C>T (p.Ala2539Val)
|
rs150595284
|
0.00022
|
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys)
|
rs148093208
|
0.00022
|
NM_014956.5(CEP164):c.1042C>G (p.Pro348Ala)
|
rs147746626
|
0.00022
|
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu)
|
rs533077805
|
0.00022
|
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys)
|
rs147882975
|
0.00022
|
NM_001277115.2(DNAH11):c.4775G>T (p.Cys1592Phe)
|
rs72657327
|
0.00021
|
NM_001277115.2(DNAH11):c.8072A>G (p.Gln2691Arg)
|
rs183682756
|
0.00021
|
NM_001372.4(DNAH9):c.39G>C (p.Glu13Asp)
|
rs186019513
|
0.00021
|
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly)
|
rs747204358
|
0.00021
|
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn)
|
rs139286030
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)
|
rs148230131
|
0.00021
|
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala)
|
rs201248643
|
0.00021
|
NM_015512.5(DNAH1):c.4086G>T (p.Arg1362=)
|
rs199813499
|
0.00021
|
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp)
|
rs137906877
|
0.00021
|
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)
|
rs201662623
|
0.00021
|
NM_017802.4(DNAAF5):c.2510C>T (p.Ser837Leu)
|
rs115620965
|
0.00021
|
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)
|
rs187993089
|
0.00021
|
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys)
|
rs201820395
|
0.00021
|
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr)
|
rs374742528
|
0.00021
|
NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln)
|
rs142510905
|
0.00020
|
NM_001277115.2(DNAH11):c.472C>T (p.His158Tyr)
|
rs374186868
|
0.00020
|
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)
|
rs775431837
|
0.00020
|
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr)
|
rs377360750
|
0.00020
|
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile)
|
rs776917693
|
0.00020
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)
|
rs567310076
|
0.00020
|
NM_153240.5(NPHP3):c.2172-4A>G
|
rs375032661
|
0.00020
|
NM_170784.3(MKKS):c.59A>G (p.Glu20Gly)
|
rs199553497
|
0.00020
|
NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe)
|
rs200373010
|
0.00020
|
NM_001102564.3(IFT43):c.16G>C (p.Asp6His)
|
rs201966792
|
0.00019
|
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn)
|
rs138832246
|
0.00019
|
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr)
|
rs201028172
|
0.00019
|
NM_001378454.1(ALMS1):c.3295C>A (p.Gln1099Lys)
|
rs764823951
|
0.00019
|
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser)
|
rs182127619
|
0.00019
|
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser)
|
rs192863498
|
0.00019
|
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr)
|
rs367656336
|
0.00019
|
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg)
|
rs539112266
|
0.00019
|
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe)
|
rs373944325
|
0.00019
|
NM_001384732.1(CPLANE1):c.5651A>C (p.Lys1884Thr)
|
rs373865796
|
0.00019
|
NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr)
|
rs200461035
|
0.00019
|
NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe)
|
rs138699534
|
0.00019
|
NM_012210.4(TRIM32):c.578G>A (p.Arg193His)
|
rs373853273
|
0.00019
|
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr)
|
rs149642543
|
0.00019
|
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)
|
rs201065562
|
0.00019
|
NM_015102.5(NPHP4):c.2129G>A (p.Gly710Asp)
|
rs563684894
|
0.00019
|
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His)
|
rs137932153
|
0.00019
|
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala)
|
rs752069515
|
0.00019
|
NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln)
|
rs200902434
|
0.00019
|
NM_024649.5(BBS1):c.-3A>G
|
rs549210746
|
0.00019
|
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr)
|
rs145094101
|
0.00019
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala)
|
rs199678654
|
0.00019
|
NM_031885.3(BBS2):c.-190G>C
|
rs555974619
|
0.00019
|
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)
|
rs147397090
|
0.00019
|
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)
|
rs199898889
|
0.00019
|
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly)
|
rs148843256
|
0.00019
|
NM_001010892.3(RSPH4A):c.1340T>C (p.Val447Ala)
|
rs371062144
|
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_001378454.1(ALMS1):c.2893T>C (p.Tyr965His)
|
rs201180147
|
0.00018
|
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His)
|
rs200657425
|
0.00018
|
NM_014956.5(CEP164):c.1316A>T (p.Gln439Leu)
|
rs143370558
|
0.00018
|
NM_014956.5(CEP164):c.338A>G (p.Lys113Arg)
|
rs77118839
|
0.00018
|
NM_015102.5(NPHP4):c.1813G>A (p.Gly605Ser)
|
rs201282741
|
0.00018
|
NM_015512.5(DNAH1):c.6212T>G (p.Leu2071Arg)
|
rs757396103
|
0.00018
|
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile)
|
rs200292678
|
0.00018
|
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser)
|
rs142140276
|
0.00018
|
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys)
|
rs369902368
|
0.00018
|
NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln)
|
rs149078926
|
0.00018
|
NM_001102564.3(IFT43):c.444+5G>A
|
rs377078385
|
0.00017
|
NM_001195305.3(BBIP1):c.116C>T (p.Pro39Leu)
|
rs912754275
|
0.00017
|
NM_001199397.3(NEK1):c.1925C>G (p.Ala642Gly)
|
rs529024280
|
0.00017
|
NM_001364171.2(ODAD1):c.991G>A (p.Glu331Lys)
|
rs142193030
|
0.00017
|
NM_003114.5(SPAG1):c.2515A>T (p.Met839Leu)
|
rs142674953
|
0.00017
|
NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu)
|
rs559070007
|
0.00017
|
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn)
|
rs200520898
|
0.00017
|
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His)
|
rs375819124
|
0.00017
|
NM_015662.3(IFT172):c.2976-3C>T
|
rs371847154
|
0.00017
|
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp)
|
rs139223261
|
0.00017
|
NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val)
|
rs371940683
|
0.00017
|
NM_024753.5(TTC21B):c.2549C>T (p.Ala850Val)
|
rs199795649
|
0.00017
|
NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp)
|
rs367690496
|
0.00017
|
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val)
|
rs201967816
|
0.00017
|
NM_153240.5(NPHP3):c.944A>T (p.Asp315Val)
|
rs149565564
|
0.00017
|
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe)
|
rs201692401
|
0.00016
|
NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg)
|
rs373014753
|
0.00016
|
NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys)
|
rs374826188
|
0.00016
|
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp)
|
rs575196272
|
0.00016
|
NM_015102.5(NPHP4):c.1331G>A (p.Arg444Gln)
|
rs202179978
|
0.00016
|
NM_015102.5(NPHP4):c.2623G>A (p.Val875Met)
|
rs571204647
|
0.00016
|
NM_015102.5(NPHP4):c.2834G>A (p.Arg945His)
|
rs201531378
|
0.00016
|
NM_015102.5(NPHP4):c.467A>G (p.His156Arg)
|
rs199897869
|
0.00016
|
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile)
|
rs201412509
|
0.00016
|
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu)
|
rs141255069
|
0.00016
|
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln)
|
rs140908725
|
0.00016
|
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)
|
rs372102223
|
0.00016
|
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys)
|
rs199526690
|
0.00016
|
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe)
|
rs140821420
|
0.00016
|
NM_001023570.4(IQCB1):c.1153G>C (p.Glu385Gln)
|
rs772153735
|
0.00015
|
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)
|
rs369869567
|
0.00015
|
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser)
|
rs111659663
|
0.00015
|
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)
|
rs202228570
|
0.00015
|
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)
|
rs371608031
|
0.00015
|
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)
|
rs202129528
|
0.00015
|
NM_015102.5(NPHP4):c.2797C>T (p.Arg933Trp)
|
rs778505641
|
0.00015
|
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)
|
rs375836844
|
0.00015
|
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys)
|
rs146290725
|
0.00015
|
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln)
|
rs376163622
|
0.00015
|
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)
|
rs370004832
|
0.00015
|
NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys)
|
rs761712682
|
0.00014
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg)
|
rs371516347
|
0.00014
|
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val)
|
rs1445492577
|
0.00014
|
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln)
|
rs201677365
|
0.00014
|
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg)
|
rs368180778
|
0.00014
|
NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met)
|
rs77739540
|
0.00014
|
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)
|
rs145267929
|
0.00014
|
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln)
|
rs150498538
|
0.00014
|
NM_014956.5(CEP164):c.944A>G (p.Glu315Gly)
|
rs144767290
|
0.00014
|
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu)
|
rs372565083
|
0.00014
|
NM_015102.5(NPHP4):c.3352G>A (p.Val1118Met)
|
rs368703067
|
0.00014
|
NM_015102.5(NPHP4):c.4099G>A (p.Asp1367Asn)
|
rs367636423
|
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_015662.3(IFT172):c.590C>T (p.Pro197Leu)
|
rs368373262
|
0.00014
|
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu)
|
rs141011629
|
0.00014
|
NM_020347.4(LZTFL1):c.721G>A (p.Ala241Thr)
|
rs73064420
|
0.00014
|
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
|
rs145718265
|
0.00014
|
NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp)
|
rs371376632
|
0.00014
|
NM_145038.5(DRC1):c.1913A>C (p.Lys638Thr)
|
rs142671417
|
0.00014
|
NM_145045.5(ODAD3):c.914A>G (p.Lys305Arg)
|
rs762033637
|
0.00014
|
NM_152618.3(BBS12):c.787T>C (p.Tyr263His)
|
rs150040166
|
0.00014
|
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys)
|
rs144731534
|
0.00014
|
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln)
|
rs149042169
|
0.00014
|
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_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp)
|
rs200992340
|
0.00013
|
NM_001378454.1(ALMS1):c.121G>C (p.Val41Leu)
|
rs201868751
|
0.00013
|
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met)
|
rs375314465
|
0.00013
|
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met)
|
rs150261456
|
0.00013
|
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln)
|
rs138596995
|
0.00013
|
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly)
|
rs539181813
|
0.00013
|
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu)
|
rs749571139
|
0.00013
|
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp)
|
rs762383978
|
0.00013
|
NM_015102.5(NPHP4):c.3996+3C>T
|
rs373386232
|
0.00013
|
NM_015102.5(NPHP4):c.868G>T (p.Gly290Cys)
|
rs755124987
|
0.00013
|
NM_015120.4(ALMS1):c.-64C>T
|
rs886056293
|
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_025132.4(WDR19):c.3483+5G>A
|
rs201216969
|
0.00013
|
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)
|
rs201949664
|
0.00013
|
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val)
|
rs144034147
|
0.00013
|
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly)
|
rs149668719
|
0.00013
|
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)
|
rs373951297
|
0.00012
|
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val)
|
rs375643798
|
0.00012
|
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg)
|
rs763198301
|
0.00012
|
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)
|
rs368957150
|
0.00012
|
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser)
|
rs187887110
|
0.00012
|
NM_001384732.1(CPLANE1):c.1271G>A (p.Arg424Gln)
|
rs369204500
|
0.00012
|
NM_001384732.1(CPLANE1):c.1487A>G (p.Glu496Gly)
|
rs938547995
|
0.00012
|
NM_001384732.1(CPLANE1):c.338C>A (p.Ala113Glu)
|
rs534807606
|
0.00012
|
NM_001384732.1(CPLANE1):c.9307C>T (p.His3103Tyr)
|
rs145378102
|
0.00012
|
NM_001481.3(GAS8):c.222G>T (p.Lys74Asn)
|
rs141234041
|
0.00012
|
NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe)
|
rs1451350869
|
0.00012
|
NM_012210.4(TRIM32):c.863C>A (p.Pro288His)
|
rs367574371
|
0.00012
|
NM_014714.4(IFT140):c.2551G>A (p.Val851Met)
|
rs754753583
|
0.00012
|
NM_015102.5(NPHP4):c.1376C>A (p.Thr459Lys)
|
rs371819898
|
0.00012
|
NM_015102.5(NPHP4):c.2603G>A (p.Ser868Asn)
|
rs763576044
|
0.00012
|
NM_017950.4(CCDC40):c.2584C>T (p.Arg862Trp)
|
rs201858385
|
0.00012
|
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile)
|
rs201162086
|
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_031885.5(BBS2):c.1157C>T (p.Thr386Met)
|
rs138314289
|
0.00012
|
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)
|
rs137852928
|
0.00012
|
NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys)
|
rs202027034
|
0.00012
|
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys)
|
rs553366477
|
0.00011
|
NM_001277115.2(DNAH11):c.13243A>C (p.Lys4415Gln)
|
rs372325290
|
0.00011
|
NM_001277115.2(DNAH11):c.338C>A (p.Ala113Glu)
|
rs772913999
|
0.00011
|
NM_001364171.2(ODAD1):c.1198C>T (p.Arg400Cys)
|
rs149354918
|
0.00011
|
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu)
|
rs774784126
|
0.00011
|
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys)
|
rs201874056
|
0.00011
|
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met)
|
rs199682595
|
0.00011
|
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln)
|
rs142917664
|
0.00011
|
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly)
|
rs367728446
|
0.00011
|
NM_001384732.1(CPLANE1):c.1645A>G (p.Met549Val)
|
rs563502625
|
0.00011
|
NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys)
|
rs150961792
|
0.00011
|
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val)
|
rs201949058
|
0.00011
|
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp)
|
rs146480546
|
0.00011
|
NM_014714.4(IFT140):c.3383G>A (p.Arg1128His)
|
rs147661907
|
0.00011
|
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr)
|
rs751861503
|
0.00011
|
NM_014956.5(CEP164):c.1313G>A (p.Arg438Gln)
|
rs137987733
|
0.00011
|
NM_014956.5(CEP164):c.4130C>T (p.Pro1377Leu)
|
rs146456836
|
0.00011
|
NM_015102.5(NPHP4):c.2642C>T (p.Ala881Val)
|
rs369335626
|
0.00011
|
NM_015102.5(NPHP4):c.3011C>T (p.Thr1004Met)
|
rs528511138
|
0.00011
|
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met)
|
rs201433248
|
0.00011
|
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp)
|
rs376720589
|
0.00011
|
NM_015512.5(DNAH1):c.767G>A (p.Arg256Gln)
|
rs200017350
|
0.00011
|
NM_015662.3(IFT172):c.2159G>A (p.Arg720His)
|
rs202089120
|
0.00011
|
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser)
|
rs369780709
|
0.00011
|
NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys)
|
rs373098915
|
0.00011
|
NM_015896.4(ZMYND10):c.1171C>T (p.Arg391Trp)
|
rs150467144
|
0.00011
|
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)
|
rs368020224
|
0.00011
|
NM_018718.3(CEP41):c.107T>C (p.Met36Thr)
|
rs368178632
|
0.00011
|
NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr)
|
rs760237505
|
0.00011
|
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr)
|
rs767696555
|
0.00011
|
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys)
|
rs779666225
|
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_025132.4(WDR19):c.1796C>T (p.Ala599Val)
|
rs193273000
|
0.00011
|
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys)
|
rs548534755
|
0.00011
|
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly)
|
rs201051877
|
0.00011
|
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala)
|
rs202232525
|
0.00011
|
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp)
|
rs560253338
|
0.00011
|
NM_152618.3(BBS12):c.344T>C (p.Val115Ala)
|
rs144179606
|
0.00011
|
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val)
|
rs202048210
|
0.00011
|
NM_153240.5(NPHP3):c.65C>T (p.Ala22Val)
|
rs369447363
|
0.00011
|
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu)
|
rs375084239
|
0.00011
|
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser)
|
rs370656021
|
0.00011
|
NM_176824.3(BBS7):c.917T>C (p.Val306Ala)
|
rs373378747
|
0.00011
|
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile)
|
rs139303948
|
0.00011
|
NM_198428.3(BBS9):c.862A>G (p.Ser288Gly)
|
rs146770174
|
0.00011
|
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp)
|
rs369647403
|
0.00011
|
NM_198525.3(KIF7):c.2191+7C>T
|
rs371970440
|
0.00011
|
NM_198525.3(KIF7):c.2482G>A (p.Val828Met)
|
rs143915145
|
0.00011
|
NM_001023570.4(IQCB1):c.1000A>C (p.Lys334Gln)
|
rs532987681
|
0.00010
|
NM_001102564.3(IFT43):c.92C>T (p.Ala31Val)
|
rs147933112
|
0.00010
|
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg)
|
rs768608137
|
0.00010
|
NM_001195305.3(BBIP1):c.233G>A (p.Arg78His)
|
rs532149239
|
0.00010
|
NM_001277115.2(DNAH11):c.773T>C (p.Ile258Thr)
|
rs771437656
|
0.00010
|
NM_001364171.2(ODAD1):c.1822C>T (p.His608Tyr)
|
rs201978305
|
0.00010
|
NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile)
|
rs369279743
|
0.00010
|
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His)
|
rs148539877
|
0.00010
|
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln)
|
rs371007945
|
0.00010
|
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser)
|
rs531648685
|
0.00010
|
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln)
|
rs372620412
|
0.00010
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
NM_001378454.1(ALMS1):c.5849T>C (p.Ile1950Thr)
|
rs773754661
|
0.00010
|
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)
|
rs201439617
|
0.00010
|
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp)
|
rs189796608
|
0.00010
|
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp)
|
rs749099710
|
0.00010
|
NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser)
|
rs145645423
|
0.00010
|
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg)
|
rs146163533
|
0.00010
|
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala)
|
rs199561679
|
0.00010
|
NM_015102.5(NPHP4):c.1541C>T (p.Pro514Leu)
|
rs367694436
|
0.00010
|
NM_015102.5(NPHP4):c.2569C>T (p.Arg857Cys)
|
rs372688518
|
0.00010
|
NM_015102.5(NPHP4):c.3895G>A (p.Gly1299Ser)
|
rs371368653
|
0.00010
|
NM_015102.5(NPHP4):c.4105C>T (p.Pro1369Ser)
|
rs376675995
|
0.00010
|
NM_015102.5(NPHP4):c.870C>T (p.Gly290=)
|
rs749844096
|
0.00010
|
NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys)
|
rs529914770
|
0.00010
|
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)
|
rs144405450
|
0.00010
|
NM_017950.4(CCDC40):c.2996G>A (p.Arg999His)
|
rs201293301
|
0.00010
|
NM_024753.5(TTC21B):c.437T>G (p.Val146Gly)
|
rs200916501
|
0.00010
|
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
|
rs200830750
|
0.00010
|
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)
|
rs371582975
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val)
|
rs192495145
|
0.00010
|
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val)
|
rs138364911
|
0.00010
|
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp)
|
rs755412340
|
0.00010
|
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr)
|
rs540856754
|
0.00010
|
NM_145045.5(ODAD3):c.1606G>A (p.Glu536Lys)
|
rs201176850
|
0.00010
|
NM_145045.5(ODAD3):c.922G>A (p.Ala308Thr)
|
rs201899388
|
0.00010
|
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser)
|
rs199596849
|
0.00010
|
NM_153240.5(NPHP3):c.2155G>A (p.Gly719Ser)
|
rs369022568
|
0.00010
|
NM_153240.5(NPHP3):c.2497G>C (p.Glu833Gln)
|
rs142084136
|
0.00010
|
NM_153240.5(NPHP3):c.87G>T (p.Glu29Asp)
|
rs951093397
|
0.00010
|
NM_153240.5(NPHP3):c.981A>C (p.Arg327Ser)
|
rs562721694
|
0.00010
|
NM_170784.3(MKKS):c.926G>A (p.Arg309His)
|
rs199939179
|
0.00010
|
NM_198428.3(BBS9):c.436G>A (p.Val146Ile)
|
rs372412756
|
0.00010
|
NM_198525.3(KIF7):c.2420C>T (p.Thr807Met)
|
rs757175418
|
0.00010
|
NM_001023570.4(IQCB1):c.1123C>A (p.His375Asn)
|
rs137890014
|
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.3588+1G>A
|
rs533296867
|
0.00009
|
NM_001277115.2(DNAH11):c.1567T>C (p.Tyr523His)
|
rs200126117
|
0.00009
|
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln)
|
rs144393366
|
0.00009
|
NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met)
|
rs140690090
|
0.00009
|
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala)
|
rs143074036
|
0.00009
|
NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu)
|
rs763327026
|
0.00009
|
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg)
|
rs202114540
|
0.00009
|
NM_001378454.1(ALMS1):c.3892C>A (p.Gln1298Lys)
|
rs770645262
|
0.00009
|
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp)
|
rs376812264
|
0.00009
|
NM_001378454.1(ALMS1):c.4199A>G (p.His1400Arg)
|
rs371101065
|
0.00009
|
NM_001378454.1(ALMS1):c.4948C>T (p.Pro1650Ser)
|
rs765233016
|
0.00009
|
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met)
|
rs375838474
|
0.00009
|
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
|
rs914898490
|
0.00009
|
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu)
|
rs200904521
|
0.00009
|
NM_001384732.1(CPLANE1):c.2446C>G (p.Leu816Val)
|
rs192335673
|
0.00009
|
NM_001384732.1(CPLANE1):c.9700A>T (p.Met3234Leu)
|
rs770395082
|
0.00009
|
NM_003114.5(SPAG1):c.496G>A (p.Val166Met)
|
rs201503190
|
0.00009
|
NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys)
|
rs143447584
|
0.00009
|
NM_006642.5(SDCCAG8):c.784G>C (p.Glu262Gln)
|
rs149038104
|
0.00009
|
NM_006642.5(SDCCAG8):c.832C>T (p.Arg278Cys)
|
rs769004589
|
0.00009
|
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser)
|
rs200294385
|
0.00009
|
NM_012210.4(TRIM32):c.494G>T (p.Arg165Leu)
|
rs761591526
|
0.00009
|
NM_012210.4(TRIM32):c.979A>G (p.Met327Val)
|
rs373287765
|
0.00009
|
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile)
|
rs183261797
|
0.00009
|
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile)
|
rs145746065
|
0.00009
|
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)
|
rs142106374
|
0.00009
|
NM_014956.5(CEP164):c.3234_3236del (p.Ser1081del)
|
rs749738679
|
0.00009
|
NM_014956.5(CEP164):c.3910C>T (p.Arg1304Trp)
|
rs139444171
|
0.00009
|
NM_014956.5(CEP164):c.4025C>T (p.Pro1342Leu)
|
rs531161184
|
0.00009
|
NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val)
|
rs143919649
|
0.00009
|
NM_015102.5(NPHP4):c.1230G>T (p.Gln410His)
|
rs368074369
|
0.00009
|
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln)
|
rs200128117
|
0.00009
|
NM_015102.5(NPHP4):c.2951C>T (p.Thr984Met)
|
rs377729557
|
0.00009
|
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile)
|
rs200702924
|
0.00009
|
NM_015102.5(NPHP4):c.3770C>T (p.Thr1257Ile)
|
rs746967083
|
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_015662.3(IFT172):c.145C>T (p.Arg49Trp)
|
rs141043554
|
0.00009
|
NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr)
|
rs144620711
|
0.00009
|
NM_015662.3(IFT172):c.247A>G (p.Ile83Val)
|
rs142227350
|
0.00009
|
NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr)
|
rs746868013
|
0.00009
|
NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser)
|
rs763238244
|
0.00009
|
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)
|
rs368178771
|
0.00009
|
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp)
