ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1543
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.337-12C>T rs79529534 0.02365
NM_020347.4(LZTFL1):c.376A>C (p.Asn126His) rs9917821 0.01995
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_033028.5(BBS4):c.712-17C>G rs150754122 0.01051
NM_015662.3(IFT172):c.571-15C>G rs75809198 0.01015
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_015662.3(IFT172):c.1338T>C (p.Asn446=) rs61743327 0.00780
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567 0.00765
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_177965.4(CFAP418):c.243+20T>C rs10107484 0.00690
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524 0.00539
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_015662.3(IFT172):c.4659+16T>C rs143060452 0.00514
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_033028.5(BBS4):c.1106+20T>C rs145968663 0.00461
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245 0.00370
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444 0.00190
NM_031885.5(BBS2):c.1081-18G>T rs142558653 0.00166
NM_006642.5(SDCCAG8):c.929+18C>T rs200895248 0.00164
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322 0.00156
NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe) rs189817127 0.00141
NM_015662.3(IFT172):c.4755+9G>C rs375261962 0.00135
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
NM_177965.4(CFAP418):c.155+20T>G rs202045168 0.00104
NM_001195305.3(BBIP1):c.137T>C (p.Met46Thr) rs11548767 0.00103
NM_015662.3(IFT172):c.2443-19A>G rs199907803 0.00101
NM_015662.3(IFT172):c.2787+20C>T rs200344602 0.00100
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966 0.00094
NM_015662.3(IFT172):c.2787+6G>A rs75805075 0.00086
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298 0.00086
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061 0.00081
NM_015662.3(IFT172):c.3186G>A (p.Val1062=) rs143922405 0.00078
NM_015662.3(IFT172):c.5161-20G>A rs372154058 0.00076
NM_170784.3(MKKS):c.15A>G (p.Glu5=) rs145396188 0.00074
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00068
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_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
NM_198428.3(BBS9):c.1432+7T>G rs150963080 0.00058
NM_144596.4(TTC8):c.910-16T>G rs199763558 0.00053
NM_025114.4(CEP290):c.4705-18C>T rs199751805 0.00052
NM_020347.4(LZTFL1):c.881+16C>T rs193075494 0.00050
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg) rs139229844 0.00049
NM_020347.4(LZTFL1):c.128+13G>A rs192123238 0.00049
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00048
NM_033028.5(BBS4):c.460-20T>C rs200203402 0.00048
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_033028.5(BBS4):c.157-19A>G rs373166573 0.00046
NM_015662.3(IFT172):c.2023-15C>A rs377630264 0.00043
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
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_153704.6(TMEM67):c.577-6A>G rs191516556 0.00041
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile) rs201877419 0.00039
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096 0.00039
NM_198428.3(BBS9):c.2322C>T (p.Ala774=) rs145435891 0.00037
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_170784.3(MKKS):c.231G>A (p.Leu77=) rs373913834 0.00035
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791 0.00034
NM_033028.5(BBS4):c.24+18C>G rs368789560 0.00034
NM_176824.3(BBS7):c.165+16T>C rs371497491 0.00034
NM_015910.7(WDPCP):c.1916-18A>G rs201068492 0.00032
NM_024685.4(BBS10):c.474G>T (p.Ser158=) rs375436323 0.00032
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_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
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_031885.5(BBS2):c.358G>A (p.Ala120Thr) rs148808295 0.00030
NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala) rs201580075 0.00029
NM_006642.5(SDCCAG8):c.2112+17G>A rs754713552 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_025114.4(CEP290):c.2991+1655A>G rs281865192 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_153704.6(TMEM67):c.2439+17C>T rs375852558 0.00029
NM_015910.7(WDPCP):c.252G>T (p.Glu84Asp) rs201399904 0.00028
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) rs144492051 0.00028
NM_198428.3(BBS9):c.2115+20C>T rs779186804 0.00028
NM_031885.5(BBS2):c.534+20T>C rs369579609 0.00027
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_015662.3(IFT172):c.2949G>A (p.Lys983=) rs141970363 0.00026
NM_015662.3(IFT172):c.3951+14G>T rs376690357 0.00026
NM_015662.3(IFT172):c.987G>A (p.Thr329=) rs376714689 0.00026
NM_031885.5(BBS2):c.1623C>T (p.Gly541=) rs143951580 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_198428.3(BBS9):c.621C>T (p.Tyr207=) rs140169161 0.00026
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=) rs551376007 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_015662.3(IFT172):c.2193+10T>A rs368782783 0.00024
NM_015662.3(IFT172):c.3952-19C>T rs367962098 0.00024
NM_015910.7(WDPCP):c.826-13T>C rs368439537 0.00024
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_031885.5(BBS2):c.1080+14C>T rs375468475 0.00024
NM_144596.4(TTC8):c.909+18T>C rs111707320 0.00024
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln) rs150931960 0.00024
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu) rs146412602 0.00023
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys) rs147882975 0.00022
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_144596.4(TTC8):c.1262G>C (p.Arg421Thr) rs374742528 0.00021
NM_015662.3(IFT172):c.2521+11C>T rs373403495 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_033028.5(BBS4):c.1107-11G>C rs373344695 0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 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_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_015662.3(IFT172):c.235A>G (p.Thr79Ala) rs752069515 0.00019
NM_015662.3(IFT172):c.4815+9G>A rs199667794 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_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_198428.3(BBS9):c.886+14T>G rs368019366 0.00019
