NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)
|
rs4784677
|
0.99534
|
NM_033028.5(BBS4):c.906T>C (p.Phe302=)
|
rs12914333
|
0.95849
|
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_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_006642.5(SDCCAG8):c.1725G>A (p.Glu575=)
|
rs10927011
|
0.41204
|
NM_176824.3(BBS7):c.1890+16G>A
|
rs1507994
|
0.40768
|
NM_198428.3(BBS9):c.1275+13G>T
|
rs11981364
|
0.26909
|
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp)
|
rs2275155
|
0.25552
|
NM_024649.5(BBS1):c.724-8G>C
|
rs10896125
|
0.24158
|
NM_024649.5(BBS1):c.378G>A (p.Leu126=)
|
rs2298806
|
0.21158
|
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_170784.3(MKKS):c.117C>T (p.Pro39=)
|
rs16991547
|
0.18435
|
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_015910.7(WDPCP):c.1916-6C>T
|
rs2421862
|
0.14640
|
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys)
|
rs1547
|
0.14159
|
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val)
|
rs1545
|
0.14147
|
NM_170784.3(MKKS):c.534C>T (p.Ile178=)
|
rs17852625
|
0.14082
|
NM_170784.3(MKKS):c.985+16T>G
|
rs6133917
|
0.14080
|
NM_152618.3(BBS12):c.1398C>T (p.Gly466=)
|
rs2292493
|
0.13826
|
NM_012210.4(TRIM32):c.1254G>A (p.Val418=)
|
rs1661300
|
0.10569
|
NM_152618.3(BBS12):c.1200G>A (p.Val400=)
|
rs309371
|
0.09713
|
NM_152618.3(BBS12):c.51A>G (p.Gln17=)
|
rs17006077
|
0.06714
|
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)
|
rs35676114
|
0.05430
|
NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser)
|
rs17617459
|
0.04486
|
NM_152384.3(BBS5):c.39C>G (p.Val13=)
|
rs10188609
|
0.04379
|
NM_033028.5(BBS4):c.906= (p.Phe302=)
|
rs12914333
|
0.04151
|
NM_001278293.3(ARL6):c.186-18T>C
|
rs77906443
|
0.04049
|
NM_144596.4(TTC8):c.1432-12T>C
|
rs79747892
|
0.03653
|
NM_198428.3(BBS9):c.1017-6T>C
|
rs61756571
|
0.03520
|
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_152384.3(BBS5):c.108C>T (p.Ser36=)
|
rs16823066
|
0.02951
|
NM_198428.3(BBS9):c.1029A>G (p.Gly343=)
|
rs35195153
|
0.02890
|
NM_198428.3(BBS9):c.1284C>T (p.Thr428=)
|
rs6964382
|
0.02858
|
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn)
|
rs28507107
|
0.02805
|
NM_033028.5(BBS4):c.405+17C>T
|
rs80334351
|
0.02539
|
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_006642.5(SDCCAG8):c.912C>T (p.Thr304=)
|
rs976529
|
0.02103
|
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)
|
rs16957538
|
0.02076
|
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp)
|
rs309369
|
0.01932
|
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_001278293.3(ARL6):c.480-8C>T
|
rs77010939
|
0.01364
|
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala)
|
rs4498440
|
0.01355
|
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu)
|
rs34209904
|
0.01256
|
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr)
|
rs61734546
|
0.01201
|
NM_033028.5(BBS4):c.712-17C>G
|
rs150754122
|
0.01051
|
NM_198428.3(BBS9):c.2299-20A>C
|
rs17727583
|
0.01007
|
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)
|
rs59252892
|
0.00979
|
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)
|
rs61734468
|
0.00905
|
NM_152384.3(BBS5):c.285C>T (p.Leu95=)
|
rs6752540
|
0.00882
|
NM_152384.3(BBS5):c.501T>A (p.Val167=)
|
rs75690869
|
0.00879
|
