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_176824.3(BBS7):c.1890+16G>A
|
rs1507994
|
0.40768
|
NM_198428.3(BBS9):c.1275+13G>T
|
rs11981364
|
0.26909
|
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_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_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_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_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_198428.3(BBS9):c.34A>G (p.Thr12Ala)
|
rs4498440
|
0.01355
|
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu)
|
rs34209904
|
0.01256
|
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_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_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
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.299A>G (p.Asn100Ser)
|
rs139392523
|
0.00230
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)
|
rs143960329
|
0.00220
|
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_015910.7(WDPCP):c.385C>G (p.Leu129Val)
|
rs191796211
|
0.00202
|
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)
|
rs150553044
|
0.00194
|
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_198428.3(BBS9):c.2336T>A (p.Leu779Gln)
|
rs142434516
|
0.00185
|
NM_012210.4(TRIM32):c.558G>C (p.Gln186His)
|
rs117599771
|
0.00183
|
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val)
|
rs139719799
|
0.00167
|
NM_031885.5(BBS2):c.1081-18G>T
|
rs142558653
|
0.00166
|
NM_015910.7(WDPCP):c.499+20A>G
|
rs186575824
|
0.00159
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)
|
rs202196322
|
0.00156
|
NM_152618.3(BBS12):c.105A>T (p.Ser35=)
|
rs35159397
|
0.00156
|
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly)
|
rs111442398
|
0.00154
|
NM_015910.7(WDPCP):c.985G>A (p.Val329Met)
|
rs199959383
|
0.00147
|
NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe)
|
rs189817127
|
0.00141
|
NM_144596.4(TTC8):c.1077C>T (p.Asn359=)
|
rs150896551
|
0.00141
|
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_033028.5(BBS4):c.208A>G (p.Ile70Val)
|
rs142692981
|
0.00118
|
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)
|
rs138744839
|
0.00115
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_031885.5(BBS2):c.865A>G (p.Ile289Val)
|
rs150384293
|
0.00113
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
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_198428.3(BBS9):c.2646C>A (p.Leu882=)
|
rs61753527
|
0.00088
|
NM_012210.4(TRIM32):c.6T>G (p.Ala2=)
|
rs141352486
|
0.00086
|
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)
|
rs141046144
|
0.00086
|
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)
|
rs143113298
|
0.00086
|
NM_024649.5(BBS1):c.724-16C>T
|
rs141332689
|
0.00081
|
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn)
|
rs117543061
|
0.00081
|
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn)
|
rs149362446
|
0.00081
|
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_144596.4(TTC8):c.1231G>A (p.Gly411Arg)
|
rs139773124
|
0.00071
|
NM_198428.3(BBS9):c.2214C>T (p.Ile738=)
|
rs148536971
|
0.00071
|
NM_152618.3(BBS12):c.1207G>A (p.Val403Met)
|
rs78000298
|
0.00069
|
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)
|
rs115328064
|
0.00068
|
NM_031885.5(BBS2):c.1659+18G>A
|
rs371421381
|
0.00067
|
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)
|
rs146052054
|
0.00066
|
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)
|
rs61764068
|
0.00066
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)
|
rs147202164
|
0.00063
|
NM_033028.5(BBS4):c.514A>G (p.Ile172Val)
|
rs145265395
|
0.00063
|
NM_031885.5(BBS2):c.126T>G (p.Ile42Met)
|
rs139945733
|
0.00061
|
NM_176824.3(BBS7):c.171G>A (p.Val57=)
|
rs144525608
|
0.00060
|
NM_144596.4(TTC8):c.330-15T>A
|
rs187484893
|
0.00059
|
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_198428.3(BBS9):c.2363C>T (p.Ser788Phe)
|
rs61753526
|
0.00053
|
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile)
|
rs199676595
|
0.00052
|
NM_012210.4(TRIM32):c.276C>T (p.Ser92=)
|
rs140589523
|
0.00051
|
NM_031885.5(BBS2):c.472-10T>C
|
rs138714256
|
0.00049
|
NM_033028.5(BBS4):c.460-20T>C
|
rs200203402
|
0.00048
|
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)
|
rs139278612
|
0.00048
|
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)
|
rs147281546
|
0.00047
|
NM_152618.3(BBS12):c.978T>A (p.Thr326=)
|
rs115635198
|
0.00047
|
NM_033028.5(BBS4):c.157-19A>G
|
rs373166573
|
0.00046
|
NM_031885.5(BBS2):c.525A>G (p.Gly175=)
|
rs34191306
|
0.00045
|
NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg)
|
rs200170138
|
0.00042
|
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)
|
rs150587582
|
0.00041
|
NM_176824.3(BBS7):c.1890+9_1890+10del
|
rs772355304
|
0.00041
|
NM_015910.7(WDPCP):c.826-8C>A
|
rs201860952
|
0.00040
|
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu)
|
rs149596527
|
0.00040
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile)
|
rs201877419
|
0.00039
|
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)
|
rs144703991
|
0.00039
|
NM_024685.4(BBS10):c.957T>C (p.Val319=)
|
rs139645096
|
0.00039
|
NM_176824.3(BBS7):c.223A>G (p.Ile75Val)
|
rs138872188
|
0.00039
|
NM_176824.3(BBS7):c.1230+18T>C
|
rs750801316
|
0.00038
|
NM_198428.3(BBS9):c.2322C>T (p.Ala774=)
|
rs145435891
|
0.00037
|
NM_033028.5(BBS4):c.1140G>A (p.Val380=)
|
rs141511580
|
0.00036
|
NM_198428.3(BBS9):c.887-7C>T
|
rs376333670
|
0.00036
|
NM_198428.3(BBS9):c.666T>A (p.Thr222=)
|
rs145385875
|
0.00035
|
NM_024685.4(BBS10):c.752C>T (p.Ala251Val)
|
rs149760791
|
0.00034
|
NM_031885.5(BBS2):c.1797+12C>T
|
rs370960689
|
0.00034
|
NM_031885.5(BBS2):c.2079G>A (p.Gln693=)
|
rs150797250
|
0.00034
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
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_198428.3(BBS9):c.1245C>T (p.Val415=)
|
rs61764066
|
0.00034
|
NM_198428.3(BBS9):c.1918A>G (p.Ile640Val)
|
rs144112103
|
0.00034
|
NM_031885.5(BBS2):c.995G>A (p.Ser332Asn)
|
rs199655331
|
0.00033
|
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_031885.5(BBS2):c.1238G>A (p.Arg413Gln)
|
rs141683908
|
0.00031
|
NM_198428.3(BBS9):c.2294A>G (p.Glu765Gly)
|
rs140882212
|
0.00031
|
NM_198428.3(BBS9):c.2460C>T (p.Ser820=)
|
rs142563811
|
0.00031
|
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr)
|
rs148808295
|
0.00030
|
NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val)
|
rs141845729
|
0.00029
|
NM_024649.5(BBS1):c.1695+10G>A
|
rs200276861
|
0.00029
|
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)
|
rs150706579
|
0.00029
|
NM_176824.3(BBS7):c.1158A>G (p.Thr386=)
|
rs146617227
|
0.00029
|
NM_015910.7(WDPCP):c.208+1G>A
|
rs187135801
|
0.00028
|
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_015910.7(WDPCP):c.1788C>T (p.Asp596=)
|
rs185980830
|
0.00026
|
NM_031885.5(BBS2):c.1623C>T (p.Gly541=)
|
rs143951580
|
0.00026
|
NM_144596.4(TTC8):c.669G>A (p.Lys223=)
|
rs141304350
|
0.00026
|
NM_198428.3(BBS9):c.621C>T (p.Tyr207=)
|
rs140169161
|
0.00026
|
NM_152618.3(BBS12):c.1257C>T (p.Ser419=)
|
rs34652786
|
0.00025
|
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)
|
rs150743868
|
0.00025
|
NM_015910.7(WDPCP):c.480C>T (p.Ile160=)
|
rs768777510
|
0.00024
|
NM_015910.7(WDPCP):c.826-13T>C
|
rs368439537
|
0.00024
|
NM_031885.5(BBS2):c.1080+14C>T
|
rs375468475
|
0.00024
|
NM_031885.5(BBS2):c.1104C>T (p.Asn368=)
|
rs141731677
|
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_152384.3(BBS5):c.32G>A (p.Arg11Gln)
|
rs150931960
|
0.00024
|
NM_198428.3(BBS9):c.2211G>A (p.Leu737=)
|
rs144672900
|
0.00024
|
NM_024649.5(BBS1):c.1194C>A (p.Ile398=)
|
rs200577824
|
0.00023
|
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)
|
rs146412602
|
0.00023
|
NM_033028.5(BBS4):c.1107-14T>G
|
rs185052338
|
0.00022
|
NM_033028.5(BBS4):c.864G>A (p.Ala288=)
|
rs141345544
|
0.00022
|
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)
|
rs145392789
|
0.00022
|
NM_198428.3(BBS9):c.113-13A>T
|
rs766360617
|
0.00022
|
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala)
|
rs143963391
|
0.00022
|
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)
|
rs201662623
|
0.00021
|
NM_015910.7(WDPCP):c.75+13C>T
|
rs182759221
|
0.00021
|
NM_024649.5(BBS1):c.432+5A>G
|
rs373923317
|
0.00021
|
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr)
|
rs374742528
|
0.00021
|
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala)
|
rs376411291
|
0.00021
|
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu)
|
rs769669385
|
0.00021
|
NM_198428.3(BBS9):c.328+18C>T
|
rs201767914
|
0.00021
|
NM_198428.3(BBS9):c.771A>G (p.Ala257=)
|
rs145007686
|
0.00021
|
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile)
|
rs776917693
|
0.00020
|
NM_033028.5(BBS4):c.1107-11G>C
|
rs373344695
|
0.00020
|
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe)
|
rs760909426
|
0.00020
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe)
|
rs200373010
|
0.00020
|
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_015910.7(WDPCP):c.13T>C (p.Phe5Leu)
|
rs768802269
|
0.00019
|
NM_024649.5(BBS1):c.360C>T (p.Pro120=)
|
rs373756451
|
0.00019
|
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr)
|
rs145094101
|
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_024685.4(BBS10):c.2003A>G (p.Asn668Ser)
|
rs142140276
|
0.00018
|
NM_031885.5(BBS2):c.471+17A>G
|
rs200587401
|
0.00018
|
NM_152384.3(BBS5):c.197G>A (p.Arg66Lys)
|
rs200250398
|
0.00018
|
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_152384.3(BBS5):c.468A>G (p.Pro156=)
|
rs200636409
|
0.00017
|
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_033028.5(BBS4):c.1036+6A>G
|
rs374383864
|
0.00016
|
NM_033028.5(BBS4):c.1136C>T (p.Ala379Val)
|
rs147269475
|
0.00016
|
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val)
|
rs199649536
|
0.00016
|
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)
|
rs372102223
|
0.00016
|
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser)
|
rs202102193
|
0.00016
|
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe)
|
rs140821420
|
0.00016
|
NM_024685.4(BBS10):c.1923C>T (p.Pro641=)
|
rs201449351
|
0.00015
|
NM_033028.5(BBS4):c.1215C>G (p.Leu405=)
|
rs3759869
|
0.00015
|
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu)
|
rs141011629
|
0.00014
|
NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr)
|
rs200378703
|
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_024685.4(BBS10):c.372T>A (p.Ser124=)
|
rs143366878
|
0.00014
|
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs)
|
rs398124432
|
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_015910.7(WDPCP):c.979C>T (p.Gln327Ter)
|
rs182144885
|
0.00013
|
NM_024649.5(BBS1):c.1474-8C>T
|
rs398124402
|
0.00013
|
NM_024685.4(BBS10):c.102G>T (p.Arg34=)
|
rs376601112
|
0.00013
|
NM_033028.5(BBS4):c.587+12T>C
|
rs371519164
|
0.00013
|
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp)
|
rs727503820
|
0.00013
|
NM_176824.3(BBS7):c.123T>C (p.Asp41=)
|
rs148011561
|
0.00013
|
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly)
|
rs149668719
|
0.00013
|
NM_198428.3(BBS9):c.767C>T (p.Ser256Leu)
|
rs149790873
|
0.00013
|
NM_012210.4(TRIM32):c.313C>T (p.Arg105Trp)
|
rs201130164
|
0.00012
|
NM_012210.4(TRIM32):c.863C>A (p.Pro288His)
|
rs367574371
|
0.00012
|
NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile)
|
rs367727948
|
0.00012
|
NM_015910.7(WDPCP):c.385-12A>G
|
rs528402153
|
0.00012
|
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.330T>C (p.Pro110=)
|
rs760469814
|
0.00012
|
NM_024685.4(BBS10):c.27G>T (p.Gly9=)
|
rs370213920
|
0.00012
|
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)
|
rs138314289
|
0.00012
|
NM_033028.5(BBS4):c.24+6C>T
|
rs1427489194
|
0.00012
|
NM_033028.5(BBS4):c.372T>C (p.Tyr124=)
|
rs141903251
|
0.00012
|
NM_033028.5(BBS4):c.513T>C (p.Tyr171=)
|
rs367882912
|
0.00012
|
NM_144596.4(TTC8):c.1063A>T (p.Met355Leu)
|
rs140163629
|
0.00012
|
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)
|
rs758217005
|
0.00012
|
NM_012210.4(TRIM32):c.330A>G (p.Gln110=)
|
rs770015462
|
0.00011
|
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser)
|
rs200997003
|
0.00011
|
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)
|
rs200322968
|
0.00011
|
NM_015910.7(WDPCP):c.728C>T (p.Pro243Leu)
|
rs368933340
|
0.00011
|
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_024685.4(BBS10):c.1595G>A (p.Arg532Lys)
|
rs142297424
|
0.00011
|
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp)
|
rs560253338
|
0.00011
|
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs)
|
rs748758201
|
0.00011
|
NM_152384.3(BBS5):c.209-19C>A
|
rs564695479
|
0.00011
|
NM_152618.3(BBS12):c.344T>C (p.Val115Ala)
|
rs144179606
|
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.718+9T>C
|
rs374523374
|
0.00011
|
NM_176824.3(BBS7):c.917T>C (p.Val306Ala)
|
rs373378747
|
0.00011
|
NM_198428.3(BBS9):c.1112T>C (p.Val371Ala)
|
rs138436479
|
0.00011
|
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile)
|
rs139303948
|
0.00011
|
NM_198428.3(BBS9):c.1790-16A>G
|
rs545383863
|
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_015910.7(WDPCP):c.2179G>A (p.Gly727Ser)
|
rs369786224
|
0.00010
|
NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys)
|
rs374934704
|
0.00010
|
NM_024649.5(BBS1):c.479+20T>C
|
rs756451521
|
0.00010
|
NM_024649.5(BBS1):c.756G>C (p.Glu252Asp)
|
rs149920346
|
0.00010
|
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
NM_031885.5(BBS2):c.642C>T (p.Gly214=)
|
rs141563594
|
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_144596.4(TTC8):c.484G>C (p.Gly162Arg)
|
rs753150258
|
0.00010
|
NM_152384.3(BBS5):c.861T>C (p.Asp287=)
|
rs1321191223
|
0.00010
|
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser)
|
rs199596849
|
0.00010
|
NM_176824.3(BBS7):c.1511+19C>A
|
rs201524145
|
0.00010
|
NM_176824.3(BBS7):c.968A>G (p.His323Arg)
|
rs119466001
|
0.00010
|
NM_198428.3(BBS9):c.195C>T (p.Ala65=)
|
rs373063776
|
0.00010
|
NM_198428.3(BBS9):c.1963-13T>C
|
rs775660869
|
0.00010
|
NM_198428.3(BBS9):c.436G>A (p.Val146Ile)
|
rs372412756
|
0.00010
|
NM_012210.4(TRIM32):c.1040A>T (p.Glu347Val)
|
rs749760133
|
0.00009
|
NM_012210.4(TRIM32):c.366C>G (p.Pro122=)
|
rs137947083
|
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_015910.7(WDPCP):c.1055T>A (p.Leu352Gln)
|
rs373387599
|
0.00009
|
NM_015910.7(WDPCP):c.2159-13T>C
|
rs202221613
|
0.00009
|
NM_015910.7(WDPCP):c.738C>T (p.Asn246=)
|
rs543308588
|
0.00009
|
NM_015910.7(WDPCP):c.990A>G (p.Ser330=)
|
rs371090606
|
0.00009
|
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp)
|
rs767395683
|
0.00009
|
NM_024649.5(BBS1):c.1059A>G (p.Gly353=)
|
rs199692416
|
0.00009
|
NM_024649.5(BBS1):c.1110+15C>T
|
rs371084544
|
0.00009
|
NM_024649.5(BBS1):c.1404G>A (p.Leu468=)
|
rs140013934
|
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_024685.4(BBS10):c.1333C>A (p.Leu445Ile)
|
rs199878555
|
0.00009
|
NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser)
|
rs767717128
|
0.00009
|
NM_031885.5(BBS2):c.612+18G>A
|
rs200364314
|
0.00009
|
NM_031885.5(BBS2):c.870C>T (p.Ala290=)
|
rs750516217
|
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_144596.4(TTC8):c.1432-16C>T
|
rs373971173
|
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_152618.3(BBS12):c.542C>G (p.Ser181Cys)
|
rs765425168
|
0.00009
|
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr)
|
rs371153231
|
0.00009
|
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)
|
rs141224967
|
0.00009
|
NM_176824.3(BBS7):c.191C>T (p.Pro64Leu)
|
rs747055521
|
0.00009
|
NM_176824.3(BBS7):c.839G>A (p.Arg280Gln)
|
rs749970544
|
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_012210.4(TRIM32):c.1012G>A (p.Ala338Thr)
|
rs141806013
|
0.00008
|
NM_012210.4(TRIM32):c.27G>C (p.Leu9=)
|
rs201891227
|
0.00008
|
NM_015910.7(WDPCP):c.1888G>A (p.Asp630Asn)
|
rs760742250
|
0.00008
|
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser)
|
rs765923597
|
0.00008
|
NM_024649.5(BBS1):c.234C>T (p.Thr78=)
|
rs748732460
|
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_024685.4(BBS10):c.1265G>A (p.Arg422Gln)
|
rs138961848
|
0.00008
|
NM_024685.4(BBS10):c.1629C>T (p.Asn543=)
|
rs145124702
|
0.00008
|
NM_031885.5(BBS2):c.117+14C>T
|
rs372785118
|
0.00008
|
NM_031885.5(BBS2):c.1215C>T (p.Ser405=)
|
rs768053787
|
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_031885.5(BBS2):c.1786G>A (p.Val596Met)
|
rs375828912
|
0.00008
|
NM_031885.5(BBS2):c.470C>T (p.Thr157Met)
|
rs376483931
|
0.00008
|
NM_144596.4(TTC8):c.1347+18G>A
|
rs368504643
|
0.00008
|
NM_144596.4(TTC8):c.267C>A (p.Arg89=)
|
rs200113889
|
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_152384.3(BBS5):c.816+12A>G
|
rs764194396
|
0.00008
|
NM_152618.3(BBS12):c.1185G>A (p.Leu395=)
|
rs377611257
|
0.00008
|
NM_176824.3(BBS7):c.1311C>T (p.Asn437=)
|
rs199812109
|
0.00008
|
NM_176824.3(BBS7):c.2108A>G (p.Tyr703Cys)
|
rs375825705
|
0.00008
|
NM_176824.3(BBS7):c.864C>T (p.Ser288=)
|
rs142376157
|
0.00008
|
NM_198428.3(BBS9):c.1538-9G>T
|
rs770317221
|
0.00008
|
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile)
|
rs143016114
|
0.00008
|
NM_198428.3(BBS9):c.2313G>A (p.Thr771=)
|
rs374269883
|
0.00008
|
NM_012210.4(TRIM32):c.238C>T (p.Leu80=)
|
rs760820148
|
0.00007
|
NM_015910.7(WDPCP):c.2178C>T (p.Asp726=)
|
rs367690400
|
0.00007
|
NM_015910.7(WDPCP):c.499+11C>G
|
rs368323869
|
0.00007
|
NM_015910.7(WDPCP):c.708T>C (p.Asp236=)
|
rs190678638
|
0.00007
|
NM_015910.7(WDPCP):c.842G>A (p.Arg281His)
|
rs3738877
|
0.00007
|
NM_024649.5(BBS1):c.1243G>A (p.Val415Met)
|
rs150444177
|
0.00007
|
NM_024685.4(BBS10):c.375G>A (p.Arg125=)
|
rs376030299
|
0.00007
|
NM_031885.5(BBS2):c.1953T>C (p.Asn651=)
|
rs200621431
|
0.00007
|
NM_033028.5(BBS4):c.405+7A>G
|
rs778651927
|
0.00007
|
NM_144596.4(TTC8):c.308G>T (p.Gly103Val)
|
rs140710339
|
0.00007
|
NM_152384.3(BBS5):c.143-11T>C
|
rs773551745
|
0.00007
|
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)
|
rs369075832
|
0.00007
|
NM_152618.3(BBS12):c.1506C>T (p.Ala502=)
|
rs144855583
|
0.00007
|
NM_152618.3(BBS12):c.1980G>A (p.Pro660=)
|
rs778953866
|
0.00007
|
NM_198428.3(BBS9):c.2033G>A (p.Arg678His)
|
rs200654248
|
0.00007
|
NM_198428.3(BBS9):c.2241C>T (p.Asp747=)
|
rs144089673
|
0.00007
|
NM_198428.3(BBS9):c.921T>G (p.Asn307Lys)
|
rs769663141
|
0.00007
|
NM_012210.4(TRIM32):c.1223G>A (p.Arg408His)
|
rs183136193
|
0.00006
|
NM_012210.4(TRIM32):c.1416A>G (p.Pro472=)
|
rs374136376
|
0.00006
|
NM_012210.4(TRIM32):c.1662T>C (p.Ser554=)
|
rs372044621
|
0.00006
|
NM_012210.4(TRIM32):c.1688G>A (p.Arg563His)
|
rs138056275
|
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_012210.4(TRIM32):c.987G>A (p.Pro329=)
|
rs760513760
|
0.00006
|
NM_015910.7(WDPCP):c.1102C>T (p.Arg368Cys)
|
rs769112221
|
0.00006
|
NM_015910.7(WDPCP):c.209-1G>A
|
rs767481770
|
0.00006
|
NM_015910.7(WDPCP):c.254-16A>C
|
rs373967536
|
0.00006
|
NM_015910.7(WDPCP):c.739G>A (p.Asp247Asn)
|
rs376249713
|
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.592-19C>T
|
rs757918171
|
0.00006
|
NM_024649.5(BBS1):c.669C>T (p.Thr223=)
|
rs375121390
|
0.00006
|
NM_024649.5(BBS1):c.738C>T (p.Ser246=)
|
rs775266312
|
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.858C>T (p.Ile286=)
|
rs746775716
|
0.00006
|
NM_024649.5(BBS1):c.951+7C>A
|
rs780784789
|
0.00006
|
NM_024685.4(BBS10):c.1188T>C (p.Ser396=)
|
rs143903199
|
0.00006
|
NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu)
|
rs56867176
|
0.00006
|
NM_024685.4(BBS10):c.429T>C (p.Gly143=)
|
rs146587757
|
0.00006
|
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)
|
rs140585012
|
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.2128C>T (p.Leu710=)
|
rs762391617
|
0.00006
|
NM_031885.5(BBS2):c.534+17A>T
|
rs372085811
|
0.00006
|
NM_031885.5(BBS2):c.722A>C (p.Lys241Thr)
|
rs199918247
|
0.00006
|
NM_033028.5(BBS4):c.1083C>T (p.Tyr361=)
|
rs749282837
|
0.00006
|
NM_033028.5(BBS4):c.1107-7G>A
|
rs766664389
|
0.00006
|
NM_033028.5(BBS4):c.1114C>T (p.Pro372Ser)
|
rs375558008
|
0.00006
|
NM_033028.5(BBS4):c.1440dup (p.Leu481fs)
|
rs780269741
|
0.00006
|
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)
|
rs769886837
|
0.00006
|
NM_033028.5(BBS4):c.639A>G (p.Leu213=)
|
rs149663241
|
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_152384.3(BBS5):c.542T>C (p.Phe181Ser)
|
rs758508869
|
0.00006
|
NM_152618.3(BBS12):c.1102C>T (p.Arg368Cys)
|
rs372534521
|
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.2014G>A (p.Ala672Thr)
|
rs140895713
|
0.00006
|
NM_152618.3(BBS12):c.882T>C (p.Tyr294=)
|
rs766149148
|
0.00006
|
NM_176824.3(BBS7):c.1142T>C (p.Ile381Thr)
|
rs374288473
|
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.1890+19G>A
|
rs779382577
|
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_198428.3(BBS9):c.138G>A (p.Met46Ile)
|
rs145241295
|
0.00006
|
NM_198428.3(BBS9):c.1560G>A (p.Pro520=)
|
rs779586578
|
0.00006
|
NM_198428.3(BBS9):c.174A>G (p.Lys58=)
|
rs148812031
|
0.00006
|
NM_198428.3(BBS9):c.2115+19A>G
|
rs184420556
|
0.00006
|
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met)
|
rs137993290
|
0.00006
|
NM_198428.3(BBS9):c.2521+16A>G
|
rs781066901
|
0.00006
|
NM_198428.3(BBS9):c.833G>A (p.Arg278Gln)
|
rs754343745
|
0.00006
|
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=)
|
rs150813870
|
0.00005
|
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=)
|
rs141965401
|
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_012210.4(TRIM32):c.693A>C (p.Ala231=)
|
rs368455215
|
0.00005
|
NM_015910.7(WDPCP):c.1050C>T (p.Asp350=)
|
rs1188535327
|
0.00005
|
NM_015910.7(WDPCP):c.1103G>A (p.Arg368His)
|
rs749677469
|
0.00005
|
NM_015910.7(WDPCP):c.1793G>A (p.Gly598Asp)
|
rs771029060
|
0.00005
|
NM_015910.7(WDPCP):c.1915+11A>G
|
rs375424071
|
0.00005
|
NM_015910.7(WDPCP):c.2078+19A>C
|
rs371652879
|
0.00005
|
NM_015910.7(WDPCP):c.208+11T>C
|
rs201607698
|
0.00005
|
NM_015910.7(WDPCP):c.2161G>A (p.Gly721Arg)
|
rs563554007
|
0.00005
|
NM_015910.7(WDPCP):c.221G>A (p.Gly74Asp)
|
rs368745542
|
0.00005
|
NM_015910.7(WDPCP):c.254-16_254-15del
|
rs746129466
|
0.00005
|
NM_015910.7(WDPCP):c.825+19T>G
|
rs780109239
|
0.00005
|
NM_024649.5(BBS1):c.1035C>T (p.Ala345=)
|
rs779935398
|
0.00005
|
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.551C>T (p.Ala184Val)
|
rs372673129
|
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_024685.4(BBS10):c.1617A>G (p.Pro539=)
|
rs150467742
|
0.00005
|
NM_024685.4(BBS10):c.42G>A (p.Ala14=)
|
rs373458861
|
0.00005
|
NM_031885.5(BBS2):c.1152C>T (p.His384=)
|
rs774493134
|
0.00005
|
NM_031885.5(BBS2):c.1798-11A>G
|
rs374344685
|
0.00005
|
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu)
|
rs967941621
|
0.00005
|
NM_031885.5(BBS2):c.837C>T (p.Val279=)
|
rs748579225
|
0.00005
|
NM_031885.5(BBS2):c.970A>T (p.Met324Leu)
|
rs778551017
|
0.00005
|
NM_033028.5(BBS4):c.1158C>T (p.Gly386=)
|
rs1057402744
|
0.00005
|
NM_033028.5(BBS4):c.1170C>T (p.Asn390=)
|
rs376378002
|
0.00005
|
NM_033028.5(BBS4):c.587+7G>C
|
rs755929085
|
0.00005
|
NM_033028.5(BBS4):c.643-20_643-19del
|
rs776030864
|
0.00005
|
NM_033028.5(BBS4):c.663A>G (p.Ala221=)
|
rs574868161
|
0.00005
|
NM_033028.5(BBS4):c.76+18dup
|
rs745516764
|
0.00005
|
NM_033028.5(BBS4):c.864+20C>G
|
rs753099644
|
0.00005
|
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser)
|
rs771231605
|
0.00005
|
NM_144596.4(TTC8):c.171G>A (p.Ala57=)
|
rs776886643
|
0.00005
|
NM_144596.4(TTC8):c.357T>C (p.Ile119=)
|
rs567203939
|
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_152384.3(BBS5):c.829G>A (p.Glu277Lys)
|
rs754858756
|
0.00005
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
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_152618.3(BBS12):c.1858C>G (p.Gln620Glu)
|
rs776100718
|
0.00005
|
NM_176824.3(BBS7):c.1036C>T (p.Arg346Trp)
|
rs533535422
|
0.00005
|
NM_176824.3(BBS7):c.1511+9A>G
|
rs192602290
|
0.00005
|
NM_176824.3(BBS7):c.654T>C (p.Leu218=)
|
rs377333596
|
0.00005
|
NM_198428.3(BBS9):c.1949A>G (p.Asp650Gly)
|
rs201876934
|
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_198428.3(BBS9):c.663G>T (p.Glu221Asp)
|
rs767766656
|
0.00005
|
NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=)
|
rs776448126
|
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.1361T>C (p.Val454Ala)
|
rs781475334
|
0.00004
|
NM_012210.4(TRIM32):c.1384G>A (p.Val462Met)
|
rs772922696
|
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.201T>C (p.Ile67=)
|
rs780799984
|
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.339G>C (p.Arg113=)
|
rs150477945
|
0.00004
|
NM_012210.4(TRIM32):c.496C>T (p.Arg166Trp)
|
rs752016708
|
0.00004
|
NM_012210.4(TRIM32):c.501G>A (p.Lys167=)
|
rs200085883
|
0.00004
|
NM_012210.4(TRIM32):c.986C>T (p.Pro329Leu)
|
rs377510422
|
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.159G>A (p.Ala53=)
|
rs192196713
|
0.00004
|
NM_015910.7(WDPCP):c.1624+6A>G
|
rs370961530
|
0.00004
|
NM_015910.7(WDPCP):c.209C>T (p.Ala70Val)
|
rs141761524
|
0.00004
|
NM_015910.7(WDPCP):c.2160C>T (p.Asp720=)
|
rs372727422
|
0.00004
|
NM_015910.7(WDPCP):c.276C>T (p.Leu92=)
|
rs759303585
|
0.00004
|
NM_015910.7(WDPCP):c.60C>A (p.Ser20=)
|
rs757553495
|
0.00004
|
NM_015910.7(WDPCP):c.915C>T (p.Ser305=)
|
rs370372057
|
0.00004
|
NM_024649.5(BBS1):c.1246G>T (p.Gly416Cys)
|
rs202201758
|
0.00004
|
NM_024649.5(BBS1):c.1474-14C>T
|
rs369972079
|
0.00004
|
NM_024649.5(BBS1):c.159+14C>T
|
rs758468091
|
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.48-11C>T
|
rs760009418
|
0.00004
|
NM_024649.5(BBS1):c.48-9C>A
|
rs765571574
|
0.00004
|
NM_024649.5(BBS1):c.480-14C>T
|
rs1374689742
|
0.00004
|
NM_024649.5(BBS1):c.485C>T (p.Thr162Met)
|
rs148576114
|
0.00004
|
NM_024649.5(BBS1):c.745G>A (p.Val249Ile)
|
rs139145556
|
0.00004
|
NM_024649.5(BBS1):c.750C>T (p.Phe250=)
|
rs750108791
|
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.1412A>T (p.Asp471Val)
|
rs200718870
|
0.00004
|
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg)
|
rs1021050605
|
0.00004
|
NM_024685.4(BBS10):c.1548A>T (p.Thr516=)
|
rs771662934
|
0.00004
|
NM_024685.4(BBS10):c.163C>T (p.Leu55=)
|
rs887761680
|
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_024685.4(BBS10):c.936T>C (p.Ser312=)
|
rs142630760
|
0.00004
|
NM_031885.5(BBS2):c.111G>A (p.Thr37=)
|
rs191867233
|
0.00004
|
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)
|
rs766873519
|
0.00004
|
NM_031885.5(BBS2):c.1527+13C>T
|
rs756219595
|
0.00004
|
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val)
|
rs376380339
|
0.00004
|
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys)
|
rs746505864
|
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.531A>G (p.Lys177=)
|
rs558360994
|
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.744T>C (p.His248=)
|
rs186893286
|
0.00004
|
NM_031885.5(BBS2):c.962C>T (p.Thr321Met)
|
rs758548498
|
0.00004
|
NM_033028.5(BBS4):c.1009A>T (p.Met337Leu)
|
rs1021016026
|
0.00004
|
NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg)
|
rs149577332
|
0.00004
|
NM_033028.5(BBS4):c.1157G>A (p.Gly386Asp)
|
rs143607861
|
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.325A>C (p.Arg109=)
|
rs199809442
|
0.00004
|
NM_033028.5(BBS4):c.405+6T>C
|
rs926942882
|
0.00004
|
NM_033028.5(BBS4):c.480T>C (p.Asn160=)
|
rs894151156
|
0.00004
|
NM_033028.5(BBS4):c.501C>T (p.His167=)
|
rs745789574
|
0.00004
|
NM_033028.5(BBS4):c.645C>T (p.Leu215=)
|
rs373731535
|
0.00004
|
NM_033028.5(BBS4):c.6T>A (p.Ala2=)
|
rs954863260
|
0.00004
|
NM_033028.5(BBS4):c.712-14T>A
|
rs375598833
|
0.00004
|
NM_033028.5(BBS4):c.747C>T (p.His249=)
|
rs776079791
|
0.00004
|
NM_033028.5(BBS4):c.864+10C>T
|
rs201979024
|
0.00004
|
NM_033028.5(BBS4):c.986C>T (p.Ala329Val)
|
rs201987100
|
0.00004
|
NM_144596.4(TTC8):c.1052G>A (p.Arg351Gln)
|
rs779617849
|
0.00004
|
NM_144596.4(TTC8):c.114+6G>C
|
rs370326452
|
0.00004
|
NM_144596.4(TTC8):c.1431+12C>T
|
rs201053086
|
0.00004
|
NM_144596.4(TTC8):c.145-7G>A
|
rs368220069
|
0.00004
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
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.185T>C (p.Leu62Ser)
|
rs370501865
|
0.00004
|
NM_152384.3(BBS5):c.208+15T>C
|
rs1019098515
|
0.00004
|
NM_152384.3(BBS5):c.475C>T (p.His159Tyr)
|
rs757525125
|
0.00004
|
NM_152384.3(BBS5):c.480A>G (p.Val160=)
|
rs779349158
|
0.00004
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
NM_152384.3(BBS5):c.693T>C (p.Tyr231=)
|
rs150178711
|
0.00004
|
NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys)
|
rs376537695
|
0.00004
|
NM_152384.3(BBS5):c.825G>A (p.Pro275=)
|
rs554049177
|
0.00004
|
NM_152618.3(BBS12):c.1230C>T (p.Asn410=)
|
rs142657474
|
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.1995T>C (p.Val665=)
|
rs771980986
|
0.00004
|
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)
|
rs750366365
|
0.00004
|
NM_152618.3(BBS12):c.2024G>A (p.Arg675Gln)
|
rs144843913
|
0.00004
|
NM_152618.3(BBS12):c.2094G>C (p.Gln698His)
|
rs373082306
|
0.00004
|
NM_152618.3(BBS12):c.2100T>C (p.Asn700=)
|
rs145847043
|
0.00004
|
NM_152618.3(BBS12):c.21C>T (p.Val7=)
|
rs754702110
|
0.00004
|
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)
|
rs1450190654
|
0.00004
|
NM_152618.3(BBS12):c.60A>G (p.Ser20=)
|
rs759975718
|
0.00004
|
NM_152618.3(BBS12):c.68C>T (p.Ala23Val)
|
rs200240034
|
0.00004
|
NM_152618.3(BBS12):c.69G>A (p.Ala23=)
|
rs138579304
|
0.00004
|
NM_152618.3(BBS12):c.809A>C (p.Glu270Ala)
|
rs915644000
|
0.00004
|
NM_176824.3(BBS7):c.1314C>T (p.Asp438=)
|
rs774070535
|
0.00004
|
NM_176824.3(BBS7):c.1806C>G (p.Val602=)
|
rs752970955
|
0.00004
|
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
|
rs754579374
|
0.00004
|
NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile)
|
rs534408910
|
0.00004
|
NM_176824.3(BBS7):c.601+3A>G
|
rs747555346
|
0.00004
|
NM_176824.3(BBS7):c.863G>A (p.Ser288Asn)
|
rs750276510
|
0.00004
|
NM_176824.3(BBS7):c.865G>A (p.Val289Ile)
|
rs200770952
|
0.00004
|
NM_176824.3(BBS7):c.974A>G (p.Glu325Gly)
|
rs1255872676
|
0.00004
|
NM_198428.3(BBS9):c.113-14T>A
|
rs543714605
|
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.1237G>A (p.Val413Ile)
|
rs778518775
|
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.1611A>C (p.Pro537=)
|
rs140411078
|
0.00004
|
NM_198428.3(BBS9):c.1889A>G (p.Lys630Arg)
|
rs561404900
|
0.00004
|
NM_198428.3(BBS9):c.2215G>A (p.Ala739Thr)
|
rs369881355
|
0.00004
|
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe)
|
rs779871496
|
0.00004
|
NM_198428.3(BBS9):c.2550C>A (p.Asp850Glu)
|
rs768072201
|
0.00004
|
NM_198428.3(BBS9):c.2605C>T (p.His869Tyr)
|
rs938197989
|
0.00004
|
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter)
|
rs150826095
|
0.00004
|
NM_198428.3(BBS9):c.2657C>T (p.Ser886Leu)
|
rs779169794
|
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.600A>G (p.Gln200=)
|
rs764060515
|
0.00004
|
NM_198428.3(BBS9):c.702+6G>A
|
rs777329822
|
0.00004
|
NM_198428.3(BBS9):c.715C>T (p.Leu239=)
|
rs751112173
|
0.00004
|
NM_198428.3(BBS9):c.809G>C (p.Cys270Ser)
|
rs763742314
|
0.00004
|
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg)
|
rs377207430
|
0.00004
|
NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys)
|
rs754554333
|
0.00003
|
NM_012210.4(TRIM32):c.1191C>G (p.Val397=)
|
rs757752867
|
0.00003
|
NM_012210.4(TRIM32):c.1226G>A (p.Arg409His)
|
rs145828717
|
0.00003
|
NM_012210.4(TRIM32):c.133C>T (p.Arg45Cys)
|
rs753738560
|
0.00003
|
NM_012210.4(TRIM32):c.1400G>C (p.Ser467Thr)
|
rs151116227
|
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.1780A>G (p.Ser594Gly)
|
rs757524831
|
0.00003
|
NM_012210.4(TRIM32):c.1930A>G (p.Ser644Gly)
|
rs1462453134
|
0.00003
|
NM_012210.4(TRIM32):c.206G>A (p.Arg69His)
|
rs11556350
|
0.00003
|
NM_012210.4(TRIM32):c.24C>A (p.His8Gln)
|
rs774511117
|
0.00003
|
NM_012210.4(TRIM32):c.337C>T (p.Arg113Trp)
|
rs762785784
|
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_012210.4(TRIM32):c.812G>A (p.Arg271Gln)
|
rs773872830
|
0.00003
|
NM_015910.7(WDPCP):c.1356G>A (p.Lys452=)
|
rs372258764
|
0.00003
|
NM_015910.7(WDPCP):c.1575C>T (p.Ser525=)
|
rs375693256
|
0.00003
|
NM_015910.7(WDPCP):c.158C>T (p.Ala53Val)
|
rs149347732
|
0.00003
|
NM_015910.7(WDPCP):c.1799G>A (p.Arg600His)
|
rs375036014
|
0.00003
|
NM_015910.7(WDPCP):c.25G>C (p.Ala9Pro)
|
rs780151486
|
0.00003
|
NM_015910.7(WDPCP):c.272C>T (p.Thr91Met)
|
rs753130718
|
0.00003
|
NM_015910.7(WDPCP):c.286C>T (p.Arg96Cys)
|
rs375338402
|
0.00003
|
NM_015910.7(WDPCP):c.33C>T (p.Ser11=)
|
rs557213834
|
0.00003
|
NM_015910.7(WDPCP):c.410T>C (p.Val137Ala)
|
rs780789710
|
0.00003
|
NM_015910.7(WDPCP):c.633+19A>G
|
rs766935204
|
0.00003
|
NM_015910.7(WDPCP):c.691A>G (p.Ile231Val)
|