NM_006642.5(SDCCAG8):c.221-4A>G rs373526073 0.00018
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His) rs200657425 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_031885.5(BBS2):c.471+17A>G rs200587401 0.00018
NM_001195305.3(BBIP1):c.116C>T (p.Pro39Leu) rs912754275 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_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00017
NM_152384.3(BBS5):c.468A>G (p.Pro156=) rs200636409 0.00017
NM_006642.5(SDCCAG8):c.421-16G>T rs780682849 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_152618.3(BBS12):c.2114C>T (p.Thr705Met) rs372102223 0.00016
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420 0.00016
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=) rs143671920 0.00015
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys) rs146290725 0.00015
NM_024685.4(BBS10):c.1923C>T (p.Pro641=) rs201449351 0.00015
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_006642.5(SDCCAG8):c.929+17G>A rs376439930 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_024685.4(BBS10):c.1050A>G (p.Pro350=) rs370953693 0.00014
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537 0.00014
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=) rs375966721 0.00014
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166 0.00014
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln) rs149042169 0.00014
NM_015910.7(WDPCP):c.1435+19T>C rs367947125 0.00013
NM_024685.4(BBS10):c.102G>T (p.Arg34=) rs376601112 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_153704.6(TMEM67):c.192T>C (p.Pro64=) rs150383995 0.00013
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00013
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719 0.00013
NM_012210.4(TRIM32):c.863C>A (p.Pro288His) rs367574371 0.00012
NM_015662.3(IFT172):c.184-10A>T rs546122503 0.00012
NM_015662.3(IFT172):c.2442+16T>A rs189737111 0.00012
NM_015662.3(IFT172):c.39+13G>A rs747789616 0.00012
NM_015910.7(WDPCP):c.385-12A>G rs528402153 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_024685.4(BBS10):c.27G>T (p.Gly9=) rs370213920 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_153704.6(TMEM67):c.312+13T>C rs748077984 0.00012
NM_153704.6(TMEM67):c.312+14A>G rs202135944 0.00012
NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys) rs150961792 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_024649.5(BBS1):c.1777G>A (p.Ala593Thr) rs760237505 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_025114.4(CEP290):c.6960+9C>T rs373226012 0.00011
NM_025114.4(CEP290):c.93C>T (p.Ser31=) rs375955381 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_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 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.2022G>T (p.Arg674=) rs561957887 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_001195305.3(BBIP1):c.233G>A (p.Arg78His) rs532149239 0.00010
NM_006642.5(SDCCAG8):c.740+14G>A rs373462087 0.00010
NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys) rs529914770 0.00010
NM_024649.5(BBS1):c.479+20T>C rs756451521 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.4438-13T>C rs528298900 0.00010
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 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_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849 0.00010
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_170784.3(MKKS):c.926G>A (p.Arg309His) rs199939179 0.00010
NM_176824.3(BBS7):c.1511+19C>A rs201524145 0.00010
NM_198428.3(BBS9):c.436G>A (p.Val146Ile) rs372412756 0.00010
NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys) rs143447584 0.00009
NM_006642.5(SDCCAG8):c.729G>A (p.Leu243=) rs199629519 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.915C>T (p.Ile305=) rs371251483 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_015662.3(IFT172):c.145C>T (p.Arg49Trp) rs141043554 0.00009
NM_015662.3(IFT172):c.1608C>T (p.Asp536=) rs749114212 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_024649.5(BBS1):c.1021C>T (p.Arg341Trp) rs767395683 0.00009
NM_024649.5(BBS1):c.54G>A (p.Glu18=) rs761128852 0.00009
NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser) rs767717128 0.00009
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_031885.5(BBS2):c.612+18G>A rs200364314 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_152618.3(BBS12):c.1467A>G (p.Ala489=) rs148850607 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_176824.3(BBS7):c.191C>T (p.Pro64Leu) rs747055521 0.00009
NM_177965.4(CFAP418):c.194G>T (p.Ser65Ile) rs969339085 0.00009
NM_177965.4(CFAP418):c.375-16T>A rs756845953 0.00009
NM_198428.3(BBS9):c.2509A>G (p.Met837Val) rs771310981 0.00009
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133 0.00009
NM_001278293.3(ARL6):c.350-7C>T rs375454860 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_015662.3(IFT172):c.1829G>A (p.Arg610Gln) rs144890293 0.00008
NM_015662.3(IFT172):c.1983T>A (p.His661Gln) rs150739354 0.00008
NM_015662.3(IFT172):c.3933G>A (p.Ala1311=) rs143011753 0.00008
NM_015662.3(IFT172):c.732C>T (p.Thr244=) rs778790509 0.00008
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser) rs765923597 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_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_031885.5(BBS2):c.1381G>A (p.Val461Met) rs377000980 0.00008
NM_031885.5(BBS2):c.1528-15G>T rs368282063 0.00008
NM_144596.4(TTC8):c.1347+18G>A rs368504643 0.00008
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys) rs370111364 0.00008
NM_152384.3(BBS5):c.523-18C>T rs201051397 0.00008
NM_152384.3(BBS5):c.60-3T>C rs201553380 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.1356T>C (p.Ser452=) rs201977053 0.00008
NM_170784.3(MKKS):c.629T>C (p.Ile210Thr) rs201243884 0.00008
NM_198428.3(BBS9):c.2313G>A (p.Thr771=) rs374269883 0.00008
NM_001195305.3(BBIP1):c.46A>T (p.Thr16Ser) rs946591185 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_015662.3(IFT172):c.2668G>A (p.Ala890Thr) rs202216329 0.00007