|
rs767395683
|
0.00009
|
NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser)
|
rs767717128
|
0.00009
|
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala)
|
rs778812789
|
0.00009
|
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His)
|
rs139653847
|
0.00009
|
NM_024753.5(TTC21B):c.2606A>G (p.Gln869Arg)
|
rs137926033
|
0.00009
|
NM_024753.5(TTC21B):c.3673C>T (p.Arg1225Cys)
|
rs377393152
|
0.00009
|
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr)
|
rs369104382
|
0.00009
|
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val)
|
rs760625332
|
0.00009
|
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr)
|
rs563367049
|
0.00009
|
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)
|
rs144696430
|
0.00009
|
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys)
|
rs114401181
|
0.00009
|
NM_152384.3(BBS5):c.824C>T (p.Pro275Leu)
|
rs376275481
|
0.00009
|
NM_152618.3(BBS12):c.1262G>A (p.Arg421His)
|
rs778351153
|
0.00009
|
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)
|
rs376531209
|
0.00009
|
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp)
|
rs146054765
|
0.00009
|
NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp)
|
rs190548695
|
0.00009
|
NM_176824.3(BBS7):c.191C>T (p.Pro64Leu)
|
rs747055521
|
0.00009
|
NM_177965.4(CFAP418):c.194G>T (p.Ser65Ile)
|
rs969339085
|
0.00009
|
NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala)
|
rs201963508
|
0.00009
|
NM_198428.3(BBS9):c.2509A>G (p.Met837Val)
|
rs771310981
|
0.00009
|
NM_001023570.4(IQCB1):c.1324G>T (p.Ala442Ser)
|
rs780327292
|
0.00008
|
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His)
|
rs766289967
|
0.00008
|
NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile)
|
rs528354205
|
0.00008
|
NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn)
|
rs754921505
|
0.00008
|
NM_001277115.2(DNAH11):c.5144G>A (p.Arg1715His)
|
rs763926220
|
0.00008
|
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys)
|
rs201208516
|
0.00008
|
NM_001384732.1(CPLANE1):c.3130C>T (p.Arg1044Cys)
|
rs376987361
|
0.00008
|
NM_001384732.1(CPLANE1):c.8474C>T (p.Thr2825Ile)
|
rs142316931
|
0.00008
|
NM_001384732.1(CPLANE1):c.9031G>A (p.Glu3011Lys)
|
rs200358545
|
0.00008
|
NM_001384732.1(CPLANE1):c.9524C>T (p.Thr3175Met)
|
rs587783354
|
0.00008
|
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00008
|
NM_006642.5(SDCCAG8):c.1123C>A (p.Leu375Ile)
|
rs745634199
|
0.00008
|
NM_012210.4(TRIM32):c.1012G>A (p.Ala338Thr)
|
rs141806013
|
0.00008
|
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe)
|
rs751137317
|
0.00008
|
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile)
|
rs538791217
|
0.00008
|
NM_014714.4(IFT140):c.2543G>A (p.Arg848His)
|
rs746743309
|
0.00008
|
NM_014956.5(CEP164):c.2858G>A (p.Arg953Gln)
|
rs184333345
|
0.00008
|
NM_015102.5(NPHP4):c.2093C>T (p.Ala698Val)
|
rs745698836
|
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_015512.5(DNAH1):c.1135A>G (p.Asn379Asp)
|
rs372166382
|
0.00008
|
NM_015662.3(IFT172):c.1829G>A (p.Arg610Gln)
|
rs144890293
|
0.00008
|
NM_015662.3(IFT172):c.1983T>A (p.His661Gln)
|
rs150739354
|
0.00008
|
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser)
|
rs765923597
|
0.00008
|
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)
|
rs79299301
|
0.00008
|
NM_016616.5(NME8):c.1657C>T (p.Arg553Ter)
|
rs145721687
|
0.00008
|
NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln)
|
rs369512832
|
0.00008
|
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe)
|
rs187863107
|
0.00008
|
NM_018139.3(DNAAF2):c.416A>G (p.Tyr139Cys)
|
rs761527467
|
0.00008
|
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)
|
rs144833282
|
0.00008
|
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln)
|
rs201335653
|
0.00008
|
NM_024753.5(TTC21B):c.234A>G (p.Ile78Met)
|
rs139885689
|
0.00008
|
NM_024753.5(TTC21B):c.795+3A>G
|
rs753275145
|
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_025132.4(WDR19):c.1127T>C (p.Val376Ala)
|
rs773816730
|
0.00008
|
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser)
|
rs772687020
|
0.00008
|
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys)
|
rs779635441
|
0.00008
|
NM_031885.5(BBS2):c.1381G>A (p.Val461Met)
|
rs377000980
|
0.00008
|
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys)
|
rs370111364
|
0.00008
|
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu)
|
rs145758016
|
0.00008
|
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile)
|
rs765722959
|
0.00008
|
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg)
|
rs368570508
|
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_170784.3(MKKS):c.1246C>A (p.His416Asn)
|
rs148800011
|
0.00008
|
NM_170784.3(MKKS):c.1294A>T (p.Ile432Phe)
|
rs374485160
|
0.00008
|
NM_170784.3(MKKS):c.629T>C (p.Ile210Thr)
|
rs201243884
|
0.00008
|
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu)
|
rs201263027
|
0.00008
|
NM_001023570.4(IQCB1):c.1727T>C (p.Ile576Thr)
|
rs150073223
|
0.00007
|
NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val)
|
rs373971733
|
0.00007
|
NM_001195305.3(BBIP1):c.46A>T (p.Thr16Ser)
|
rs946591185
|
0.00007
|
NM_001277115.2(DNAH11):c.13175C>T (p.Thr4392Met)
|
rs181603431
|
0.00007
|
NM_001277115.2(DNAH11):c.1848G>A (p.Gln616=)
|
rs369146775
|
0.00007
|
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln)
|
rs376602261
|
0.00007
|
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe)
|
rs555552377
|
0.00007
|
NM_001378454.1(ALMS1):c.3965A>G (p.Gln1322Arg)
|
rs1251705223
|
0.00007
|
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)
|
rs868269804
|
0.00007
|
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu)
|
rs376632767
|
0.00007
|
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu)
|
rs752648207
|
0.00007
|
NM_001384732.1(CPLANE1):c.1472A>T (p.Lys491Ile)
|
rs761746624
|
0.00007
|
NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr)
|
rs189493985
|
0.00007
|
NM_001384732.1(CPLANE1):c.9371C>T (p.Ala3124Val)
|
rs372396805
|
0.00007
|
NM_001481.3(GAS8):c.1297G>A (p.Asp433Asn)
|
rs150016330
|
0.00007
|
NM_006642.5(SDCCAG8):c.1115C>T (p.Ala372Val)
|
rs74701277
|
0.00007
|
NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu)
|
rs980791573
|
0.00007
|
NM_012144.4(DNAI1):c.1822C>A (p.His608Asn)
|
rs148762102
|
0.00007
|
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser)
|
rs778311141
|
0.00007
|
NM_014714.4(IFT140):c.2079G>C (p.Leu693Phe)
|
rs137966471
|
0.00007
|
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met)
|
rs757585192
|
0.00007
|
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys)
|
rs758535401
|
0.00007
|
NM_014956.5(CEP164):c.3268T>C (p.Tyr1090His)
|
rs140470210
|
0.00007
|
NM_014956.5(CEP164):c.3736C>T (p.Arg1246Trp)
|
rs369446103
|
0.00007
|
NM_014956.5(CEP164):c.4091T>A (p.Phe1364Tyr)
|
rs143693029
|
0.00007
|
NM_015102.5(NPHP4):c.2931G>A (p.Thr977=)
|
rs756370084
|
0.00007
|
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)
|
rs373369949
|
0.00007
|
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His)
|
rs369451829
|
0.00007
|
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn)
|
rs138777811
|
0.00007
|
NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr)
|
rs202216329
|
0.00007
|
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser)
|
rs771817287
|
0.00007
|
NM_015910.7(WDPCP):c.842G>A (p.Arg281His)
|
rs3738877
|
0.00007
|
NM_024649.5(BBS1):c.1243G>A (p.Val415Met)
|
rs150444177
|
0.00007
|
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala)
|
rs762885961
|
0.00007
|
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr)
|
rs375609644
|
0.00007
|
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val)
|
rs1289111857
|
0.00007
|
NM_025132.4(WDR19):c.1391G>A (p.Arg464His)
|
rs369201153
|
0.00007
|
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg)
|
rs756321262
|
0.00007
|
NM_144596.4(TTC8):c.308G>T (p.Gly103Val)
|
rs140710339
|
0.00007
|
NM_147127.5(EVC2):c.1470+3A>T
|
rs370769794
|
0.00007
|
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)
|
rs180747811
|
0.00007
|
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)
|
rs369075832
|
0.00007
|
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His)
|
rs368126549
|
0.00007
|
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met)
|
rs150867534
|
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_198428.3(BBS9):c.2033G>A (p.Arg678His)
|
rs200654248
|
0.00007
|
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)
|
rs553968087
|
0.00007
|
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu)
|
rs778799892
|
0.00006
|
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser)
|
rs554856028
|
0.00006
|
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln)
|
rs748557384
|
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.74A>G (p.Asp25Gly)
|
rs778792339
|
0.00006
|
NM_001134831.2(AHI1):c.853A>G (p.Met285Val)
|
rs200389118
|
0.00006
|
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=)
|
rs375770842
|
0.00006
|
NM_001195305.3(BBIP1):c.175A>C (p.Lys59Gln)
|
rs1332007527
|
0.00006
|
NM_001277115.2(DNAH11):c.6514G>C (p.Val2172Leu)
|
rs375008007
|
0.00006
|
NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys)
|
rs550602612
|
0.00006
|
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp)
|
rs573748379
|
0.00006
|
NM_001378454.1(ALMS1):c.10704A>C (p.Arg3568Ser)
|
rs758987316
|
0.00006
|
NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala)
|
rs189851617
|
0.00006
|
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg)
|
rs371587051
|
0.00006
|
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe)
|
rs538743256
|
0.00006
|
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His)
|
rs181507134
|
0.00006
|
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala)
|
rs772287164
|
0.00006
|
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)
|
rs373638043
|
0.00006
|
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)
|
rs370398704
|
0.00006
|
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn)
|
rs1400122858
|
0.00006
|
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp)
|
rs145383239
|
0.00006
|
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr)
|
rs368409205
|
0.00006
|
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)
|
rs375247004
|
0.00006
|
NM_001384732.1(CPLANE1):c.1123C>T (p.Pro375Ser)
|
rs774016809
|
0.00006
|
NM_001384732.1(CPLANE1):c.1303A>G (p.Met435Val)
|
rs1184764389
|
0.00006
|
NM_001384732.1(CPLANE1):c.1371+5A>G
|
rs794727005
|
0.00006
|
NM_001384732.1(CPLANE1):c.1969G>A (p.Val657Met)
|
rs529419886
|
0.00006
|
NM_001384732.1(CPLANE1):c.5729A>C (p.Asp1910Ala)
|
rs759558910
|
0.00006
|
NM_001384732.1(CPLANE1):c.6644A>G (p.His2215Arg)
|
rs556705113
|
0.00006
|
NM_001384732.1(CPLANE1):c.7940C>T (p.Ser2647Leu)
|
rs202140926
|
0.00006
|
NM_001384732.1(CPLANE1):c.7958A>G (p.Tyr2653Cys)
|
rs371374142
|
0.00006
|
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His)
|
rs771622959
|
0.00006
|
NM_006642.5(SDCCAG8):c.1022A>C (p.Lys341Thr)
|
rs145984257
|
0.00006
|
NM_006642.5(SDCCAG8):c.1279A>C (p.Lys427Gln)
|
rs375037219
|
0.00006
|
NM_012210.4(TRIM32):c.1223G>A (p.Arg408His)
|
rs183136193
|
0.00006
|
NM_012210.4(TRIM32):c.480G>A (p.Met160Ile)
|
rs200196832
|
0.00006
|
NM_012210.4(TRIM32):c.524A>G (p.Lys175Arg)
|
rs777911858
|
0.00006
|
NM_012210.4(TRIM32):c.973A>G (p.Met325Val)
|
rs148027625
|
0.00006
|
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr)
|
rs200292484
|
0.00006
|
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln)
|
rs147556035
|
0.00006
|
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp)
|
rs781160807
|
0.00006
|
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val)
|
rs748463111
|
0.00006
|
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)
|
rs200394007
|
0.00006
|
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser)
|
rs756324852
|
0.00006
|
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu)
|
rs566568065
|
0.00006
|
NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly)
|
rs771632573
|
0.00006
|
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)
|
rs369671309
|
0.00006
|
NM_014956.5(CEP164):c.1717C>A (p.Pro573Thr)
|
rs779345917
|
0.00006
|
NM_014956.5(CEP164):c.203T>C (p.Ile68Thr)
|
rs747800943
|
0.00006
|
NM_014956.5(CEP164):c.3869C>T (p.Pro1290Leu)
|
rs377394847
|
0.00006
|
NM_015102.5(NPHP4):c.1025G>A (p.Arg342His)
|
rs369550765
|
0.00006
|
NM_015102.5(NPHP4):c.1088T>G (p.Val363Gly)
|
rs369344801
|
0.00006
|
NM_015102.5(NPHP4):c.1222C>T (p.Pro408Ser)
|
rs201192228
|
0.00006
|
NM_015102.5(NPHP4):c.1238T>C (p.Ile413Thr)
|
rs373614448
|
0.00006
|
NM_015102.5(NPHP4):c.1439C>T (p.Ser480Leu)
|
rs762305544
|
0.00006
|
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp)
|
rs587783027
|
0.00006
|
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu)
|
rs200821373
|
0.00006
|
NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu)
|
rs200272048
|
0.00006
|
NM_015102.5(NPHP4):c.279G>T (p.Glu93Asp)
|
rs775927621
|
0.00006
|
NM_015102.5(NPHP4):c.2881C>T (p.Arg961Cys)
|
rs376773394
|
0.00006
|
NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met)
|
rs199645515
|
0.00006
|
NM_015102.5(NPHP4):c.3104C>T (p.Pro1035Leu)
|
rs376508978
|
0.00006
|
NM_015102.5(NPHP4):c.3118A>G (p.Met1040Val)
|
rs777310738
|
0.00006
|
NM_015102.5(NPHP4):c.3231+5G>A
|
rs886046460
|
0.00006
|
NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys)
|
rs774386141
|
0.00006
|
NM_015102.5(NPHP4):c.3757C>T (p.Arg1253Trp)
|
rs762195159
|
0.00006
|
NM_015102.5(NPHP4):c.4118G>A (p.Arg1373Gln)
|
rs768550124
|
0.00006
|
NM_015102.5(NPHP4):c.4261G>A (p.Val1421Met)
|
rs371657189
|
0.00006
|
NM_015102.5(NPHP4):c.619C>T (p.Leu207=)
|
rs765514910
|
0.00006
|
NM_015102.5(NPHP4):c.863G>A (p.Arg288His)
|
rs774872736
|
0.00006
|
NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys)
|
rs761345213
|
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_015631.6(TCTN3):c.970G>A (p.Val324Ile)
|
rs769275482
|
0.00006
|
NM_015662.3(IFT172):c.2522C>T (p.Ala841Val)
|
rs762431558
|
0.00006
|
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr)
|
rs377646246
|
0.00006
|
NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg)
|
rs146047876
|
0.00006
|
NM_015662.3(IFT172):c.442A>G (p.Ile148Val)
|
rs759861487
|
0.00006
|
NM_015910.7(WDPCP):c.1163G>A (p.Ser388Asn)
|
rs780625068
|
0.00006
|
NM_017802.4(DNAAF5):c.1246G>A (p.Val416Met)
|
rs775542739
|
0.00006
|
NM_020347.4(LZTFL1):c.56G>A (p.Arg19His)
|
rs537401357
|
0.00006
|
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val)
|
rs779742315
|
0.00006
|
NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys)
|
rs148885547
|
0.00006
|
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser)
|
rs755782127
|
0.00006
|
NM_024649.5(BBS1):c.1394G>A (p.Arg465His)
|
rs146072788
|
0.00006
|
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser)
|
rs369653969
|
0.00006
|
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp)
|
rs770105141
|
0.00006
|
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)
|
rs142648652
|
0.00006
|
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
|
rs199633103
|
0.00006
|
NM_024649.5(BBS1):c.569A>T (p.Lys190Met)
|
rs778672601
|
0.00006
|
NM_024649.5(BBS1):c.802C>T (p.Arg268Cys)
|
rs760381850
|
0.00006
|
NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu)
|
rs56867176
|
0.00006
|
NM_024753.5(TTC21B):c.1528G>C (p.Ala510Pro)
|
rs200505317
|
0.00006
|
NM_024753.5(TTC21B):c.1538A>G (p.Asn513Ser)
|
rs200137653
|
0.00006
|
NM_024753.5(TTC21B):c.2176C>A (p.Leu726Ile)
|
rs762535321
|
0.00006
|
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys)
|
rs763158250
|
0.00006
|
NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg)
|
rs769057187
|
0.00006
|
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys)
|
rs376425111
|
0.00006
|
NM_025114.4(CEP290):c.755A>T (p.Lys252Met)
|
rs991079890
|
0.00006
|
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly)
|
rs371744495
|
0.00006
|
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser)
|
rs758716599
|
0.00006
|
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr)
|
rs754631759
|
0.00006
|
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys)
|
rs779337768
|
0.00006
|
NM_031885.5(BBS2):c.-147G>T
|
rs886052154
|
0.00006
|
NM_031885.5(BBS2):c.1527+5G>C
|
rs769041685
|
0.00006
|
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
|
rs181107019
|
0.00006
|
NM_031885.5(BBS2):c.722A>C (p.Lys241Thr)
|
rs199918247
|
0.00006
|
NM_033028.5(BBS4):c.1114C>T (p.Pro372Ser)
|
rs375558008
|
0.00006
|
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)
|
rs769886837
|
0.00006
|
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)
|
rs759112760
|
0.00006
|
NM_144596.4(TTC8):c.874G>A (p.Val292Ile)
|
rs375086490
|
0.00006
|
NM_144596.4(TTC8):c.913A>G (p.Met305Val)
|
rs143237548
|
0.00006
|
NM_147127.5(EVC2):c.2343C>T (p.Gly781=)
|
rs762082443
|
0.00006
|
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn)
|
rs567175904
|
0.00006
|
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu)
|
rs369878286
|
0.00006
|
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu)
|
rs374865012
|
0.00006
|
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu)
|
rs767546051
|
0.00006
|
NM_152732.5(RSPH9):c.281C>T (p.Ala94Val)
|
rs142194323
|
0.00006
|
NM_153240.5(NPHP3):c.1873A>G (p.Ile625Val)
|
rs745831184
|
0.00006
|
NM_153240.5(NPHP3):c.2266C>T (p.Arg756Trp)
|
rs183049702
|
0.00006
|
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val)
|
rs202142404
|
0.00006
|
NM_153240.5(NPHP3):c.3032C>T (p.Ala1011Val)
|
rs202145723
|
0.00006
|
NM_153240.5(NPHP3):c.3062C>T (p.Ala1021Val)
|
rs759153335
|
0.00006
|
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe)
|
rs200233813
|
0.00006
|
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys)
|
rs192288680
|
0.00006
|
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)
|
rs202036490
|
0.00006
|
NM_153704.6(TMEM67):c.869+17T>A
|
rs767408748
|
0.00006
|
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)
|
rs766132697
|
0.00006
|
NM_170784.3(MKKS):c.281T>G (p.Phe94Cys)
|
rs141181516
|
0.00006
|
NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr)
|
rs368277209
|
0.00006
|
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr)
|
rs143700362
|
0.00006
|
NM_176824.3(BBS7):c.683G>A (p.Arg228His)
|
rs369866009
|
0.00006
|
NM_177965.4(CFAP418):c.82G>A (p.Glu28Lys)
|
rs768222931
|
0.00006
|
NM_198428.3(BBS9):c.833G>A (p.Arg278Gln)
|
rs754343745
|
0.00006
|
NM_198525.3(KIF7):c.1741C>A (p.Pro581Thr)
|
rs769897141
|
0.00006
|
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp)
|
rs367734857
|
0.00006
|
NM_001010892.3(RSPH4A):c.902A>C (p.Gln301Pro)
|
rs755128358
|
0.00005
|
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln)
|
rs534052463
|
0.00005
|
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly)
|
rs369783406
|
0.00005
|
NM_001377.3(DYNC2H1):c.2422G>A (p.Gly808Ser)
|
rs372055203
|
0.00005
|
NM_001378454.1(ALMS1):c.11167A>G (p.Lys3723Glu)
|
rs530985565
|
0.00005
|
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val)
|
rs780286947
|
0.00005
|
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp)
|
rs776351580
|
0.00005
|
NM_001378454.1(ALMS1):c.3088T>A (p.Ser1030Thr)
|
rs1023974968
|
0.00005
|
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu)
|
rs370406004
|
0.00005
|
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val)
|
rs373213201
|
0.00005
|
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)
|
rs770424780
|
0.00005
|
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys)
|
rs201162418
|
0.00005
|
NM_001378454.1(ALMS1):c.6183G>C (p.Gln2061His)
|
rs200041852
|
0.00005
|
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr)
|
rs200724860
|
0.00005
|
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys)
|
rs373998843
|
0.00005
|
NM_001384732.1(CPLANE1):c.3100A>G (p.Ile1034Val)
|
rs965483152
|
0.00005
|
NM_001384732.1(CPLANE1):c.5311T>C (p.Tyr1771His)
|
rs748355456
|
0.00005
|
NM_001384732.1(CPLANE1):c.532_534del (p.Lys178del)
|
rs886043021
|
0.00005
|
NM_001384732.1(CPLANE1):c.8197C>T (p.Arg2733Trp)
|
rs142792453
|
0.00005
|
NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys)
|
rs576672580
|
0.00005
|
NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr)
|
rs200326473
|
0.00005
|
NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile)
|
rs141953092
|
0.00005
|
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro)
|
rs145907585
|
0.00005
|
NM_014714.4(IFT140):c.1976G>A (p.Arg659Gln)
|
rs780189760
|
0.00005
|
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile)
|
rs199758112
|
0.00005
|
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys)
|
rs774690522
|
0.00005
|
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys)
|
rs368830697
|
0.00005
|
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)
|
rs571556177
|
0.00005
|
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln)
|
rs150276786
|
0.00005
|
NM_014956.5(CEP164):c.1574A>G (p.Gln525Arg)
|
rs778958469
|
0.00005
|
NM_014956.5(CEP164):c.2977T>G (p.Ser993Ala)
|
rs200571532
|
0.00005
|
NM_014956.5(CEP164):c.4355A>G (p.His1452Arg)
|
rs370039438
|
0.00005
|
NM_014956.5(CEP164):c.4375C>T (p.Arg1459Cys)
|
rs148650653
|
0.00005
|
NM_014956.5(CEP164):c.710C>A (p.Pro237His)
|
rs567606919
|
0.00005
|
NM_015102.5(NPHP4):c.1129G>A (p.Val377Ile)
|
rs751685493
|
0.00005
|
NM_015102.5(NPHP4):c.1709A>G (p.Glu570Gly)
|
rs200634524
|
0.00005
|
NM_015102.5(NPHP4):c.2143+3G>T
|
rs762882392
|
0.00005
|
NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp)
|
rs768582000
|
0.00005
|
NM_015102.5(NPHP4):c.2594C>T (p.Thr865Met)
|
rs368898819
|
0.00005
|
NM_015102.5(NPHP4):c.2647G>A (p.Val883Met)
|
rs769851221
|
0.00005
|
NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln)
|
rs768347263
|
0.00005
|
NM_015102.5(NPHP4):c.3037G>A (p.Glu1013Lys)
|
rs771042265
|
0.00005
|
NM_015102.5(NPHP4):c.3434A>G (p.Lys1145Arg)
|
rs923103631
|
0.00005
|
NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu)
|
rs773368924
|
0.00005
|
NM_015102.5(NPHP4):c.64C>T (p.Arg22Cys)
|
rs773309269
|
0.00005
|
NM_015102.5(NPHP4):c.694C>T (p.Arg232Cys)
|
rs572497035
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1029+3A>C
|
rs778583149
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys)
|
rs139964287
|
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_015662.3(IFT172):c.2036C>T (p.Thr679Ile)
|
rs369169776
|
0.00005
|
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln)
|
rs370097039
|
0.00005
|
NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn)
|
rs777398021
|
0.00005
|
NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys)
|
rs138003766
|
0.00005
|
NM_016616.5(NME8):c.1735A>G (p.Asn579Asp)
|
rs775868906
|
0.00005
|
NM_017802.4(DNAAF5):c.1375G>A (p.Ala459Thr)
|
rs201942359
|
0.00005
|
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His)
|
rs149610399
|
0.00005
|
NM_024649.5(BBS1):c.751C>G (p.Leu251Val)
|
rs951217740
|
0.00005
|
NM_024649.5(BBS1):c.901G>A (p.Val301Ile)
|
rs1037134217
|
0.00005
|
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val)