rs769180655
|
0.00003
|
NM_015910.7(WDPCP):c.76-15T>A
|
rs200557033
|
0.00003
|
NM_015910.7(WDPCP):c.806A>G (p.Tyr269Cys)
|
rs749575727
|
0.00003
|
NM_015910.7(WDPCP):c.841C>T (p.Arg281Cys)
|
rs747564290
|
0.00003
|
NM_024649.5(BBS1):c.1067G>A (p.Arg356His)
|
rs771291825
|
0.00003
|
NM_024649.5(BBS1):c.1111-13C>T
|
rs768620927
|
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.518+20C>T
|
rs375567052
|
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.1154G>A (p.Gly385Asp)
|
rs774809155
|
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.1743G>A (p.Pro581=)
|
rs150530553
|
0.00003
|
NM_024685.4(BBS10):c.197+11C>A
|
rs766419844
|
0.00003
|
NM_024685.4(BBS10):c.1970C>T (p.Thr657Ile)
|
rs773540960
|
0.00003
|
NM_024685.4(BBS10):c.198-19T>A
|
rs368334772
|
0.00003
|
NM_024685.4(BBS10):c.198-3C>T
|
rs779659204
|
0.00003
|
NM_024685.4(BBS10):c.1A>G (p.Met1Val)
|
rs752145803
|
0.00003
|
NM_024685.4(BBS10):c.462G>A (p.Leu154=)
|
rs764687344
|
0.00003
|
NM_024685.4(BBS10):c.756T>C (p.Asp252=)
|
rs762540567
|
0.00003
|
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr)
|
rs1160564103
|
0.00003
|
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp)
|
rs143607562
|
0.00003
|
NM_031885.5(BBS2):c.117+10C>T
|
rs376041093
|
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.1284C>T (p.His428=)
|
rs757521927
|
0.00003
|
NM_031885.5(BBS2):c.1527+12G>A
|
rs376715521
|
0.00003
|
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp)
|
rs1175381219
|
0.00003
|
NM_031885.5(BBS2):c.1878C>T (p.Val626=)
|
rs555264290
|
0.00003
|
NM_031885.5(BBS2):c.1890T>C (p.Asp630=)
|
rs1176715641
|
0.00003
|
NM_031885.5(BBS2):c.1928G>A (p.Arg643His)
|
rs532361142
|
0.00003
|
NM_031885.5(BBS2):c.1950T>C (p.Leu650=)
|
rs752978565
|
0.00003
|
NM_031885.5(BBS2):c.1982G>A (p.Arg661His)
|
rs747686535
|
0.00003
|
NM_031885.5(BBS2):c.2059+15A>G
|
rs571449292
|
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.401C>G (p.Pro134Arg)
|
rs376306240
|
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.717+16C>A
|
rs752825833
|
0.00003
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
NM_031885.5(BBS2):c.851A>G (p.Asn284Ser)
|
rs377749641
|
0.00003
|
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)
|
rs121908178
|
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.1270T>C (p.Leu424=)
|
rs376011637
|
0.00003
|
NM_033028.5(BBS4):c.1327C>G (p.Pro443Ala)
|
rs760115702
|
0.00003
|
NM_033028.5(BBS4):c.1462A>G (p.Thr488Ala)
|
rs746070171
|
0.00003
|
NM_033028.5(BBS4):c.1550G>A (p.Arg517Lys)
|
rs201651412
|
0.00003
|
NM_033028.5(BBS4):c.233G>A (p.Arg78His)
|
rs200396355
|
0.00003
|
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu)
|
rs372822977
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_033028.5(BBS4):c.928T>C (p.Leu310=)
|
rs375714932
|
0.00003
|
NM_033028.5(BBS4):c.963A>G (p.Ala321=)
|
rs368144793
|
0.00003
|
NM_033028.5(BBS4):c.975T>A (p.His325Gln)
|
rs769873362
|
0.00003
|
NM_144596.4(TTC8):c.1040G>A (p.Arg347Gln)
|
rs1246614842
|
0.00003
|
NM_144596.4(TTC8):c.1328G>A (p.Arg443Gln)
|
rs746920262
|
0.00003
|
NM_144596.4(TTC8):c.1542G>A (p.Met514Ile)
|
rs571571526
|
0.00003
|
NM_144596.4(TTC8):c.401C>T (p.Thr134Ile)
|
rs982852104
|
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.568C>T (p.His190Tyr)
|
rs1264901746
|
0.00003
|
NM_152384.3(BBS5):c.600T>C (p.Ser200=)
|
rs1229922724
|
0.00003
|
NM_152384.3(BBS5):c.668A>T (p.Glu223Val)
|
rs775524491
|
0.00003
|
NM_152384.3(BBS5):c.808G>A (p.Glu270Lys)
|
rs199846010
|
0.00003
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
0.00003
|
NM_152618.3(BBS12):c.1197C>T (p.His399=)
|
rs764483162
|
0.00003
|
NM_152618.3(BBS12):c.1303G>A (p.Gly435Ser)
|
rs762853916
|
0.00003
|
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys)
|
rs543608786
|
0.00003
|
NM_152618.3(BBS12):c.1608C>T (p.Phe536=)
|
rs148277417
|
0.00003
|
NM_152618.3(BBS12):c.1913A>G (p.Asn638Ser)
|
rs931117746
|
0.00003
|
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser)
|
rs777615072
|
0.00003
|
NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp)
|
rs768987725
|
0.00003
|
NM_176824.3(BBS7):c.1512-12A>G
|
rs369411905
|
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_176824.3(BBS7):c.1746A>G (p.Lys582=)
|
rs1185659710
|
0.00003
|
NM_176824.3(BBS7):c.192G>A (p.Pro64=)
|
rs775906320
|
0.00003
|
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly)
|
rs201096775
|
0.00003
|
NM_176824.3(BBS7):c.719-16A>G
|
rs1311400903
|
0.00003
|
NM_176824.3(BBS7):c.789C>T (p.Asp263=)
|
rs140478463
|
0.00003
|
NM_176824.3(BBS7):c.908A>T (p.Asp303Val)
|
rs1261951183
|
0.00003
|
NM_198428.3(BBS9):c.1236C>T (p.Asn412=)
|
rs139235142
|
0.00003
|
NM_198428.3(BBS9):c.1264G>T (p.Asp422Tyr)
|
rs140198337
|
0.00003
|
NM_198428.3(BBS9):c.1377C>T (p.Val459=)
|
rs763552337
|
0.00003
|
NM_198428.3(BBS9):c.1480A>T (p.Ser494Cys)
|
rs765846163
|
0.00003
|
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala)
|
rs369146555
|
0.00003
|
NM_198428.3(BBS9):c.1553-11T>C
|
rs756802547
|
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.190C>T (p.Gln64Ter)
|
rs769256027
|
0.00003
|
NM_198428.3(BBS9):c.2020C>T (p.Arg674Trp)
|
rs368526968
|
0.00003
|
NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile)
|
rs749948775
|
0.00003
|
NM_198428.3(BBS9):c.2487C>T (p.Thr829=)
|
rs746373450
|
0.00003
|
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn)
|
rs368704638
|
0.00003
|
NM_198428.3(BBS9):c.2538C>T (p.Ile846=)
|
rs376692708
|
0.00003
|
NM_198428.3(BBS9):c.528T>A (p.Pro176=)
|
rs757308943
|
0.00003
|
NM_012210.4(TRIM32):c.1046C>G (p.Ala349Gly)
|
rs774316527
|
0.00002
|
NM_012210.4(TRIM32):c.1140C>T (p.Thr380=)
|
rs142715198
|
0.00002
|
NM_012210.4(TRIM32):c.1169G>A (p.Arg390His)
|
rs146094774
|
0.00002
|
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)
|
rs121434447
|
0.00002
|
NM_012210.4(TRIM32):c.1530A>G (p.Leu510=)
|
rs145728860
|
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.1838G>A (p.Arg613Gln)
|
rs199704873
|
0.00002
|
NM_012210.4(TRIM32):c.1842G>A (p.Glu614=)
|
rs149509191
|
0.00002
|
NM_012210.4(TRIM32):c.1857G>A (p.Pro619=)
|
rs746299779
|
0.00002
|
NM_012210.4(TRIM32):c.212C>T (p.Thr71Ile)
|
rs779530342
|
0.00002
|
NM_012210.4(TRIM32):c.314G>A (p.Arg105Gln)
|
rs949658602
|
0.00002
|
NM_012210.4(TRIM32):c.321G>T (p.Leu107=)
|
rs768844180
|
0.00002
|
NM_012210.4(TRIM32):c.326G>A (p.Arg109Gln)
|
rs748324526
|
0.00002
|
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)
|
rs572052810
|
0.00002
|
NM_012210.4(TRIM32):c.374A>G (p.Glu125Gly)
|
rs758786326
|
0.00002
|
NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln)
|
rs552938001
|
0.00002
|
NM_012210.4(TRIM32):c.497G>A (p.Arg166Gln)
|
rs759945386
|
0.00002
|
NM_012210.4(TRIM32):c.543T>C (p.Tyr181=)
|
rs1344038304
|
0.00002
|
NM_012210.4(TRIM32):c.603C>T (p.Arg201=)
|
rs767937527
|
0.00002
|
NM_012210.4(TRIM32):c.712C>T (p.Arg238Cys)
|
rs769410403
|
0.00002
|
NM_012210.4(TRIM32):c.737T>C (p.Ile246Thr)
|
rs533236140
|
0.00002
|
NM_012210.4(TRIM32):c.807G>A (p.Leu269=)
|
rs1184553729
|
0.00002
|
NM_012210.4(TRIM32):c.86A>G (p.Glu29Gly)
|
rs757842932
|
0.00002
|
NM_012210.4(TRIM32):c.896G>A (p.Arg299Gln)
|
rs766439806
|
0.00002
|
NM_012210.4(TRIM32):c.907G>A (p.Val303Met)
|
rs144532174
|
0.00002
|
NM_012210.4(TRIM32):c.978C>T (p.Asp326=)
|
rs759707001
|
0.00002
|
NM_015910.7(WDPCP):c.1379A>T (p.Asp460Val)
|
rs367834809
|
0.00002
|
NM_015910.7(WDPCP):c.1436-4A>G
|
rs773663574
|
0.00002
|
NM_015910.7(WDPCP):c.151C>T (p.His51Tyr)
|
rs779689937
|
0.00002
|
NM_015910.7(WDPCP):c.1671A>G (p.Pro557=)
|
rs202162023
|
0.00002
|
NM_015910.7(WDPCP):c.1784T>A (p.Val595Asp)
|
rs761696659
|
0.00002
|
NM_015910.7(WDPCP):c.1916-4A>G
|
rs764595056
|
0.00002
|
NM_015910.7(WDPCP):c.2003C>T (p.Pro668Leu)
|
rs757409957
|
0.00002
|
NM_015910.7(WDPCP):c.208+6G>T
|
rs775227440
|
0.00002
|
NM_015910.7(WDPCP):c.209-5A>G
|
rs750564657
|
0.00002
|
NM_015910.7(WDPCP):c.2210C>A (p.Ser737Tyr)
|
rs746369214
|
0.00002
|
NM_015910.7(WDPCP):c.333G>A (p.Met111Ile)
|
rs778069760
|
0.00002
|
NM_015910.7(WDPCP):c.334C>G (p.Gln112Glu)
|
rs758543575
|
0.00002
|
NM_015910.7(WDPCP):c.499+9C>T
|
rs746261282
|
0.00002
|
NM_015910.7(WDPCP):c.634-12T>A
|
rs779141559
|
0.00002
|
NM_015910.7(WDPCP):c.685C>G (p.Leu229Val)
|
rs762453550
|
0.00002
|
NM_015910.7(WDPCP):c.771T>A (p.Ser257=)
|
rs764847886
|
0.00002
|
NM_015910.7(WDPCP):c.801G>T (p.Leu267=)
|
rs773061700
|
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.1295G>A (p.Arg432Gln)
|
rs138491266
|
0.00002
|
NM_024649.5(BBS1):c.1346A>T (p.His449Leu)
|
rs777746992
|
0.00002
|
NM_024649.5(BBS1):c.1380C>A (p.Arg460=)
|
rs1167767003
|
0.00002
|
NM_024649.5(BBS1):c.1474-19C>T
|
rs755940643
|
0.00002
|
NM_024649.5(BBS1):c.1474G>T (p.Val492Phe)
|
rs747604822
|
0.00002
|
NM_024649.5(BBS1):c.1533C>G (p.Thr511=)
|
rs112953332
|
0.00002
|
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala)
|
rs1316472200
|
0.00002
|
NM_024649.5(BBS1):c.160-10C>G
|
rs202108911
|
0.00002
|
NM_024649.5(BBS1):c.1608+7G>A
|
rs776545195
|
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.21G>T (p.Ser7=)
|
rs745789744
|
0.00002
|
NM_024649.5(BBS1):c.243G>A (p.Pro81=)
|
rs141429900
|
0.00002
|
NM_024649.5(BBS1):c.253C>T (p.Leu85=)
|
rs748727758
|
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.47+7G>C
|
rs370342126
|
0.00002
|
NM_024649.5(BBS1):c.479+2T>G
|
rs1353098253
|
0.00002
|
NM_024649.5(BBS1):c.48-8A>G
|
rs753125999
|
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.724-15G>A
|
rs376386231
|
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_024649.5(BBS1):c.939C>T (p.Gly313=)
|
rs755023569
|
0.00002
|
NM_024649.5(BBS1):c.96C>T (p.Ala32=)
|
rs776061360
|
0.00002
|
NM_024685.4(BBS10):c.1034T>C (p.Ile345Thr)
|
rs761897354
|
0.00002
|
NM_024685.4(BBS10):c.1041T>C (p.Gly347=)
|
rs747390360
|
0.00002
|
NM_024685.4(BBS10):c.1164C>T (p.Ser388=)
|
rs1484593364
|
0.00002
|
NM_024685.4(BBS10):c.1215T>G (p.Gly405=)
|
rs751592378
|
0.00002
|
NM_024685.4(BBS10):c.1232A>G (p.Glu411Gly)
|
rs760904517
|
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.1437A>G (p.Ala479=)
|
rs201701959
|
0.00002
|
NM_024685.4(BBS10):c.1438T>C (p.Leu480=)
|
rs746529935
|
0.00002
|
NM_024685.4(BBS10):c.1527C>G (p.Pro509=)
|
rs762271852
|
0.00002
|
NM_024685.4(BBS10):c.1572A>G (p.Thr524=)
|
rs1271927802
|
0.00002
|
NM_024685.4(BBS10):c.1607A>G (p.Tyr536Cys)
|
rs765785183
|
0.00002
|
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)
|
rs1460517643
|
0.00002
|
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)
|
rs1555202584
|
0.00002
|
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr)
|
rs373626588
|
0.00002
|
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu)
|
rs762432475
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024685.4(BBS10):c.1936A>G (p.Lys646Glu)
|
rs757995171
|
0.00002
|
NM_024685.4(BBS10):c.198-10T>C
|
rs376497190
|
0.00002
|
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro)
|
rs759387000
|
0.00002
|
NM_024685.4(BBS10):c.402A>G (p.Leu134=)
|
rs762331843
|
0.00002
|
NM_024685.4(BBS10):c.637T>C (p.Leu213=)
|
rs367795705
|
0.00002
|
NM_024685.4(BBS10):c.63G>A (p.Leu21=)
|
rs779366264
|
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_031885.5(BBS2):c.112G>A (p.Gly38Ser)
|
rs768699088
|
0.00002
|
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)
|
rs886043059
|
0.00002
|
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe)
|
rs1428784861
|
0.00002
|
NM_031885.5(BBS2):c.1225+17A>G
|
rs1444102830
|
0.00002
|
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val)
|
rs145757541
|
0.00002
|
NM_031885.5(BBS2):c.1456C>T (p.Leu486=)
|
rs780493609
|
0.00002
|
NM_031885.5(BBS2):c.1458G>A (p.Leu486=)
|
rs756379392
|
0.00002
|
NM_031885.5(BBS2):c.1470C>T (p.Asp490=)
|
rs370024579
|
0.00002
|
NM_031885.5(BBS2):c.1616G>A (p.Arg539Gln)
|
rs753398421
|
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.1851T>C (p.His617=)
|
rs1259765246
|
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.1910+9T>G
|
rs751604858
|
0.00002
|
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr)
|
rs757737589
|
0.00002
|
NM_031885.5(BBS2):c.2016C>G (p.Leu672=)
|
rs768160656
|
0.00002
|
NM_031885.5(BBS2):c.2088T>C (p.Thr696=)
|
rs886052144
|
0.00002
|
NM_031885.5(BBS2):c.2104A>G (p.Ile702Val)
|
rs750150867
|
0.00002
|
NM_031885.5(BBS2):c.2125A>T (p.Thr709Ser)
|
rs202054876
|
0.00002
|
NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln)
|
rs761068592
|
0.00002
|
NM_031885.5(BBS2):c.382T>C (p.Leu128=)
|
rs374060552
|
0.00002
|
NM_031885.5(BBS2):c.613-12A>G
|
rs900817907
|
0.00002
|
NM_031885.5(BBS2):c.657T>C (p.Tyr219=)
|
rs139106996
|
0.00002
|
NM_031885.5(BBS2):c.685T>C (p.Tyr229His)
|
rs778543585
|
0.00002
|
NM_031885.5(BBS2):c.691A>G (p.Lys231Glu)
|
rs754487754
|
0.00002
|
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)
|
rs764164384
|
0.00002
|
NM_031885.5(BBS2):c.819T>C (p.Ser273=)
|
rs550992948
|
0.00002
|
NM_031885.5(BBS2):c.91C>T (p.Leu31=)
|
rs373185970
|
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_031885.5(BBS2):c.988G>A (p.Asp330Asn)
|
rs144573829
|
0.00002
|
NM_033028.5(BBS4):c.1126C>G (p.Leu376Val)
|
rs760324204
|
0.00002
|
NM_033028.5(BBS4):c.12G>A (p.Glu4=)
|
rs543735239
|
0.00002
|
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)
|
rs914062190
|
0.00002
|
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)
|
rs754792792
|
0.00002
|
NM_033028.5(BBS4):c.1443C>T (p.Leu481=)
|
rs748092163
|
0.00002
|
NM_033028.5(BBS4):c.153C>T (p.Cys51=)
|
rs754709708
|
0.00002
|
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)
|
rs758120829
|
0.00002
|
NM_033028.5(BBS4):c.25-18C>T
|
rs140934493
|
0.00002
|
NM_033028.5(BBS4):c.282A>G (p.Ala94=)
|
rs370868102
|
0.00002
|
NM_033028.5(BBS4):c.332+5G>A
|
rs758789705
|
0.00002
|
NM_033028.5(BBS4):c.333-3C>T
|
rs369781535
|
0.00002
|
NM_033028.5(BBS4):c.799C>G (p.Pro267Ala)
|
rs775034843
|
0.00002
|
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu)
|
rs200086953
|
0.00002
|
NM_144596.4(TTC8):c.1347+6T>G
|
rs368072201
|
0.00002
|
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val)
|
rs139195149
|
0.00002
|
NM_144596.4(TTC8):c.23T>A (p.Leu8Gln)
|
rs1277993132
|
0.00002
|
NM_144596.4(TTC8):c.322G>A (p.Ala108Thr)
|
rs1000702394
|
0.00002
|
NM_144596.4(TTC8):c.325G>A (p.Val109Ile)
|
rs150067562
|
0.00002
|
NM_144596.4(TTC8):c.372G>A (p.Arg124=)
|
rs762722585
|
0.00002
|
NM_144596.4(TTC8):c.432C>T (p.Thr144=)
|
rs748561167
|
0.00002
|
NM_144596.4(TTC8):c.43T>C (p.Phe15Leu)
|
rs1379428942
|
0.00002
|
NM_144596.4(TTC8):c.445C>T (p.Arg149Cys)
|
rs781214218
|
0.00002
|
NM_144596.4(TTC8):c.446G>A (p.Arg149His)
|
rs768271175
|
0.00002
|
NM_144596.4(TTC8):c.466G>A (p.Gly156Arg)
|
rs750521601
|
0.00002
|
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn)
|
rs199571677
|
0.00002
|
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys)
|
rs1018209116
|
0.00002
|
NM_144596.4(TTC8):c.625-12T>C
|
rs372412832
|
0.00002
|
NM_144596.4(TTC8):c.642C>G (p.Ala214=)
|
rs141305911
|
0.00002
|
NM_144596.4(TTC8):c.753C>T (p.Ala251=)
|
rs367897453
|
0.00002
|
NM_144596.4(TTC8):c.799-11C>T
|
rs768485587
|
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_152384.3(BBS5):c.226A>G (p.Ile76Val)
|
rs763696357
|
0.00002
|
NM_152384.3(BBS5):c.229T>A (p.Leu77Met)
|
rs753387321
|
0.00002
|
NM_152384.3(BBS5):c.462G>C (p.Leu154=)
|
rs767240340
|
0.00002
|
NM_152384.3(BBS5):c.619-9T>C
|
rs755143488
|
0.00002
|
NM_152384.3(BBS5):c.786A>C (p.Ile262=)
|
rs769669565
|
0.00002
|
NM_152384.3(BBS5):c.792A>T (p.Gly264=)
|
rs773030426
|
0.00002
|
NM_152384.3(BBS5):c.925-15C>T
|
rs776117757
|
0.00002
|
NM_152384.3(BBS5):c.935G>A (p.Arg312His)
|
rs751420732
|
0.00002
|
NM_152384.3(BBS5):c.979T>C (p.Leu327=)
|
rs371959839
|
0.00002
|
NM_152618.3(BBS12):c.1101C>T (p.Tyr367=)
|
rs775552494
|
0.00002
|
NM_152618.3(BBS12):c.1108C>T (p.Leu370=)
|
rs777279530
|
0.00002
|
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln)
|
rs776216693
|
0.00002
|
NM_152618.3(BBS12):c.1455C>T (p.Asn485=)
|
rs769369013
|
0.00002
|
NM_152618.3(BBS12):c.1524T>C (p.Val508=)
|
rs1404842497
|
0.00002
|
NM_152618.3(BBS12):c.1662A>G (p.Ala554=)
|
rs1424604685
|
0.00002
|
NM_152618.3(BBS12):c.166C>T (p.Leu56Phe)
|
rs751515113
|
0.00002
|
NM_152618.3(BBS12):c.1830A>G (p.Ser610=)
|
rs528535207
|
0.00002
|
NM_152618.3(BBS12):c.1845C>G (p.Ala615=)
|
rs773424236
|
0.00002
|
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)
|
rs759088490
|
0.00002
|
NM_152618.3(BBS12):c.2021G>A (p.Arg674His)
|
rs766952842
|
0.00002
|
NM_152618.3(BBS12):c.66C>T (p.Phe22=)
|
rs150546366
|
0.00002
|
NM_152618.3(BBS12):c.75A>G (p.Thr25=)
|
rs754811440
|
0.00002
|
NM_152618.3(BBS12):c.775A>G (p.Thr259Ala)
|
rs746565072
|
0.00002
|
NM_152618.3(BBS12):c.879A>G (p.Gln293=)
|
rs981575853
|
0.00002
|
NM_176824.3(BBS7):c.1191C>T (p.Ile397=)
|
rs144483021
|
0.00002
|
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr)
|
rs758567781
|
0.00002
|
NM_176824.3(BBS7):c.1305+13A>G
|
rs773872987
|
0.00002
|
NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln)
|
rs372685495
|
0.00002
|
NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys)
|
rs747889031
|
0.00002
|
NM_176824.3(BBS7):c.1677-12T>C
|
rs1169349356
|
0.00002
|
NM_176824.3(BBS7):c.1755A>G (p.Thr585=)
|
rs1725022392
|
0.00002
|
NM_176824.3(BBS7):c.1869G>A (p.Val623=)
|
rs769405089
|
0.00002
|
NM_176824.3(BBS7):c.2146T>C (p.Ter716Arg)
|
rs200470633
|
0.00002
|
NM_176824.3(BBS7):c.37G>A (p.Val13Met)
|
rs753027552
|
0.00002
|
NM_176824.3(BBS7):c.442A>C (p.Asn148His)
|
rs982037757
|
0.00002
|
NM_176824.3(BBS7):c.478C>T (p.Arg160Cys)
|
rs756538454
|
0.00002
|
NM_176824.3(BBS7):c.508A>G (p.Arg170Gly)
|
rs199891330
|
0.00002
|
NM_176824.3(BBS7):c.532T>A (p.Ser178Thr)
|
rs750684046
|
0.00002
|
NM_176824.3(BBS7):c.639C>T (p.Asp213=)
|
rs150407489
|
0.00002
|
NM_176824.3(BBS7):c.718+12A>G
|
rs774687060
|
0.00002
|
NM_198428.3(BBS9):c.102A>T (p.Gly34=)
|
rs753601080
|
0.00002
|
NM_198428.3(BBS9):c.1431G>A (p.Met477Ile)
|
rs1443035026
|
0.00002
|
NM_198428.3(BBS9):c.145C>G (p.Leu49Val)
|
rs777409972
|
0.00002
|
NM_198428.3(BBS9):c.1553-17T>A
|
rs1297146159
|
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.2036G>A (p.Arg679Gln)
|
rs768958916
|
0.00002
|
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu)
|
rs760800602
|
0.00002
|
NM_198428.3(BBS9):c.205C>A (p.Leu69Ile)
|
rs375757123
|
0.00002
|
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)
|
rs775081992
|
0.00002
|
NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal)
|
rs752782918
|
0.00002
|
NM_198428.3(BBS9):c.2445C>G (p.Leu815=)
|
rs758338410
|
0.00002
|
NM_198428.3(BBS9):c.2468G>A (p.Gly823Asp)
|
rs1176589347
|
0.00002
|
NM_198428.3(BBS9):c.249A>T (p.Val83=)
|
rs377626008
|
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.433G>A (p.Gly145Ser)
|
rs144340890
|
0.00002
|
NM_198428.3(BBS9):c.565C>T (p.Arg189Cys)
|
rs776941068
|
0.00002
|
NM_198428.3(BBS9):c.566G>A (p.Arg189His)
|
rs547643751
|
0.00002
|
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly)
|
rs1264926096
|
0.00002
|
NM_012210.4(TRIM32):c.1004G>A (p.Ser335Asn)
|
rs778321975
|
0.00001
|
NM_012210.4(TRIM32):c.1039G>C (p.Glu347Gln)
|
rs1564217118
|
0.00001
|
NM_012210.4(TRIM32):c.1042G>T (p.Ala348Ser)
|
rs771427815
|
0.00001
|
NM_012210.4(TRIM32):c.1061A>G (p.Gln354Arg)
|
rs1266244841
|
0.00001
|
NM_012210.4(TRIM32):c.1081A>T (p.Met361Leu)
|
rs1262205918
|
0.00001
|
NM_012210.4(TRIM32):c.1115A>G (p.Asn372Ser)
|
rs781488306
|
0.00001
|
NM_012210.4(TRIM32):c.1124T>G (p.Val375Gly)
|
rs886044107
|
0.00001
|
NM_012210.4(TRIM32):c.1142G>A (p.Ser381Asn)
|
rs1432191841
|
0.00001
|
NM_012210.4(TRIM32):c.114C>T (p.His38=)
|
rs761012752
|
0.00001
|
NM_012210.4(TRIM32):c.1153G>A (p.Val385Ile)
|
rs1564217317
|
0.00001
|
NM_012210.4(TRIM32):c.1161C>T (p.Val387=)
|
rs751224092
|
0.00001
|
NM_012210.4(TRIM32):c.1162G>A (p.Ala388Thr)
|
rs886042328
|
0.00001
|
NM_012210.4(TRIM32):c.1196C>T (p.Thr399Ile)
|
rs1182257457
|
0.00001
|
NM_012210.4(TRIM32):c.119G>C (p.Gly40Ala)
|
rs1159231558
|
0.00001
|
NM_012210.4(TRIM32):c.1225C>T (p.Arg409Cys)
|
rs765158423
|
0.00001
|
NM_012210.4(TRIM32):c.1245T>C (p.Asp415=)
|
rs1297665633
|
0.00001
|
NM_012210.4(TRIM32):c.1269G>A (p.Gly423=)
|
rs1335843396
|
0.00001
|
NM_012210.4(TRIM32):c.1306A>G (p.Met436Val)
|
rs746383181
|
0.00001
|
NM_012210.4(TRIM32):c.1321C>G (p.Leu441Val)
|
rs987882732
|
0.00001
|
NM_012210.4(TRIM32):c.1326T>A (p.Ile442=)
|
rs1372713940
|
0.00001
|
NM_012210.4(TRIM32):c.134G>A (p.Arg45His)
|
rs143760041
|
0.00001
|
NM_012210.4(TRIM32):c.1369T>G (p.Leu457Val)
|
rs1275345258
|
0.00001
|
NM_012210.4(TRIM32):c.136C>G (p.Gln46Glu)
|
rs1193048642
|
0.00001
|
NM_012210.4(TRIM32):c.1383C>T (p.Cys461=)
|
rs200244154
|
0.00001
|
NM_012210.4(TRIM32):c.1386G>A (p.Val462=)
|
rs762905941
|
0.00001
|
NM_012210.4(TRIM32):c.1437A>T (p.Pro479=)
|
rs1861046990
|
0.00001
|
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)
|
rs111033570
|
0.00001
|
NM_012210.4(TRIM32):c.1488C>G (p.Phe496Leu)
|
rs371233848
|
0.00001
|
NM_012210.4(TRIM32):c.1540G>A (p.Val514Met)
|
rs755369647
|
0.00001
|
NM_012210.4(TRIM32):c.1578C>T (p.Thr526=)
|
rs778620127
|
0.00001
|
NM_012210.4(TRIM32):c.15A>C (p.Ala5=)
|
rs1435764832
|
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.1642G>A (p.Gly548Ser)
|
rs946701093
|
0.00001
|
NM_012210.4(TRIM32):c.1709C>T (p.Ser570Leu)
|
rs746590049
|
0.00001
|
NM_012210.4(TRIM32):c.1727G>A (p.Arg576His)
|
rs769518349
|
0.00001
|
NM_012210.4(TRIM32):c.176T>C (p.Val59Ala)
|
rs1261435168
|
0.00001
|
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)
|
rs199664043
|
0.00001
|
NM_012210.4(TRIM32):c.1853G>C (p.Cys618Ser)
|
rs777285202
|
0.00001
|
NM_012210.4(TRIM32):c.1855C>T (p.Pro619Ser)
|
rs368240408
|
0.00001
|
NM_012210.4(TRIM32):c.1860G>A (p.Val620=)
|
rs772336687
|
0.00001
|
NM_012210.4(TRIM32):c.1876C>T (p.Pro626Ser)
|
rs769128859
|
0.00001
|
NM_012210.4(TRIM32):c.1882G>A (p.Gly628Arg)
|
rs1360716233
|
0.00001
|
NM_012210.4(TRIM32):c.1931G>T (p.Ser644Ile)
|
rs765555919
|
0.00001
|
NM_012210.4(TRIM32):c.1954A>G (p.Thr652Ala)
|
rs763172140
|
0.00001
|
NM_012210.4(TRIM32):c.1957C>T (p.Pro653Ser)
|
rs899549661
|
0.00001
|
NM_012210.4(TRIM32):c.1959A>G (p.Pro653=)
|
rs1446030395
|
0.00001
|
NM_012210.4(TRIM32):c.236A>G (p.Asn79Ser)
|
rs775738712
|
0.00001
|
NM_012210.4(TRIM32):c.270G>A (p.Gly90=)
|
rs369862143
|
0.00001
|
NM_012210.4(TRIM32):c.273C>T (p.Leu91=)
|
rs766289627
|
0.00001
|
NM_012210.4(TRIM32):c.274A>G (p.Ser92Gly)
|
rs1860959982
|
0.00001
|
NM_012210.4(TRIM32):c.277G>A (p.Glu93Lys)
|
rs754449534
|
0.00001
|
NM_012210.4(TRIM32):c.284T>C (p.Val95Ala)
|
rs780885702
|
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.371G>A (p.Arg124Gln)
|
rs750797541
|
0.00001
|
NM_012210.4(TRIM32):c.375G>A (p.Glu125=)
|
rs780765510
|
0.00001
|
NM_012210.4(TRIM32):c.377C>T (p.Ala126Val)
|
rs755478136
|
0.00001
|
NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)
|
rs111033571
|
0.00001
|
NM_012210.4(TRIM32):c.430G>A (p.Glu144Lys)
|
rs760202414
|
0.00001
|
NM_012210.4(TRIM32):c.43C>T (p.Arg15Trp)
|
rs1202455552
|
0.00001
|
NM_012210.4(TRIM32):c.44G>A (p.Arg15Gln)
|
rs1341334730
|
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.555C>G (p.Leu185=)
|
rs757526804
|
0.00001
|
NM_012210.4(TRIM32):c.55G>C (p.Glu19Gln)
|
rs757287996
|
0.00001
|
NM_012210.4(TRIM32):c.577C>T (p.Arg193Cys)
|
rs568433214
|
0.00001
|
NM_012210.4(TRIM32):c.625T>C (p.Ser209Pro)
|
rs370534929
|
0.00001
|
NM_012210.4(TRIM32):c.650A>G (p.Asn217Ser)
|
rs374248541
|
0.00001
|
NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter)
|
rs398124253
|
0.00001
|
NM_012210.4(TRIM32):c.678C>T (p.Tyr226=)
|
rs398124253
|
0.00001
|
NM_012210.4(TRIM32):c.681G>A (p.Leu227=)
|
rs779933628
|
0.00001
|
NM_012210.4(TRIM32):c.688A>G (p.Ile230Val)
|
rs139113969
|
0.00001
|
NM_012210.4(TRIM32):c.691del (p.Ala231fs)
|
rs747685252
|
0.00001
|
NM_012210.4(TRIM32):c.69C>T (p.Cys23=)
|
rs575633576
|
0.00001
|
NM_012210.4(TRIM32):c.756A>G (p.Ala252=)
|
rs1307339518
|
0.00001
|
NM_012210.4(TRIM32):c.762G>A (p.Leu254=)
|
rs747057835
|
0.00001
|
NM_012210.4(TRIM32):c.781G>A (p.Glu261Lys)
|
rs781333763
|
0.00001
|
NM_012210.4(TRIM32):c.795C>G (p.Leu265=)
|
rs756049046
|
0.00001
|
NM_012210.4(TRIM32):c.809C>G (p.Pro270Arg)
|
rs1861004120
|
0.00001
|
NM_012210.4(TRIM32):c.823C>T (p.Leu275=)
|
rs555915611
|
0.00001
|
NM_012210.4(TRIM32):c.858T>C (p.Val286=)
|
rs762342489
|
0.00001
|
NM_012210.4(TRIM32):c.889A>G (p.Lys297Glu)
|
rs759742371
|
0.00001
|
NM_012210.4(TRIM32):c.899C>T (p.Thr300Ile)
|
rs1010496243
|
0.00001
|
NM_012210.4(TRIM32):c.90G>A (p.Glu30=)
|
rs534259071
|
0.00001
|
NM_012210.4(TRIM32):c.938C>T (p.Ala313Val)
|
rs794727284
|
0.00001
|
NM_012210.4(TRIM32):c.948C>T (p.Ala316=)
|
rs1351064837
|
0.00001
|
NM_012210.4(TRIM32):c.97C>T (p.Arg33Cys)
|
rs778141507
|
0.00001
|
NM_012210.4(TRIM32):c.99T>C (p.Arg33=)
|
rs1057202035
|
0.00001
|
NM_015910.7(WDPCP):c.1018G>T (p.Ala340Ser)
|
rs779714128
|
0.00001
|
NM_015910.7(WDPCP):c.1049A>G (p.Asp350Gly)
|
rs1469275937
|
0.00001
|
NM_015910.7(WDPCP):c.1095A>G (p.Glu365=)
|
rs1475351110
|
0.00001
|
NM_015910.7(WDPCP):c.1101C>A (p.His367Gln)
|
rs904401906
|
0.00001
|
NM_015910.7(WDPCP):c.1101C>T (p.His367=)
|
rs904401906
|
0.00001
|
NM_015910.7(WDPCP):c.1176G>C (p.Leu392=)
|
rs751487031
|
0.00001
|
NM_015910.7(WDPCP):c.1186A>C (p.Ser396Arg)
|
rs936904170
|
0.00001
|
NM_015910.7(WDPCP):c.1201T>G (p.Leu401Val)
|
rs1040913823
|
0.00001
|
NM_015910.7(WDPCP):c.1206A>T (p.Gln402His)
|
rs1441739882
|
0.00001
|
NM_015910.7(WDPCP):c.1242A>G (p.Gln414=)
|
rs774367862
|
0.00001
|
NM_015910.7(WDPCP):c.1258C>T (p.Arg420Cys)
|
rs769165669
|
0.00001
|
NM_015910.7(WDPCP):c.1259G>A (p.Arg420His)
|
rs749726622
|
0.00001
|
NM_015910.7(WDPCP):c.1267A>G (p.Arg423Gly)
|
rs745555236
|
0.00001
|
NM_015910.7(WDPCP):c.1291T>G (p.Leu431Val)
|
rs746549040
|
0.00001
|
NM_015910.7(WDPCP):c.1296T>C (p.Phe432=)
|
rs752670896
|
0.00001
|
NM_015910.7(WDPCP):c.1331T>G (p.Ile444Arg)
|
rs373940251
|
0.00001
|
NM_015910.7(WDPCP):c.1436-18T>G
|
rs1481284633
|
0.00001
|
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)
|
rs544657165
|
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.1505A>G (p.Tyr502Cys)
|
rs559295906
|
0.00001
|
NM_015910.7(WDPCP):c.1511C>T (p.Ala504Val)
|
rs1462636982
|
0.00001
|
NM_015910.7(WDPCP):c.1546C>G (p.Leu516Val)
|
rs766821661
|
0.00001
|
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr)
|
rs534102944
|
0.00001
|
NM_015910.7(WDPCP):c.1587C>T (p.Asn529=)
|
rs763698807
|
0.00001
|
NM_015910.7(WDPCP):c.1606C>G (p.Leu536Val)
|
rs955196377
|
0.00001
|
NM_015910.7(WDPCP):c.161-11C>T
|
rs1186873665
|
0.00001
|
NM_015910.7(WDPCP):c.161-14C>T
|
rs755586280
|
0.00001
|
NM_015910.7(WDPCP):c.161-4A>G
|
rs745808806
|
0.00001
|
NM_015910.7(WDPCP):c.166G>C (p.Asp56His)
|
rs375016562
|
0.00001
|
NM_015910.7(WDPCP):c.1670C>T (p.Pro557Leu)
|
rs760413825
|
0.00001
|
NM_015910.7(WDPCP):c.1687A>G (p.Ile563Val)
|
rs1168632851
|
0.00001
|
NM_015910.7(WDPCP):c.1705C>G (p.Gln569Glu)
|
rs1026359002
|
0.00001
|
NM_015910.7(WDPCP):c.170T>C (p.Ile57Thr)
|
rs757037739
|
0.00001
|
NM_015910.7(WDPCP):c.1730T>G (p.Phe577Cys)
|
rs1439554090
|
0.00001
|
NM_015910.7(WDPCP):c.1798C>T (p.Arg600Cys)
|
rs747517141
|
0.00001
|
NM_015910.7(WDPCP):c.1916-14A>T
|
rs1198215632
|
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.1982C>T (p.Pro661Leu)
|
rs572858289
|
0.00001
|
NM_015910.7(WDPCP):c.198A>G (p.Lys66=)
|
rs1259050276
|
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.2078+13G>T
|
rs771461774
|
0.00001
|
NM_015910.7(WDPCP):c.209-20C>T
|
rs754079771
|
0.00001
|
NM_015910.7(WDPCP):c.2100T>C (p.Asn700=)
|
rs750072605
|
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.2147G>A (p.Cys716Tyr)
|
rs772286167
|
0.00001
|
NM_015910.7(WDPCP):c.2149A>C (p.Asn717His)
|
rs748189167
|
0.00001
|
NM_015910.7(WDPCP):c.2159-14A>G
|
rs748390681
|
0.00001
|
NM_015910.7(WDPCP):c.2169G>C (p.Leu723=)
|
rs746225322
|
0.00001
|
NM_015910.7(WDPCP):c.2173G>A (p.Glu725Lys)
|
rs1370629959
|
0.00001
|
NM_015910.7(WDPCP):c.2190+1G>A
|
rs1671980611
|
0.00001
|
NM_015910.7(WDPCP):c.2190+8A>G
|
rs1303386488
|
0.00001
|
NM_015910.7(WDPCP):c.2191-4G>T
|
rs1044455747
|
0.00001
|
NM_015910.7(WDPCP):c.21G>C (p.Trp7Cys)
|
rs1200911623
|
0.00001
|
NM_015910.7(WDPCP):c.243G>T (p.Lys81Asn)
|
rs1206045016
|
0.00001
|
NM_015910.7(WDPCP):c.24C>G (p.Asp8Glu)
|
rs548483405
|
0.00001
|
NM_015910.7(WDPCP):c.253T>G (p.Ser85Ala)
|
rs866240226
|
0.00001
|
NM_015910.7(WDPCP):c.255A>G (p.Ser85=)
|
rs1252079324
|
0.00001
|
NM_015910.7(WDPCP):c.270G>T (p.Trp90Cys)
|
rs758930140
|
0.00001
|
NM_015910.7(WDPCP):c.282C>T (p.Asn94=)
|
rs1700479284
|
0.00001
|
NM_015910.7(WDPCP):c.301C>T (p.Arg101Ter)
|
rs772536466
|
0.00001
|
NM_015910.7(WDPCP):c.302G>A (p.Arg101Gln)
|
rs746158542
|
0.00001
|
NM_015910.7(WDPCP):c.304G>C (p.Asp102His)
|
rs757449444
|
0.00001
|
NM_015910.7(WDPCP):c.308C>T (p.Ser103Leu)
|
rs376758858
|
0.00001
|
NM_015910.7(WDPCP):c.309G>A (p.Ser103=)
|
rs758983279
|
0.00001
|
NM_015910.7(WDPCP):c.30C>T (p.Tyr10=)
|
rs1248204391
|
0.00001
|
NM_015910.7(WDPCP):c.315A>G (p.Lys105=)
|
rs936160193
|
0.00001
|
NM_015910.7(WDPCP):c.316G>C (p.Glu106Gln)
|
rs1444169850
|
0.00001
|
NM_015910.7(WDPCP):c.325-17T>C
|
rs542348306
|
0.00001
|
NM_015910.7(WDPCP):c.332T>C (p.Met111Thr)
|
rs1392647874
|
0.00001
|
NM_015910.7(WDPCP):c.385-8G>A
|
rs1277892197
|
0.00001
|
NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe)
|
rs756891717
|
0.00001
|
NM_015910.7(WDPCP):c.424T>C (p.Ser142Pro)
|
rs529607482
|
0.00001
|
NM_015910.7(WDPCP):c.451A>C (p.Ile151Leu)
|
rs776529473
|
0.00001
|
NM_015910.7(WDPCP):c.45G>C (p.Gly15=)
|
rs1003414023
|
0.00001
|
NM_015910.7(WDPCP):c.46A>C (p.Ser16Arg)
|
rs952535961
|
0.00001
|
NM_015910.7(WDPCP):c.56C>T (p.Ser19Phe)
|
rs781606829
|
0.00001
|
NM_015910.7(WDPCP):c.581A>G (p.Glu194Gly)
|
rs750252971
|
0.00001
|
NM_015910.7(WDPCP):c.606G>A (p.Leu202=)
|
rs1400511137
|
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.705T>C (p.His235=)
|
rs1281696709
|
0.00001
|
NM_015910.7(WDPCP):c.75+14C>G
|
rs544261053
|
0.00001
|
NM_015910.7(WDPCP):c.757G>A (p.Ala253Thr)
|
rs531251663
|
0.00001
|
NM_015910.7(WDPCP):c.805T>C (p.Tyr269His)
|
rs1374748295
|
0.00001
|
NM_015910.7(WDPCP):c.856C>T (p.Pro286Ser)
|
rs367653779
|
0.00001
|
NM_015910.7(WDPCP):c.940G>A (p.Ala314Thr)
|
rs1694413400
|
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_015910.7(WDPCP):c.968G>A (p.Arg323Gln)
|
rs991936622
|
0.00001
|
NM_024649.5(BBS1):c.1006C>T (p.Leu336=)
|
rs765494351
|
0.00001
|
NM_024649.5(BBS1):c.104A>G (p.His35Arg)
|
rs775990952
|
0.00001
|
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp)
|
rs747656068
|
0.00001
|
NM_024649.5(BBS1):c.1066C>T (p.Arg356Cys)
|
rs747459381
|
0.00001
|
NM_024649.5(BBS1):c.10G>T (p.Ala4Ser)
|
rs745375133
|
0.00001
|
NM_024649.5(BBS1):c.1111-12G>A
|
rs774638549
|
0.00001
|
NM_024649.5(BBS1):c.1111-2A>G
|
rs761969357
|
0.00001
|
NM_024649.5(BBS1):c.1116A>G (p.Ala372=)
|
rs1335578252
|
0.00001
|
NM_024649.5(BBS1):c.1143C>T (p.Tyr381=)
|
rs1021331909
|
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.1181-14G>C
|
rs747049051
|
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.1197C>T (p.Ile399=)
|
rs774005906
|
0.00001
|
NM_024649.5(BBS1):c.125-11T>C
|
rs762092708
|
0.00001
|
NM_024649.5(BBS1):c.125-9G>A
|
rs759208852
|
0.00001
|
NM_024649.5(BBS1):c.1253C>T (p.Pro418Leu)
|
rs1410252393
|
0.00001
|
NM_024649.5(BBS1):c.1266C>T (p.Ala422=)
|
rs775519437
|
0.00001
|
NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp)
|
rs767247916
|
0.00001
|
NM_024649.5(BBS1):c.1302C>T (p.Tyr434=)
|
rs1417786271
|
0.00001
|
NM_024649.5(BBS1):c.1303G>A (p.Val435Met)
|
rs1181760871
|
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.1339+16G>A
|
rs1347358462
|
0.00001
|
NM_024649.5(BBS1):c.1341C>T (p.Ala447=)
|
rs934613283
|
0.00001
|
NM_024649.5(BBS1):c.1383A>G (p.Leu461=)
|
rs557739576
|
0.00001
|
NM_024649.5(BBS1):c.138A>G (p.Leu46=)
|
rs1590754166
|
0.00001
|
NM_024649.5(BBS1):c.1392C>T (p.Ala464=)
|
rs1178616571
|
0.00001
|
NM_024649.5(BBS1):c.1395C>T (p.Arg465=)
|
rs756550025
|
0.00001
|
NM_024649.5(BBS1):c.1396G>A (p.Ala466Thr)
|
rs1271245314
|
0.00001
|
NM_024649.5(BBS1):c.1437C>T (p.Ser479=)
|
rs1856697260
|
0.00001
|
NM_024649.5(BBS1):c.1440G>A (p.Thr480=)
|
rs751466006
|
0.00001
|
NM_024649.5(BBS1):c.1442C>T (p.Thr481Ile)
|
rs757132669
|
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.1473+4A>G
|
rs1486200900
|
0.00001
|
NM_024649.5(BBS1):c.1487G>A (p.Gly496Asp)
|