NM_015662.3(IFT172):c.3711+17A>G rs376488082 0.00007
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser) rs771817287 0.00007
NM_015910.7(WDPCP):c.2178C>T (p.Asp726=) rs367690400 0.00007
NM_015910.7(WDPCP):c.842G>A (p.Arg281His) rs3738877 0.00007
NM_020347.4(LZTFL1):c.881+18C>T rs535240697 0.00007
NM_020347.4(LZTFL1):c.881+19G>A rs773028690 0.00007
NM_024649.5(BBS1):c.1243G>A (p.Val415Met) rs150444177 0.00007
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 0.00007
NM_144596.4(TTC8):c.308G>T (p.Gly103Val) rs140710339 0.00007
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser) rs369075832 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_001195305.3(BBIP1):c.168A>G (p.Leu56=) rs990110859 0.00006
NM_001195305.3(BBIP1):c.175A>C (p.Lys59Gln) rs1332007527 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_006642.5(SDCCAG8):c.1935G>A (p.Leu645=) rs185944691 0.00006
NM_006642.5(SDCCAG8):c.220+20C>T rs200013862 0.00006
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) rs772544112 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 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_015662.3(IFT172):c.1006-10C>T rs545781319 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_015662.3(IFT172):c.915A>G (p.Thr305=) rs180855666 0.00006
NM_015910.7(WDPCP):c.1163G>A (p.Ser388Asn) rs780625068 0.00006
NM_020347.4(LZTFL1):c.56G>A (p.Arg19His) rs537401357 0.00006
NM_020347.4(LZTFL1):c.646G>A (p.Ala216Thr) rs146191659 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_025114.4(CEP290):c.189T>C (p.Ala63=) rs996908777 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 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.1797+13G>A rs769739310 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_033028.5(BBS4):c.643-6T>C rs753675755 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_152384.3(BBS5):c.308G>A (p.Ser103Asn) rs567175904 0.00006
NM_152384.3(BBS5):c.516T>C (p.Ser172=) rs758562179 0.00006
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286 0.00006
NM_152618.3(BBS12):c.1323G>A (p.Val441=) rs766332688 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_152618.3(BBS12):c.882T>C (p.Tyr294=) rs766149148 0.00006
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys) rs192288680 0.00006
NM_153704.6(TMEM67):c.652-13T>C rs376654537 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_153704.6(TMEM67):c.869+17T>A rs767408748 0.00006
NM_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.1231-16T>C rs781657811 0.00006
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362 0.00006
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002 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.1560G>A (p.Pro520=) rs779586578 0.00006
NM_198428.3(BBS9):c.2115+19A>G rs184420556 0.00006
NM_198428.3(BBS9):c.833G>A (p.Arg278Gln) rs754343745 0.00006
NM_006642.5(SDCCAG8):c.180C>T (p.Asp60=) rs377358593 0.00005
NM_006642.5(SDCCAG8):c.67+20T>C rs562137055 0.00005
NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys) rs576672580 0.00005
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=) rs150813870 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_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_015910.7(WDPCP):c.1793G>A (p.Gly598Asp) rs771029060 0.00005
NM_015910.7(WDPCP):c.825+19T>G rs780109239 0.00005
NM_024649.5(BBS1):c.1773G>A (p.Ala591=) rs147783319 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.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_025114.4(CEP290):c.441+18T>C rs756876705 0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_025114.4(CEP290):c.6358-4G>A rs369154492 0.00005
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu) rs967941621 0.00005
NM_033028.5(BBS4):c.1170C>T (p.Asn390=) rs376378002 0.00005
NM_033028.5(BBS4):c.76+18dup rs745516764 0.00005
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser) rs771231605 0.00005
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461 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_153704.6(TMEM67):c.1823G>A (p.Arg608His) rs146130549 0.00005
NM_176824.3(BBS7):c.1511+9A>G rs192602290 0.00005
NM_198428.3(BBS9):c.2449G>A (p.Asp817Asn) rs781476538 0.00005
NM_198428.3(BBS9):c.270C>T (p.Thr90=) rs747398844 0.00005
NM_001195305.3(BBIP1):c.142A>G (p.Met48Val) rs565980586 0.00004
NM_006642.5(SDCCAG8):c.415T>C (p.Cys139Arg) rs769333887 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.1609C>T (p.Leu537=) rs139275673 0.00004
NM_012210.4(TRIM32):c.1623G>A (p.Gln541=) rs201083322 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_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.3549T>C (p.Asp1183=) rs566100277 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.5179T>C (p.Cys1727Arg) rs149614625 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_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_020347.4(LZTFL1):c.583G>C (p.Asp195His) rs781428652 0.00004
NM_024649.5(BBS1):c.1474-14C>T rs369972079 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_024685.4(BBS10):c.197+13C>G rs758349250 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 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.4809T>C (p.Ala1603=) rs372592245 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00004
NM_025114.4(CEP290):c.6271-15C>T rs764251517 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 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.534+1G>T rs773862084 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.1311C>G (p.Thr437=) rs945847885 0.00004
NM_033028.5(BBS4):c.405+6T>C rs926942882 0.00004
NM_033028.5(BBS4):c.501C>T (p.His167=) rs745789574 0.00004
NM_033028.5(BBS4):c.712-14T>A rs375598833 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_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_152384.3(BBS5):c.475C>T (p.His159Tyr) rs757525125 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 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_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) rs780823805 0.00004