|
rs753629989
|
0.00005
|
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg)
|
rs202087501
|
0.00005
|
NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys)
|
rs757730050
|
0.00005
|
NM_024809.5(TCTN2):c.259C>T (p.Pro87Ser)
|
rs138562955
|
0.00005
|
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)
|
rs758453972
|
0.00005
|
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu)
|
rs571678102
|
0.00005
|
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu)
|
rs749621367
|
0.00005
|
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys)
|
rs757564170
|
0.00005
|
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu)
|
rs967941621
|
0.00005
|
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser)
|
rs771231605
|
0.00005
|
NM_152618.3(BBS12):c.1198G>A (p.Val400Met)
|
rs771136797
|
0.00005
|
NM_152618.3(BBS12):c.140G>A (p.Ser47Asn)
|
rs149473445
|
0.00005
|
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr)
|
rs762558855
|
0.00005
|
NM_153240.5(NPHP3):c.209T>C (p.Leu70Pro)
|
rs867826443
|
0.00005
|
NM_153240.5(NPHP3):c.3722T>C (p.Leu1241Ser)
|
rs756330976
|
0.00005
|
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His)
|
rs146130549
|
0.00005
|
NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys)
|
rs745852520
|
0.00005
|
NM_198428.3(BBS9):c.2449G>A (p.Asp817Asn)
|
rs781476538
|
0.00005
|
NM_198525.3(KIF7):c.2642C>T (p.Thr881Met)
|
rs372660203
|
0.00005
|
NM_001023570.4(IQCB1):c.1151G>A (p.Arg384Gln)
|
rs773223673
|
0.00004
|
NM_001023570.4(IQCB1):c.118C>T (p.Pro40Ser)
|
rs750396752
|
0.00004
|
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln)
|
rs778777318
|
0.00004
|
NM_001023570.4(IQCB1):c.1594G>A (p.Gly532Arg)
|
rs149207095
|
0.00004
|
NM_001023570.4(IQCB1):c.458T>C (p.Leu153Ser)
|
rs368772723
|
0.00004
|
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg)
|
rs376700204
|
0.00004
|
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met)
|
rs373660568
|
0.00004
|
NM_001102564.3(IFT43):c.587C>T (p.Thr196Met)
|
rs759241440
|
0.00004
|
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val)
|
rs577560349
|
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.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.2039T>C (p.Ile680Thr)
|
rs761596435
|
0.00004
|
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val)
|
rs763696602
|
0.00004
|
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln)
|
rs371242173
|
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_001174150.2(ARL13B):c.506C>T (p.Ser169Leu)
|
rs376359647
|
0.00004
|
NM_001195305.3(BBIP1):c.142A>G (p.Met48Val)
|
rs565980586
|
0.00004
|
NM_001277115.2(DNAH11):c.10274C>A (p.Thr3425Lys)
|
rs367800491
|
0.00004
|
NM_001277115.2(DNAH11):c.13310G>A (p.Arg4437His)
|
rs775606157
|
0.00004
|
NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu)
|
rs776376992
|
0.00004
|
NM_001277115.2(DNAH11):c.8552C>G (p.Ala2851Gly)
|
rs766265779
|
0.00004
|
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu)
|
rs758395320
|
0.00004
|
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)
|
rs757109346
|
0.00004
|
NM_001369.3(DNAH5):c.2368G>A (p.Ala790Thr)
|
rs201417702
|
0.00004
|
NM_001378454.1(ALMS1):c.10823G>A (p.Arg3608Gln)
|
rs752052259
|
0.00004
|
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp)
|
rs766771102
|
0.00004
|
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val)
|
rs758062371
|
0.00004
|
NM_001378454.1(ALMS1):c.11567C>T (p.Ser3856Phe)
|
rs1414717577
|
0.00004
|
NM_001378454.1(ALMS1):c.11863T>G (p.Ser3955Ala)
|
rs45528134
|
0.00004
|
NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala)
|
rs201777220
|
0.00004
|
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)
|
rs541576664
|
0.00004
|
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His)
|
rs61743400
|
0.00004
|
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile)
|
rs201990757
|
0.00004
|
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn)
|
rs200454461
|
0.00004
|
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp)
|
rs531859344
|
0.00004
|
NM_001378454.1(ALMS1):c.1971G>T (p.Gln657His)
|
rs753296810
|
0.00004
|
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser)
|
rs200827630
|
0.00004
|
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met)
|
rs768531502
|
0.00004
|
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe)
|
rs528863432
|
0.00004
|
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu)
|
rs191286546
|
0.00004
|
NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys)
|
rs375458331
|
0.00004
|
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met)
|
rs147001219
|
0.00004
|
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly)
|
rs549778430
|
0.00004
|
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg)
|
rs199698329
|
0.00004
|
NM_001378454.1(ALMS1):c.777T>G (p.Asp259Glu)
|
rs190445250
|
0.00004
|
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu)
|
rs201739856
|
0.00004
|
NM_001378454.1(ALMS1):c.8206G>A (p.Val2736Ile)
|
rs766878343
|
0.00004
|
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln)
|
rs778162209
|
0.00004
|
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg)
|
rs149329669
|
0.00004
|
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg)
|
rs376083621
|
0.00004
|
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro)
|
rs372015288
|
0.00004
|
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)
|
rs370014549
|
0.00004
|
NM_001384732.1(CPLANE1):c.2544G>C (p.Gln848His)
|
rs199749415
|
0.00004
|
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys)
|
rs1012462823
|
0.00004
|
NM_001384732.1(CPLANE1):c.3620T>C (p.Val1207Ala)
|
rs763642816
|
0.00004
|
NM_001384732.1(CPLANE1):c.3839G>A (p.Cys1280Tyr)
|
rs149685637
|
0.00004
|
NM_001384732.1(CPLANE1):c.4633C>T (p.Arg1545Cys)
|
rs775743007
|
0.00004
|
NM_001384732.1(CPLANE1):c.5141C>T (p.Thr1714Ile)
|
rs1424442518
|
0.00004
|
NM_001384732.1(CPLANE1):c.5203T>G (p.Leu1735Val)
|
rs369286097
|
0.00004
|
NM_001384732.1(CPLANE1):c.7154C>T (p.Thr2385Ile)
|
rs369361493
|
0.00004
|
NM_001384732.1(CPLANE1):c.8747C>G (p.Ser2916Cys)
|
rs1454812528
|
0.00004
|
NM_001384732.1(CPLANE1):c.8930A>G (p.His2977Arg)
|
rs767695592
|
0.00004
|
NM_001384732.1(CPLANE1):c.9038A>G (p.Tyr3013Cys)
|
rs143453963
|
0.00004
|
NM_003611.3(OFD1):c.1490A>C (p.His497Pro)
|
rs772474080
|
0.00004
|
NM_006642.5(SDCCAG8):c.415T>C (p.Cys139Arg)
|
rs769333887
|
0.00004
|
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser)
|
rs201773877
|
0.00004
|
NM_012210.4(TRIM32):c.1198C>T (p.Arg400Cys)
|
rs140059042
|
0.00004
|
NM_012210.4(TRIM32):c.127A>G (p.Ile43Val)
|
rs764366522
|
0.00004
|
NM_012210.4(TRIM32):c.1354C>T (p.Leu452Phe)
|
rs747067557
|
0.00004
|
NM_012210.4(TRIM32):c.1544G>A (p.Arg515Gln)
|
rs781359060
|
0.00004
|
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr)
|
rs539376933
|
0.00004
|
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln)
|
rs758882829
|
0.00004
|
NM_012210.4(TRIM32):c.496C>T (p.Arg166Trp)
|
rs752016708
|
0.00004
|
NM_012210.4(TRIM32):c.986C>T (p.Pro329Leu)
|
rs377510422
|
0.00004
|
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn)
|
rs201871050
|
0.00004
|
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp)
|
rs757678246
|
0.00004
|
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe)
|
rs141172132
|
0.00004
|
NM_014714.4(IFT140):c.2492G>A (p.Arg831His)
|
rs769046641
|
0.00004
|
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln)
|
rs771116194
|
0.00004
|
NM_014714.4(IFT140):c.2516C>T (p.Ala839Val)
|
rs145609033
|
0.00004
|
NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu)
|
rs2040655109
|
0.00004
|
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr)
|
rs369493147
|
0.00004
|
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met)
|
rs146537096
|
0.00004
|
NM_014714.4(IFT140):c.3271-5C>T
|
rs368227090
|
0.00004
|
NM_014714.4(IFT140):c.329G>A (p.Arg110His)
|
rs371077545
|
0.00004
|
NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr)
|
rs539917190
|
0.00004
|
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs)
|
rs753109181
|
0.00004
|
NM_014714.4(IFT140):c.903-5T>G
|
rs900599017
|
0.00004
|
NM_014956.5(CEP164):c.1860A>T (p.Gln620His)
|
rs745707423
|
0.00004
|
NM_014956.5(CEP164):c.2002C>A (p.Gln668Lys)
|
rs375310104
|
0.00004
|
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr)
|
rs773981726
|
0.00004
|
NM_014956.5(CEP164):c.3415C>T (p.Arg1139Cys)
|
rs374437787
|
0.00004
|
NM_014956.5(CEP164):c.499G>A (p.Val167Met)
|
rs748619597
|
0.00004
|
NM_015102.5(NPHP4):c.1168C>T (p.Arg390Cys)
|
rs748941493
|
0.00004
|
NM_015102.5(NPHP4):c.1448C>G (p.Pro483Arg)
|
rs759608529
|
0.00004
|
NM_015102.5(NPHP4):c.1634G>A (p.Gly545Asp)
|
rs200800785
|
0.00004
|
NM_015102.5(NPHP4):c.1822G>A (p.Glu608Lys)
|
rs780231735
|
0.00004
|
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu)
|
rs377160096
|
0.00004
|
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp)
|
rs767779934
|
0.00004
|
NM_015102.5(NPHP4):c.2869G>A (p.Ala957Thr)
|
rs772593921
|
0.00004
|
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His)
|
rs760874774
|
0.00004
|
NM_015102.5(NPHP4):c.319G>A (p.Val107Met)
|
rs377738968
|
0.00004
|
NM_015102.5(NPHP4):c.3310G>A (p.Ala1104Thr)
|
rs747313030
|
0.00004
|
NM_015102.5(NPHP4):c.3403C>T (p.Arg1135Cys)
|
rs374387338
|
0.00004
|
NM_015102.5(NPHP4):c.3739C>T (p.Arg1247Cys)
|
rs377686745
|
0.00004
|
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)
|
rs369162678
|
0.00004
|
NM_015102.5(NPHP4):c.494C>T (p.Pro165Leu)
|
rs750994795
|
0.00004
|
NM_015102.5(NPHP4):c.503A>G (p.Gln168Arg)
|
rs762284065
|
0.00004
|
NM_015102.5(NPHP4):c.593C>T (p.Ala198Val)
|
rs370410995
|
0.00004
|
NM_015102.5(NPHP4):c.997G>A (p.Gly333Arg)
|
rs772219240
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly)
|
rs752128105
|
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.2815G>A (p.Glu939Lys)
|
rs371763050
|
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_015512.5(DNAH1):c.9611G>A (p.Arg3204Gln)
|
rs970203810
|
0.00004
|
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln)
|
rs137868356
|
0.00004
|
NM_015662.3(IFT172):c.1247A>G (p.Glu416Gly)
|
rs779907319
|
0.00004
|
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp)
|
rs779152335
|
0.00004
|
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys)
|
rs148710037
|
0.00004
|
NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg)
|
rs762521619
|
0.00004
|
NM_015662.3(IFT172):c.184-6T>A
|
rs371658303
|
0.00004
|
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp)
|
rs201921339
|
0.00004
|
NM_015662.3(IFT172):c.2222G>A (p.Arg741His)
|
rs1011923461
|
0.00004
|
NM_015662.3(IFT172):c.2818C>T (p.Arg940Trp)
|
rs760316903
|
0.00004
|
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys)
|
rs762645007
|
0.00004
|
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)
|
rs76076247
|
0.00004
|
NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala)
|
rs553301895
|
0.00004
|
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys)
|
rs557292146
|
0.00004
|
NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val)
|
rs757464563
|
0.00004
|
NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile)
|
rs115716101
|
0.00004
|
NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala)
|
rs750991615
|
0.00004
|
NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp)
|
rs560831644
|
0.00004
|
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala)
|
rs749612277
|
0.00004
|
NM_015910.7(WDPCP):c.124C>T (p.His42Tyr)
|
rs747767839
|
0.00004
|
NM_015910.7(WDPCP):c.1417G>A (p.Val473Met)
|
rs374807784
|
0.00004
|
NM_015910.7(WDPCP):c.209C>T (p.Ala70Val)
|
rs141761524
|
0.00004
|
NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln)
|
rs535739714
|
0.00004
|
NM_017802.4(DNAAF5):c.1715C>T (p.Ala572Val)
|
rs147690117
|
0.00004
|
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala)
|
rs760951742
|
0.00004
|
NM_018139.3(DNAAF2):c.1115G>A (p.Arg372Gln)
|
rs753893107
|
0.00004
|
NM_020347.4(LZTFL1):c.583G>C (p.Asp195His)
|
rs781428652
|
0.00004
|
NM_023036.6(DNAI2):c.1327G>A (p.Asp443Asn)
|
rs368225621
|
0.00004
|
NM_023036.6(DNAI2):c.535G>T (p.Ala179Ser)
|
rs749303157
|
0.00004
|
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)
|
rs746206916
|
0.00004
|
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile)
|
rs111358560
|
0.00004
|
NM_024649.5(BBS1):c.175C>G (p.Leu59Val)
|
rs113822005
|
0.00004
|
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr)
|
rs368510687
|
0.00004
|
NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp)
|
rs144402299
|
0.00004
|
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)
|
rs141647931
|
0.00004
|
NM_024685.4(BBS10):c.1882A>G (p.Met628Val)
|
rs760505134
|
0.00004
|
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala)
|
rs766733372
|
0.00004
|
NM_024753.5(TTC21B):c.1573T>C (p.Tyr525His)
|
rs377009251
|
0.00004
|
NM_024753.5(TTC21B):c.1963C>T (p.Arg655Trp)
|
rs138937289
|
0.00004
|
NM_024753.5(TTC21B):c.2060T>G (p.Phe687Cys)
|
rs370846838
|
0.00004
|
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)
|
rs377209277
|
0.00004
|
NM_024753.5(TTC21B):c.361A>G (p.Ile121Val)
|
rs373353875
|
0.00004
|
NM_024753.5(TTC21B):c.3788G>A (p.Arg1263Gln)
|
rs201495700
|
0.00004
|
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val)
|
rs140899101
|
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.4523G>A (p.Arg1508Gln)
|
rs568197175
|
0.00004
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys)
|
rs201148758
|
0.00004
|
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His)
|
rs781620821
|
0.00004
|
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn)
|
rs750250561
|
0.00004
|
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp)
|
rs754690461
|
0.00004
|
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)
|
rs375644378
|
0.00004
|
NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp)
|
rs752280639
|
0.00004
|
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp)
|
rs372135700
|
0.00004
|
NM_031885.5(BBS2):c.320A>G (p.Asn107Ser)
|
rs1292834581
|
0.00004
|
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)
|
rs144680278
|
0.00004
|
NM_031885.5(BBS2):c.61A>G (p.Ile21Val)
|
rs1319616745
|
0.00004
|
NM_031885.5(BBS2):c.962C>T (p.Thr321Met)
|
rs758548498
|
0.00004
|
NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg)
|
rs149577332
|
0.00004
|
NM_033028.5(BBS4):c.1171G>A (p.Ala391Thr)
|
rs370963556
|
0.00004
|
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr)
|
rs760437306
|
0.00004
|
NM_033028.5(BBS4):c.405+6T>C
|
rs926942882
|
0.00004
|
NM_033028.5(BBS4):c.986C>T (p.Ala329Val)
|
rs201987100
|
0.00004
|
NM_144596.4(TTC8):c.800T>A (p.Val267Asp)
|
rs770333148
|
0.00004
|
NM_145038.5(DRC1):c.1391G>A (p.Arg464His)
|
rs200271366
|
0.00004
|
NM_152384.3(BBS5):c.475C>T (p.His159Tyr)
|
rs757525125
|
0.00004
|
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg)
|
rs201158536
|
0.00004
|
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg)
|
rs1487383886
|
0.00004
|
NM_152618.3(BBS12):c.1411G>A (p.Val471Met)
|
rs140675688
|
0.00004
|
NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser)
|
rs371908294
|
0.00004
|
NM_152618.3(BBS12):c.2024G>A (p.Arg675Gln)
|
rs144843913
|
0.00004
|
NM_152618.3(BBS12):c.809A>C (p.Glu270Ala)
|
rs915644000
|
0.00004
|
NM_153240.5(NPHP3):c.1028T>C (p.Ile343Thr)
|
rs145715402
|
0.00004
|
NM_153240.5(NPHP3):c.1032T>A (p.Asp344Glu)
|
rs778210113
|
0.00004
|
NM_153240.5(NPHP3):c.1476A>T (p.Glu492Asp)
|
rs371254114
|
0.00004
|
NM_153240.5(NPHP3):c.185G>A (p.Arg62His)
|
rs1295666035
|
0.00004
|
NM_153240.5(NPHP3):c.2770G>A (p.Asp924Asn)
|
rs141073933
|
0.00004
|
NM_153240.5(NPHP3):c.2817G>A (p.Met939Ile)
|
rs760355143
|
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_153717.3(EVC):c.580C>T (p.Arg194Trp)
|
rs757990300
|
0.00004
|
NM_176824.3(BBS7):c.601+3A>G
|
rs747555346
|
0.00004
|
NM_178452.6(DNAAF1):c.1948C>A (p.Leu650Ile)
|
rs759644657
|
0.00004
|
NM_181426.2(CCDC39):c.137G>A (p.Arg46His)
|
rs376716008
|
0.00004
|
NM_181426.2(CCDC39):c.2291T>C (p.Ile764Thr)
|
rs372308915
|
0.00004
|
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr)
|
rs758493174
|
0.00004
|
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp)
|
rs1312526837
|
0.00004
|
NM_198428.3(BBS9):c.1293G>C (p.Glu431Asp)
|
rs767170924
|
0.00004
|
NM_198428.3(BBS9):c.1322C>T (p.Thr441Met)
|
rs140675013
|
0.00004
|
NM_198428.3(BBS9):c.1468T>C (p.Tyr490His)
|
rs760084192
|
0.00004
|
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe)
|
rs779871496
|
0.00004
|
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter)
|
rs150826095
|
0.00004
|
NM_198428.3(BBS9):c.559A>G (p.Ser187Gly)
|
rs771447042
|
0.00004
|
NM_198428.3(BBS9):c.58T>G (p.Phe20Val)
|
rs779638896
|
0.00004
|
NM_198428.3(BBS9):c.702+6G>A
|
rs777329822
|
0.00004
|
NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp)
|
rs142786336
|
0.00004
|
NM_213607.3(CCDC103):c.197G>A (p.Gly66Glu)
|
rs199961859
|
0.00004
|
NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr)
|
rs776989189
|
0.00003
|
NM_001023570.4(IQCB1):c.1567+3A>G
|
rs1403759372
|
0.00003
|
NM_001023570.4(IQCB1):c.445C>A (p.Leu149Ile)
|
rs1001594561
|
0.00003
|
NM_001023570.4(IQCB1):c.826C>G (p.Gln276Glu)
|
rs141949168
|
0.00003
|
NM_001023570.4(IQCB1):c.904C>G (p.Gln302Glu)
|
rs756776335
|
0.00003
|
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser)
|
rs372775075
|
0.00003
|
NM_001082538.3(TCTN1):c.1282C>T (p.Arg428Trp)
|
rs572643772
|
0.00003
|
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser)
|
rs200480007
|
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.3329C>T (p.Thr1110Ile)
|
rs891027780
|
0.00003
|
NM_001195305.3(BBIP1):c.245_248dup (p.Glu84fs)
|
rs1210114050
|
0.00003
|
NM_001195305.3(BBIP1):c.263G>A (p.Arg88Gln)
|
rs781040735
|
0.00003
|
NM_001277115.2(DNAH11):c.5155A>G (p.Thr1719Ala)
|
rs369965539
|
0.00003
|
NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe)
|
rs750627875
|
0.00003
|
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)
|
rs576096758
|
0.00003
|
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met)
|
rs200894344
|
0.00003
|
NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys)
|
rs749862482
|
0.00003
|
NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser)
|
rs752638332
|
0.00003
|
NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys)
|
rs150899380
|
0.00003
|
NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val)
|
rs371037205
|
0.00003
|
NM_001378454.1(ALMS1):c.11441A>C (p.Asn3814Thr)
|
rs763907736
|
0.00003
|
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu)
|
rs771282076
|
0.00003
|
NM_001378454.1(ALMS1):c.11959T>C (p.Trp3987Arg)
|
rs375540445
|
0.00003
|
NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser)
|
rs28730862
|
0.00003
|
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His)
|
rs750598025
|
0.00003
|
NM_001378454.1(ALMS1):c.12257G>A (p.Arg4086Gln)
|
rs917280846
|
0.00003
|
NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His)
|
rs748624161
|
0.00003
|
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg)
|
rs200038446
|
0.00003
|
NM_001378454.1(ALMS1):c.1856C>T (p.Ser619Phe)
|
rs377341653
|
0.00003
|
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His)
|
rs756176783
|
0.00003
|
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala)
|
rs367641723
|
0.00003
|
NM_001378454.1(ALMS1):c.245C>T (p.Ala82Val)
|
rs747750620
|
0.00003
|
NM_001378454.1(ALMS1):c.2714C>G (p.Ser905Cys)
|
rs748479099
|
0.00003
|
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala)
|
rs201884768
|
0.00003
|
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala)
|
rs763680884
|
0.00003
|
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser)
|
rs746145270
|
0.00003
|
NM_001378454.1(ALMS1):c.4435G>A (p.Gly1479Arg)
|
rs750765175
|
0.00003
|
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val)
|
rs377671796
|
0.00003
|
NM_001378454.1(ALMS1):c.5597C>T (p.Pro1866Leu)
|
rs1323058030
|
0.00003
|
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His)
|
rs779739318
|
0.00003
|
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met)
|
rs562345472
|
0.00003
|
NM_001378454.1(ALMS1):c.5909T>C (p.Val1970Ala)
|
rs765405386
|
0.00003
|
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met)
|
rs774831792
|
0.00003
|
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp)
|
rs766346478
|
0.00003
|
NM_001378454.1(ALMS1):c.7040G>T (p.Gly2347Val)
|
rs752336806
|
0.00003
|
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu)
|
rs373985919
|
0.00003
|
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly)
|
rs1007457582
|
0.00003
|
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val)
|
rs1027248513
|
0.00003
|
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp)
|
rs1213279792
|
0.00003
|
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu)
|
rs201025991
|
0.00003
|
NM_001378454.1(ALMS1):c.8203G>A (p.Gly2735Ser)
|
rs761136859
|
0.00003
|
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg)
|
rs761800808
|
0.00003
|
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr)
|
rs369720907
|
0.00003
|
NM_001378454.1(ALMS1):c.8729A>G (p.His2910Arg)
|
rs781370939
|
0.00003
|
NM_001378454.1(ALMS1):c.9112C>T (p.Pro3038Ser)
|
rs370622410
|
0.00003
|
NM_001384732.1(CPLANE1):c.1055C>T (p.Thr352Ile)
|
rs1443893630
|
0.00003
|
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn)
|
rs533310477
|
0.00003
|
NM_001384732.1(CPLANE1):c.1964A>C (p.Gln655Pro)
|
rs923514393
|
0.00003
|
NM_001384732.1(CPLANE1):c.2428T>G (p.Cys810Gly)
|
rs886060581
|
0.00003
|
NM_001384732.1(CPLANE1):c.2902C>T (p.Pro968Ser)
|
rs980413221
|
0.00003
|
NM_001384732.1(CPLANE1):c.3364G>A (p.Asp1122Asn)
|
rs775457117
|
0.00003
|
NM_001384732.1(CPLANE1):c.4055T>C (p.Ile1352Thr)
|
rs759005825
|
0.00003
|
NM_001384732.1(CPLANE1):c.4156C>T (p.Leu1386Phe)
|
rs769304117
|
0.00003
|
NM_001384732.1(CPLANE1):c.4678T>C (p.Tyr1560His)
|
rs772945484
|
0.00003
|
NM_001384732.1(CPLANE1):c.6538C>G (p.Gln2180Glu)
|
rs138088605
|
0.00003
|
NM_001384732.1(CPLANE1):c.8432C>T (p.Ala2811Val)
|
rs140657139
|
0.00003
|
NM_001384732.1(CPLANE1):c.8594G>A (p.Ser2865Asn)
|
rs752341833
|
0.00003
|
NM_001384732.1(CPLANE1):c.9227G>A (p.Gly3076Glu)
|
rs376064818
|
0.00003
|
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
|
rs763219658
|
0.00003
|
NM_006642.5(SDCCAG8):c.1373G>A (p.Arg458His)
|
rs748784645
|
0.00003
|
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro)
|
rs541533278
|
0.00003
|
NM_006642.5(SDCCAG8):c.842G>A (p.Gly281Asp)
|
rs765751496
|
0.00003
|
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser)
|
rs182015909
|
0.00003
|
NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys)
|
rs754554333
|
0.00003
|
NM_012210.4(TRIM32):c.133C>T (p.Arg45Cys)
|
rs753738560
|
0.00003
|
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu)
|
rs752860146
|
0.00003
|
NM_012210.4(TRIM32):c.206G>A (p.Arg69His)
|
rs11556350
|
0.00003
|
NM_012210.4(TRIM32):c.434G>A (p.Arg145Gln)
|
rs753519978
|
0.00003
|
NM_012210.4(TRIM32):c.488T>C (p.Leu163Pro)
|