rs1306126953
|
0.00001
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
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.1572C>T (p.Asn524=)
|
rs757866253
|
0.00001
|
NM_024649.5(BBS1):c.1578G>A (p.Ala526=)
|
rs373397428
|
0.00001
|
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu)
|
rs766602837
|
0.00001
|
NM_024649.5(BBS1):c.159G>A (p.Lys53=)
|
rs1262106058
|
0.00001
|
NM_024649.5(BBS1):c.1615T>C (p.Leu539=)
|
rs1727051374
|
0.00001
|
NM_024649.5(BBS1):c.1626A>G (p.Pro542=)
|
rs780444865
|
0.00001
|
NM_024649.5(BBS1):c.1640C>A (p.Pro547His)
|
rs774636593
|
0.00001
|
NM_024649.5(BBS1):c.1671C>T (p.Asn557=)
|
rs1179878578
|
0.00001
|
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp)
|
rs544767888
|
0.00001
|
NM_024649.5(BBS1):c.1687A>G (p.Ile563Val)
|
rs374048871
|
0.00001
|
NM_024649.5(BBS1):c.1696-9C>T
|
rs1363840770
|
0.00001
|
NM_024649.5(BBS1):c.1714G>A (p.Gly572Ser)
|
rs758544060
|
0.00001
|
NM_024649.5(BBS1):c.1743C>T (p.His581=)
|
rs61890368
|
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.184G>C (p.Gly62Arg)
|
rs763878620
|
0.00001
|
NM_024649.5(BBS1):c.18A>G (p.Ser6=)
|
rs758441011
|
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.32C>T (p.Ala11Val)
|
rs150122944
|
0.00001
|
NM_024649.5(BBS1):c.338A>T (p.Tyr113Phe)
|
rs753517084
|
0.00001
|
NM_024649.5(BBS1):c.339T>C (p.Tyr113=)
|
rs754412005
|
0.00001
|
NM_024649.5(BBS1):c.33C>A (p.Ala11=)
|
rs1336755113
|
0.00001
|
NM_024649.5(BBS1):c.381C>T (p.Pro127=)
|
rs1317121045
|
0.00001
|
NM_024649.5(BBS1):c.384A>G (p.Gln128=)
|
rs149442804
|
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.433-20C>G
|
rs186822905
|
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.445C>T (p.Pro149Ser)
|
rs762511224
|
0.00001
|
NM_024649.5(BBS1):c.447C>T (p.Pro149=)
|
rs763738657
|
0.00001
|
NM_024649.5(BBS1):c.464T>C (p.Met155Thr)
|
rs879524751
|
0.00001
|
NM_024649.5(BBS1):c.48-2A>C
|
rs764245266
|
0.00001
|
NM_024649.5(BBS1):c.48-4C>G
|
rs763314002
|
0.00001
|
NM_024649.5(BBS1):c.483G>A (p.Glu161=)
|
rs745832920
|
0.00001
|
NM_024649.5(BBS1):c.48C>T (p.Ser16=)
|
rs200255383
|
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.533A>G (p.Glu178Gly)
|
rs1454643152
|
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.591+8C>T
|
rs1043360776
|
0.00001
|
NM_024649.5(BBS1):c.592-18C>A
|
rs1382520569
|
0.00001
|
NM_024649.5(BBS1):c.592-7T>C
|
rs1377616978
|
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.699C>T (p.Pro233=)
|
rs777250313
|
0.00001
|
NM_024649.5(BBS1):c.708C>G (p.Phe236Leu)
|
rs1482951221
|
0.00001
|
NM_024649.5(BBS1):c.70T>C (p.Leu24=)
|
rs747891096
|
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.771T>C (p.Phe257=)
|
rs367686869
|
0.00001
|
NM_024649.5(BBS1):c.772G>C (p.Asp258His)
|
rs779297419
|
0.00001
|
NM_024649.5(BBS1):c.792C>T (p.Ala264=)
|
rs770901594
|
0.00001
|
NM_024649.5(BBS1):c.795G>A (p.Ala265=)
|
rs550508776
|
0.00001
|
NM_024649.5(BBS1):c.798C>G (p.Ala266=)
|
rs1408073931
|
0.00001
|
NM_024649.5(BBS1):c.818A>G (p.Tyr273Cys)
|
rs765732035
|
0.00001
|
NM_024649.5(BBS1):c.830G>A (p.Arg277Lys)
|
rs1856209517
|
0.00001
|
NM_024649.5(BBS1):c.849G>A (p.Lys283=)
|
rs1208056864
|
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.890G>A (p.Arg297Gln)
|
rs372092113
|
0.00001
|
NM_024649.5(BBS1):c.931C>T (p.Leu311=)
|
rs1256532742
|
0.00001
|
NM_024649.5(BBS1):c.948C>T (p.His316=)
|
rs777721856
|
0.00001
|
NM_024649.5(BBS1):c.951+10C>T
|
rs745672331
|
0.00001
|
NM_024649.5(BBS1):c.952-19G>A
|
rs200350565
|
0.00001
|
NM_024649.5(BBS1):c.952-1G>A
|
rs1057516661
|
0.00001
|
NM_024649.5(BBS1):c.952-20C>T
|
rs1189838889
|
0.00001
|
NM_024685.4(BBS10):c.1088C>T (p.Pro363Leu)
|
rs938066133
|
0.00001
|
NM_024685.4(BBS10):c.1123A>T (p.Ile375Phe)
|
rs1289641509
|
0.00001
|
NM_024685.4(BBS10):c.1134C>T (p.Ser378=)
|
rs764371181
|
0.00001
|
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe)
|
rs775492103
|
0.00001
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573
|
0.00001
|
NM_024685.4(BBS10):c.1197T>C (p.Leu399=)
|
rs974452621
|
0.00001
|
NM_024685.4(BBS10):c.1198T>C (p.Cys400Arg)
|
rs1951762407
|
0.00001
|
NM_024685.4(BBS10):c.1211A>G (p.His404Arg)
|
rs964776134
|
0.00001
|
NM_024685.4(BBS10):c.1218C>G (p.Leu406=)
|
rs758194221
|
0.00001
|
NM_024685.4(BBS10):c.1234G>C (p.Asp412His)
|
rs1413288461
|
0.00001
|
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)
|
rs786204575
|
0.00001
|
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val)
|
rs1460652135
|
0.00001
|
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly)
|
rs933207351
|
0.00001
|
NM_024685.4(BBS10):c.1401G>A (p.Arg467=)
|
rs1951760279
|
0.00001
|
NM_024685.4(BBS10):c.1416A>G (p.Thr472=)
|
rs1345667368
|
0.00001
|
NM_024685.4(BBS10):c.144C>T (p.Ser48=)
|
rs1354665984
|
0.00001
|
NM_024685.4(BBS10):c.1477T>C (p.Leu493=)
|
rs543722869
|
0.00001
|
NM_024685.4(BBS10):c.1506A>G (p.Thr502=)
|
rs201022680
|
0.00001
|
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn)
|
rs750994616
|
0.00001
|
NM_024685.4(BBS10):c.1588A>G (p.Arg530Gly)
|
rs1951758303
|
0.00001
|
NM_024685.4(BBS10):c.1593C>T (p.Asn531=)
|
rs780123311
|
0.00001
|
NM_024685.4(BBS10):c.1628A>G (p.Asn543Ser)
|
rs1444034224
|
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.1776A>G (p.Ser592=)
|
rs549089224
|
0.00001
|
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)
|
rs778431173
|
0.00001
|
NM_024685.4(BBS10):c.1839T>A (p.Tyr613Ter)
|
rs1951755742
|
0.00001
|
NM_024685.4(BBS10):c.1866T>C (p.His622=)
|
rs1167846126
|
0.00001
|
NM_024685.4(BBS10):c.190A>G (p.Ile64Val)
|
rs755814743
|
0.00001
|
NM_024685.4(BBS10):c.1918A>G (p.Ile640Val)
|
rs748647079
|
0.00001
|
NM_024685.4(BBS10):c.1959C>T (p.Ser653=)
|
rs764088306
|
0.00001
|
NM_024685.4(BBS10):c.196A>G (p.Arg66Gly)
|
rs780874811
|
0.00001
|
NM_024685.4(BBS10):c.197+5C>T
|
rs754503828
|
0.00001
|
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=)
|
rs376613074
|
0.00001
|
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)
|
rs771355732
|
0.00001
|
NM_024685.4(BBS10):c.1978A>C (p.Arg660=)
|
rs145838463
|
0.00001
|
NM_024685.4(BBS10):c.198-4A>G
|
rs1292242567
|
0.00001
|
NM_024685.4(BBS10):c.1992A>G (p.Ala664=)
|
rs758730453
|
0.00001
|
NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys)
|
rs778614911
|
0.00001
|
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp)
|
rs756069503
|
0.00001
|
NM_024685.4(BBS10):c.206T>A (p.Val69Glu)
|
rs1176176320
|
0.00001
|
NM_024685.4(BBS10):c.2070A>G (p.Ser690=)
|
rs750972045
|
0.00001
|
NM_024685.4(BBS10):c.2132C>T (p.Pro711Leu)
|
rs202134724
|
0.00001
|
NM_024685.4(BBS10):c.2142T>G (p.Val714=)
|
rs1463359253
|
0.00001
|
NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter)
|
rs959224608
|
0.00001
|
NM_024685.4(BBS10):c.2166A>G (p.Glu722=)
|
rs747553162
|
0.00001
|
NM_024685.4(BBS10):c.2169A>G (p.Leu723=)
|
rs1395342080
|
0.00001
|
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe)
|
rs767638924
|
0.00001
|
NM_024685.4(BBS10):c.235A>G (p.Thr79Ala)
|
rs899733320
|
0.00001
|
NM_024685.4(BBS10):c.237A>G (p.Thr79=)
|
rs774437650
|
0.00001
|
NM_024685.4(BBS10):c.270T>G (p.Leu90=)
|
rs200390697
|
0.00001
|
NM_024685.4(BBS10):c.292C>A (p.His98Asn)
|
rs748465517
|
0.00001
|
NM_024685.4(BBS10):c.327G>A (p.Met109Ile)
|
rs1051916652
|
0.00001
|
NM_024685.4(BBS10):c.337A>G (p.Ile113Val)
|
rs969686018
|
0.00001
|
NM_024685.4(BBS10):c.340del (p.Gln114fs)
|
rs1191479533
|
0.00001
|
NM_024685.4(BBS10):c.343A>G (p.Thr115Ala)
|
rs147432159
|
0.00001
|
NM_024685.4(BBS10):c.344C>T (p.Thr115Ile)
|
rs1254886838
|
0.00001
|
NM_024685.4(BBS10):c.380A>G (p.Lys127Arg)
|
rs936655028
|
0.00001
|
NM_024685.4(BBS10):c.389C>T (p.Ser130Phe)
|
rs766572403
|
0.00001
|
NM_024685.4(BBS10):c.393G>A (p.Gln131=)
|
rs369066076
|
0.00001
|
NM_024685.4(BBS10):c.397C>G (p.Leu133Val)
|
rs750446869
|
0.00001
|
NM_024685.4(BBS10):c.411G>T (p.Gln137His)
|
rs775342373
|
0.00001
|
NM_024685.4(BBS10):c.434T>C (p.Met145Thr)
|
rs144312522
|
0.00001
|
NM_024685.4(BBS10):c.450T>C (p.Ser150=)
|
rs573346325
|
0.00001
|
NM_024685.4(BBS10):c.483A>G (p.Lys161=)
|
rs748732850
|
0.00001
|
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)
|
rs1555202697
|
0.00001
|
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly)
|
rs775747309
|
0.00001
|
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala)
|
rs753138845
|
0.00001
|
NM_024685.4(BBS10):c.630A>T (p.Val210=)
|
rs759791957
|
0.00001
|
NM_024685.4(BBS10):c.653T>A (p.Phe218Tyr)
|
rs1316090880
|
0.00001
|
NM_024685.4(BBS10):c.661T>C (p.Leu221=)
|
rs768544411
|
0.00001
|
NM_024685.4(BBS10):c.681C>T (p.Gly227=)
|
rs886049851
|
0.00001
|
NM_024685.4(BBS10):c.691T>C (p.Ser231Pro)
|
rs777951931
|
0.00001
|
NM_024685.4(BBS10):c.6A>G (p.Leu2=)
|
rs1333383849
|
0.00001
|
NM_024685.4(BBS10):c.753A>G (p.Ala251=)
|
rs766065990
|
0.00001
|
NM_024685.4(BBS10):c.763A>G (p.Met255Val)
|
rs772739860
|
0.00001
|
NM_024685.4(BBS10):c.783A>G (p.Thr261=)
|
rs768475584
|
0.00001
|
NM_024685.4(BBS10):c.7A>C (p.Ser3Arg)
|
rs1396450993
|
0.00001
|
NM_024685.4(BBS10):c.840A>G (p.Glu280=)
|
rs751973161
|
0.00001
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly)
|
rs759385121
|
0.00001
|
NM_024685.4(BBS10):c.942A>G (p.Lys314=)
|
rs748249273
|
0.00001
|
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu)
|
rs1000990130
|
0.00001
|
NM_024685.4(BBS10):c.996G>A (p.Glu332=)
|
rs756848031
|
0.00001
|
NM_031885.5(BBS2):c.1011G>A (p.Leu337=)
|
rs767239768
|
0.00001
|
NM_031885.5(BBS2):c.1020G>A (p.Glu340=)
|
rs987125306
|
0.00001
|
NM_031885.5(BBS2):c.1080+2T>C
|
rs771554923
|
0.00001
|
NM_031885.5(BBS2):c.1080+7G>A
|
rs1161249297
|
0.00001
|
NM_031885.5(BBS2):c.1092C>A (p.Ala364=)
|
rs1394766615
|
0.00001
|
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)
|
rs185178790
|
0.00001
|
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser)
|
rs773720173
|
0.00001
|
NM_031885.5(BBS2):c.1155C>G (p.Thr385=)
|
rs749121755
|
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.117+1G>A
|
rs1964866367
|
0.00001
|
NM_031885.5(BBS2):c.117+5C>T
|
rs1460934723
|
0.00001
|
NM_031885.5(BBS2):c.117G>A (p.Lys39=)
|
rs755877218
|
0.00001
|
NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser)
|
rs368138622
|
0.00001
|
NM_031885.5(BBS2):c.1209C>T (p.Arg403=)
|
rs747086491
|
0.00001
|
NM_031885.5(BBS2):c.1225+16C>T
|
rs774382271
|
0.00001
|
NM_031885.5(BBS2):c.1225+19C>T
|
rs564848200
|
0.00001
|
NM_031885.5(BBS2):c.1226-11C>T
|
rs371851180
|
0.00001
|
NM_031885.5(BBS2):c.1233C>T (p.Ile411=)
|
rs1179390065
|
0.00001
|
NM_031885.5(BBS2):c.1240G>A (p.Ala414Thr)
|
rs375585469
|
0.00001
|
NM_031885.5(BBS2):c.1257A>G (p.Ala419=)
|
rs747607168
|
0.00001
|
NM_031885.5(BBS2):c.1267T>C (p.Phe423Leu)
|
rs754625376
|
0.00001
|
NM_031885.5(BBS2):c.1297A>G (p.Ser433Gly)
|
rs752065274
|
0.00001
|
NM_031885.5(BBS2):c.1314C>T (p.Ser438=)
|
rs1204179948
|
0.00001
|
NM_031885.5(BBS2):c.1323C>T (p.Ile441=)
|
rs759783261
|
0.00001
|
NM_031885.5(BBS2):c.1326C>T (p.Cys442=)
|
rs1478971000
|
0.00001
|
NM_031885.5(BBS2):c.1329C>T (p.Ile443=)
|
rs1244466598
|
0.00001
|
NM_031885.5(BBS2):c.1398-2A>G
|
rs767609303
|
0.00001
|
NM_031885.5(BBS2):c.1437T>C (p.Pro479=)
|
rs747415803
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln)
|
rs772380071
|
0.00001
|
NM_031885.5(BBS2):c.143G>A (p.Arg48Gln)
|
rs775577429
|
0.00001
|
NM_031885.5(BBS2):c.1486A>G (p.Ile496Val)
|
rs549070573
|
0.00001
|
NM_031885.5(BBS2):c.1530T>G (p.Val510=)
|
rs545597883
|
0.00001
|
NM_031885.5(BBS2):c.1542C>T (p.Leu514=)
|
rs374156464
|
0.00001
|
NM_031885.5(BBS2):c.1554T>C (p.Phe518=)
|
rs1258350117
|
0.00001
|
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val)
|
rs374028829
|
0.00001
|
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg)
|
rs1250423040
|
0.00001
|
NM_031885.5(BBS2):c.1601G>A (p.Cys534Tyr)
|
rs1964174593
|
0.00001
|
NM_031885.5(BBS2):c.1602T>G (p.Cys534Trp)
|
rs747228782
|
0.00001
|
NM_031885.5(BBS2):c.1608A>G (p.Thr536=)
|
rs778892001
|
0.00001
|
NM_031885.5(BBS2):c.1653T>C (p.Ser551=)
|
rs1164036055
|
0.00001
|
NM_031885.5(BBS2):c.1659+7T>C
|
rs1964172250
|
0.00001
|
NM_031885.5(BBS2):c.1660-10C>T
|
rs1343645233
|
0.00001
|
NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile)
|
rs370581600
|
0.00001
|
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser)
|
rs1288834218
|
0.00001
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
0.00001
|
NM_031885.5(BBS2):c.1777T>C (p.Leu593=)
|
rs767778599
|
0.00001
|
NM_031885.5(BBS2):c.1798-8G>T
|
rs370273510
|
0.00001
|
NM_031885.5(BBS2):c.1804G>A (p.Glu602Lys)
|
rs1199835895
|
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.184C>G (p.Leu62Val)
|
rs201860939
|
0.00001
|
NM_031885.5(BBS2):c.1852T>G (p.Ser618Ala)
|
rs1964133123
|
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.1911-10A>T
|
rs747869137
|
0.00001
|
NM_031885.5(BBS2):c.1932T>C (p.Tyr644=)
|
rs1044072013
|
0.00001
|
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs)
|
rs745951028
|
0.00001
|
NM_031885.5(BBS2):c.194A>T (p.Asp65Val)
|
rs746643609
|
0.00001
|
NM_031885.5(BBS2):c.1981C>T (p.Arg661Cys)
|
rs766476238
|
0.00001
|
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)
|
rs1597001788
|
0.00001
|
NM_031885.5(BBS2):c.1989C>T (p.Asn663=)
|
rs373278876
|
0.00001
|
NM_031885.5(BBS2):c.1991A>G (p.Asn664Ser)
|
rs1963755946
|
0.00001
|
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln)
|
rs1476749003
|
0.00001
|
NM_031885.5(BBS2):c.2059+7C>G
|
rs113740983
|
0.00001
|
NM_031885.5(BBS2):c.2060-5T>C
|
rs374531370
|
0.00001
|
NM_031885.5(BBS2):c.2087C>T (p.Thr696Ile)
|
rs780369177
|
0.00001
|
NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp)
|
rs1003841433
|
0.00001
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
NM_031885.5(BBS2):c.2152del (p.Thr718fs)
|
rs1156738620
|
0.00001
|
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)
|
rs750506474
|
0.00001
|
NM_031885.5(BBS2):c.273C>A (p.Ala91=)
|
rs1181643265
|
0.00001
|
NM_031885.5(BBS2):c.30G>A (p.Leu10=)
|
rs1258834563
|
0.00001
|
NM_031885.5(BBS2):c.327G>A (p.Ser109=)
|
rs770497817
|
0.00001
|
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu)
|
rs772864503
|
0.00001
|
NM_031885.5(BBS2):c.345+5G>A
|
rs1430976492
|
0.00001
|
NM_031885.5(BBS2):c.400C>T (p.Pro134Ser)
|
rs1275057392
|
0.00001
|
NM_031885.5(BBS2):c.408G>A (p.Ala136=)
|
rs771554929
|
0.00001
|
NM_031885.5(BBS2):c.425G>A (p.Cys142Tyr)
|
rs1348932407
|
0.00001
|
NM_031885.5(BBS2):c.42C>T (p.Ile14=)
|
rs764339260
|
0.00001
|
NM_031885.5(BBS2):c.471G>A (p.Thr157=)
|
rs749983428
|
0.00001
|
NM_031885.5(BBS2):c.483C>T (p.Asp161=)
|
rs375074141
|
0.00001
|
NM_031885.5(BBS2):c.504del (p.Leu168fs)
|
rs1224014742
|
0.00001
|
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)
|
rs767373822
|
0.00001
|
NM_031885.5(BBS2):c.534+13G>A
|
rs748319105
|
0.00001
|
NM_031885.5(BBS2):c.534+7G>C
|
rs886052149
|
0.00001
|
NM_031885.5(BBS2):c.535-7C>T
|
rs761135398
|
0.00001
|
NM_031885.5(BBS2):c.558T>C (p.Phe186=)
|
rs768109068
|
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.581A>G (p.Asp194Gly)
|
rs1325859248
|
0.00001
|
NM_031885.5(BBS2):c.603A>C (p.Thr201=)
|
rs768647514
|
0.00001
|
NM_031885.5(BBS2):c.612+10T>C
|
rs113091063
|
0.00001
|
NM_031885.5(BBS2):c.612+14C>G
|
rs770986334
|
0.00001
|
NM_031885.5(BBS2):c.612+1G>T
|
rs1964531402
|
0.00001
|
NM_031885.5(BBS2):c.619A>G (p.Thr207Ala)
|
rs1183364786
|
0.00001
|
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)
|
rs121908180
|
0.00001
|
NM_031885.5(BBS2):c.66G>T (p.Gly22=)
|
rs1348539618
|
0.00001
|
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)
|
rs779690256
|
0.00001
|
NM_031885.5(BBS2):c.717+16C>T
|
rs752825833
|
0.00001
|
NM_031885.5(BBS2):c.717+1G>A
|
rs1047075022
|
0.00001
|
NM_031885.5(BBS2):c.717+5G>A
|
rs1567579212
|
0.00001
|
NM_031885.5(BBS2):c.718-3C>T
|
rs779134746
|
0.00001
|
NM_031885.5(BBS2):c.720G>A (p.Ser240=)
|
rs758715963
|
0.00001
|
NM_031885.5(BBS2):c.783A>C (p.Ile261=)
|
rs183982328
|
0.00001
|
NM_031885.5(BBS2):c.78G>A (p.Gly26=)
|
rs759629466
|
0.00001
|
NM_031885.5(BBS2):c.810T>C (p.Asp270=)
|
rs1309546092
|
0.00001
|
NM_031885.5(BBS2):c.873T>A (p.Gly291=)
|
rs1298944249
|
0.00001
|
NM_031885.5(BBS2):c.888T>C (p.Asp296=)
|
rs762618442
|
0.00001
|
NM_031885.5(BBS2):c.940+1del
|
rs746171104
|
0.00001
|
NM_031885.5(BBS2):c.941-20G>A
|
rs760109919
|
0.00001
|
NM_031885.5(BBS2):c.945G>A (p.Arg315=)
|
rs2288057
|
0.00001
|
NM_031885.5(BBS2):c.963G>A (p.Thr321=)
|
rs748014865
|
0.00001
|
NM_031885.5(BBS2):c.986T>C (p.Met329Thr)
|
rs201146063
|
0.00001
|
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)
|
rs797045155
|
0.00001
|
NM_033028.5(BBS4):c.1029C>T (p.Leu343=)
|
rs1000977139
|
0.00001
|
NM_033028.5(BBS4):c.1072A>C (p.Lys358Gln)
|
rs560253658
|
0.00001
|
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)
|
rs772548770
|
0.00001
|
NM_033028.5(BBS4):c.1107-19G>C
|
rs763043698
|
0.00001
|
NM_033028.5(BBS4):c.1107G>A (p.Lys369=)
|
rs773893992
|
0.00001
|
NM_033028.5(BBS4):c.1172C>T (p.Ala391Val)
|
rs1419955498
|
0.00001
|
NM_033028.5(BBS4):c.1179C>T (p.Ala393=)
|
rs780560947
|
0.00001
|
NM_033028.5(BBS4):c.1182A>G (p.Gln394=)
|
rs771579669
|
0.00001
|
NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro)
|
rs569462424
|
0.00001
|
NM_033028.5(BBS4):c.1248+5G>A
|
rs756449572
|
0.00001
|
NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp)
|
rs914591602
|
0.00001
|
NM_033028.5(BBS4):c.1249-12T>C
|
rs759275107
|
0.00001
|
NM_033028.5(BBS4):c.1289T>C (p.Val430Ala)
|
rs767070801
|
0.00001
|
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala)
|
rs775122250
|
0.00001
|
NM_033028.5(BBS4):c.1319T>A (p.Val440Asp)
|
rs754157578
|
0.00001
|
NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr)
|
rs765715632
|
0.00001
|
NM_033028.5(BBS4):c.1336A>C (p.Lys446Gln)
|
rs201230357
|
0.00001
|
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro)
|
rs749034070
|
0.00001
|
NM_033028.5(BBS4):c.134G>A (p.Arg45Gln)
|
rs1050164962
|
0.00001
|
NM_033028.5(BBS4):c.1394A>G (p.Asn465Ser)
|
rs1214182249
|
0.00001
|
NM_033028.5(BBS4):c.1429G>A (p.Ala477Thr)
|
rs760480986
|
0.00001
|
NM_033028.5(BBS4):c.1450+10T>C
|
rs886042845
|
0.00001
|
NM_033028.5(BBS4):c.14G>C (p.Arg5Thr)
|
rs1307094685
|
0.00001
|
NM_033028.5(BBS4):c.1512G>A (p.Ala504=)
|
rs369958857
|
0.00001
|
NM_033028.5(BBS4):c.179A>G (p.Gln60Arg)
|
rs916245903
|
0.00001
|
NM_033028.5(BBS4):c.187C>T (p.Gln63Ter)
|
rs1338469029
|
0.00001
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
NM_033028.5(BBS4):c.214G>A (p.Val72Ile)
|
rs749578199
|
0.00001
|
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys)
|
rs145168232
|
0.00001
|
NM_033028.5(BBS4):c.23C>T (p.Thr8Met)
|
rs769894375
|
0.00001
|
NM_033028.5(BBS4):c.24+16C>G
|
rs377301298
|
0.00001
|
NM_033028.5(BBS4):c.24+7G>A
|
rs373861071
|
0.00001
|
NM_033028.5(BBS4):c.289A>C (p.Ser97Arg)
|
rs2065449512
|
0.00001
|
NM_033028.5(BBS4):c.2T>C (p.Met1Thr)
|
rs1302879683
|
0.00001
|
NM_033028.5(BBS4):c.315G>T (p.Lys105Asn)
|
rs766485888
|
0.00001
|
NM_033028.5(BBS4):c.31C>G (p.Gln11Glu)
|
rs1040144478
|
0.00001
|
NM_033028.5(BBS4):c.332+8T>C
|
rs1456405256
|
0.00001
|
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr)
|
rs530223854
|
0.00001
|
NM_033028.5(BBS4):c.402T>C (p.Asp134=)
|
rs1567416229
|
0.00001
|
NM_033028.5(BBS4):c.405+10G>C
|
rs1216711857
|
0.00001
|
NM_033028.5(BBS4):c.408G>A (p.Glu136=)
|
rs201881253
|
0.00001
|
NM_033028.5(BBS4):c.420C>T (p.Asn140=)
|
rs763224665
|
0.00001
|
NM_033028.5(BBS4):c.42A>G (p.Val14=)
|
rs113994181
|
0.00001
|
NM_033028.5(BBS4):c.461C>T (p.Ala154Val)
|
rs756744863
|
0.00001
|
NM_033028.5(BBS4):c.469C>G (p.Gln157Glu)
|
rs1177848403
|
0.00001
|
NM_033028.5(BBS4):c.535T>C (p.Leu179=)
|
rs539768891
|
0.00001
|
NM_033028.5(BBS4):c.546A>G (p.Gly182=)
|
rs147218625
|
0.00001
|
NM_033028.5(BBS4):c.588-9A>G
|
rs553655236
|
0.00001
|
NM_033028.5(BBS4):c.593C>T (p.Ser198Leu)
|
rs751076253
|
0.00001
|
NM_033028.5(BBS4):c.595C>T (p.Pro199Ser)
|
rs371598044
|
0.00001
|
NM_033028.5(BBS4):c.5C>T (p.Ala2Val)
|
rs923399180
|
0.00001
|
NM_033028.5(BBS4):c.61C>T (p.Pro21Ser)
|
rs916749492
|
0.00001
|
NM_033028.5(BBS4):c.624A>G (p.Leu208=)
|
rs1318415066
|
0.00001
|
NM_033028.5(BBS4):c.63C>T (p.Pro21=)
|
rs267604309
|
0.00001
|
NM_033028.5(BBS4):c.642+11del
|
rs747510870
|
0.00001
|
NM_033028.5(BBS4):c.65G>A (p.Arg22Gln)
|
rs775955872
|
0.00001
|
NM_033028.5(BBS4):c.684A>C (p.Ala228=)
|
rs35132058
|
0.00001
|
NM_033028.5(BBS4):c.697C>G (p.Pro233Ala)
|
rs569388336
|
0.00001
|
NM_033028.5(BBS4):c.706T>C (p.Tyr236His)
|
rs746172575
|
0.00001
|
NM_033028.5(BBS4):c.708C>T (p.Tyr236=)
|
rs770211437
|
0.00001
|
NM_033028.5(BBS4):c.712-8G>A
|
rs2065815184
|
0.00001
|
NM_033028.5(BBS4):c.714C>T (p.Ala238=)
|
rs756435227
|
0.00001
|
NM_033028.5(BBS4):c.741G>A (p.Gln247=)
|
rs368525772
|
0.00001
|
NM_033028.5(BBS4):c.760G>A (p.Val254Ile)
|
rs532770420
|
0.00001
|
NM_033028.5(BBS4):c.777C>T (p.Tyr259=)
|
rs200469783
|
0.00001
|
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)
|
rs748048479
|
0.00001
|
NM_033028.5(BBS4):c.825C>T (p.Asn275=)
|
rs1439728758
|
0.00001
|
NM_033028.5(BBS4):c.852G>T (p.Lys284Asn)
|
rs12373005
|
0.00001
|
NM_033028.5(BBS4):c.863C>T (p.Ala288Val)
|
rs772051835
|
0.00001
|
NM_033028.5(BBS4):c.864+9C>T
|
rs775416661
|
0.00001
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
NM_033028.5(BBS4):c.884G>A (p.Arg295Gln)
|
rs121434632
|
0.00001
|
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)
|
rs199831925
|
0.00001
|
NM_033028.5(BBS4):c.926A>C (p.Asn309Thr)
|
rs1178593849
|
0.00001
|
NM_033028.5(BBS4):c.987G>A (p.Ala329=)
|
rs1296549307
|
0.00001
|
NM_033028.5(BBS4):c.999C>G (p.Phe333Leu)
|
rs774619624
|
0.00001
|
NM_144596.4(TTC8):c.103C>T (p.Pro35Ser)
|
rs762461640
|
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.1143C>T (p.Thr381=)
|
rs1427115411
|
0.00001
|
NM_144596.4(TTC8):c.1158C>T (p.Ala386=)
|
rs575960949
|
0.00001
|
NM_144596.4(TTC8):c.1171G>C (p.Glu391Gln)
|
rs1253282084
|
0.00001
|
NM_144596.4(TTC8):c.1215T>G (p.His405Gln)
|
rs753212470
|
0.00001
|
NM_144596.4(TTC8):c.1224+19A>G
|
rs1329774650
|
0.00001
|
NM_144596.4(TTC8):c.1257C>T (p.Cys419=)
|
rs1304915093
|
0.00001
|
NM_144596.4(TTC8):c.1277A>T (p.Asn426Ile)
|
rs575952395
|
0.00001
|
NM_144596.4(TTC8):c.1290C>T (p.His430=)
|
rs370238882
|
0.00001
|
NM_144596.4(TTC8):c.1293C>T (p.Ala431=)
|
rs757305114
|
0.00001
|
NM_144596.4(TTC8):c.1335C>T (p.Gly445=)
|
rs770430375
|
0.00001
|
NM_144596.4(TTC8):c.1347+17C>T
|
rs371494539
|
0.00001
|
NM_144596.4(TTC8):c.1352G>A (p.Arg451Lys)
|
rs772498950
|
0.00001
|
NM_144596.4(TTC8):c.1353G>A (p.Arg451=)
|
rs2094951123
|
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.1420A>G (p.Ile474Val)
|
rs1244721977
|
0.00001
|
NM_144596.4(TTC8):c.1432-20T>C
|
rs767425214
|
0.00001
|
NM_144596.4(TTC8):c.145-10T>C
|
rs754997963
|
0.00001
|
NM_144596.4(TTC8):c.1544T>C (p.Leu515Pro)
|
rs2094961758
|
0.00001
|
NM_144596.4(TTC8):c.175A>G (p.Thr59Ala)
|
rs1335402056
|
0.00001
|
NM_144596.4(TTC8):c.22C>T (p.Leu8=)
|
rs139659023
|
0.00001
|
NM_144596.4(TTC8):c.265+1G>A
|
rs139234943
|
0.00001
|
NM_144596.4(TTC8):c.265C>T (p.Arg89Cys)
|
rs747646200
|
0.00001
|
NM_144596.4(TTC8):c.266-5C>G
|
rs982758929
|
0.00001
|
NM_144596.4(TTC8):c.275C>T (p.Thr92Met)
|
rs886050877
|
0.00001
|
NM_144596.4(TTC8):c.298A>G (p.Asn100Asp)
|
rs758294605
|
0.00001
|
NM_144596.4(TTC8):c.329+19T>C
|
rs1052249656
|
0.00001
|
NM_144596.4(TTC8):c.330-18A>C
|
rs750012179
|
0.00001
|
NM_144596.4(TTC8):c.355A>G (p.Ile119Val)
|
rs1188208020
|
0.00001
|
NM_144596.4(TTC8):c.361G>A (p.Gly121Ser)
|
rs771327965
|
0.00001
|
NM_144596.4(TTC8):c.386G>A (p.Ser129Asn)
|
rs761817038
|
0.00001
|
NM_144596.4(TTC8):c.399C>A (p.Gly133=)
|
rs766975286
|
0.00001
|
NM_144596.4(TTC8):c.415A>G (p.Ile139Val)
|
rs766062841
|
0.00001
|
NM_144596.4(TTC8):c.436T>C (p.Tyr146His)
|
rs747125124
|
0.00001
|
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn)
|
rs774233751
|
0.00001
|
NM_144596.4(TTC8):c.462C>T (p.Ser154=)
|
rs766005336
|
0.00001
|
NM_144596.4(TTC8):c.465C>T (p.Ser155=)
|
rs1253468754
|
0.00001
|
NM_144596.4(TTC8):c.534T>C (p.Ser178=)
|
rs200318980
|
0.00001
|
NM_144596.4(TTC8):c.596T>A (p.Ile199Asn)
|
rs753995884
|
0.00001
|
NM_144596.4(TTC8):c.631G>T (p.Asp211Tyr)
|
rs377540438
|
0.00001
|
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr)
|
rs1295139564
|
0.00001
|
NM_144596.4(TTC8):c.711-16A>C
|
rs747396066
|
0.00001
|
NM_144596.4(TTC8):c.744T>G (p.Phe248Leu)
|
rs1411331497
|
0.00001
|
NM_144596.4(TTC8):c.84G>A (p.Thr28=)
|
rs1390636663
|
0.00001
|
NM_144596.4(TTC8):c.885C>T (p.Leu295=)
|
rs1052480994
|
0.00001
|
NM_144596.4(TTC8):c.909G>C (p.Glu303Asp)
|
rs1413362477
|
0.00001
|
NM_144596.4(TTC8):c.915del (p.Met305fs)
|
rs1431207606
|
0.00001
|
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala)
|
rs1220094479
|
0.00001
|
NM_144596.4(TTC8):c.987C>T (p.Ile329=)
|
rs1024139303
|
0.00001
|
NM_152384.3(BBS5):c.133G>A (p.Gly45Arg)
|
rs1244934291
|
0.00001
|
NM_152384.3(BBS5):c.18G>C (p.Ala6=)
|
rs202051938
|
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.214G>A (p.Gly72Ser)
|
rs121908581
|
0.00001
|
NM_152384.3(BBS5):c.24G>A (p.Trp8Ter)
|
rs373396081
|
0.00001
|
NM_152384.3(BBS5):c.259-3C>T
|
rs564412855
|
0.00001
|
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)
|
rs772757329
|
0.00001
|
NM_152384.3(BBS5):c.266G>A (p.Arg89Gln)
|
rs931751345
|
0.00001
|
NM_152384.3(BBS5):c.276T>C (p.Thr92=)
|
rs775970045
|
0.00001
|
NM_152384.3(BBS5):c.287A>G (p.Tyr96Cys)
|
rs763784832
|
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.364A>G (p.Thr122Ala)
|
rs1244656681
|
0.00001
|
NM_152384.3(BBS5):c.386+16A>G
|
rs1454698956
|
0.00001
|
NM_152384.3(BBS5):c.413G>A (p.Arg138His)
|
rs179363897
|
0.00001
|
NM_152384.3(BBS5):c.472G>A (p.Glu158Lys)
|
rs1683625962
|
0.00001
|
NM_152384.3(BBS5):c.523-11G>A
|
rs756035013
|
0.00001
|
NM_152384.3(BBS5):c.60-10T>G
|
rs1224093899
|
0.00001
|
NM_152384.3(BBS5):c.633T>C (p.Ile211=)
|
rs1245371466
|
0.00001
|
NM_152384.3(BBS5):c.664A>G (p.Ile222Val)
|
rs146488006
|
0.00001
|
NM_152384.3(BBS5):c.675T>G (p.Ser225=)
|
rs1299275211
|
0.00001
|
NM_152384.3(BBS5):c.681+9T>C
|
rs751819870
|
0.00001
|
NM_152384.3(BBS5):c.817-1G>T
|
rs1466289570
|
0.00001
|
NM_152384.3(BBS5):c.826C>T (p.Leu276Phe)
|
rs770319545
|
0.00001
|
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys)
|
rs759233586
|
0.00001
|
NM_152384.3(BBS5):c.887C>T (p.Thr296Met)
|
rs755594935
|
0.00001
|
NM_152384.3(BBS5):c.888G>A (p.Thr296=)
|
rs777702222
|
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.1011T>C (p.Val337=)
|
rs762298486
|
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.1064G>A (p.Arg355Gln)
|
rs1474900361
|
0.00001
|
NM_152618.3(BBS12):c.1074C>T (p.Leu358=)
|
rs1162225747
|
0.00001
|
NM_152618.3(BBS12):c.1085A>G (p.Asp362Gly)
|
rs1800908966
|
0.00001
|
NM_152618.3(BBS12):c.1089C>A (p.Leu363=)
|
rs745647149
|
0.00001
|
NM_152618.3(BBS12):c.1107C>T (p.His369=)
|
rs375244084
|
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.1205A>G (p.Gln402Arg)
|
rs763765486
|
0.00001
|
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)
|
rs771456483
|
0.00001
|
NM_152618.3(BBS12):c.1297G>A (p.Val433Ile)
|
rs538077275
|
0.00001
|
NM_152618.3(BBS12):c.1299A>G (p.Val433=)
|
rs764582469
|
0.00001
|
NM_152618.3(BBS12):c.1302C>T (p.Ile434=)
|
rs773214415
|
0.00001
|
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)
|
rs1269565757
|
0.00001
|
NM_152618.3(BBS12):c.1390T>C (p.Cys464Arg)
|
rs373652329
|
0.00001
|
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
|
rs1357690062
|
0.00001
|
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg)
|
rs144910481
|
0.00001
|
NM_152618.3(BBS12):c.1425A>G (p.Arg475=)
|
rs757311921
|
0.00001
|
NM_152618.3(BBS12):c.1464C>T (p.Ile488=)
|
rs907927925
|
0.00001
|
NM_152618.3(BBS12):c.1468A>G (p.Ile490Val)
|
rs775189952
|
0.00001
|
NM_152618.3(BBS12):c.1490T>C (p.Ile497Thr)
|
rs754049744
|
0.00001
|
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser)
|
rs142593414
|
0.00001
|
NM_152618.3(BBS12):c.1512C>T (p.Leu504=)
|
rs777299324
|
0.00001
|
NM_152618.3(BBS12):c.1521A>G (p.Pro507=)
|
rs778636035
|
0.00001
|
NM_152618.3(BBS12):c.1554G>A (p.Arg518=)
|
rs769108774
|
0.00001
|
NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys)
|
rs770746493
|
0.00001
|
NM_152618.3(BBS12):c.1573C>T (p.Arg525Cys)
|
rs760420127
|
0.00001
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
0.00001
|
NM_152618.3(BBS12):c.1590A>G (p.Leu530=)
|
rs886059059
|
0.00001
|
NM_152618.3(BBS12):c.1623A>T (p.Ala541=)
|
rs368003653
|
0.00001
|
NM_152618.3(BBS12):c.1658T>A (p.Leu553His)
|
rs753004315
|
0.00001
|
NM_152618.3(BBS12):c.1660G>T (p.Ala554Ser)
|
rs1800929603
|
0.00001
|
NM_152618.3(BBS12):c.1686C>A (p.Asn562Lys)
|
rs778686947
|
0.00001
|
NM_152618.3(BBS12):c.1768T>C (p.Phe590Leu)
|
rs767882942
|
0.00001
|
NM_152618.3(BBS12):c.1809A>G (p.Leu603=)
|
rs141393809
|
0.00001
|
NM_152618.3(BBS12):c.1823A>G (p.Asn608Ser)
|
rs184225705
|
0.00001
|
NM_152618.3(BBS12):c.1849A>G (p.Thr617Ala)
|
rs771057055
|
0.00001
|
NM_152618.3(BBS12):c.1883A>G (p.Asp628Gly)
|
rs758135703
|
0.00001
|
NM_152618.3(BBS12):c.1884C>T (p.Asp628=)
|
rs1463043869
|
0.00001
|
NM_152618.3(BBS12):c.1899A>G (p.Ser633=)
|
rs892531107
|
0.00001
|
NM_152618.3(BBS12):c.18A>G (p.Arg6=)
|
rs373705066
|
0.00001
|
NM_152618.3(BBS12):c.191G>A (p.Ser64Asn)
|
rs1361081580
|
0.00001
|
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr)
|
rs1361081580
|
0.00001
|
NM_152618.3(BBS12):c.1935T>G (p.Ser645Arg)
|
rs905750251
|
0.00001
|
NM_152618.3(BBS12):c.1998T>C (p.Val666=)
|
rs1480476254
|
0.00001
|
NM_152618.3(BBS12):c.2001A>G (p.Thr667=)
|
rs539331301
|
0.00001
|
NM_152618.3(BBS12):c.2016G>A (p.Ala672=)
|
rs186713451
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_152618.3(BBS12):c.2115G>T (p.Thr705=)
|
rs1578492538
|
0.00001
|
NM_152618.3(BBS12):c.2117G>C (p.Gly706Ala)
|
rs759180956
|
0.00001
|
NM_152618.3(BBS12):c.237C>T (p.Asn79=)
|
rs373273487
|
0.00001
|
NM_152618.3(BBS12):c.243T>C (p.Tyr81=)
|
rs772942987
|
0.00001
|
NM_152618.3(BBS12):c.339A>T (p.Val113=)
|
rs1180097077
|
0.00001
|
NM_152618.3(BBS12):c.34A>C (p.Arg12=)
|
rs1292291520
|
0.00001
|
NM_152618.3(BBS12):c.37C>T (p.His13Tyr)
|
rs964582500
|
0.00001
|
NM_152618.3(BBS12):c.382G>A (p.Val128Ile)
|
rs375439566
|
0.00001
|
NM_152618.3(BBS12):c.438A>G (p.Thr146=)
|
rs747471347
|
0.00001
|
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)
|
rs1194574169
|
0.00001
|
NM_152618.3(BBS12):c.495A>G (p.Ser165=)
|
rs973455617
|
0.00001
|
NM_152618.3(BBS12):c.508A>G (p.Ile170Val)
|
rs1218692709
|
0.00001
|
NM_152618.3(BBS12):c.624A>G (p.Ala208=)
|
rs1423331367
|
0.00001
|
NM_152618.3(BBS12):c.63A>T (p.Ser21=)
|
rs776279953
|
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.664dup (p.Ala222fs)
|
rs1800897309
|
0.00001
|
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)
|
rs770872200
|
0.00001
|
NM_152618.3(BBS12):c.715A>T (p.Arg239Trp)
|
rs1800898589
|
0.00001
|
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys)
|
rs1179124061
|
0.00001
|
NM_152618.3(BBS12):c.765T>C (p.His255=)
|
rs185341959
|
0.00001
|
NM_152618.3(BBS12):c.789C>T (p.Tyr263=)
|
rs974173261
|
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_152618.3(BBS12):c.802T>C (p.Leu268=)
|
rs771195621
|
0.00001
|
NM_152618.3(BBS12):c.830A>G (p.His277Arg)
|
rs1456373861
|
0.00001
|
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)
|
rs121918328
|
0.00001
|
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter)
|
rs754448484
|
0.00001
|
NM_152618.3(BBS12):c.908A>G (p.Asn303Ser)
|
rs1399257163
|
0.00001
|
NM_152618.3(BBS12):c.933C>T (p.Asp311=)
|
rs777668587
|
0.00001
|
NM_152618.3(BBS12):c.942A>G (p.Arg314=)
|
rs1800904511
|
0.00001
|
NM_176824.3(BBS7):c.1011G>A (p.Glu337=)
|
rs1726068187
|
0.00001
|
NM_176824.3(BBS7):c.103-15T>G
|
rs368818439
|
0.00001
|
NM_176824.3(BBS7):c.1038-16A>G
|
rs201278442
|
0.00001
|
NM_176824.3(BBS7):c.1053T>C (p.His351=)
|
rs202187503
|
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.1091A>C (p.Gln364Pro)
|
rs746699644
|
0.00001
|
NM_176824.3(BBS7):c.1124C>T (p.Ala375Val)
|
rs749603454
|
0.00001
|
NM_176824.3(BBS7):c.1139G>A (p.Gly380Asp)
|
rs921736196
|
0.00001
|
NM_176824.3(BBS7):c.1184G>A (p.Ser395Asn)
|
rs889491713
|
0.00001
|
NM_176824.3(BBS7):c.1190T>C (p.Ile397Thr)
|
rs1725962975
|
0.00001
|
NM_176824.3(BBS7):c.1231-15T>A
|
rs530819337
|
0.00001
|
NM_176824.3(BBS7):c.1305+12T>C
|
rs376754689
|
0.00001
|
NM_176824.3(BBS7):c.1306-5C>T
|
rs1475632900
|
0.00001
|
NM_176824.3(BBS7):c.1344G>C (p.Gln448His)