NM_153704.6(TMEM67):c.31A>G (p.Met11Val) rs758761945 0.00004
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln) rs769351856 0.00004
NM_176824.3(BBS7):c.1806C>G (p.Val602=) rs752970955 0.00004
NM_176824.3(BBS7):c.601+3A>G rs747555346 0.00004
NM_198428.3(BBS9):c.1198+13C>T rs753894974 0.00004
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp) rs1312526837 0.00004
NM_198428.3(BBS9):c.1276-17C>T rs199758277 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_001195305.3(BBIP1):c.245_248dup (p.Glu84fs) rs1210114050 0.00003
NM_001195305.3(BBIP1):c.263G>A (p.Arg88Gln) rs781040735 0.00003
NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe) rs750627875 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_006642.5(SDCCAG8):c.987G>A (p.Thr329=) rs778065772 0.00003
NM_006642.5(SDCCAG8):c.996A>G (p.Arg332=) rs142658750 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.1771G>A (p.Val591Met) rs753866301 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_015662.3(IFT172):c.1893G>A (p.Leu631=) rs774534899 0.00003
NM_015662.3(IFT172):c.2388A>G (p.Thr796=) rs750450341 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.4161-16C>T rs573518240 0.00003
NM_015662.3(IFT172):c.456G>A (p.Glu152=) rs771141815 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_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_024649.5(BBS1):c.1485T>C (p.Leu495=) rs373894194 0.00003
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr) rs765960634 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.684C>T (p.Leu228=) rs764202615 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 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.1287T>C (p.Asp429=) rs771468663 0.00003
NM_024685.4(BBS10):c.1A>G (p.Met1Val) rs752145803 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=) rs777382672 0.00003
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys) rs1337676817 0.00003
NM_025114.4(CEP290):c.442-20_442-19insA rs772322663 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu) rs371737956 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 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.1237C>T (p.Arg413Ter) rs147030232 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.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.380C>G (p.Thr127Arg) rs1191790453 0.00003
NM_031885.5(BBS2):c.612+17C>T rs745726316 0.00003
NM_031885.5(BBS2):c.635T>C (p.Met212Thr) rs764600063 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 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_033028.5(BBS4):c.928T>C (p.Leu310=) rs375714932 0.00003
NM_144596.4(TTC8):c.54G>A (p.Arg18=) rs745942356 0.00003
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly) rs749721461 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_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_170784.3(MKKS):c.822C>T (p.Asp274=) rs761342904 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_176824.3(BBS7):c.1654dup (p.Thr552fs) rs773052355 0.00003
NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe) rs764463463 0.00003
NM_198428.3(BBS9):c.1377C>T (p.Val459=) rs763552337 0.00003
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala) rs369146555 0.00003
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162 0.00003
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856 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_198428.3(BBS9):c.2487C>T (p.Thr829=) rs746373450 0.00003
NM_198428.3(BBS9):c.528T>A (p.Pro176=) rs757308943 0.00003
NM_001195305.3(BBIP1):c.37+3A>T rs1247299009 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.1728C>T (p.Arg576=) rs774825642 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_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.1693-19G>T rs202039261 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.402+2T>G rs774548930 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.4228G>T (p.Val1410Leu) rs777573615 0.00002
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala) rs769170592 0.00002
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=) rs530107456 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_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.634-12T>A rs779141559 0.00002
NM_015910.7(WDPCP):c.771T>A (p.Ser257=) rs764847886 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_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.606C>T (p.Thr202=) rs372141621 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.1244del (p.His415fs) rs760642305 0.00002
NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser) rs770239827 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu) rs762432475 0.00002
NM_024685.4(BBS10):c.402A>G (p.Leu134=) rs762331843 0.00002
NM_024685.4(BBS10):c.559C>A (p.His187Asn) rs753964273 0.00002
NM_024685.4(BBS10):c.637T>C (p.Leu213=) rs367795705 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_024685.4(BBS10):c.861A>G (p.Gln287=) rs753223078 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp) rs372963403 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp) rs750466529 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103 0.00002
NM_025114.4(CEP290):c.4030-14A>G rs910563325 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=) rs778794581 0.00002
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=) rs747996508 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 0.00002
NM_025114.4(CEP290):c.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_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.1780C>T (p.Arg594Ter) rs762047808 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_031885.5(BBS2):c.382T>C (p.Leu128=) rs374060552 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_031885.5(BBS2):c.941-11C>T rs763441369 0.00002
NM_031885.5(BBS2):c.941-6G>A rs746397118 0.00002
NM_033028.4(BBS4):c.-44G>C rs886051465 0.00002
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter) rs914062190 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_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_152618.3(BBS12):c.166C>T (p.Leu56Phe) rs751515113 0.00002