rs775940650
|
0.00003
|
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)
|
rs764912104
|
0.00003
|
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met)
|
rs764537319
|
0.00003
|
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln)
|
rs373111085
|
0.00003
|
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser)
|
rs778960409
|
0.00003
|
NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg)
|
rs769632242
|
0.00003
|
NM_014714.4(IFT140):c.2138G>A (p.Arg713Gln)
|
rs200440483
|
0.00003
|
NM_014714.4(IFT140):c.2425C>T (p.Arg809Cys)
|
rs755748472
|
0.00003
|
NM_014714.4(IFT140):c.2717G>A (p.Arg906His)
|
rs754338217
|
0.00003
|
NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg)
|
rs201100248
|
0.00003
|
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn)
|
rs568921640
|
0.00003
|
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp)
|
rs141818893
|
0.00003
|
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu)
|
rs952706482
|
0.00003
|
NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala)
|
rs149521576
|
0.00003
|
NM_014714.4(IFT140):c.4041-5G>A
|
rs754813435
|
0.00003
|
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr)
|
rs145551546
|
0.00003
|
NM_014956.5(CEP164):c.1203A>G (p.Ile401Met)
|
rs202080477
|
0.00003
|
NM_014956.5(CEP164):c.3278+5_3278+8del
|
rs929035130
|
0.00003
|
NM_014956.5(CEP164):c.337A>G (p.Lys113Glu)
|
rs75301270
|
0.00003
|
NM_014956.5(CEP164):c.4123C>G (p.Pro1375Ala)
|
rs757246851
|
0.00003
|
NM_014956.5(CEP164):c.765+3A>T
|
rs1256710112
|
0.00003
|
NM_014956.5(CEP164):c.832C>T (p.Pro278Ser)
|
rs767609128
|
0.00003
|
NM_014956.5(CEP164):c.833C>G (p.Pro278Arg)
|
rs376214075
|
0.00003
|
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)
|
rs367686843
|
0.00003
|
NM_015102.5(NPHP4):c.143T>C (p.Leu48Pro)
|
rs374239338
|
0.00003
|
NM_015102.5(NPHP4):c.2032G>A (p.Ala678Thr)
|
rs368101076
|
0.00003
|
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys)
|
rs770004315
|
0.00003
|
NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp)
|
rs1233207932
|
0.00003
|
NM_015102.5(NPHP4):c.2527C>G (p.Pro843Ala)
|
rs775263560
|
0.00003
|
NM_015102.5(NPHP4):c.2620G>A (p.Val874Met)
|
rs1412960310
|
0.00003
|
NM_015102.5(NPHP4):c.3268G>A (p.Ala1090Thr)
|
rs573269001
|
0.00003
|
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=)
|
rs371527260
|
0.00003
|
NM_015102.5(NPHP4):c.3452C>T (p.Pro1151Leu)
|
rs549077156
|
0.00003
|
NM_015102.5(NPHP4):c.3555T>A (p.Asn1185Lys)
|
rs753555544
|
0.00003
|
NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln)
|
rs539967736
|
0.00003
|
NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu)
|
rs199625626
|
0.00003
|
NM_015102.5(NPHP4):c.3882G>T (p.Arg1294Ser)
|
rs367814493
|
0.00003
|
NM_015102.5(NPHP4):c.3961G>A (p.Val1321Met)
|
rs372485746
|
0.00003
|
NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln)
|
rs766202367
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg)
|
rs750446830
|
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.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.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.854T>C (p.Met285Thr)
|
rs772520453
|
0.00003
|
NM_015512.5(DNAH1):c.475C>T (p.Arg159Trp)
|
rs561508479
|
0.00003
|
NM_015662.3(IFT172):c.2681G>A (p.Arg894His)
|
rs561927411
|
0.00003
|
NM_015662.3(IFT172):c.2744A>G (p.Tyr915Cys)
|
rs749474609
|
0.00003
|
NM_015662.3(IFT172):c.3030C>A (p.His1010Gln)
|
rs201607202
|
0.00003
|
NM_015662.3(IFT172):c.357A>G (p.Gln119=)
|
rs749934202
|
0.00003
|
NM_015662.3(IFT172):c.707G>A (p.Arg236His)
|
rs768290728
|
0.00003
|
NM_015662.3(IFT172):c.986C>T (p.Thr329Met)
|
rs568736482
|
0.00003
|
NM_015910.7(WDPCP):c.1492T>G (p.Cys498Gly)
|
rs758621800
|
0.00003
|
NM_015910.7(WDPCP):c.1799G>A (p.Arg600His)
|
rs375036014
|
0.00003
|
NM_015910.7(WDPCP):c.286C>T (p.Arg96Cys)
|
rs375338402
|
0.00003
|
NM_015910.7(WDPCP):c.691A>G (p.Ile231Val)
|
rs769180655
|
0.00003
|
NM_015910.7(WDPCP):c.841C>T (p.Arg281Cys)
|
rs747564290
|
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_017802.4(DNAAF5):c.1027C>T (p.Arg343Cys)
|
rs773921234
|
0.00003
|
NM_017802.4(DNAAF5):c.1714G>A (p.Ala572Thr)
|
rs534027051
|
0.00003
|
NM_017802.4(DNAAF5):c.1856C>T (p.Pro619Leu)
|
rs755871359
|
0.00003
|
NM_017802.4(DNAAF5):c.802G>A (p.Val268Met)
|
rs370267615
|
0.00003
|
NM_018718.3(CEP41):c.725G>A (p.Arg242His)
|
rs191246968
|
0.00003
|
NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp)
|
rs374152018
|
0.00003
|
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe)
|
rs761389658
|
0.00003
|
NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn)
|
rs761171314
|
0.00003
|
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr)
|
rs765960634
|
0.00003
|
NM_024649.5(BBS1):c.726G>A (p.Met242Ile)
|
rs773588060
|
0.00003
|
NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu)
|
rs767572725
|
0.00003
|
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)
|
rs375746803
|
0.00003
|
NM_024685.4(BBS10):c.1A>G (p.Met1Val)
|
rs752145803
|
0.00003
|
NM_024753.5(TTC21B):c.1798G>T (p.Ala600Ser)
|
rs369672356
|
0.00003
|
NM_024753.5(TTC21B):c.2165C>G (p.Pro722Arg)
|
rs760571843
|
0.00003
|
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln)
|
rs151309609
|
0.00003
|
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His)
|
rs752147287
|
0.00003
|
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln)
|
rs747246700
|
0.00003
|
NM_024753.5(TTC21B):c.2966T>C (p.Leu989Ser)
|
rs552766355
|
0.00003
|
NM_024753.5(TTC21B):c.3264-3C>G
|
rs189122492
|
0.00003
|
NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys)
|
rs200605660
|
0.00003
|
NM_024753.5(TTC21B):c.62A>G (p.His21Arg)
|
rs757283243
|
0.00003
|
NM_025114.4(CEP290):c.1359G>A (p.Ser453=)
|
rs779195306
|
0.00003
|
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile)
|
rs558414868
|
0.00003
|
NM_025114.4(CEP290):c.2447G>A (p.Arg816His)
|
rs768448895
|
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.4121A>G (p.Tyr1374Cys)
|
rs1337676817
|
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.5552A>T (p.Lys1851Ile)
|
rs372565248
|
0.00003
|
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu)
|
rs371737956
|
0.00003
|
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly)
|
rs759725378
|
0.00003
|
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg)
|
rs773773910
|
0.00003
|
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr)
|
rs752803760
|
0.00003
|
NM_025132.4(WDR19):c.1430G>A (p.Arg477His)
|
rs371117988
|
0.00003
|
NM_025132.4(WDR19):c.2087G>A (p.Arg696His)
|
rs747881116
|
0.00003
|
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr)
|
rs1057523257
|
0.00003
|
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met)
|
rs529745222
|
0.00003
|
NM_025132.4(WDR19):c.778C>T (p.His260Tyr)
|
rs754678482
|
0.00003
|
NM_031427.4(DNAL1):c.81G>C (p.Glu27Asp)
|
rs774964160
|
0.00003
|
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp)
|
rs143607562
|
0.00003
|
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser)
|
rs761864599
|
0.00003
|
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp)
|
rs1175381219
|
0.00003
|
NM_031885.5(BBS2):c.1928G>A (p.Arg643His)
|
rs532361142
|
0.00003
|
NM_031885.5(BBS2):c.380C>G (p.Thr127Arg)
|
rs1191790453
|
0.00003
|
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
|
rs764600063
|
0.00003
|
NM_033028.5(BBS4):c.-3A>G
|
rs771900208
|
0.00003
|
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)
|
rs969384648
|
0.00003
|
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser)
|
rs751716258
|
0.00003
|
NM_033028.5(BBS4):c.233G>A (p.Arg78His)
|
rs200396355
|
0.00003
|
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly)
|
rs749721461
|
0.00003
|
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp)
|
rs776830520
|
0.00003
|
NM_152384.3(BBS5):c.110T>C (p.Ile37Thr)
|
rs370849006
|
0.00003
|
NM_152384.3(BBS5):c.668A>T (p.Glu223Val)
|
rs775524491
|
0.00003
|
NM_152618.3(BBS12):c.1913A>G (p.Asn638Ser)
|
rs931117746
|
0.00003
|
NM_153240.5(NPHP3):c.188G>A (p.Gly63Glu)
|
rs763699273
|
0.00003
|
NM_153240.5(NPHP3):c.2080A>G (p.Lys694Glu)
|
rs374742856
|
0.00003
|
NM_153240.5(NPHP3):c.2170C>T (p.Arg724Cys)
|
rs542131508
|
0.00003
|
NM_153240.5(NPHP3):c.2311A>G (p.Ile771Val)
|
rs1011685228
|
0.00003
|
NM_153240.5(NPHP3):c.2531A>G (p.Tyr844Cys)
|
rs752254827
|
0.00003
|
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=)
|
rs769832219
|
0.00003
|
NM_153240.5(NPHP3):c.3649A>C (p.Ser1217Arg)
|
rs540287231
|
0.00003
|
NM_153240.5(NPHP3):c.3901A>C (p.Lys1301Gln)
|
rs769027723
|
0.00003
|
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr)
|
rs758803102
|
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.87C>A (p.Phe29Leu)
|
rs766782158
|
0.00003
|
NM_170784.3(MKKS):c.1067G>T (p.Gly356Val)
|
rs745728640
|
0.00003
|
NM_170784.3(MKKS):c.464G>A (p.Arg155His)
|
rs138111422
|
0.00003
|
NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp)
|
rs768987725
|
0.00003
|
NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser)
|
rs771957843
|
0.00003
|
NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe)
|
rs764463463
|
0.00003
|
NM_178452.6(DNAAF1):c.1853G>A (p.Arg618Gln)
|
rs372901697
|
0.00003
|
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala)
|
rs369146555
|
0.00003
|
NM_198428.3(BBS9):c.1801A>G (p.Ile601Val)
|
rs377588119
|
0.00003
|
NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile)
|
rs749948775
|
0.00003
|
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu)
|
rs757754301
|
0.00003
|
NM_001023570.4(IQCB1):c.1003A>G (p.Met335Val)
|
rs143553764
|
0.00002
|
NM_001023570.4(IQCB1):c.1046A>G (p.Lys349Arg)
|
rs200158965
|
0.00002
|
NM_001023570.4(IQCB1):c.1271A>G (p.Gln424Arg)
|
rs545361604
|
0.00002
|
NM_001023570.4(IQCB1):c.1334G>A (p.Arg445Gln)
|
rs377265463
|
0.00002
|
NM_001023570.4(IQCB1):c.1741G>C (p.Asp581His)
|
rs1283756243
|
0.00002
|
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu)
|
rs760296374
|
0.00002
|
NM_001023570.4(IQCB1):c.884A>G (p.His295Arg)
|
rs377524012
|
0.00002
|
NM_001102564.3(IFT43):c.296-5681A>G
|
rs755977535
|
0.00002
|
NM_001102564.3(IFT43):c.398G>A (p.Arg133His)
|
rs755396441
|
0.00002
|
NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp)
|
rs1483926431
|
0.00002
|
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly)
|
rs755592231
|
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.872G>A (p.Arg291Gln)
|
rs751387472
|
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.2267G>C (p.Gly756Ala)
|
rs372012542
|
0.00002
|
NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln)
|
rs775785006
|
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.3588G>A (p.Glu1196=)
|
rs201791936
|
0.00002
|
NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu)
|
rs773359044
|
0.00002
|
NM_001195305.3(BBIP1):c.37+3A>T
|
rs1247299009
|
0.00002
|
NM_001199397.3(NEK1):c.2361G>A (p.Lys787=)
|
rs886042457
|
0.00002
|
NM_001277115.2(DNAH11):c.6295G>A (p.Asp2099Asn)
|
rs750251384
|
0.00002
|
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp)
|
rs535366955
|
0.00002
|
NM_001369.3(DNAH5):c.4556T>A (p.Ile1519Asn)
|
rs371453794
|
0.00002
|
NM_001369.3(DNAH5):c.5663C>T (p.Thr1888Ile)
|
rs777579934
|
0.00002
|
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr)
|
rs763306448
|
0.00002
|
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg)
|
rs753393562
|
0.00002
|
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln)
|
rs148044176
|
0.00002
|
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys)
|
rs565098671
|
0.00002
|
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr)
|
rs199872225
|
0.00002
|
NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly)
|
rs761174114
|
0.00002
|
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr)
|
rs45630562
|
0.00002
|
NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val)
|
rs377523400
|
0.00002
|
NM_001378454.1(ALMS1):c.12040C>T (p.Arg4014Trp)
|
rs543346172
|
0.00002
|
NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His)
|
rs751862434
|
0.00002
|
NM_001378454.1(ALMS1):c.12363-12G>A
|
rs749504196
|
0.00002
|
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter)
|
rs192496253
|
0.00002
|
NM_001378454.1(ALMS1):c.12473A>G (p.Asn4158Ser)
|
rs752828644
|
0.00002
|
NM_001378454.1(ALMS1):c.1252A>G (p.Lys418Glu)
|
rs760066942
|
0.00002
|
NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile)
|
rs772068213
|
0.00002
|
NM_001378454.1(ALMS1):c.176A>T (p.His59Leu)
|
rs772683919
|
0.00002
|
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg)
|
rs372717861
|
0.00002
|
NM_001378454.1(ALMS1):c.2753C>G (p.Ser918Cys)
|
rs369228801
|
0.00002
|
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser)
|
rs767103091
|
0.00002
|
NM_001378454.1(ALMS1):c.3545C>T (p.Thr1182Ile)
|
rs778965893
|
0.00002
|
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr)
|
rs373835067
|
0.00002
|
NM_001378454.1(ALMS1):c.4829T>C (p.Ile1610Thr)
|
rs757356524
|
0.00002
|
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser)
|
rs370735089
|
0.00002
|
NM_001378454.1(ALMS1):c.5694T>A (p.Asn1898Lys)
|
rs1317035563
|
0.00002
|
NM_001378454.1(ALMS1):c.5860G>A (p.Glu1954Lys)
|
rs1313974028
|
0.00002
|
NM_001378454.1(ALMS1):c.7493A>T (p.Glu2498Val)
|
rs1164499906
|
0.00002
|
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu)
|
rs996036496
|
0.00002
|
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=)
|
rs775482774
|
0.00002
|
NM_001378454.1(ALMS1):c.8861A>G (p.Asp2954Gly)
|
rs751940353
|
0.00002
|
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu)
|
rs781477502
|
0.00002
|
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu)
|
rs368970124
|
0.00002
|
NM_001378454.1(ALMS1):c.9722C>A (p.Pro3241His)
|
rs770579229
|
0.00002
|
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser)
|
rs775666186
|
0.00002
|
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)
|
rs1718235188
|
0.00002
|
NM_001384732.1(CPLANE1):c.1348T>G (p.Tyr450Asp)
|
rs1204605921
|
0.00002
|
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe)
|
rs372187548
|
0.00002
|
NM_001384732.1(CPLANE1):c.2354G>A (p.Arg785Gln)
|
rs535811932
|
0.00002
|
NM_001384732.1(CPLANE1):c.5066A>G (p.Gln1689Arg)
|
rs761691903
|
0.00002
|
NM_001384732.1(CPLANE1):c.5960C>T (p.Thr1987Met)
|
rs141126113
|
0.00002
|
NM_001384732.1(CPLANE1):c.6511C>T (p.Arg2171Trp)
|
rs371324866
|
0.00002
|
NM_001384732.1(CPLANE1):c.6734G>T (p.Ser2245Ile)
|
rs750897841
|
0.00002
|
NM_001384732.1(CPLANE1):c.7079C>T (p.Pro2360Leu)
|
rs779569678
|
0.00002
|
NM_001384732.1(CPLANE1):c.7562C>G (p.Pro2521Arg)
|
rs922260468
|
0.00002
|
NM_001384732.1(CPLANE1):c.8791A>G (p.Arg2931Gly)
|
rs953624404
|
0.00002
|
NM_001384732.1(CPLANE1):c.8828C>T (p.Thr2943Ile)
|
rs778535345
|
0.00002
|
NM_001384732.1(CPLANE1):c.8894A>G (p.Tyr2965Cys)
|
rs374005945
|
0.00002
|
NM_001384732.1(CPLANE1):c.9574C>G (p.Leu3192Val)
|
rs886060572
|
0.00002
|
NM_003114.5(SPAG1):c.1730G>A (p.Arg577Gln)
|
rs774918839
|
0.00002
|
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys)
|
rs758712291
|
0.00002
|
NM_003611.3(OFD1):c.2022C>A (p.His674Gln)
|
rs759693810
|
0.00002
|
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp)
|
rs776834508
|
0.00002
|
NM_003611.3(OFD1):c.730A>G (p.Met244Val)
|
rs770614769
|
0.00002
|
NM_004311.4(ARL3):c.472T>G (p.Cys158Gly)
|
rs778332463
|
0.00002
|
NM_006642.5(SDCCAG8):c.1643G>C (p.Ser548Thr)
|
rs775898129
|
0.00002
|
NM_006642.5(SDCCAG8):c.718G>A (p.Glu240Lys)
|
rs774139674
|
0.00002
|
NM_006642.5(SDCCAG8):c.918A>C (p.Glu306Asp)
|
rs770183847
|
0.00002
|
NM_012210.4(TRIM32):c.1046C>G (p.Ala349Gly)
|
rs774316527
|
0.00002
|
NM_012210.4(TRIM32):c.1579G>A (p.Val527Ile)
|
rs368901621
|
0.00002
|
NM_012210.4(TRIM32):c.314G>A (p.Arg105Gln)
|
rs949658602
|
0.00002
|
NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln)
|
rs552938001
|
0.00002
|
NM_012210.4(TRIM32):c.896G>A (p.Arg299Gln)
|
rs766439806
|
0.00002
|
NM_014714.4(IFT140):c.127G>A (p.Val43Met)
|
rs150649451
|
0.00002
|
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr)
|
rs373106880
|
0.00002
|
NM_014714.4(IFT140):c.2200-20A>G
|
rs760501465
|
0.00002
|
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly)
|
rs758544371
|
0.00002
|
NM_014714.4(IFT140):c.2701C>T (p.Arg901Cys)
|
rs778004145
|
0.00002
|
NM_014714.4(IFT140):c.2702G>A (p.Arg901His)
|
rs374245105
|
0.00002
|
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser)
|
rs763140298
|
0.00002
|
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met)
|
rs764946729
|
0.00002
|
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu)
|
rs542803163
|
0.00002
|
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)
|
rs147292597
|
0.00002
|
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val)
|
rs369161842
|
0.00002
|
NM_014714.4(IFT140):c.3875T>C (p.Val1292Ala)
|
rs138311751
|
0.00002
|
NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys)
|
rs756142477
|
0.00002
|
NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met)
|
rs557586568
|
0.00002
|
NM_014714.4(IFT140):c.773C>T (p.Thr258Met)
|
rs140020318
|
0.00002
|
NM_014956.5(CEP164):c.1001C>G (p.Pro334Arg)
|
rs2042173742
|
0.00002
|
NM_014956.5(CEP164):c.1493C>T (p.Pro498Leu)
|
rs773140295
|
0.00002
|
NM_014956.5(CEP164):c.2362-14G>A
|
rs1035815151
|
0.00002
|
NM_014956.5(CEP164):c.2464T>G (p.Ser822Ala)
|
rs750842640
|
0.00002
|
NM_014956.5(CEP164):c.3609+3G>A
|
rs148009946
|
0.00002
|
NM_015102.5(NPHP4):c.109T>C (p.Trp37Arg)
|
rs770741381
|
0.00002
|
NM_015102.5(NPHP4):c.1343C>T (p.Ser448Leu)
|
rs367909950
|
0.00002
|
NM_015102.5(NPHP4):c.1418G>T (p.Arg473Met)
|
rs754829412
|
0.00002
|
NM_015102.5(NPHP4):c.1585G>A (p.Gly529Ser)
|
rs750626428
|
0.00002
|
NM_015102.5(NPHP4):c.2006C>T (p.Thr669Ile)
|
rs368327650
|
0.00002
|
NM_015102.5(NPHP4):c.2116G>T (p.Val706Leu)
|
rs755418982
|
0.00002
|
NM_015102.5(NPHP4):c.2304+6G>A
|
rs751418752
|
0.00002
|
NM_015102.5(NPHP4):c.2444C>T (p.Ser815Leu)
|
rs202165848
|
0.00002
|
NM_015102.5(NPHP4):c.2686C>T (p.Arg896Trp)
|
rs754364004
|
0.00002
|
NM_015102.5(NPHP4):c.2740C>T (p.Arg914Cys)
|
rs373603595
|
0.00002
|
NM_015102.5(NPHP4):c.2956G>A (p.Gly986Arg)
|
rs370946873
|
0.00002
|
NM_015102.5(NPHP4):c.2998A>G (p.Asn1000Asp)
|
rs766073255
|
0.00002
|
NM_015102.5(NPHP4):c.3032A>G (p.Asn1011Ser)
|
rs369529384
|
0.00002
|
NM_015102.5(NPHP4):c.3241G>C (p.Gly1081Arg)
|
rs373981841
|
0.00002
|
NM_015102.5(NPHP4):c.3335G>A (p.Gly1112Asp)
|
rs755637892
|
0.00002
|
NM_015102.5(NPHP4):c.3630T>G (p.Phe1210Leu)
|
rs758458943
|
0.00002
|
NM_015102.5(NPHP4):c.3649C>T (p.Arg1217Cys)
|
rs751325206
|
0.00002
|
NM_015102.5(NPHP4):c.3659C>T (p.Ala1220Val)
|
rs758049366
|
0.00002
|
NM_015102.5(NPHP4):c.3664C>G (p.Pro1222Ala)
|
rs1038494626
|
0.00002
|
NM_015102.5(NPHP4):c.3724G>A (p.Ala1242Thr)
|
rs370942610
|
0.00002
|
NM_015102.5(NPHP4):c.3816+5G>A
|
rs971158630
|
0.00002
|
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu)
|
rs779760001
|
0.00002
|
NM_015102.5(NPHP4):c.845T>A (p.Ile282Asn)
|
rs753652250
|
0.00002
|
NM_015102.5(NPHP4):c.910G>A (p.Val304Ile)
|
rs571395593
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His)
|
rs371028848
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)
|
rs201131571
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn)
|
rs759934290
|
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.3707G>A (p.Arg1236His)
|
rs1410635948
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3835+3A>G
|
rs769218955
|
0.00002
|
NM_015662.3(IFT172):c.1005+10A>T
|
rs771534291
|
0.00002
|
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser)
|
rs962054597
|
0.00002
|
NM_015662.3(IFT172):c.1367A>T (p.Asn456Ile)
|
rs528303561
|
0.00002
|
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn)
|
rs747544155
|
0.00002
|
NM_015662.3(IFT172):c.1973G>A (p.Arg658Gln)
|
rs376890875
|
0.00002
|
NM_015662.3(IFT172):c.1997T>C (p.Ile666Thr)
|
rs777173046
|
0.00002
|
NM_015662.3(IFT172):c.2176G>A (p.Ala726Thr)
|
rs188779949
|
0.00002
|
NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp)
|
rs773174861
|
0.00002
|
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys)
|
rs1036729851
|
0.00002
|
NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp)
|
rs745644146
|
0.00002
|
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala)
|
rs138139922
|
0.00002
|
NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys)
|
rs375755957
|
0.00002
|
NM_015662.3(IFT172):c.3989G>A (p.Arg1330His)
|
rs202236985
|
0.00002
|
NM_015662.3(IFT172):c.403-16A>G
|
rs367657817
|
0.00002
|
NM_015662.3(IFT172):c.406C>T (p.Arg136Cys)
|
rs753783467
|
0.00002
|
NM_015662.3(IFT172):c.412G>A (p.Ala138Thr)
|
rs1461000488
|
0.00002
|
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala)
|
rs769170592
|
0.00002
|
NM_015662.3(IFT172):c.529G>A (p.Val177Ile)
|
rs754880269
|
0.00002
|
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp)
|
rs772012378
|
0.00002
|
NM_015896.4(ZMYND10):c.235G>A (p.Glu79Lys)
|
rs760700286
|
0.00002
|
NM_015910.7(WDPCP):c.1784T>A (p.Val595Asp)
|
rs761696659
|
0.00002
|
NM_015910.7(WDPCP):c.208+6G>T
|
rs775227440
|
0.00002
|
NM_015910.7(WDPCP):c.334C>G (p.Gln112Glu)
|
rs758543575
|
0.00002
|
NM_015910.7(WDPCP):c.771T>A (p.Ser257=)
|
rs764847886
|
0.00002
|
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)
|
rs746322193
|
0.00002
|
NM_016616.5(NME8):c.1684A>G (p.Lys562Glu)
|
rs370146151
|
0.00002
|
NM_017950.4(CCDC40):c.962G>A (p.Arg321Gln)
|
rs114740534
|
0.00002
|
NM_020347.4(LZTFL1):c.812A>G (p.Tyr271Cys)
|
rs1422916311
|
0.00002
|
NM_020347.4(LZTFL1):c.815G>A (p.Arg272Gln)
|
rs185326114
|
0.00002
|
NM_020779.4(WDR35):c.1435A>G (p.Met479Val)
|
rs797046099
|
0.00002
|
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)
|
rs758139447
|
0.00002
|
NM_024649.5(BBS1):c.1175C>A (p.Thr392Asn)
|
rs775513593
|
0.00002
|
NM_024649.5(BBS1):c.1474G>T (p.Val492Phe)
|
rs747604822
|
0.00002
|
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys)
|
rs184614863
|
0.00002
|
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg)
|
rs1355873337
|
0.00002
|
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser)
|
rs190513580
|
0.00002
|
NM_024649.5(BBS1):c.43G>A (p.Glu15Lys)
|
rs761601575
|
0.00002
|
NM_024649.5(BBS1):c.725T>C (p.Met242Thr)
|
rs771506842
|
0.00002
|
NM_024649.5(BBS1):c.808G>A (p.Gly270Arg)
|
rs754465006
|
0.00002
|
NM_024649.5(BBS1):c.877G>A (p.Val293Met)
|
rs769422545
|
0.00002
|
NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser)
|
rs770239827
|
0.00002
|
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu)
|
rs762432475
|
0.00002
|
NM_024685.4(BBS10):c.559C>A (p.His187Asn)
|
rs753964273
|
0.00002
|
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu)
|
rs776138424
|
0.00002
|
NM_024753.5(TTC21B):c.1357A>G (p.Met453Val)
|
rs754773733
|
0.00002
|
NM_024753.5(TTC21B):c.176A>C (p.Glu59Ala)
|
rs769276420
|
0.00002
|
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His)
|
rs141708554
|
0.00002
|
NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys)
|
rs760729865
|
0.00002
|
NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val)
|
rs367564721
|
0.00002
|
