NM_024649.5(BBS1):c.-72C>G
|
rs1791688
|
0.99902
|
NM_033028.5(BBS4):c.77-6G>A
|
rs8033604
|
0.94438
|
NM_033028.5(BBS4):c.76+19G>T
|
rs4777527
|
0.94399
|
NM_176824.3(BBS7):c.1891-12C>A
|
rs2706793
|
0.79185
|
NM_024649.5(BBS1):c.*7A>G
|
rs8432
|
0.66464
|
NM_015910.7(WDPCP):c.1915+13G>A
|
rs992214
|
0.63738
|
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)
|
rs2277598
|
0.52665
|
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)
|
rs309370
|
0.42071
|
NM_176824.3(BBS7):c.1890+16G>A
|
rs1507994
|
0.40768
|
NM_024649.5(BBS1):c.*955G>A
|
rs1791686
|
0.33323
|
NM_024649.5(BBS1):c.1180+116T>C
|
rs3819247
|
0.24920
|
NM_024649.5(BBS1):c.724-8G>C
|
rs10896125
|
0.24158
|
NM_024649.5(BBS1):c.*840A>G
|
rs3741360
|
0.23322
|
NM_024649.5(BBS1):c.518+55C>T
|
rs2276406
|
0.21160
|
NM_024649.5(BBS1):c.378G>A (p.Leu126=)
|
rs2298806
|
0.21158
|
NM_024649.5(BBS1):c.1608+95C>T
|
rs2305532
|
0.21152
|
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)
|
rs11373
|
0.20545
|
NM_152618.3(BBS12):c.1410C>T (p.Cys470=)
|
rs13135445
|
0.19015
|
NM_024649.5(BBS1):c.1413C>T (p.Leu471=)
|
rs3816492
|
0.17957
|
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr)
|
rs11773504
|
0.17589
|
NM_152618.3(BBS12):c.1380G>C (p.Val460=)
|
rs13135766
|
0.16051
|
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)
|
rs13135778
|
0.15902
|
NM_152618.3(BBS12):c.1872A>G (p.Gln624=)
|
rs13102440
|
0.15807
|
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)
|
rs7665271
|
0.03441
|
NM_031885.5(BBS2):c.1659+3A>G
|
rs6499838
|
0.03415
|
NM_152618.3(BBS12):c.1209G>A (p.Val403=)
|
rs17006092
|
0.03229
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_152618.3(BBS12):c.1062G>C (p.Val354=)
|
rs34296401
|
0.03153
|
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn)
|
rs28507107
|
0.02805
|
NM_024649.5(BBS1):c.*428G>C
|
rs41302425
|
0.02701
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln)
|
rs77298332
|
0.02147
|
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)
|
rs16957538
|
0.02076
|
NM_031885.5(BBS2):c.612+12C>A
|
rs77019529
|
0.01713
|
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)
|
rs73688160
|
0.01649
|
NM_024649.5(BBS1):c.*1215T>C
|
rs115354748
|
0.01605
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_024296.5(CCDC28B):c.330C>T (p.Phe110=)
|
rs41263993
|
0.01032
|
NM_198428.3(BBS9):c.2299-20A>C
|
rs17727583
|
0.01007
|
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)
|
rs61734468
|
0.00905
|
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln)
|
rs34218557
|
0.00872
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_176824.3(BBS7):c.186C>T (p.Pro62=)
|
rs35194418
|
0.00662
|
NM_024649.5(BBS1):c.*187C>T
|
rs148117167
|
0.00609
|
NM_176824.3(BBS7):c.1505A>G (p.His502Arg)
|
rs114718913
|
0.00589
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
NM_024649.5(BBS1):c.1020C>G (p.Ser340=)
|
rs35209408
|
0.00470
|
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)
|
rs35690634
|
0.00435
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)
|
rs61764067
|
0.00375
|
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)
|
rs116483694
|
0.00287
|
NM_024649.5(BBS1):c.831-5C>T
|
rs56177555
|
0.00285
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_198428.3(BBS9):c.2632+9C>A
|
rs148654647
|
0.00242
|
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)
|
rs150399299
|
0.00219
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)
|
rs150553044
|
0.00194
|
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)