|
rs1473005529
|
0.00001
|
NM_176824.3(BBS7):c.1371+14A>C
|
rs1725624096
|
0.00001
|
NM_176824.3(BBS7):c.1421C>G (p.Pro474Arg)
|
rs771018739
|
0.00001
|
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)
|
rs1470030897
|
0.00001
|
NM_176824.3(BBS7):c.1487G>A (p.Arg496Lys)
|
rs750133083
|
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.1592T>C (p.Val531Ala)
|
rs778439860
|
0.00001
|
NM_176824.3(BBS7):c.1676+10A>G
|
rs767020583
|
0.00001
|
NM_176824.3(BBS7):c.1676+7C>G
|
rs1247015446
|
0.00001
|
NM_176824.3(BBS7):c.1677-16del
|
rs761923235
|
0.00001
|
NM_176824.3(BBS7):c.1691T>C (p.Val564Ala)
|
rs1463083357
|
0.00001
|
NM_176824.3(BBS7):c.1717A>G (p.Ile573Val)
|
rs751029709
|
0.00001
|
NM_176824.3(BBS7):c.1721C>G (p.Ser574Cys)
|
rs765782762
|
0.00001
|
NM_176824.3(BBS7):c.1725C>T (p.Ile575=)
|
rs938747332
|
0.00001
|
NM_176824.3(BBS7):c.1729A>C (p.Lys577Gln)
|
rs200953128
|
0.00001
|
NM_176824.3(BBS7):c.189G>T (p.Gly63=)
|
rs541833400
|
0.00001
|
NM_176824.3(BBS7):c.1904A>T (p.His635Leu)
|
rs1233960628
|
0.00001
|
NM_176824.3(BBS7):c.1916C>T (p.Thr639Met)
|
rs773771144
|
0.00001
|
NM_176824.3(BBS7):c.1917G>A (p.Thr639=)
|
rs770239209
|
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.1989A>G (p.Gln663=)
|
rs753795840
|
0.00001
|
NM_176824.3(BBS7):c.198T>G (p.Ile66Met)
|
rs367765050
|
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.2017A>T (p.Met673Leu)
|
rs1436556570
|
0.00001
|
NM_176824.3(BBS7):c.2082C>A (p.Pro694=)
|
rs759152556
|
0.00001
|
NM_176824.3(BBS7):c.2136C>T (p.Phe712=)
|
rs199782217
|
0.00001
|
NM_176824.3(BBS7):c.213G>A (p.Leu71=)
|
rs778509860
|
0.00001
|
NM_176824.3(BBS7):c.257C>T (p.Ala86Val)
|
rs1274597386
|
0.00001
|
NM_176824.3(BBS7):c.262T>G (p.Ser88Ala)
|
rs1489244436
|
0.00001
|
NM_176824.3(BBS7):c.277T>G (p.Phe93Val)
|
rs750813339
|
0.00001
|
NM_176824.3(BBS7):c.286A>C (p.Arg96=)
|
rs754438760
|
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.651G>A (p.Ala217=)
|
rs750691939
|
0.00001
|
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)
|
rs727503821
|
0.00001
|
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr)
|
rs766450289
|
0.00001
|
NM_176824.3(BBS7):c.786T>A (p.Asp262Glu)
|
rs1437278443
|
0.00001
|
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)
|
rs151275562
|
0.00001
|
NM_176824.3(BBS7):c.849+18G>T
|
rs1423156185
|
0.00001
|
NM_176824.3(BBS7):c.849+1G>C
|
rs763719688
|
0.00001
|
NM_176824.3(BBS7):c.849+6T>G
|
rs759955004
|
0.00001
|
NM_176824.3(BBS7):c.852G>A (p.Met284Ile)
|
rs771877302
|
0.00001
|
NM_176824.3(BBS7):c.876C>A (p.Ile292=)
|
rs369319119
|
0.00001
|
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)
|
rs889417696
|
0.00001
|
NM_176824.3(BBS7):c.895A>G (p.Lys299Glu)
|
rs1275186434
|
0.00001
|
NM_176824.3(BBS7):c.915C>T (p.Ile305=)
|
rs776811172
|
0.00001
|
NM_176824.3(BBS7):c.944C>T (p.Thr315Ile)
|
rs1488474028
|
0.00001
|
NM_176824.3(BBS7):c.964A>G (p.Ile322Val)
|
rs762359988
|
0.00001
|
NM_176824.3(BBS7):c.983C>A (p.Pro328Gln)
|
rs778714139
|
0.00001
|
NM_198428.3(BBS9):c.1016+13A>G
|
rs1800275981
|
0.00001
|
NM_198428.3(BBS9):c.1016+9T>C
|
rs1368671043
|
0.00001
|
NM_198428.3(BBS9):c.1033A>G (p.Ile345Val)
|
rs1426530664
|
0.00001
|
NM_198428.3(BBS9):c.1048G>C (p.Asp350His)
|
rs1450271969
|
0.00001
|
NM_198428.3(BBS9):c.1056T>A (p.Gly352=)
|
rs1815379840
|
0.00001
|
NM_198428.3(BBS9):c.1111G>A (p.Val371Ile)
|
rs1366355966
|
0.00001
|
NM_198428.3(BBS9):c.112+13C>A
|
rs1562672800
|
0.00001
|
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)
|
rs998200637
|
0.00001
|
NM_198428.3(BBS9):c.1147G>A (p.Val383Ile)
|
rs1030973947
|
0.00001
|
NM_198428.3(BBS9):c.1175del (p.Ile392fs)
|
rs1815414782
|
0.00001
|
NM_198428.3(BBS9):c.1210A>G (p.Met404Val)
|
rs779666112
|
0.00001
|
NM_198428.3(BBS9):c.122T>G (p.Ile41Ser)
|
rs1381039813
|
0.00001
|
NM_198428.3(BBS9):c.1258A>G (p.Asn420Asp)
|
rs1436119227
|
0.00001
|
NM_198428.3(BBS9):c.1287T>C (p.Asp429=)
|
rs765234386
|
0.00001
|
NM_198428.3(BBS9):c.1329+5T>C
|
rs200033003
|
0.00001
|
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr)
|
rs773192233
|
0.00001
|
NM_198428.3(BBS9):c.1361A>G (p.Lys454Arg)
|
rs370631861
|
0.00001
|
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter)
|
rs762511626
|
0.00001
|
NM_198428.3(BBS9):c.1464T>C (p.Ser488=)
|
rs200850911
|
0.00001
|
NM_198428.3(BBS9):c.1481G>A (p.Ser494Asn)
|
rs775868685
|
0.00001
|
NM_198428.3(BBS9):c.1511C>T (p.Ala504Val)
|
rs750504833
|
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.1558C>T (p.Pro520Ser)
|
rs149730302
|
0.00001
|
NM_198428.3(BBS9):c.155T>G (p.Phe52Cys)
|
rs756750359
|
0.00001
|
NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter)
|
rs748601675
|
0.00001
|
NM_198428.3(BBS9):c.1574G>A (p.Cys525Tyr)
|
rs746119144
|
0.00001
|
NM_198428.3(BBS9):c.1593A>G (p.Leu531=)
|
rs1819915912
|
0.00001
|
NM_198428.3(BBS9):c.1642A>G (p.Ile548Val)
|
rs1050416352
|
0.00001
|
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala)
|
rs1310602174
|
0.00001
|
NM_198428.3(BBS9):c.1686C>T (p.Leu562=)
|
rs1278366304
|
0.00001
|
NM_198428.3(BBS9):c.1693+1G>A
|
rs1295000119
|
0.00001
|
NM_198428.3(BBS9):c.1699G>A (p.Ala567Thr)
|
rs200439561
|
0.00001
|
NM_198428.3(BBS9):c.1790-15A>T
|
rs758380962
|
0.00001
|
NM_198428.3(BBS9):c.1790-7C>T
|
rs746901030
|
0.00001
|
NM_198428.3(BBS9):c.1815A>G (p.Gln605=)
|
rs1292611620
|
0.00001
|
NM_198428.3(BBS9):c.1819G>A (p.Glu607Lys)
|
rs771575427
|
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.1856G>A (p.Arg619His)
|
rs750412402
|
0.00001
|
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu)
|
rs771777721
|
0.00001
|
NM_198428.3(BBS9):c.1911G>A (p.Ser637=)
|
rs138454676
|
0.00001
|
NM_198428.3(BBS9):c.1918_1920dup (p.Ile640dup)
|
rs761174142
|
0.00001
|
NM_198428.3(BBS9):c.1963-11A>G
|
rs749640684
|
0.00001
|
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys)
|
rs746543061
|
0.00001
|
NM_198428.3(BBS9):c.2070C>G (p.Ala690=)
|
rs200515072
|
0.00001
|
NM_198428.3(BBS9):c.2072C>T (p.Pro691Leu)
|
rs759571062
|
0.00001
|
NM_198428.3(BBS9):c.2088C>A (p.Asp696Glu)
|
rs752548438
|
0.00001
|
NM_198428.3(BBS9):c.2099A>G (p.Asp700Gly)
|
rs763790518
|
0.00001
|
NM_198428.3(BBS9):c.2116-4G>T
|
rs769866686
|
0.00001
|
NM_198428.3(BBS9):c.2136A>G (p.Ala712=)
|
rs1200861380
|
0.00001
|
NM_198428.3(BBS9):c.2142G>A (p.Glu714=)
|
rs1846024220
|
0.00001
|
NM_198428.3(BBS9):c.214del (p.Val72fs)
|
rs1384578916
|
0.00001
|
NM_198428.3(BBS9):c.2208G>A (p.Leu736=)
|
rs758765828
|
0.00001
|
NM_198428.3(BBS9):c.2274G>A (p.Pro758=)
|
rs746134918
|
0.00001
|
NM_198428.3(BBS9):c.231A>G (p.Pro77=)
|
rs763936170
|
0.00001
|
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu)
|
rs1402083567
|
0.00001
|
NM_198428.3(BBS9):c.2373G>T (p.Gln791His)
|
rs758968522
|
0.00001
|
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser)
|
rs774701632
|
0.00001
|
NM_198428.3(BBS9):c.2433T>C (p.His811=)
|
rs1850999612
|
0.00001
|
NM_198428.3(BBS9):c.2448C>T (p.Cys816=)
|
rs375606348
|
0.00001
|
NM_198428.3(BBS9):c.2472T>C (p.Arg824=)
|
rs753957320
|
0.00001
|
NM_198428.3(BBS9):c.2491G>A (p.Ala831Thr)
|
rs1851012393
|
0.00001
|
NM_198428.3(BBS9):c.2533A>G (p.Thr845Ala)
|
rs545725547
|
0.00001
|
NM_198428.3(BBS9):c.2566G>T (p.Val856Leu)
|
rs764122627
|
0.00001
|
NM_198428.3(BBS9):c.2621C>T (p.Thr874Ile)
|
rs750363787
|
0.00001
|
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser)
|
rs755911247
|
0.00001
|
NM_198428.3(BBS9):c.263+13A>T
|
rs374383847
|
0.00001
|
NM_198428.3(BBS9):c.263+1G>A
|
rs137962929
|
0.00001
|
NM_198428.3(BBS9):c.2633-10T>C
|
rs879202314
|
0.00001
|
NM_198428.3(BBS9):c.2636T>A (p.Val879Asp)
|
rs976242629
|
0.00001
|
NM_198428.3(BBS9):c.263C>T (p.Ser88Leu)
|
rs749974697
|
0.00001
|
NM_198428.3(BBS9):c.2654T>C (p.Val885Ala)
|
rs1238854328
|
0.00001
|
NM_198428.3(BBS9):c.2658G>A (p.Ser886=)
|
rs748336687
|
0.00001
|
NM_198428.3(BBS9):c.312T>C (p.Cys104=)
|
rs1793992071
|
0.00001
|
NM_198428.3(BBS9):c.318C>T (p.Tyr106=)
|
rs200476774
|
0.00001
|
NM_198428.3(BBS9):c.328+16A>G
|
rs749205665
|
0.00001
|
NM_198428.3(BBS9):c.395A>G (p.Gln132Arg)
|
rs542324847
|
0.00001
|
NM_198428.3(BBS9):c.397A>G (p.Arg133Gly)
|
rs759120113
|
0.00001
|
NM_198428.3(BBS9):c.410A>G (p.Asn137Ser)
|
rs752108930
|
0.00001
|
NM_198428.3(BBS9):c.442+1G>C
|
rs587777811
|
0.00001
|
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter)
|
rs781174906
|
0.00001
|
NM_198428.3(BBS9):c.469A>G (p.Met157Val)
|
rs148763093
|
0.00001
|
NM_198428.3(BBS9):c.49A>G (p.Lys17Glu)
|
rs1329996453
|
0.00001
|
NM_198428.3(BBS9):c.507T>C (p.Tyr169=)
|
rs376901170
|
0.00001
|
NM_198428.3(BBS9):c.519A>G (p.Arg173=)
|
rs911834235
|
0.00001
|
NM_198428.3(BBS9):c.632C>T (p.Ala211Val)
|
rs1225416201
|
0.00001
|
NM_198428.3(BBS9):c.665C>T (p.Thr222Ile)
|
rs1317691865
|
0.00001
|
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser)
|
rs1279852557
|
0.00001
|
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
|
rs767005321
|
0.00001
|
NM_198428.3(BBS9):c.839T>C (p.Met280Thr)
|
rs143119193
|
0.00001
|
NM_198428.3(BBS9):c.894A>C (p.Glu298Asp)
|
rs757469936
|
0.00001
|
NM_198428.3(BBS9):c.929A>T (p.Asn310Ile)
|
rs1341125124
|
0.00001
|
NM_198428.3(BBS9):c.930C>T (p.Asn310=)
|
rs140396972
|
0.00001
|
NM_198428.3(BBS9):c.938A>G (p.His313Arg)
|
rs533714503
|
0.00001
|
NM_198428.3(BBS9):c.954G>A (p.Val318=)
|
rs774067100
|
0.00001
|
NM_198428.3(BBS9):c.979C>T (p.Pro327Ser)
|
rs760272596
|
0.00001
|
NM_198428.3(BBS9):c.989C>T (p.Pro330Leu)
|
rs370056161
|
0.00001
|
NC_000002.11:g.(?_169853125)_(170344644_?)dup
|
|
|
NC_000002.11:g.(?_170336064)_(170336142_?)del
|
|
|
NC_000002.11:g.(?_170344296)_(170382206_?)dup
|
|
|
NC_000002.11:g.(?_170349364)_(170350366_?)del
|
|
|
NC_000002.11:g.(?_170359585)_(170361092_?)del
|
|
|
NC_000002.11:g.(?_62991401)_(64335444_?)dup
|
|
|
NC_000002.11:g.(?_63349141)_(63380709_?)del
|
|
|
NC_000002.11:g.(?_63380029)_(63380729_?)dup
|
|
|
NC_000002.11:g.(?_63380029)_(63401987_?)del
|
|
|
NC_000002.11:g.(?_63401785)_(63401987_?)del
|
|
|
NC_000002.11:g.(?_63486422)_(63609249_?)del
|
|
|
NC_000002.11:g.(?_63486422)_(63815425_?)del
|
|
|
NC_000002.11:g.(?_63540363)_(63540466_?)del
|
|
|
NC_000002.11:g.(?_63540363)_(63667025_?)del
|
|
|
NC_000002.11:g.(?_63605501)_(63605664_?)del
|
|
|
NC_000002.11:g.(?_63660859)_(63667025_?)dup
|
|
|
NC_000002.11:g.(?_63711718)_(63815425_?)del
|
|
|
NC_000002.11:g.(?_63815311)_(63815405_?)del
|
|
|
NC_000002.12:g.(?_169492874)_(169493836_?)del
|
|
|
NC_000002.12:g.(?_63378386)_(63404657_?)del
|
|
|
NC_000002.12:g.(?_63484584)_(63492960_?)del
|
|
|
NC_000004.12:g.(?_122741883)_(122744035_?)del
|
|
|
NC_000007.13:g.(?_33054342)_(33185996_?)del
|
|
|
NC_000007.13:g.(?_33136085)_(33185996_?)dup
|
|
|
NC_000007.13:g.(?_33136085)_(33192483_?)del
|
|
|
NC_000007.13:g.(?_33185845)_(33185996_?)dup
|
|
|
NC_000007.13:g.(?_33185855)_(33195324_?)del
|
|
|
NC_000007.13:g.(?_33185865)_(33644838_?)dup
|
|
|
NC_000007.13:g.(?_33192293)_(33192483_?)dup
|
|
|
NC_000007.13:g.(?_33192313)_(33195314_?)dup
|
|
|
NC_000007.13:g.(?_33195240)_(33195324_?)dup
|
|
|
NC_000007.13:g.(?_33296828)_(33313588_?)del
|
|
|
NC_000007.13:g.(?_33296828)_(33427776_?)del
|
|
|
NC_000007.13:g.(?_33312604)_(33313588_?)dup
|
|
|
NC_000007.13:g.(?_33376033)_(33427776_?)del
|
|
|
NC_000007.13:g.(?_33388660)_(33388802_?)del
|
|
|
NC_000007.13:g.(?_33388660)_(33397627_?)del
|
|
|
NC_000007.13:g.(?_33423258)_(33427776_?)dup
|
|
|
NC_000007.13:g.(?_33644457)_(33644838_?)dup
|
|
|
NC_000007.13:g.(?_33644477)_(33767915_?)dup
|
|
|
NC_000007.14:g.(?_33095234)_(33146364_?)dup
|
|
|
NC_000007.14:g.(?_33505463)_(33505645_?)del
|
|
|
NC_000007.14:g.(?_33505463)_(33605226_?)del
|
|
|
NC_000009.11:g.(?_119380583)_(119495822_?)del
|
|
|
NC_000009.11:g.(?_119460155)_(119508439_?)del
|
|
|
NC_000009.11:g.(?_119461613)_(119523251_?)del
|
|
|
NC_000009.12:g.(?_116618324)_(116805820_?)del
|
|
|
NC_000009.12:g.(?_116697723)_(116699724_?)del
|
|
|
NC_000009.12:g.(?_116697733)_(116699714_?)del
|
|
|
NC_000009.12:g.(?_116697743)_(116699704_?)del
|
|
|
NC_000009.12:g.(?_116697743)_(116820783_?)del
|
|
|
NC_000011.10:g.(?_66510640)_(66523902_?)del
|
|
|
NC_000011.10:g.(?_66510650)_(66511249_?)del
|
|
|
NC_000011.10:g.(?_66510650)_(66524211_?)del
|
|
|
NC_000011.10:g.(?_66519607)_(66521386_?)del
|
|
|
NC_000011.10:g.(?_66523446)_(66524211_?)del
|
|
|
NC_000011.10:g.(?_66529809)_(66532047_?)del
|
|
|
NC_000011.10:g.66515694del
|
|
|
NC_000011.9:g.(?_64522783)_(66283694_?)del
|
|
|
NC_000011.9:g.(?_66278111)_(66299528_?)del
|
|
|
NC_000011.9:g.(?_66278131)_(66278730_?)dup
|
|
|
NC_000011.9:g.(?_66278131)_(66283424_?)del
|
|
|
NC_000011.9:g.(?_66281867)_(66288857_?)dup
|
|
|
NC_000011.9:g.(?_66283001)_(66287229_?)del
|
|
|
NC_000011.9:g.(?_66283154)_(66287229_?)del
|
|
|
NC_000011.9:g.(?_66287078)_(66291105_?)del
|
|
|
NC_000011.9:g.(?_66288721)_(66293683_?)del
|
|
|
NC_000011.9:g.(?_66290917)_(66291363_?)del
|
|
|
NC_000011.9:g.(?_66290917)_(66294288_?)dup
|
|
|
NC_000011.9:g.(?_66291682)_(66293673_?)del
|
|
|
NC_000011.9:g.(?_66293041)_(66297307_?)del
|
|
|
NC_000011.9:g.(?_66293574)_(66299508_?)del
|
|
|
NC_000011.9:g.(?_66296758)_(66307295_?)del
|
|
|
NC_000012.11:g.(?_76739593)_(76742138_?)dup
|
|
|
NC_000012.12:g.(?_76345803)_(76348368_?)del
|
|
|
NC_000014.8:g.(?_88852143)_(89343774_?)dup
|
|
|
NC_000014.8:g.(?_89291052)_(89305916_?)dup
|
|
|
NC_000014.8:g.(?_89291052)_(89343754_?)dup
|
|
|
NC_000014.8:g.(?_89319295)_(89319420_?)del
|
|
|
NC_000014.8:g.(?_89319295)_(89323641_?)del
|
|
|
NC_000014.8:g.(?_89327546)_(89327696_?)del
|
|
|
NC_000015.10:g.(?_72676034)_(72704515_?)dup
|
|
|
NC_000015.10:g.(?_72686218)_(72686261_?)del
|
|
|
NC_000015.10:g.(?_72709680)_(72712327_?)del
|
|
|
NC_000015.10:g.(?_72715271)_(72716870_?)del
|
|
|
NC_000015.9:g.(?_72978549)_(73029948_?)del
|
|
|
NC_000015.9:g.(?_72978549)_(73029948_?)dup
|
|
|
NC_000015.9:g.(?_72978569)_(73009211_?)del
|
|
|
NC_000015.9:g.(?_72978569)_(75190071_?)dup
|
|
|
NC_000015.9:g.(?_73004565)_(73009211_?)del
|
|
|
NC_000015.9:g.(?_73004585)_(73004648_?)del
|
|
|
NC_000015.9:g.(?_73015115)_(73020355_?)del
|
|
|
NC_000015.9:g.(?_73015115)_(73024087_?)del
|
|
|
NC_000016.9:g.(?_56226148)_(58768132_?)del
|
|
|
NC_000016.9:g.(?_56518653)_(56545216_?)del
|
|
|
NC_000016.9:g.(?_56534756)_(56545206_?)del
|
|
|
NC_000016.9:g.(?_56544751)_(56545216_?)del
|
|
|
NC_000016.9:g.(?_56545061)_(56545206_?)del
|
|
|
NM_012210.4(TRIM32):c.1002C>G (p.Ala334=)
|
|
|
NM_012210.4(TRIM32):c.1009A>G (p.Arg337Gly)
|
|
|
NM_012210.4(TRIM32):c.1013C>G (p.Ala338Gly)
|
|
|
NM_012210.4(TRIM32):c.1014C>T (p.Ala338=)
|
|
|
NM_012210.4(TRIM32):c.1018C>A (p.Pro340Thr)
|
|
|
NM_012210.4(TRIM32):c.1030C>A (p.Arg344=)
|
|
|
NM_012210.4(TRIM32):c.1031G>A (p.Arg344Gln)
|
|
|
NM_012210.4(TRIM32):c.1034G>C (p.Gly345Ala)
|
|
|
NM_012210.4(TRIM32):c.1041G>A (p.Glu347=)
|
rs1588217225
|
|
NM_012210.4(TRIM32):c.1045G>C (p.Ala349Pro)
|
|
|
NM_012210.4(TRIM32):c.1046C>T (p.Ala349Val)
|
rs774316527
|
|
NM_012210.4(TRIM32):c.1059G>A (p.Gln353=)
|
|
|
NM_012210.4(TRIM32):c.1065C>T (p.Cys355=)
|
|
|
NM_012210.4(TRIM32):c.1074C>T (p.Leu358=)
|
|
|
NM_012210.4(TRIM32):c.1087del (p.Ala363fs)
|
|
|
NM_012210.4(TRIM32):c.1095C>G (p.Gly365=)
|
rs1861024296
|
|
NM_012210.4(TRIM32):c.1095C>T (p.Gly365=)
|
rs1861024296
|
|
NM_012210.4(TRIM32):c.1104A>C (p.Pro368=)
|
|
|
NM_012210.4(TRIM32):c.1104A>G (p.Pro368=)
|
|
|
NM_012210.4(TRIM32):c.1105G>A (p.Gly369Arg)
|
rs2132073931
|
|
NM_012210.4(TRIM32):c.1108del (p.Met370fs)
|
rs759376012
|
|
NM_012210.4(TRIM32):c.1110G>A (p.Met370Ile)
|
rs1861024967
|
|
NM_012210.4(TRIM32):c.1114A>C (p.Asn372His)
|
|
|
NM_012210.4(TRIM32):c.111G>A (p.Leu37=)
|
|
|
NM_012210.4(TRIM32):c.1125C>G (p.Val375=)
|
|
|
NM_012210.4(TRIM32):c.1125C>T (p.Val375=)
|
|
|
NM_012210.4(TRIM32):c.1135G>A (p.Val379Met)
|
rs1861026363
|
|
NM_012210.4(TRIM32):c.1139C>G (p.Thr380Ser)
|
rs139277710
|
|
NM_012210.4(TRIM32):c.1143T>G (p.Ser381Arg)
|
rs1861027670
|
|
NM_012210.4(TRIM32):c.1146A>G (p.Gln382=)
|
|
|
NM_012210.4(TRIM32):c.1149T>G (p.Gly383=)
|
rs1861027829
|
|
NM_012210.4(TRIM32):c.1152A>G (p.Glu384=)
|
|
|
NM_012210.4(TRIM32):c.1155A>C (p.Val385=)
|
|
|
NM_012210.4(TRIM32):c.1167C>A (p.Asp389Glu)
|
rs2132074143
|
|
NM_012210.4(TRIM32):c.1167C>T (p.Asp389=)
|
|
|
NM_012210.4(TRIM32):c.1173T>C (p.Gly391=)
|
|
|
NM_012210.4(TRIM32):c.1185dup (p.Gln396fs)
|
rs1180939705
|
|
NM_012210.4(TRIM32):c.1188del (p.Val397fs)
|
|
|
NM_012210.4(TRIM32):c.1194T>C (p.Phe398=)
|
rs980926202
|
|
NM_012210.4(TRIM32):c.1197C>A (p.Thr399=)
|
rs779442616
|
|
NM_012210.4(TRIM32):c.1199G>T (p.Arg400Leu)
|
rs373015960
|
|
NM_012210.4(TRIM32):c.11C>T (p.Ala4Val)
|
|
|
NM_012210.4(TRIM32):c.1204G>A (p.Gly402Ser)
|
rs555106908
|
|
NM_012210.4(TRIM32):c.1206C>G (p.Gly402=)
|
|
|
NM_012210.4(TRIM32):c.1218A>G (p.Glu406=)
|
|
|
NM_012210.4(TRIM32):c.1221C>A (p.Ile407=)
|
|
|
NM_012210.4(TRIM32):c.1230C>T (p.Ser410=)
|
rs1055663395
|
|
NM_012210.4(TRIM32):c.1238G>T (p.Gly413Val)
|
|
|
NM_012210.4(TRIM32):c.1255C>T (p.Leu419=)
|
rs2132074396
|
|
NM_012210.4(TRIM32):c.1263C>T (p.Phe421=)
|
|
|
NM_012210.4(TRIM32):c.1279C>T (p.Pro427Ser)
|
rs2132074445
|
|
NM_012210.4(TRIM32):c.1285C>T (p.Leu429Phe)
|
rs757634856
|
|
NM_012210.4(TRIM32):c.1299A>T (p.Ser433=)
|
|
|
NM_012210.4(TRIM32):c.1303G>A (p.Ala435Thr)
|
rs1861037722
|
|
NM_012210.4(TRIM32):c.1313G>A (p.Cys438Tyr)
|
rs1861038374
|
|
NM_012210.4(TRIM32):c.1314C>T (p.Cys438=)
|
|
|
NM_012210.4(TRIM32):c.1315C>G (p.Gln439Glu)
|
rs2132074558
|
|
NM_012210.4(TRIM32):c.1344T>C (p.Tyr448=)
|
|
|
NM_012210.4(TRIM32):c.1350C>T (p.Asn450=)
|
|
|
NM_012210.4(TRIM32):c.1354C>A (p.Leu452Ile)
|
|
|
NM_012210.4(TRIM32):c.1362A>G (p.Val454=)
|
|
|
NM_012210.4(TRIM32):c.1365T>C (p.Tyr455=)
|
|
|
NM_012210.4(TRIM32):c.1370dup (p.Leu457fs)
|
rs35904234
|
|
NM_012210.4(TRIM32):c.1374T>C (p.Asp458=)
|
|
|
NM_012210.4(TRIM32):c.1376G>A (p.Gly459Asp)
|
|
|
NM_012210.4(TRIM32):c.1377C>A (p.Gly459=)
|
|
|
NM_012210.4(TRIM32):c.137A>G (p.Gln46Arg)
|
|
|
NM_012210.4(TRIM32):c.1381T>C (p.Cys461Arg)
|
|
|
NM_012210.4(TRIM32):c.1386G>T (p.Val462=)
|
|
|
NM_012210.4(TRIM32):c.1387G>C (p.Ala463Pro)
|
rs886043897
|
|
NM_012210.4(TRIM32):c.141C>T (p.Cys47=)
|
|
|
NM_012210.4(TRIM32):c.1434G>A (p.Leu478=)
|
|
|
NM_012210.4(TRIM32):c.1434G>T (p.Leu478Phe)
|
|
|
NM_012210.4(TRIM32):c.1437A>G (p.Pro479=)
|
|
|
NM_012210.4(TRIM32):c.1443C>A (p.Gly481=)
|
|
|
NM_012210.4(TRIM32):c.1449T>G (p.Phe483Leu)
|
rs2132074954
|
|
NM_012210.4(TRIM32):c.1458C>G (p.Thr486=)
|
|
|
NM_012210.4(TRIM32):c.1461T>C (p.Asp487=)
|
rs922859943
|
|
NM_012210.4(TRIM32):c.1464G>A (p.Val488=)
|
|
|
NM_012210.4(TRIM32):c.147G>A (p.Glu49=)
|
|
|
NM_012210.4(TRIM32):c.1491A>G (p.Thr497=)
|
|
|
NM_012210.4(TRIM32):c.1499G>A (p.Arg500Gln)
|
|
|
NM_012210.4(TRIM32):c.149A>C (p.Lys50Thr)
|
|
|
NM_012210.4(TRIM32):c.1505C>G (p.Ser502Ter)
|
|
|
NM_012210.4(TRIM32):c.1506A>G (p.Ser502=)
|
|
|
NM_012210.4(TRIM32):c.1510G>T (p.Val504Leu)
|
rs1165772522
|
|
NM_012210.4(TRIM32):c.1512G>C (p.Val504=)
|
|
|
NM_012210.4(TRIM32):c.1515C>T (p.Val505=)
|
|
|
NM_012210.4(TRIM32):c.1518_1530del (p.Lys506fs)
|
rs2132075143
|
|
NM_012210.4(TRIM32):c.1521C>T (p.Tyr507=)
|
|
|
NM_012210.4(TRIM32):c.1527C>T (p.Cys509=)
|
|
|
NM_012210.4(TRIM32):c.1528C>T (p.Leu510=)
|
|
|
NM_012210.4(TRIM32):c.1530A>C (p.Leu510=)
|
rs145728860
|
|
NM_012210.4(TRIM32):c.1539T>C (p.Ala513=)
|
rs1588218403
|
|
NM_012210.4(TRIM32):c.153A>G (p.Leu51=)
|
rs1413028401
|
|
NM_012210.4(TRIM32):c.1546C>T (p.Pro516Ser)
|
|
|
NM_012210.4(TRIM32):c.154T>C (p.Leu52=)
|
|
|
NM_012210.4(TRIM32):c.1551A>G (p.Lys517=)
|
rs1861054098
|
|
NM_012210.4(TRIM32):c.1560C>G (p.Thr520=)
|
|
|
NM_012210.4(TRIM32):c.1560del (p.Cys521fs)
|
rs1588218453
|
|
NM_012210.4(TRIM32):c.1563T>C (p.Cys521=)
|
|
|
NM_012210.4(TRIM32):c.1563dup (p.Asp522Ter)
|
|
|
NM_012210.4(TRIM32):c.1569T>C (p.Ala523=)
|
|
|
NM_012210.4(TRIM32):c.1569_1575del (p.Glu524fs)
|
rs886044106
|
|
NM_012210.4(TRIM32):c.1578C>A (p.Thr526=)
|
|
|
NM_012210.4(TRIM32):c.1578C>G (p.Thr526=)
|
rs778620127
|
|
NM_012210.4(TRIM32):c.1579G>T (p.Val527Phe)
|
rs368901621
|
|
NM_012210.4(TRIM32):c.1583A>G (p.Tyr528Cys)
|
|
|
NM_012210.4(TRIM32):c.1593G>A (p.Gln531=)
|
rs2132075353
|
|
NM_012210.4(TRIM32):c.159C>T (p.Ala53=)
|
rs2132070452
|
|
NM_012210.4(TRIM32):c.1601G>A (p.Gly534Asp)
|
rs2132075369
|
|
NM_012210.4(TRIM32):c.1602C>T (p.Gly534=)
|
|
|
NM_012210.4(TRIM32):c.1611G>T (p.Leu537=)
|
|
|
NM_012210.4(TRIM32):c.1620G>C (p.Arg540=)
|
|
|
NM_012210.4(TRIM32):c.1635C>T (p.His545=)
|
rs1369528663
|
|
NM_012210.4(TRIM32):c.1638G>A (p.Leu546=)
|
|
|
NM_012210.4(TRIM32):c.164G>T (p.Ser55Ile)
|
rs1564215128
|
|
NM_012210.4(TRIM32):c.1653C>T (p.Ser551=)
|
|
|
NM_012210.4(TRIM32):c.1659C>G (p.Gly553=)
|
rs150318692
|
|
NM_012210.4(TRIM32):c.1659C>T (p.Gly553=)
|
|
|
NM_012210.4(TRIM32):c.1668C>T (p.Gly556=)
|
rs2132075521
|
|
NM_012210.4(TRIM32):c.1671T>C (p.Pro557=)
|
|
|
NM_012210.4(TRIM32):c.1677G>A (p.Gly559=)
|
|
|
NM_012210.4(TRIM32):c.1685del (p.Gly562fs)
|
rs1564218190
|
|
NM_012210.4(TRIM32):c.1686T>C (p.Gly562=)
|
rs2132075583
|
|
NM_012210.4(TRIM32):c.1687C>T (p.Arg563Cys)
|
|
|
NM_012210.4(TRIM32):c.1688G>T (p.Arg563Leu)
|
|
|
NM_012210.4(TRIM32):c.1689C>T (p.Arg563=)
|
|
|
NM_012210.4(TRIM32):c.1695T>G (p.Ile565Met)
|
rs1564218246
|
|
NM_012210.4(TRIM32):c.1696A>G (p.Ser566Gly)
|
rs779755416
|
|
NM_012210.4(TRIM32):c.1703TCT[1] (p.Phe569del)
|
rs1190512893
|
|
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)
|
rs555217187
|
|
NM_012210.4(TRIM32):c.1710G>T (p.Ser570=)
|
rs555217187
|
|
NM_012210.4(TRIM32):c.1716T>C (p.Asn572=)
|
rs2132075693
|
|
NM_012210.4(TRIM32):c.1719G>A (p.Glu573=)
|
|
|
NM_012210.4(TRIM32):c.1726C>T (p.Arg576Cys)
|
|
|
NM_012210.4(TRIM32):c.1729T>C (p.Cys577Arg)
|
|
|
NM_012210.4(TRIM32):c.1737T>C (p.Ala579=)
|
rs1588218802
|
|
NM_012210.4(TRIM32):c.1740C>G (p.Gly580=)
|
|
|
NM_012210.4(TRIM32):c.1757G>A (p.Arg586His)
|
rs866695848
|
|
NM_012210.4(TRIM32):c.1757G>C (p.Arg586Pro)
|
|
|
NM_012210.4(TRIM32):c.1757G>T (p.Arg586Leu)
|
rs866695848
|
|
NM_012210.4(TRIM32):c.1757GTG[1] (p.Gly587del)
|
|
|
NM_012210.4(TRIM32):c.1758T>C (p.Arg586=)
|
|
|
NM_012210.4(TRIM32):c.1763A>T (p.Asp588Val)
|
rs746890090
|
|
NM_012210.4(TRIM32):c.1768A>G (p.Ile590Val)
|
|
|
NM_012210.4(TRIM32):c.1770C>T (p.Ile590=)
|
rs776504480
|
|
NM_012210.4(TRIM32):c.1786C>G (p.Arg596Gly)
|
rs765348678
|
|
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.1788C>A (p.Arg596=)
|
|
|
NM_012210.4(TRIM32):c.178C>A (p.Arg60Ser)
|
rs1353830472
|
|
NM_012210.4(TRIM32):c.179G>A (p.Arg60His)
|
rs751028044
|
|
NM_012210.4(TRIM32):c.179G>T (p.Arg60Leu)
|
rs751028044
|
|
NM_012210.4(TRIM32):c.1818G>C (p.Gly606=)
|
|
|
NM_012210.4(TRIM32):c.1857G>C (p.Pro619=)
|
|
|
NM_012210.4(TRIM32):c.1858G>A (p.Val620Met)
|
rs1861072162
|
|
NM_012210.4(TRIM32):c.1864A>G (p.Ile622Val)
|
rs1366193406
|
|
NM_012210.4(TRIM32):c.186C>T (p.Pro62=)
|
|
|
NM_012210.4(TRIM32):c.1870C>G (p.Leu624Val)
|
rs1564218609
|
|
NM_012210.4(TRIM32):c.1871T>C (p.Leu624Pro)
|
rs761193342
|
|
NM_012210.4(TRIM32):c.1872A>G (p.Leu624=)
|
|
|
NM_012210.4(TRIM32):c.1874C>T (p.Thr625Ile)
|
rs1861074314
|
|
NM_012210.4(TRIM32):c.1879A>G (p.Lys627Glu)
|
|
|
NM_012210.4(TRIM32):c.1885C>T (p.Gln629Ter)
|
|
|
NM_012210.4(TRIM32):c.1888C>G (p.Leu630Val)
|
|
|
NM_012210.4(TRIM32):c.1888C>T (p.Leu630=)
|
|
|
NM_012210.4(TRIM32):c.188T>C (p.Phe63Ser)
|
rs1860952573
|
|
NM_012210.4(TRIM32):c.1893G>A (p.Leu631=)
|
|
|
NM_012210.4(TRIM32):c.1899G>A (p.Leu633=)
|
|
|
NM_012210.4(TRIM32):c.190del (p.Cys64fs)
|
|
|
NM_012210.4(TRIM32):c.1932C>T (p.Ser644=)
|
|
|
NM_012210.4(TRIM32):c.1934A>G (p.Tyr645Cys)
|
rs1861076438
|
|
NM_012210.4(TRIM32):c.1948T>C (p.Tyr650His)
|
rs1861077008
|
|
NM_012210.4(TRIM32):c.1950T>C (p.Tyr650=)
|
rs1273018123
|
|
NM_012210.4(TRIM32):c.1951T>C (p.Ser651Pro)
|
rs1402865703
|
|
NM_012210.4(TRIM32):c.1955C>T (p.Thr652Ile)
|
rs2132076367
|
|
NM_012210.4(TRIM32):c.201del (p.Thr68fs)
|
|
|
NM_012210.4(TRIM32):c.20C>T (p.Ser7Phe)
|
|
|
NM_012210.4(TRIM32):c.213C>T (p.Thr71=)
|
rs2132070638
|
|
NM_012210.4(TRIM32):c.216C>T (p.Ser72=)
|
rs1860954629
|
|
NM_012210.4(TRIM32):c.217T>C (p.Leu73=)
|
|
|
NM_012210.4(TRIM32):c.21T>A (p.Ser7=)
|
|
|
NM_012210.4(TRIM32):c.222C>T (p.Thr74=)
|
|
|
NM_012210.4(TRIM32):c.232G>A (p.Asp78Asn)
|
rs1252982308
|
|
NM_012210.4(TRIM32):c.232_235del (p.Asp78fs)
|
|
|
NM_012210.4(TRIM32):c.236A>T (p.Asn79Ile)
|
|
|
NM_012210.4(TRIM32):c.240G>C (p.Leu80=)
|
|
|
NM_012210.4(TRIM32):c.242C>T (p.Thr81Ile)
|
|
|
NM_012210.4(TRIM32):c.243A>G (p.Thr81=)
|
|
|
NM_012210.4(TRIM32):c.244G>A (p.Val82Met)
|
rs1167389328
|
|
NM_012210.4(TRIM32):c.246G>A (p.Val82=)
|
rs1418790890
|
|
NM_012210.4(TRIM32):c.249A>C (p.Leu83=)
|
|
|
NM_012210.4(TRIM32):c.251A>T (p.Lys84Met)
|
|
|
NM_012210.4(TRIM32):c.267T>C (p.Ala89=)
|
|
|
NM_012210.4(TRIM32):c.276C>A (p.Ser92Arg)
|
rs140589523
|
|
NM_012210.4(TRIM32):c.279G>A (p.Glu93=)
|
rs1189793134
|
|
NM_012210.4(TRIM32):c.27G>A (p.Leu9=)
|
|
|
NM_012210.4(TRIM32):c.27G>T (p.Leu9=)
|
|
|
NM_012210.4(TRIM32):c.280G>A (p.Ala94Thr)
|
rs1231169096
|
|
NM_012210.4(TRIM32):c.281C>T (p.Ala94Val)
|
rs997358002
|
|
NM_012210.4(TRIM32):c.316C>T (p.Arg106Cys)
|
rs1390593037
|
|
NM_012210.4(TRIM32):c.317G>A (p.Arg106His)
|
rs760730435
|
|
NM_012210.4(TRIM32):c.319C>G (p.Leu107Val)
|
rs886042410
|
|
NM_012210.4(TRIM32):c.319C>T (p.Leu107=)
|
rs886042410
|
|
NM_012210.4(TRIM32):c.324C>T (p.Pro108=)
|
|
|
NM_012210.4(TRIM32):c.338G>A (p.Arg113Gln)
|
|
|
NM_012210.4(TRIM32):c.341G>A (p.Ser114Asn)
|
rs192516080
|
|
NM_012210.4(TRIM32):c.341del (p.Ser114fs)
|
|
|
NM_012210.4(TRIM32):c.347G>A (p.Gly116Asp)
|
rs767024504
|
|
NM_012210.4(TRIM32):c.351G>A (p.Leu117=)
|
|
|
NM_012210.4(TRIM32):c.363G>A (p.Glu121=)
|
|
|
NM_012210.4(TRIM32):c.369C>T (p.Cys123=)
|
|
|
NM_012210.4(TRIM32):c.378A>G (p.Ala126=)
|
rs1860970214
|
|
NM_012210.4(TRIM32):c.381C>G (p.Asp127Glu)
|
|
|
NM_012210.4(TRIM32):c.387G>A (p.Gln129=)
|
rs748208744
|
|
NM_012210.4(TRIM32):c.389C>T (p.Pro130Leu)
|
|
|
NM_012210.4(TRIM32):c.398A>G (p.His133Arg)
|
rs1860971813
|
|
NM_012210.4(TRIM32):c.408C>A (p.Leu136=)
|
rs2132071452
|
|
NM_012210.4(TRIM32):c.40C>T (p.Leu14Phe)
|
rs756350336
|
|
NM_012210.4(TRIM32):c.410C>T (p.Pro137Leu)
|
|
|
NM_012210.4(TRIM32):c.413T>G (p.Val138Gly)
|
rs918796736
|
|
NM_012210.4(TRIM32):c.422C>A (p.Ala141Glu)
|
rs930137730
|
|
NM_012210.4(TRIM32):c.423A>G (p.Ala141=)
|
|
|
NM_012210.4(TRIM32):c.426T>C (p.Ala142=)
|
rs2132071526
|
|
NM_012210.4(TRIM32):c.42C>A (p.Leu14=)
|
|
|
NM_012210.4(TRIM32):c.433C>A (p.Arg145=)
|
rs763720824
|
|
NM_012210.4(TRIM32):c.437G>A (p.Arg146His)
|
rs1473368288
|
|
NM_012210.4(TRIM32):c.442G>C (p.Asp148His)
|
|
|
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)
|
rs749696299
|
|
NM_012210.4(TRIM32):c.464G>C (p.Arg155Pro)
|
rs777914761
|
|
NM_012210.4(TRIM32):c.468G>C (p.Leu156=)
|
|
|
NM_012210.4(TRIM32):c.468G>T (p.Leu156=)
|
|
|
NM_012210.4(TRIM32):c.469C>T (p.Arg157Trp)
|
|
|
NM_012210.4(TRIM32):c.471G>A (p.Arg157=)
|
|
|
NM_012210.4(TRIM32):c.476_477dup (p.Met160fs)
|
rs2132071763
|
|
NM_012210.4(TRIM32):c.479T>C (p.Met160Thr)
|
rs199699832
|
|
NM_012210.4(TRIM32):c.479T>G (p.Met160Arg)
|
rs199699832
|
|
NM_012210.4(TRIM32):c.480G>C (p.Met160Ile)
|
rs200196832
|
|
NM_012210.4(TRIM32):c.484del (p.Glu162fs)
|
|
|
NM_012210.4(TRIM32):c.485A>G (p.Glu162Gly)
|
rs1018629963
|
|
NM_012210.4(TRIM32):c.494G>A (p.Arg165Gln)
|
rs761591526
|
|
NM_012210.4(TRIM32):c.498del (p.Lys167fs)
|
|
|
NM_012210.4(TRIM32):c.510G>A (p.Leu170=)
|
|
|
NM_012210.4(TRIM32):c.516T>G (p.Gly172=)
|
rs753234105
|
|
NM_012210.4(TRIM32):c.540G>A (p.Arg180=)
|
rs2132072067
|
|
NM_012210.4(TRIM32):c.542_543insAAAGGTA (p.Tyr181Ter)
|
rs2132072043
|
|
NM_012210.4(TRIM32):c.564T>C (p.Tyr188=)
|
|
|
NM_012210.4(TRIM32):c.567G>C (p.Gly189=)
|
|
|
NM_012210.4(TRIM32):c.56A>C (p.Glu19Ala)
|
|
|
NM_012210.4(TRIM32):c.572A>G (p.Glu191Gly)
|
rs2132072188
|
|
NM_012210.4(TRIM32):c.57A>G (p.Glu19=)
|
|
|
NM_012210.4(TRIM32):c.583G>T (p.Val195Phe)
|
|
|
NM_012210.4(TRIM32):c.590A>G (p.Asp197Gly)
|
|
|
NM_012210.4(TRIM32):c.597G>A (p.Leu199=)
|
|
|
NM_012210.4(TRIM32):c.601C>G (p.Arg201Gly)
|
rs147304059
|
|
NM_012210.4(TRIM32):c.601C>T (p.Arg201Cys)
|
rs147304059
|
|
NM_012210.4(TRIM32):c.603C>A (p.Arg201=)
|
rs767937527
|
|
NM_012210.4(TRIM32):c.606_607del (p.Arg203fs)
|
rs2132072315
|
|
NM_012210.4(TRIM32):c.608G>A (p.Arg203Gln)
|
|
|
NM_012210.4(TRIM32):c.609G>T (p.Arg203=)
|
rs2132072344
|
|
NM_012210.4(TRIM32):c.621A>C (p.Thr207=)
|
|
|
NM_012210.4(TRIM32):c.624C>A (p.Gly208=)
|
|
|
NM_012210.4(TRIM32):c.624C>T (p.Gly208=)
|
|
|
NM_012210.4(TRIM32):c.633T>C (p.Ala211=)
|
rs753960738
|
|
NM_012210.4(TRIM32):c.638T>G (p.Val213Gly)
|
rs1860990982
|
|
NM_012210.4(TRIM32):c.654T>C (p.Ser218=)
|
|
|
NM_012210.4(TRIM32):c.660G>A (p.Val220=)
|
rs3747833
|
|
NM_012210.4(TRIM32):c.660G>C (p.Val220=)
|
rs3747833
|
|
NM_012210.4(TRIM32):c.661G>A (p.Val221Ile)
|
|
|
NM_012210.4(TRIM32):c.663A>C (p.Val221=)
|
|
|
NM_012210.4(TRIM32):c.666G>A (p.Glu222=)
|
|
|
NM_012210.4(TRIM32):c.682C>T (p.Leu228Phe)
|
rs1860993761
|
|
NM_012210.4(TRIM32):c.697G>T (p.Val233Leu)
|
rs747723402
|
|
NM_012210.4(TRIM32):c.699G>T (p.Val233=)
|
rs1057521228
|
|
NM_012210.4(TRIM32):c.699_700delinsCT (p.Gln234Ter)
|
|
|
NM_012210.4(TRIM32):c.700C>A (p.Gln234Lys)
|
rs886043553
|
|
NM_012210.4(TRIM32):c.706G>A (p.Val236Met)
|
|
|
NM_012210.4(TRIM32):c.710_712del (p.Ser237_Arg238delinsCys)
|
|
|
NM_012210.4(TRIM32):c.713G>T (p.Arg238Leu)
|
rs564290779
|
|
NM_012210.4(TRIM32):c.723C>T (p.Tyr241=)
|
|
|
NM_012210.4(TRIM32):c.735G>A (p.Lys245=)
|
|
|
NM_012210.4(TRIM32):c.735G>T (p.Lys245Asn)
|
|
|
NM_012210.4(TRIM32):c.739A>G (p.Lys247Glu)
|
rs2132072729
|
|
NM_012210.4(TRIM32):c.741_745dup (p.Ala249fs)
|
|
|
NM_012210.4(TRIM32):c.744G>A (p.Gln248=)
|
rs750466433
|
|
NM_012210.4(TRIM32):c.750T>G (p.Asp250Glu)
|
|
|
NM_012210.4(TRIM32):c.753A>C (p.Val251=)
|
|
|
NM_012210.4(TRIM32):c.756A>T (p.Ala252=)
|
|
|
NM_012210.4(TRIM32):c.758del (p.Leu253fs)
|
rs1861000401
|
|
NM_012210.4(TRIM32):c.75G>C (p.Glu25Asp)
|
rs1262596490
|
|
NM_012210.4(TRIM32):c.763G>T (p.Glu255Ter)
|
|
|
NM_012210.4(TRIM32):c.769A>C (p.Thr257Pro)
|
rs2132072833
|
|
NM_012210.4(TRIM32):c.770C>T (p.Thr257Ile)
|
|
|
NM_012210.4(TRIM32):c.777T>C (p.Asp259=)
|
rs2132072865
|
|
NM_012210.4(TRIM32):c.778GAG[2] (p.Glu262del)
|
rs545471341
|
|
NM_012210.4(TRIM32):c.780G>A (p.Glu260=)
|
|
|
NM_012210.4(TRIM32):c.792G>A (p.Glu264=)
|
|
|
NM_012210.4(TRIM32):c.798T>G (p.Thr266=)
|
rs1588216749
|
|
NM_012210.4(TRIM32):c.810T>C (p.Pro270=)
|
|
|
NM_012210.4(TRIM32):c.811C>G (p.Arg271Gly)
|
rs372298402
|
|
NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp)
|
rs372298402
|
|
NM_012210.4(TRIM32):c.822C>A (p.Thr274=)
|
|
|
NM_012210.4(TRIM32):c.825G>A (p.Leu275=)
|
|
|
NM_012210.4(TRIM32):c.826C>T (p.Gln276Ter)
|
|
|
NM_012210.4(TRIM32):c.827A>C (p.Gln276Pro)
|
|
|
NM_012210.4(TRIM32):c.836A>T (p.Glu279Val)
|
|
|
NM_012210.4(TRIM32):c.842T>C (p.Leu281Pro)
|
rs1861006758
|
|
NM_012210.4(TRIM32):c.843T>C (p.Leu281=)
|
|
|
NM_012210.4(TRIM32):c.846G>A (p.Lys282=)
|
|
|
NM_012210.4(TRIM32):c.851G>A (p.Gly284Asp)
|
rs1861007449
|
|
NM_012210.4(TRIM32):c.855T>C (p.His285=)
|
rs1290656615
|
|
NM_012210.4(TRIM32):c.856G>A (p.Val286Ile)
|
rs776918693
|
|
NM_012210.4(TRIM32):c.863C>T (p.Pro288Leu)
|
|
|
NM_012210.4(TRIM32):c.867C>T (p.Leu289=)
|
|
|
NM_012210.4(TRIM32):c.868C>T (p.Gln290Ter)
|
rs1272966742
|
|
NM_012210.4(TRIM32):c.873T>G (p.Ile291Met)
|
rs766687896
|
|
NM_012210.4(TRIM32):c.875G>A (p.Gly292Glu)
|
rs1554732992
|
|
NM_012210.4(TRIM32):c.883G>T (p.Val295Phe)
|
rs1554732997
|
|
NM_012210.4(TRIM32):c.885del (p.Lys296fs)
|
|
|
NM_012210.4(TRIM32):c.893C>T (p.Pro298Leu)
|
rs2132073313
|
|
NM_012210.4(TRIM32):c.894C>G (p.Pro298=)
|
|
|
NM_012210.4(TRIM32):c.900A>G (p.Thr300=)
|
|
|
NM_012210.4(TRIM32):c.901G>A (p.Val301Ile)
|
rs1490242765
|
|
NM_012210.4(TRIM32):c.906C>T (p.Asn302=)
|
|
|
NM_012210.4(TRIM32):c.909G>C (p.Val303=)
|
|
|
NM_012210.4(TRIM32):c.915T>C (p.Asp305=)
|
|
|
NM_012210.4(TRIM32):c.920G>A (p.Trp307Ter)
|
|
|
NM_012210.4(TRIM32):c.921G>A (p.Trp307Ter)
|
|
|
NM_012210.4(TRIM32):c.924C>A (p.Ala308=)
|
|
|
NM_012210.4(TRIM32):c.925A>G (p.Met309Val)
|
rs1861013304
|
|
NM_012210.4(TRIM32):c.925A>T (p.Met309Leu)
|
rs1861013304
|
|
NM_012210.4(TRIM32):c.926T>C (p.Met309Thr)
|
|
|
NM_012210.4(TRIM32):c.928G>T (p.Glu310Ter)
|
|
|
NM_012210.4(TRIM32):c.933C>T (p.Ala311=)
|
rs2132073435
|