NM_024753.5(TTC21B):c.3572T>C (p.Ile1191Thr)
|
rs776721597
|
0.00002
|
NM_024753.5(TTC21B):c.3617T>C (p.Ile1206Thr)
|
rs374240595
|
0.00002
|
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser)
|
rs189519760
|
0.00002
|
NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys)
|
rs1372232699
|
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.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.4030-14A>G
|
rs910563325
|
0.00002
|
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
|
rs761763799
|
0.00002
|
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp)
|
rs769798212
|
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_025132.4(WDR19):c.1486G>A (p.Val496Ile)
|
rs1482640692
|
0.00002
|
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys)
|
rs769807270
|
0.00002
|
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu)
|
rs766029437
|
0.00002
|
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg)
|
rs376471437
|
0.00002
|
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=)
|
rs763555032
|
0.00002
|
NM_025132.4(WDR19):c.512C>T (p.Thr171Met)
|
rs777646123
|
0.00002
|
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)
|
rs768699088
|
0.00002
|
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe)
|
rs1428784861
|
0.00002
|
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val)
|
rs145757541
|
0.00002
|
NM_031885.5(BBS2):c.1713G>A (p.Met571Ile)
|
rs755329143
|
0.00002
|
NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg)
|
rs149473225
|
0.00002
|
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys)
|
rs200021475
|
0.00002
|
NM_033028.4(BBS4):c.-44G>C
|
rs886051465
|
0.00002
|
NM_033028.5(BBS4):c.153C>T (p.Cys51=)
|
rs754709708
|
0.00002
|
NM_033028.5(BBS4):c.799C>G (p.Pro267Ala)
|
rs775034843
|
0.00002
|
NM_052844.4(DYNC2I2):c.1174G>A (p.Gly392Ser)
|
rs140484655
|
0.00002
|
NM_130810.4(DNAAF4):c.246G>C (p.Met82Ile)
|
rs1028632064
|
0.00002
|
NM_144596.4(TTC8):c.43T>C (p.Phe15Leu)
|
rs1379428942
|
0.00002
|
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys)
|
rs1018209116
|
0.00002
|
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe)
|
rs774379732
|
0.00002
|
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr)
|
rs568563702
|
0.00002
|
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp)
|
rs368371226
|
0.00002
|
NM_152618.3(BBS12):c.166C>T (p.Leu56Phe)
|
rs751515113
|
0.00002
|
NM_152618.3(BBS12):c.2021G>A (p.Arg674His)
|
rs766952842
|
0.00002
|
NM_153240.5(NPHP3):c.1141G>A (p.Glu381Lys)
|
rs748615630
|
0.00002
|
NM_153240.5(NPHP3):c.2109C>G (p.His703Gln)
|
rs765177103
|
0.00002
|
NM_153240.5(NPHP3):c.3039A>C (p.Glu1013Asp)
|
rs941727035
|
0.00002
|
NM_153240.5(NPHP3):c.3205G>A (p.Gly1069Arg)
|
rs752118322
|
0.00002
|
NM_153240.5(NPHP3):c.3311A>G (p.Tyr1104Cys)
|
rs571618016
|
0.00002
|
NM_153240.5(NPHP3):c.3374G>A (p.Arg1125Gln)
|
rs767752387
|
0.00002
|
NM_153240.5(NPHP3):c.3521C>T (p.Pro1174Leu)
|
rs1411458250
|
0.00002
|
NM_153240.5(NPHP3):c.3898G>A (p.Gly1300Arg)
|
rs774681590
|
0.00002
|
NM_153240.5(NPHP3):c.3907C>T (p.Pro1303Ser)
|
rs373728120
|
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.2740A>G (p.Met914Val)
|
rs758944470
|
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_170784.3(MKKS):c.1085A>G (p.His362Arg)
|
rs373858682
|
0.00002
|
NM_170784.3(MKKS):c.1282G>A (p.Asp428Asn)
|
rs779416496
|
0.00002
|
NM_170784.3(MKKS):c.1318C>G (p.Gln440Glu)
|
rs772537800
|
0.00002
|
NM_170784.3(MKKS):c.363A>C (p.Lys121Asn)
|
rs745313480
|
0.00002
|
NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys)
|
rs747889031
|
0.00002
|
NM_176824.3(BBS7):c.442A>C (p.Asn148His)
|
rs982037757
|
0.00002
|
NM_177965.4(CFAP418):c.155+12G>A
|
rs371521751
|
0.00002
|
NM_177965.4(CFAP418):c.395G>A (p.Cys132Tyr)
|
rs759733354
|
0.00002
|
NM_177965.4(CFAP418):c.530G>A (p.Arg177Gln)
|
rs748807525
|
0.00002
|
NM_178452.6(DNAAF1):c.1259C>G (p.Thr420Ser)
|
rs1165621423
|
0.00002
|
NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys)
|
rs781020567
|
0.00002
|
NM_198428.3(BBS9):c.1431G>A (p.Met477Ile)
|
rs1443035026
|
0.00002
|
NM_198428.3(BBS9):c.1741C>T (p.His581Tyr)
|
rs537110423
|
0.00002
|
NM_198428.3(BBS9):c.1798C>T (p.Arg600Cys)
|
rs775703296
|
0.00002
|
NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr)
|
rs778505224
|
0.00002
|
NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal)
|
rs752782918
|
0.00002
|
NM_198428.3(BBS9):c.2653G>T (p.Val885Phe)
|
rs950624105
|
0.00002
|
NM_198428.3(BBS9):c.335T>C (p.Leu112Ser)
|
rs904098347
|
0.00002
|
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly)
|
rs1264926096
|
0.00002
|
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp)
|
rs760548277
|
0.00001
|
NM_001023570.4(IQCB1):c.1364G>A (p.Arg455Gln)
|
rs766072332
|
0.00001
|
NM_001023570.4(IQCB1):c.1420A>G (p.Met474Val)
|
rs764720012
|
0.00001
|
NM_001023570.4(IQCB1):c.1505G>A (p.Arg502Gln)
|
rs200367729
|
0.00001
|
NM_001023570.4(IQCB1):c.1576A>C (p.Ser526Arg)
|
rs1390983530
|
0.00001
|
NM_001023570.4(IQCB1):c.157A>G (p.Ile53Val)
|
rs542335278
|
0.00001
|
NM_001023570.4(IQCB1):c.272G>A (p.Cys91Tyr)
|
rs370233738
|
0.00001
|
NM_001023570.4(IQCB1):c.532G>A (p.Val178Ile)
|
rs1272185942
|
0.00001
|
NM_001023570.4(IQCB1):c.692C>T (p.Thr231Ile)
|
rs1278873318
|
0.00001
|
NM_001023570.4(IQCB1):c.880C>G (p.Leu294Val)
|
rs756107852
|
0.00001
|
NM_001023570.4(IQCB1):c.952C>G (p.Pro318Ala)
|
rs749043070
|
0.00001
|
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln)
|
rs756786140
|
0.00001
|
NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe)
|
rs756188997
|
0.00001
|
NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys)
|
rs749145719
|
0.00001
|
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser)
|
rs1359937590
|
0.00001
|
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile)
|
rs1414874776
|
0.00001
|
NM_001102564.3(IFT43):c.485C>T (p.Ala162Val)
|
rs371422510
|
0.00001
|
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp)
|
rs141866033
|
0.00001
|
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu)
|
rs894168247
|
0.00001
|
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val)
|
rs764790125
|
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.1402G>A (p.Glu468Lys)
|
rs1186755904
|
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.1837C>T (p.Arg613Cys)
|
rs543675502
|
0.00001
|
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr)
|
rs1212945698
|
0.00001
|
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn)
|
rs781291281
|
0.00001
|
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu)
|
rs753605280
|
0.00001
|
NM_001128178.3(NPHP1):c.771+3G>A
|
rs1365022834
|
0.00001
|
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr)
|
rs751003854
|
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.1342G>A (p.Glu448Lys)
|
rs777952691
|
0.00001
|
NM_001134831.2(AHI1):c.145A>G (p.Ile49Val)
|
rs533707253
|
0.00001
|
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg)
|
rs766231229
|
0.00001
|
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys)
|
rs763970632
|
0.00001
|
NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser)
|
rs1257057591
|
0.00001
|
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala)
|
rs780154667
|
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.2638A>G (p.Met880Val)
|
rs759069413
|
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.281C>T (p.Thr94Met)
|
rs373490556
|
0.00001
|
NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg)
|
rs1183310371
|
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.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.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.878T>C (p.Met293Thr)
|
rs759553258
|
0.00001
|
NM_001195305.3(BBIP1):c.177A>T (p.Lys59Asn)
|
rs1845964280
|
0.00001
|
NM_001195305.3(BBIP1):c.50T>A (p.Ile17Lys)
|
rs879329788
|
0.00001
|
NM_001195305.3(BBIP1):c.85A>G (p.Met29Val)
|
rs964029226
|
0.00001
|
NM_001256715.2(DNAAF3):c.782T>C (p.Leu261Pro)
|
rs534298243
|
0.00001
|
NM_001256715.2(DNAAF3):c.851C>A (p.Ala284Asp)
|
rs966788457
|
0.00001
|
NM_001277115.2(DNAH11):c.11087G>A (p.Arg3696Lys)
|
rs1262229619
|
0.00001
|
NM_001277115.2(DNAH11):c.11398G>C (p.Asp3800His)
|
rs553943791
|
0.00001
|
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val)
|
rs145735492
|
0.00001
|
NM_001277115.2(DNAH11):c.13112C>T (p.Pro4371Leu)
|
rs1238638659
|
0.00001
|
NM_001277115.2(DNAH11):c.4318G>C (p.Val1440Leu)
|
rs753773546
|
0.00001
|
NM_001277115.2(DNAH11):c.5413A>G (p.Ile1805Val)
|
rs776549742
|
0.00001
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly)
|
rs770688785
|
0.00001
|
NM_001364171.2(ODAD1):c.2004dup (p.Gly669fs)
|
rs745526849
|
0.00001
|
NM_001369.3(DNAH5):c.11506G>T (p.Val3836Phe)
|
rs201068342
|
0.00001
|
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys)
|
rs752339132
|
0.00001
|
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser)
|
rs368576880
|
0.00001
|
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp)
|
rs756444637
|
0.00001
|
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser)
|
rs777962194
|
0.00001
|
NM_001377.3(DYNC2H1):c.9842T>C (p.Ile3281Thr)
|
rs1204094235
|
0.00001
|
NM_001378454.1(ALMS1):c.-20G>A
|
rs935547269
|
0.00001
|
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val)
|
rs1344858585
|
0.00001
|
NM_001378454.1(ALMS1):c.10070A>G (p.Glu3357Gly)
|
rs776497929
|
0.00001
|
NM_001378454.1(ALMS1):c.10186A>G (p.Lys3396Glu)
|
rs1473998334
|
0.00001
|
NM_001378454.1(ALMS1):c.10214A>T (p.Asp3405Val)
|
rs781411724
|
0.00001
|
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro)
|
rs955371491
|
0.00001
|
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys)
|
rs759337193
|
0.00001
|
NM_001378454.1(ALMS1):c.10433G>A (p.Arg3478Lys)
|
rs893973875
|
0.00001
|
NM_001378454.1(ALMS1):c.1052G>A (p.Arg351Gln)
|
rs563989825
|
0.00001
|
NM_001378454.1(ALMS1):c.10538A>T (p.Asp3513Val)
|
rs767343226
|
0.00001
|
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys)
|
rs761771973
|
0.00001
|
NM_001378454.1(ALMS1):c.10723G>A (p.Gly3575Arg)
|
rs752099349
|
0.00001
|
NM_001378454.1(ALMS1):c.10772C>A (p.Thr3591Lys)
|
rs773091397
|
0.00001
|
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu)
|
rs887270267
|
0.00001
|
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln)
|
rs781344338
|
0.00001
|
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu)
|
rs367877017
|
0.00001
|
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser)
|
rs376750978
|
0.00001
|
NM_001378454.1(ALMS1):c.1127C>G (p.Thr376Ser)
|
rs762682178
|
0.00001
|
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys)
|
rs1006564458
|
0.00001
|
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met)
|
rs780494417
|
0.00001
|
NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile)
|
rs376255515
|
0.00001
|
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)
|
rs767078704
|
0.00001
|
NM_001378454.1(ALMS1):c.11663A>G (p.Gln3888Arg)
|
rs1675626491
|
0.00001
|
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala)
|
rs761099182
|
0.00001
|
NM_001378454.1(ALMS1):c.11737A>C (p.Ser3913Arg)
|
rs776963509
|
0.00001
|
NM_001378454.1(ALMS1):c.11867A>T (p.His3956Leu)
|
rs553786370
|
0.00001
|
NM_001378454.1(ALMS1):c.11871A>C (p.Glu3957Asp)
|
rs1205653574
|
0.00001
|
NM_001378454.1(ALMS1):c.11929G>A (p.Val3977Met)
|
rs185423930
|
0.00001
|
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp)
|
rs199989044
|
0.00001
|
NM_001378454.1(ALMS1):c.12117A>C (p.Glu4039Asp)
|
rs1016477755
|
0.00001
|
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln)
|
rs752714698
|
0.00001
|
NM_001378454.1(ALMS1):c.12362+5G>C
|
rs771226996
|
0.00001
|
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys)
|
rs775032572
|
0.00001
|
NM_001378454.1(ALMS1):c.12466G>T (p.Val4156Leu)
|
rs779259646
|
0.00001
|
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val)
|
rs775981299
|
0.00001
|
NM_001378454.1(ALMS1):c.12G>C (p.Glu4Asp)
|
rs1260367236
|
0.00001
|
NM_001378454.1(ALMS1):c.1345A>G (p.Arg449Gly)
|
rs777458464
|
0.00001
|
NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys)
|
rs1232628050
|
0.00001
|
NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val)
|
rs1451493287
|
0.00001
|
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly)
|
rs143478466
|
0.00001
|
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn)
|
rs776932244
|
0.00001
|
NM_001378454.1(ALMS1):c.211G>A (p.Glu71Lys)
|
rs757131983
|
0.00001
|
NM_001378454.1(ALMS1):c.2155A>G (p.Arg719Gly)
|
rs1446915143
|
0.00001
|
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)
|
rs572605877
|
0.00001
|
NM_001378454.1(ALMS1):c.2191G>A (p.Ala731Thr)
|
rs1337404560
|
0.00001
|
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg)
|
rs530083993
|
0.00001
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=)
|
rs755661115
|
0.00001
|
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro)
|
rs949198387
|
0.00001
|
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser)
|
rs769538172
|
0.00001
|
NM_001378454.1(ALMS1):c.2636A>G (p.His879Arg)
|
rs1671873298
|
0.00001
|
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn)
|
rs756206965
|
0.00001
|
NM_001378454.1(ALMS1):c.2743A>G (p.Ile915Val)
|
rs200704524
|
0.00001
|
NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser)
|
rs1045405319
|
0.00001
|
NM_001378454.1(ALMS1):c.2990C>T (p.Thr997Ile)
|
rs1240072348
|
0.00001
|
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe)
|
rs574757598
|
0.00001
|
NM_001378454.1(ALMS1):c.3064G>T (p.Ala1022Ser)
|
rs1267229357
|
0.00001
|
NM_001378454.1(ALMS1):c.308G>T (p.Arg103Leu)
|
rs1574424130
|
0.00001
|
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg)
|
rs1046964700
|
0.00001
|
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser)
|
rs868703237
|
0.00001
|
NM_001378454.1(ALMS1):c.3373G>T (p.Val1125Leu)
|
rs1180431442
|
0.00001
|
NM_001378454.1(ALMS1):c.341G>T (p.Cys114Phe)
|
rs1052797474
|
0.00001
|
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr)
|
rs376302473
|
0.00001
|
NM_001378454.1(ALMS1):c.3514T>A (p.Ser1172Thr)
|
rs756748918
|
0.00001
|
NM_001378454.1(ALMS1):c.3582A>G (p.Gln1194=)
|
rs768478218
|
0.00001
|
NM_001378454.1(ALMS1):c.3605A>G (p.Tyr1202Cys)
|
rs772706904
|
0.00001
|
NM_001378454.1(ALMS1):c.365A>G (p.Tyr122Cys)
|
rs757838184
|
0.00001
|
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser)
|
rs777259139
|
0.00001
|
NM_001378454.1(ALMS1):c.3749A>G (p.Gln1250Arg)
|
rs1332453858
|
0.00001
|
NM_001378454.1(ALMS1):c.4115G>A (p.Gly1372Asp)
|
rs1439442789
|
0.00001
|
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg)
|
rs368955191
|
0.00001
|
NM_001378454.1(ALMS1):c.430C>T (p.Arg144Trp)
|
rs748293128
|
0.00001
|
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln)
|
rs768816557
|
0.00001
|
NM_001378454.1(ALMS1):c.4370T>C (p.Val1457Ala)
|
rs1671922685
|
0.00001
|
NM_001378454.1(ALMS1):c.4379G>T (p.Gly1460Val)
|
rs776345925
|
0.00001
|
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn)
|
rs757606922
|
0.00001
|
NM_001378454.1(ALMS1):c.4430C>T (p.Ser1477Leu)
|
rs794727926
|
0.00001
|
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr)
|
rs564400636
|
0.00001
|
NM_001378454.1(ALMS1):c.4516C>T (p.Pro1506Ser)
|
rs1233912426
|
0.00001
|
NM_001378454.1(ALMS1):c.4691C>G (p.Pro1564Arg)
|
rs773841585
|
0.00001
|
NM_001378454.1(ALMS1):c.485T>C (p.Met162Thr)
|
rs371903967
|
0.00001
|
NM_001378454.1(ALMS1):c.4943C>G (p.Pro1648Arg)
|
rs372540975
|
0.00001
|
NM_001378454.1(ALMS1):c.5035C>G (p.Leu1679Val)
|
rs760829019
|
0.00001
|
NM_001378454.1(ALMS1):c.5084C>T (p.Pro1695Leu)
|
rs756796770
|
0.00001
|
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly)
|
rs760638961
|
0.00001
|
NM_001378454.1(ALMS1):c.5323G>C (p.Asp1775His)
|
rs747341054
|
0.00001
|
NM_001378454.1(ALMS1):c.5348T>C (p.Leu1783Pro)
|
rs1188079304
|
0.00001
|
NM_001378454.1(ALMS1):c.5425A>G (p.Arg1809Gly)
|
rs1257660889
|
0.00001
|
NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala)
|
rs375830111
|
0.00001
|
NM_001378454.1(ALMS1):c.5615C>T (p.Thr1872Ile)
|
rs762339692
|
0.00001
|
NM_001378454.1(ALMS1):c.565T>C (p.Ser189Pro)
|
rs760035952
|
0.00001
|
NM_001378454.1(ALMS1):c.5683T>A (p.Ser1895Thr)
|
rs1288519568
|
0.00001
|
NM_001378454.1(ALMS1):c.5905C>G (p.Pro1969Ala)
|
rs552496175
|
0.00001
|
NM_001378454.1(ALMS1):c.6059C>T (p.Ser2020Leu)
|
rs372116790
|
0.00001
|
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg)
|
rs369339997
|
0.00001
|
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu)
|
rs780824087
|
0.00001
|
NM_001378454.1(ALMS1):c.6138T>G (p.Ser2046Arg)
|
rs780566681
|
0.00001
|
NM_001378454.1(ALMS1):c.6203G>C (p.Ser2068Thr)
|
rs749979595
|
0.00001
|
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu)
|
rs368833782
|
0.00001
|
NM_001378454.1(ALMS1):c.6584A>T (p.His2195Leu)
|
rs1671984408
|
0.00001
|
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln)
|
rs200979896
|
0.00001
|
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser)
|
rs866357733
|
0.00001
|
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr)
|
rs778055498
|
0.00001
|
NM_001378454.1(ALMS1):c.739A>G (p.Ser247Gly)
|
rs1055600080
|
0.00001
|
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg)
|
rs749127545
|
0.00001
|
NM_001378454.1(ALMS1):c.7426G>A (p.Val2476Ile)
|
rs772752104
|
0.00001
|
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln)
|
rs551433143
|
0.00001
|
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser)
|
rs377085127
|
0.00001
|
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr)
|
rs373385088
|
0.00001
|
NM_001378454.1(ALMS1):c.7788A>C (p.Gln2596His)
|
rs752127434
|
0.00001
|
NM_001378454.1(ALMS1):c.7840A>G (p.Arg2614Gly)
|
rs769890820
|
0.00001
|
NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu)
|
rs754078506
|
0.00001
|
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile)
|
rs1672944551
|
0.00001
|
NM_001378454.1(ALMS1):c.8140T>C (p.Ser2714Pro)
|
rs1245467740
|
0.00001
|
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly)
|
rs1255060538
|
0.00001
|
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln)
|
rs185447739
|
0.00001
|
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg)
|
rs747529881
|
0.00001
|
NM_001378454.1(ALMS1):c.9088T>G (p.Leu3030Val)
|
rs754181473
|
0.00001
|
NM_001378454.1(ALMS1):c.9109C>T (p.Pro3037Ser)
|
rs752792682
|
0.00001
|
NM_001378454.1(ALMS1):c.9143A>C (p.His3048Pro)
|
rs866416012
|
0.00001
|
NM_001378454.1(ALMS1):c.9191T>C (p.Leu3064Ser)
|
rs1434010689
|
0.00001
|
NM_001378454.1(ALMS1):c.9214G>C (p.Asp3072His)
|
rs1022898016
|
0.00001
|
NM_001378454.1(ALMS1):c.9275C>T (p.Ser3092Leu)
|
rs1394971174
|
0.00001
|
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe)
|
rs144588413
|
0.00001
|
NM_001378454.1(ALMS1):c.9397C>G (p.Pro3133Ala)
|
rs45493191
|
0.00001
|
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu)
|
rs372886271
|
0.00001
|
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val)
|
rs377600448
|
0.00001
|
NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys)
|
rs763730338
|
0.00001
|
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu)
|
rs770987613
|
0.00001
|
NM_001378454.1(ALMS1):c.9637C>G (p.Leu3213Val)
|
rs575305602
|
0.00001
|
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe)
|
rs771768835
|
0.00001
|
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp)
|
rs372873919
|
0.00001
|
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser)
|
rs1818326433
|
0.00001
|
NM_001384732.1(CPLANE1):c.1115C>T (p.Thr372Met)
|
rs1046843624
|
0.00001
|
NM_001384732.1(CPLANE1):c.1958A>G (p.Tyr653Cys)
|
rs1342297170
|
0.00001
|
NM_001384732.1(CPLANE1):c.212G>A (p.Ser71Asn)
|
rs756811653
|
0.00001
|
NM_001384732.1(CPLANE1):c.2185A>G (p.Ile729Val)
|
rs1010091096
|
0.00001
|
NM_001384732.1(CPLANE1):c.2413G>A (p.Val805Ile)
|
rs1490492363
|
0.00001
|
NM_001384732.1(CPLANE1):c.2664T>A (p.Asp888Glu)
|
rs1287231108
|
0.00001
|
NM_001384732.1(CPLANE1):c.2824A>G (p.Met942Val)
|
rs918958290
|
0.00001
|
NM_001384732.1(CPLANE1):c.2939T>C (p.Ile980Thr)
|
rs1160747089
|
0.00001
|
NM_001384732.1(CPLANE1):c.3245T>C (p.Leu1082Ser)
|
rs943993886
|
0.00001
|
NM_001384732.1(CPLANE1):c.3379T>G (p.Ser1127Ala)
|
rs776423792
|
0.00001
|
NM_001384732.1(CPLANE1):c.3415G>C (p.Asp1139His)
|
rs1789225309
|
0.00001
|
NM_001384732.1(CPLANE1):c.3557A>G (p.Lys1186Arg)
|
rs747382965
|
0.00001
|
NM_001384732.1(CPLANE1):c.364G>A (p.Val122Ile)
|
rs1404949478
|
0.00001
|
NM_001384732.1(CPLANE1):c.4175A>G (p.His1392Arg)
|
rs753392667
|
0.00001
|
NM_001384732.1(CPLANE1):c.4576G>T (p.Asp1526Tyr)
|
rs1363054900
|
0.00001
|
NM_001384732.1(CPLANE1):c.4948T>C (p.Ser1650Pro)
|
rs536461045
|
0.00001
|
NM_001384732.1(CPLANE1):c.5114T>C (p.Ile1705Thr)
|
rs1160277331
|
0.00001
|
NM_001384732.1(CPLANE1):c.5210T>C (p.Leu1737Pro)
|
rs781211084
|
0.00001
|
NM_001384732.1(CPLANE1):c.5327G>A (p.Arg1776His)
|
rs757385488
|
0.00001
|
NM_001384732.1(CPLANE1):c.5737+15A>G
|
rs1352836895
|
0.00001
|
NM_001384732.1(CPLANE1):c.5863G>C (p.Glu1955Gln)
|
rs1042774343
|
0.00001
|
NM_001384732.1(CPLANE1):c.5978+4A>G
|
rs748763785
|
0.00001
|
NM_001384732.1(CPLANE1):c.6057A>G (p.Gln2019=)
|
rs938358328
|
0.00001
|
NM_001384732.1(CPLANE1):c.6130G>A (p.Val2044Ile)
|
rs773299420
|
0.00001
|
NM_001384732.1(CPLANE1):c.6186C>A (p.Asn2062Lys)
|
rs755471609
|
0.00001
|
NM_001384732.1(CPLANE1):c.6309T>G (p.Cys2103Trp)
|
rs749862200
|
0.00001
|
NM_001384732.1(CPLANE1):c.646C>T (p.Arg216Trp)
|
rs543556323
|
0.00001
|
NM_001384732.1(CPLANE1):c.6595C>T (p.Leu2199Phe)
|
rs572837877
|
0.00001
|
NM_001384732.1(CPLANE1):c.6647C>G (p.Ala2216Gly)
|
rs749403465
|
0.00001
|
NM_001384732.1(CPLANE1):c.6724C>A (p.His2242Asn)
|
rs752372376
|
0.00001
|
NM_001384732.1(CPLANE1):c.6815C>T (p.Pro2272Leu)
|
rs777757781
|
0.00001
|
NM_001384732.1(CPLANE1):c.7478G>A (p.Arg2493Gln)
|
rs183942272
|
0.00001
|
NM_001384732.1(CPLANE1):c.7576G>A (p.Asp2526Asn)
|
rs535480596
|
0.00001
|
NM_001384732.1(CPLANE1):c.7736A>G (p.Tyr2579Cys)
|
rs771614298
|
0.00001
|
NM_001384732.1(CPLANE1):c.7789A>G (p.Ile2597Val)
|
rs774074728
|
0.00001
|
NM_001384732.1(CPLANE1):c.81G>A (p.Lys27=)
|
rs1264949337
|
0.00001
|
NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His)
|
rs761880579
|
0.00001
|
NM_001384732.1(CPLANE1):c.9146C>T (p.Thr3049Ile)
|
rs767189816
|
0.00001
|
NM_001384732.1(CPLANE1):c.9467A>G (p.Gln3156Arg)
|
rs768570313
|
0.00001
|
NM_001384732.1(CPLANE1):c.9694G>A (p.Glu3232Lys)
|
rs372215544
|
0.00001
|
NM_001481.3(GAS8):c.730A>G (p.Asn244Asp)
|
rs745989300
|
0.00001
|
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)
|
rs1454731121
|
0.00001
|
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe)
|
rs774888576
|
0.00001
|
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)
|
rs1235702491
|
0.00001
|
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg)
|
rs1158126675
|
0.00001
|
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)
|
rs778349684
|
0.00001
|
NM_003611.3(OFD1):c.935+4A>G
|
rs1243725011
|
0.00001
|
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly)
|
rs764424025
|
0.00001
|
NM_006642.5(SDCCAG8):c.1099G>A (p.Glu367Lys)
|
rs780671703
|
0.00001