|
rs138744839
|
0.00115
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)
|
rs146752751
|
0.00076
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)
|
rs146052054
|
0.00066
|
NM_024649.5(BBS1):c.*219A>G
|
rs74451472
|
0.00057
|
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)
|
rs139278612
|
0.00048
|
NM_024649.5(BBS1):c.*1349T>C
|
rs752758324
|
0.00035
|
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu)
|
rs151203205
|
0.00031
|
NM_024649.5(BBS1):c.1695+10G>A
|
rs200276861
|
0.00029
|
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val)
|
rs144492051
|
0.00028
|
NM_024649.5(BBS1):c.1194C>A (p.Ile398=)
|
rs200577824
|
0.00023
|
NM_024649.5(BBS1):c.432+5A>G
|
rs373923317
|
0.00021
|
NM_024649.5(BBS1):c.*522C>T
|
rs886048528
|
0.00020
|
NM_024649.5(BBS1):c.-3A>G
|
rs549210746
|
0.00019
|
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr)
|
rs145094101
|
0.00019
|
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu)
|
rs141255069
|
0.00016
|
NM_024649.5(BBS1):c.*104G>C
|
rs554182779
|
0.00014
|
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
|
rs145718265
|
0.00014
|
NM_024649.5(BBS1):c.1474-8C>T
|
rs398124402
|
0.00013
|
NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg)
|
rs199711874
|
0.00012
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr)
|
rs760237505
|
0.00011
|
NM_024649.5(BBS1):c.981C>T (p.Pro327=)
|
rs142243482
|
0.00011
|
NM_024649.5(BBS1):c.479+20T>C
|
rs756451521
|
0.00010
|
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp)
|
rs767395683
|
0.00009
|
NM_024649.5(BBS1):c.1110+15C>T
|
rs371084544
|
0.00009
|
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)
|
rs148948642
|
0.00009
|
NM_024649.5(BBS1):c.54G>A (p.Glu18=)
|
rs761128852
|
0.00009
|
NM_024649.5(BBS1):c.6C>T (p.Ala2=)
|
rs143592479
|
0.00009
|
NM_001278293.3(ARL6):c.350-7C>T
|
rs375454860
|
0.00008
|
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)
|
rs144833282
|
0.00008
|
NM_024649.5(BBS1):c.1243G>A (p.Val415Met)
|
rs150444177
|
0.00007
|
NM_024649.5(BBS1):c.*473C>T
|
rs886048526
|
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.1535G>A (p.Arg512His)
|
rs202205304
|
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.744C>T (p.Pro248=)
|
rs528073027
|
0.00006
|
NM_024649.5(BBS1):c.802C>T (p.Arg268Cys)
|
rs760381850
|
0.00006
|
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)
|
rs201872547
|
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_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.163G>A (p.Val55Met)
|
rs181765153
|
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.274T>C (p.Phe92Leu)
|
rs778339359
|
0.00004
|
NM_024649.5(BBS1):c.432+13C>T
|
rs759287238
|
0.00004
|
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln)
|
rs759253107
|
0.00004
|
NM_024649.5(BBS1):c.830+12C>T
|
rs781283997
|
0.00004
|
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn)
|
rs780169168
|
0.00004
|
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr)
|
rs368510687
|
0.00004
|
NM_024649.5(BBS1):c.908T>C (p.Val303Ala)
|
rs750668484
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe)
|
rs750627875
|
0.00003
|
NM_024649.5(BBS1):c.*1217C>A
|
rs1057306658
|
0.00003
|
NM_024649.5(BBS1):c.1067G>A (p.Arg356His)
|
rs771291825
|
0.00003
|
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)
|
rs368302072
|
0.00003
|
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)
|
rs200116631
|
0.00003
|
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=)
|