|
NM_012210.4(TRIM32):c.936A>G (p.Thr312=)
|
|
|
NM_012210.4(TRIM32):c.939G>A (p.Ala313=)
|
rs375442860
|
|
NM_012210.4(TRIM32):c.939G>T (p.Ala313=)
|
rs375442860
|
|
NM_012210.4(TRIM32):c.941C>T (p.Ser314Phe)
|
|
|
NM_012210.4(TRIM32):c.957T>C (p.Ser319=)
|
|
|
NM_012210.4(TRIM32):c.963T>G (p.Thr321=)
|
|
|
NM_012210.4(TRIM32):c.972G>A (p.Glu324=)
|
rs904444090
|
|
NM_012210.4(TRIM32):c.973A>T (p.Met325Leu)
|
|
|
NM_012210.4(TRIM32):c.981G>A (p.Met327Ile)
|
|
|
NM_012210.4(TRIM32):c.986C>G (p.Pro329Arg)
|
rs377510422
|
|
NM_012210.4(TRIM32):c.991_992delinsTT (p.Glu331Leu)
|
rs2132073592
|
|
NM_015910.7(WDPCP):c.1023C>G (p.Ile341Met)
|
rs2105191115
|
|
NM_015910.7(WDPCP):c.1028G>A (p.Cys343Tyr)
|
rs755715881
|
|
NM_015910.7(WDPCP):c.102G>A (p.Met34Ile)
|
rs1233974354
|
|
NM_015910.7(WDPCP):c.1038T>C (p.Asn346=)
|
|
|
NM_015910.7(WDPCP):c.1044T>C (p.Thr348=)
|
|
|
NM_015910.7(WDPCP):c.1053A>C (p.Lys351Asn)
|
|
|
NM_015910.7(WDPCP):c.1068T>C (p.Cys356=)
|
rs2105190318
|
|
NM_015910.7(WDPCP):c.1080G>A (p.Ser360=)
|
rs376164426
|
|
NM_015910.7(WDPCP):c.1081C>G (p.Leu361Val)
|
|
|
NM_015910.7(WDPCP):c.10G>A (p.Glu4Lys)
|
rs763789574
|
|
NM_015910.7(WDPCP):c.1108G>C (p.Val370Leu)
|
|
|
NM_015910.7(WDPCP):c.1116C>T (p.Leu372=)
|
rs1197964654
|
|
NM_015910.7(WDPCP):c.1156C>T (p.His386Tyr)
|
|
|
NM_015910.7(WDPCP):c.1166G>A (p.Gly389Asp)
|
rs1575343526
|
|
NM_015910.7(WDPCP):c.1180G>C (p.Val394Leu)
|
rs1694385958
|
|
NM_015910.7(WDPCP):c.1181T>C (p.Val394Ala)
|
|
|
NM_015910.7(WDPCP):c.1197G>A (p.Gly399=)
|
|
|
NM_015910.7(WDPCP):c.1198del (p.Glu400fs)
|
|
|
NM_015910.7(WDPCP):c.1203G>A (p.Leu401=)
|
|
|
NM_015910.7(WDPCP):c.1227C>A (p.Ser409=)
|
|
|
NM_015910.7(WDPCP):c.1227C>T (p.Ser409=)
|
rs1358121754
|
|
NM_015910.7(WDPCP):c.1231A>G (p.Ile411Val)
|
|
|
NM_015910.7(WDPCP):c.1237A>G (p.Ile413Val)
|
rs1694378572
|
|
NM_015910.7(WDPCP):c.1238T>G (p.Ile413Ser)
|
rs952405240
|
|
NM_015910.7(WDPCP):c.123G>A (p.Leu41=)
|
rs779322047
|
|
NM_015910.7(WDPCP):c.1245G>C (p.Leu415=)
|
|
|
NM_015910.7(WDPCP):c.1295T>C (p.Phe432Ser)
|
|
|
NM_015910.7(WDPCP):c.1297G>T (p.Asp433Tyr)
|
|
|
NM_015910.7(WDPCP):c.130T>C (p.Trp44Arg)
|
rs1280928455
|
|
NM_015910.7(WDPCP):c.1322T>C (p.Met441Thr)
|
rs886056224
|
|
NM_015910.7(WDPCP):c.133T>G (p.Ser45Ala)
|
rs1232978776
|
|
NM_015910.7(WDPCP):c.1340A>G (p.Gln447Arg)
|
rs2105185377
|
|
NM_015910.7(WDPCP):c.1342del (p.Val448fs)
|
|
|
NM_015910.7(WDPCP):c.1347_1348del (p.Gln451fs)
|
rs1694365826
|
|
NM_015910.7(WDPCP):c.1356G>T (p.Lys452Asn)
|
rs372258764
|
|
NM_015910.7(WDPCP):c.1358G>T (p.Gly453Val)
|
|
|
NM_015910.7(WDPCP):c.1360G>T (p.Glu454Ter)
|
|
|
NM_015910.7(WDPCP):c.1373T>C (p.Ile458Thr)
|
rs2105184946
|
|
NM_015910.7(WDPCP):c.1377T>C (p.Tyr459=)
|
|
|
NM_015910.7(WDPCP):c.1383C>T (p.Leu461=)
|
rs1480092104
|
|
NM_015910.7(WDPCP):c.1415G>A (p.Gly472Asp)
|
rs1694358624
|
|
NM_015910.7(WDPCP):c.1419_1420del (p.Leu474fs)
|
rs1281918775
|
|
NM_015910.7(WDPCP):c.1421T>C (p.Leu474Pro)
|
rs1575342542
|
|
NM_015910.7(WDPCP):c.1435+12A>G
|
rs752729656
|
|
NM_015910.7(WDPCP):c.1435+18A>G
|
rs777055382
|
|
NM_015910.7(WDPCP):c.1435+18A>T
|
|
|
NM_015910.7(WDPCP):c.1435+4A>C
|
rs1694355240
|
|
NM_015910.7(WDPCP):c.1436-14A>G
|
|
|
NM_015910.7(WDPCP):c.1436-1G>C
|
rs959923850
|
|
NM_015910.7(WDPCP):c.1436-5G>A
|
rs1692362842
|
|
NM_015910.7(WDPCP):c.1437C>T (p.Gly479=)
|
|
|
NM_015910.7(WDPCP):c.144T>C (p.Asn48=)
|
|
|
NM_015910.7(WDPCP):c.1452A>C (p.Gly484=)
|
|
|
NM_015910.7(WDPCP):c.1456C>T (p.Leu486=)
|
|
|
NM_015910.7(WDPCP):c.1457T>C (p.Leu486Pro)
|
rs2104901919
|
|
NM_015910.7(WDPCP):c.1470C>T (p.Asp490=)
|
rs745681296
|
|
NM_015910.7(WDPCP):c.1471A>G (p.Ile491Val)
|
rs1160883774
|
|
NM_015910.7(WDPCP):c.1488T>C (p.Ile496=)
|
rs2104901376
|
|
NM_015910.7(WDPCP):c.1491C>G (p.His497Gln)
|
rs577571642
|
|
NM_015910.7(WDPCP):c.1518C>T (p.Asn506=)
|
|
|
NM_015910.7(WDPCP):c.1519A>T (p.Ile507Phe)
|
rs754985173
|
|
NM_015910.7(WDPCP):c.1527C>A (p.Ser509Arg)
|
|
|
NM_015910.7(WDPCP):c.1530C>A (p.Ser510Arg)
|
rs1417068972
|
|
NM_015910.7(WDPCP):c.1533G>A (p.Met511Ile)
|
rs2104900509
|
|
NM_015910.7(WDPCP):c.1538G>C (p.Trp513Ser)
|
rs2104900470
|
|
NM_015910.7(WDPCP):c.1547T>A (p.Leu516Gln)
|
rs1692348691
|
|
NM_015910.7(WDPCP):c.154A>G (p.Ile52Val)
|
|
|
NM_015910.7(WDPCP):c.1559G>A (p.Cys520Tyr)
|
rs1692347777
|
|
NM_015910.7(WDPCP):c.1566C>T (p.Ile522=)
|
|
|
NM_015910.7(WDPCP):c.1574G>A (p.Ser525Asn)
|
|
|
NM_015910.7(WDPCP):c.1578C>T (p.Ala526=)
|
rs1692345418
|
|
NM_015910.7(WDPCP):c.1591CTT[1] (p.Leu532del)
|
rs748711953
|
|
NM_015910.7(WDPCP):c.160+20A>T
|
rs2105950775
|
|
NM_015910.7(WDPCP):c.1608C>T (p.Leu536=)
|
|
|
NM_015910.7(WDPCP):c.161-1G>C
|
|
|
NM_015910.7(WDPCP):c.1625-12T>G
|
rs1014640074
|
|
NM_015910.7(WDPCP):c.1625-3C>T
|
rs1692041154
|
|
NM_015910.7(WDPCP):c.1650C>T (p.Thr550=)
|
rs2104859059
|
|
NM_015910.7(WDPCP):c.1651T>G (p.Phe551Val)
|
rs992864301
|
|
NM_015910.7(WDPCP):c.1652T>G (p.Phe551Cys)
|
rs1333720503
|
|
NM_015910.7(WDPCP):c.1655A>G (p.Tyr552Cys)
|
|
|
NM_015910.7(WDPCP):c.1676T>C (p.Leu559Pro)
|
rs2104858625
|
|
NM_015910.7(WDPCP):c.1690T>C (p.Leu564=)
|
|
|
NM_015910.7(WDPCP):c.1703A>C (p.Asp568Ala)
|
|
|
NM_015910.7(WDPCP):c.1703A>T (p.Asp568Val)
|
|
|
NM_015910.7(WDPCP):c.1715A>C (p.Lys572Thr)
|
|
|
NM_015910.7(WDPCP):c.1727_1728del (p.Arg576fs)
|
|
|
NM_015910.7(WDPCP):c.172G>A (p.Gly58Arg)
|
rs190629484
|
|
NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu)
|
rs778132438
|
|
NM_015910.7(WDPCP):c.1731C>T (p.Phe577=)
|
rs778132438
|
|
NM_015910.7(WDPCP):c.1736A>C (p.His579Pro)
|
|
|
NM_015910.7(WDPCP):c.1748+17G>A
|
rs2104857132
|
|
NM_015910.7(WDPCP):c.1748+18A>G
|
rs2104857099
|
|
NM_015910.7(WDPCP):c.1748+3G>C
|
rs2104857373
|
|
NM_015910.7(WDPCP):c.1749-12del
|
|
|
NM_015910.7(WDPCP):c.1749-19A>G
|
|
|
NM_015910.7(WDPCP):c.1749-21_1749-19del
|
rs1374121530
|
|
NM_015910.7(WDPCP):c.1749-5T>G
|
|
|
NM_015910.7(WDPCP):c.1751_1773del (p.Tyr584fs)
|
rs2103954534
|
|
NM_015910.7(WDPCP):c.1758G>A (p.Arg586=)
|
rs1317461178
|
|
NM_015910.7(WDPCP):c.1796C>T (p.Ala599Val)
|
|
|
NM_015910.7(WDPCP):c.1798C>G (p.Arg600Gly)
|
rs747517141
|
|
NM_015910.7(WDPCP):c.1799G>C (p.Arg600Pro)
|
|
|
NM_015910.7(WDPCP):c.1799del (p.Arg600fs)
|
|
|
NM_015910.7(WDPCP):c.1812+19T>G
|
|
|
NM_015910.7(WDPCP):c.1812+20G>A
|
|
|
NM_015910.7(WDPCP):c.1812+3G>A
|
|
|
NM_015910.7(WDPCP):c.1813-11T>C
|
rs2104772785
|
|
NM_015910.7(WDPCP):c.1813-2A>T
|
rs2104772718
|
|
NM_015910.7(WDPCP):c.1813-3C>T
|
rs772639117
|
|
NM_015910.7(WDPCP):c.1813-5C>G
|
rs1681422817
|
|
NM_015910.7(WDPCP):c.1813-5C>T
|
|
|
NM_015910.7(WDPCP):c.1817T>G (p.Ile606Ser)
|
|
|
NM_015910.7(WDPCP):c.1818T>G (p.Ile606Met)
|
|
|
NM_015910.7(WDPCP):c.181C>A (p.Gln61Lys)
|
|
|
NM_015910.7(WDPCP):c.1827T>A (p.Leu609=)
|
|
|
NM_015910.7(WDPCP):c.1846T>A (p.Leu616Met)
|
rs779790542
|
|
NM_015910.7(WDPCP):c.1846T>C (p.Leu616=)
|
|
|
NM_015910.7(WDPCP):c.1849G>A (p.Ala617Thr)
|
rs765912876
|
|
NM_015910.7(WDPCP):c.1872_1875dup (p.Ala626fs)
|
rs1681413798
|
|
NM_015910.7(WDPCP):c.187T>G (p.Tyr63Asp)
|
|
|
NM_015910.7(WDPCP):c.1882G>A (p.Asp628Asn)
|
|
|
NM_015910.7(WDPCP):c.1910_1913del (p.Gly637fs)
|
rs2104771725
|
|
NM_015910.7(WDPCP):c.1915+2del
|
|
|
NM_015910.7(WDPCP):c.1915+3A>C
|
rs2104771665
|
|
NM_015910.7(WDPCP):c.1916-21_1916-20del
|
rs1672121339
|
|
NM_015910.7(WDPCP):c.1916-2A>G
|
rs763299856
|
|
NM_015910.7(WDPCP):c.1922T>G (p.Leu641Arg)
|
rs1673680183
|
|
NM_015910.7(WDPCP):c.1942G>T (p.Asp648Tyr)
|
|
|
NM_015910.7(WDPCP):c.1945A>G (p.Met649Val)
|
rs759281211
|
|
NM_015910.7(WDPCP):c.1968C>G (p.Gly656=)
|
rs746538391
|
|
NM_015910.7(WDPCP):c.1970T>C (p.Leu657Pro)
|
|
|
NM_015910.7(WDPCP):c.1971G>C (p.Leu657=)
|
|
|
NM_015910.7(WDPCP):c.1991A>T (p.Glu664Val)
|
|
|
NM_015910.7(WDPCP):c.1A>C (p.Met1Leu)
|
|
|
NM_015910.7(WDPCP):c.2001T>G (p.Phe667Leu)
|
|
|
NM_015910.7(WDPCP):c.2017C>T (p.Pro673Ser)
|
|
|
NM_015910.7(WDPCP):c.2031C>A (p.Thr677=)
|
|
|
NM_015910.7(WDPCP):c.2051A>G (p.Gln684Arg)
|
|
|
NM_015910.7(WDPCP):c.2078+18G>A
|
|
|
NM_015910.7(WDPCP):c.2078+8A>G
|
|
|
NM_015910.7(WDPCP):c.2078G>T (p.Arg693Ile)
|
|
|
NM_015910.7(WDPCP):c.2079-3C>T
|
|
|
NM_015910.7(WDPCP):c.2079-8T>C
|
rs201051851
|
|
NM_015910.7(WDPCP):c.2083A>G (p.Ile695Val)
|
|
|
NM_015910.7(WDPCP):c.2087T>C (p.Ile696Thr)
|
rs1672025805
|
|
NM_015910.7(WDPCP):c.2089G>C (p.Asp697His)
|
|
|
NM_015910.7(WDPCP):c.2102A>C (p.Glu701Ala)
|
|
|
NM_015910.7(WDPCP):c.2106T>G (p.Leu702=)
|
|
|
NM_015910.7(WDPCP):c.2107G>C (p.Glu703Gln)
|
|
|
NM_015910.7(WDPCP):c.2123C>A (p.Ser708Tyr)
|
rs1672022341
|
|
NM_015910.7(WDPCP):c.2125G>A (p.Gly709Arg)
|
rs1228276176
|
|
NM_015910.7(WDPCP):c.2158+14A>C
|
|
|
NM_015910.7(WDPCP):c.2159-20G>T
|
|
|
NM_015910.7(WDPCP):c.216G>A (p.Glu72=)
|
|
|
NM_015910.7(WDPCP):c.216del (p.Glu72fs)
|
|
|
NM_015910.7(WDPCP):c.2171G>C (p.Arg724Thr)
|
|
|
NM_015910.7(WDPCP):c.218A>G (p.His73Arg)
|
rs1481685257
|
|
NM_015910.7(WDPCP):c.2190+15C>A
|
|
|
NM_015910.7(WDPCP):c.2192A>T (p.Glu731Val)
|
rs1669577990
|
|
NM_015910.7(WDPCP):c.2211T>C (p.Ser737=)
|
rs1369325564
|
|
NM_015910.7(WDPCP):c.2230G>A (p.Gly744Ser)
|
rs1669575177
|
|
NM_015910.7(WDPCP):c.2235G>A (p.Leu745=)
|
|
|
NM_015910.7(WDPCP):c.227T>C (p.Leu76Ser)
|
|
|
NM_015910.7(WDPCP):c.242A>G (p.Lys81Arg)
|
rs545984327
|
|
NM_015910.7(WDPCP):c.24C>T (p.Asp8=)
|
rs548483405
|
|
NM_015910.7(WDPCP):c.252G>A (p.Glu84=)
|
rs201399904
|
|
NM_015910.7(WDPCP):c.253+17T>C
|
|
|
NM_015910.7(WDPCP):c.253+19T>G
|
|
|
NM_015910.7(WDPCP):c.253+1G>A
|
|
|
NM_015910.7(WDPCP):c.254-14G>A
|
|
|
NM_015910.7(WDPCP):c.254-20G>C
|
rs2105907834
|
|
NM_015910.7(WDPCP):c.26C>G (p.Ala9Gly)
|
rs2106583961
|
|
NM_015910.7(WDPCP):c.27C>G (p.Ala9=)
|
|
|
NM_015910.7(WDPCP):c.287G>A (p.Arg96His)
|
|
|
NM_015910.7(WDPCP):c.288C>T (p.Arg96=)
|
rs2105907324
|
|
NM_015910.7(WDPCP):c.296A>C (p.Lys99Thr)
|
rs772670414
|
|
NM_015910.7(WDPCP):c.296A>G (p.Lys99Arg)
|
|
|
NM_015910.7(WDPCP):c.29_31del (p.Tyr10del)
|
rs2106583906
|
|
NM_015910.7(WDPCP):c.304G>A (p.Asp102Asn)
|
|
|
NM_015910.7(WDPCP):c.313A>G (p.Lys105Glu)
|
rs2105907063
|
|
NM_015910.7(WDPCP):c.324+15_324+24del
|
|
|
NM_015910.7(WDPCP):c.324+6T>C
|
rs1700475057
|
|
NM_015910.7(WDPCP):c.325-20C>G
|
|
|
NM_015910.7(WDPCP):c.325-26CT[3]
|
|
|
NM_015910.7(WDPCP):c.325-5T>C
|
|
|
NM_015910.7(WDPCP):c.32C>T (p.Ser11Phe)
|
|
|
NM_015910.7(WDPCP):c.335A>G (p.Gln112Arg)
|
|
|
NM_015910.7(WDPCP):c.340dup (p.Ser114fs)
|
|
|
NM_015910.7(WDPCP):c.344G>A (p.Arg115Gln)
|
rs748871007
|
|
NM_015910.7(WDPCP):c.346T>G (p.Cys116Gly)
|
|
|
NM_015910.7(WDPCP):c.375T>C (p.Tyr125=)
|
rs1303422628
|
|
NM_015910.7(WDPCP):c.384+19C>T
|
|
|
NM_015910.7(WDPCP):c.385-11C>T
|
|
|
NM_015910.7(WDPCP):c.385-16A>G
|
|
|
NM_015910.7(WDPCP):c.385-17C>A
|
rs183208705
|
|
NM_015910.7(WDPCP):c.385-17C>G
|
rs183208705
|
|
NM_015910.7(WDPCP):c.385-17C>T
|
rs183208705
|
|
NM_015910.7(WDPCP):c.385-18C>T
|
|
|
NM_015910.7(WDPCP):c.385-3T>C
|
rs2105522569
|
|
NM_015910.7(WDPCP):c.385-3del
|
rs559429215
|
|
NM_015910.7(WDPCP):c.394G>C (p.Gly132Arg)
|
rs1697389440
|
|
NM_015910.7(WDPCP):c.396T>C (p.Gly132=)
|
|
|
NM_015910.7(WDPCP):c.428G>A (p.Gly143Glu)
|
rs1697385242
|
|
NM_015910.7(WDPCP):c.42C>T (p.Ala14=)
|
|
|
NM_015910.7(WDPCP):c.432G>A (p.Pro144=)
|
rs375615054
|
|
NM_015910.7(WDPCP):c.440A>G (p.Glu147Gly)
|
|
|
NM_015910.7(WDPCP):c.442A>G (p.Lys148Glu)
|
rs373247460
|
|
NM_015910.7(WDPCP):c.452T>C (p.Ile151Thr)
|
|
|
NM_015910.7(WDPCP):c.45G>T (p.Gly15=)
|
rs1003414023
|
|
NM_015910.7(WDPCP):c.467T>G (p.Val156Gly)
|
|
|
NM_015910.7(WDPCP):c.473A>G (p.Lys158Arg)
|
|
|
NM_015910.7(WDPCP):c.477C>T (p.Leu159=)
|
rs774300078
|
|
NM_015910.7(WDPCP):c.47G>A (p.Ser16Asn)
|
rs1709010736
|
|
NM_015910.7(WDPCP):c.489C>G (p.Thr163=)
|
rs1357358501
|
|
NM_015910.7(WDPCP):c.489C>T (p.Thr163=)
|
|
|
NM_015910.7(WDPCP):c.493A>G (p.Ser165Gly)
|
|
|
NM_015910.7(WDPCP):c.499+3A>G
|
|
|
NM_015910.7(WDPCP):c.500-17_500-13del
|
|
|
NM_015910.7(WDPCP):c.512_515del (p.Asp171fs)
|
|
|
NM_015910.7(WDPCP):c.514A>C (p.Ser172Arg)
|
|
|
NM_015910.7(WDPCP):c.52G>C (p.Ala18Pro)
|
rs1381507084
|
|
NM_015910.7(WDPCP):c.531A>G (p.Ser177=)
|
rs2105501110
|
|
NM_015910.7(WDPCP):c.535T>G (p.Leu179Val)
|
|
|
NM_015910.7(WDPCP):c.53C>T (p.Ala18Val)
|
|
|
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)
|
rs2105500878
|
|
NM_015910.7(WDPCP):c.549A>T (p.Lys183Asn)
|
rs1697214336
|
|
NM_015910.7(WDPCP):c.551T>C (p.Leu184Pro)
|
rs1198983391
|
|
NM_015910.7(WDPCP):c.597C>T (p.Asn199=)
|
|
|
NM_015910.7(WDPCP):c.5G>A (p.Arg2Lys)
|
|
|
NM_015910.7(WDPCP):c.60C>T (p.Ser20=)
|
|
|
NM_015910.7(WDPCP):c.620C>G (p.Ala207Gly)
|
|
|
NM_015910.7(WDPCP):c.629A>G (p.Tyr210Cys)
|
rs1697208498
|
|
NM_015910.7(WDPCP):c.633+16T>C
|
|
|
NM_015910.7(WDPCP):c.633+17A>T
|
rs373456348
|
|
NM_015910.7(WDPCP):c.633+2T>C
|
rs765356177
|
|
NM_015910.7(WDPCP):c.634-7T>G
|
|
|
NM_015910.7(WDPCP):c.654C>A (p.Pro218=)
|
|
|
NM_015910.7(WDPCP):c.661A>G (p.Ile221Val)
|
rs571641878
|
|
NM_015910.7(WDPCP):c.66C>A (p.Leu22=)
|
|
|
NM_015910.7(WDPCP):c.66C>T (p.Leu22=)
|
rs2106583409
|
|
NM_015910.7(WDPCP):c.678G>A (p.Glu226=)
|
|
|
NM_015910.7(WDPCP):c.679C>T (p.Arg227Ter)
|
|
|
NM_015910.7(WDPCP):c.680G>A (p.Arg227Gln)
|
|
|
NM_015910.7(WDPCP):c.680_682del (p.Arg227del)
|
|
|
NM_015910.7(WDPCP):c.688G>T (p.Ala230Ser)
|
rs937072665
|
|
NM_015910.7(WDPCP):c.68C>G (p.Pro23Arg)
|
|
|
NM_015910.7(WDPCP):c.68C>T (p.Pro23Leu)
|
rs141340867
|
|
NM_015910.7(WDPCP):c.690T>A (p.Ala230=)
|
|
|
NM_015910.7(WDPCP):c.6G>A (p.Arg2=)
|
|
|
NM_015910.7(WDPCP):c.704A>C (p.His235Pro)
|
rs567879550
|
|
NM_015910.7(WDPCP):c.71G>A (p.Arg24Lys)
|
|
|
NM_015910.7(WDPCP):c.730C>G (p.Leu244Val)
|
rs1177072150
|
|
NM_015910.7(WDPCP):c.73C>A (p.Gln25Lys)
|
rs1324126661
|
|
NM_015910.7(WDPCP):c.75+11G>A
|
|
|
NM_015910.7(WDPCP):c.75+15G>A
|
|
|
NM_015910.7(WDPCP):c.75+1G>T
|
rs1486299333
|
|
NM_015910.7(WDPCP):c.75+3G>C
|
|
|
NM_015910.7(WDPCP):c.75+7C>A
|
|
|
NM_015910.7(WDPCP):c.755G>A (p.Trp252Ter)
|
rs2105466704
|
|
NM_015910.7(WDPCP):c.76-15_76-5del
|
rs780314107
|
|
NM_015910.7(WDPCP):c.76-19T>A
|
|
|
NM_015910.7(WDPCP):c.76-3C>T
|
rs1700986922
|
|
NM_015910.7(WDPCP):c.760_786del (p.Pro254_Ala262del)
|
rs774995085
|
|
NM_015910.7(WDPCP):c.763A>G (p.Ile255Val)
|
rs764485190
|
|
NM_015910.7(WDPCP):c.763A>T (p.Ile255Phe)
|
rs764485190
|
|
NM_015910.7(WDPCP):c.779A>T (p.Asp260Val)
|
rs2105466361
|
|
NM_015910.7(WDPCP):c.785C>T (p.Ala262Val)
|
|
|
NM_015910.7(WDPCP):c.792A>C (p.Leu264=)
|
rs1404820814
|
|
NM_015910.7(WDPCP):c.792A>G (p.Leu264=)
|
|
|
NM_015910.7(WDPCP):c.798C>G (p.Leu266=)
|
rs746884820
|
|
NM_015910.7(WDPCP):c.798C>T (p.Leu266=)
|
|
|
NM_015910.7(WDPCP):c.825+1G>A
|
|
|
NM_015910.7(WDPCP):c.826-14A>G
|
|
|
NM_015910.7(WDPCP):c.826-16A>G
|
|
|
NM_015910.7(WDPCP):c.826-20C>G
|
|
|
NM_015910.7(WDPCP):c.826-20C>T
|
|
|
NM_015910.7(WDPCP):c.826-5A>T
|
rs1694429108
|
|
NM_015910.7(WDPCP):c.826-9_826-6del
|
rs2105194923
|
|
NM_015910.7(WDPCP):c.831G>C (p.Leu277=)
|
rs863224423
|
|
NM_015910.7(WDPCP):c.845C>G (p.Thr282Arg)
|
rs1241185405
|
|
NM_015910.7(WDPCP):c.846A>G (p.Thr282=)
|
rs2105194260
|
|
NM_015910.7(WDPCP):c.852G>C (p.Trp284Cys)
|
rs2105194171
|
|
NM_015910.7(WDPCP):c.869G>A (p.Arg290His)
|
rs753480088
|
|
NM_015910.7(WDPCP):c.875G>T (p.Gly292Val)
|
|
|
NM_015910.7(WDPCP):c.921T>C (p.Ser307=)
|
rs1694416849
|
|
NM_015910.7(WDPCP):c.922G>A (p.Val308Ile)
|
rs2105192919
|
|
NM_015910.7(WDPCP):c.924A>C (p.Val308=)
|
|
|
NM_015910.7(WDPCP):c.924A>G (p.Val308=)
|
rs201844706
|
|
NM_015910.7(WDPCP):c.925_931del (p.Asp309fs)
|
|
|
NM_015910.7(WDPCP):c.928A>G (p.Lys310Glu)
|
|
|
NM_015910.7(WDPCP):c.945C>T (p.Asp315=)
|
|
|
NM_015910.7(WDPCP):c.955T>G (p.Tyr319Asp)
|
rs863224771
|
|
NM_015910.7(WDPCP):c.970A>T (p.Asn324Tyr)
|
|
|
NM_015910.7(WDPCP):c.99G>C (p.Gln33His)
|
|
|
NM_015910.7(WDPCP):c.9A>C (p.Arg3=)
|
|
|
NM_024649.5(BBS1):c.-3_37del (p.Met1fs)
|
rs113994178
|
|
NM_024649.5(BBS1):c.1006C>G (p.Leu336Val)
|
rs765494351
|
|
NM_024649.5(BBS1):c.1008G>A (p.Leu336=)
|
|
|
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter)
|
rs869025205
|
|
NM_024649.5(BBS1):c.1014G>A (p.Gln338=)
|
|
|
NM_024649.5(BBS1):c.1017T>C (p.His339=)
|
|
|
NM_024649.5(BBS1):c.1020_1021delinsGT (p.Arg341Trp)
|
|
|
NM_024649.5(BBS1):c.1025dup (p.Leu343fs)
|
rs2134797289
|
|
NM_024649.5(BBS1):c.1026C>T (p.Gly342=)
|
rs2134797305
|
|
NM_024649.5(BBS1):c.102C>A (p.Ile34=)
|
rs760081811
|
|
NM_024649.5(BBS1):c.102C>T (p.Ile34=)
|
rs760081811
|
|
NM_024649.5(BBS1):c.1033G>T (p.Ala345Ser)
|
|
|
NM_024649.5(BBS1):c.1035_1038del (p.Val346fs)
|
|
|
NM_024649.5(BBS1):c.1038C>A (p.Val346=)
|
|
|
NM_024649.5(BBS1):c.103dup (p.His35fs)
|
|
|
NM_024649.5(BBS1):c.1047G>A (p.Gly349=)
|
|
|
NM_024649.5(BBS1):c.1050G>A (p.Leu350=)
|
|
|
NM_024649.5(BBS1):c.105C>T (p.His35=)
|
|
|
NM_024649.5(BBS1):c.1062G>A (p.Glu354=)
|
rs773617456
|
|
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)
|
rs1057516533
|
|
NM_024649.5(BBS1):c.1075C>T (p.Arg359Cys)
|
|
|
NM_024649.5(BBS1):c.1076G>A (p.Arg359His)
|
|
|
NM_024649.5(BBS1):c.1076G>T (p.Arg359Leu)
|
rs147766972
|
|
NM_024649.5(BBS1):c.1086C>T (p.Ala362=)
|
|
|
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro)
|
rs540217506
|
|
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
|
|
|
NM_024649.5(BBS1):c.1106C>T (p.Thr369Ile)
|
|
|
NM_024649.5(BBS1):c.1107C>G (p.Thr369=)
|
|
|
NM_024649.5(BBS1):c.1107C>T (p.Thr369=)
|
rs2134797905
|
|
NM_024649.5(BBS1):c.1108C>T (p.Pro370Ser)
|
rs2134797927
|
|
NM_024649.5(BBS1):c.1110+10A>G
|
|
|
NM_024649.5(BBS1):c.1110+12C>A
|
|
|
NM_024649.5(BBS1):c.1110+13_1110+14del
|
|
|
NM_024649.5(BBS1):c.1110+14C>G
|
|
|
NM_024649.5(BBS1):c.1110+16G>A
|
|
|
NM_024649.5(BBS1):c.1110+19A>T
|
|
|
NM_024649.5(BBS1):c.1110+1G>C
|
rs2134797993
|
|
NM_024649.5(BBS1):c.1110+20T>A
|
rs1590767738
|
|
NM_024649.5(BBS1):c.1110+2T>C
|
|
|
NM_024649.5(BBS1):c.1110+2T>G
|
rs1565286223
|
|
NM_024649.5(BBS1):c.1110+3G>C
|
rs762276925
|
|
NM_024649.5(BBS1):c.1110+9C>T
|
|
|
NM_024649.5(BBS1):c.1111-10C>T
|
rs1856477734
|
|
NM_024649.5(BBS1):c.1111-17_1111-16del
|
|
|
NM_024649.5(BBS1):c.1111-18T>G
|
|
|
NM_024649.5(BBS1):c.1111-4A>G
|
|
|
NM_024649.5(BBS1):c.1111-5C>A
|
|
|
NM_024649.5(BBS1):c.1111-6A>G
|
|
|
NM_024649.5(BBS1):c.1111-6A>T
|
|
|
NM_024649.5(BBS1):c.1111-8C>T
|
rs2134809182
|
|
NM_024649.5(BBS1):c.1112A>G (p.Asp371Gly)
|
|
|
NM_024649.5(BBS1):c.1113T>C (p.Asp371=)
|
|
|
NM_024649.5(BBS1):c.1119dup (p.Thr374fs)
|
|
|
NM_024649.5(BBS1):c.111T>C (p.Phe37=)
|
|
|
NM_024649.5(BBS1):c.1122C>G (p.Thr374=)
|
|
|
NM_024649.5(BBS1):c.1122C>T (p.Thr374=)
|
|
|
NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg)
|
|
|
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg)
|
rs1565287512
|
|
NM_024649.5(BBS1):c.1125C>T (p.Ser375=)
|
|
|
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)
|
rs786204701
|
|
NM_024649.5(BBS1):c.1134T>C (p.Phe378=)
|
rs2134809483
|
|
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp)
|
rs752299442
|
|
NM_024649.5(BBS1):c.1139G>T (p.Arg380Leu)
|
|
|
NM_024649.5(BBS1):c.1140G>T (p.Arg380=)
|
rs959671412
|
|
NM_024649.5(BBS1):c.1141T>C (p.Tyr381His)
|
|
|
NM_024649.5(BBS1):c.1149G>A (p.Arg383=)
|
|
|
NM_024649.5(BBS1):c.1155C>G (p.Asp385Glu)
|
rs1856480450
|
|
NM_024649.5(BBS1):c.1162C>G (p.Leu388Val)
|
|
|
NM_024649.5(BBS1):c.1164CAT[1] (p.Ile389del)
|
rs1401696592
|
|
NM_024649.5(BBS1):c.1168A>G (p.Met390Val)
|
|
|
NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly)
|
rs1160669210
|
|
NM_024649.5(BBS1):c.1180+17C>T
|
|
|
NM_024649.5(BBS1):c.1180+1G>T
|
|
|
NM_024649.5(BBS1):c.1180+20G>C
|
|
|
NM_024649.5(BBS1):c.1181-10A>G
|
|
|
NM_024649.5(BBS1):c.1181-17A>G
|
|
|
NM_024649.5(BBS1):c.1181-1G>C
|
|
|
NM_024649.5(BBS1):c.1181-3T>G
|
rs1856511506
|
|
NM_024649.5(BBS1):c.1181-4C>A
|
rs1856511238
|
|
NM_024649.5(BBS1):c.1181-9C>G
|
rs769820955
|
|
NM_024649.5(BBS1):c.1184G>T (p.Gly395Val)
|
rs2134812092
|
|
NM_024649.5(BBS1):c.1188C>T (p.Gly396=)
|
|
|
NM_024649.5(BBS1):c.1189C>T (p.Leu397=)
|
rs1856512452
|
|
NM_024649.5(BBS1):c.1193T>C (p.Ile398Thr)
|
|
|
NM_024649.5(BBS1):c.1194C>T (p.Ile398=)
|
rs200577824
|
|
NM_024649.5(BBS1):c.1200G>A (p.Lys400=)
|
rs761389294
|
|
NM_024649.5(BBS1):c.1203C>T (p.Ile401=)
|
rs2134812233
|
|
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro)
|
rs767150997
|
|
NM_024649.5(BBS1):c.120C>T (p.Cys40=)
|
rs1224146191
|
|
NM_024649.5(BBS1):c.1210C>A (p.Arg404Ser)
|
rs2134812288
|
|
NM_024649.5(BBS1):c.1211G>A (p.Arg404His)
|
|
|
NM_024649.5(BBS1):c.1212T>A (p.Arg404=)
|
|
|
NM_024649.5(BBS1):c.1215A>G (p.Thr405=)
|
|
|
NM_024649.5(BBS1):c.1221G>A (p.Val407=)
|
|
|
NM_024649.5(BBS1):c.1224T>C (p.Phe408=)
|
|
|
NM_024649.5(BBS1):c.1225G>T (p.Val409Leu)
|
|
|
NM_024649.5(BBS1):c.1232_1235del (p.Gly411fs)
|
rs1555049194
|
|
NM_024649.5(BBS1):c.1235del (p.Gly412fs)
|
rs1856517666
|
|
NM_024649.5(BBS1):c.124+11G>A
|
|
|
NM_024649.5(BBS1):c.124+13A>G
|
rs751779071
|
|
NM_024649.5(BBS1):c.124+17A>C
|
rs1374531142
|
|
NM_024649.5(BBS1):c.124+17A>G
|
|
|
NM_024649.5(BBS1):c.124+18G>A
|
|
|
NM_024649.5(BBS1):c.124+19G>C
|
rs761993639
|
|
NM_024649.5(BBS1):c.124+1G>C
|
rs1057516449
|
|
NM_024649.5(BBS1):c.124+9C>T
|
|
|
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)
|
rs1060503690
|
|
NM_024649.5(BBS1):c.1244T>G (p.Val415Gly)
|
|
|
NM_024649.5(BBS1):c.1245G>A (p.Val415=)
|
rs1590772951
|
|
NM_024649.5(BBS1):c.125-14C>T
|
|
|
NM_024649.5(BBS1):c.125-15C>T
|
|
|
NM_024649.5(BBS1):c.125-18G>T
|
|
|
NM_024649.5(BBS1):c.125-4C>T
|
rs2134765678
|
|
NM_024649.5(BBS1):c.1251C>T (p.Pro417=)
|
|
|
NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter)
|
rs1856520165
|
|
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr)
|
rs1346584719
|
|
NM_024649.5(BBS1):c.1267A>G (p.Met423Val)
|
|
|
NM_024649.5(BBS1):c.1284C>G (p.Pro428=)
|
|
|
NM_024649.5(BBS1):c.1284C>T (p.Pro428=)
|
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.1286G>A (p.Arg429Gln)
|
|
|
NM_024649.5(BBS1):c.1293C>T (p.Thr431=)
|
|
|
NM_024649.5(BBS1):c.12G>A (p.Ala4=)
|
rs754161831
|
|
NM_024649.5(BBS1):c.1315C>T (p.Leu439=)
|
|
|
NM_024649.5(BBS1):c.1318C>A (p.Arg440=)
|
|
|
NM_024649.5(BBS1):c.132A>G (p.Ala44=)
|
rs2134765700
|
|
NM_024649.5(BBS1):c.1335C>T (p.Gly445=)
|
|
|
NM_024649.5(BBS1):c.1339+13C>G
|
|
|
NM_024649.5(BBS1):c.1339+15G>A
|
|
|
NM_024649.5(BBS1):c.1339+16G>C
|
|
|
NM_024649.5(BBS1):c.1339+1G>A
|
|
|
NM_024649.5(BBS1):c.1339+20C>A
|
|
|
NM_024649.5(BBS1):c.1339+5G>A
|
rs2134813058
|
|
NM_024649.5(BBS1):c.1339+7C>G
|
|
|
NM_024649.5(BBS1):c.1340-10T>G
|
rs2134830571
|
|
NM_024649.5(BBS1):c.1340-13C>T
|
|
|
NM_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
NM_024649.5(BBS1):c.1340-5C>T
|
|
|
NM_024649.5(BBS1):c.1340-6C>T
|
|
|
NM_024649.5(BBS1):c.1341C>A (p.Ala447=)
|
|
|
NM_024649.5(BBS1):c.1348C>A (p.Arg450=)
|
rs746824022
|
|
NM_024649.5(BBS1):c.1348C>T (p.Arg450Trp)
|
|
|
NM_024649.5(BBS1):c.1353C>T (p.Ala451=)
|
|
|
NM_024649.5(BBS1):c.1356C>T (p.Phe452=)
|
rs2134830713
|
|
NM_024649.5(BBS1):c.1362A>G (p.Thr454=)
|
rs1198392457
|
|
NM_024649.5(BBS1):c.1365C>T (p.Asp455=)
|
rs2134830735
|
|
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys)
|
rs745460551
|
|
NM_024649.5(BBS1):c.1379G>A (p.Arg460His)
|
|
|
NM_024649.5(BBS1):c.1383dup (p.Arg462fs)
|
|
|
NM_024649.5(BBS1):c.1384C>T (p.Arg462Cys)
|
|
|
NM_024649.5(BBS1):c.1385G>A (p.Arg462His)
|
|
|
NM_024649.5(BBS1):c.1385G>T (p.Arg462Leu)
|
|
|
NM_024649.5(BBS1):c.1385_1401dup (p.Leu468fs)
|
rs1166459319
|
|
NM_024649.5(BBS1):c.1389_1405dup (p.Gln469fs)
|
|
|
NM_024649.5(BBS1):c.1392C>G (p.Ala464=)
|
|
|
NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter)
|
|
|
NM_024649.5(BBS1):c.1401C>T (p.Tyr467=)
|
|
|
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter)
|
rs1565289799
|
|
NM_024649.5(BBS1):c.1410C>G (p.Ala470=)
|
rs1856695729
|
|
NM_024649.5(BBS1):c.1413C>A (p.Leu471=)
|
rs3816492
|
|
NM_024649.5(BBS1):c.1413C>G (p.Leu471=)
|
rs3816492
|
|
NM_024649.5(BBS1):c.1419C>T (p.Ser473=)
|
|
|
NM_024649.5(BBS1):c.1432dup (p.Leu478fs)
|
|
|
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys)
|
rs374706769
|
|
NM_024649.5(BBS1):c.1446C>A (p.Ala482=)
|
|
|
NM_024649.5(BBS1):c.1446C>T (p.Ala482=)
|
rs553123090
|
|
NM_024649.5(BBS1):c.144G>A (p.Gly48=)
|
rs2134765721
|
|
NM_024649.5(BBS1):c.1450G>T (p.Glu484Ter)
|
|
|
NM_024649.5(BBS1):c.1452G>A (p.Glu484=)
|
|
|
NM_024649.5(BBS1):c.1455A>G (p.Pro485=)
|
rs2134831283
|
|
NM_024649.5(BBS1):c.145del (p.Asp49fs)
|
rs1855937296
|
|
NM_024649.5(BBS1):c.1464G>T (p.Leu488=)
|
rs1239688580
|
|
NM_024649.5(BBS1):c.1468G>A (p.Ala490Thr)
|
|
|
NM_024649.5(BBS1):c.1473+16A>T
|
rs573129342
|
|
NM_024649.5(BBS1):c.1473+16_1473+18dup
|
rs748694674
|
|
NM_024649.5(BBS1):c.1473+20C>T
|
|
|
NM_024649.5(BBS1):c.1473+2T>C
|
rs1856699646
|
|
NM_024649.5(BBS1):c.1473+3G>A
|
|
|
NM_024649.5(BBS1):c.1473+7del
|
|
|
NM_024649.5(BBS1):c.1473+9C>A
|
|
|
NM_024649.5(BBS1):c.1474-10C>T
|
|
|
NM_024649.5(BBS1):c.1474-11C>T
|
|
|
NM_024649.5(BBS1):c.1474-16C>T
|
|
|
NM_024649.5(BBS1):c.1474-18C>T
|
rs2134836485
|
|
NM_024649.5(BBS1):c.1474-1G>A
|
rs2134836650
|
|
NM_024649.5(BBS1):c.1474-7T>C
|
|
|
NM_024649.5(BBS1):c.1491del (p.Thr498fs)
|
rs2134836723
|
|
NM_024649.5(BBS1):c.1497T>C (p.Phe499=)
|
|
|
NM_024649.5(BBS1):c.14C>T (p.Ser5Phe)
|
|
|
NM_024649.5(BBS1):c.1508_1509delinsAC (p.Leu503His)
|
rs886044274
|
|
NM_024649.5(BBS1):c.150G>A (p.Gly50=)
|
|
|
NM_024649.5(BBS1):c.1512C>T (p.His504=)
|
rs1301583558
|
|
NM_024649.5(BBS1):c.1516C>T (p.Gln506Ter)
|
rs2134836882
|
|
NM_024649.5(BBS1):c.1524C>T (p.Thr508=)
|
rs2134836921
|
|
NM_024649.5(BBS1):c.152A>C (p.Glu51Ala)
|
|
|
NM_024649.5(BBS1):c.1532C>T (p.Thr511Ile)
|
|
|
NM_024649.5(BBS1):c.1533C>T (p.Thr511=)
|
rs112953332
|
|
NM_024649.5(BBS1):c.1534C>T (p.Arg512Cys)
|
|
|
NM_024649.5(BBS1):c.1535G>T (p.Arg512Leu)
|
|
|
NM_024649.5(BBS1):c.1544T>A (p.Leu515Gln)
|
|
|
NM_024649.5(BBS1):c.1548G>A (p.Gly516=)
|
|
|
NM_024649.5(BBS1):c.1548G>C (p.Gly516=)
|
rs763101401
|
|
NM_024649.5(BBS1):c.1549C>T (p.Leu517=)
|
|
|
NM_024649.5(BBS1):c.1551G>A (p.Leu517=)
|
rs767601210
|
|
NM_024649.5(BBS1):c.1551G>C (p.Leu517=)
|
rs767601210
|
|
NM_024649.5(BBS1):c.1554G>C (p.Leu518=)
|
rs760568652
|
|
NM_024649.5(BBS1):c.1557C>A (p.Val519=)
|
rs370356893
|
|
NM_024649.5(BBS1):c.1560C>T (p.Cys520=)
|
|
|
NM_024649.5(BBS1):c.1563C>T (p.Phe521=)
|
|
|
NM_024649.5(BBS1):c.1564del (p.Leu522fs)
|
rs2134837160
|
|
NM_024649.5(BBS1):c.1565T>C (p.Leu522Pro)
|
rs752247232
|
|
NM_024649.5(BBS1):c.156C>T (p.Tyr52=)
|
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
NM_024649.5(BBS1):c.1577C>T (p.Ala526Val)
|
|
|
NM_024649.5(BBS1):c.1578G>T (p.Ala526=)
|
rs373397428
|
|
NM_024649.5(BBS1):c.1581C>G (p.Leu527=)
|
|
|
NM_024649.5(BBS1):c.158dup (p.Leu54fs)
|
rs1313590454
|
|
NM_024649.5(BBS1):c.159+11C>T
|
rs1565280409
|
|
NM_024649.5(BBS1):c.159+11dup
|
|
|
NM_024649.5(BBS1):c.159+13C>A
|
rs1855938272
|
|
NM_024649.5(BBS1):c.159+13C>T
|
|
|
NM_024649.5(BBS1):c.159+15C>A
|
|
|
NM_024649.5(BBS1):c.159+16T>A
|
|
|
NM_024649.5(BBS1):c.159+1G>A
|
|
|
NM_024649.5(BBS1):c.159+2del
|
rs1348187150
|
|
NM_024649.5(BBS1):c.159+4A>G
|
|
|
NM_024649.5(BBS1):c.1591C>A (p.Pro531Thr)
|
|
|
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu)
|
rs142648652
|
|
NM_024649.5(BBS1):c.1596G>A (p.Arg532=)
|
rs1299530387
|
|
NM_024649.5(BBS1):c.160-12C>T
|
|
|
NM_024649.5(BBS1):c.160-1G>A
|
|
|
NM_024649.5(BBS1):c.160-5T>G
|
rs1856006695
|
|
NM_024649.5(BBS1):c.160-6C>T
|
rs1590756372
|
|
NM_024649.5(BBS1):c.160-7C>T
|
rs2134771164
|
|
NM_024649.5(BBS1):c.1600_1601delinsGC (p.Phe534Ala)
|
rs2134837535
|
|
NM_024649.5(BBS1):c.1602C>T (p.Phe534=)
|
|
|
NM_024649.5(BBS1):c.1605C>T (p.Phe535=)
|
|
|
NM_024649.5(BBS1):c.1606A>T (p.Lys536Ter)
|
|
|
NM_024649.5(BBS1):c.1608+16C>T
|
rs2134837630
|
|
NM_024649.5(BBS1):c.1608+8A>G
|
rs2134837603
|
|
NM_024649.5(BBS1):c.1608+8A>T
|
|
|
NM_024649.5(BBS1):c.1608+9T>C
|
rs2134837615
|
|
NM_024649.5(BBS1):c.1609-10C>G
|
|
|
NM_024649.5(BBS1):c.1609-14G>T
|
|
|
NM_024649.5(BBS1):c.1609-4T>A
|
|
|
NM_024649.5(BBS1):c.1609-7A>G
|
|
|
NM_024649.5(BBS1):c.1609-9C>T
|
rs1181236498
|
|
NM_024649.5(BBS1):c.1614C>T (p.Pro538=)
|
|
|
NM_024649.5(BBS1):c.1614del (p.Leu539fs)
|
rs1856785950
|
|
NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu)
|
rs778941006
|
|
NM_024649.5(BBS1):c.1632C>T (p.Leu544=)
|
|
|
NM_024649.5(BBS1):c.1638C>T (p.Tyr546=)
|
rs1856787758
|
|
NM_024649.5(BBS1):c.1641C>A (p.Pro547=)
|
rs770947454
|
|
NM_024649.5(BBS1):c.1641C>G (p.Pro547=)
|
rs770947454
|
|
NM_024649.5(BBS1):c.1641C>T (p.Pro547=)
|
|
|
NM_024649.5(BBS1):c.1642del (p.Leu548fs)
|
rs1555050404
|
|
NM_024649.5(BBS1):c.1643T>C (p.Leu548Pro)
|
rs2134840970
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
NM_024649.5(BBS1):c.1646del (p.Glu549fs)
|
|
|
NM_024649.5(BBS1):c.1657G>T (p.Glu553Ter)
|
rs1856788934
|
|
NM_024649.5(BBS1):c.1660A>C (p.Ser554Arg)
|
|
|
NM_024649.5(BBS1):c.1668T>C (p.Ser556=)
|
|
|
NM_024649.5(BBS1):c.1673A>G (p.Lys558Arg)
|
rs2134841179
|
|
NM_024649.5(BBS1):c.1683A>G (p.Ser561=)
|
rs1856790888
|
|
NM_024649.5(BBS1):c.1692C>T (p.Ile564=)
|
rs2134841325
|
|
NM_024649.5(BBS1):c.1693A>G (p.Lys565Glu)
|
rs1856791342
|
|
NM_024649.5(BBS1):c.1694A>C (p.Lys565Thr)
|
|
|
NM_024649.5(BBS1):c.1695+1G>A
|
rs2134841394
|
|
NM_024649.5(BBS1):c.1695+4G>C
|
|
|
NM_024649.5(BBS1):c.1696-10T>G
|
|
|
NM_024649.5(BBS1):c.1696-13C>T
|
|
|
NM_024649.5(BBS1):c.1696-14C>A
|
|
|
NM_024649.5(BBS1):c.1696-16G>A
|
|
|
NM_024649.5(BBS1):c.1696-1G>A
|
rs1856802024
|
|
NM_024649.5(BBS1):c.1696-4A>G
|
|
|
NM_024649.5(BBS1):c.1696-5C>T
|
rs2134842580
|
|
NM_024649.5(BBS1):c.1696-6C>T
|
|
|
NM_024649.5(BBS1):c.1696-7T>C
|
|
|
NM_024649.5(BBS1):c.1701G>C (p.Leu567=)
|
|
|
NM_024649.5(BBS1):c.1701G>T (p.Leu567=)
|
|
|
NM_024649.5(BBS1):c.1708C>G (p.Arg570Gly)
|
rs1434577015
|
|
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.1721G>A (p.Ser574Asn)
|
|
|
NM_024649.5(BBS1):c.1728C>T (p.Pro576=)
|
rs779302298
|
|
NM_024649.5(BBS1):c.1734G>A (p.Leu578=)
|
|
|
NM_024649.5(BBS1):c.1734G>C (p.Leu578=)
|
rs2134842985
|
|
NM_024649.5(BBS1):c.1737T>G (p.Ser579Arg)
|
rs1856804554
|
|
NM_024649.5(BBS1):c.1740C>T (p.Ala580=)
|
rs2134843050
|
|
NM_024649.5(BBS1):c.174C>T (p.Asp58=)
|
|
|
NM_024649.5(BBS1):c.1752G>A (p.Met584Ile)
|
rs769773058
|
|
NM_024649.5(BBS1):c.1753C>A (p.Pro585Thr)
|
|
|
NM_024649.5(BBS1):c.1755T>C (p.Pro585=)
|
|
|
NM_024649.5(BBS1):c.1758G>T (p.Gly586=)
|
|
|
NM_024649.5(BBS1):c.1761C>T (p.Ser587=)
|
|
|
NM_024649.5(BBS1):c.1764G>A (p.Glu588=)
|
rs2134843313
|
|
NM_024649.5(BBS1):c.1777G>T (p.Ala593Ser)
|
|
|
NM_024649.5(BBS1):c.1779C>T (p.Ala593=)
|
rs1262928353
|
|
NM_024649.5(BBS1):c.1781G>A (p.Ter594=)
|
rs1475796233
|
|
NM_024649.5(BBS1):c.179G>C (p.Gly60Ala)
|
|
|
NM_024649.5(BBS1):c.17dup (p.Ser7fs)
|
rs1166022838
|
|
NM_024649.5(BBS1):c.18A>C (p.Ser6=)
|
|
|
NM_024649.5(BBS1):c.18A>T (p.Ser6=)
|
rs758441011
|
|
NM_024649.5(BBS1):c.194A>G (p.Gln65Arg)
|
rs1856007588
|
|
NM_024649.5(BBS1):c.1A>G (p.Met1Val)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.201C>T (p.Arg67=)
|
rs2134771274
|
|
NM_024649.5(BBS1):c.204G>A (p.Leu68=)
|
rs11553180
|
|
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter)
|
rs1012901050
|
|
NM_024649.5(BBS1):c.21G>A (p.Ser7=)
|
|
|
NM_024649.5(BBS1):c.21G>C (p.Ser7=)
|
|
|
NM_024649.5(BBS1):c.222A>C (p.Pro74=)
|
|
|
NM_024649.5(BBS1):c.222A>G (p.Pro74=)
|
|
|
NM_024649.5(BBS1):c.223C>A (p.Leu75Met)
|
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024649.5(BBS1):c.225G>A (p.Leu75=)
|
rs2134771305
|
|
NM_024649.5(BBS1):c.227T>A (p.Val76Glu)
|
rs2134771309
|
|
NM_024649.5(BBS1):c.228G>A (p.Val76=)
|
|
|
NM_024649.5(BBS1):c.230T>C (p.Met77Thr)
|
rs377037816
|
|
NM_024649.5(BBS1):c.234C>G (p.Thr78=)
|
rs748732460
|
|
NM_024649.5(BBS1):c.235G>T (p.Glu79Ter)
|
rs138744839
|
|
NM_024649.5(BBS1):c.237A>G (p.Glu79=)
|
rs2134771324
|
|
NM_024649.5(BBS1):c.240C>T (p.Ser80=)
|
rs1590756460
|
|
NM_024649.5(BBS1):c.243G>C (p.Pro81=)
|
rs141429900
|
|
NM_024649.5(BBS1):c.243G>T (p.Pro81=)
|
rs141429900
|
|
NM_024649.5(BBS1):c.252T>C (p.Ala84=)
|
|
|
NM_024649.5(BBS1):c.254T>G (p.Leu85Arg)
|
|
|
NM_024649.5(BBS1):c.256C>T (p.Pro86Ser)
|
rs2134771356
|
|
NM_024649.5(BBS1):c.267T>C (p.Ala89=)
|
rs1481566685
|
|
NM_024649.5(BBS1):c.270C>T (p.Ala90=)
|
rs2134771366
|
|
NM_024649.5(BBS1):c.273C>T (p.Thr91=)
|
|
|
NM_024649.5(BBS1):c.276C>T (p.Phe92=)
|
|
|
NM_024649.5(BBS1):c.279C>T (p.Leu93=)
|
|
|
NM_024649.5(BBS1):c.27C>T (p.Ser9=)
|
rs373772468
|
|