|
NM_006642.5(SDCCAG8):c.115G>A (p.Gly39Ser)
|
rs756642876
|
0.00001
|
NM_006642.5(SDCCAG8):c.1163T>A (p.Ile388Asn)
|
rs377237088
|
0.00001
|
NM_006642.5(SDCCAG8):c.1175T>C (p.Met392Thr)
|
rs1041307493
|
0.00001
|
NM_006642.5(SDCCAG8):c.1210A>G (p.Met404Val)
|
rs1298150302
|
0.00001
|
NM_006642.5(SDCCAG8):c.1297A>G (p.Ile433Val)
|
rs769796315
|
0.00001
|
NM_006642.5(SDCCAG8):c.1337G>A (p.Arg446Gln)
|
rs772853104
|
0.00001
|
NM_006642.5(SDCCAG8):c.1343T>C (p.Met448Thr)
|
rs1015302300
|
0.00001
|
NM_006642.5(SDCCAG8):c.1427G>A (p.Arg476Lys)
|
rs761873846
|
0.00001
|
NM_006642.5(SDCCAG8):c.1488G>T (p.Leu496Phe)
|
rs1432354431
|
0.00001
|
NM_006642.5(SDCCAG8):c.1642A>C (p.Ser548Arg)
|
rs1388276184
|
0.00001
|
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln)
|
rs750265815
|
0.00001
|
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro)
|
rs771493123
|
0.00001
|
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)
|
rs776765317
|
0.00001
|
NM_006642.5(SDCCAG8):c.1913T>C (p.Leu638Ser)
|
rs752896885
|
0.00001
|
NM_006642.5(SDCCAG8):c.349G>A (p.Asp117Asn)
|
rs913322544
|
0.00001
|
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val)
|
rs372403021
|
0.00001
|
NM_006642.5(SDCCAG8):c.695A>C (p.Tyr232Ser)
|
rs747968552
|
0.00001
|
NM_006642.5(SDCCAG8):c.749T>C (p.Leu250Ser)
|
rs1357310997
|
0.00001
|
NM_012144.4(DNAI1):c.1736A>G (p.Tyr579Cys)
|
rs760852851
|
0.00001
|
NM_012210.4(TRIM32):c.1004G>A (p.Ser335Asn)
|
rs778321975
|
0.00001
|
NM_012210.4(TRIM32):c.1061A>G (p.Gln354Arg)
|
rs1266244841
|
0.00001
|
NM_012210.4(TRIM32):c.1115A>G (p.Asn372Ser)
|
rs781488306
|
0.00001
|
NM_012210.4(TRIM32):c.1321C>G (p.Leu441Val)
|
rs987882732
|
0.00001
|
NM_012210.4(TRIM32):c.134G>A (p.Arg45His)
|
rs143760041
|
0.00001
|
NM_012210.4(TRIM32):c.1488C>G (p.Phe496Leu)
|
rs371233848
|
0.00001
|
NM_012210.4(TRIM32):c.1618C>T (p.Arg540Trp)
|
rs147803099
|
0.00001
|
NM_012210.4(TRIM32):c.1619G>A (p.Arg540Gln)
|
rs761503419
|
0.00001
|
NM_012210.4(TRIM32):c.1954A>G (p.Thr652Ala)
|
rs763172140
|
0.00001
|
NM_012210.4(TRIM32):c.277G>A (p.Glu93Lys)
|
rs754449534
|
0.00001
|
NM_012210.4(TRIM32):c.325C>T (p.Arg109Trp)
|
rs776796546
|
0.00001
|
NM_012210.4(TRIM32):c.32T>C (p.Leu11Pro)
|
rs767818381
|
0.00001
|
NM_012210.4(TRIM32):c.377C>T (p.Ala126Val)
|
rs755478136
|
0.00001
|
NM_012210.4(TRIM32):c.430G>A (p.Glu144Lys)
|
rs760202414
|
0.00001
|
NM_012210.4(TRIM32):c.464G>A (p.Arg155His)
|
rs777914761
|
0.00001
|
NM_012210.4(TRIM32):c.493C>T (p.Arg165Trp)
|
rs1378775801
|
0.00001
|
NM_012210.4(TRIM32):c.577C>T (p.Arg193Cys)
|
rs568433214
|
0.00001
|
NM_012210.4(TRIM32):c.650A>G (p.Asn217Ser)
|
rs374248541
|
0.00001
|
NM_012210.4(TRIM32):c.688A>G (p.Ile230Val)
|
rs139113969
|
0.00001
|
NM_012210.4(TRIM32):c.69C>T (p.Cys23=)
|
rs575633576
|
0.00001
|
NM_012210.4(TRIM32):c.889A>G (p.Lys297Glu)
|
rs759742371
|
0.00001
|
NM_012210.4(TRIM32):c.938C>T (p.Ala313Val)
|
rs794727284
|
0.00001
|
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp)
|
rs754373519
|
0.00001
|
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met)
|
rs762293142
|
0.00001
|
NM_014714.4(IFT140):c.1322G>A (p.Arg441His)
|
rs776567773
|
0.00001
|
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu)
|
rs770727161
|
0.00001
|
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile)
|
rs767571875
|
0.00001
|
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile)
|
rs1321089981
|
0.00001
|
NM_014714.4(IFT140):c.1778A>C (p.Asn593Thr)
|
rs775630184
|
0.00001
|
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn)
|
rs138674110
|
0.00001
|
NM_014714.4(IFT140):c.1869G>C (p.Glu623Asp)
|
rs2033705618
|
0.00001
|
NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys)
|
rs778368172
|
0.00001
|
NM_014714.4(IFT140):c.2054G>A (p.Arg685His)
|
rs370263158
|
0.00001
|
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln)
|
rs140458893
|
0.00001
|
NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln)
|
rs536061072
|
0.00001
|
NM_014714.4(IFT140):c.2455G>A (p.Val819Met)
|
rs766515079
|
0.00001
|
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys)
|
rs754073086
|
0.00001
|
NM_014714.4(IFT140):c.2545G>A (p.Val849Met)
|
rs771662799
|
0.00001
|
NM_014714.4(IFT140):c.257C>T (p.Thr86Met)
|
rs1159315989
|
0.00001
|
NM_014714.4(IFT140):c.2690G>A (p.Arg897His)
|
rs745863942
|
0.00001
|
NM_014714.4(IFT140):c.2718C>G (p.Arg906=)
|
rs780540683
|
0.00001
|
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser)
|
rs566450108
|
0.00001
|
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys)
|
rs143720412
|
0.00001
|
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val)
|
rs745576178
|
0.00001
|
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)
|
rs766316995
|
0.00001
|
NM_014714.4(IFT140):c.298C>G (p.Leu100Val)
|
rs546498421
|
0.00001
|
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys)
|
rs777230794
|
0.00001
|
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr)
|
rs760652531
|
0.00001
|
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu)
|
rs772423904
|
0.00001
|
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln)
|
rs780533679
|
0.00001
|
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg)
|
rs754978656
|
0.00001
|
NM_014714.4(IFT140):c.3633G>C (p.Lys1211Asn)
|
rs771772194
|
0.00001
|
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp)
|
rs773768491
|
0.00001
|
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg)
|
rs755596826
|
0.00001
|
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu)
|
rs776809726
|
0.00001
|
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val)
|
rs376151586
|
0.00001
|
NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg)
|
rs907401737
|
0.00001
|
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met)
|
rs756711276
|
0.00001
|
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn)
|
rs777181948
|
0.00001
|
NM_014714.4(IFT140):c.489C>T (p.Gly163=)
|
rs776597097
|
0.00001
|
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)
|
rs555382397
|
0.00001
|
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe)
|
rs1442341163
|
0.00001
|
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)
|
rs778404277
|
0.00001
|
NM_014956.5(CEP164):c.1226A>G (p.His409Arg)
|
rs747489061
|
0.00001
|
NM_014956.5(CEP164):c.1252C>T (p.Arg418Trp)
|
rs575328059
|
0.00001
|
NM_014956.5(CEP164):c.1259C>T (p.Ser420Leu)
|
rs1324951273
|
0.00001
|
NM_014956.5(CEP164):c.1439G>A (p.Arg480Gln)
|
rs573209223
|
0.00001
|
NM_014956.5(CEP164):c.1666G>A (p.Ala556Thr)
|
rs943322658
|
0.00001
|
NM_014956.5(CEP164):c.1759C>T (p.Leu587Phe)
|
rs923498039
|
0.00001
|
NM_014956.5(CEP164):c.1904G>A (p.Arg635Gln)
|
rs763183525
|
0.00001
|
NM_014956.5(CEP164):c.1981C>T (p.Arg661Trp)
|
rs201175046
|
0.00001
|
NM_014956.5(CEP164):c.2473G>A (p.Val825Met)
|
rs373870559
|
0.00001
|
NM_014956.5(CEP164):c.2605T>C (p.Tyr869His)
|
rs774896440
|
0.00001
|
NM_014956.5(CEP164):c.2629C>T (p.Arg877Trp)
|
rs986338516
|
0.00001
|
NM_014956.5(CEP164):c.2668C>T (p.Arg890Cys)
|
rs772514202
|
0.00001
|
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp)
|
rs143446218
|
0.00001
|
NM_014956.5(CEP164):c.2906A>G (p.Lys969Arg)
|
rs1416554475
|
0.00001
|
NM_014956.5(CEP164):c.3133G>C (p.Glu1045Gln)
|
rs752093126
|
0.00001
|
NM_014956.5(CEP164):c.3254G>A (p.Ser1085Asn)
|
rs562234273
|
0.00001
|
NM_014956.5(CEP164):c.3485G>A (p.Arg1162His)
|
rs758759503
|
0.00001
|
NM_014956.5(CEP164):c.3955G>A (p.Ala1319Thr)
|
rs769207410
|
0.00001
|
NM_014956.5(CEP164):c.4081C>T (p.Arg1361Cys)
|
rs753906680
|
0.00001
|
NM_014956.5(CEP164):c.4174C>T (p.Arg1392Trp)
|
rs769676851
|
0.00001
|
NM_014956.5(CEP164):c.902G>A (p.Arg301Gln)
|
rs769627423
|
0.00001
|
NM_015102.5(NPHP4):c.1006G>C (p.Ala336Pro)
|
rs369951224
|
0.00001
|
NM_015102.5(NPHP4):c.1253C>T (p.Ser418Leu)
|
rs767476133
|
0.00001
|
NM_015102.5(NPHP4):c.1360C>T (p.His454Tyr)
|
rs374792772
|
0.00001
|
NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp)
|
rs758253306
|
0.00001
|
NM_015102.5(NPHP4):c.1406G>A (p.Arg469Gln)
|
rs1320696639
|
0.00001
|
NM_015102.5(NPHP4):c.1511T>G (p.Ile504Ser)
|
rs1209081705
|
0.00001
|
NM_015102.5(NPHP4):c.1675G>A (p.Val559Ile)
|
rs931907795
|
0.00001
|
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met)
|
rs199891059
|
0.00001
|
NM_015102.5(NPHP4):c.202C>T (p.Arg68Trp)
|
rs771873685
|
0.00001
|
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg)
|
rs200667197
|
0.00001
|
NM_015102.5(NPHP4):c.2218C>T (p.Arg740Cys)
|
rs766088144
|
0.00001
|
NM_015102.5(NPHP4):c.2237C>G (p.Thr746Ser)
|
rs780500004
|
0.00001
|
NM_015102.5(NPHP4):c.2251G>A (p.Val751Ile)
|
rs754838672
|
0.00001
|
NM_015102.5(NPHP4):c.2304+5C>T
|
rs367651042
|
0.00001
|
NM_015102.5(NPHP4):c.2314C>T (p.Arg772Cys)
|
rs149928611
|
0.00001
|
NM_015102.5(NPHP4):c.2718C>T (p.Arg906=)
|
rs576473519
|
0.00001
|
NM_015102.5(NPHP4):c.2770C>G (p.Leu924Val)
|
rs770984804
|
0.00001
|
NM_015102.5(NPHP4):c.280-5T>G
|
rs908276068
|
0.00001
|
NM_015102.5(NPHP4):c.3039G>C (p.Glu1013Asp)
|
rs747091960
|
0.00001
|
NM_015102.5(NPHP4):c.3227T>C (p.Val1076Ala)
|
rs201591531
|
0.00001
|
NM_015102.5(NPHP4):c.3404G>A (p.Arg1135His)
|
rs763251283
|
0.00001
|
NM_015102.5(NPHP4):c.3410A>G (p.Tyr1137Cys)
|
rs765444252
|
0.00001
|
NM_015102.5(NPHP4):c.3476C>T (p.Ala1159Val)
|
rs369021103
|
0.00001
|
NM_015102.5(NPHP4):c.3530C>T (p.Pro1177Leu)
|
rs749612555
|
0.00001
|
NM_015102.5(NPHP4):c.355C>T (p.Arg119Trp)
|
rs772214126
|
0.00001
|
NM_015102.5(NPHP4):c.3704G>A (p.Arg1235His)
|
rs569553635
|
0.00001
|
NM_015102.5(NPHP4):c.3816+4C>T
|
rs764632297
|
0.00001
|
NM_015102.5(NPHP4):c.3976C>T (p.Arg1326Cys)
|
rs531607950
|
0.00001
|
NM_015102.5(NPHP4):c.400C>T (p.Arg134Trp)
|
rs375476413
|
0.00001
|
NM_015102.5(NPHP4):c.4018G>A (p.Ala1340Thr)
|
rs958569972
|
0.00001
|
NM_015102.5(NPHP4):c.4220A>G (p.Tyr1407Cys)
|
rs373315843
|
0.00001
|
NM_015102.5(NPHP4):c.4239C>G (p.Asp1413Glu)
|
rs763112800
|
0.00001
|
NM_015102.5(NPHP4):c.452+3A>G
|
rs1426440104
|
0.00001
|
NM_015102.5(NPHP4):c.512C>T (p.Ala171Val)
|
rs763307389
|
0.00001
|
NM_015102.5(NPHP4):c.51C>A (p.His17Gln)
|
rs766636945
|
0.00001
|
NM_015102.5(NPHP4):c.559T>C (p.Tyr187His)
|
rs1027187670
|
0.00001
|
NM_015102.5(NPHP4):c.806A>C (p.Gln269Pro)
|
rs1182919955
|
0.00001
|
NM_015102.5(NPHP4):c.815G>A (p.Cys272Tyr)
|
rs1349348418
|
0.00001
|
NM_015102.5(NPHP4):c.821C>T (p.Pro274Leu)
|
rs752624938
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe)
|
rs747867189
|
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.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.1681C>T (p.Arg561Cys)
|
rs781713688
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu)
|
rs775017742
|
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.205C>T (p.Arg69Cys)
|
rs775007896
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His)
|
rs1338012833
|
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.2474A>G (p.His825Arg)
|
rs752772082
|
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.3116A>G (p.Gln1039Arg)
|
rs181022346
|
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.3541C>A (p.Leu1181Ile)
|
rs905516252
|
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.747G>C (p.Gln249His)
|
rs1970020650
|
0.00001
|
NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln)
|
rs916661298
|
0.00001
|
NM_015512.5(DNAH1):c.6436G>C (p.Glu2146Gln)
|
rs946605027
|
0.00001
|
NM_015512.5(DNAH1):c.9371A>G (p.Asn3124Ser)
|
rs202033408
|
0.00001
|
NM_015662.3(IFT172):c.1058A>G (p.Tyr353Cys)
|
rs749207320
|
0.00001
|
NM_015662.3(IFT172):c.1099C>T (p.Arg367Cys)
|
rs755816980
|
0.00001
|
NM_015662.3(IFT172):c.1160T>G (p.Leu387Arg)
|
rs745554539
|
0.00001
|
NM_015662.3(IFT172):c.1295G>A (p.Arg432His)
|
rs1327376049
|
0.00001
|
NM_015662.3(IFT172):c.1417C>G (p.Leu473Val)
|
rs772607856
|
0.00001
|
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)
|
rs771104054
|
0.00001
|
NM_015662.3(IFT172):c.1609G>A (p.Val537Met)
|
rs868020223
|
0.00001
|
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr)
|
rs780205001
|
0.00001
|
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln)
|
rs764302265
|
0.00001
|
NM_015662.3(IFT172):c.178A>G (p.Met60Val)
|
rs758377122
|
0.00001
|
NM_015662.3(IFT172):c.1880T>C (p.Met627Thr)
|
rs147288623
|
0.00001
|
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)
|
rs144645349
|
0.00001
|
NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys)
|
rs187728607
|
0.00001
|
NM_015662.3(IFT172):c.2221C>T (p.Arg741Cys)
|
rs984586780
|
0.00001
|
NM_015662.3(IFT172):c.2308A>G (p.Ile770Val)
|
rs145926013
|
0.00001
|
NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr)
|
rs776148073
|
0.00001
|
NM_015662.3(IFT172):c.2875A>G (p.Lys959Glu)
|
rs1271431771
|
0.00001
|
NM_015662.3(IFT172):c.2897G>C (p.Arg966Thr)
|
rs1009534874
|
0.00001
|
NM_015662.3(IFT172):c.2998C>G (p.Pro1000Ala)
|
rs569281478
|
0.00001
|
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr)
|
rs560379580
|
0.00001
|
NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp)
|
rs148997142
|
0.00001
|
NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg)
|
rs1008321384
|
0.00001
|
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)
|
rs146615936
|
0.00001
|
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp)
|
rs779395435
|
0.00001
|
NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val)
|
rs1665910456
|
0.00001
|
NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg)
|
rs765703265
|
0.00001
|
NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr)
|
rs766061673
|
0.00001
|
NM_015662.3(IFT172):c.403G>A (p.Val135Ile)
|
rs201476743
|
0.00001
|
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu)
|
rs760582917
|
0.00001
|
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala)
|
rs761701917
|
0.00001
|
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys)
|
rs764604255
|
0.00001
|
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser)
|
rs777980611
|
0.00001
|
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)
|
rs201840472
|
0.00001
|
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln)
|
rs549415233
|
0.00001
|
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln)
|
rs749884570
|
0.00001
|
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe)
|
rs917873749
|
0.00001
|
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu)
|
rs146309780
|
0.00001
|
NM_015910.7(WDPCP):c.1018G>T (p.Ala340Ser)
|
rs779714128
|
0.00001
|
NM_015910.7(WDPCP):c.1201T>G (p.Leu401Val)
|
rs1040913823
|
0.00001
|
NM_015910.7(WDPCP):c.1258C>T (p.Arg420Cys)
|
rs769165669
|
0.00001
|
NM_015910.7(WDPCP):c.1331T>G (p.Ile444Arg)
|
rs373940251
|
0.00001
|
NM_015910.7(WDPCP):c.1451G>A (p.Gly484Glu)
|
rs750245323
|
0.00001
|
NM_015910.7(WDPCP):c.1466T>C (p.Ile489Thr)
|
rs370842356
|
0.00001
|
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr)
|
rs534102944
|
0.00001
|
NM_015910.7(WDPCP):c.1687A>G (p.Ile563Val)
|
rs1168632851
|
0.00001
|
NM_015910.7(WDPCP):c.193A>G (p.Lys65Glu)
|
rs750924240
|
0.00001
|
NM_015910.7(WDPCP):c.1951A>C (p.Asn651His)
|
rs373413042
|
0.00001
|
NM_015910.7(WDPCP):c.2010C>A (p.Asn670Lys)
|
rs1242470451
|
0.00001
|
NM_015910.7(WDPCP):c.2047C>A (p.Gln683Lys)
|
rs765674630
|
0.00001
|
NM_015910.7(WDPCP):c.2190+1G>A
|
rs1671980611
|
0.00001
|
NM_015910.7(WDPCP):c.243G>T (p.Lys81Asn)
|
rs1206045016
|
0.00001
|
NM_015910.7(WDPCP):c.302G>A (p.Arg101Gln)
|
rs746158542
|
0.00001
|
NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe)
|
rs756891717
|
0.00001
|
NM_015910.7(WDPCP):c.46A>C (p.Ser16Arg)
|
rs952535961
|
0.00001
|
NM_015910.7(WDPCP):c.486C>T (p.Asp162=)
|
rs372538263
|
0.00001
|
NM_015910.7(WDPCP):c.581A>G (p.Glu194Gly)
|
rs750252971
|
0.00001
|
NM_015910.7(WDPCP):c.634A>C (p.Ile212Leu)
|
rs755148252
|
0.00001
|
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser)
|
rs761312526
|
0.00001
|
NM_015910.7(WDPCP):c.677A>T (p.Glu226Val)
|
rs774816454
|
0.00001
|
NM_015910.7(WDPCP):c.952A>G (p.Ile318Val)
|
rs747114578
|
0.00001
|
NM_015910.7(WDPCP):c.967C>T (p.Arg323Trp)
|
rs545767612
|
0.00001
|
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)
|
rs778125780
|
0.00001
|
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys)
|
rs770989077
|
0.00001
|
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly)
|
rs754930606
|
0.00001
|
NM_017802.4(DNAAF5):c.1586T>A (p.Leu529His)
|
rs368098310
|
0.00001
|
NM_017802.4(DNAAF5):c.1997C>T (p.Ala666Val)
|
rs761189541
|
0.00001
|
NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn)
|
rs202093340
|
0.00001
|
NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys)
|
rs948532763
|
0.00001
|
NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile)
|
rs775788498
|
0.00001
|
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
|
rs201504407
|
0.00001
|
NM_020347.4(LZTFL1):c.361G>A (p.Glu121Lys)
|
rs774285913
|
0.00001
|
NM_020347.4(LZTFL1):c.701A>G (p.Lys234Arg)
|
rs777788515
|
0.00001
|
NM_020347.4(LZTFL1):c.766A>G (p.Met256Val)
|
rs768813044
|
0.00001
|
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala)
|
rs758919526
|
0.00001
|
NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp)
|
rs763193003
|
0.00001
|
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp)
|
rs747656068
|
0.00001
|
NM_024649.5(BBS1):c.10G>T (p.Ala4Ser)
|
rs745375133
|
0.00001
|
NM_024649.5(BBS1):c.1144G>A (p.Gly382Arg)
|
rs377297999
|
0.00001
|
NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp)
|
rs767247916
|
0.00001
|
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)
|
rs374356964
|
0.00001
|
NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln)
|
rs779828966
|
0.00001
|
NM_024649.5(BBS1):c.1471G>A (p.Val491Met)
|
rs377469172
|
0.00001
|
NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala)
|
rs1856753561
|
0.00001
|
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu)
|
rs766602837
|
0.00001
|
NM_024649.5(BBS1):c.199C>T (p.Arg67Cys)
|
rs767385250
|
0.00001
|
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)
|
rs748946143
|
0.00001
|
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg)
|
rs774163850
|
0.00001
|
NM_024649.5(BBS1):c.595G>A (p.Val199Ile)
|
rs1300549627
|
0.00001
|
NM_024649.5(BBS1):c.602C>T (p.Thr201Ile)
|
rs1368294392
|
0.00001
|
NM_024649.5(BBS1):c.739G>A (p.Val247Ile)
|
rs763004810
|
0.00001
|
NM_024649.5(BBS1):c.742C>A (p.Pro248Thr)
|
rs544315396
|
0.00001
|
NM_024649.5(BBS1):c.772G>C (p.Asp258His)
|
rs779297419
|
0.00001
|
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys)
|
rs758489303
|
0.00001
|
NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser)
|
rs1453771610
|
0.00001
|
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly)
|
rs775747309
|
0.00001
|
NM_024685.4(BBS10):c.85G>T (p.Val29Leu)
|
rs752267054
|
0.00001
|
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly)
|
rs759385121
|
0.00001
|
NM_024753.5(TTC21B):c.1431C>G (p.Cys477Trp)
|
rs751822992
|
0.00001
|
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg)
|
rs748993825
|
0.00001
|
NM_024753.5(TTC21B):c.1609T>G (p.Leu537Val)
|
rs200916824
|
0.00001
|
NM_024753.5(TTC21B):c.1685A>G (p.Tyr562Cys)
|
rs1686220039
|
0.00001
|
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln)
|
rs377128320
|
0.00001
|
NM_024753.5(TTC21B):c.1876G>A (p.Val626Ile)
|
rs144411419
|
0.00001
|
NM_024753.5(TTC21B):c.2698T>A (p.Tyr900Asn)
|
rs1336338964
|
0.00001
|
NM_024753.5(TTC21B):c.2810G>T (p.Cys937Phe)
|
rs184561530
|
0.00001
|
NM_024753.5(TTC21B):c.2866A>G (p.Met956Val)
|
rs746138925
|
0.00001
|
NM_024753.5(TTC21B):c.2941C>T (p.Arg981Cys)
|
rs749278599
|
0.00001
|
NM_024753.5(TTC21B):c.3190A>T (p.Ile1064Leu)
|
rs1004469692
|
0.00001
|
NM_024753.5(TTC21B):c.3350A>C (p.Gln1117Pro)
|
rs148631747
|
0.00001
|
NM_024753.5(TTC21B):c.338A>G (p.His113Arg)
|
rs146865517
|
0.00001
|
NM_024753.5(TTC21B):c.3524G>A (p.Arg1175Gln)
|
rs987977269
|
0.00001
|
NM_024753.5(TTC21B):c.3545G>A (p.Arg1182His)
|
rs199658616
|
0.00001
|
NM_024753.5(TTC21B):c.3551C>T (p.Ala1184Val)
|
rs754751728
|
0.00001
|
NM_024753.5(TTC21B):c.3668G>T (p.Cys1223Phe)
|
rs1225739712
|
0.00001
|
NM_024753.5(TTC21B):c.368G>A (p.Arg123His)
|
rs370484375
|
0.00001
|
NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu)
|
rs756943619
|
0.00001
|
NM_024753.5(TTC21B):c.572G>A (p.Arg191His)
|
rs781486283
|
0.00001
|
NM_024753.5(TTC21B):c.8C>T (p.Ser3Leu)
|
rs1364155246
|
0.00001
|
NM_024753.5(TTC21B):c.914T>C (p.Ile305Thr)
|
rs1217195888
|
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.1536G>T (p.Lys512Asn)
|
rs750163383
|
0.00001
|
NM_025114.4(CEP290):c.1623+2C>A
|
rs2039218006
|
0.00001
|
NM_025114.4(CEP290):c.1711+6C>T
|
rs1285486059
|
0.00001
|
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu)
|
rs770829686
|
0.00001
|
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile)
|
rs769216455
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
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.2974A>G (p.Asn992Asp)
|
rs1265448566
|
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.3709C>T (p.Arg1237Cys)
|
rs768864296
|
0.00001
|
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly)
|
rs1342978055
|
0.00001
|
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys)
|
rs547677441
|
0.00001
|
NM_025114.4(CEP290):c.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.4302+5G>A
|
rs1013125589
|
0.00001
|
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn)
|
rs769732992
|
0.00001
|
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val)
|
rs751408783
|
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.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.5885G>A (p.Arg1962Lys)
|
rs562477272
|
0.00001
|
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala)
|
rs1354836663
|
0.00001
|
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly)
|
rs756608200
|
0.00001
|
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile)
|
rs753687613
|
0.00001
|
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser)
|
rs777841957
|
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_025132.4(WDR19):c.1093A>G (p.Thr365Ala)
|
rs745627337
|
0.00001
|
NM_025132.4(WDR19):c.1248T>C (p.Asn416=)
|
rs772867899
|
0.00001
|
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln)
|
rs537283735
|
0.00001
|
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys)
|
rs780273002
|
0.00001
|
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile)
|
rs746795141
|
0.00001
|
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr)
|
rs780879248
|
0.00001
|
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser)
|
rs370948119
|
0.00001
|
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile)
|
rs1157984983
|
0.00001
|
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val)
|
rs746141233
|
0.00001
|
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr)
|
rs1407602801
|
0.00001
|
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile)
|
rs757105603
|
0.00001
|
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val)
|
rs778689889
|
0.00001
|
NM_025132.4(WDR19):c.3114+3T>C
|
rs1275093466
|
0.00001
|
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu)
|
rs763748984
|
0.00001
|