rs781014949
|
0.00003
|
NM_024649.5(BBS1):c.1485T>C (p.Leu495=)
|
rs373894194
|
0.00003
|
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu)
|
rs369843749
|
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_024649.5(BBS1):c.*259C>A
|
rs1040142241
|
0.00002
|
NM_024649.5(BBS1):c.*950C>T
|
rs1344507018
|
0.00002
|
NM_024649.5(BBS1):c.1110+329C>T
|
rs571170303
|
0.00002
|
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)
|
rs183771956
|
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.1585T>G (p.Ser529Ala)
|
rs1316472200
|
0.00002
|
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys)
|
rs184614863
|
0.00002
|
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr)
|
rs768098877
|
0.00002
|
NM_024649.5(BBS1):c.1695+9C>T
|
rs756514477
|
0.00002
|
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg)
|
rs1355873337
|
0.00002
|
NM_024649.5(BBS1):c.243G>A (p.Pro81=)
|
rs141429900
|
0.00002
|
NM_024649.5(BBS1):c.329C>A (p.Pro110His)
|
rs750288768
|
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.479+2T>G
|
rs1353098253
|
0.00002
|
NM_024649.5(BBS1):c.518+5G>A
|
rs1428618323
|
0.00002
|
NM_024649.5(BBS1):c.606C>T (p.Thr202=)
|
rs372141621
|
0.00002
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
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.164T>C (p.Leu55Pro)
|
rs1460517643
|
0.00002
|
NM_152384.3(BBS5):c.226A>G (p.Ile76Val)
|
rs763696357
|
0.00002
|
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)
|
rs515726134
|
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_001278293.3(ARL6):c.506G>C (p.Gly169Ala)
|
rs104893679
|
0.00001
|
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln)
|
rs764302265
|
0.00001
|
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)
|
rs544657165
|
0.00001
|
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)
|
rs515726136
|
0.00001
|
NM_024649.5(BBS1):c.*1088G>A
|
rs886048531
|
0.00001
|
NM_024649.5(BBS1):c.*10T>A
|
rs765633556
|
0.00001
|
NM_024649.5(BBS1):c.*1274A>G
|
rs192684991
|
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.1121C>G (p.Thr374Ser)
|
rs759275651
|
0.00001
|
NM_024649.5(BBS1):c.1144G>A (p.Gly382Arg)
|
rs377297999
|
0.00001
|
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp)
|
rs143495423
|
0.00001
|
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)
|
rs1160669210
|
0.00001
|
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln)
|
rs772235333
|
0.00001
|
NM_024649.5(BBS1):c.1181-6C>T
|
rs368445790
|
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.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
NM_024649.5(BBS1):c.1320A>G (p.Arg440=)
|
rs1430151544
|
0.00001
|
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala)
|
rs765829383
|
0.00001
|
NM_024649.5(BBS1):c.1383A>G (p.Leu461=)
|
rs557739576
|
0.00001
|
NM_024649.5(BBS1):c.1395C>T (p.Arg465=)
|
rs756550025
|
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.1467C>T (p.His489=)
|
rs749008475
|
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.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala)
|
rs1856753561
|
0.00001
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
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.1676G>A (p.Gly559Asp)
|
rs544767888
|
0.00001
|
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys)
|
rs761304709
|
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.242C>T (p.Pro81Leu)
|
rs1479663514
|
0.00001
|
NM_024649.5(BBS1):c.280A>G (p.Met94Val)
|
rs1376711744
|
0.00001
|
NM_024649.5(BBS1):c.33C>A (p.Ala11=)