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln) rs776677392 0.00002
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr) rs149475825 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00002
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val) rs758944470 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys) rs768183184 0.00002
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly) rs115766095 0.00002
NM_153704.6(TMEM67):c.979-16C>T rs757127826 0.00002
NM_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.1305+13A>G rs773872987 0.00002
NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys) rs747889031 0.00002
NM_176824.3(BBS7):c.1755A>G (p.Thr585=) rs1725022392 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_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.2633-15T>C rs757904510 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_001195305.3(BBIP1):c.150G>A (p.Leu50=) rs767511014 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_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001278293.3(ARL6):c.432T>A (p.Ser144=) rs1324293417 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.1503T>C (p.Asp501=) rs757292520 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.2004G>A (p.Lys668=) rs754838222 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_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.474A>G (p.Glu158=) rs955416816 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_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.1314C>G (p.Pro438=) rs1435972299 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.1525-1G>A rs370540673 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.1929T>C (p.Ile643=) rs375541145 0.00001
NM_015662.3(IFT172):c.2025C>T (p.Gly675=) rs762659921 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.2536C>T (p.Arg846Ter) rs761095604 0.00001
NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr) rs776148073 0.00001
NM_015662.3(IFT172):c.270C>A (p.Ile90=) rs759058747 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_015662.3(IFT172):c.2796G>A (p.Glu932=) rs566830176 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.337-11C>T rs745921292 0.00001
NM_015662.3(IFT172):c.3530+11C>G rs777469179 0.00001
NM_015662.3(IFT172):c.354G>A (p.Leu118=) rs757988462 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.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=) rs764778967 0.00001
NM_015662.3(IFT172):c.4014A>G (p.Val1338=) rs527544045 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.4095C>T (p.Ile1365=) rs747729113 0.00001
NM_015662.3(IFT172):c.4134G>A (p.Lys1378=) rs1039315733 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.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.4539+11G>A rs756814532 0.00001
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys) rs764604255 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 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.5124C>A (p.Asn1708Lys) rs868748622 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.161-14C>T rs755586280 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.1941G>A (p.Gly647=) rs765502945 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.210G>A (p.Ala70=) rs961809737 0.00001
NM_015910.7(WDPCP):c.2142T>C (p.Asn714=) rs769550847 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.325-17T>C rs542348306 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.654C>T (p.Pro218=) rs375737055 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_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_020347.4(LZTFL1):c.361G>A (p.Glu121Lys) rs774285913 0.00001
NM_020347.4(LZTFL1):c.384+12G>T rs538612017 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_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.1111-2A>G rs761969357 0.00001
NM_024649.5(BBS1):c.1144G>A (p.Gly382Arg) rs377297999 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 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.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln) rs779828966 0.00001
NM_024649.5(BBS1):c.1470C>T (p.Ala490=) rs772427832 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.1554G>T (p.Leu518=) rs760568652 0.00001
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837 0.00001
NM_024649.5(BBS1):c.1776C>T (p.Ala592=) rs1489468740 0.00001
NM_024649.5(BBS1):c.199C>T (p.Arg67Cys) rs767385250 0.00001
NM_024649.5(BBS1):c.33C>A (p.Ala11=) rs1336755113 0.00001
NM_024649.5(BBS1):c.432+17G>C rs752185178 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 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.1000_1001insGA (p.Leu334Ter) rs1555202657 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 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.2142T>G (p.Val714=) rs1463359253 0.00001
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly) rs775747309 0.00001
NM_024685.4(BBS10):c.6A>G (p.Leu2=) rs1333383849 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 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_025114.4(CEP290):c.102+13T>C rs773325354 0.00001
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser) rs891165640 0.00001
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) rs781183605 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn) rs750163383 0.00001
NM_025114.4(CEP290):c.1623+2C>A rs2039218006 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1712-9T>C rs1412442444 0.00001
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu) rs770829686 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.1977G>A (p.Lys659=) rs1313927656 0.00001
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) rs769216455 0.00001
NM_025114.4(CEP290):c.2448T>C (p.Arg816=) rs371851348 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_025114.4(CEP290):c.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.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser) rs1276779845 0.00001