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln)
|
rs764512369
|
0.00001
|
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met)
|
rs368286694
|
0.00001
|
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val)
|
rs571331592
|
0.00001
|
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser)
|
rs1035768119
|
0.00001
|
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln)
|
rs747065633
|
0.00001
|
NM_025132.4(WDR19):c.6+3A>G
|
rs1415721879
|
0.00001
|
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala)
|
rs757241775
|
0.00001
|
NM_025132.4(WDR19):c.8G>A (p.Arg3His)
|
rs922584346
|
0.00001
|
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys)
|
rs1729012449
|
0.00001
|
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser)
|
rs773720173
|
0.00001
|
NM_031885.5(BBS2):c.116A>G (p.Lys39Arg)
|
rs779677560
|
0.00001
|
NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser)
|
rs368138622
|
0.00001
|
NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln)
|
rs772380071
|
0.00001
|
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val)
|
rs374028829
|
0.00001
|
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys)
|
rs752749569
|
0.00001
|
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr)
|
rs771822557
|
0.00001
|
NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp)
|
rs1003841433
|
0.00001
|
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu)
|
rs772864503
|
0.00001
|
NM_031885.5(BBS2):c.941-20G>A
|
rs760109919
|
0.00001
|
NM_031885.5(BBS2):c.986T>C (p.Met329Thr)
|
rs201146063
|
0.00001
|
NM_033028.5(BBS4):c.1172C>T (p.Ala391Val)
|
rs1419955498
|
0.00001
|
NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro)
|
rs569462424
|
0.00001
|
NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp)
|
rs914591602
|
0.00001
|
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro)
|
rs749034070
|
0.00001
|
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr)
|
rs530223854
|
0.00001
|
NM_033028.5(BBS4):c.65G>A (p.Arg22Gln)
|
rs775955872
|
0.00001
|
NM_033028.5(BBS4):c.697C>G (p.Pro233Ala)
|
rs569388336
|
0.00001
|
NM_033028.5(BBS4):c.760G>A (p.Val254Ile)
|
rs532770420
|
0.00001
|
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)
|
rs748048479
|
0.00001
|
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)
|
rs199831925
|
0.00001
|
NM_144596.4(TTC8):c.1133T>C (p.Met378Thr)
|
rs1003053014
|
0.00001
|
NM_144596.4(TTC8):c.1215T>G (p.His405Gln)
|
rs753212470
|
0.00001
|
NM_144596.4(TTC8):c.1363C>A (p.Gln455Lys)
|
rs773278542
|
0.00001
|
NM_144596.4(TTC8):c.1402C>T (p.His468Tyr)
|
rs148602884
|
0.00001
|
NM_144596.4(TTC8):c.145-10T>C
|
rs754997963
|
0.00001
|
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn)
|
rs774233751
|
0.00001
|
NM_145045.5(ODAD3):c.1361G>A (p.Arg454His)
|
rs747718544
|
0.00001
|
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser)
|
rs769781725
|
0.00001
|
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser)
|
rs753942333
|
0.00001
|
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser)
|
rs754978707
|
0.00001
|
NM_152384.3(BBS5):c.259-3C>T
|
rs564412855
|
0.00001
|
NM_152384.3(BBS5):c.325A>G (p.Ile109Val)
|
rs758307712
|
0.00001
|
NM_152384.3(BBS5):c.332C>T (p.Thr111Ile)
|
rs375992092
|
0.00001
|
NM_152384.3(BBS5):c.60-10T>G
|
rs1224093899
|
0.00001
|
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys)
|
rs759233586
|
0.00001
|
NM_152384.3(BBS5):c.900G>C (p.Val300=)
|
rs757001492
|
0.00001
|
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr)
|
rs1395749164
|
0.00001
|
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile)
|
rs752254471
|
0.00001
|
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp)
|
rs202225266
|
0.00001
|
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)
|
rs771456483
|
0.00001
|
NM_152618.3(BBS12):c.1468A>G (p.Ile490Val)
|
rs775189952
|
0.00001
|
NM_152618.3(BBS12):c.1658T>A (p.Leu553His)
|
rs753004315
|
0.00001
|
NM_152618.3(BBS12):c.1849A>G (p.Thr617Ala)
|
rs771057055
|
0.00001
|
NM_152618.3(BBS12):c.1907T>C (p.Ile636Thr)
|
rs748009027
|
0.00001
|
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr)
|
rs1361081580
|
0.00001
|
NM_152618.3(BBS12):c.382G>A (p.Val128Ile)
|
rs375439566
|
0.00001
|
NM_152618.3(BBS12):c.508A>G (p.Ile170Val)
|
rs1218692709
|
0.00001
|
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)
|
rs565073445
|
0.00001
|
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys)
|
rs1179124061
|
0.00001
|
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly)
|
rs752533681
|
0.00001
|
NM_152618.3(BBS12):c.801T>A (p.Asp267Glu)
|
rs1183146847
|
0.00001
|
NM_153240.5(NPHP3):c.1149T>G (p.Phe383Leu)
|
rs747256150
|
0.00001
|
NM_153240.5(NPHP3):c.116G>T (p.Arg39Leu)
|
rs753467164
|
0.00001
|
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His)
|
rs755094682
|
0.00001
|
NM_153240.5(NPHP3):c.1411A>G (p.Ile471Val)
|
rs200659972
|
0.00001
|
NM_153240.5(NPHP3):c.146C>T (p.Ala49Val)
|
rs763420553
|
0.00001
|
NM_153240.5(NPHP3):c.1471A>T (p.Met491Leu)
|
rs756807243
|
0.00001
|
NM_153240.5(NPHP3):c.1513G>A (p.Gly505Arg)
|
rs375225209
|
0.00001
|
NM_153240.5(NPHP3):c.158C>G (p.Ala53Gly)
|
rs538317431
|
0.00001
|
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys)
|
rs1939564898
|
0.00001
|
NM_153240.5(NPHP3):c.1857C>G (p.Ile619Met)
|
rs780013712
|
0.00001
|
NM_153240.5(NPHP3):c.2222G>A (p.Cys741Tyr)
|
rs1451958461
|
0.00001
|
NM_153240.5(NPHP3):c.224A>G (p.Lys75Arg)
|
rs1217928367
|
0.00001
|
NM_153240.5(NPHP3):c.2263A>C (p.Ile755Leu)
|
rs772613405
|
0.00001
|
NM_153240.5(NPHP3):c.2302A>T (p.Met768Leu)
|
rs777858346
|
0.00001
|
NM_153240.5(NPHP3):c.2346G>A (p.Val782=)
|
rs200418725
|
0.00001
|
NM_153240.5(NPHP3):c.2666T>C (p.Leu889Pro)
|
rs747876996
|
0.00001
|
NM_153240.5(NPHP3):c.3237G>C (p.Gln1079His)
|
rs764287266
|
0.00001
|
NM_153240.5(NPHP3):c.323A>C (p.Glu108Ala)
|
rs371290162
|
0.00001
|
NM_153240.5(NPHP3):c.3290A>G (p.Asn1097Ser)
|
rs1157229330
|
0.00001
|
NM_153240.5(NPHP3):c.3433T>C (p.Cys1145Arg)
|
rs200287294
|
0.00001
|
NM_153240.5(NPHP3):c.346G>A (p.Glu116Lys)
|
rs1188632308
|
0.00001
|
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln)
|
rs138630766
|
0.00001
|
NM_153240.5(NPHP3):c.3499C>T (p.Arg1167Cys)
|
rs201135796
|
0.00001
|
NM_153240.5(NPHP3):c.3537G>A (p.Thr1179=)
|
rs761585621
|
0.00001
|
NM_153240.5(NPHP3):c.3805G>A (p.Val1269Met)
|
rs150019603
|
0.00001
|
NM_153240.5(NPHP3):c.590T>G (p.Leu197Arg)
|
rs757401076
|
0.00001
|
NM_153240.5(NPHP3):c.856C>G (p.Gln286Glu)
|
rs775337662
|
0.00001
|
NM_153240.5(NPHP3):c.958G>T (p.Asp320Tyr)
|
rs75288730
|
0.00001
|
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg)
|
rs1455416289
|
0.00001
|
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile)
|
rs774701716
|
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.2954C>T (p.Ser985Phe)
|
rs375047471
|
0.00001
|
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)
|
rs146838062
|
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.75C>G (p.Phe25Leu)
|
rs371462532
|
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
|
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly)
|
rs764556070
|
0.00001
|
NM_153717.3(EVC):c.884C>G (p.Thr295Ser)
|
rs754532508
|
0.00001
|
NM_170784.3(MKKS):c.1075C>T (p.His359Tyr)
|
rs1414454066
|
0.00001
|
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe)
|
rs1029793006
|
0.00001
|
NM_170784.3(MKKS):c.146G>T (p.Gly49Val)
|
rs528833454
|
0.00001
|
NM_176824.3(BBS7):c.1069T>G (p.Leu357Val)
|
rs906692940
|
0.00001
|
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr)
|
rs200788672
|
0.00001
|
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly)
|
rs746759579
|
0.00001
|
NM_176824.3(BBS7):c.1676+7C>G
|
rs1247015446
|
0.00001
|
NM_176824.3(BBS7):c.1717A>G (p.Ile573Val)
|
rs751029709
|
0.00001
|
NM_176824.3(BBS7):c.1916C>T (p.Thr639Met)
|
rs773771144
|
0.00001
|
NM_176824.3(BBS7):c.1960G>C (p.Asp654His)
|
rs143632090
|
0.00001
|
NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys)
|
rs1044486579
|
0.00001
|
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr)
|
rs1342336710
|
0.00001
|
NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys)
|
rs1013002037
|
0.00001
|
NM_176824.3(BBS7):c.329G>A (p.Ser110Asn)
|
rs775395171
|
0.00001
|
NM_176824.3(BBS7):c.479G>A (p.Arg160His)
|
rs138270119
|
0.00001
|
NM_176824.3(BBS7):c.640G>A (p.Gly214Arg)
|
rs1226167451
|
0.00001
|
NM_176824.3(BBS7):c.650C>T (p.Ala217Val)
|
rs370510563
|
0.00001
|
NM_176824.3(BBS7):c.944C>T (p.Thr315Ile)
|
rs1488474028
|
0.00001
|
NM_176824.3(BBS7):c.983C>A (p.Pro328Gln)
|
rs778714139
|
0.00001
|
NM_177965.4(CFAP418):c.134C>G (p.Ala45Gly)
|
rs1197547920
|
0.00001
|
NM_177965.4(CFAP418):c.414G>A (p.Leu138=)
|
rs150592488
|
0.00001
|
NM_177965.4(CFAP418):c.556A>G (p.Arg186Gly)
|
rs1483148451
|
0.00001
|
NM_177965.4(CFAP418):c.65T>C (p.Leu22Pro)
|
rs767780150
|
0.00001
|
NM_181426.2(CCDC39):c.531A>G (p.Gln177=)
|
rs779897284
|
0.00001
|
NM_198428.3(BBS9):c.1033A>G (p.Ile345Val)
|
rs1426530664
|
0.00001
|
NM_198428.3(BBS9):c.1111G>A (p.Val371Ile)
|
rs1366355966
|
0.00001
|
NM_198428.3(BBS9):c.1147G>A (p.Val383Ile)
|
rs1030973947
|
0.00001
|
NM_198428.3(BBS9):c.122T>G (p.Ile41Ser)
|
rs1381039813
|
0.00001
|
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr)
|
rs773192233
|
0.00001
|
NM_198428.3(BBS9):c.1537+14C>T
|
rs754694089
|
0.00001
|
NM_198428.3(BBS9):c.1538-7T>G
|
rs375661214
|
0.00001
|
NM_198428.3(BBS9):c.1836A>G (p.Ile612Met)
|
rs752845007
|
0.00001
|
NM_198428.3(BBS9):c.1855C>T (p.Arg619Cys)
|
rs543113169
|
0.00001
|
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys)
|
rs746543061
|
0.00001
|
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu)
|
rs1402083567
|
0.00001
|
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser)
|
rs774701632
|
0.00001
|
NM_198428.3(BBS9):c.2533A>G (p.Thr845Ala)
|
rs545725547
|
0.00001
|
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser)
|
rs755911247
|
0.00001
|
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser)
|
rs1279852557
|
0.00001
|
NM_198428.3(BBS9):c.894A>C (p.Glu298Asp)
|
rs757469936
|
0.00001
|
NM_198428.3(BBS9):c.938A>G (p.His313Arg)
|
rs533714503
|
0.00001
|
NM_198525.3(KIF7):c.2354A>T (p.Glu785Val)
|
rs759424882
|
0.00001
|
NM_198525.3(KIF7):c.2887T>A (p.Ser963Thr)
|
rs567836651
|
0.00001
|
NM_198525.3(KIF7):c.976G>A (p.Val326Ile)
|
rs1964066861
|
0.00001
|
NM_001023570.4(IQCB1):c.1250A>T (p.Tyr417Phe)
|
rs777697438
|
|
NM_001023570.4(IQCB1):c.1319T>C (p.Leu440Pro)
|
rs749515337
|
|
NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr)
|
rs776788131
|
|
NM_001023570.4(IQCB1):c.214C>G (p.Arg72Gly)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.491T>C (p.Leu164Pro)
|
rs746194022
|
|
NM_001023570.4(IQCB1):c.580A>T (p.Ile194Phe)
|
rs1412812453
|
|
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys)
|
rs776120367
|
|
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro)
|
rs1330242492
|
|
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)
|
rs375907280
|
|
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val)
|
rs373953762
|
|
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)
|
rs573192954
|
|
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr)
|
rs372893275
|
|
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp)
|
rs141686332
|
|
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)
|
rs201077898
|
|
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.522+5_522+8del
|
rs1411070570
|
|
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)
|
rs777677768
|
|
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp)
|
rs947765689
|
|
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser)
|
rs201661196
|
|
NM_001128178.3(NPHP1):c.771+136C>A
|
rs142670785
|
|
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe)
|
rs761203456
|
|
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe)
|
rs372919026
|
|
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys)
|
rs971565169
|
|
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val)
|
rs371198770
|
|
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala)
|
rs752392677
|
|
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile)
|
rs1049221524
|
|
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)
|
rs1784406093
|
|
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser)
|
rs2128009440
|
|
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala)
|
rs376705634
|
|
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu)
|
rs192524061
|
|
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys)
|
rs766052712
|
|
NM_001134831.2(AHI1):c.971A>G (p.His324Arg)
|
rs1789192683
|
|
NM_001174150.2(ARL13B):c.1193G>T (p.Gly398Val)
|
rs1483508428
|
|
NM_001174150.2(ARL13B):c.1211-1G>C
|
rs767291160
|
|
NM_001195305.3(BBIP1):c.148_150dup (p.Leu50dup)
|
rs991079395
|
|
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe)
|
rs146505940
|
|
NM_001206927.2(DNAH8):c.4847A>T (p.Asp1616Val)
|
rs943252271
|
|
NM_001277115.2(DNAH11):c.10091G>T (p.Arg3364Leu)
|
rs369682703
|
|
NM_001277115.2(DNAH11):c.10701G>T (p.Arg3567Ser)
|
rs375965591
|
|
NM_001277115.2(DNAH11):c.7472G>C (p.Arg2491Pro)
|
rs369438218
|
|
NM_001278293.3(ARL6):c.143T>A (p.Leu48His)
|
rs895572972
|
|
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys)
|
rs201736026
|
|
NM_001364171.2(ODAD1):c.498_499insCGT (p.Phe166_Asp167insArg)
|
rs779459076
|
|
NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln)
|
rs202169624
|
|
NM_001369.3(DNAH5):c.10558G>T (p.Asp3520Tyr)
|
rs766829989
|
|
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)
|
rs370684795
|
|
NM_001369.3(DNAH5):c.1536G>A (p.Gln512=)
|
rs541266118
|
|
NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe)
|
rs1775975227
|
|
NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr)
|
rs1773692803
|
|
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile)
|
rs1772373275
|
|
NM_001369.3(DNAH5):c.4171C>A (p.Leu1391Ile)
|
rs1000047685
|
|
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val)
|
rs1554074458
|
|
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln)
|
rs200839716
|
|
NM_001378454.1(ALMS1):c.10010A>G (p.Tyr3337Cys)
|
rs1674404167
|
|
NM_001378454.1(ALMS1):c.10082C>A (p.Ala3361Asp)
|
rs1195894910
|
|
NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys)
|
rs867586310
|
|
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del)
|
rs1184260245
|
|
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg)
|
rs139425340
|
|
NM_001378454.1(ALMS1):c.10519A>G (p.Met3507Val)
|
rs1350031802
|
|
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His)
|
rs1403094265
|
|
NM_001378454.1(ALMS1):c.10641C>G (p.Ser3547Arg)
|
rs893243465
|
|
NM_001378454.1(ALMS1):c.10709A>G (p.Tyr3570Cys)
|
rs2104104820
|
|
NM_001378454.1(ALMS1):c.10735G>C (p.Asp3579His)
|
rs1450650278
|
|
NM_001378454.1(ALMS1):c.10925A>G (p.His3642Arg)
|
rs1240495775
|
|
NM_001378454.1(ALMS1):c.10942G>A (p.Glu3648Lys)
|
rs397514576
|
|
NM_001378454.1(ALMS1):c.10952A>G (p.His3651Arg)
|
rs1294645835
|
|
NM_001378454.1(ALMS1):c.1097A>G (p.Gln366Arg)
|
rs2103715685
|
|
NM_001378454.1(ALMS1):c.11119A>C (p.Asn3707His)
|
rs200464290
|
|
NM_001378454.1(ALMS1):c.11254A>C (p.Asn3752His)
|
rs777251736
|
|
NM_001378454.1(ALMS1):c.11450G>A (p.Arg3817Lys)
|
rs909204912
|
|
NM_001378454.1(ALMS1):c.11455T>A (p.Tyr3819Asn)
|
rs761539239
|
|
NM_001378454.1(ALMS1):c.11481C>T (p.Ser3827=)
|
rs549156484
|
|
NM_001378454.1(ALMS1):c.11498C>T (p.Thr3833Ile)
|
rs776648380
|
|
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=)
|
rs767848384
|
|
NM_001378454.1(ALMS1):c.11669-3C>T
|
rs767901840
|
|
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu)
|
rs45576434
|
|
NM_001378454.1(ALMS1):c.11853C>G (p.Asn3951Lys)
|
rs577759803
|
|
NM_001378454.1(ALMS1):c.12041G>A (p.Arg4014Gln)
|
rs768365250
|
|
NM_001378454.1(ALMS1):c.12090_12101del (p.Pro4031_Arg4034del)
|
rs1245181381
|
|
NM_001378454.1(ALMS1):c.12113A>G (p.Gln4038Arg)
|
rs1057524132
|
|
NM_001378454.1(ALMS1):c.12299-15_12299-12del
|
rs775452962
|
|
NM_001378454.1(ALMS1):c.1237+4A>G
|
rs747868844
|
|
NM_001378454.1(ALMS1):c.12394_12397del (p.Lys4132fs)
|
rs776401197
|
|
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs)
|
rs761223068
|
|
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs)
|
rs2104216255
|
|
NM_001378454.1(ALMS1):c.1266C>A (p.Asp422Glu)
|
rs1396189205
|
|
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg)
|
rs774335945
|
|
NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val)
|
rs745737550
|
|
NM_001378454.1(ALMS1):c.1681G>A (p.Ala561Thr)
|
rs776104521
|
|
NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer)
|
rs1064795650
|
|
NM_001378454.1(ALMS1):c.1837_1838delinsAA (p.Gly613Asn)
|
rs2103772404
|
|
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala)
|
rs146234123
|
|
NM_001378454.1(ALMS1):c.1961C>T (p.Pro654Leu)
|
rs2103772890
|
|
NM_001378454.1(ALMS1):c.2012A>G (p.His671Arg)
|
rs1558647685
|
|
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1])
|
rs772848105
|
|
NM_001378454.1(ALMS1):c.2137T>C (p.Ser713Pro)
|
rs1248095655
|
|
NM_001378454.1(ALMS1):c.2227G>C (p.Val743Leu)
|
rs1046271130
|
|
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg)
|
rs1572932391
|
|
NM_001378454.1(ALMS1):c.2312G>A (p.Ser771Asn)
|
rs2103774719
|
|
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu)
|
rs370733145
|
|
NM_001378454.1(ALMS1):c.2849T>C (p.Val950Ala)
|
rs374139959
|
|
NM_001378454.1(ALMS1):c.2943G>C (p.Met981Ile)
|
rs757088179
|
|
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=)
|
rs1402244580
|
|
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser)
|
rs376987487
|
|
NM_001378454.1(ALMS1):c.3169A>G (p.Ser1057Gly)
|
rs750417761
|
|
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His)
|
rs181507134
|
|
NM_001378454.1(ALMS1):c.3366A>C (p.Lys1122Asn)
|
rs1254282900
|
|
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)
|
rs752342634
|
|
NM_001378454.1(ALMS1):c.3574T>G (p.Tyr1192Asp)
|
rs1553403697
|
|
NM_001378454.1(ALMS1):c.3838G>C (p.Ala1280Pro)
|
rs767729719
|
|
NM_001378454.1(ALMS1):c.3897G>T (p.Gln1299His)
|
rs745335322
|
|
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu)
|
rs764135588
|
|
NM_001378454.1(ALMS1):c.4160A>C (p.Lys1387Thr)
|
rs1264554750
|
|
NM_001378454.1(ALMS1):c.4369G>T (p.Val1457Phe)
|
rs373453289
|
|
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His)
|
rs201603580
|
|
NM_001378454.1(ALMS1):c.4714T>G (p.Ser1572Ala)
|
rs2103783756
|
|
NM_001378454.1(ALMS1):c.4831C>G (p.Pro1611Ala)
|
rs935791709
|
|
NM_001378454.1(ALMS1):c.496C>G (p.Gln166Glu)
|
rs2103701341
|
|
NM_001378454.1(ALMS1):c.50_51insAGAGGA (p.Glu27_Glu28dup)
|
rs1491245339
|
|
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del)
|
rs1553404031
|
|
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu)
|
rs962844498
|
|
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile)
|
rs1131691296
|
|
NM_001378454.1(ALMS1):c.5510_5512del (p.Ala1837del)
|
rs2103786773
|
|
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser)
|
rs370398704
|
|
NM_001378454.1(ALMS1):c.6016G>A (p.Asp2006Asn)
|
rs1671968768
|
|
NM_001378454.1(ALMS1):c.6024A>C (p.Lys2008Asn)
|
rs1671969063
|
|
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His)
|
rs1386959032
|
|
NM_001378454.1(ALMS1):c.6745A>T (p.Ile2249Phe)
|
rs946232848
|
|
NM_001378454.1(ALMS1):c.6848T>G (p.Leu2283Arg)
|
rs1442336894
|
|
NM_001378454.1(ALMS1):c.6854G>A (p.Arg2285His)
|
rs6546839
|
|
NM_001378454.1(ALMS1):c.688A>G (p.Thr230Ala)
|
rs2103710477
|
|
NM_001378454.1(ALMS1):c.7004A>T (p.Asp2335Val)
|
rs771422712
|
|
NM_001378454.1(ALMS1):c.7256C>T (p.Ala2419Val)
|
rs1672001133
|
|
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe)
|
rs35649068
|
|
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly)
|
rs539112266
|
|
NM_001378454.1(ALMS1):c.7346A>G (p.Tyr2449Cys)
|
rs766767334
|
|
NM_001378454.1(ALMS1):c.7507G>A (p.Ala2503Thr)
|
rs202060439
|
|
NM_001378454.1(ALMS1):c.7674+3A>G
|
rs1553404673
|
|
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg)
|
rs772417159
|
|
NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu)
|
rs1269143077
|
|
NM_001378454.1(ALMS1):c.8126A>G (p.Lys2709Arg)
|
rs761242664
|
|
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)
|
rs369650940
|
|
NM_001378454.1(ALMS1):c.82G>A (p.Glu28Lys)
|
rs1670512542
|
|
NM_001378454.1(ALMS1):c.8957C>A (p.Pro2986His)
|
rs1022866808
|
|
NM_001378454.1(ALMS1):c.896C>T (p.Pro299Leu)
|
rs199899389
|
|
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn)
|
rs753980616
|
|
NM_001378454.1(ALMS1):c.9016C>T (p.His3006Tyr)
|
rs779131632
|
|
NM_001378454.1(ALMS1):c.9278G>T (p.Arg3093Ile)
|
rs1320008798
|
|
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp)
|
rs1558667820
|
|
NM_001378454.1(ALMS1):c.9433A>G (p.Ile3145Val)
|
rs767987000
|
|
NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr)
|
rs959966297
|
|
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val)
|
rs16892095
|
|
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val)
|
rs747187783
|
|
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)
|
rs201884883
|
|
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT
|
rs750398145
|
|
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)
|
rs764874938
|
|
NM_001384732.1(CPLANE1):c.1103A>G (p.His368Arg)
|
rs1286291749
|
|
NM_001384732.1(CPLANE1):c.1823T>G (p.Ile608Ser)
|
rs1194762831
|
|
NM_001384732.1(CPLANE1):c.202A>G (p.Thr68Ala)
|
rs1002297986
|
|
NM_001384732.1(CPLANE1):c.2082G>A (p.Met694Ile)
|
rs2150434091
|
|
NM_001384732.1(CPLANE1):c.2663A>G (p.Asp888Gly)
|
rs1487026046
|
|
NM_001384732.1(CPLANE1):c.2763_2764inv (p.His921_Phe922delinsGlnIle)
|
|
|
NM_001384732.1(CPLANE1):c.3777_3788del (p.His1260_Asp1263del)
|
rs566159499
|
|
NM_001384732.1(CPLANE1):c.4219G>T (p.Val1407Phe)
|
rs2151179962
|
|
NM_001384732.1(CPLANE1):c.5040A>T (p.Leu1680Phe)
|
rs1783124765
|
|
NM_001384732.1(CPLANE1):c.5051C>T (p.Ser1684Leu)
|
rs2151150270
|
|
NM_001384732.1(CPLANE1):c.5255G>A (p.Arg1752Lys)
|
rs763933855
|
|
NM_001384732.1(CPLANE1):c.6302G>T (p.Arg2101Ile)
|
rs771457677
|
|
NM_001384732.1(CPLANE1):c.6398A>C (p.Lys2133Thr)
|
rs1218344038
|
|
NM_001384732.1(CPLANE1):c.6456C>A (p.Asn2152Lys)
|
rs186460995
|
|
NM_001384732.1(CPLANE1):c.6668A>T (p.Asp2223Val)
|
rs538086941
|
|
NM_001384732.1(CPLANE1):c.7534-4_7534-3del
|
rs1381389715
|
|
NM_001384732.1(CPLANE1):c.7972G>A (p.Val2658Ile)
|
rs988332114
|
|
NM_001384732.1(CPLANE1):c.7984G>C (p.Val2662Leu)
|
rs772274656
|
|
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe)
|
rs1561422940
|
|
NM_001384732.1(CPLANE1):c.8373+3A>G
|
rs780519767
|
|
NM_001384732.1(CPLANE1):c.8462-6G>C
|
rs1029215971
|
|
NM_001384732.1(CPLANE1):c.8664-19A>G
|
rs2150360134
|
|
NM_003114.5(SPAG1):c.2726del (p.Asn909fs)
|
rs777302538
|
|
NM_003114.5(SPAG1):c.422G>A (p.Gly141Asp)
|
rs1345807674
|
|
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr)
|
rs2147032761
|
|
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly)
|
rs2047794483
|
|
NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile)
|
rs370072966
|
|