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln)
|
rs34218557
|
0.00872
|
NM_198428.3(BBS9):c.555C>T (p.Ala185=)
|
rs35440033
|
0.00871
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
NM_033028.5(BBS4):c.180A>G (p.Gln60=)
|
rs114434361
|
0.00852
|
NM_144596.4(TTC8):c.625-5C>T
|
rs137853922
|
0.00807
|
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_198428.3(BBS9):c.1694-6T>C
|
rs28622379
|
0.00710
|
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_198428.3(BBS9):c.2116-20G>A
|
rs149813362
|
0.00658
|
NM_152384.3(BBS5):c.620G>A (p.Arg207His)
|
rs35487251
|
0.00625
|
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser)
|
rs34737974
|
0.00618
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
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_015910.7(WDPCP):c.1333G>C (p.Ala445Pro)
|
rs61734466
|
0.00572
|
NM_024685.4(BBS10):c.966T>C (p.Tyr322=)
|
rs139053702
|
0.00560
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
NM_198428.3(BBS9):c.1110C>T (p.Asn370=)
|
rs61753524
|
0.00539
|
NM_152618.3(BBS12):c.1103G>A (p.Arg368His)
|
rs78457123
|
0.00511
|
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr)
|
rs150920905
|
0.00508
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_024649.5(BBS1):c.1020C>G (p.Ser340=)
|
rs35209408
|
0.00470
|
NM_031885.5(BBS2):c.209= (p.Ser70=)
|
rs4784677
|
0.00466
|
NM_033028.5(BBS4):c.1106+20T>C
|
rs145968663
|
0.00461
|
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg)
|
rs34620165
|
0.00458
|
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)
|
rs77731085
|
0.00439
|
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)
|
rs35690634
|
0.00435
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)
|
rs141340867
|
0.00398
|
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_152384.3(BBS5):c.551A>G (p.Asn184Ser)
|
rs137853921
|
0.00380
|
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)
|
rs61764067
|
0.00375
|
NM_198428.3(BBS9):c.390T>C (p.Asn130=)
|
rs78283245
|
0.00370
|
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)
|
rs137853909
|
0.00359
|
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met)
|
rs35859404
|
0.00342
|
NM_144596.4(TTC8):c.1401G>A (p.Pro467=)
|
rs114064158
|
0.00319
|
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)
|
rs116483694
|
0.00287
|
NM_024649.5(BBS1):c.831-5C>T
|
rs56177555
|
0.00285
|
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)
|
rs150880478
|
0.00272
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_152618.3(BBS12):c.1287T>C (p.Ser429=)
|
rs17006094
|
0.00258
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_033028.5(BBS4):c.332+27dup
|
rs558055315
|
0.00243
|
NM_198428.3(BBS9):c.2632+9C>A
|
rs148654647
|
0.00242
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)
|
rs150553044
|
0.00194
|
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=)
|
rs149837444
|
0.00190
|
NM_152384.3(BBS5):c.750C>T (p.Ile250=)
|
rs76138485
|
0.00188
|
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
|
rs143191074
|
0.00187
|
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.499+20A>G
|
rs186575824
|
0.00159
|
NM_152618.3(BBS12):c.105A>T (p.Ser35=)
|
rs35159397
|
0.00156
|
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser)
|
rs151164191
|
0.00134
|
