NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_153717.3(EVC):c.1694del (p.Ala565fs)
|
rs753014919
|
0.00012
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)
|
rs752924362
|
0.00008
|
NM_001369.3(DNAH5):c.1089+1G>A
|
rs574586008
|
0.00006
|
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)
|
rs200901816
|
0.00006
|
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)
|
rs200669099
|
0.00006
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter)
|
rs571919972
|
0.00004
|
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)
|
rs772624348
|
0.00004
|
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)
|
rs387906312
|
0.00004
|
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter)
|
rs376091780
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)
|
rs1277577195
|
0.00004
|
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)
|
rs121918197
|
0.00004
|
NM_023036.6(DNAI2):c.739C>T (p.Arg247Ter)
|
rs545536618
|
0.00004
|
NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter)
|
rs137852998
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_031885.5(BBS2):c.534+1G>T
|
rs773862084
|
0.00004
|
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs)
|
rs754698253
|
0.00003
|
NM_001369.3(DNAH5):c.5647C>T (p.Arg1883Ter)
|
rs575017579
|
0.00003
|
NM_001369.3(DNAH5):c.5710-2A>G
|
rs548521732
|
0.00003
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
0.00003
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter)
|
rs747900131
|
0.00002
|
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)
|
rs745918507
|
0.00002
|
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)
|
rs797045228
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)
|
rs762047808
|
0.00002
|
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)
|
rs764164384
|
0.00002
|
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)
|
rs121908424
|
0.00002
|
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)
|
rs886039500
|
0.00001
|
NM_001369.3(DNAH5):c.13426C>T (p.Arg4476Ter)
|
rs767716511
|
0.00001
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
NM_001369.3(DNAH5):c.5114+1G>C
|
rs878854457
|
0.00001
|
NM_001369.3(DNAH5):c.5177T>C (p.Leu1726Pro)
|
rs138890576
|
0.00001
|
NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter)
|
rs748618094
|
0.00001
|
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter)
|
rs773711154
|
0.00001
|
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)
|
rs375053470
|
0.00001
|
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter)
|
rs775946081
|
0.00001
|
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter)
|
rs781469274
|
0.00001
|
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)
|
rs560398270
|
0.00001
|
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer)
|
rs755136231
|
0.00001
|
NM_001369.3(DNAH5):c.8498G>A (p.Arg2833His)
|
rs753130398
|
0.00001
|
NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter)
|
rs769054713
|
0.00001
|
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter)
|
rs863224504
|
0.00001
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)
|
rs1192396248
|
0.00001
|
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs)
|
rs398122992
|
0.00001
|
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter)
|
rs940576720
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)
|
rs1490504758
|
0.00001
|
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)
|
rs539612316
|
0.00001
|
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs)
|
rs878854998
|
0.00001
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter)
|
rs1490127694
|
0.00001
|
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)
|
rs1198051503
|
0.00001
|
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter)
|
rs1303829798
|
0.00001
|
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)
|
rs776563011
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter)
|
rs751477523
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)
|
rs145665129
|
0.00001
|
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)
|
rs762482919
|
0.00001
|
NM_023036.6(DNAI2):c.883C>T (p.Arg295Ter)
|
rs200708870
|
0.00001
|
NM_024649.5(BBS1):c.118del (p.Cys40fs)
|
rs1490351829
|
0.00001
|
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)
|
rs745656125
|
0.00001
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)
|
rs786204575
|
0.00001
|
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter)
|
rs1356713858
|
0.00001
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
0.00001
|
NM_031885.5(BBS2):c.563del (p.Ile188fs)
|
rs1367927635
|
0.00001
|
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter)
|
rs1273181642
|
0.00001
|
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)
|
rs121908180
|
0.00001
|
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)
|
rs779690256
|
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.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_153717.3(EVC):c.1777-2A>G
|
rs909612975
|
0.00001
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001369.3(DNAH5):c.13285C>T (p.Arg4429Ter)
|
rs1743041017
|
|
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)
|
rs775696136
|
|
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter)
|
rs778780449
|
|
NM_001369.3(DNAH5):c.2261dup (p.Met754fs)
|
rs672601333
|
|
NM_001369.3(DNAH5):c.3291dup (p.Pro1098fs)
|
rs762081081
|
|
NM_001369.3(DNAH5):c.3598+2T>C
|
rs981267400
|
|
NM_001369.3(DNAH5):c.5482C>T (p.Gln1828Ter)
|
rs1354919632
|
|
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs)
|
rs752925056
|
|
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)
|
rs1273352530
|
|
NM_001369.3(DNAH5):c.6343del (p.Ile2114_Ile2115insTer)
|
rs1474945018
|
|
NM_001369.3(DNAH5):c.7914dup (p.Arg2639fs)
|
rs749082955
|
|
NM_001369.3(DNAH5):c.8167C>T (p.Gln2723Ter)
|
rs1309660408
|
|
NM_001369.3(DNAH5):c.90_105dup (p.Arg36fs)
|
rs1778379197
|
|
NM_001369.3(DNAH5):c.9365del (p.Ala3121_Leu3122insTer)
|
rs1060501460
|
|
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer)
|
rs1372103295
|
|
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs)
|
rs1218465638
|
|
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)
|
rs780252175
|
|
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs)
|
rs747272625
|
|
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)
|
rs768759374
|
|
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs)
|
rs1476205467
|
|
NM_001378454.1(ALMS1):c.11877_11878del (p.Ser3960fs)
|
rs758732551
|
|
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)
|
rs761292021
|
|
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)
|
rs771459937
|
|
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs)
|
rs759603306
|
|
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
|
rs28730854
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs)
|
rs1553404358
|
|
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs)
|
rs1246023978
|
|
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs)
|
rs1370417967
|
|
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter)
|
rs549857076
|
|
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter)
|
rs1426009756
|
|
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)
|
rs376244626
|
|
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)
|
rs368248592
|
|
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)
|
rs778149316
|
|
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)
|
rs121918199
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.811del (p.His271fs)
|
rs1968969593
|
|
NM_023036.6(DNAI2):c.1422del (p.Thr475fs)
|
rs1240172375
|
|
NM_023036.6(DNAI2):c.1494+1G>A
|
rs397515565
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)
|
rs1565809478
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.39_46del (p.Ala14fs)
|
rs1555202806
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710
|
|
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)
|
rs1555521501
|
|
NM_031885.5(BBS2):c.613-1G>C
|
rs2144163316
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)
|
rs759455327
|
|
NM_152618.3(BBS12):c.670dup (p.Thr224fs)
|
rs1339432710
|
|
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)
|
rs767913372
|
|
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)
|
rs1553873969
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)
|
rs1329006994
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792
|
|