|
rs1336755113
|
0.00001
|
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)
|
rs878855095
|
0.00001
|
NM_024649.5(BBS1):c.432+17G>C
|
rs752185178
|
0.00001
|
NM_024649.5(BBS1):c.433-5C>T
|
rs542052064
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
NM_024649.5(BBS1):c.441C>T (p.Ile147=)
|
rs544997496
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_024649.5(BBS1):c.447C>T (p.Pro149=)
|
rs763738657
|
0.00001
|
NM_024649.5(BBS1):c.48-2A>C
|
rs764245266
|
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.518+1G>A
|
rs771517209
|
0.00001
|
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser)
|
rs1207942097
|
0.00001
|
NM_024649.5(BBS1):c.587G>A (p.Arg196Gln)
|
rs142769864
|
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.636C>T (p.Asp212=)
|
rs775900681
|
0.00001
|
NM_024649.5(BBS1):c.646G>A (p.Val216Met)
|
rs764165386
|
0.00001
|
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)
|
rs761760689
|
0.00001
|
NM_024649.5(BBS1):c.708C>G (p.Phe236Leu)
|
rs1482951221
|
0.00001
|
NM_024649.5(BBS1):c.723+1G>C
|
rs1295318869
|
0.00001
|
NM_024649.5(BBS1):c.723+7G>A
|
rs770220426
|
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_024649.5(BBS1):c.803G>A (p.Arg268His)
|
rs375949076
|
0.00001
|
NM_024649.5(BBS1):c.830+2T>C
|
rs1856209722
|
0.00001
|
NM_024649.5(BBS1):c.830+3A>G
|
rs747229201
|
0.00001
|
NM_024649.5(BBS1):c.851del (p.Tyr284fs)
|
rs587777830
|
0.00001
|
NM_024649.5(BBS1):c.867C>T (p.Ser289=)
|
rs776322401
|
0.00001
|
NM_024649.5(BBS1):c.952-1G>A
|
rs1057516661
|
0.00001
|
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)
|
rs778431173
|
0.00001
|
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)
|
rs28938468
|
0.00001
|
NM_033028.5(BBS4):c.332+8T>C
|
rs1456405256
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
GRCh37/hg19 11q13.2(chr11:66274870-66292647)x1
|
|
|
GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1
|
|
|
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val)
|
rs373953762
|
|
NM_001278293.3(ARL6):c.143T>A (p.Leu48His)
|
rs895572972
|
|
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys)
|
rs201736026
|
|
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)
|
rs771628868
|
|
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)
|
rs515726135
|
|
NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln)
|
|
|
NM_024296.5(CCDC28B):c.462G>A (p.Glu154=)
|
rs6697820
|
|
NM_024649.5(BBS1):c.*13_*21dup
|
rs750165500
|
|
NM_024649.5(BBS1):c.*474G>A
|
rs146244814
|
|
NM_024649.5(BBS1):c.*514C>T
|
rs886048527
|
|
NM_024649.5(BBS1):c.*51C>G
|
rs757289650
|
|
NM_024649.5(BBS1):c.*776G>A
|
rs1856839016
|
|
NM_024649.5(BBS1):c.*855G>A
|
rs886048530
|
|
NM_024649.5(BBS1):c.*886C>T
|
rs754365737
|
|
NM_024649.5(BBS1):c.1006C>G (p.Leu336Val)
|
rs765494351
|
|
NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter)
|
rs1856358703
|
|
NM_024649.5(BBS1):c.1009del (p.Glu337fs)
|
|
|
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter)
|
rs869025205
|
|
NM_024649.5(BBS1):c.1021delinsGG (p.Arg341fs)
|
|
|
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly)
|
rs1555048530
|
|
NM_024649.5(BBS1):c.1071T>C (p.Ile357=)
|
rs1856362378
|
|
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)
|
rs1057516533
|
|
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro)
|
rs540217506
|
|
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn)
|
rs1565286202
|
|
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp)
|
rs752299442
|
|
NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter)
|
rs1021331909
|
|
NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly)
|
rs1160669210
|
|
NM_024649.5(BBS1):c.1180+5G>A
|
rs886048525
|
|
NM_024649.5(BBS1):c.1181-3T>G
|
rs1856511506
|
|
NM_024649.5(BBS1):c.1181_1191del
|
|
|
NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter)
|
rs1421044140
|
|
NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs)
|
|
|
NM_024649.5(BBS1):c.1214_1215insSVA
|
|
|
NM_024649.5(BBS1):c.124+1G>A
|
rs1057516449
|
|
NM_024649.5(BBS1):c.124+1G>C
|
rs1057516449
|
|
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)
|
rs1060503690
|
|
NM_024649.5(BBS1):c.1243del (p.Val415fs)
|
rs1590772920
|
|
NM_024649.5(BBS1):c.1253del (p.Pro418fs)
|
|
|
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr)
|
rs1346584719
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.130del (p.Ala44fs)
|
rs2134765690
|
|
NM_024649.5(BBS1):c.1339+163G>A
|
|
|
NM_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys)
|
rs745460551
|
|
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs)
|
rs1555049933
|
|
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter)
|
rs1565289799
|
|
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer)
|
rs1057516901
|
|
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys)
|
rs374706769
|
|
NM_024649.5(BBS1):c.1473G>A (p.Val491=)
|
rs1856699471
|
|
NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr)
|
rs1194392195
|
|
NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter)
|
|
|
NM_024649.5(BBS1):c.1564del (p.Leu522fs)
|
rs2134837160
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
NM_024649.5(BBS1):c.1585dup (p.Ser529fs)
|
rs1555050268
|
|
NM_024649.5(BBS1):c.158dup (p.Leu54fs)
|
rs1313590454
|
|
NM_024649.5(BBS1):c.159+2T>A
|
rs1057516507
|
|
NM_024649.5(BBS1):c.159+2del
|
rs1348187150
|
|
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu)
|
rs142648652
|
|
NM_024649.5(BBS1):c.1608+1G>A
|
rs1856758582
|
|
NM_024649.5(BBS1):c.1609-2A>T
|
rs1555050394
|
|
NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu)
|
rs778941006
|
|
NM_024649.5(BBS1):c.1631T>A (p.Leu544His)
|
rs1555050401
|
|
NM_024649.5(BBS1):c.1642del (p.Leu548fs)
|
rs1555050404
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal)
|
rs1555050422
|
|
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter)
|
rs1856790811
|
|
NM_024649.5(BBS1):c.1695G>A (p.Lys565=)
|
rs1555050427
|
|
NM_024649.5(BBS1):c.1702G>A (p.Val568Met)
|
rs754300140
|
|
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)
|
rs1434577015
|
|
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)
|
rs1856803176
|
|
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter)
|
rs1450045618
|
|
NM_024649.5(BBS1):c.1752G>A (p.Met584Ile)
|
rs769773058
|
|
NM_024649.5(BBS1):c.17dup (p.Ser7fs)
|
rs1166022838
|
|
NM_024649.5(BBS1):c.182del (p.Pro61fs)
|
rs1057517007
|
|
NM_024649.5(BBS1):c.198C>T (p.Pro66=)
|
rs1856007679
|
|
NM_024649.5(BBS1):c.1A>C (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.214A>T (p.Lys72Ter)
|
rs1856007963
|
|
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter)
|
rs1012901050
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024649.5(BBS1):c.227T>A (p.Val76Glu)
|
rs2134771309
|
|
NM_024649.5(BBS1):c.277C>T (p.Leu93Phe)
|
rs2134771383
|
|
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)
|
|
|
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.338A>G (p.Tyr113Cys)
|
rs753517084
|
|
NM_024649.5(BBS1):c.345dup (p.Lys116Ter)