NM_024685.4(BBS10):c.1245T>C (p.His415=)
|
rs147241753
|
0.00130
|
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=)
|
rs145877279
|
0.00120
|
NM_031885.5(BBS2):c.865A>G (p.Ile289Val)
|
rs150384293
|
0.00113
|
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)
|
rs150395094
|
0.00096
|
NM_024685.4(BBS10):c.1545T>C (p.Asp515=)
|
rs77565309
|
0.00093
|
NM_012210.4(TRIM32):c.6T>G (p.Ala2=)
|
rs141352486
|
0.00086
|
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn)
|
rs117543061
|
0.00081
|
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)
|
rs146752751
|
0.00076
|
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)
|
rs148818431
|
0.00069
|
NM_152618.3(BBS12):c.1207G>A (p.Val403Met)
|
rs78000298
|
0.00069
|
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)
|
rs147202164
|
0.00063
|
NM_176824.3(BBS7):c.171G>A (p.Val57=)
|
rs144525608
|
0.00060
|
NM_144596.4(TTC8):c.330-15T>A
|
rs187484893
|
0.00059
|
NM_198428.3(BBS9):c.1432+7T>G
|
rs150963080
|
0.00058
|
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile)
|
rs199676595
|
0.00052
|
NM_006642.5(SDCCAG8):c.348C>T (p.His116=)
|
rs143226730
|
0.00051
|
NM_033028.5(BBS4):c.460-20T>C
|
rs200203402
|
0.00048
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)
|
rs144703991
|
0.00039
|
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=)
|
rs191821211
|
0.00038
|
NM_176824.3(BBS7):c.1230+18T>C
|
rs750801316
|
0.00038
|
NM_006642.5(SDCCAG8):c.798T>C (p.His266=)
|
rs74586093
|
0.00036
|
NM_031885.5(BBS2):c.2079G>A (p.Gln693=)
|
rs150797250
|
0.00034
|
NM_198428.3(BBS9):c.1245C>T (p.Val415=)
|
rs61764066
|
0.00034
|
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln)
|
rs145045986
|
0.00031
|
NM_024649.5(BBS1):c.1695+10G>A
|
rs200276861
|
0.00029
|
NM_144596.4(TTC8):c.669G>A (p.Lys223=)
|
rs141304350
|
0.00026
|
NM_152618.3(BBS12):c.1257C>T (p.Ser419=)
|
rs34652786
|
0.00025
|
NM_015910.7(WDPCP):c.480C>T (p.Ile160=)
|
rs768777510
|
0.00024
|
NM_031885.5(BBS2):c.1080+14C>T
|
rs375468475
|
0.00024
|
NM_033028.5(BBS4):c.459+14G>C
|
rs200810799
|
0.00024
|
NM_144596.4(TTC8):c.909+18T>C
|
rs111707320
|
0.00024
|
NM_033028.5(BBS4):c.1107-14T>G
|
rs185052338
|
0.00022
|
NM_001278293.3(ARL6):c.192A>G (p.Ser64=)
|
rs140114162
|
0.00020
|
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)
|
rs3747834
|
0.00017
|
NM_033028.5(BBS4):c.1440G>A (p.Thr480=)
|
rs148682268
|
0.00017
|
NM_033028.5(BBS4):c.1215C>G (p.Leu405=)
|
rs3759869
|
0.00015
|
NM_198428.3(BBS9):c.678A>G (p.Lys226=)
|
rs201231133
|
0.00009
|
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)
|
rs138961848
|
0.00008
|
NM_176824.3(BBS7):c.1311C>T (p.Asn437=)
|
rs199812109
|
0.00008
|
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr)
|
rs140895713
|
0.00006
|
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro)
|
rs201785599
|
0.00006
|
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=)
|
rs150813870
|
0.00005
|
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)
|
rs201872547
|
0.00005
|
NM_152384.3(BBS5):c.190T>C (p.Leu64=)
|
rs777369461
|
0.00005
|
NM_152384.3(BBS5):c.817-5T>G
|
rs780213701
|
0.00005
|
NM_198428.3(BBS9):c.270C>T (p.Thr90=)
|
rs747398844
|
0.00005
|
NM_012210.4(TRIM32):c.1609C>T (p.Leu537=)
|
rs139275673
|
0.00004
|