NM_024649.5(BBS1):c.285G>A (p.Glu95=)
|
rs1303303948
|
|
NM_024649.5(BBS1):c.290A>G (p.His97Arg)
|
|
|
NM_024649.5(BBS1):c.298C>T (p.Arg100Trp)
|
|
|
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)
|
|
|
NM_024649.5(BBS1):c.2T>C (p.Met1Thr)
|
|
|
NM_024649.5(BBS1):c.300G>T (p.Arg100=)
|
|
|
NM_024649.5(BBS1):c.303C>T (p.Thr101=)
|
|
|
NM_024649.5(BBS1):c.309T>G (p.Ala103=)
|
|
|
NM_024649.5(BBS1):c.30C>T (p.Asp10=)
|
|
|
NM_024649.5(BBS1):c.312G>T (p.Leu104=)
|
|
|
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.331del (p.Cys111fs)
|
|
|
NM_024649.5(BBS1):c.336C>A (p.Val112=)
|
rs2134771483
|
|
NM_024649.5(BBS1):c.337T>C (p.Tyr113His)
|
rs2134771484
|
|
NM_024649.5(BBS1):c.339del (p.Val112_Tyr113insTer)
|
|
|
NM_024649.5(BBS1):c.342G>A (p.Val114=)
|
rs2134771502
|
|
NM_024649.5(BBS1):c.345dup (p.Lys116Ter)
|
rs1555046611
|
|
NM_024649.5(BBS1):c.346_347dup (p.Asn117fs)
|
|
|
NM_024649.5(BBS1):c.356_357insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATCTCAG (p.Arg119_Pro120insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_024649.5(BBS1):c.357A>G (p.Arg119=)
|
|
|
NM_024649.5(BBS1):c.35G>A (p.Cys12Tyr)
|
|
|
NM_024649.5(BBS1):c.363C>T (p.Tyr121=)
|
|
|
NM_024649.5(BBS1):c.369G>A (p.Lys123=)
|
rs1432629236
|
|
NM_024649.5(BBS1):c.36C>T (p.Cys12=)
|
rs1590753542
|
|
NM_024649.5(BBS1):c.372C>T (p.Phe124=)
|
|
|
NM_024649.5(BBS1):c.374G>A (p.Ser125Asn)
|
|
|
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter)
|
rs2134771570
|
|
NM_024649.5(BBS1):c.398C>T (p.Pro133Leu)
|
|
|
NM_024649.5(BBS1):c.3G>A (p.Met1Ile)
|
|
|
NM_024649.5(BBS1):c.400C>T (p.Leu134=)
|
rs771933760
|
|
NM_024649.5(BBS1):c.417G>A (p.Trp139Ter)
|
rs1856011993
|
|
NM_024649.5(BBS1):c.41C>T (p.Ala14Val)
|
|
|
NM_024649.5(BBS1):c.421C>T (p.Gln141Ter)
|
rs2134771631
|
|
NM_024649.5(BBS1):c.424G>T (p.Ala142Ser)
|
|
|
NM_024649.5(BBS1):c.432+14A>C
|
rs764645595
|
|
NM_024649.5(BBS1):c.432+14A>G
|
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024649.5(BBS1):c.432+7A>G
|
|
|
NM_024649.5(BBS1):c.433-11C>T
|
|
|
NM_024649.5(BBS1):c.433-19T>C
|
|
|
NM_024649.5(BBS1):c.433-4A>G
|
|
|
NM_024649.5(BBS1):c.433-6T>G
|
|
|
NM_024649.5(BBS1):c.433-9T>C
|
rs2134773143
|
|
NM_024649.5(BBS1):c.433G>T (p.Asp145Tyr)
|
|
|
NM_024649.5(BBS1):c.446C>T (p.Pro149Leu)
|
rs1486897768
|
|
NM_024649.5(BBS1):c.449T>A (p.Leu150Ter)
|
|
|
NM_024649.5(BBS1):c.45G>A (p.Glu15=)
|
rs767116799
|
|
NM_024649.5(BBS1):c.465G>A (p.Met155Ile)
|
|
|
NM_024649.5(BBS1):c.466C>T (p.Leu156=)
|
rs2134773250
|
|
NM_024649.5(BBS1):c.468G>A (p.Leu156=)
|
rs752092460
|
|
NM_024649.5(BBS1):c.47+12G>A
|
|
|
NM_024649.5(BBS1):c.47+15C>A
|
|
|
NM_024649.5(BBS1):c.47+16C>T
|
|
|
NM_024649.5(BBS1):c.47+19A>G
|
rs970767838
|
|
NM_024649.5(BBS1):c.47+1G>T
|
rs1475257145
|
|
NM_024649.5(BBS1):c.47+20A>C
|
|
|
NM_024649.5(BBS1):c.47+20A>G
|
|
|
NM_024649.5(BBS1):c.47+7G>A
|
|
|
NM_024649.5(BBS1):c.47+7G>T
|
|
|
NM_024649.5(BBS1):c.47+9A>C
|
|
|
NM_024649.5(BBS1):c.47+9A>G
|
|
|
NM_024649.5(BBS1):c.47+9A>T
|
rs755329603
|
|
NM_024649.5(BBS1):c.477C>T (p.Ile159=)
|
|
|
NM_024649.5(BBS1):c.479+12C>T
|
|
|
NM_024649.5(BBS1):c.479+16C>T
|
|
|
NM_024649.5(BBS1):c.479+7G>A
|
|
|
NM_024649.5(BBS1):c.479+9C>T
|
rs2134773282
|
|
NM_024649.5(BBS1):c.48-10C>T
|
|
|
NM_024649.5(BBS1):c.48-13C>A
|
|
|
NM_024649.5(BBS1):c.48-14dup
|
|
|
NM_024649.5(BBS1):c.48-18T>C
|
|
|
NM_024649.5(BBS1):c.48-1G>A
|
rs751753112
|
|
NM_024649.5(BBS1):c.48-1G>T
|
rs751753112
|
|
NM_024649.5(BBS1):c.48-2A>G
|
|
|
NM_024649.5(BBS1):c.48-7C>T
|
rs2134765142
|
|
NM_024649.5(BBS1):c.48-9C>G
|
|
|
NM_024649.5(BBS1):c.48-9C>T
|
rs765571574
|
|
NM_024649.5(BBS1):c.480-2A>C
|
rs1856035426
|
|
NM_024649.5(BBS1):c.480-4G>T
|
|
|
NM_024649.5(BBS1):c.480-5T>C
|
|
|
NM_024649.5(BBS1):c.480-9T>C
|
rs1856035253
|
|
NM_024649.5(BBS1):c.480G>T (p.Arg160=)
|
|
|
NM_024649.5(BBS1):c.486G>A (p.Thr162=)
|
|
|
NM_024649.5(BBS1):c.486G>T (p.Thr162=)
|
|
|
NM_024649.5(BBS1):c.489A>G (p.Ala163=)
|
|
|
NM_024649.5(BBS1):c.491A>G (p.Glu164Gly)
|
rs1319438351
|
|
NM_024649.5(BBS1):c.492G>A (p.Glu164=)
|
|
|
NM_024649.5(BBS1):c.514C>T (p.Leu172Phe)
|
rs1026985396
|
|
NM_024649.5(BBS1):c.518+12G>A
|
|
|
NM_024649.5(BBS1):c.518+15G>T
|
|
|
NM_024649.5(BBS1):c.518+19G>A
|
|
|
NM_024649.5(BBS1):c.519-16T>G
|
|
|
NM_024649.5(BBS1):c.519-20C>G
|
rs539484942
|
|
NM_024649.5(BBS1):c.51T>C (p.Asn17=)
|
rs2134765186
|
|
NM_024649.5(BBS1):c.522T>C (p.Phe174=)
|
|
|
NM_024649.5(BBS1):c.526C>T (p.Gln176Ter)
|
|
|
NM_024649.5(BBS1):c.528G>A (p.Gln176=)
|
|
|
NM_024649.5(BBS1):c.534G>A (p.Glu178=)
|
rs2134773837
|
|
NM_024649.5(BBS1):c.535C>T (p.Leu179=)
|
rs2134773849
|
|
NM_024649.5(BBS1):c.549G>A (p.Glu183=)
|
rs2134773873
|
|
NM_024649.5(BBS1):c.558A>T (p.Val186=)
|
rs1856039229
|
|
NM_024649.5(BBS1):c.561C>T (p.Asn187=)
|
|
|
NM_024649.5(BBS1):c.573dup (p.Asn192fs)
|
|
|
NM_024649.5(BBS1):c.576C>T (p.Asn192=)
|
rs2134773921
|
|
NM_024649.5(BBS1):c.579C>T (p.Ser193=)
|
rs747846164
|
|
NM_024649.5(BBS1):c.57C>G (p.Ala19=)
|
rs755026677
|
|
NM_024649.5(BBS1):c.585G>A (p.Lys195=)
|
rs2134773941
|
|
NM_024649.5(BBS1):c.586C>T (p.Arg196Trp)
|
|
|
NM_024649.5(BBS1):c.588G>A (p.Arg196=)
|
|
|
NM_024649.5(BBS1):c.591+10C>A
|
rs2134774008
|
|
NM_024649.5(BBS1):c.591+10C>T
|
|
|
NM_024649.5(BBS1):c.591+10_591+11dup
|
rs770545908
|
|
NM_024649.5(BBS1):c.591+11C>T
|
|
|
NM_024649.5(BBS1):c.591+11del
|
|
|
NM_024649.5(BBS1):c.591+13T>C
|
|
|
NM_024649.5(BBS1):c.591+18T>G
|
rs2134774029
|
|
NM_024649.5(BBS1):c.591+7C>G
|
rs1407448709
|
|
NM_024649.5(BBS1):c.592-10C>T
|
|
|
NM_024649.5(BBS1):c.592-11T>A
|
rs2134780351
|
|
NM_024649.5(BBS1):c.592-17C>T
|
|
|
NM_024649.5(BBS1):c.592-19C>A
|
|
|
NM_024649.5(BBS1):c.592-20C>G
|
rs778903752
|
|
NM_024649.5(BBS1):c.592-20C>T
|
|
|
NM_024649.5(BBS1):c.592-4G>A
|
|
|
NM_024649.5(BBS1):c.592-5T>C
|
|
|
NM_024649.5(BBS1):c.592-6C>A
|
|
|
NM_024649.5(BBS1):c.592-6C>G
|
|
|
NM_024649.5(BBS1):c.592-6C>T
|
rs1462048534
|
|
NM_024649.5(BBS1):c.592-7_592-5del
|
rs774944051
|
|
NM_024649.5(BBS1):c.595_598del (p.Val199fs)
|
rs1555047409
|
|
NM_024649.5(BBS1):c.59A>G (p.Asn20Ser)
|
|
|
NM_024649.5(BBS1):c.605C>G (p.Thr202Ser)
|
|
|
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer)
|
rs2134780429
|
|
NM_024649.5(BBS1):c.612C>A (p.Thr204=)
|
|
|
NM_024649.5(BBS1):c.614C>T (p.Thr205Ile)
|
|
|
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn)
|
rs2134780459
|
|
NM_024649.5(BBS1):c.63G>A (p.Ser21=)
|
rs2134765230
|
|
NM_024649.5(BBS1):c.650C>T (p.Ser217Phe)
|
|
|
NM_024649.5(BBS1):c.651T>G (p.Ser217=)
|
|
|
NM_024649.5(BBS1):c.667del (p.Thr223fs)
|
|
|
NM_024649.5(BBS1):c.66G>A (p.Lys22=)
|
|
|
NM_024649.5(BBS1):c.672G>A (p.Glu224=)
|
|
|
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg)
|
rs1856141438
|
|
NM_024649.5(BBS1):c.686T>C (p.Leu229Pro)
|
|
|
NM_024649.5(BBS1):c.687G>A (p.Leu229=)
|
rs752374832
|
|
NM_024649.5(BBS1):c.688del (p.Val230fs)
|
rs1856141939
|
|
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)
|
rs778850233
|
|
NM_024649.5(BBS1):c.690G>A (p.Val230=)
|
rs2134780572
|
|
NM_024649.5(BBS1):c.690dup (p.Leu231fs)
|
|
|
NM_024649.5(BBS1):c.696C>T (p.Asp232=)
|
rs2134780578
|
|
NM_024649.5(BBS1):c.6C>A (p.Ala2=)
|
rs143592479
|
|
NM_024649.5(BBS1):c.6C>G (p.Ala2=)
|
|
|
NM_024649.5(BBS1):c.705C>T (p.Ala235=)
|
rs2134780617
|
|
NM_024649.5(BBS1):c.718G>T (p.Ala240Ser)
|
|
|
NM_024649.5(BBS1):c.71dup (p.Leu24fs)
|
rs1855932012
|
|
NM_024649.5(BBS1):c.723+11G>C
|
|
|
NM_024649.5(BBS1):c.723+12G>A
|
|
|
NM_024649.5(BBS1):c.723+13T>C
|
|
|
NM_024649.5(BBS1):c.723+14C>G
|
|
|
NM_024649.5(BBS1):c.723+16G>T
|
|
|
NM_024649.5(BBS1):c.723+19C>T
|
|
|
NM_024649.5(BBS1):c.723+1G>A
|
|
|
NM_024649.5(BBS1):c.723+2T>G
|
|
|
NM_024649.5(BBS1):c.724-13T>G
|
|
|
NM_024649.5(BBS1):c.724-15G>T
|
|
|
NM_024649.5(BBS1):c.724-17G>T
|
|
|
NM_024649.5(BBS1):c.724-17dup
|
|
|
NM_024649.5(BBS1):c.724-18T>A
|
|
|
NM_024649.5(BBS1):c.724-18T>C
|
|
|
NM_024649.5(BBS1):c.724-20T>G
|
|
|
NM_024649.5(BBS1):c.724-4G>A
|
|
|
NM_024649.5(BBS1):c.724-5T>A
|
rs2134784385
|
|
NM_024649.5(BBS1):c.724-8_724-6del
|
|
|
NM_024649.5(BBS1):c.724-8_726del
|
rs1856202628
|
|
NM_024649.5(BBS1):c.724-9T>C
|
rs1590762249
|
|
NM_024649.5(BBS1):c.729C>A (p.Ser243Arg)
|
rs1180861221
|
|
NM_024649.5(BBS1):c.729C>T (p.Ser243=)
|
|
|
NM_024649.5(BBS1):c.731T>C (p.Leu244Pro)
|
rs2134784436
|
|
NM_024649.5(BBS1):c.739G>C (p.Val247Leu)
|
|
|
NM_024649.5(BBS1):c.747_748del (p.Phe250fs)
|
|
|
NM_024649.5(BBS1):c.751C>T (p.Leu251=)
|
|
|
NM_024649.5(BBS1):c.75T>C (p.Asp25=)
|
|
|
NM_024649.5(BBS1):c.768G>C (p.Gln256His)
|
|
|
NM_024649.5(BBS1):c.771T>G (p.Phe257Leu)
|
rs367686869
|
|
NM_024649.5(BBS1):c.777T>C (p.Val259=)
|
rs2134784755
|
|
NM_024649.5(BBS1):c.77C>T (p.Ala26Val)
|
rs866558676
|
|
NM_024649.5(BBS1):c.780G>A (p.Glu260=)
|
|
|
NM_024649.5(BBS1):c.783C>T (p.Phe261=)
|
|
|
NM_024649.5(BBS1):c.785G>A (p.Arg262Gln)
|
|
|
NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)
|
|
|
NM_024649.5(BBS1):c.793G>A (p.Ala265Thr)
|
|
|
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu)
|
rs372939761
|
|
NM_024649.5(BBS1):c.794C>T (p.Ala265Val)
|
|
|
NM_024649.5(BBS1):c.796_805dup (p.Asn269fs)
|
|
|
NM_024649.5(BBS1):c.7G>T (p.Ala3Ser)
|
|
|
NM_024649.5(BBS1):c.816C>T (p.Ile272=)
|
rs1856208944
|
|
NM_024649.5(BBS1):c.830+10T>C
|
|
|
NM_024649.5(BBS1):c.830+10T>G
|
rs2134785089
|
|
NM_024649.5(BBS1):c.830+12del
|
rs1343720111
|
|
NM_024649.5(BBS1):c.830+13G>A
|
|
|
NM_024649.5(BBS1):c.830+16G>A
|
|
|
NM_024649.5(BBS1):c.830+20C>G
|
|
|
NM_024649.5(BBS1):c.830+2T>A
|
|
|
NM_024649.5(BBS1):c.830+9A>G
|
|
|
NM_024649.5(BBS1):c.830+9A>T
|
rs2134785082
|
|
NM_024649.5(BBS1):c.831-13_831-11del
|
|
|
NM_024649.5(BBS1):c.831-15T>G
|
rs1293446597
|
|
NM_024649.5(BBS1):c.831-18G>A
|
|
|
NM_024649.5(BBS1):c.831-18G>C
|
|
|
NM_024649.5(BBS1):c.831-19T>C
|
|
|
NM_024649.5(BBS1):c.831-20G>A
|
rs1856334164
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
NM_024649.5(BBS1):c.831-3C>G
|
rs113994179
|
|
NM_024649.5(BBS1):c.831-3C>T
|
|
|
NM_024649.5(BBS1):c.831-4A>G
|
rs2134794642
|
|
NM_024649.5(BBS1):c.837C>T (p.Ser279=)
|
rs2134794684
|
|
NM_024649.5(BBS1):c.83A>G (p.Tyr28Cys)
|
rs1263024783
|
|
NM_024649.5(BBS1):c.843C>T (p.His281=)
|
|
|
NM_024649.5(BBS1):c.84C>T (p.Tyr28=)
|
rs771560964
|
|
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)
|
rs1057516427
|
|
NM_024649.5(BBS1):c.863T>G (p.Leu288Arg)
|
|
|
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)
|
rs1057517143
|
|
NM_024649.5(BBS1):c.873G>A (p.Gln291=)
|
rs547524683
|
|
NM_024649.5(BBS1):c.886A>G (p.Ile296Val)
|
|
|
NM_024649.5(BBS1):c.887del (p.Ile296fs)
|
rs794727006
|
|
NM_024649.5(BBS1):c.888C>T (p.Ile296=)
|
|
|
NM_024649.5(BBS1):c.889C>T (p.Arg297Trp)
|
|
|
NM_024649.5(BBS1):c.903C>T (p.Val301=)
|
rs2134795241
|
|
NM_024649.5(BBS1):c.904C>T (p.Leu302=)
|
|
|
NM_024649.5(BBS1):c.907G>C (p.Val303Leu)
|
rs2134795278
|
|
NM_024649.5(BBS1):c.910G>T (p.Val304Leu)
|
rs1228755309
|
|
NM_024649.5(BBS1):c.921C>G (p.Thr307=)
|
rs2134795441
|
|
NM_024649.5(BBS1):c.930C>T (p.Ser310=)
|
rs901307899
|
|
NM_024649.5(BBS1):c.938G>A (p.Gly313Asp)
|
rs1280115378
|
|
NM_024649.5(BBS1):c.93G>C (p.Met31Ile)
|
|
|
NM_024649.5(BBS1):c.942C>T (p.Phe314=)
|
|
|
NM_024649.5(BBS1):c.945C>A (p.Thr315=)
|
rs2134795565
|
|
NM_024649.5(BBS1):c.951+11dup
|
|
|
NM_024649.5(BBS1):c.951+16AGC[2]
|
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+1G>C
|
|
|
NM_024649.5(BBS1):c.951+2T>A
|
|
|
NM_024649.5(BBS1):c.951+3G>A
|
rs1590766778
|
|
NM_024649.5(BBS1):c.951+58C>T
|
rs1856346961
|
|
NM_024649.5(BBS1):c.952-12G>A
|
|
|
NM_024649.5(BBS1):c.952-15G>A
|
|
|
NM_024649.5(BBS1):c.952-16G>A
|
|
|
NM_024649.5(BBS1):c.952-18C>T
|
|
|
NM_024649.5(BBS1):c.952-20C>A
|
rs1189838889
|
|
NM_024649.5(BBS1):c.952-5G>A
|
rs2134796694
|
|
NM_024649.5(BBS1):c.952-7C>G
|
rs1590767187
|
|
NM_024649.5(BBS1):c.952-7C>T
|
rs1590767187
|
|
NM_024649.5(BBS1):c.952-8C>G
|
rs1856353251
|
|
NM_024649.5(BBS1):c.952-9C>T
|
|
|
NM_024649.5(BBS1):c.971T>C (p.Val324Ala)
|
|
|
NM_024649.5(BBS1):c.981del (p.Ala328fs)
|
rs1057516371
|
|
NM_024649.5(BBS1):c.982G>A (p.Ala328Thr)
|
|
|
NM_024649.5(BBS1):c.987C>T (p.Ala329=)
|
|
|
NM_024649.5(BBS1):c.996C>G (p.Thr332=)
|
|
|
NM_024649.5(BBS1):c.999G>A (p.Met333Ile)
|
rs1856357942
|
|
NM_024649.5(BBS1):c.999G>T (p.Met333Ile)
|
rs1856357942
|
|
NM_024685.4(BBS10):c.1005A>G (p.Ser335=)
|
|
|
NM_024685.4(BBS10):c.1009_1010inv (p.Glu337Ser)
|
|
|
NM_024685.4(BBS10):c.1010A>G (p.Glu337Gly)
|
rs752630373
|
|
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del)
|
rs750611000
|
|
NM_024685.4(BBS10):c.1014A>G (p.Glu338=)
|
rs2136090679
|
|
NM_024685.4(BBS10):c.1024dup (p.Ile342fs)
|
rs869025210
|
|
NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr)
|
rs1951764046
|
|
NM_024685.4(BBS10):c.1026C>T (p.Ile342=)
|
rs2136090671
|
|
NM_024685.4(BBS10):c.1027C>T (p.Arg343Trp)
|
|
|
NM_024685.4(BBS10):c.1032G>T (p.Arg344Ser)
|
|
|
NM_024685.4(BBS10):c.1035C>T (p.Ile345=)
|
|
|
NM_024685.4(BBS10):c.1036A>G (p.Ile346Val)
|
|
|
NM_024685.4(BBS10):c.1038T>C (p.Ile346=)
|
|
|
NM_024685.4(BBS10):c.1041T>G (p.Gly347=)
|
|
|
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)
|
rs587777837
|
|
NM_024685.4(BBS10):c.1048C>A (p.Pro350Thr)
|
|
|
NM_024685.4(BBS10):c.1054G>A (p.Val352Ile)
|
rs779201114
|
|
NM_024685.4(BBS10):c.1059A>G (p.Pro353=)
|
rs2136090643
|
|
NM_024685.4(BBS10):c.1059A>T (p.Pro353=)
|
rs2136090643
|
|
NM_024685.4(BBS10):c.105A>G (p.Gln35=)
|
|
|
NM_024685.4(BBS10):c.1064del (p.Gln355fs)
|
rs1555202654
|
|
NM_024685.4(BBS10):c.1068del (p.Ser358fs)
|
|
|
NM_024685.4(BBS10):c.106G>T (p.Val36Phe)
|
rs896544129
|
|
NM_024685.4(BBS10):c.1072T>C (p.Ser358Pro)
|
|
|
NM_024685.4(BBS10):c.1074G>A (p.Ser358=)
|
rs551803123
|
|
NM_024685.4(BBS10):c.1074G>T (p.Ser358=)
|
rs551803123
|
|
NM_024685.4(BBS10):c.1077G>A (p.Gln359=)
|
rs2136090625
|
|
NM_024685.4(BBS10):c.1080_1081del (p.Cys360_Glu361delinsTer)
|
rs2136090624
|
|
NM_024685.4(BBS10):c.1081G>A (p.Glu361Lys)
|
rs1565809819
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1092C>T (p.Asn364=)
|
rs1951763479
|
|
NM_024685.4(BBS10):c.1095T>C (p.Thr365=)
|
|
|
NM_024685.4(BBS10):c.1101G>A (p.Leu367=)
|
|
|
NM_024685.4(BBS10):c.1112G>C (p.Cys371Ser)
|
rs1951763406
|
|
NM_024685.4(BBS10):c.1122dup (p.Ile375fs)
|
rs753604828
|
|
NM_024685.4(BBS10):c.1125C>T (p.Ile375=)
|
rs762785764
|
|
NM_024685.4(BBS10):c.1133C>T (p.Ser378Phe)
|
rs1951763168
|
|
NM_024685.4(BBS10):c.1143T>C (p.Tyr381=)
|
rs1340165752
|
|
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter)
|
rs1340165752
|
|
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu)
|
rs775492103
|
|
NM_024685.4(BBS10):c.1145T>G (p.Val382Gly)
|
rs2136090562
|
|
NM_024685.4(BBS10):c.1149T>C (p.His383=)
|
|
|
NM_024685.4(BBS10):c.1158G>A (p.Leu386=)
|
rs138702315
|
|
NM_024685.4(BBS10):c.1158G>C (p.Leu386Phe)
|
|
|
NM_024685.4(BBS10):c.1160T>C (p.Ile387Thr)
|
|
|
NM_024685.4(BBS10):c.1167A>G (p.Thr389=)
|
|
|
NM_024685.4(BBS10):c.1170T>C (p.Cys390=)
|
|
|
NM_024685.4(BBS10):c.1173A>G (p.Ala391=)
|
|
|
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
|
rs1368733646
|
|
NM_024685.4(BBS10):c.1185C>G (p.His395Gln)
|
rs863224793
|
|
NM_024685.4(BBS10):c.1185C>T (p.His395=)
|
rs863224793
|
|
NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs)
|
rs1555202636
|
|
NM_024685.4(BBS10):c.1188T>G (p.Ser396=)
|
rs143903199
|
|
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
|
|
|
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter)
|
rs202228478
|
|
NM_024685.4(BBS10):c.1192G>A (p.Val398Ile)
|
|
|
NM_024685.4(BBS10):c.1195C>A (p.Leu399Ile)
|
|
|
NM_024685.4(BBS10):c.1197T>A (p.Leu399=)
|
rs974452621
|
|
NM_024685.4(BBS10):c.1201G>A (p.Gly401Arg)
|
|
|
NM_024685.4(BBS10):c.1218C>T (p.Leu406=)
|
rs758194221
|
|
NM_024685.4(BBS10):c.1224A>G (p.Glu408=)
|
|
|
NM_024685.4(BBS10):c.1225del (p.Gln409fs)
|
|
|
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr)
|
rs1951762170
|
|
NM_024685.4(BBS10):c.1235A>T (p.Asp412Val)
|
|
|
NM_024685.4(BBS10):c.1236T>C (p.Asp412=)
|
rs2136090480
|
|
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)
|
rs1057517156
|
|
NM_024685.4(BBS10):c.1248A>G (p.Gly416=)
|
rs2136090464
|
|
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
|
|
|
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val)
|
rs537219462
|
|
NM_024685.4(BBS10):c.1254T>C (p.Leu418=)
|
rs920762954
|
|
NM_024685.4(BBS10):c.1257A>G (p.Lys419=)
|
|
|
NM_024685.4(BBS10):c.1258A>C (p.Met420Leu)
|
rs1951761840
|
|
NM_024685.4(BBS10):c.1264del (p.Arg422fs)
|
|
|
NM_024685.4(BBS10):c.1269A>G (p.Gln423=)
|
|
|
NM_024685.4(BBS10):c.126T>G (p.Thr42=)
|
rs1467112927
|
|
NM_024685.4(BBS10):c.1272del (p.Leu424fs)
|
|
|
NM_024685.4(BBS10):c.1277A>G (p.Lys426Arg)
|
|
|
NM_024685.4(BBS10):c.1278A>G (p.Lys426=)
|
|
|
NM_024685.4(BBS10):c.1280A>G (p.Asp427Gly)
|
|
|
NM_024685.4(BBS10):c.1284T>A (p.Leu428=)
|
rs1382756940
|
|
NM_024685.4(BBS10):c.1290_1293del (p.Asn431fs)
|
rs2136090423
|
|
NM_024685.4(BBS10):c.1293T>C (p.Asn431=)
|
|
|
NM_024685.4(BBS10):c.1296C>T (p.Tyr432=)
|
|
|
NM_024685.4(BBS10):c.1297A>T (p.Met433Leu)
|
rs987403283
|
|
NM_024685.4(BBS10):c.129C>A (p.Gly43=)
|
rs2136091554
|
|
NM_024685.4(BBS10):c.12T>C (p.Ser4=)
|
|
|
NM_024685.4(BBS10):c.1308C>G (p.Thr436=)
|
|
|
NM_024685.4(BBS10):c.1314C>T (p.Asp438=)
|
rs2136090402
|
|
NM_024685.4(BBS10):c.1315del (p.Gln439fs)
|
rs1592491950
|
|
NM_024685.4(BBS10):c.1317A>G (p.Gln439=)
|
|
|
NM_024685.4(BBS10):c.1320T>C (p.Asn440=)
|
rs2136090393
|
|
NM_024685.4(BBS10):c.1325C>G (p.Thr442Ser)
|
|
|
NM_024685.4(BBS10):c.1329A>G (p.Ser443=)
|
|
|
NM_024685.4(BBS10):c.1330del (p.Ser444fs)
|
rs2136090382
|
|
NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs)
|
rs1389599028
|
|
NM_024685.4(BBS10):c.1336T>C (p.Phe446Leu)
|
|
|
NM_024685.4(BBS10):c.1338T>C (p.Phe446=)
|
rs941842098
|
|
NM_024685.4(BBS10):c.1338dup (p.Ile447fs)
|
|
|
NM_024685.4(BBS10):c.1349A>G (p.Asn450Ser)
|
|
|
NM_024685.4(BBS10):c.135G>C (p.Val45=)
|
|
|
NM_024685.4(BBS10):c.1365T>C (p.Tyr455=)
|
rs778731343
|
|
NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter)
|
rs778731343
|
|
NM_024685.4(BBS10):c.136C>T (p.Leu46Phe)
|
rs1951778317
|
|
NM_024685.4(BBS10):c.1374A>G (p.Pro458=)
|
rs778415408
|
|
NM_024685.4(BBS10):c.1383T>A (p.Gly461=)
|
|
|
NM_024685.4(BBS10):c.1383T>C (p.Gly461=)
|
rs903725118
|
|
NM_024685.4(BBS10):c.138T>C (p.Leu46=)
|
rs2136091543
|
|
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)
|
rs759682922
|
|
NM_024685.4(BBS10):c.1392A>G (p.Ser464=)
|
|
|
NM_024685.4(BBS10):c.1395A>C (p.Ile465=)
|
rs2136090313
|
|
NM_024685.4(BBS10):c.1399del (p.Arg467fs)
|
|
|
NM_024685.4(BBS10):c.13A>G (p.Met5Val)
|
|
|
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys)
|
rs1022090476
|
|
NM_024685.4(BBS10):c.1401G>C (p.Arg467Ser)
|
|
|
NM_024685.4(BBS10):c.1416A>C (p.Thr472=)
|
rs1345667368
|
|
NM_024685.4(BBS10):c.1440G>C (p.Leu480Phe)
|
|
|
NM_024685.4(BBS10):c.1442A>G (p.Glu481Gly)
|
|
|
NM_024685.4(BBS10):c.1447dup (p.Thr483fs)
|
rs759185809
|
|
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs)
|
rs786204705
|
|
NM_024685.4(BBS10):c.1452_1455del (p.Gln484fs)
|
rs1565809597
|
|
NM_024685.4(BBS10):c.1453dup (p.Thr485fs)
|
rs2136090243
|
|
NM_024685.4(BBS10):c.1455A>T (p.Thr485=)
|
rs1951759523
|
|
NM_024685.4(BBS10):c.147G>A (p.Arg49=)
|
rs1592493118
|
|
NM_024685.4(BBS10):c.147G>T (p.Arg49=)
|
|
|
NM_024685.4(BBS10):c.1483A>C (p.Ile495Leu)
|
|
|
NM_024685.4(BBS10):c.1490A>G (p.Asp497Gly)
|
|
|
NM_024685.4(BBS10):c.1494A>G (p.Val498=)
|
rs1048483339
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
NM_024685.4(BBS10):c.1505C>A (p.Thr502Lys)
|
|
|
NM_024685.4(BBS10):c.1509T>C (p.Tyr503=)
|
rs1951759072
|
|
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)
|
rs886043841
|
|
NM_024685.4(BBS10):c.1514_1520del (p.Pro505fs)
|
rs1951758972
|
|
NM_024685.4(BBS10):c.1515G>A (p.Pro505=)
|
rs762917447
|
|
NM_024685.4(BBS10):c.1515G>C (p.Pro505=)
|
|
|
NM_024685.4(BBS10):c.1515G>T (p.Pro505=)
|
rs762917447
|
|
NM_024685.4(BBS10):c.1522A>G (p.Thr508Ala)
|
|
|
NM_024685.4(BBS10):c.1525C>T (p.Pro509Ser)
|
|
|
NM_024685.4(BBS10):c.1527C>T (p.Pro509=)
|
rs762271852
|
|
NM_024685.4(BBS10):c.152dup (p.Gly52fs)
|
|
|
NM_024685.4(BBS10):c.1531C>T (p.Leu511=)
|
rs2136090156
|
|
NM_024685.4(BBS10):c.1532dup (p.Thr512fs)
|
|
|
NM_024685.4(BBS10):c.1535C>T (p.Thr512Ile)
|
|
|
NM_024685.4(BBS10):c.1540A>G (p.Thr514Ala)
|
|
|
NM_024685.4(BBS10):c.1542A>C (p.Thr514=)
|
|
|
NM_024685.4(BBS10):c.1542del (p.Asp515fs)
|
rs1057517031
|
|
NM_024685.4(BBS10):c.1547del (p.Thr516fs)
|
rs869025211
|
|
NM_024685.4(BBS10):c.1548A>C (p.Thr516=)
|
|
|
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter)
|
rs1951758601
|
|
NM_024685.4(BBS10):c.1556_1557del (p.Thr519fs)
|
rs2136090126
|
|
NM_024685.4(BBS10):c.1557A>G (p.Thr519=)
|
rs2136090123
|
|
NM_024685.4(BBS10):c.155G>A (p.Gly52Asp)
|
|
|
NM_024685.4(BBS10):c.1566G>A (p.Thr522=)
|
rs1200334802
|
|
NM_024685.4(BBS10):c.156C>A (p.Gly52=)
|
rs760758205
|
|
NM_024685.4(BBS10):c.156C>T (p.Gly52=)
|
rs760758205
|
|
NM_024685.4(BBS10):c.1572A>C (p.Thr524=)
|
rs1271927802
|
|
NM_024685.4(BBS10):c.1572A>T (p.Thr524=)
|
|
|
NM_024685.4(BBS10):c.1582T>C (p.Leu528=)
|
|
|
NM_024685.4(BBS10):c.1589G>A (p.Arg530Lys)
|
|
|
NM_024685.4(BBS10):c.158G>C (p.Arg53Pro)
|
|
|
NM_024685.4(BBS10):c.1592A>G (p.Asn531Ser)
|
rs2136090095
|
|
NM_024685.4(BBS10):c.1596G>C (p.Arg532Ser)
|
|
|
NM_024685.4(BBS10):c.1599A>G (p.Leu533=)
|
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1602T>G (p.Thr534=)
|
rs750402316
|
|
NM_024685.4(BBS10):c.1604A>T (p.Asp535Val)
|
rs1951758028
|
|
NM_024685.4(BBS10):c.1606T>C (p.Tyr536His)
|
rs2136090060
|
|
NM_024685.4(BBS10):c.1606T>G (p.Tyr536Asp)
|
|
|
NM_024685.4(BBS10):c.1618T>C (p.Leu540=)
|
|
|
NM_024685.4(BBS10):c.1619T>G (p.Leu540Ter)
|
|
|
NM_024685.4(BBS10):c.1620A>G (p.Leu540=)
|
rs1592491670
|
|
NM_024685.4(BBS10):c.1623C>G (p.Leu541=)
|
rs2136090043
|
|
NM_024685.4(BBS10):c.1623C>T (p.Leu541=)
|
|
|
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
|
|
|
NM_024685.4(BBS10):c.162C>T (p.Leu54=)
|
|
|
NM_024685.4(BBS10):c.1634C>G (p.Ser545Cys)
|
|
|
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp)
|
rs770880993
|
|
NM_024685.4(BBS10):c.1641T>A (p.Ala547=)
|
|
|
NM_024685.4(BBS10):c.1641T>G (p.Ala547=)
|
rs2136090029
|
|
NM_024685.4(BBS10):c.1654G>T (p.Gly552Ter)
|
rs2136090024
|
|
NM_024685.4(BBS10):c.1656A>C (p.Gly552=)
|
rs2136090019
|
|
NM_024685.4(BBS10):c.165G>A (p.Leu55=)
|
|
|
NM_024685.4(BBS10):c.1664T>C (p.Ile555Thr)
|
|
|
NM_024685.4(BBS10):c.1667A>G (p.Glu556Gly)
|
|
|
NM_024685.4(BBS10):c.166G>C (p.Glu56Gln)
|
|
|
NM_024685.4(BBS10):c.1673_1675del (p.Ser558del)
|
|
|
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)
|
rs1565809478
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1677C>T (p.Tyr559=)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1683T>C (p.Asn561=)
|
|
|
NM_024685.4(BBS10):c.1684T>C (p.Leu562=)
|
rs111773727
|
|
NM_024685.4(BBS10):c.1684T>G (p.Leu562Val)
|
|
|
NM_024685.4(BBS10):c.1686A>G (p.Leu562=)
|
|
|
NM_024685.4(BBS10):c.168G>A (p.Glu56=)
|
|
|
NM_024685.4(BBS10):c.1695A>G (p.Thr565=)
|
rs1361225928
|
|
NM_024685.4(BBS10):c.1696A>C (p.Asn566His)
|
rs144402299
|
|
NM_024685.4(BBS10):c.1698T>C (p.Asn566=)
|
|
|
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
|
|
|
NM_024685.4(BBS10):c.1704T>C (p.Thr568=)
|
|
|
NM_024685.4(BBS10):c.1716C>T (p.Ser572=)
|
|
|
NM_024685.4(BBS10):c.171G>A (p.Ala57=)
|
|
|
NM_024685.4(BBS10):c.171G>C (p.Ala57=)
|
|
|
NM_024685.4(BBS10):c.1724C>T (p.Pro575Leu)
|
|
|
NM_024685.4(BBS10):c.1724del (p.Pro575fs)
|
rs1057516754
|
|
NM_024685.4(BBS10):c.1725A>C (p.Pro575=)
|
|
|
NM_024685.4(BBS10):c.1740A>G (p.Leu580=)
|
rs2136089948
|
|
NM_024685.4(BBS10):c.1747A>G (p.Met583Val)
|
rs2136089937
|
|
NM_024685.4(BBS10):c.174A>G (p.Leu58=)
|
rs2136091515
|
|
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
NM_024685.4(BBS10):c.1767C>G (p.Tyr589Ter)
|
|
|
NM_024685.4(BBS10):c.1773C>G (p.Ser591=)
|
|
|
NM_024685.4(BBS10):c.1780A>G (p.Met594Val)
|
rs1951756219
|
|
NM_024685.4(BBS10):c.178T>C (p.Leu60=)
|
|
|
NM_024685.4(BBS10):c.1790G>T (p.Gly597Val)
|
rs1264836197
|
|
NM_024685.4(BBS10):c.1795_1796del (p.Val599fs)
|
|
|
NM_024685.4(BBS10):c.1799T>C (p.Leu600Ser)
|
|
|
NM_024685.4(BBS10):c.1802C>T (p.Pro601Leu)
|
|
|
NM_024685.4(BBS10):c.1806A>G (p.Val602=)
|
rs1951756000
|
|
NM_024685.4(BBS10):c.1807G>T (p.Gly603Cys)
|
|
|
NM_024685.4(BBS10):c.1809T>C (p.Gly603=)
|
rs2136089890
|
|
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
|
|
|
NM_024685.4(BBS10):c.1811G>C (p.Gly604Ala)
|
rs1951755940
|
|
NM_024685.4(BBS10):c.1812T>C (p.Gly604=)
|
|
|
NM_024685.4(BBS10):c.1812dup (p.Asn605Ter)
|
|
|
NM_024685.4(BBS10):c.1814_1815del (p.Asn605fs)
|
rs2136089877
|
|
NM_024685.4(BBS10):c.1824C>T (p.Ile608=)
|
rs753129922
|
|
NM_024685.4(BBS10):c.1825T>C (p.Leu609=)
|
rs2136089870
|
|
NM_024685.4(BBS10):c.1826T>C (p.Leu609Ser)
|
|
|
NM_024685.4(BBS10):c.1827G>A (p.Leu609=)
|
rs376793096
|
|
NM_024685.4(BBS10):c.1828T>C (p.Leu610=)
|
|
|
NM_024685.4(BBS10):c.1834del (p.Tyr612fs)
|
rs2136089858
|
|
NM_024685.4(BBS10):c.1850A>G (p.Tyr617Cys)
|
rs749876979
|
|
NM_024685.4(BBS10):c.1851T>C (p.Tyr617=)
|
|
|
NM_024685.4(BBS10):c.1854C>T (p.Ala618=)
|
rs2136089834
|
|
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg)
|
rs1951755649
|
|
NM_024685.4(BBS10):c.1869A>G (p.Gln623=)
|
|
|
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)
|
rs768385647
|
|
NM_024685.4(BBS10):c.1871C>T (p.Ser624Leu)
|
rs768385647
|
|
NM_024685.4(BBS10):c.187C>A (p.Pro63Thr)
|
rs371540031
|
|
NM_024685.4(BBS10):c.187C>G (p.Pro63Ala)
|
|
|
NM_024685.4(BBS10):c.188C>T (p.Pro63Leu)
|
rs2136091508
|
|
NM_024685.4(BBS10):c.1891A>G (p.Met631Val)
|
|
|
NM_024685.4(BBS10):c.1892_1896del (p.Met631fs)
|
|
|
NM_024685.4(BBS10):c.1896A>G (p.Ile632Met)
|
|
|
NM_024685.4(BBS10):c.1899A>T (p.Ile633=)
|
|
|
NM_024685.4(BBS10):c.1901C>G (p.Ala634Gly)
|
rs12099880
|
|
NM_024685.4(BBS10):c.1907C>T (p.Ala636Val)
|
rs113224628
|
|
NM_024685.4(BBS10):c.1909C>A (p.Leu637Ile)
|
rs777954013
|
|
NM_024685.4(BBS10):c.1909C>G (p.Leu637Val)
|
rs777954013
|
|
NM_024685.4(BBS10):c.1912T>C (p.Leu638=)
|
|
|
NM_024685.4(BBS10):c.1915G>A (p.Gly639Ser)
|
|
|
NM_024685.4(BBS10):c.1917C>G (p.Gly639=)
|
|
|
NM_024685.4(BBS10):c.1925A>G (p.Lys642Arg)
|
|
|
NM_024685.4(BBS10):c.1929C>A (p.Val643=)
|
|
|
NM_024685.4(BBS10):c.1929C>T (p.Val643=)
|
rs779691612
|
|
NM_024685.4(BBS10):c.1930C>T (p.Leu644Phe)
|
|
|
NM_024685.4(BBS10):c.1941T>C (p.Ser647=)
|
rs749965019
|
|
NM_024685.4(BBS10):c.1941T>G (p.Ser647=)
|
rs749965019
|
|
NM_024685.4(BBS10):c.1944A>G (p.Lys648=)
|
|
|
NM_024685.4(BBS10):c.1947A>G (p.Thr649=)
|
rs2136089752
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.1950A>C (p.Gly650=)
|
rs1369234749
|
|
NM_024685.4(BBS10):c.1953G>A (p.Lys651=)
|
|
|
NM_024685.4(BBS10):c.1956C>T (p.Tyr652=)
|
rs1951754581
|
|
NM_024685.4(BBS10):c.1959del (p.Pro655fs)
|
rs1057516628
|
|
NM_024685.4(BBS10):c.1964C>T (p.Pro655Leu)
|
|
|
NM_024685.4(BBS10):c.197+18G>A
|
|
|
NM_024685.4(BBS10):c.197+1G>A
|
rs886042729
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.197+20T>A
|
|
|
NM_024685.4(BBS10):c.197+7G>T
|
rs1433969081
|
|
NM_024685.4(BBS10):c.1971A>G (p.Thr657=)
|
rs2136089728
|
|
NM_024685.4(BBS10):c.1971_1975del (p.Tyr658fs)
|
|
|
NM_024685.4(BBS10):c.1973A>G (p.Tyr658Cys)
|
rs886049848
|
|
NM_024685.4(BBS10):c.1975A>G (p.Ile659Val)
|
|
|
NM_024685.4(BBS10):c.197G>A (p.Arg66Lys)
|
|
|
NM_024685.4(BBS10):c.198-12T>G
|
rs1951774646
|
|
NM_024685.4(BBS10):c.198-12dup
|
rs764036894
|
|
NM_024685.4(BBS10):c.198-17A>G
|
|
|
NM_024685.4(BBS10):c.198-17_198-14del
|
rs776677235
|
|
NM_024685.4(BBS10):c.198-18T>G
|
|
|
NM_024685.4(BBS10):c.198-19T>G
|
|
|
NM_024685.4(BBS10):c.198-6G>A
|
rs746527914
|
|
NM_024685.4(BBS10):c.198-7T>C
|
rs2136091344
|
|
NM_024685.4(BBS10):c.198-7del
|
|
|
NM_024685.4(BBS10):c.198-8T>C
|
|
|
NM_024685.4(BBS10):c.198-9T>G
|
rs2136091348
|
|
NM_024685.4(BBS10):c.1980A>T (p.Arg660Ser)
|
|
|
NM_024685.4(BBS10):c.1989T>C (p.His663=)
|
|
|
NM_024685.4(BBS10):c.198G>A (p.Arg66=)
|
|
|
NM_024685.4(BBS10):c.199A>G (p.Met67Val)
|
|
|
NM_024685.4(BBS10):c.2002A>G (p.Asn668Asp)
|
|
|
NM_024685.4(BBS10):c.2004T>C (p.Asn668=)
|
|
|
NM_024685.4(BBS10):c.2010C>T (p.Pro670=)
|
|
|
NM_024685.4(BBS10):c.2030del (p.Gly677fs)
|
rs1064796315
|
|
NM_024685.4(BBS10):c.2031T>G (p.Gly677=)
|
|
|
NM_024685.4(BBS10):c.2039C>T (p.Ser680Leu)
|
|
|
NM_024685.4(BBS10):c.203T>C (p.Ile68Thr)
|
rs750428156
|
|
NM_024685.4(BBS10):c.2040A>G (p.Ser680=)
|
rs1201858558
|
|
NM_024685.4(BBS10):c.2044dup (p.Met682fs)
|
rs2136089682
|
|
NM_024685.4(BBS10):c.2049T>A (p.Gly683=)
|
|
|
NM_024685.4(BBS10):c.2052del (p.Lys684fs)
|
rs1951753726
|
|
NM_024685.4(BBS10):c.2055C>T (p.Tyr685=)
|
rs752574665
|
|
NM_024685.4(BBS10):c.2057A>G (p.Gln686Arg)
|
|
|
NM_024685.4(BBS10):c.2059C>T (p.Leu687=)
|
rs968389636
|
|
NM_024685.4(BBS10):c.2061A>G (p.Leu687=)
|
|
|
NM_024685.4(BBS10):c.2062C>T (p.Leu688=)
|
|
|
NM_024685.4(BBS10):c.2070A>T (p.Ser690=)
|
|
|
NM_024685.4(BBS10):c.2085G>A (p.Leu695=)
|
rs2136089656
|
|
NM_024685.4(BBS10):c.2091A>C (p.Lys697Asn)
|
rs1565809262
|
|
NM_024685.4(BBS10):c.2095T>C (p.Leu699=)
|
|
|
NM_024685.4(BBS10):c.2095T>G (p.Leu699Val)
|
|
|
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly)
|
rs529208223
|
|
NM_024685.4(BBS10):c.2103T>C (p.Ile701=)
|
rs2136089643
|
|
NM_024685.4(BBS10):c.2106C>T (p.Asp702=)
|
|
|
NM_024685.4(BBS10):c.2107A>G (p.Met703Val)
|
|
|
NM_024685.4(BBS10):c.210C>T (p.Asp70=)
|
rs757062257
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs)
|
rs1951753208
|
|
NM_024685.4(BBS10):c.2130C>T (p.His710=)
|
|
|
NM_024685.4(BBS10):c.2139A>G (p.Lys713=)
|
rs2136089616
|
|
NM_024685.4(BBS10):c.2144A>C (p.His715Pro)
|
|
|
NM_024685.4(BBS10):c.2146A>C (p.Asn716His)
|
rs1951753000
|
|
NM_024685.4(BBS10):c.2167C>G (p.Leu723Val)
|
rs1003705267
|
|
NM_024685.4(BBS10):c.2167C>T (p.Leu723=)
|
rs1003705267
|
|
NM_024685.4(BBS10):c.221G>T (p.Ser74Ile)
|
|
|
NM_024685.4(BBS10):c.22G>T (p.Ala8Ser)
|
|
|
NM_024685.4(BBS10):c.235del (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.23C>G (p.Ala8Gly)
|
rs1216242140
|
|
NM_024685.4(BBS10):c.246T>G (p.Gly82=)
|
|
|
NM_024685.4(BBS10):c.252A>G (p.Lys84=)
|
|
|
NM_024685.4(BBS10):c.253del (p.Thr85fs)
|
|
|
NM_024685.4(BBS10):c.257_261del (p.Phe86fs)
|
rs1060500996
|
|
NM_024685.4(BBS10):c.258del (p.Phe86fs)
|
rs1951773957
|
|
NM_024685.4(BBS10):c.264C>A (p.Ile88=)
|
|
|
NM_024685.4(BBS10):c.264C>T (p.Ile88=)
|
|
|
NM_024685.4(BBS10):c.268C>G (p.Leu90Val)
|
|
|
NM_024685.4(BBS10):c.270T>C (p.Leu90=)
|
rs200390697
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.273C>T (p.Cys91=)
|
|
|
NM_024685.4(BBS10):c.27G>C (p.Gly9=)
|
|
|
NM_024685.4(BBS10):c.27_37del (p.Ser10fs)
|
rs1278460471
|
|
NM_024685.4(BBS10):c.284G>C (p.Arg95Thr)
|
|
|
NM_024685.4(BBS10):c.288A>G (p.Gly96=)
|
rs2136091268
|
|
NM_024685.4(BBS10):c.2T>C (p.Met1Thr)
|
rs1382481529
|
|
NM_024685.4(BBS10):c.2_5del (p.Met1fs)
|
|
|
NM_024685.4(BBS10):c.301A>G (p.Thr101Ala)
|
|
|
NM_024685.4(BBS10):c.306_309del (p.Asp102fs)
|
rs745497072
|
|
NM_024685.4(BBS10):c.308_312del (p.Arg103fs)
|
|
|
NM_024685.4(BBS10):c.309A>G (p.Arg103=)
|
rs745374133
|
|
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)
|
rs2136091244
|
|
NM_024685.4(BBS10):c.313_314del (p.Lys105fs)
|
rs2136091240
|
|
NM_024685.4(BBS10):c.315G>A (p.Lys105=)
|
|
|
NM_024685.4(BBS10):c.317A>C (p.Asp106Ala)
|
|
|
NM_024685.4(BBS10):c.326T>C (p.Met109Thr)
|
rs2136091232
|
|
NM_024685.4(BBS10):c.329G>A (p.Cys110Tyr)
|
rs2136091229
|
|
NM_024685.4(BBS10):c.336C>T (p.Asn112=)
|
rs1951771752
|
|
NM_024685.4(BBS10):c.340C>G (p.Gln114Glu)
|
|
|
NM_024685.4(BBS10):c.350G>A (p.Gly117Glu)
|
rs1951771611
|
|
NM_024685.4(BBS10):c.350G>C (p.Gly117Ala)
|
rs1951771611
|
|
NM_024685.4(BBS10):c.357T>C (p.His119=)
|
rs201401485
|
|
NM_024685.4(BBS10):c.358T>C (p.Trp120Arg)
|
|
|
NM_024685.4(BBS10):c.35dup (p.Ala13fs)
|
rs2136091633
|
|
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter)
|
rs1951771573
|
|
NM_024685.4(BBS10):c.365dup (p.Asn122fs)
|
rs774095109
|
|
NM_024685.4(BBS10):c.368G>A (p.Cys123Tyr)
|
rs2136091207
|
|
NM_024685.4(BBS10):c.36G>A (p.Lys12=)
|
rs2136091631
|
|
NM_024685.4(BBS10):c.373C>T (p.Arg125Trp)
|
|
|
NM_024685.4(BBS10):c.381A>G (p.Lys127=)
|
|
|
NM_024685.4(BBS10):c.383T>C (p.Phe128Ser)
|
rs1592492746
|
|
NM_024685.4(BBS10):c.390C>T (p.Ser130=)
|
|