|
rs1555046611
|
|
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter)
|
rs1856010874
|
|
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter)
|
rs2134771570
|
|
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter)
|
rs1856011738
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024649.5(BBS1):c.432+9_432+12del
|
rs1555046629
|
|
NM_024649.5(BBS1):c.433-2A>G
|
rs1555046748
|
|
NM_024649.5(BBS1):c.434dup (p.Asp145fs)
|
|
|
NM_024649.5(BBS1):c.46dup (p.Ser16fs)
|
|
|
NM_024649.5(BBS1):c.47+1G>T
|
rs1475257145
|
|
NM_024649.5(BBS1):c.47+2T>C
|
rs1182864166
|
|
NM_024649.5(BBS1):c.47+2T>G
|
|
|
NM_024649.5(BBS1):c.48-1G>A
|
rs751753112
|
|
NM_024649.5(BBS1):c.48-1G>T
|
rs751753112
|
|
NM_024649.5(BBS1):c.48-3C>G
|
rs869025204
|
|
NM_024649.5(BBS1):c.480-1G>C
|
rs1057516933
|
|
NM_024649.5(BBS1):c.480-28G>C
|
|
|
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys)
|
rs148576114
|
|
NM_024649.5(BBS1):c.519-2A>G
|
rs1057516502
|
|
NM_024649.5(BBS1):c.579dup (p.Ile194fs)
|
|
|
NM_024649.5(BBS1):c.57C>G (p.Ala19=)
|
rs755026677
|
|
NM_024649.5(BBS1):c.591+1G>A
|
|
|
NM_024649.5(BBS1):c.592-7_592-5del
|
rs774944051
|
|
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer)
|
rs2134780429
|
|
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn)
|
rs2134780459
|
|
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg)
|
rs1856141438
|
|
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)
|
rs778850233
|
|
NM_024649.5(BBS1):c.700G>T (p.Glu234Ter)
|
rs35520756
|
|
NM_024649.5(BBS1):c.70_73del (p.Leu24fs)
|
|
|
NM_024649.5(BBS1):c.71T>A (p.Leu24Ter)
|
rs1855932058
|
|
NM_024649.5(BBS1):c.723+1G>A
|
|
|
NM_024649.5(BBS1):c.723+2T>C
|
|
|
NM_024649.5(BBS1):c.723+2T>G
|
|
|
NM_024649.5(BBS1):c.734_735del (p.Pro245fs)
|
|
|
NM_024649.5(BBS1):c.752del (p.Leu251fs)
|
rs2134784600
|
|
NM_024649.5(BBS1):c.777del (p.Glu260fs)
|
rs1555047786
|
|
NM_024649.5(BBS1):c.77C>T (p.Ala26Val)
|
rs866558676
|
|
NM_024649.5(BBS1):c.786del (p.Ala264fs)
|
rs1057516330
|
|
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu)
|
rs372939761
|
|
NM_024649.5(BBS1):c.830+12del
|
rs1343720111
|
|
NM_024649.5(BBS1):c.830+1G>T
|
|
|
NM_024649.5(BBS1):c.830+350_1110+217del
|
|
|
NM_024649.5(BBS1):c.830+72A>G
|
rs2134785377
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
NM_024649.5(BBS1):c.831-3C>G
|
rs113994179
|
|
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)
|
rs1057516427
|
|
NM_024649.5(BBS1):c.855dup (p.Ile286fs)
|
|
|
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+1G>A
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+1G>C
|
|
|
NM_024649.5(BBS1):c.951+1G>T
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+2T>G
|
|
|
NM_024649.5(BBS1):c.951+58C>T
|
rs1856346961
|
|
NM_024649.5(BBS1):c.952-1G>C
|
rs1057516661
|
|
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg)
|
rs1555048487
|
|
NM_024649.5(BBS1):c.965G>A (p.Trp322Ter)
|
rs1856354695
|
|
NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)
|
|
|
NM_024649.5(BBS1):c.981del (p.Ala328fs)
|
rs1057516371
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter)
|
rs1592492255
|
|
NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)
|
|
|
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs)
|
rs2150737232
|
|
NM_152618.3(BBS12):c.1685del (p.Asn562fs)
|
|
|
NM_170784.3(MKKS):c.973A>C (p.Thr325Pro)
|
rs137853156
|
|
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)
|
rs1727380420
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|