NM_031885.5(BBS2):c.744T>C (p.His248=)
|
rs186893286
|
0.00004
|
NM_144596.4(TTC8):c.145-7G>A
|
rs368220069
|
0.00004
|
NM_198428.3(BBS9):c.1276-17C>T
|
rs199758277
|
0.00004
|
NM_015910.7(WDPCP):c.76-15T>A
|
rs200557033
|
0.00003
|
NM_198428.3(BBS9):c.1236C>T (p.Asn412=)
|
rs139235142
|
0.00003
|
NM_198428.3(BBS9):c.1606C>T (p.Leu536=)
|
rs576401162
|
0.00003
|
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)
|
rs572052810
|
0.00002
|
NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln)
|
rs372685495
|
0.00002
|
NM_176824.3(BBS7):c.639C>T (p.Asp213=)
|
rs150407489
|
0.00002
|
NM_024649.5(BBS1):c.433-5C>T
|
rs542052064
|
0.00001
|
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)
|
rs771355732
|
0.00001
|
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)
|
rs185178790
|
0.00001
|
NM_001278293.3(ARL6):c.535+13del
|
|
|
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr)
|
rs115098969
|
|
NM_006642.5(SDCCAG8):c.1357-13dup
|
|
|
NM_006642.5(SDCCAG8):c.2113-5del
|
|
|
NM_006642.5(SDCCAG8):c.307-8dup
|
|
|
NM_015910.7(WDPCP):c.1749-12del
|
|
|
NM_015910.7(WDPCP):c.385-3del
|
rs559429215
|
|
NM_015910.7(WDPCP):c.76-15_76-5del
|
rs780314107
|
|
NM_015910.7(WDPCP):c.924A>G (p.Val308=)
|
rs201844706
|
|
NM_024649.5(BBS1):c.125-14C>T
|
|
|
NM_024649.5(BBS1):c.591+10_591+11dup
|
rs770545908
|
|
NM_024649.5(BBS1):c.591+11del
|
|
|
NM_024649.5(BBS1):c.951+11dup
|
|
|
NM_024685.4(BBS10):c.1074G>A (p.Ser358=)
|
rs551803123
|
|
NM_024685.4(BBS10):c.198-12dup
|
rs764036894
|
|
NM_024685.4(BBS10):c.198-7del
|
|
|
NM_031885.5(BBS2):c.1527+17del
|
|
|
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)
|
rs560910758
|
|
NM_031885.5(BBS2):c.346-12del
|
rs777667452
|
|
NM_031885.5(BBS2):c.472-13del
|
|
|
NM_031885.5(BBS2):c.534+11del
|
|
|
NM_031885.5(BBS2):c.534+11dup
|
|
|
NM_031885.5(BBS2):c.613-17dup
|
|
|
NM_031885.5(BBS2):c.613-5dup
|
|
|
NM_031885.5(BBS2):c.941-13dup
|
|
|
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup)
|
rs752690768
|
|
NM_033028.5(BBS4):c.1451-14del
|
|
|
NM_033028.5(BBS4):c.24+9C>T
|
|
|
NM_033028.5(BBS4):c.406-11del
|
|
|
NM_033028.5(BBS4):c.864+12del
|
|
|
NM_033028.5(BBS4):c.864+12dup
|
rs1476015172
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_152384.3(BBS5):c.258+14dup
|
|
|
NM_152384.3(BBS5):c.523-5del
|
|
|
NM_152384.3(BBS5):c.619-16_619-15del
|
rs762885469
|
|
NM_170784.3(MKKS):c.986-4dup
|
|
|
NM_176824.3(BBS7):c.1231-15del
|
|
|
NM_176824.3(BBS7):c.1231-15dup
|
rs747444432
|
|
NM_176824.3(BBS7):c.1372-13dup
|
|
|
NM_176824.3(BBS7):c.166-4del
|
|
|
NM_176824.3(BBS7):c.166-4dup
|
|
|
NM_176824.3(BBS7):c.1677-17del
|
|
|
NM_176824.3(BBS7):c.849+17del
|
|
|
NM_176824.3(BBS7):c.849+17dup
|
|
|
NM_198428.3(BBS9):c.1790-8del
|
|
|
NM_198428.3(BBS9):c.1790-8dup
|
|
|
NM_198428.3(BBS9):c.2633-5dup
|
rs761809109
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTNNNNNNNNNNAGACAACTGGTTAGCCAGGATGGTCTCGTTCGCGGGTACTCCAGATCCACCCGCCTCTGACTCCCAACGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCCAGAAATATTTTT
|
rs2128114877
|
|
NM_198428.3(BBS9):c.329-7del
|
rs753552530
|
|
NM_198428.3(BBS9):c.329-7dup
|
rs753552530
|
|
NM_198428.3(BBS9):c.442+13dup
|
|
|
NM_198428.3(BBS9):c.531C>A (p.Gly177=)
|
rs113518488
|
|
NM_198428.3(BBS9):c.702+15dup
|
rs756949696
|
|