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu) rs760934388 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956 0.00001
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=) rs747972826 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.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.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.441+14T>G rs765642954 0.00001
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672 0.00001
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val) rs751408783 0.00001
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val) rs760059883 0.00001
NM_025114.4(CEP290):c.4812+6A>T rs769525877 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.521A>T (p.Glu174Val) rs774484028 0.00001
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg) rs773591434 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala) rs1354836663 0.00001
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=) rs766355219 0.00001
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly) rs756608200 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=) rs1175295227 0.00001
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile) rs753687613 0.00001
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=) rs374183249 0.00001
NM_025114.4(CEP290):c.6270+19A>G rs1181927624 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser) rs777841957 0.00001
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=) rs1409872235 0.00001
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=) rs755447230 0.00001
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr) rs1212611161 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.7130-16A>G rs1430895394 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 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.117+17G>T rs201119943 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.1530T>G (p.Val510=) rs545597883 0.00001
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val) rs374028829 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys) rs752749569 0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) rs201063733 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr) rs771822557 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 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.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.612+14C>G rs770986334 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_031885.5(BBS2):c.810T>C (p.Asp270=) rs1309546092 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.408G>A (p.Glu136=) rs201881253 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.883C>T (p.Arg295Ter) rs775710800 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.114+12C>A rs372634452 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_144596.4(TTC8):c.711-16A>C rs747396066 0.00001
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser) rs754978707 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 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.104C>A (p.Ser35Ter) rs1381368546 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 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.1375C>T (p.Gln459Ter) rs1269565757 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.1884C>T (p.Asp628=) rs1463043869 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.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_152618.3(BBS12):c.382G>A (p.Val128Ile) rs375439566 0.00001
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter) rs1194574169 0.00001
NM_152618.3(BBS12):c.508A>G (p.Ile170Val) rs1218692709 0.00001
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200 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_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg) rs1455416289 0.00001
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=) rs747752903 0.00001
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile) rs774701716 0.00001
NM_153704.6(TMEM67):c.1675-13T>A rs144538020 0.00001
NM_153704.6(TMEM67):c.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.2440-11T>C rs767482660 0.00001
NM_153704.6(TMEM67):c.2662-4T>C rs374804519 0.00001
NM_153704.6(TMEM67):c.2765-4A>C rs1242768505 0.00001
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe) rs375047471 0.00001
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro) rs767886819 0.00001
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu) rs371462532 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=) rs966581270 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_153704.6(TMEM67):c.882T>C (p.Leu294=) rs200110207 0.00001
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe) rs1376394849 0.00001
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met) rs779950527 0.00001
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly) rs750006477 0.00001
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.1360C>T (p.Leu454=) rs1210784201 0.00001
NM_170784.3(MKKS):c.146G>T (p.Gly49Val) rs528833454 0.00001
NM_170784.3(MKKS):c.1695T>C (p.Val565=) rs554395344 0.00001
NM_170784.3(MKKS):c.210A>C (p.Thr70=) rs1471154105 0.00001
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_170784.3(MKKS):c.380del (p.Cys127fs) rs867346158 0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter) rs142394051 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_170784.3(MKKS):c.986-1G>A rs200633158 0.00001
NM_176824.3(BBS7):c.1038-16A>G rs201278442 0.00001
NM_176824.3(BBS7):c.1056G>A (p.Leu352=) rs377163503 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.2136C>T (p.Phe712=) rs199782217 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.838C>T (p.Arg280Ter) rs151275562 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_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.1464T>C (p.Ser488=) rs200850911 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.1790-7C>T rs746901030 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.2448C>T (p.Cys816=) rs375606348 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_001195305.3(BBIP1):c.148_150dup (p.Leu50dup) rs991079395