|
NM_024685.4(BBS10):c.391C>T (p.Gln131Ter)
|
rs1565810183
|
|
NM_024685.4(BBS10):c.391del (p.Gln131fs)
|
|
|
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe)
|
rs750446869
|
|
NM_024685.4(BBS10):c.39_46del (p.Ala14fs)
|
rs1555202806
|
|
NM_024685.4(BBS10):c.406T>C (p.Phe136Leu)
|
rs769181256
|
|
NM_024685.4(BBS10):c.409C>T (p.Gln137Ter)
|
rs2136091166
|
|
NM_024685.4(BBS10):c.414A>C (p.Thr138=)
|
|
|
NM_024685.4(BBS10):c.415C>T (p.Gln139Ter)
|
|
|
NM_024685.4(BBS10):c.421T>C (p.Leu141=)
|
rs2136091159
|
|
NM_024685.4(BBS10):c.426C>T (p.Asp142=)
|
rs770799633
|
|
NM_024685.4(BBS10):c.439C>T (p.Gln147Ter)
|
rs199998327
|
|
NM_024685.4(BBS10):c.445C>T (p.Leu149=)
|
rs758553544
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
NM_024685.4(BBS10):c.448_449insAGGT (p.Ser150fs)
|
|
|
NM_024685.4(BBS10):c.450T>G (p.Ser150Arg)
|
rs573346325
|
|
NM_024685.4(BBS10):c.455A>G (p.His152Arg)
|
|
|
NM_024685.4(BBS10):c.455_456del (p.His152fs)
|
rs2136091120
|
|
NM_024685.4(BBS10):c.460T>C (p.Leu154=)
|
rs754415474
|
|
NM_024685.4(BBS10):c.466_467del (p.Ile156fs)
|
|
|
NM_024685.4(BBS10):c.467del (p.Ile156fs)
|
rs2136091103
|
|
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
|
rs553291328
|
|
NM_024685.4(BBS10):c.473C>G (p.Ser158Trp)
|
|
|
NM_024685.4(BBS10):c.474G>A (p.Ser158=)
|
rs375436323
|
|
NM_024685.4(BBS10):c.477T>A (p.Ser159=)
|
|
|
NM_024685.4(BBS10):c.481A>G (p.Lys161Glu)
|
|
|
NM_024685.4(BBS10):c.482_497del (p.Lys161fs)
|
|
|
NM_024685.4(BBS10):c.483dup (p.Glu162fs)
|
|
|
NM_024685.4(BBS10):c.490A>C (p.Thr164Pro)
|
|
|
NM_024685.4(BBS10):c.490dup (p.Thr164fs)
|
rs2136091086
|
|
NM_024685.4(BBS10):c.496dup (p.Cys166fs)
|
|
|
NM_024685.4(BBS10):c.501G>C (p.Arg167Ser)
|
|
|
NM_024685.4(BBS10):c.504C>G (p.Ser168Arg)
|
|
|
NM_024685.4(BBS10):c.510A>G (p.Leu170=)
|
rs2136091058
|
|
NM_024685.4(BBS10):c.513G>A (p.Glu171=)
|
|
|
NM_024685.4(BBS10):c.522A>G (p.Leu174=)
|
rs2136091055
|
|
NM_024685.4(BBS10):c.524_526del (p.Glu175del)
|
rs2136091044
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024685.4(BBS10):c.534T>C (p.Phe178=)
|
|
|
NM_024685.4(BBS10):c.544G>C (p.Val182Leu)
|
rs890996897
|
|
NM_024685.4(BBS10):c.54C>A (p.Ala18=)
|
rs772653493
|
|
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln)
|
rs1001512051
|
|
NM_024685.4(BBS10):c.563A>T (p.Lys188Ile)
|
rs1239540905
|
|
NM_024685.4(BBS10):c.564A>G (p.Lys188=)
|
rs1951768043
|
|
NM_024685.4(BBS10):c.568_571del (p.Ile190fs)
|
rs1057516266
|
|
NM_024685.4(BBS10):c.572C>T (p.Ser191Leu)
|
rs1951767969
|
|
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)
|
rs1057517184
|
|
NM_024685.4(BBS10):c.575A>C (p.Gln192Pro)
|
|
|
NM_024685.4(BBS10):c.577T>C (p.Leu193=)
|
rs1951767890
|
|
NM_024685.4(BBS10):c.579G>A (p.Leu193=)
|
rs2136091005
|
|
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.597C>T (p.Phe199=)
|
|
|
NM_024685.4(BBS10):c.598A>T (p.Lys200Ter)
|
rs1951767589
|
|
NM_024685.4(BBS10):c.59T>C (p.Val20Ala)
|
|
|
NM_024685.4(BBS10):c.600G>A (p.Lys200=)
|
|
|
NM_024685.4(BBS10):c.60G>C (p.Val20=)
|
|
|
NM_024685.4(BBS10):c.60G>T (p.Val20=)
|
|
|
NM_024685.4(BBS10):c.621G>A (p.Gly207=)
|
rs2136090980
|
|
NM_024685.4(BBS10):c.625G>T (p.Gly209Cys)
|
rs1396355979
|
|
NM_024685.4(BBS10):c.627T>A (p.Gly209=)
|
rs2136090970
|
|
NM_024685.4(BBS10):c.62T>C (p.Leu21Pro)
|
|
|
NM_024685.4(BBS10):c.630A>G (p.Val210=)
|
rs759791957
|
|
NM_024685.4(BBS10):c.643_655del (p.Val214_Asp215insTer)
|
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
NM_024685.4(BBS10):c.647A>C (p.Asp216Ala)
|
|
|
NM_024685.4(BBS10):c.648C>A (p.Asp216Glu)
|
|
|
NM_024685.4(BBS10):c.648C>T (p.Asp216=)
|
rs748037727
|
|
NM_024685.4(BBS10):c.650A>G (p.His217Arg)
|
|
|
NM_024685.4(BBS10):c.655G>A (p.Val219Ile)
|
|
|
NM_024685.4(BBS10):c.655G>T (p.Val219Leu)
|
|
|
NM_024685.4(BBS10):c.663G>A (p.Leu221=)
|
|
|
NM_024685.4(BBS10):c.671G>C (p.Gly224Ala)
|
|
|
NM_024685.4(BBS10):c.684T>C (p.Leu228=)
|
|
|
NM_024685.4(BBS10):c.685C>A (p.Pro229Thr)
|
|
|
NM_024685.4(BBS10):c.687T>A (p.Pro229=)
|
|
|
NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)
|
|
|
NM_024685.4(BBS10):c.69C>T (p.Ala23=)
|
rs2136091596
|
|
NM_024685.4(BBS10):c.700A>G (p.Arg234Gly)
|
|
|
NM_024685.4(BBS10):c.702G>A (p.Arg234=)
|
|
|
NM_024685.4(BBS10):c.706A>T (p.Ile236Leu)
|
|
|
NM_024685.4(BBS10):c.708A>G (p.Ile236Met)
|
rs1193290653
|
|
NM_024685.4(BBS10):c.708_711dup (p.Gly238fs)
|
|
|
NM_024685.4(BBS10):c.711T>C (p.Ala237=)
|
|
|
NM_024685.4(BBS10):c.725_737del (p.Gln242fs)
|
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.72C>T (p.Ile24=)
|
rs754188249
|
|
NM_024685.4(BBS10):c.738T>C (p.Ser246=)
|
|
|
NM_024685.4(BBS10):c.745C>T (p.Arg249Cys)
|
rs1242888821
|
|
NM_024685.4(BBS10):c.750A>G (p.Pro250=)
|
rs2136090884
|
|
NM_024685.4(BBS10):c.752C>A (p.Ala251Glu)
|
|
|
NM_024685.4(BBS10):c.762C>T (p.Asp254=)
|
rs2136090876
|
|
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter)
|
rs1156913215
|
|
NM_024685.4(BBS10):c.767G>T (p.Arg256Leu)
|
|
|
NM_024685.4(BBS10):c.791T>G (p.Ile264Ser)
|
rs1236502453
|
|
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter)
|
rs775090151
|
|
NM_024685.4(BBS10):c.796C>G (p.Pro266Ala)
|
|
|
NM_024685.4(BBS10):c.797C>T (p.Pro266Leu)
|
|
|
NM_024685.4(BBS10):c.800T>A (p.Leu267His)
|
rs1592492358
|
|
NM_024685.4(BBS10):c.801T>G (p.Leu267=)
|
|
|
NM_024685.4(BBS10):c.804T>C (p.Phe268=)
|
rs770050659
|
|
NM_024685.4(BBS10):c.804_805del (p.Ser269fs)
|
rs1472533012
|
|
NM_024685.4(BBS10):c.805dup (p.Ser269fs)
|
|
|
NM_024685.4(BBS10):c.813T>C (p.Ser271=)
|
|
|
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala)
|
rs781723681
|
|
NM_024685.4(BBS10):c.816A>G (p.Gly272=)
|
|
|
NM_024685.4(BBS10):c.837A>G (p.Ser279=)
|
rs2136090820
|
|
NM_024685.4(BBS10):c.83G>C (p.Cys28Ser)
|
|
|
NM_024685.4(BBS10):c.843A>C (p.Ala281=)
|
|
|
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)
|
rs1476664656
|
|
NM_024685.4(BBS10):c.855A>T (p.Thr285=)
|
rs1951765525
|
|
NM_024685.4(BBS10):c.858T>C (p.Ser286=)
|
rs1592492325
|
|
NM_024685.4(BBS10):c.864_872del (p.Phe288_Met291delinsLeu)
|
|
|
NM_024685.4(BBS10):c.876A>G (p.Glu292=)
|
rs2136090796
|
|
NM_024685.4(BBS10):c.879G>A (p.Lys293=)
|
rs2136090790
|
|
NM_024685.4(BBS10):c.881C>T (p.Thr294Ile)
|
|
|
NM_024685.4(BBS10):c.883A>T (p.Lys295Ter)
|
rs2136090788
|
|
NM_024685.4(BBS10):c.894_897dup (p.His300fs)
|
|
|
NM_024685.4(BBS10):c.901C>G (p.Leu301Val)
|
rs1555202666
|
|
NM_024685.4(BBS10):c.903A>G (p.Leu301=)
|
rs2136090772
|
|
NM_024685.4(BBS10):c.904C>T (p.His302Tyr)
|
rs954562822
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024685.4(BBS10):c.912G>A (p.Gln304=)
|
|
|
NM_024685.4(BBS10):c.91C>T (p.Pro31Ser)
|
|
|
NM_024685.4(BBS10):c.925C>T (p.Leu309Phe)
|
rs2136090757
|
|
NM_024685.4(BBS10):c.927C>G (p.Leu309=)
|
|
|
NM_024685.4(BBS10):c.92C>T (p.Pro31Leu)
|
rs1486182131
|
|
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)
|
rs137852837
|
|
NM_024685.4(BBS10):c.932C>T (p.Ser311Phe)
|
rs1951764875
|
|
NM_024685.4(BBS10):c.933T>C (p.Ser311=)
|
|
|
NM_024685.4(BBS10):c.93C>T (p.Pro31=)
|
|
|
NM_024685.4(BBS10):c.945A>G (p.Gln315=)
|
rs2136090742
|
|
NM_024685.4(BBS10):c.946C>G (p.Pro316Ala)
|
rs2136090741
|
|
NM_024685.4(BBS10):c.94G>A (p.Glu32Lys)
|
rs1208975003
|
|
NM_024685.4(BBS10):c.951T>C (p.Asp317=)
|
|
|
NM_024685.4(BBS10):c.953del (p.Asp317_Leu318insTer)
|
rs2136090739
|
|
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)
|
rs758522600
|
|
NM_024685.4(BBS10):c.963T>C (p.Tyr321=)
|
rs1555202662
|
|
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter)
|
rs1555202662
|
|
NM_024685.4(BBS10):c.967G>T (p.Ala323Ser)
|
|
|
NM_024685.4(BBS10):c.968C>T (p.Ala323Val)
|
|
|
NM_024685.4(BBS10):c.969A>C (p.Ala323=)
|
|
|
NM_024685.4(BBS10):c.975G>A (p.Val325=)
|
|
|
NM_024685.4(BBS10):c.999T>A (p.Cys333Ter)
|
rs1565809867
|
|
NM_024685.4(BBS10):c.999T>C (p.Cys333=)
|
rs1565809867
|
|
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
|
|
|
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg)
|
rs750665609
|
|
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)
|
rs2136091654
|
|
NM_031885.5(BBS2):c.1006G>A (p.Asp336Asn)
|
|
|
NM_031885.5(BBS2):c.1008C>T (p.Asp336=)
|
rs2144148893
|
|
NM_031885.5(BBS2):c.1014C>T (p.Ile338=)
|
|
|
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710
|
|
NM_031885.5(BBS2):c.1015del (p.Arg339fs)
|
|
|
NM_031885.5(BBS2):c.1033A>C (p.Lys345Gln)
|
|
|
NM_031885.5(BBS2):c.1038G>A (p.Gln346=)
|
|
|
NM_031885.5(BBS2):c.1042C>T (p.Leu348=)
|
|
|
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys)
|
rs1567576202
|
|
NM_031885.5(BBS2):c.1064A>T (p.Tyr355Phe)
|
rs1477561197
|
|
NM_031885.5(BBS2):c.1065T>C (p.Tyr355=)
|
rs2144148677
|
|
NM_031885.5(BBS2):c.1080+10G>A
|
|
|
NM_031885.5(BBS2):c.1080+10G>C
|
rs2144148576
|
|
NM_031885.5(BBS2):c.1080+11G>T
|
|
|
NM_031885.5(BBS2):c.1080+18T>C
|
|
|
NM_031885.5(BBS2):c.1080+18dup
|
|
|
NM_031885.5(BBS2):c.1080+8T>G
|
|
|
NM_031885.5(BBS2):c.1080+9A>G
|
|
|
NM_031885.5(BBS2):c.1081-14G>C
|
|
|
NM_031885.5(BBS2):c.1081-16G>A
|
|
|
NM_031885.5(BBS2):c.1081-1G>A
|
rs1555522000
|
|
NM_031885.5(BBS2):c.1083T>A (p.Ala361=)
|
rs951758684
|
|
NM_031885.5(BBS2):c.1099C>T (p.Leu367=)
|
rs1245174214
|
|
NM_031885.5(BBS2):c.109A>G (p.Thr37Ala)
|
rs1284353332
|
|
NM_031885.5(BBS2):c.1108G>A (p.Ala370Thr)
|
rs1597015825
|
|
NM_031885.5(BBS2):c.110del (p.Thr37fs)
|
rs2144214319
|
|
NM_031885.5(BBS2):c.1112A>T (p.Asp371Val)
|
rs1366351316
|
|
NM_031885.5(BBS2):c.1118A>G (p.His373Arg)
|
rs886052146
|
|
NM_031885.5(BBS2):c.111G>T (p.Thr37=)
|
rs191867233
|
|
NM_031885.5(BBS2):c.1121G>A (p.Arg374Gln)
|
|
|
NM_031885.5(BBS2):c.113G>A (p.Gly38Asp)
|
rs748872389
|
|
NM_031885.5(BBS2):c.113del (p.Gly38fs)
|
rs2144214277
|
|
NM_031885.5(BBS2):c.1142C>T (p.Thr381Ile)
|
|
|
NM_031885.5(BBS2):c.1146G>A (p.Arg382=)
|
|
|
NM_031885.5(BBS2):c.1148_1149dup (p.His384fs)
|
|
|
NM_031885.5(BBS2):c.1150C>A (p.His384Asn)
|
rs2144145489
|
|
NM_031885.5(BBS2):c.1158G>A (p.Thr386=)
|
rs199944942
|
|
NM_031885.5(BBS2):c.1161C>G (p.Leu387=)
|
rs71387119
|
|
NM_031885.5(BBS2):c.1161C>T (p.Leu387=)
|
rs71387119
|
|
NM_031885.5(BBS2):c.1161del (p.Ser388fs)
|
rs2144145429
|
|
NM_031885.5(BBS2):c.1162_1163del (p.Val389fs)
|
|
|
NM_031885.5(BBS2):c.1163C>A (p.Ser388Ter)
|
|
|
NM_031885.5(BBS2):c.1164A>G (p.Ser388=)
|
rs1425704431
|
|
NM_031885.5(BBS2):c.117+10C>G
|
rs376041093
|
|
NM_031885.5(BBS2):c.117+11C>A
|
|
|
NM_031885.5(BBS2):c.117+12C>T
|
|
|
NM_031885.5(BBS2):c.117+15C>G
|
|
|
NM_031885.5(BBS2):c.117+16C>G
|
|
|
NM_031885.5(BBS2):c.117+16C>T
|
|
|
NM_031885.5(BBS2):c.117+19A>C
|
|
|
NM_031885.5(BBS2):c.117+19A>T
|
|
|
NM_031885.5(BBS2):c.117+6C>G
|
|
|
NM_031885.5(BBS2):c.117+7G>A
|
rs780862523
|
|
NM_031885.5(BBS2):c.117+8C>G
|
rs1474535437
|
|
NM_031885.5(BBS2):c.117+8C>T
|
rs1474535437
|
|
NM_031885.5(BBS2):c.117+9T>C
|
|
|
NM_031885.5(BBS2):c.1171C>T (p.Leu391=)
|
|
|
NM_031885.5(BBS2):c.1179T>C (p.Asn393=)
|
rs2144145352
|
|
NM_031885.5(BBS2):c.1179_1180del (p.Asn393fs)
|
|
|
NM_031885.5(BBS2):c.118-13A>G
|
|
|
NM_031885.5(BBS2):c.118-15T>C
|
|
|
NM_031885.5(BBS2):c.118-16G>T
|
|
|
NM_031885.5(BBS2):c.118-16_118-13del
|
rs758674101
|
|
NM_031885.5(BBS2):c.118-17A>C
|
|
|
NM_031885.5(BBS2):c.118-1G>T
|
|
|
NM_031885.5(BBS2):c.118-2A>C
|
|
|
NM_031885.5(BBS2):c.118-6T>A
|
rs2144193881
|
|
NM_031885.5(BBS2):c.118-8T>G
|
|
|
NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile)
|
rs368138622
|
|
NM_031885.5(BBS2):c.1193C>G (p.Ala398Gly)
|
|
|
NM_031885.5(BBS2):c.1197T>C (p.His399=)
|
|
|
NM_031885.5(BBS2):c.119T>G (p.Val40Gly)
|
rs1964683448
|
|
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
|
rs1964267396
|
|
NM_031885.5(BBS2):c.1208G>A (p.Arg403His)
|
|
|
NM_031885.5(BBS2):c.1208G>C (p.Arg403Pro)
|
rs192007013
|
|
NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu)
|
rs192007013
|
|
NM_031885.5(BBS2):c.1215C>A (p.Ser405=)
|
rs768053787
|
|
NM_031885.5(BBS2):c.1218_1219insGTAATGG (p.Ser407fs)
|
rs2144145120
|
|
NM_031885.5(BBS2):c.1221T>C (p.Ser407=)
|
rs2144145106
|
|
NM_031885.5(BBS2):c.1221_1222insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTCGCATTTCCACTTCT (p.Asn408delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaIleValTyrTer)
|
|
|
NM_031885.5(BBS2):c.1225+10T>A
|
|
|
NM_031885.5(BBS2):c.1225+10T>C
|
rs1597015665
|
|
NM_031885.5(BBS2):c.1225+11A>G
|
|
|
NM_031885.5(BBS2):c.1225+12C>T
|
|
|
NM_031885.5(BBS2):c.1225+14C>T
|
|
|
NM_031885.5(BBS2):c.1225+1del
|
|
|
NM_031885.5(BBS2):c.1225+2T>C
|
|
|
NM_031885.5(BBS2):c.1225+6A>G
|
rs2144145043
|
|
NM_031885.5(BBS2):c.1226-11C>G
|
|
|
NM_031885.5(BBS2):c.1226-4G>A
|
|
|
NM_031885.5(BBS2):c.1226-5T>C
|
rs765486186
|
|
NM_031885.5(BBS2):c.1226-7C>T
|
rs1399847697
|
|
NM_031885.5(BBS2):c.1227C>T (p.Asp409=)
|
rs2144143696
|
|
NM_031885.5(BBS2):c.1230C>T (p.Thr410=)
|
|
|
NM_031885.5(BBS2):c.1242A>G (p.Ala414=)
|
|
|
NM_031885.5(BBS2):c.1260A>G (p.Glu420=)
|
|
|
NM_031885.5(BBS2):c.1264A>G (p.Ile422Val)
|
rs1964254046
|
|
NM_031885.5(BBS2):c.1272A>C (p.Thr424=)
|
rs2144143509
|
|
NM_031885.5(BBS2):c.1296C>T (p.Pro432=)
|
rs2144143413
|
|
NM_031885.5(BBS2):c.1307A>G (p.Asn436Ser)
|
rs1964252649
|
|
NM_031885.5(BBS2):c.1309C>G (p.Leu437Val)
|
|
|
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
|
|
|
NM_031885.5(BBS2):c.1316G>T (p.Ser439Ile)
|
|
|
NM_031885.5(BBS2):c.133C>A (p.Pro45Thr)
|
rs2144193766
|
|
NM_031885.5(BBS2):c.1345A>G (p.Lys449Glu)
|
rs1964251202
|
|
NM_031885.5(BBS2):c.1346_1347del (p.Lys449fs)
|
|
|
NM_031885.5(BBS2):c.1353C>T (p.Val451=)
|
|
|
NM_031885.5(BBS2):c.1368C>T (p.His456=)
|
|
|
NM_031885.5(BBS2):c.1369T>C (p.Leu457=)
|
|
|
NM_031885.5(BBS2):c.1371del (p.Lys458fs)
|
rs2144143132
|
|
NM_031885.5(BBS2):c.1389C>T (p.Tyr463=)
|
|
|
NM_031885.5(BBS2):c.1392A>C (p.Arg464Ser)
|
|
|
NM_031885.5(BBS2):c.1393del (p.Ser465fs)
|
|
|
NM_031885.5(BBS2):c.1397+10T>G
|
|
|
NM_031885.5(BBS2):c.1397+15G>A
|
|
|
NM_031885.5(BBS2):c.1397+1G>A
|
rs1225299095
|
|
NM_031885.5(BBS2):c.1397+2T>C
|
|
|
NM_031885.5(BBS2):c.1397+6_1397+10delinsTAAAG
|
|
|
NM_031885.5(BBS2):c.1397+7C>A
|
rs771297840
|
|
NM_031885.5(BBS2):c.1397+7C>T
|
|
|
NM_031885.5(BBS2):c.1397+9T>C
|
|
|
NM_031885.5(BBS2):c.1398-10T>C
|
|
|
NM_031885.5(BBS2):c.1398-14T>C
|
|
|
NM_031885.5(BBS2):c.1398-4A>G
|
|
|
NM_031885.5(BBS2):c.1398-5C>T
|
rs1393735395
|
|
NM_031885.5(BBS2):c.1398-7G>T
|
rs2144139575
|
|
NM_031885.5(BBS2):c.1410T>C (p.His470=)
|
rs761861062
|
|
NM_031885.5(BBS2):c.1413A>G (p.Val471=)
|
rs35294865
|
|
NM_031885.5(BBS2):c.1416T>C (p.Phe472=)
|
|
|
NM_031885.5(BBS2):c.1419A>G (p.Glu473=)
|
|
|
NM_031885.5(BBS2):c.1421C>T (p.Ser474Leu)
|
|
|
NM_031885.5(BBS2):c.1422G>C (p.Ser474=)
|
|
|
NM_031885.5(BBS2):c.1422G>T (p.Ser474=)
|
rs117033008
|
|
NM_031885.5(BBS2):c.1428A>G (p.Arg476=)
|
rs2144139405
|
|
NM_031885.5(BBS2):c.1431G>A (p.Gln477=)
|
|
|
NM_031885.5(BBS2):c.1437T>G (p.Pro479=)
|
rs747415803
|
|
NM_031885.5(BBS2):c.1440A>C (p.Arg480=)
|
rs2144139348
|
|
NM_031885.5(BBS2):c.1443C>T (p.Phe481=)
|
rs2144139337
|
|
NM_031885.5(BBS2):c.1446C>T (p.Ser482=)
|
|
|
NM_031885.5(BBS2):c.1447A>G (p.Met483Val)
|
rs748721721
|
|
NM_031885.5(BBS2):c.1448T>C (p.Met483Thr)
|
|
|
NM_031885.5(BBS2):c.144G>A (p.Arg48=)
|
|
|
NM_031885.5(BBS2):c.1452T>C (p.Tyr484=)
|
|
|
NM_031885.5(BBS2):c.1454C>G (p.Ala485Gly)
|
|
|
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val)
|
rs376115616
|
|
NM_031885.5(BBS2):c.1455G>A (p.Ala485=)
|
rs749317806
|
|
NM_031885.5(BBS2):c.1465del (p.Leu489fs)
|
|
|
NM_031885.5(BBS2):c.1467G>A (p.Leu489=)
|
|
|
NM_031885.5(BBS2):c.1469A>G (p.Asp490Gly)
|
rs1964211173
|
|
NM_031885.5(BBS2):c.147C>T (p.Asn49=)
|
|
|
NM_031885.5(BBS2):c.1482G>A (p.Glu494=)
|
|
|
NM_031885.5(BBS2):c.1485A>T (p.Pro495=)
|
|
|
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs)
|
rs1363846772
|
|
NM_031885.5(BBS2):c.1492T>A (p.Tyr498Asn)
|
rs1261310336
|
|
NM_031885.5(BBS2):c.1494T>C (p.Tyr498=)
|
rs889525343
|
|
NM_031885.5(BBS2):c.1500C>T (p.Asn500=)
|
rs2144139077
|
|
NM_031885.5(BBS2):c.1506C>A (p.Thr502=)
|
|
|
NM_031885.5(BBS2):c.1512A>G (p.Ala504=)
|
|
|
NM_031885.5(BBS2):c.1514A>G (p.Glu505Gly)
|
|
|
NM_031885.5(BBS2):c.1515A>G (p.Glu505=)
|
|
|
NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln)
|
rs1278932190
|
|
NM_031885.5(BBS2):c.1521A>G (p.Ala507=)
|
|
|
NM_031885.5(BBS2):c.1524G>A (p.Gln508=)
|
rs2144138957
|
|
NM_031885.5(BBS2):c.1527+11C>T
|
|
|
NM_031885.5(BBS2):c.1527+17del
|
|
|
NM_031885.5(BBS2):c.1527+18C>T
|
|
|
NM_031885.5(BBS2):c.1527+19T>G
|
|
|
NM_031885.5(BBS2):c.1527+1G>A
|
rs2144138948
|
|
NM_031885.5(BBS2):c.1527+20C>G
|
|
|
NM_031885.5(BBS2):c.1527+2T>G
|
|
|
NM_031885.5(BBS2):c.1527+3_1527+6del
|
rs1964208752
|
|
NM_031885.5(BBS2):c.1528-16T>C
|
rs1430495735
|
|
NM_031885.5(BBS2):c.1528-19C>A
|
|
|
NM_031885.5(BBS2):c.1528-1G>C
|
rs2144135065
|
|
NM_031885.5(BBS2):c.1528-4C>G
|
|
|
NM_031885.5(BBS2):c.1528-4C>T
|
rs1964177299
|
|
NM_031885.5(BBS2):c.1528-7T>C
|
rs1597013039
|
|
NM_031885.5(BBS2):c.1528-9A>G
|
rs2144135110
|
|
NM_031885.5(BBS2):c.1534G>T (p.Val512Leu)
|
|
|
NM_031885.5(BBS2):c.153T>C (p.His51=)
|
|
|
NM_031885.5(BBS2):c.1540C>T (p.Leu514Phe)
|
|
|
NM_031885.5(BBS2):c.1542C>G (p.Leu514=)
|
|
|
NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys)
|
rs181107019
|
|
NM_031885.5(BBS2):c.1551C>T (p.Asn517=)
|
rs1306411366
|
|
NM_031885.5(BBS2):c.1557G>A (p.Leu519=)
|
rs925476146
|
|
NM_031885.5(BBS2):c.1558T>C (p.Leu520=)
|
rs2144134913
|
|
NM_031885.5(BBS2):c.155T>A (p.Val52Asp)
|
rs2144193671
|
|
NM_031885.5(BBS2):c.1569C>T (p.Asp523=)
|
|
|
NM_031885.5(BBS2):c.156C>T (p.Val52=)
|
rs1468099662
|
|
NM_031885.5(BBS2):c.1572_1575del (p.His525fs)
|
rs2144134877
|
|
NM_031885.5(BBS2):c.1583A>G (p.Asn528Ser)
|
rs2144134843
|
|
NM_031885.5(BBS2):c.1585G>A (p.Ala529Thr)
|
rs1964175201
|
|
NM_031885.5(BBS2):c.1590A>G (p.Pro530=)
|
|
|
NM_031885.5(BBS2):c.1591T>A (p.Phe531Ile)
|
|
|
NM_031885.5(BBS2):c.1599G>A (p.Val533=)
|
|
|
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)
|
rs556899786
|
|
NM_031885.5(BBS2):c.1626C>T (p.Gly542=)
|
|
|
NM_031885.5(BBS2):c.1629C>T (p.His543=)
|
rs2144134595
|
|
NM_031885.5(BBS2):c.162A>G (p.Ala54=)
|
rs2144193619
|
|
NM_031885.5(BBS2):c.1632G>T (p.Leu544=)
|
rs2144134579
|
|
NM_031885.5(BBS2):c.1634A>C (p.His545Pro)
|
rs1461988620
|
|
NM_031885.5(BBS2):c.1649T>C (p.Leu550Pro)
|
rs2144134545
|
|
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs)
|
rs750146549
|
|
NM_031885.5(BBS2):c.1650T>C (p.Leu550=)
|
|
|
NM_031885.5(BBS2):c.1652G>C (p.Ser551Thr)
|
rs1442649485
|
|
NM_031885.5(BBS2):c.1659+10A>G
|
|
|
NM_031885.5(BBS2):c.1659+11A>C
|
|
|
NM_031885.5(BBS2):c.1659+17C>T
|
|
|
NM_031885.5(BBS2):c.165C>T (p.Ser55=)
|
rs2144193611
|
|
NM_031885.5(BBS2):c.1660-13_1660-11del
|
|
|
NM_031885.5(BBS2):c.1660-16T>C
|
|
|
NM_031885.5(BBS2):c.1660-17A>G
|
|
|
NM_031885.5(BBS2):c.1660-17_1660-16del
|
rs762198535
|
|
NM_031885.5(BBS2):c.1660-18T>C
|
|
|
NM_031885.5(BBS2):c.1660-9T>G
|
|
|
NM_031885.5(BBS2):c.1662C>T (p.Ile554=)
|
rs774112668
|
|
NM_031885.5(BBS2):c.1662del (p.Thr555fs)
|
|
|
NM_031885.5(BBS2):c.1662dup (p.Thr555fs)
|
rs2144132870
|
|
NM_031885.5(BBS2):c.1671T>C (p.Asn557=)
|
|
|
NM_031885.5(BBS2):c.1674T>C (p.Thr558=)
|
|
|
NM_031885.5(BBS2):c.1675G>A (p.Asp559Asn)
|
|
|
NM_031885.5(BBS2):c.1682T>C (p.Ile561Thr)
|
|
|
NM_031885.5(BBS2):c.1686T>C (p.Asp562=)
|
rs1382087682
|
|
NM_031885.5(BBS2):c.1690G>A (p.Ala564Thr)
|
rs780747680
|
|
NM_031885.5(BBS2):c.1695T>A (p.Gly565=)
|
|
|
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)
|
rs1555521501
|
|
NM_031885.5(BBS2):c.1716A>G (p.Ala572=)
|
rs2144132647
|
|
NM_031885.5(BBS2):c.1719A>G (p.Ser573=)
|
|
|
NM_031885.5(BBS2):c.1728T>C (p.Ala576=)
|
rs2144132596
|
|
NM_031885.5(BBS2):c.1731T>C (p.Ile577=)
|
|
|
NM_031885.5(BBS2):c.1744G>A (p.Val582Ile)
|
rs2144132540
|
|
NM_031885.5(BBS2):c.1746A>G (p.Val582=)
|
|
|
NM_031885.5(BBS2):c.1750G>A (p.Ala584Thr)
|
|
|
NM_031885.5(BBS2):c.1751C>T (p.Ala584Val)
|
|
|
NM_031885.5(BBS2):c.1752G>A (p.Ala584=)
|
|
|
NM_031885.5(BBS2):c.1758T>C (p.Phe586=)
|
|
|
NM_031885.5(BBS2):c.175del (p.Gln59fs)
|
rs2144193544
|
|
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs)
|
rs1964155109
|
|
NM_031885.5(BBS2):c.1767T>G (p.Tyr589Ter)
|
|
|
NM_031885.5(BBS2):c.1770del (p.Phe590fs)
|
rs193922711
|
|
NM_031885.5(BBS2):c.1776A>G (p.Glu592=)
|
rs2144132413
|
|
NM_031885.5(BBS2):c.1786G>C (p.Val596Leu)
|
|
|
NM_031885.5(BBS2):c.1791A>C (p.Leu597=)
|
rs2144132339
|
|
NM_031885.5(BBS2):c.1791A>T (p.Leu597=)
|
|
|
NM_031885.5(BBS2):c.1794T>A (p.Val598=)
|
|
|
NM_031885.5(BBS2):c.1797+14G>T
|
|
|
NM_031885.5(BBS2):c.1797+17G>A
|
|
|
NM_031885.5(BBS2):c.1797+7del
|
rs764642655
|
|
NM_031885.5(BBS2):c.1797G>A (p.Lys599=)
|
rs1177431007
|
|
NM_031885.5(BBS2):c.1798-10T>C
|
rs1964135497
|
|
NM_031885.5(BBS2):c.1798-16T>C
|
|
|
NM_031885.5(BBS2):c.1798-18A>G
|
|
|
NM_031885.5(BBS2):c.1798-2A>G
|
rs2144130282
|
|
NM_031885.5(BBS2):c.1800G>T (p.Val600=)
|
|
|
NM_031885.5(BBS2):c.1800_1801insT (p.Asp601Ter)
|
|
|
NM_031885.5(BBS2):c.1806A>G (p.Glu602=)
|
rs1597011884
|
|
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs)
|
rs1964134678
|
|
NM_031885.5(BBS2):c.180C>T (p.Ser60=)
|
|
|
NM_031885.5(BBS2):c.1810C>T (p.His604Tyr)
|
|
|
NM_031885.5(BBS2):c.1811_1821del (p.His604fs)
|
|
|
NM_031885.5(BBS2):c.1812T>C (p.His604=)
|
|
|
NM_031885.5(BBS2):c.1816G>T (p.Val606Leu)
|
rs930659537
|
|
NM_031885.5(BBS2):c.1818G>A (p.Val606=)
|
rs1964134267
|
|
NM_031885.5(BBS2):c.1822C>T (p.Gln608Ter)
|
|
|
NM_031885.5(BBS2):c.1836T>C (p.Ala612=)
|
|
|
NM_031885.5(BBS2):c.1839T>C (p.Asp613=)
|
|
|
NM_031885.5(BBS2):c.1840A>G (p.Met614Val)
|
|
|
NM_031885.5(BBS2):c.1841T>C (p.Met614Thr)
|
|
|
NM_031885.5(BBS2):c.1843dup (p.Ala615fs)
|
rs1199538371
|
|
NM_031885.5(BBS2):c.1845T>C (p.Ala615=)
|
rs1964133464
|
|
NM_031885.5(BBS2):c.1847A>T (p.Asp616Val)
|
|
|
NM_031885.5(BBS2):c.1849C>T (p.His617Tyr)
|
rs2144130068
|
|
NM_031885.5(BBS2):c.1857T>C (p.Asn619=)
|
|
|
NM_031885.5(BBS2):c.1865G>A (p.Arg622Gln)
|
|
|
NM_031885.5(BBS2):c.1873C>T (p.Leu625=)
|
rs2144130003
|
|
NM_031885.5(BBS2):c.1878C>G (p.Val626=)
|
|
|
NM_031885.5(BBS2):c.1895G>A (p.Arg632His)
|
rs138043021
|
|
NM_031885.5(BBS2):c.1899G>C (p.Leu633=)
|
|
|
NM_031885.5(BBS2):c.1902G>C (p.Met634Ile)
|
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
NM_031885.5(BBS2):c.1911-10dup
|
|
|
NM_031885.5(BBS2):c.1911-14A>C
|
|
|
NM_031885.5(BBS2):c.1911-1G>A
|
rs1555520256
|
|
NM_031885.5(BBS2):c.1911-1G>C
|
|
|
NM_031885.5(BBS2):c.1911-6G>A
|
rs1000103343
|
|
NM_031885.5(BBS2):c.1911-8T>G
|
rs1260335822
|
|
NM_031885.5(BBS2):c.1911-986_1914del
|
|
|
NM_031885.5(BBS2):c.1919T>C (p.Met640Thr)
|
|
|
NM_031885.5(BBS2):c.1922del (p.Lys641fs)
|
|
|
NM_031885.5(BBS2):c.1924A>C (p.Ser642Arg)
|
|
|
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)
|
rs1963758780
|
|
NM_031885.5(BBS2):c.1932T>G (p.Tyr644Ter)
|
rs1044072013
|
|
NM_031885.5(BBS2):c.1943A>G (p.Tyr648Cys)
|
|
|
NM_031885.5(BBS2):c.1944T>C (p.Tyr648=)
|
rs1014315603
|
|
NM_031885.5(BBS2):c.1950T>A (p.Leu650=)
|
|
|
NM_031885.5(BBS2):c.1957G>C (p.Asp653His)
|
|
|
NM_031885.5(BBS2):c.195T>C (p.Asp65=)
|
|
|
NM_031885.5(BBS2):c.1964T>C (p.Leu655Pro)
|
rs2144095663
|
|
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)
|
rs1166717771
|
|
NM_031885.5(BBS2):c.1973A>T (p.Tyr658Phe)
|
rs753656568
|
|
NM_031885.5(BBS2):c.1974T>C (p.Tyr658=)
|
rs895581773
|
|
NM_031885.5(BBS2):c.1974T>G (p.Tyr658Ter)
|
rs895581773
|
|
NM_031885.5(BBS2):c.1981C>G (p.Arg661Gly)
|
|
|
NM_031885.5(BBS2):c.1997_1998del (p.Thr666fs)
|
|
|
NM_031885.5(BBS2):c.1998A>G (p.Thr666=)
|
|
|
NM_031885.5(BBS2):c.2002C>T (p.Leu668=)
|
rs2144095506
|
|
NM_031885.5(BBS2):c.2005T>C (p.Leu669=)
|
|
|
NM_031885.5(BBS2):c.2006T>G (p.Leu669Trp)
|
rs2144095498
|
|
NM_031885.5(BBS2):c.2013C>A (p.Asn671Lys)
|
rs1963755306
|
|
NM_031885.5(BBS2):c.2019A>G (p.Lys673=)
|
|
|
NM_031885.5(BBS2):c.2025A>G (p.Val675=)
|
|
|
NM_031885.5(BBS2):c.2028T>C (p.Asn676=)
|
rs1449284374
|
|
NM_031885.5(BBS2):c.2033C>T (p.Ala678Val)
|
rs1191917991
|
|
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs)
|
rs1555520212
|
|
NM_031885.5(BBS2):c.2044G>A (p.Ala682Thr)
|
rs777000749
|
|
NM_031885.5(BBS2):c.2046A>C (p.Ala682=)
|
rs2144095335
|
|
NM_031885.5(BBS2):c.2049T>A (p.Gly683=)
|
|
|
NM_031885.5(BBS2):c.2051G>A (p.Arg684His)
|
rs138913160
|
|
NM_031885.5(BBS2):c.2055G>A (p.Leu685=)
|
|
|
NM_031885.5(BBS2):c.2059+12_2059+13del
|
rs746917866
|
|
NM_031885.5(BBS2):c.2059+15A>T
|
rs571449292
|
|
NM_031885.5(BBS2):c.2059+19_2059+20insT
|
|
|
NM_031885.5(BBS2):c.2059+1G>T
|
rs2144095211
|
|
NM_031885.5(BBS2):c.2059+7C>T
|
|
|
NM_031885.5(BBS2):c.2059+8T>G
|
|
|
NM_031885.5(BBS2):c.2059G>C (p.Val687Leu)
|
rs754067097
|
|
NM_031885.5(BBS2):c.2060-10T>C
|
rs2144093380
|
|
NM_031885.5(BBS2):c.2060-18A>T
|
|
|
NM_031885.5(BBS2):c.2060-4G>A
|
rs1963731219
|
|
NM_031885.5(BBS2):c.2060-5T>G
|
rs374531370
|
|
NM_031885.5(BBS2):c.2060-6A>G
|
|
|
NM_031885.5(BBS2):c.2060-7T>C
|
|
|
NM_031885.5(BBS2):c.2060-8T>C
|
rs2144093365
|
|
NM_031885.5(BBS2):c.2060-8_2060-5del
|
rs1321033053
|
|
NM_031885.5(BBS2):c.2060-9C>T
|
rs2144093372
|
|
NM_031885.5(BBS2):c.2060-9_2060-7del
|
rs754879154
|
|
NM_031885.5(BBS2):c.2064A>G (p.Gly688=)
|
|
|
NM_031885.5(BBS2):c.2067A>G (p.Lys689=)
|
|
|
NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr)
|
rs1426683547
|
|
NM_031885.5(BBS2):c.2091T>G (p.Ala697=)
|
rs1412519720
|
|
NM_031885.5(BBS2):c.2101G>C (p.Ala701Pro)
|
rs2144093137
|
|
NM_031885.5(BBS2):c.2104_2110del (p.Ile702fs)
|
rs2144093084
|
|
NM_031885.5(BBS2):c.2106T>A (p.Ile702=)
|
|
|
NM_031885.5(BBS2):c.2106T>C (p.Ile702=)
|
rs1314393067
|
|
NM_031885.5(BBS2):c.2108G>A (p.Arg703Gln)
|
rs1963728958
|
|
NM_031885.5(BBS2):c.2108G>T (p.Arg703Leu)
|
|
|
NM_031885.5(BBS2):c.2117A>T (p.Asn706Ile)
|
|
|
NM_031885.5(BBS2):c.2121C>T (p.Ile707=)
|
|
|
NM_031885.5(BBS2):c.2129T>C (p.Leu710Pro)
|
rs1963728191
|
|
NM_031885.5(BBS2):c.212_226del (p.Ile71_Val75del)
|
|
|
NM_031885.5(BBS2):c.2130G>A (p.Leu710=)
|
|
|
NM_031885.5(BBS2):c.2139C>T (p.Ile713=)
|
rs764866796
|
|
NM_031885.5(BBS2):c.213T>A (p.Ile71=)
|
rs2144193392
|
|
NM_031885.5(BBS2):c.213T>C (p.Ile71=)
|
rs2144193392
|
|
NM_031885.5(BBS2):c.2151G>A (p.Gly717=)
|
|
|
NM_031885.5(BBS2):c.2157T>G (p.Ala719=)
|
rs1380327569
|
|
NM_031885.5(BBS2):c.2160T>C (p.Ser720=)
|
rs2144092904
|
|
NM_031885.5(BBS2):c.216C>T (p.Asn72=)
|
rs375853147
|
|
NM_031885.5(BBS2):c.217C>G (p.Gln73Glu)
|
|
|
NM_031885.5(BBS2):c.21C>T (p.Thr7=)
|
rs1311176453
|
|
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)
|
rs121908174
|
|
NM_031885.5(BBS2):c.227G>C (p.Ser76Thr)
|
rs895169510
|
|
NM_031885.5(BBS2):c.235A>C (p.Thr79Pro)
|
rs1387025330
|
|
NM_031885.5(BBS2):c.237T>A (p.Thr79=)
|
rs756639098
|
|
NM_031885.5(BBS2):c.239C>T (p.Ala80Val)
|
rs1964679008
|
|
NM_031885.5(BBS2):c.240A>G (p.Ala80=)
|
|
|
NM_031885.5(BBS2):c.243C>A (p.Gly81=)
|
rs368760651
|
|
NM_031885.5(BBS2):c.243C>T (p.Gly81=)
|
|
|
NM_031885.5(BBS2):c.247T>C (p.Leu83=)
|
rs1567584842
|
|
NM_031885.5(BBS2):c.24G>A (p.Leu8=)
|
|
|
NM_031885.5(BBS2):c.255del (p.Glu86fs)
|
rs2144193104
|
|
NM_031885.5(BBS2):c.256_278dup (p.Val94fs)
|
rs2144193013
|
|
NM_031885.5(BBS2):c.258G>A (p.Glu86=)
|
|
|
NM_031885.5(BBS2):c.259C>T (p.Leu87Phe)
|
|
|
NM_031885.5(BBS2):c.265T>C (p.Tyr89His)
|
|
|
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)
|
rs560910758
|
|
NM_031885.5(BBS2):c.267T>C (p.Tyr89=)
|
rs2144193050
|
|
NM_031885.5(BBS2):c.268G>A (p.Asp90Asn)
|
|
|
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly)
|
rs1228731722
|
|
NM_031885.5(BBS2):c.270T>C (p.Asp90=)
|
|
|
NM_031885.5(BBS2):c.272C>A (p.Ala91Asp)
|
rs2144193029
|
|
NM_031885.5(BBS2):c.277T>C (p.Leu93=)
|
|
|
NM_031885.5(BBS2):c.27A>G (p.Lys9=)
|
|
|
NM_031885.5(BBS2):c.285G>A (p.Gly95=)
|
rs752531652
|
|
NM_031885.5(BBS2):c.288A>G (p.Thr96=)
|
rs2144192963
|
|
NM_031885.5(BBS2):c.28C>T (p.Leu10=)
|
|
|
NM_031885.5(BBS2):c.291G>A (p.Gln97=)
|
|
|
NM_031885.5(BBS2):c.297T>C (p.Asn99=)
|
rs2144192928
|
|
NM_031885.5(BBS2):c.306T>C (p.Ala102=)
|
|
|
NM_031885.5(BBS2):c.307del (p.Tyr103fs)
|
|
|
NM_031885.5(BBS2):c.312T>C (p.Asp104=)
|
|
|
NM_031885.5(BBS2):c.315C>G (p.Val105=)
|
|
|
NM_031885.5(BBS2):c.318C>T (p.Tyr106=)
|
|
|
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter)
|
rs181736797
|
|
NM_031885.5(BBS2):c.326C>T (p.Ser109Leu)
|
|
|
NM_031885.5(BBS2):c.339C>T (p.Tyr113=)
|
|
|
NM_031885.5(BBS2):c.342A>G (p.Arg114=)
|
rs2144192731
|
|
NM_031885.5(BBS2):c.345+10A>G
|
rs770249850
|
|
NM_031885.5(BBS2):c.345+11C>T
|
|
|
NM_031885.5(BBS2):c.345+12C>T
|
rs2144192648
|
|
NM_031885.5(BBS2):c.345+15del
|
|
|
NM_031885.5(BBS2):c.345+16A>G
|
|
|
NM_031885.5(BBS2):c.345+17T>C
|
|
|
NM_031885.5(BBS2):c.345+1G>A
|
|
|
NM_031885.5(BBS2):c.345+4A>C
|
|
|
NM_031885.5(BBS2):c.345+4A>G
|
|
|
NM_031885.5(BBS2):c.345+8T>C
|
|
|
NM_031885.5(BBS2):c.346-11A>G
|
|
|
NM_031885.5(BBS2):c.346-12T>A
|
|
|
NM_031885.5(BBS2):c.346-12del
|
rs777667452
|
|
NM_031885.5(BBS2):c.346-20T>C
|
|
|
NM_031885.5(BBS2):c.346-5C>T
|
|
|
NM_031885.5(BBS2):c.357G>T (p.Gly119=)
|
|
|
NM_031885.5(BBS2):c.35A>G (p.His12Arg)
|
rs1238233777
|
|
NM_031885.5(BBS2):c.362del (p.Asn121fs)
|
|
|
NM_031885.5(BBS2):c.365C>G (p.Ala122Gly)
|
rs17856449
|
|
NM_031885.5(BBS2):c.366A>C (p.Ala122=)
|
rs1191119235
|
|
NM_031885.5(BBS2):c.374T>C (p.Leu125Pro)
|
rs2144181949
|
|
NM_031885.5(BBS2):c.381A>G (p.Thr127=)
|
|
|
NM_031885.5(BBS2):c.399C>A (p.Ser133=)
|
|
|
NM_031885.5(BBS2):c.399C>T (p.Ser133=)
|
|
|
NM_031885.5(BBS2):c.402del (p.Ala136fs)
|
rs1368647604
|
|
NM_031885.5(BBS2):c.405T>C (p.Leu135=)
|
|
|
NM_031885.5(BBS2):c.405T>G (p.Leu135=)
|
rs2144181808
|
|
NM_031885.5(BBS2):c.407C>A (p.Ala136Glu)
|
|
|
NM_031885.5(BBS2):c.407C>G (p.Ala136Gly)
|
rs373166163
|
|
NM_031885.5(BBS2):c.420C>T (p.Gly140=)
|
|
|
NM_031885.5(BBS2):c.428C>T (p.Ala143Val)
|
rs2144181662
|
|
NM_031885.5(BBS2):c.429T>C (p.Ala143=)
|
rs2144181653
|
|
NM_031885.5(BBS2):c.432G>T (p.Leu144=)
|
rs2144181642
|
|
NM_031885.5(BBS2):c.437del (p.Gly146fs)
|
rs1170844318
|
|
NM_031885.5(BBS2):c.440del (p.Phe147fs)
|
rs1433422530
|
|
NM_031885.5(BBS2):c.441C>T (p.Phe147=)
|
rs2144181587
|
|
NM_031885.5(BBS2):c.451G>A (p.Gly151Arg)
|
|
|
NM_031885.5(BBS2):c.453A>G (p.Gly151=)
|
rs144460758
|
|
NM_031885.5(BBS2):c.45C>T (p.Ser15=)
|
rs1354385806
|
|
NM_031885.5(BBS2):c.462C>A (p.Leu154=)
|
|
|
NM_031885.5(BBS2):c.466T>G (p.Trp156Gly)
|
|
|
NM_031885.5(BBS2):c.466del (p.Trp156fs)
|
|
|
NM_031885.5(BBS2):c.468del (p.Phe155_Trp156insTer)
|
|
|
NM_031885.5(BBS2):c.471+10A>C
|
rs1342804095
|
|
NM_031885.5(BBS2):c.471+12A>G
|
|
|
NM_031885.5(BBS2):c.471+14A>C
|
|
|
NM_031885.5(BBS2):c.471+1G>A
|
rs1555523584
|
|
NM_031885.5(BBS2):c.471+1G>C
|
rs1555523584
|
|
NM_031885.5(BBS2):c.471+3A>G
|
rs1964565857
|
|
NM_031885.5(BBS2):c.471+3_471+4delinsCA
|
rs1567582876
|
|
NM_031885.5(BBS2):c.472-13del
|
|
|
NM_031885.5(BBS2):c.472-18T>C
|
|
|
NM_031885.5(BBS2):c.472-2A>G
|
rs137854887
|
|
NM_031885.5(BBS2):c.472-6T>C
|
rs2144180463
|
|
NM_031885.5(BBS2):c.472del
|
rs587777826
|
|
NM_031885.5(BBS2):c.482A>G (p.Asp161Gly)
|
rs755150651
|
|
NM_031885.5(BBS2):c.484_495del (p.Asn162_Ser165del)
|
rs2144180368
|
|
NM_031885.5(BBS2):c.485A>G (p.Asn162Ser)
|
rs749148042
|
|
NM_031885.5(BBS2):c.486T>C (p.Asn162=)
|
|
|
NM_031885.5(BBS2):c.492T>G (p.Asn164Lys)
|
rs779800067
|
|
NM_031885.5(BBS2):c.495C>T (p.Ser165=)
|
|
|
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter)
|
rs1964558577
|
|
NM_031885.5(BBS2):c.49C>G (p.Arg17Gly)
|
|
|
NM_031885.5(BBS2):c.4C>A (p.Leu2Met)
|
rs2144214806
|
|
NM_031885.5(BBS2):c.501C>G (p.Ala167=)
|
rs1398338388
|
|
NM_031885.5(BBS2):c.501C>T (p.Ala167=)
|
rs1398338388
|
|
NM_031885.5(BBS2):c.503T>C (p.Leu168Ser)
|
|
|
NM_031885.5(BBS2):c.505T>C (p.Cys169Arg)
|
|
|
NM_031885.5(BBS2):c.516T>C (p.Asp172=)
|
rs1387025266
|
|
NM_031885.5(BBS2):c.519T>C (p.Gly173=)
|
|
|
NM_031885.5(BBS2):c.51A>T (p.Arg17=)
|
|
|
NM_031885.5(BBS2):c.522T>C (p.Asp174=)
|
|
|
NM_031885.5(BBS2):c.528G>A (p.Lys176=)
|
|
|
NM_031885.5(BBS2):c.528del (p.Glu178fs)
|
|
|
NM_031885.5(BBS2):c.534+10G>A
|
rs1207740034
|
|
NM_031885.5(BBS2):c.534+11G>T
|
|
|
NM_031885.5(BBS2):c.534+11del
|
|
|
NM_031885.5(BBS2):c.534+11dup
|
|
|
NM_031885.5(BBS2):c.534+17A>G
|
|
|
NM_031885.5(BBS2):c.534+18T>C
|
|
|
NM_031885.5(BBS2):c.534+19A>C
|
rs930327101
|
|
NM_031885.5(BBS2):c.534+19A>G
|
|
|
NM_031885.5(BBS2):c.534+5G>T
|
|
|
NM_031885.5(BBS2):c.534+7G>T
|
rs886052149
|
|
NM_031885.5(BBS2):c.534+9G>A
|