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)
|
rs753709808
|
|
NM_006642.5(SDCCAG8):c.1727C>T (p.Ala576Val)
|
rs766677544
|
|
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser)
|
rs149928402
|
|
NM_006642.5(SDCCAG8):c.2098C>T (p.Arg700Trp)
|
rs369591883
|
|
NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro)
|
rs1193390013
|
|
NM_006642.5(SDCCAG8):c.306+11A>G
|
rs781456866
|
|
NM_006642.5(SDCCAG8):c.48G>T (p.Gln16His)
|
rs1398602761
|
|
NM_012144.4(DNAI1):c.1935T>G (p.Ile645Met)
|
rs1393988058
|
|
NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro)
|
rs11547035
|
|
NM_012210.4(TRIM32):c.*152T>G
|
rs868402796
|
|
NM_012210.4(TRIM32):c.1135G>A (p.Val379Met)
|
rs1861026363
|
|
NM_012210.4(TRIM32):c.1199G>T (p.Arg400Leu)
|
rs373015960
|
|
NM_012210.4(TRIM32):c.1786C>T (p.Arg596Cys)
|
rs765348678
|
|
NM_012210.4(TRIM32):c.1787G>A (p.Arg596His)
|
rs750300057
|
|
NM_012210.4(TRIM32):c.1951T>C (p.Ser651Pro)
|
rs1402865703
|
|
NM_012210.4(TRIM32):c.422C>A (p.Ala141Glu)
|
rs930137730
|
|
NM_012210.4(TRIM32):c.463C>A (p.Arg155Ser)
|
rs374055553
|
|
NM_012210.4(TRIM32):c.464G>C (p.Arg155Pro)
|
rs777914761
|
|
NM_012210.4(TRIM32):c.479T>C (p.Met160Thr)
|
rs199699832
|
|
NM_012210.4(TRIM32):c.494G>A (p.Arg165Gln)
|
rs761591526
|
|
NM_012210.4(TRIM32):c.601C>T (p.Arg201Cys)
|
rs147304059
|
|
NM_012210.4(TRIM32):c.739A>G (p.Lys247Glu)
|
rs2132072729
|
|
NM_012210.4(TRIM32):c.811C>G (p.Arg271Gly)
|
rs372298402
|
|
NM_012210.4(TRIM32):c.842T>C (p.Leu281Pro)
|
rs1861006758
|
|
NM_012210.4(TRIM32):c.873T>G (p.Ile291Met)
|
rs766687896
|
|
NM_012210.4(TRIM32):c.986C>G (p.Pro329Arg)
|
rs377510422
|
|
NM_012210.4(TRIM32):c.98G>A (p.Arg33His)
|
rs199863390
|
|
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr)
|
rs1188370536
|
|
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr)
|
rs747510464
|
|
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val)
|
rs190034269
|
|
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser)
|
rs2034677396
|
|
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro)
|
rs762399912
|
|
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr)
|
rs528350505
|
|
NM_014714.4(IFT140):c.1945G>A (p.Val649Met)
|
rs534052238
|
|
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met)
|
rs2033196611
|
|
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr)
|
rs2141185138
|
|
NM_014714.4(IFT140):c.2612G>A (p.Arg871His)
|
rs905240853
|
|
NM_014714.4(IFT140):c.2617G>C (p.Asp873His)
|
rs560840162
|
|
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser)
|
rs775517181
|
|
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)
|
rs554196965
|
|
NM_014714.4(IFT140):c.2682C>A (p.His894Gln)
|
rs774192784
|
|
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu)
|
rs200561100
|
|
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del)
|
rs1489901262
|
|
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys)
|
rs767290624
|
|
NM_014714.4(IFT140):c.3142_3144del
|
rs754866110
|
|
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn)
|
rs148194893
|
|
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
|
rs201884886
|
|
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser)
|
rs140159548
|
|
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys)
|
rs140159548
|
|
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val)
|
rs370255916
|
|
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val)
|
rs566568065
|
|
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4])
|
rs746697405
|
|
NM_014714.4(IFT140):c.4159G>A (p.Val1387Met)
|
rs142668269
|
|
NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu)
|
rs142668269
|
|
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp)
|
rs138697817
|
|
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del)
|
rs760889117
|
|
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr)
|
rs148462329
|
|
NM_014714.4(IFT140):c.482C>A (p.Pro161His)
|
rs191927317
|
|
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys)
|
rs752659125
|
|
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)
|
rs145858131
|
|
NM_014956.5(CEP164):c.101G>T (p.Arg34Leu)
|
rs760829793
|
|
NM_014956.5(CEP164):c.1474G>A (p.Glu492Lys)
|
rs757278608
|
|
NM_014956.5(CEP164):c.1607G>A (p.Cys536Tyr)
|
rs112527080
|
|
NM_014956.5(CEP164):c.1615G>C (p.Gly539Arg)
|
rs758286092
|
|
NM_014956.5(CEP164):c.1667C>A (p.Ala556Glu)
|
rs1053615798
|
|
NM_014956.5(CEP164):c.1738C>A (p.Pro580Thr)
|
rs758890143
|
|
NM_014956.5(CEP164):c.194+15G>T
|
rs1423887740
|
|
NM_014956.5(CEP164):c.2242C>G (p.Leu748Val)
|
rs763926600
|
|
NM_014956.5(CEP164):c.2519G>A (p.Arg840His)
|
rs201901144
|
|
NM_014956.5(CEP164):c.2813T>G (p.Val938Gly)
|
rs374045323
|
|
NM_014956.5(CEP164):c.2834_2844+13dup
|
rs765251449
|
|
NM_014956.5(CEP164):c.3087C>G (p.Phe1029Leu)
|
rs2045343660
|
|
NM_014956.5(CEP164):c.3484C>T (p.Arg1162Cys)
|
rs138487235
|
|
NM_014956.5(CEP164):c.3707C>G (p.Ser1236Cys)
|
rs375184395
|
|
NM_014956.5(CEP164):c.3772_3774del (p.Ser1258del)
|
rs752854208
|
|
NM_014956.5(CEP164):c.380C>G (p.Pro127Arg)
|
rs143659874
|
|
NM_014956.5(CEP164):c.3866C>T (p.Ser1289Leu)
|
rs758693012
|
|
NM_014956.5(CEP164):c.4024C>T (p.Pro1342Ser)
|
rs769315243
|
|
NM_014956.5(CEP164):c.4249C>T (p.Arg1417Trp)
|
rs745904143
|
|
NM_014956.5(CEP164):c.4287-6G>A
|
rs2137006602
|
|
NM_014956.5(CEP164):c.485G>A (p.Arg162His)
|
rs139763142
|
|
NM_014956.5(CEP164):c.644_646del (p.Gly215del)
|
rs759774330
|
|
NM_014956.5(CEP164):c.749G>A (p.Gly250Asp)
|
rs368668415
|
|
NM_015102.5(NPHP4):c.1427C>A (p.Pro476His)
|
rs534853218
|
|
NM_015102.5(NPHP4):c.1463G>C (p.Arg488Pro)
|
rs375429200
|
|
NM_015102.5(NPHP4):c.1523C>T (p.Ala508Val)
|
rs766910538
|
|
NM_015102.5(NPHP4):c.1534C>T (p.Arg512Trp)
|
rs769747675
|
|
NM_015102.5(NPHP4):c.1740TGT[1] (p.Val582del)
|
rs1282891020
|
|
NM_015102.5(NPHP4):c.1838A>G (p.Asn613Ser)
|
rs1557699489
|
|
NM_015102.5(NPHP4):c.2021G>A (p.Arg674His)
|
rs375416303
|
|
NM_015102.5(NPHP4):c.2032G>T (p.Ala678Ser)
|
rs368101076
|
|
NM_015102.5(NPHP4):c.2241_2242delinsAA (p.Gln748Lys)
|
rs2100920979
|
|
NM_015102.5(NPHP4):c.2358_2360del (p.Val787del)
|
rs751681273
|
|
NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys)
|
rs764028061
|
|
NM_015102.5(NPHP4):c.2426A>G (p.Lys809Arg)
|
rs747951355
|
|
NM_015102.5(NPHP4):c.2651A>G (p.Asp884Gly)
|
rs1642710907
|
|
NM_015102.5(NPHP4):c.2812G>C (p.Val938Leu)
|
rs184961418
|
|
NM_015102.5(NPHP4):c.3203T>G (p.Phe1068Cys)
|
rs764323785
|
|
NM_015102.5(NPHP4):c.3252C>G (p.Asn1084Lys)
|
rs778087914
|
|
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=)
|
rs762953303
|
|
NM_015102.5(NPHP4):c.3964T>G (p.Cys1322Gly)
|
rs748449029
|
|
NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp)
|
rs1417370808
|
|
NM_015102.5(NPHP4):c.713C>A (p.Thr238Lys)
|
rs752644932
|
|
NM_015102.5(NPHP4):c.96G>T (p.Gln32His)
|
rs776102193
|
|
NM_015120.4(ALMS1):c.-107G>A
|
rs886056292
|
|
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del)
|
rs55889738
|
|
NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly)
|
rs565245381
|
|
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg)
|
rs181526554
|
|
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp)
|
rs1967370164
|
|
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr)
|
rs2151128525
|
|
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys)
|
rs981992752
|
|
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu)
|
rs2151082906
|
|
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.293G>T (p.Gly98Val)
|
rs886052098
|
|
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)
|
rs752076060
|
|
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val)
|
rs1436841364
|
|
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs)
|
rs761954313
|
|
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr)
|
rs2150909535
|
|
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp)
|
rs987512823
|
|
NM_015512.5(DNAH1):c.1274G>A (p.Arg425His)
|
rs200951874
|
|
NM_015512.5(DNAH1):c.2722A>G (p.Asn908Asp)
|
rs1416177113
|
|
NM_015512.5(DNAH1):c.3253C>T (p.Arg1085Trp)
|
rs199955529
|
|
NM_015512.5(DNAH1):c.4085_4086delinsTT (p.Arg1362Leu)
|
rs1559525094
|
|
NM_015512.5(DNAH1):c.9505C>G (p.Arg3169Gly)
|
rs185305129
|
|
NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys)
|
rs1038040281
|
|
NM_015662.3(IFT172):c.1435A>G (p.Ile479Val)
|
rs1667635292
|
|
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu)
|
rs765731241
|
|
NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu)
|
rs371919234
|
|
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro)
|
rs78631901
|
|
NM_015662.3(IFT172):c.2839A>G (p.Met947Val)
|
rs774401568
|
|
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp)
|
rs935403723
|
|
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro)
|
rs758387302
|
|
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp)
|
rs532669006
|
|
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)
|
rs746597294
|
|
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile)
|
rs145507269
|
|
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del)
|
rs763826196
|
|
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)
|
rs543062539
|
|
NM_015662.3(IFT172):c.44G>T (p.Gly15Val)
|
rs1572838053
|
|
NM_015662.3(IFT172):c.463G>A (p.Val155Met)
|
rs149969430
|
|
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del)
|
rs1664979213
|
|
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)
|
rs529850410
|
|
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys)
|
rs1002834084
|
|
NM_015910.7(WDPCP):c.1237A>G (p.Ile413Val)
|
rs1694378572
|
|
NM_015910.7(WDPCP):c.1340A>G (p.Gln447Arg)
|
rs2105185377
|
|
NM_015910.7(WDPCP):c.1591CTT[1] (p.Leu532del)
|
rs748711953
|
|
NM_015910.7(WDPCP):c.172G>A (p.Gly58Arg)
|
rs190629484
|
|
NM_015910.7(WDPCP):c.73C>A (p.Gln25Lys)
|
rs1324126661
|
|
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp)
|
rs1305395503
|
|
NM_016169.4(SUFU):c.664C>G (p.Leu222Val)
|
rs765345575
|
|
NM_016343.4(CENPF):c.2186C>T (p.Thr729Ile)
|
rs1028498197
|
|
NM_016343.4(CENPF):c.4477_4478inv (p.Ser1493Asp)
|
|
|
NM_017777.4(MKS1):c.1544G>A (p.Arg515His)
|
rs200658872
|
|
NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu)
|
rs368929374
|
|
NM_017950.4(CCDC40):c.3263G>A (p.Arg1088His)
|
rs200145777
|
|
NM_017950.4(CCDC40):c.676+2_676+3dup
|
rs756160039
|
|
NM_018139.3(DNAAF2):c.1076TCGCCG[3] (p.359VA[3])
|
rs962923283
|
|
NM_018139.3(DNAAF2):c.370_393del (p.Ser124_Tyr131del)
|
rs2139583907
|
|
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala)
|
rs149373377
|
|
NM_019892.6(INPP5E):c.1505C>T (p.Pro502Leu)
|
rs769531967
|
|
NM_020347.4(LZTFL1):c.281G>C (p.Trp94Ser)
|
rs748688183
|
|
NM_020347.4(LZTFL1):c.55C>A (p.Arg19Ser)
|
rs759640480
|
|
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu)
|
rs370797645
|
|
NM_023036.6(DNAI2):c.1130C>T (p.Pro377Leu)
|
rs199726930
|
|
NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn)
|
rs567531807
|
|
NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val)
|
rs146727740
|
|
NM_023036.6(DNAI2):c.787C>G (p.Arg263Gly)
|
rs137852998
|
|
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro)
|
rs540217506
|
|
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys)
|
rs374706769
|
|
NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr)
|
rs1194392195
|
|
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu)
|
rs142648652
|
|
NM_024649.5(BBS1):c.1752G>A (p.Met584Ile)
|
rs769773058
|
|
NM_024649.5(BBS1):c.316C>G (p.Leu106Val)
|
rs137853913
|
|
NM_024649.5(BBS1):c.316C>T (p.Leu106Phe)
|
rs137853913
|
|
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg)
|
rs1856141438
|
|
NM_024649.5(BBS1):c.77C>T (p.Ala26Val)
|
rs866558676
|
|
NM_024649.5(BBS1):c.910G>T (p.Val304Leu)
|
rs1228755309
|
|
NM_024685.4(BBS10):c.1696A>C (p.Asn566His)
|
rs144402299
|
|
NM_024685.4(BBS10):c.1780A>G (p.Met594Val)
|
rs1951756219
|
|
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg)
|
rs1951755649
|
|
NM_024685.4(BBS10):c.2T>C (p.Met1Thr)
|
rs1382481529
|
|
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del)
|
rs1318745309
|
|
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)
|
rs756632517
|
|
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala)
|
rs781723681
|
|
NM_024753.4(TTC21B):c.-82C>G
|
rs543599575
|
|
NM_024753.5(TTC21B):c.1185+5A>G
|
rs2105343665
|
|
NM_024753.5(TTC21B):c.1231C>G (p.Arg411Gly)
|
rs185089786
|
|
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly)
|
rs1354455514
|
|
NM_024753.5(TTC21B):c.1709C>T (p.Ala570Val)
|
rs1559058045
|
|
NM_024753.5(TTC21B):c.2128A>G (p.Thr710Ala)
|
rs1457311503
|
|
NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys)
|
rs1685925745
|
|
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val)
|
rs766811699
|
|
NM_024753.5(TTC21B):c.2884A>T (p.Met962Leu)
|
rs1010771919
|
|
NM_024753.5(TTC21B):c.2975T>C (p.Leu992Ser)
|
rs995750441
|
|
NM_024753.5(TTC21B):c.3149G>A (p.Arg1050Gln)
|
rs144103331
|
|
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu)
|
rs1294549037
|
|
NM_024753.5(TTC21B):c.3782G>T (p.Ser1261Ile)
|
rs371730439
|
|
NM_024753.5(TTC21B):c.864C>A (p.Phe288Leu)
|
rs776784928
|
|
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val)
|
rs746459698
|
|
NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr)
|
rs760206821
|
|
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe)
|
rs1264332374
|
|
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)
|
rs1459958084
|
|
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)
|
rs767250881
|
|
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu)
|
rs1193394531
|
|
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser)
|
rs1488946278
|
|
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)
|
rs748976722
|
|
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu)
|
rs955251811
|
|
NM_025114.4(CEP290):c.2483+5A>G
|
rs2137661741
|
|
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser)
|
rs1443848622
|
|
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys)
|
rs1039332206
|
|
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala)
|
rs898733071
|
|
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del)
|
rs760503950
|
|
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.3514CAA[2] (p.Gln1174del)
|
rs749010290
|
|
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.3829_3830delinsCT (p.Ala1277Leu)
|
rs1565845877
|
|
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu)
|
rs2137270029
|
|
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg)
|
rs1157241942
|
|
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)
|
rs200817579
|
|
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His)
|
rs1173154577
|
|
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.5228C>T (p.Ala1743Val)
|
rs951910051
|
|
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp)
|
rs2136964084
|
|
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)
|
rs2034695558
|
|
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.6570G>A (p.Met2190Ile)
|
rs1480802620
|
|
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del)
|
rs768777116
|
|
NM_025114.4(CEP290):c.790G>T (p.Val264Leu)
|
rs1242440672
|
|
NM_025114.4(CEP290):c.916G>A (p.Val306Ile)
|
rs558949569
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile)
|
rs1729054259
|
|
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe)
|
rs1560503998
|
|
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu)
|
rs190192706
|
|
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr)
|
rs1577943727
|
|
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly)
|
rs886059400
|
|
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val)
|
rs886059401
|
|
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu)
|
rs1735748675
|
|
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys)
|
rs199812132
|
|
NM_031885.3(BBS2):c.-163C>T
|
rs750434595
|
|
NM_031885.5(BBS2):c.1123G>C (p.Gly375Arg)
|
rs1018314879
|
|
NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile)
|
rs368138622
|
|
NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu)
|
rs192007013
|
|
NM_031885.5(BBS2):c.142C>T (p.Arg48Trp)
|
rs1030249829
|
|
NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys)
|
rs181107019
|
|
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)
|
rs556899786
|
|
NM_031885.5(BBS2):c.1895G>A (p.Arg632His)
|
rs138043021
|
|
NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys)
|
rs753656568
|
|
NM_031885.5(BBS2):c.365C>T (p.Ala122Val)
|
rs17856449
|
|
NM_031885.5(BBS2):c.485A>G (p.Asn162Ser)
|
rs749148042
|
|
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro)
|
rs1597020018
|
|
NM_031885.5(BBS2):c.8T>C (p.Leu3Pro)
|
rs1964870972
|
|
NM_031885.5(BBS2):c.974G>A (p.Arg325Lys)
|
rs1964301074
|
|
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)
|
rs750983167
|
|
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del)
|
rs759315856
|
|
NM_033028.5(BBS4):c.1248G>A (p.Glu416=)
|
rs914591602
|
|
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly)
|
rs753145823
|
|
NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro)
|
rs776847398
|
|
NM_033028.5(BBS4):c.1493del (p.Pro498fs)
|
rs777455492
|
|
NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs)
|
rs1463405501
|
|
NM_033028.5(BBS4):c.428T>A (p.Val143Asp)
|
rs2065601390
|
|
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn)
|
rs781691906
|
|
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys)
|
rs756915341
|
|
NM_033124.5(CCDC65):c.2T>A (p.Met1Lys)
|
rs1939435183
|
|
NM_144596.4(TTC8):c.488C>T (p.Thr163Met)
|
rs758942370
|
|
NM_144596.4(TTC8):c.983C>T (p.Ala328Val)
|
rs755533153
|
|
NM_145038.5(DRC1):c.2079_2086del (p.Arg694fs)
|
rs1558457993
|
|
NM_145038.5(DRC1):c.2190_2193dup (p.Thr732fs)
|
rs763631774
|
|
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp)
|
rs748869122
|
|
NM_152384.3(BBS5):c.211G>A (p.Val71Ile)
|
rs1397496181
|
|
NM_152384.3(BBS5):c.259-3C>G
|
rs564412855
|
|
NM_152384.3(BBS5):c.569A>C (p.His190Pro)
|
rs755408078
|
|
NM_152384.3(BBS5):c.59+5G>A
|
rs2105290053
|
|
NM_152618.3(BBS12):c.1261C>T (p.Arg421Cys)
|
rs199596849
|
|
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)
|
rs145489987
|
|
NM_152618.3(BBS12):c.1507G>A (p.Val503Met)
|
rs374865012
|
|
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del)
|
rs758008862
|
|
NM_152618.3(BBS12):c.356G>A (p.Gly119Asp)
|
rs2150736114
|
|
NM_152618.3(BBS12):c.400G>T (p.Val134Phe)
|
rs1467415217
|
|
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg)
|
rs994493028
|
|
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)
|
rs745504524
|
|
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)
|
rs779801356
|
|
NM_153240.5(NPHP3):c.1322A>G (p.Tyr441Cys)
|
rs1939731078
|
|
NM_153240.5(NPHP3):c.1525T>C (p.Tyr509His)
|
rs1939605927
|
|
NM_153240.5(NPHP3):c.155C>T (p.Ala52Val)
|
rs747055547
|
|
NM_153240.5(NPHP3):c.155CAG[1] (p.Ala53del)
|
rs766573820
|
|
NM_153240.5(NPHP3):c.161G>A (p.Gly54Glu)
|
rs1281178184
|
|
NM_153240.5(NPHP3):c.169_174dup (p.Pro57_Gly58dup)
|
rs1553775768
|
|
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala)
|
rs373627362
|
|
NM_153240.5(NPHP3):c.1dup (p.Met1fs)
|
rs2108008416
|
|
NM_153240.5(NPHP3):c.2263A>G (p.Ile755Val)
|
rs772613405
|
|
NM_153240.5(NPHP3):c.2647C>T (p.His883Tyr)
|
rs886044248
|
|
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg)
|
rs751790371
|
|
NM_153240.5(NPHP3):c.2936C>T (p.Pro979Leu)
|
rs903849432
|
|
NM_153240.5(NPHP3):c.2995A>C (p.Lys999Gln)
|
rs559425353
|
|
NM_153240.5(NPHP3):c.3059G>A (p.Gly1020Asp)
|
rs146097715
|
|
NM_153240.5(NPHP3):c.3137C>G (p.Ala1046Gly)
|
rs756790389
|
|
NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe)
|
rs141144099
|
|
NM_153240.5(NPHP3):c.3326T>G (p.Leu1109Arg)
|
rs369704665
|
|
NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro)
|
rs794727430
|
|
NM_153240.5(NPHP3):c.3833A>T (p.Glu1278Val)
|
rs757964370
|
|
NM_153240.5(NPHP3):c.76G>A (p.Glu26Lys)
|
rs1465502034
|
|
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.2374A>G (p.Arg792Gly)
|
rs1815059174
|
|
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr)
|
rs2130780313
|
|
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val)
|
rs758638902
|
|
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg)
|
rs143495661
|
|
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
|
rs1164121689
|
|
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly)
|
rs746696111
|
|
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn)
|
rs142327258
|
|
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile)
|
rs776936558
|
|
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly)
|
rs1331122376
|
|
NM_170784.3(MKKS):c.812C>T (p.Ala271Val)
|
rs772754363
|
|
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser)
|
rs763160690
|
|
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg)
|
rs1229720963
|
|
NM_176824.3(BBS7):c.22A>T (p.Met8Leu)
|
rs757370927
|
|
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly)
|
rs1050167281
|
|
NM_176824.3(BBS7):c.302T>A (p.Leu101His)
|
rs760863058
|
|
NM_176824.3(BBS7):c.340A>C (p.Met114Leu)
|
rs142305911
|
|
NM_176824.3(BBS7):c.340A>G (p.Met114Val)
|
rs142305911
|
|
NM_176824.3(BBS7):c.600C>A (p.Gly200=)
|
rs370053625
|
|
NM_177965.4(CFAP418):c.317C>T (p.Pro106Leu)
|
rs376587956
|
|
NM_177965.4(CFAP418):c.331G>A (p.Gly111Arg)
|
rs757837788
|
|
NM_177965.4(CFAP418):c.422G>A (p.Ser141Asn)
|
rs2132155183
|
|
NM_177965.4(CFAP418):c.43A>G (p.Lys15Glu)
|
rs1023654494
|
|
NM_177965.4(CFAP418):c.449C>G (p.Ser150Trp)
|
rs149558233
|
|
NM_177965.4(CFAP418):c.602G>C (p.Arg201Pro)
|
rs115660509
|
|
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup)
|
rs776738547
|
|
NM_178452.6(DNAAF1):c.362G>A (p.Arg121His)
|
rs34897947
|
|
NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg)
|
rs6769457
|
|
NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del)
|
rs771715698
|
|
NM_198428.3(BBS9):c.1245C>A (p.Val415=)
|
rs61764066
|
|
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe)
|
rs751604593
|
|
NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser)
|
rs762511626
|
|
NM_198428.3(BBS9):c.1799G>A (p.Arg600His)
|
rs749018243
|
|
NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly)
|
rs370925964
|
|
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys)
|
rs184994140
|
|
NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr)
|
rs772347593
|
|
NM_198428.3(BBS9):c.2080C>T (p.His694Tyr)
|
rs2128756856
|
|
NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn)
|
rs1274816953
|
|
NM_198428.3(BBS9):c.20G>A (p.Arg7His)
|
rs746340993
|
|
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu)
|
rs746340993
|
|
NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn)
|
rs1393453305
|
|
NM_198428.3(BBS9):c.396G>C (p.Gln132His)
|
rs10255104
|
|
NM_198428.3(BBS9):c.529G>T (p.Gly177Cys)
|
rs750278720
|
|
NM_198428.3(BBS9):c.563C>T (p.Ser188Phe)
|
rs2128312652
|
|
NM_198525.3(KIF7):c.1921A>G (p.Arg641Gly)
|
rs137905815
|
|
NM_198525.3(KIF7):c.2917C>G (p.Arg973Gly)
|
rs202229910
|
|
NM_198525.3(KIF7):c.3431G>T (p.Arg1144Leu)
|
rs756521084
|
|