NM_001278293.3(ARL6):c.143T>A (p.Leu48His) rs895572972
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys) rs201736026
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter) rs964673995
NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile) rs370072966
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys) rs753709808
NM_006642.5(SDCCAG8):c.1617-5T>C rs904057670
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_006642.5(SDCCAG8):c.597C>T (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter) rs149038104
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338
NM_012210.4(TRIM32):c.*152T>G rs868402796
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs) rs1564217246
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.1560del (p.Cys521fs) rs1588218453
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.216C>T (p.Ser72=) rs1860954629
NM_012210.4(TRIM32):c.378A>G (p.Ala126=) rs1860970214
NM_012210.4(TRIM32):c.422C>A (p.Ala141Glu) rs930137730
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
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.939G>T (p.Ala313=) rs375442860
NM_012210.4(TRIM32):c.986C>G (p.Pro329Arg) rs377510422
NM_012210.4(TRIM32):c.98G>A (p.Arg33His) rs199863390
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.1525-6C>G rs201231401
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu) rs765731241
NM_015662.3(IFT172):c.184-23dup rs747166252
NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu) rs371919234
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
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.3663G>A (p.Gly1221=) rs892273103
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.4107C>T (p.Ile1369=) rs747023555
NM_015662.3(IFT172):c.4116G>A (p.Glu1372=) rs758268726
NM_015662.3(IFT172):c.4387T>C (p.Leu1463=) rs1455837031
NM_015662.3(IFT172):c.44G>T (p.Gly15Val) rs1572838053
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu) rs540171862
NM_015662.3(IFT172):c.463G>A (p.Val155Met) rs149969430
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=) rs369400518
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs) rs587777078
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.5044C>T (p.Arg1682Ter) rs1329856696
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.123G>A (p.Leu41=) rs779322047
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.1625-12T>G rs1014640074
NM_015910.7(WDPCP):c.172G>A (p.Gly58Arg) rs190629484
NM_015910.7(WDPCP):c.1809_1812+6del rs2103953112
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter) rs2105500878
NM_015910.7(WDPCP):c.633+17A>T rs373456348
NM_015910.7(WDPCP):c.73C>A (p.Gln25Lys) rs1324126661
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_020347.4(LZTFL1):c.128+13del rs750701550
NM_020347.4(LZTFL1):c.281G>C (p.Trp94Ser) rs748688183
NM_020347.4(LZTFL1):c.55C>A (p.Arg19Ser) rs759640480
NM_024296.5(CCDC28B):c.462G>A (p.Glu154=) rs6697820
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
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.1608+1G>A rs1856758582
NM_024649.5(BBS1):c.1752G>A (p.Met584Ile) rs769773058
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
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.319dup (p.Ala107fs) rs1856010064
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.830+12del rs1343720111
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.887del (p.Ile296fs) rs794727006
NM_024649.5(BBS1):c.910G>T (p.Val304Leu) rs1228755309
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1074G>T (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1122dup (p.Ile375fs) rs753604828
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
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.197+1G>T rs886042729
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.2T>C (p.Met1Thr) rs1382481529
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
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.648C>T (p.Asp216=) rs748037727
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala) rs781723681
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter) rs1476664656
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) rs2136091654
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val) rs1459958084
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
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.2251C>T (p.Arg751Ter) rs753884599
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.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) rs955251811
NM_025114.4(CEP290):c.2483+5A>G rs2137661741
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser) rs1443848622
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys) rs1039332206
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala) rs898733071
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp) rs372918770
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del) rs749010290
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met) rs375065584
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala) rs2040372439
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu) rs2137270029
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=) rs1006145739
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg) rs1157241942
NM_025114.4(CEP290):c.442-23_442-20del rs746139755
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.4599C>T (p.His1533=) rs932264519
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4705-7A>G rs1367159797
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.5013-30CA[5] rs759447937
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.5227-23dup rs747878752
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp) rs2136964084
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.6135+10T>C rs371097588
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp) rs191613017
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6523-17_6523-15del rs751359519
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile) rs1480802620
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.670-13_670-12del rs941686794
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.7129+8A>G rs2136623486
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu) rs1478582091
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) rs768777116
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.99C>T (p.Ser33=) rs866917306
NM_031885.3(BBS2):c.-163C>T rs750434595
NM_031885.5(BBS2):c.1123G>C (p.Gly375Arg) rs1018314879
NM_031885.5(BBS2):c.117+7G>A rs780862523
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.1413A>G (p.Val471=) rs35294865
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.1649_1650del (p.Leu550fs) rs750146549
NM_031885.5(BBS2):c.1845T>C (p.Ala615=) rs1964133464
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.2059+12_2059+13del rs746917866
NM_031885.5(BBS2):c.216C>T (p.Asn72=) rs375853147
NM_031885.5(BBS2):c.342A>G (p.Arg114=) rs2144192731
NM_031885.5(BBS2):c.365C>T (p.Ala122Val) rs17856449
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.472del rs587777826
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.774del (p.Asn258fs) rs777218224
NM_031885.5(BBS2):c.8T>C (p.Leu3Pro) rs1964870972
NM_031885.5(BBS2):c.941-8C>G rs373354290
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.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.1248G>A (p.Glu416=) rs914591602
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs) rs1281334523
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.24+1G>T rs759520211
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_033028.5(BBS4):c.712-15G>C rs2065814889
NM_033028.5(BBS4):c.943T>C (p.Leu315=) rs1433729329
NM_144596.4(TTC8):c.1464G>A (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.324C>T (p.Ala108=) rs571883979
NM_144596.4(TTC8):c.488C>T (p.Thr163Met) rs758942370
NM_144596.4(TTC8):c.983C>T (p.Ala328Val) rs755533153
NM_152384.3(BBS5):c.211G>A (p.Val71Ile) rs1397496181
NM_152384.3(BBS5):c.259-3C>G rs564412855
NM_152384.3(BBS5):c.303dup (p.Asn102Ter) rs1683515617
NM_152384.3(BBS5):c.569A>C (p.His190Pro) rs755408078
NM_152384.3(BBS5):c.59+5G>A rs2105290053
NM_152384.3(BBS5):c.619-16_619-15del rs762885469
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs) rs2150736865
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs) rs1553941391
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1261C>T (p.Arg421Cys) rs199596849
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) rs766741204
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.1663_1667del (p.Glu555fs) rs2150737598
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter) rs759455327
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152618.3(BBS12):c.1917A>G (p.Glu639=) rs2150737890
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del) rs758008862
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs) rs746478265
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.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.555C>T (p.Thr185=) rs1800894181
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg) rs994493028
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del) rs745504524
NM_152618.3(BBS12):c.869_873del (p.Val290fs) rs1283655166
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del) rs779801356
NM_153704.6(TMEM67):c.1288+15C>T rs1057523004
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln) rs199708882
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu) rs1486419446
NM_153704.6(TMEM67):c.1675-10dup rs752404927
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr) rs2130780313
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val) rs758638902
NM_153704.6(TMEM67):c.313-13dup rs367575555
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg) rs143495661
NM_170784.3(MKKS):c.1162-12del rs781066396
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.207C>T (p.Val69=) rs1382659817
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile) rs776936558
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly) rs1331122376
NM_170784.3(MKKS):c.63_64del (p.Arg21fs) rs754066841
NM_170784.3(MKKS):c.717C>T (p.Leu239=) rs1214711344
NM_170784.3(MKKS):c.812C>T (p.Ala271Val) rs772754363
NM_176824.3(BBS7):c.1002del (p.Asn335fs) rs762782183
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1158A>T (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.1231-15dup rs747444432
NM_176824.3(BBS7):c.1372-19C>G rs1725398365
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser) rs763160690
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
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.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.600C>A (p.Gly200=) rs370053625
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.934+17T>C rs1165897878
NM_177965.4(CFAP418):c.124del (p.Arg42fs) rs1563477144
NM_177965.4(CFAP418):c.177del (p.Glu60fs) rs1811931460
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_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.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1468del (p.Tyr490fs) rs1454474832
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter) rs2128667543
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) rs948418225
NM_198428.3(BBS9):c.1790-17T>C rs765367261
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.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.195C>A (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys) rs184994140
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs) rs1266192229
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.2115+17dup rs1826376756
NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn) rs1393453305
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
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.531C>A (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.531C>T (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.563C>T (p.Ser188Phe) rs2128312652
NM_198428.3(BBS9):c.702+15dup rs756949696

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