|
|
NM_031885.5(BBS2):c.534+9G>T
|
rs2144180024
|
|
NM_031885.5(BBS2):c.535-15A>T
|
|
|
NM_031885.5(BBS2):c.535-16_535-14del
|
|
|
NM_031885.5(BBS2):c.535-18A>G
|
|
|
NM_031885.5(BBS2):c.535-19T>C
|
|
|
NM_031885.5(BBS2):c.535-1G>A
|
|
|
NM_031885.5(BBS2):c.535-20G>C
|
|
|
NM_031885.5(BBS2):c.535-27_535-3del
|
rs751101598
|
|
NM_031885.5(BBS2):c.535-2A>G
|
rs1555523398
|
|
NM_031885.5(BBS2):c.535-4_535-3insA
|
|
|
NM_031885.5(BBS2):c.535-6C>T
|
rs2144177148
|
|
NM_031885.5(BBS2):c.535-6del
|
rs1237158483
|
|
NM_031885.5(BBS2):c.535-8C>T
|
rs2144177202
|
|
NM_031885.5(BBS2):c.535-9C>T
|
rs2144177223
|
|
NM_031885.5(BBS2):c.537T>A (p.Leu179=)
|
rs1450648224
|
|
NM_031885.5(BBS2):c.544G>C (p.Gly182Arg)
|
rs1964532476
|
|
NM_031885.5(BBS2):c.552G>C (p.Glu184Asp)
|
rs1423768973
|
|
NM_031885.5(BBS2):c.55G>A (p.Val19Met)
|
rs1158566793
|
|
NM_031885.5(BBS2):c.55G>C (p.Val19Leu)
|
|
|
NM_031885.5(BBS2):c.564C>A (p.Ile188=)
|
|
|
NM_031885.5(BBS2):c.564C>T (p.Ile188=)
|
|
|
NM_031885.5(BBS2):c.566G>A (p.Arg189Gln)
|
|
|
NM_031885.5(BBS2):c.573T>C (p.Phe191=)
|
rs2144176995
|
|
NM_031885.5(BBS2):c.57G>A (p.Val19=)
|
|
|
NM_031885.5(BBS2):c.588T>C (p.Ile196=)
|
|
|
NM_031885.5(BBS2):c.590_591del (p.Val197fs)
|
|
|
NM_031885.5(BBS2):c.60C>T (p.Ala20=)
|
|
|
NM_031885.5(BBS2):c.612+14C>T
|
rs770986334
|
|
NM_031885.5(BBS2):c.612+16T>A
|
|
|
NM_031885.5(BBS2):c.612+17C>G
|
rs745726316
|
|
NM_031885.5(BBS2):c.612+18G>T
|
rs200364314
|
|
NM_031885.5(BBS2):c.612+7A>G
|
|
|
NM_031885.5(BBS2):c.613-11T>C
|
|
|
NM_031885.5(BBS2):c.613-17dup
|
|
|
NM_031885.5(BBS2):c.613-1G>C
|
rs2144163316
|
|
NM_031885.5(BBS2):c.613-1G>T
|
|
|
NM_031885.5(BBS2):c.613-5dup
|
|
|
NM_031885.5(BBS2):c.615A>T (p.Ile205=)
|
|
|
NM_031885.5(BBS2):c.618C>T (p.Val206=)
|
|
|
NM_031885.5(BBS2):c.620C>T (p.Thr207Ile)
|
|
|
NM_031885.5(BBS2):c.621C>T (p.Thr207=)
|
rs1481865252
|
|
NM_031885.5(BBS2):c.627T>C (p.Leu209=)
|
rs752010652
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
NM_031885.5(BBS2):c.633C>G (p.Pro211=)
|
|
|
NM_031885.5(BBS2):c.633C>T (p.Pro211=)
|
|
|
NM_031885.5(BBS2):c.636G>A (p.Met212Ile)
|
rs1461732222
|
|
NM_031885.5(BBS2):c.651T>G (p.Phe217Leu)
|
rs2144163118
|
|
NM_031885.5(BBS2):c.654T>C (p.Gly218=)
|
|
|
NM_031885.5(BBS2):c.660C>G (p.Ala220=)
|
|
|
NM_031885.5(BBS2):c.661C>T (p.Leu221Phe)
|
rs2144163050
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro)
|
rs1597020018
|
|
NM_031885.5(BBS2):c.666C>T (p.Ser222=)
|
|
|
NM_031885.5(BBS2):c.668A>G (p.Asn223Ser)
|
|
|
NM_031885.5(BBS2):c.672C>G (p.Gly224=)
|
|
|
NM_031885.5(BBS2):c.672C>T (p.Gly224=)
|
|
|
NM_031885.5(BBS2):c.674C>G (p.Thr225Arg)
|
|
|
NM_031885.5(BBS2):c.675A>C (p.Thr225=)
|
rs2144162957
|
|
NM_031885.5(BBS2):c.681A>G (p.Gly227=)
|
rs2144162940
|
|
NM_031885.5(BBS2):c.684T>A (p.Val228=)
|
rs2144162919
|
|
NM_031885.5(BBS2):c.685T>G (p.Tyr229Asp)
|
rs778543585
|
|
NM_031885.5(BBS2):c.685dup (p.Tyr229fs)
|
|
|
NM_031885.5(BBS2):c.68G>C (p.Arg23Pro)
|
rs1162842645
|
|
NM_031885.5(BBS2):c.68G>T (p.Arg23Leu)
|
rs1162842645
|
|
NM_031885.5(BBS2):c.69C>T (p.Arg23=)
|
|
|
NM_031885.5(BBS2):c.701G>A (p.Arg234Gln)
|
|
|
NM_031885.5(BBS2):c.705C>T (p.Tyr235=)
|
|
|
NM_031885.5(BBS2):c.706T>C (p.Trp236Arg)
|
rs2144162792
|
|
NM_031885.5(BBS2):c.710G>A (p.Arg237Lys)
|
|
|
NM_031885.5(BBS2):c.711A>G (p.Arg237=)
|
rs2144162775
|
|
NM_031885.5(BBS2):c.717+17C>T
|
|
|
NM_031885.5(BBS2):c.717+1G>T
|
|
|
NM_031885.5(BBS2):c.717+2T>G
|
rs1555522893
|
|
NM_031885.5(BBS2):c.717+7A>G
|
rs2144162735
|
|
NM_031885.5(BBS2):c.718-10T>C
|
rs2144162525
|
|
NM_031885.5(BBS2):c.718-19T>G
|
|
|
NM_031885.5(BBS2):c.718-2A>C
|
rs1964413705
|
|
NM_031885.5(BBS2):c.718-2A>G
|
rs1964413705
|
|
NM_031885.5(BBS2):c.718-4T>G
|
rs1265021801
|
|
NM_031885.5(BBS2):c.718-9C>A
|
rs2144162512
|
|
NM_031885.5(BBS2):c.719C>T (p.Ser240Leu)
|
|
|
NM_031885.5(BBS2):c.723A>G (p.Lys241=)
|
|
|
NM_031885.5(BBS2):c.726T>C (p.Asn242=)
|
rs1481166462
|
|
NM_031885.5(BBS2):c.750T>C (p.Phe250=)
|
|
|
NM_031885.5(BBS2):c.75C>T (p.Asp25=)
|
rs1964868134
|
|
NM_031885.5(BBS2):c.764A>C (p.Asp255Ala)
|
rs1436713218
|
|
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg)
|
rs886052147
|
|
NM_031885.5(BBS2):c.768A>C (p.Gly256=)
|
rs2144162236
|
|
NM_031885.5(BBS2):c.770T>A (p.Val257Glu)
|
|
|
NM_031885.5(BBS2):c.774del (p.Asn258fs)
|
rs777218224
|
|
NM_031885.5(BBS2):c.775G>T (p.Glu259Ter)
|
|
|
NM_031885.5(BBS2):c.780G>A (p.Leu260=)
|
|
|
NM_031885.5(BBS2):c.780G>C (p.Leu260=)
|
|
|
NM_031885.5(BBS2):c.786T>G (p.Thr262=)
|
|
|
NM_031885.5(BBS2):c.795C>T (p.Ser265=)
|
rs1172637602
|
|
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)
|
|
|
NM_031885.5(BBS2):c.801G>A (p.Gly267=)
|
|
|
NM_031885.5(BBS2):c.801G>T (p.Gly267=)
|
|
|
NM_031885.5(BBS2):c.804+15C>G
|
|
|
NM_031885.5(BBS2):c.804+17A>G
|
|
|
NM_031885.5(BBS2):c.804+1G>T
|
rs2144162056
|
|
NM_031885.5(BBS2):c.804+1_804+14del
|
rs1202682571
|
|
NM_031885.5(BBS2):c.804+7T>G
|
rs2144162020
|
|
NM_031885.5(BBS2):c.805-10T>A
|
|
|
NM_031885.5(BBS2):c.805-10T>G
|
rs2144150878
|
|
NM_031885.5(BBS2):c.805-15G>A
|
|
|
NM_031885.5(BBS2):c.806T>C (p.Val269Ala)
|
rs886039797
|
|
NM_031885.5(BBS2):c.807T>C (p.Val269=)
|
rs2144150832
|
|
NM_031885.5(BBS2):c.812C>T (p.Ala271Val)
|
|
|
NM_031885.5(BBS2):c.812del (p.Ala271fs)
|
|
|
NM_031885.5(BBS2):c.813T>C (p.Ala271=)
|
|
|
NM_031885.5(BBS2):c.815G>A (p.Arg272Gln)
|
|
|
NM_031885.5(BBS2):c.816A>G (p.Arg272=)
|
rs1471030773
|
|
NM_031885.5(BBS2):c.822C>T (p.Asp274=)
|
rs2144150744
|
|
NM_031885.5(BBS2):c.823C>A (p.Arg275=)
|
|
|
NM_031885.5(BBS2):c.838A>G (p.Ile280Val)
|
|
|
NM_031885.5(BBS2):c.840C>T (p.Ile280=)
|
rs1207765703
|
|
NM_031885.5(BBS2):c.861T>C (p.Ser287=)
|
|
|
NM_031885.5(BBS2):c.864A>C (p.Ala288=)
|
rs1340236108
|
|
NM_031885.5(BBS2):c.871G>A (p.Gly291Ser)
|
|
|
NM_031885.5(BBS2):c.878T>C (p.Val293Ala)
|
|
|
NM_031885.5(BBS2):c.87G>A (p.Pro29=)
|
rs2144214387
|
|
NM_031885.5(BBS2):c.882G>A (p.Glu294=)
|
rs2144150392
|
|
NM_031885.5(BBS2):c.892C>T (p.Arg298Trp)
|
|
|
NM_031885.5(BBS2):c.892del (p.Arg298fs)
|
rs2144150359
|
|
NM_031885.5(BBS2):c.897G>C (p.Met299Ile)
|
rs759147772
|
|
NM_031885.5(BBS2):c.898G>T (p.Asp300Tyr)
|
|
|
NM_031885.5(BBS2):c.89_90dup (p.Leu31fs)
|
|
|
NM_031885.5(BBS2):c.8T>A (p.Leu3Gln)
|
rs1964870972
|
|
NM_031885.5(BBS2):c.8T>C (p.Leu3Pro)
|
rs1964870972
|
|
NM_031885.5(BBS2):c.912G>A (p.Gln304=)
|
rs2144150234
|
|
NM_031885.5(BBS2):c.913T>G (p.Leu305Val)
|
rs1964310691
|
|
NM_031885.5(BBS2):c.916A>G (p.Ile306Val)
|
rs1964310396
|
|
NM_031885.5(BBS2):c.916_919del (p.Ile306fs)
|
|
|
NM_031885.5(BBS2):c.940+18A>G
|
|
|
NM_031885.5(BBS2):c.940+20A>G
|
|
|
NM_031885.5(BBS2):c.940+3A>C
|
rs2144150079
|
|
NM_031885.5(BBS2):c.941-10T>C
|
|
|
NM_031885.5(BBS2):c.941-13dup
|
|
|
NM_031885.5(BBS2):c.941-19G>A
|
|
|
NM_031885.5(BBS2):c.941-1G>C
|
rs777234811
|
|
NM_031885.5(BBS2):c.941-1G>T
|
rs777234811
|
|
NM_031885.5(BBS2):c.941-20G>T
|
|
|
NM_031885.5(BBS2):c.941-2A>C
|
rs878962682
|
|
NM_031885.5(BBS2):c.941-2A>G
|
|
|
NM_031885.5(BBS2):c.941-4del
|
rs1964302734
|
|
NM_031885.5(BBS2):c.941-6G>T
|
|
|
NM_031885.5(BBS2):c.941-8C>G
|
rs373354290
|
|
NM_031885.5(BBS2):c.941-8C>T
|
rs373354290
|
|
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln)
|
rs544773389
|
|
NM_031885.5(BBS2):c.946G>T (p.Gly316Cys)
|
|
|
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys)
|
rs1597016660
|
|
NM_031885.5(BBS2):c.960C>G (p.Gly320=)
|
rs369415186
|
|
NM_031885.5(BBS2):c.960C>T (p.Gly320=)
|
|
|
NM_031885.5(BBS2):c.962C>A (p.Thr321Lys)
|
rs758548498
|
|
NM_031885.5(BBS2):c.969G>A (p.Glu323=)
|
|
|
NM_031885.5(BBS2):c.973del (p.Arg325fs)
|
|
|
NM_031885.5(BBS2):c.974G>A (p.Arg325Lys)
|
rs1964301074
|
|
NM_031885.5(BBS2):c.975G>A (p.Arg325=)
|
rs1276623881
|
|
NM_031885.5(BBS2):c.983T>A (p.Leu328His)
|
rs753806664
|
|
NM_031885.5(BBS2):c.983T>C (p.Leu328Pro)
|
|
|
NM_031885.5(BBS2):c.984C>T (p.Leu328=)
|
rs1285508370
|
|
NM_031885.5(BBS2):c.990C>T (p.Asp330=)
|
rs2144148961
|
|
NM_031885.5(BBS2):c.992C>A (p.Thr331Asn)
|
|
|
NM_031885.5(BBS2):c.992C>G (p.Thr331Ser)
|
rs2144148951
|
|
NM_031885.5(BBS2):c.992C>T (p.Thr331Ile)
|
|
|
NM_031885.5(BBS2):c.993C>T (p.Thr331=)
|
rs1964300336
|
|
NM_031885.5(BBS2):c.994A>G (p.Ser332Gly)
|
rs576081735
|
|
NM_031885.5(BBS2):c.999A>T (p.Ala333=)
|
rs1964300041
|
|
NM_031885.5(BBS2):c.99C>G (p.Ala33=)
|
|
|
NM_031885.5(BBS2):c.9G>T (p.Leu3=)
|
|
|
NM_033028.5(BBS4):c.*1_*2delGA
|
|
|
NM_033028.5(BBS4):c.*1_*3delGAA
|
|
|
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)
|
rs750983167
|
|
NM_033028.5(BBS4):c.1016_1017del (p.Glu339fs)
|
|
|
NM_033028.5(BBS4):c.1020C>T (p.Leu340=)
|
|
|
NM_033028.5(BBS4):c.1023C>T (p.Tyr341=)
|
|
|
NM_033028.5(BBS4):c.1027C>A (p.Leu343Ile)
|
rs758032659
|
|
NM_033028.5(BBS4):c.1032G>C (p.Leu344Phe)
|
|
|
NM_033028.5(BBS4):c.1036+11T>C
|
|
|
NM_033028.5(BBS4):c.1036+18G>A
|
|
|
NM_033028.5(BBS4):c.1036+19G>A
|
|
|
NM_033028.5(BBS4):c.1036+19G>C
|
rs2151048330
|
|
NM_033028.5(BBS4):c.1036+1G>A
|
rs2151048301
|
|
NM_033028.5(BBS4):c.1036+8A>G
|
|
|
NM_033028.5(BBS4):c.1039G>A (p.Ala347Thr)
|
|
|
NM_033028.5(BBS4):c.1063G>C (p.Glu355Gln)
|
rs1478448702
|
|
NM_033028.5(BBS4):c.1064_1106+97del
|
|
|
NM_033028.5(BBS4):c.1074G>A (p.Lys358=)
|
|
|
NM_033028.5(BBS4):c.1076G>C (p.Arg359Thr)
|
rs367767132
|
|
NM_033028.5(BBS4):c.1083C>A (p.Tyr361Ter)
|
|
|
NM_033028.5(BBS4):c.1086A>G (p.Ala362=)
|
|
|
NM_033028.5(BBS4):c.1092A>T (p.Ala364=)
|
|
|
NM_033028.5(BBS4):c.1095C>A (p.Val365=)
|
|
|
NM_033028.5(BBS4):c.10G>A (p.Glu4Lys)
|
rs1336636537
|
|
NM_033028.5(BBS4):c.10G>C (p.Glu4Gln)
|
|
|
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
|
|
|
NM_033028.5(BBS4):c.1101G>A (p.Leu367=)
|
|
|
NM_033028.5(BBS4):c.1101G>T (p.Leu367=)
|
|
|
NM_033028.5(BBS4):c.1106+11T>G
|
|
|
NM_033028.5(BBS4):c.1106+17G>A
|
rs1485932268
|
|
NM_033028.5(BBS4):c.1106+2T>A
|
rs886041464
|
|
NM_033028.5(BBS4):c.1106+7A>C
|
|
|
NM_033028.5(BBS4):c.1106+7A>G
|
|
|
NM_033028.5(BBS4):c.1107-10_1107-7del
|
rs770577174
|
|
NM_033028.5(BBS4):c.1107-13C>T
|
|
|
NM_033028.5(BBS4):c.1107-17A>G
|
|
|
NM_033028.5(BBS4):c.1107-9C>G
|
|
|
NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs)
|
rs2065911287
|
|
NM_033028.5(BBS4):c.1126dup (p.Leu376fs)
|
rs2065911518
|
|
NM_033028.5(BBS4):c.1133A>G (p.Tyr378Cys)
|
rs766266805
|
|
NM_033028.5(BBS4):c.1134T>C (p.Tyr378=)
|
|
|
NM_033028.5(BBS4):c.1140_1147del (p.Leu381fs)
|
|
|
NM_033028.5(BBS4):c.1143G>A (p.Leu381=)
|
|
|
NM_033028.5(BBS4):c.1146G>A (p.Leu382=)
|
|
|
NM_033028.5(BBS4):c.1159G>A (p.Glu387Lys)
|
|
|
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del)
|
rs759315856
|
|
NM_033028.5(BBS4):c.1166A>G (p.Lys389Arg)
|
|
|
NM_033028.5(BBS4):c.116T>C (p.Ile39Thr)
|
|
|
NM_033028.5(BBS4):c.1173C>T (p.Ala391=)
|
|
|
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
|
|
|
NM_033028.5(BBS4):c.1183T>C (p.Tyr395His)
|
|
|
NM_033028.5(BBS4):c.1185T>C (p.Tyr395=)
|
|
|
NM_033028.5(BBS4):c.1191G>A (p.Glu397=)
|
|
|
NM_033028.5(BBS4):c.1197GAA[1] (p.Lys401del)
|
rs1414925501
|
|
NM_033028.5(BBS4):c.1200G>C (p.Lys400Asn)
|
rs1295583634
|
|
NM_033028.5(BBS4):c.1203dup (p.Val402fs)
|
|
|
NM_033028.5(BBS4):c.1209C>T (p.Ser403=)
|
|
|
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup)
|
rs752690768
|
|
NM_033028.5(BBS4):c.1224T>C (p.Asn408=)
|
|
|
NM_033028.5(BBS4):c.1226G>T (p.Ser409Ile)
|
|
|
NM_033028.5(BBS4):c.1227C>T (p.Ser409=)
|
|
|
NM_033028.5(BBS4):c.1234_1248+5del
|
|
|
NM_033028.5(BBS4):c.1248+18T>G
|
|
|
NM_033028.5(BBS4):c.1248+1G>A
|
|
|
NM_033028.5(BBS4):c.1248+1G>T
|
rs1419924139
|
|
NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
NM_033028.5(BBS4):c.1248+4T>C
|
rs2065914727
|
|
NM_033028.5(BBS4):c.1248G>A (p.Glu416=)
|
rs914591602
|
|
NM_033028.5(BBS4):c.1249-11G>A
|
|
|
NM_033028.5(BBS4):c.1249-15C>A
|
|
|
NM_033028.5(BBS4):c.1249-3_1259del
|
|
|
NM_033028.5(BBS4):c.1249-5A>C
|
|
|
NM_033028.5(BBS4):c.1249-8dup
|
rs1419777878
|
|
NM_033028.5(BBS4):c.1254G>A (p.Val418=)
|
|
|
NM_033028.5(BBS4):c.1254G>C (p.Val418=)
|
|
|
NM_033028.5(BBS4):c.1263T>G (p.Ala421=)
|
|
|
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
|
|
|
NM_033028.5(BBS4):c.1278T>A (p.Ala426=)
|
|
|
NM_033028.5(BBS4):c.1287G>A (p.Gln429=)
|
|
|
NM_033028.5(BBS4):c.1287G>T (p.Gln429His)
|
|
|
NM_033028.5(BBS4):c.1289T>G (p.Val430Gly)
|
rs767070801
|
|
NM_033028.5(BBS4):c.1294del (p.Glu432fs)
|
rs912967826
|
|
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
|
|
|
NM_033028.5(BBS4):c.1296G>A (p.Glu432=)
|
|
|
NM_033028.5(BBS4):c.1299A>G (p.Ala433=)
|
|
|
NM_033028.5(BBS4):c.1300C>T (p.Leu434=)
|
|
|
NM_033028.5(BBS4):c.1302G>C (p.Leu434=)
|
|
|
NM_033028.5(BBS4):c.1306T>G (p.Trp436Gly)
|
rs2151057022
|
|
NM_033028.5(BBS4):c.1317A>G (p.Pro439=)
|
|
|
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)
|
rs1281334523
|
|
NM_033028.5(BBS4):c.1320T>C (p.Val440=)
|
|
|
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly)
|
rs753145823
|
|
NM_033028.5(BBS4):c.1329C>G (p.Pro443=)
|
|
|
NM_033028.5(BBS4):c.133C>T (p.Arg45Trp)
|
|
|
NM_033028.5(BBS4):c.1340A>C (p.His447Pro)
|
rs1419223053
|
|
NM_033028.5(BBS4):c.1347C>G (p.Thr449=)
|
|
|
NM_033028.5(BBS4):c.1347C>T (p.Thr449=)
|
rs779876012
|
|
NM_033028.5(BBS4):c.1356C>T (p.Thr452=)
|
|
|
NM_033028.5(BBS4):c.1369A>G (p.Ser457Gly)
|
rs773209808
|
|
NM_033028.5(BBS4):c.1377G>A (p.Gln459=)
|
|
|
NM_033028.5(BBS4):c.1388G>C (p.Gly463Ala)
|
|
|
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
|
|
|
NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro)
|
rs776847398
|
|
NM_033028.5(BBS4):c.1405G>C (p.Gly469Arg)
|
|
|
NM_033028.5(BBS4):c.1409A>T (p.Gln470Leu)
|
rs2065937102
|
|
NM_033028.5(BBS4):c.1414A>C (p.Met472Leu)
|
rs2277596
|
|
NM_033028.5(BBS4):c.1450+11A>G
|
|
|
NM_033028.5(BBS4):c.1450+12C>G
|
|
|
NM_033028.5(BBS4):c.1450+17_1450+22del
|
|
|
NM_033028.5(BBS4):c.1450+2_1450+5del
|
rs1287237832
|
|
NM_033028.5(BBS4):c.1450+7C>T
|
|
|
NM_033028.5(BBS4):c.1450+9A>G
|
|
|
NM_033028.5(BBS4):c.1450G>A (p.Gly484Ser)
|
rs2065938048
|
|
NM_033028.5(BBS4):c.1451-14T>C
|
|
|
NM_033028.5(BBS4):c.1451-14del
|
|
|
NM_033028.5(BBS4):c.1451-20A>C
|
|
|
NM_033028.5(BBS4):c.1451-20A>G
|
|
|
NM_033028.5(BBS4):c.1451-4C>T
|
|
|
NM_033028.5(BBS4):c.1451-6dup
|
rs770389663
|
|
NM_033028.5(BBS4):c.1451-7T>A
|
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|
NM_033028.5(BBS4):c.1456G>A (p.Gly486Arg)
|
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|
NM_033028.5(BBS4):c.1459G>C (p.Gly487Arg)
|
rs2151058260
|
|
NM_033028.5(BBS4):c.1463C>A (p.Thr488Lys)
|
rs561284402
|
|
NM_033028.5(BBS4):c.1468C>T (p.Gln490Ter)
|
|
|
NM_033028.5(BBS4):c.1483C>T (p.Pro495Ser)
|
|
|
NM_033028.5(BBS4):c.1493del (p.Pro498fs)
|
rs777455492
|
|
NM_033028.5(BBS4):c.1494T>G (p.Pro498=)
|
rs1186383384
|
|
NM_033028.5(BBS4):c.1506G>T (p.Glu502Asp)
|
|
|
NM_033028.5(BBS4):c.1510G>A (p.Ala504Thr)
|
|
|
NM_033028.5(BBS4):c.1515G>A (p.Val505=)
|
rs2151058394
|
|
NM_033028.5(BBS4):c.1517A>T (p.Glu506Val)
|
rs1278438729
|
|
NM_033028.5(BBS4):c.1536A>G (p.Thr512=)
|
|
|
NM_033028.5(BBS4):c.1541A>G (p.Glu514Gly)
|
rs2065950720
|
|
NM_033028.5(BBS4):c.1542A>G (p.Glu514=)
|
|
|
NM_033028.5(BBS4):c.1545A>G (p.Gln515=)
|
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|
NM_033028.5(BBS4):c.1549_1551del (p.Arg517del)
|
|
|
NM_033028.5(BBS4):c.1554G>A (p.Glu518=)
|
|
|
NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs)
|
rs1463405501
|
|
NM_033028.5(BBS4):c.1557A>G (p.Lys519=)
|
|
|
NM_033028.5(BBS4):c.156+10T>G
|
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|
NM_033028.5(BBS4):c.156+12C>T
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NM_033028.5(BBS4):c.156+14A>G
|
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NM_033028.5(BBS4):c.156+4A>G
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|
NM_033028.5(BBS4):c.156+9T>C
|
rs749530632
|
|
NM_033028.5(BBS4):c.157-12T>G
|
|
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NM_033028.5(BBS4):c.157-13C>T
|
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|
NM_033028.5(BBS4):c.157-15T>G
|
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NM_033028.5(BBS4):c.157-1G>T
|
|
|
NM_033028.5(BBS4):c.157-20C>G
|
rs2151019478
|
|
NM_033028.5(BBS4):c.157-20C>T
|
rs2151019478
|
|
NM_033028.5(BBS4):c.157-2A>G
|
rs113994192
|
|
NM_033028.5(BBS4):c.157-3C>G
|
rs1567412639
|
|
NM_033028.5(BBS4):c.157-4T>C
|
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NM_033028.5(BBS4):c.157-6T>C
|
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NM_033028.5(BBS4):c.157-9C>G
|
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NM_033028.5(BBS4):c.157-9C>T
|
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|
NM_033028.5(BBS4):c.16G>A (p.Val6Ile)
|
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NM_033028.5(BBS4):c.174G>A (p.Gln58=)
|
|
|
NM_033028.5(BBS4):c.181G>A (p.Glu61Lys)
|
rs1251827333
|
|
NM_033028.5(BBS4):c.186_187del (p.Gln63fs)
|
|
|
NM_033028.5(BBS4):c.189G>A (p.Gln63=)
|
rs1447098604
|
|
NM_033028.5(BBS4):c.18C>A (p.Val6=)
|
|
|
NM_033028.5(BBS4):c.192A>T (p.Gly64=)
|
|
|
NM_033028.5(BBS4):c.19G>A (p.Ala7Thr)
|
rs2064831111
|
|
NM_033028.5(BBS4):c.19G>C (p.Ala7Pro)
|
rs2064831111
|
|
NM_033028.5(BBS4):c.20C>G (p.Ala7Gly)
|
|
|
NM_033028.5(BBS4):c.210C>A (p.Ile70=)
|
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|
NM_033028.5(BBS4):c.216C>T (p.Val72=)
|
|
|
NM_033028.5(BBS4):c.220+10A>G
|
|
|
NM_033028.5(BBS4):c.220+16_220+18del
|
rs2151019680
|
|
NM_033028.5(BBS4):c.220+1G>A
|
|
|
NM_033028.5(BBS4):c.220+1G>C
|
rs113994190
|
|
NM_033028.5(BBS4):c.220+3A>G
|
|
|
NM_033028.5(BBS4):c.220+3A>T
|
rs376143305
|
|
NM_033028.5(BBS4):c.221-14C>T
|
|
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NM_033028.5(BBS4):c.221-20T>C
|
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|
NM_033028.5(BBS4):c.223T>C (p.Leu75=)
|
|
|
NM_033028.5(BBS4):c.226A>G (p.Ile76Val)
|
|
|
NM_033028.5(BBS4):c.237A>G (p.Leu79=)
|
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|
NM_033028.5(BBS4):c.24+11A>T
|
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NM_033028.5(BBS4):c.24+16C>T
|
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NM_033028.5(BBS4):c.24+17T>C
|
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NM_033028.5(BBS4):c.24+18C>T
|
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|
NM_033028.5(BBS4):c.24+18_24+19del
|
|
|
NM_033028.5(BBS4):c.24+1G>A
|
rs759520211
|
|
NM_033028.5(BBS4):c.24+1G>T
|
rs759520211
|
|
NM_033028.5(BBS4):c.24+2T>G
|
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NM_033028.5(BBS4):c.24+8C>A
|
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|
NM_033028.5(BBS4):c.24+9C>T
|
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|
NM_033028.5(BBS4):c.240A>C (p.Glu80Asp)
|
rs745338483
|
|
NM_033028.5(BBS4):c.243A>G (p.Gly81=)
|
rs2151023302
|
|
NM_033028.5(BBS4):c.246T>C (p.Asn82=)
|
|
|
NM_033028.5(BBS4):c.248T>G (p.Ile83Ser)
|
rs1567415169
|
|
NM_033028.5(BBS4):c.25-16A>G
|
|
|
NM_033028.5(BBS4):c.252A>T (p.Gln84His)
|
rs2065448650
|
|
NM_033028.5(BBS4):c.255A>C (p.Glu85Asp)
|
|
|
NM_033028.5(BBS4):c.258C>A (p.Ser86=)
|
|
|
NM_033028.5(BBS4):c.261A>G (p.Leu87=)
|
|
|
NM_033028.5(BBS4):c.267C>T (p.Leu89=)
|
|
|
NM_033028.5(BBS4):c.276A>C (p.Thr92=)
|
|
|
NM_033028.5(BBS4):c.276A>G (p.Thr92=)
|
rs2151023356
|
|
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
|
|
|
NM_033028.5(BBS4):c.281del (p.Ala94fs)
|
rs2151023363
|
|
NM_033028.5(BBS4):c.306T>C (p.Asp102=)
|
rs886706996
|
|
NM_033028.5(BBS4):c.317A>G (p.Gln106Arg)
|
rs139038321
|
|
NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
|
|
|
NM_033028.5(BBS4):c.327A>T (p.Arg109Ser)
|
|
|
NM_033028.5(BBS4):c.332+14A>T
|
rs980205433
|
|
NM_033028.5(BBS4):c.332+16del
|
|
|
NM_033028.5(BBS4):c.332+1G>T
|
|
|
NM_033028.5(BBS4):c.332+2dup
|
rs753360929
|
|
NM_033028.5(BBS4):c.333-10T>C
|
|
|
NM_033028.5(BBS4):c.333-12T>C
|
|
|
NM_033028.5(BBS4):c.333-13A>G
|
|
|
NM_033028.5(BBS4):c.333-15A>C
|
|
|
NM_033028.5(BBS4):c.333-18A>G
|
rs760730921
|
|
NM_033028.5(BBS4):c.333-1G>C
|
rs2065474809
|
|
NM_033028.5(BBS4):c.333-20G>C
|
|
|
NM_033028.5(BBS4):c.333-2A>C
|
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|
NM_033028.5(BBS4):c.333-9C>A
|
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|
NM_033028.5(BBS4):c.340T>C (p.Leu114=)
|
|
|
NM_033028.5(BBS4):c.341del (p.Leu114fs)
|
rs750258633
|
|
NM_033028.5(BBS4):c.342G>A (p.Leu114=)
|
|
|
NM_033028.5(BBS4):c.346A>T (p.Lys116Ter)
|
|
|
NM_033028.5(BBS4):c.348A>G (p.Lys116=)
|
|
|
NM_033028.5(BBS4):c.349C>T (p.His117Tyr)
|
rs765399591
|
|
NM_033028.5(BBS4):c.354A>G (p.Lys118=)
|
|
|
NM_033028.5(BBS4):c.360C>T (p.Ala120=)
|
|
|
NM_033028.5(BBS4):c.369A>G (p.Val123=)
|
|
|
NM_033028.5(BBS4):c.385A>G (p.Lys129Glu)
|
|
|
NM_033028.5(BBS4):c.39T>G (p.Pro13=)
|
rs990984115
|
|
NM_033028.5(BBS4):c.403T>A (p.Trp135Arg)
|
rs768304898
|
|
NM_033028.5(BBS4):c.406-11del
|
|
|
NM_033028.5(BBS4):c.406-16T>C
|
|
|
NM_033028.5(BBS4):c.406-4C>T
|
rs2151032476
|
|
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
|
|
|
NM_033028.5(BBS4):c.428T>A (p.Val143Asp)
|
rs2065601390
|
|
NM_033028.5(BBS4):c.434A>G (p.Tyr145Cys)
|
|
|
NM_033028.5(BBS4):c.435C>A (p.Tyr145Ter)
|
|
|
NM_033028.5(BBS4):c.435C>T (p.Tyr145=)
|
|
|
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn)
|
rs781691906
|
|
NM_033028.5(BBS4):c.443T>A (p.Leu148Gln)
|
|
|
NM_033028.5(BBS4):c.453_454insGAAC (p.Asn152fs)
|
|
|
NM_033028.5(BBS4):c.456C>T (p.Asn152=)
|
|
|
NM_033028.5(BBS4):c.458del (p.Lys153fs)
|
|
|
NM_033028.5(BBS4):c.459+13A>G
|
|
|
NM_033028.5(BBS4):c.459+15T>A
|
|
|
NM_033028.5(BBS4):c.459+1G>A
|
|
|
NM_033028.5(BBS4):c.460-15T>C
|
|
|
NM_033028.5(BBS4):c.463C>A (p.Gln155Lys)
|
rs147391634
|
|
NM_033028.5(BBS4):c.465A>G (p.Gln155=)
|
|
|
NM_033028.5(BBS4):c.469del (p.Gln157fs)
|
|
|
NM_033028.5(BBS4):c.472T>C (p.Leu158=)
|
|
|
NM_033028.5(BBS4):c.489T>C (p.Asn163=)
|
|
|
NM_033028.5(BBS4):c.48T>A (p.Thr16=)
|
|
|
NM_033028.5(BBS4):c.48T>G (p.Thr16=)
|
|
|
NM_033028.5(BBS4):c.495T>C (p.Asn165=)
|
|
|
NM_033028.5(BBS4):c.502G>A (p.Asp168Asn)
|
rs769766779
|
|
NM_033028.5(BBS4):c.502G>T (p.Asp168Tyr)
|
|
|
NM_033028.5(BBS4):c.507G>A (p.Leu169=)
|
|
|
NM_033028.5(BBS4):c.507G>T (p.Leu169=)
|
|
|
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter)
|
rs367882912
|
|
NM_033028.5(BBS4):c.514dup (p.Ile172fs)
|
|
|
NM_033028.5(BBS4):c.520C>T (p.Leu174=)
|
|
|
NM_033028.5(BBS4):c.530T>G (p.Ile177Ser)
|
rs1341828921
|
|
NM_033028.5(BBS4):c.531C>T (p.Ile177=)
|
rs2065634194
|
|
NM_033028.5(BBS4):c.534C>T (p.His178=)
|
|
|
NM_033028.5(BBS4):c.548A>G (p.Asp183Gly)
|
rs751216768
|
|
NM_033028.5(BBS4):c.549C>T (p.Asp183=)
|
|
|
NM_033028.5(BBS4):c.555C>T (p.Asp185=)
|
rs2151034397
|
|
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
|
|
|
NM_033028.5(BBS4):c.562A>G (p.Ile188Val)
|
rs2151034404
|
|
NM_033028.5(BBS4):c.566A>T (p.Glu189Val)
|
|
|
NM_033028.5(BBS4):c.570C>G (p.Val190=)
|
|
|
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys)
|
rs756915341
|
|
NM_033028.5(BBS4):c.573C>T (p.Tyr191=)
|
rs781012019
|
|
NM_033028.5(BBS4):c.57A>G (p.Gln19=)
|
|
|
NM_033028.5(BBS4):c.587+16T>A
|
|
|
NM_033028.5(BBS4):c.587+17C>A
|
rs2151034479
|
|
NM_033028.5(BBS4):c.587+17_587+21del
|
|
|
NM_033028.5(BBS4):c.588-13C>T
|
rs2151041174
|
|
NM_033028.5(BBS4):c.588-14T>C
|
|
|
NM_033028.5(BBS4):c.588-16C>T
|
|
|
NM_033028.5(BBS4):c.588-17G>T
|
rs1023807138
|
|
NM_033028.5(BBS4):c.588-4G>T
|
|
|
NM_033028.5(BBS4):c.588-9_588-8del
|
|
|
NM_033028.5(BBS4):c.596C>T (p.Pro199Leu)
|
|
|
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
|
|
|
NM_033028.5(BBS4):c.617C>A (p.Thr206Lys)
|
|
|
NM_033028.5(BBS4):c.619A>G (p.Thr207Ala)
|
rs558382374
|
|
NM_033028.5(BBS4):c.623T>A (p.Leu208Ter)
|
rs1358520224
|
|
NM_033028.5(BBS4):c.629T>C (p.Leu210Ser)
|
|
|
NM_033028.5(BBS4):c.631C>T (p.Leu211Phe)
|
rs1567426035
|
|
NM_033028.5(BBS4):c.633C>G (p.Leu211=)
|
|
|
NM_033028.5(BBS4):c.636C>T (p.Tyr212=)
|
rs1239795042
|
|
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)
|
rs1060503692
|
|
NM_033028.5(BBS4):c.640C>T (p.Gln214Ter)
|
|
|
NM_033028.5(BBS4):c.642+11C>T
|
|
|
NM_033028.5(BBS4):c.642+12T>C
|
|
|
NM_033028.5(BBS4):c.642+13_642+14del
|
|
|
NM_033028.5(BBS4):c.642+14T>A
|
|
|
NM_033028.5(BBS4):c.642+14_642+20del
|
rs886038705
|
|
NM_033028.5(BBS4):c.642+15_642+16del
|
|
|
NM_033028.5(BBS4):c.642+1G>A
|
|
|
NM_033028.5(BBS4):c.642+1G>T
|
|
|
NM_033028.5(BBS4):c.642+20C>T
|
|
|
NM_033028.5(BBS4):c.643-11T>C
|
|
|
NM_033028.5(BBS4):c.643-19T>C
|
|
|
NM_033028.5(BBS4):c.656dup (p.Lys220fs)
|
|
|
NM_033028.5(BBS4):c.66G>A (p.Arg22=)
|
|
|
NM_033028.5(BBS4):c.67C>T (p.Gln23Ter)
|
|
|
NM_033028.5(BBS4):c.683C>T (p.Ala228Val)
|
rs2151043996
|
|
NM_033028.5(BBS4):c.6T>G (p.Ala2=)
|
|
|
NM_033028.5(BBS4):c.701C>A (p.Thr234Asn)
|
rs2151044050
|
|
NM_033028.5(BBS4):c.711+12TG[3]
|
rs2065774442
|
|
NM_033028.5(BBS4):c.711+13del
|
|
|
NM_033028.5(BBS4):c.711+1G>A
|
rs2151044091
|
|
NM_033028.5(BBS4):c.711+8A>T
|
|
|
NM_033028.5(BBS4):c.712-10A>G
|
|
|
NM_033028.5(BBS4):c.712-13G>A
|
|
|
NM_033028.5(BBS4):c.712-15G>C
|
rs2065814889
|
|
NM_033028.5(BBS4):c.726A>G (p.Ala242=)
|
rs1567429245
|
|
NM_033028.5(BBS4):c.732C>T (p.Ser244=)
|
|
|
NM_033028.5(BBS4):c.740A>G (p.Gln247Arg)
|
rs746471801
|
|
NM_033028.5(BBS4):c.744C>T (p.Thr248=)
|
|
|
NM_033028.5(BBS4):c.750G>A (p.Gly250=)
|
|
|
NM_033028.5(BBS4):c.76+10C>T
|
|
|
NM_033028.5(BBS4):c.76+16C>T
|
|
|
NM_033028.5(BBS4):c.76+17A>G
|
|
|
NM_033028.5(BBS4):c.76+19G>C
|
|
|
NM_033028.5(BBS4):c.76+1G>T
|
rs1465437164
|
|
NM_033028.5(BBS4):c.76+2T>C
|
|
|
NM_033028.5(BBS4):c.76+7A>G
|
rs2150997373
|
|
NM_033028.5(BBS4):c.77-17C>T
|
rs2151016110
|
|
NM_033028.5(BBS4):c.77-4C>T
|
|
|
NM_033028.5(BBS4):c.770C>G (p.Thr257Ser)
|
|
|
NM_033028.5(BBS4):c.775T>A (p.Tyr259Asn)
|
|
|
NM_033028.5(BBS4):c.776A>T (p.Tyr259Phe)
|
rs146595193
|
|
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)
|
rs1459736027
|
|
NM_033028.5(BBS4):c.77C>T (p.Ala26Val)
|
rs2151016128
|
|
NM_033028.5(BBS4):c.780_781del (p.Arg260fs)
|
|
|
NM_033028.5(BBS4):c.789T>C (p.Ala263=)
|
|
|
NM_033028.5(BBS4):c.78T>A (p.Ala26=)
|
rs2065330472
|
|
NM_033028.5(BBS4):c.797T>G (p.Val266Gly)
|
|
|
NM_033028.5(BBS4):c.821A>G (p.Asn274Ser)
|
|
|
NM_033028.5(BBS4):c.830G>T (p.Gly277Val)
|
rs749017489
|
|
NM_033028.5(BBS4):c.836_842del (p.Cys279fs)
|
rs2151047525
|
|
NM_033028.5(BBS4):c.837T>C (p.Cys279=)
|
|
|
NM_033028.5(BBS4):c.84G>A (p.Glu28=)
|
|
|
NM_033028.5(BBS4):c.858T>C (p.Tyr286=)
|
|
|
NM_033028.5(BBS4):c.85T>G (p.Phe29Val)
|
|
|
NM_033028.5(BBS4):c.861G>A (p.Val287=)
|
|
|
NM_033028.5(BBS4):c.861G>T (p.Val287=)
|
rs1595947650
|
|
NM_033028.5(BBS4):c.863C>A (p.Ala288Glu)
|
|
|
NM_033028.5(BBS4):c.864+12del
|
|
|
NM_033028.5(BBS4):c.864+12dup
|
rs1476015172
|
|
NM_033028.5(BBS4):c.864+1G>A
|
|
|
NM_033028.5(BBS4):c.864+20C>T
|
rs753099644
|
|
NM_033028.5(BBS4):c.864+20_864+23del
|
|
|
NM_033028.5(BBS4):c.864+7G>A
|
|
|
NM_033028.5(BBS4):c.865-13T>C
|
rs371241518
|
|
NM_033028.5(BBS4):c.865-16C>G
|
|
|
NM_033028.5(BBS4):c.865-3T>C
|
|
|
NM_033028.5(BBS4):c.865-3_865-2del
|
|
|
NM_033028.5(BBS4):c.865-5C>G
|
rs2151047807
|
|
NM_033028.5(BBS4):c.865-5C>T
|
|
|
NM_033028.5(BBS4):c.870C>T (p.Ile290=)
|
|
|
NM_033028.5(BBS4):c.879G>T (p.Leu293=)
|
rs2151047861
|
|
NM_033028.5(BBS4):c.87del (p.Pro30fs)
|
|
|
NM_033028.5(BBS4):c.885A>C (p.Arg295=)
|
|
|
NM_033028.5(BBS4):c.894C>T (p.Tyr298=)
|
|
|
NM_033028.5(BBS4):c.906_907inv (p.Asp303Asn)
|
|
|
NM_033028.5(BBS4):c.921G>A (p.Leu307=)
|
|
|
NM_033028.5(BBS4):c.921G>C (p.Leu307=)
|
|
|
NM_033028.5(BBS4):c.927T>C (p.Asn309=)
|
|
|
NM_033028.5(BBS4):c.929del (p.Leu310fs)
|
rs889012564
|
|
NM_033028.5(BBS4):c.939C>T (p.Val313=)
|
|
|
NM_033028.5(BBS4):c.943T>C (p.Leu315=)
|
rs1433729329
|
|
NM_033028.5(BBS4):c.947C>T (p.Thr316Ile)
|
|
|
NM_033028.5(BBS4):c.94T>C (p.Leu32=)
|
rs771325848
|
|
NM_033028.5(BBS4):c.952C>T (p.Gln318Ter)
|
rs1567430070
|
|
NM_033028.5(BBS4):c.956A>G (p.Gln319Arg)
|
rs1595948085
|
|
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)
|
rs770891152
|
|
NM_033028.5(BBS4):c.961G>C (p.Ala321Pro)
|
|
|
NM_033028.5(BBS4):c.984T>C (p.Ser328=)
|
|
|
NM_033028.5(BBS4):c.988G>A (p.Ala330Thr)
|
rs2065827621
|
|
NM_033028.5(BBS4):c.991A>G (p.Ile331Val)
|
rs1316841175
|
|
NM_033028.5(BBS4):c.991A>T (p.Ile331Phe)
|
|
|
NM_033028.5(BBS4):c.994A>G (p.Asn332Asp)
|
rs2065827783
|
|
NM_033028.5(BBS4):c.998T>A (p.Phe333Tyr)
|
|
|
NM_033028.5(BBS4):c.99G>A (p.Glu33=)
|
|
|
NM_033028.5(BBS4):c.9G>A (p.Glu3=)
|
|
|
NM_144596.4(TTC8):c.1021C>T (p.Gln341Ter)
|
rs2141033426
|
|
NM_144596.4(TTC8):c.1022A>G (p.Gln341Arg)
|
rs2094927980
|
|
NM_144596.4(TTC8):c.1026A>G (p.Pro342=)
|
|
|
NM_144596.4(TTC8):c.1029_1032dup (p.Ala345fs)
|
|
|
NM_144596.4(TTC8):c.1033G>A (p.Ala345Thr)
|
|
|
NM_144596.4(TTC8):c.1039C>T (p.Arg347Trp)
|
|
|
NM_144596.4(TTC8):c.1049+11C>T
|
rs762777832
|
|
NM_144596.4(TTC8):c.1049+2_1049+4del
|
rs587777807
|
|
NM_144596.4(TTC8):c.1049+7T>G
|
|
|
NM_144596.4(TTC8):c.104C>A (p.Pro35His)
|
rs2094691079
|
|
NM_144596.4(TTC8):c.1050-13C>G
|
|
|
NM_144596.4(TTC8):c.1050-20G>A
|
|
|
NM_144596.4(TTC8):c.1050G>T (p.Arg350Ser)
|
rs2094933981
|
|
NM_144596.4(TTC8):c.1069A>G (p.Ile357Val)
|
|
|
NM_144596.4(TTC8):c.106dup (p.Tyr36fs)
|
rs2094691095
|
|
NM_144596.4(TTC8):c.1071T>A (p.Ile357=)
|
|
|
NM_144596.4(TTC8):c.1073A>T (p.Tyr358Phe)
|
rs951491897
|
|
NM_144596.4(TTC8):c.1084C>G (p.Leu362Val)
|
rs2094934211
|
|
NM_144596.4(TTC8):c.1101G>C (p.Gly367=)
|
rs2141036668
|
|
NM_144596.4(TTC8):c.1102C>T (p.Leu368=)
|
|
|
NM_144596.4(TTC8):c.1118C>A (p.Ala373Asp)
|
rs768465465
|
|
NM_144596.4(TTC8):c.1124A>C (p.Gln375Pro)
|
rs774216735
|
|
NM_144596.4(TTC8):c.1125G>A (p.Gln375=)
|
rs2141036744
|
|
NM_144596.4(TTC8):c.112C>T (p.Gln38Ter)
|
|
|
NM_144596.4(TTC8):c.113A>G (p.Gln38Arg)
|
rs1224545398
|
|
NM_144596.4(TTC8):c.114+15C>G
|
|
|
NM_144596.4(TTC8):c.114+19C>T
|
|
|
NM_144596.4(TTC8):c.114+2T>C
|
rs1273244823
|
|
NM_144596.4(TTC8):c.114+5C>T
|
|
|
NM_144596.4(TTC8):c.114+7G>C
|
|
|
NM_144596.4(TTC8):c.1147T>C (p.Phe383Leu)
|
rs2094934479
|
|
NM_144596.4(TTC8):c.114G>T (p.Gln38His)
|
rs2094691170
|
|
NM_144596.4(TTC8):c.1154G>A (p.Arg385His)
|
|
|
NM_144596.4(TTC8):c.1185G>C (p.Glu395Asp)
|
rs1375783683
|
|
NM_144596.4(TTC8):c.1214A>G (p.His405Arg)
|
|
|
NM_144596.4(TTC8):c.1224+15T>C
|
rs777976437
|
|
NM_144596.4(TTC8):c.1224+15T>G
|
|
|
NM_144596.4(TTC8):c.1224+20T>C
|
|
|
NM_144596.4(TTC8):c.1224+8G>T
|
|
|
NM_144596.4(TTC8):c.1225-12T>C
|
|
|
NM_144596.4(TTC8):c.1225-18A>G
|
|
|
NM_144596.4(TTC8):c.1225-4G>T
|
rs2094937777
|
|
NM_144596.4(TTC8):c.1233A>T (p.Gly411=)
|
|
|
NM_144596.4(TTC8):c.1234G>T (p.Asp412Tyr)
|
|
|
NM_144596.4(TTC8):c.1237A>C (p.Thr413Pro)
|
|
|
NM_144596.4(TTC8):c.1276AAC[3] (p.Asn429del)
|
rs750442302
|
|
NM_144596.4(TTC8):c.1276AAC[5] (p.Asn429dup)
|
rs750442302
|
|
NM_144596.4(TTC8):c.1277A>G (p.Asn426Ser)
|
|
|
NM_144596.4(TTC8):c.1281C>T (p.Asn427=)
|
|
|
NM_144596.4(TTC8):c.1285A>C (p.Asn429His)
|
|
|
NM_144596.4(TTC8):c.1308C>T (p.Asn436=)
|
rs756352262
|
|
NM_144596.4(TTC8):c.1324A>G (p.Met442Val)
|
rs1259630992
|
|
NM_144596.4(TTC8):c.1327C>A (p.Arg443=)
|
rs140698625
|
|
NM_144596.4(TTC8):c.1340T>C (p.Val447Ala)
|
|
|
NM_144596.4(TTC8):c.1347+7G>C
|
rs774856265
|
|
NM_144596.4(TTC8):c.1356A>G (p.Ala452=)
|
rs2141044281
|
|
NM_144596.4(TTC8):c.1360T>G (p.Leu454Val)
|
|
|
NM_144596.4(TTC8):c.1363C>G (p.Gln455Glu)
|
rs773278542
|
|
NM_144596.4(TTC8):c.1385C>G (p.Pro462Arg)
|
rs2141044395
|
|
NM_144596.4(TTC8):c.1387del (p.His463fs)
|
rs2141044380
|
|
NM_144596.4(TTC8):c.1388A>T (p.His463Leu)
|
rs2141044398
|
|
NM_144596.4(TTC8):c.1394A>G (p.Tyr465Cys)
|
|
|
NM_144596.4(TTC8):c.1401G>T (p.Pro467=)
|
|
|
NM_144596.4(TTC8):c.1418C>T (p.Thr473Ile)
|
rs762313028
|
|
NM_144596.4(TTC8):c.1423T>A (p.Ser475Thr)
|
rs2141044512
|
|
NM_144596.4(TTC8):c.1424C>T (p.Ser475Phe)
|
|
|
NM_144596.4(TTC8):c.1431+10T>G
|
|
|
NM_144596.4(TTC8):c.1431+1G>T
|
rs779743153
|
|
NM_144596.4(TTC8):c.1431+20_1431+24del
|
|
|
NM_144596.4(TTC8):c.1431+3A>G
|
rs2094951653
|
|
NM_144596.4(TTC8):c.1431+8C>G
|
|
|
NM_144596.4(TTC8):c.1432A>T (p.Ile478Phe)
|
rs753441040
|
|
NM_144596.4(TTC8):c.1441C>A (p.Leu481Met)
|
|
|
NM_144596.4(TTC8):c.1449A>G (p.Arg483=)
|
|
|
NM_144596.4(TTC8):c.1452C>T (p.Ser484=)
|
rs1353769883
|
|
NM_144596.4(TTC8):c.1464G>A (p.Ala488=)
|
rs142073418
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_144596.4(TTC8):c.1465C>T (p.Gln489Ter)
|
|
|
NM_144596.4(TTC8):c.1487C>T (p.Pro496Leu)
|
|
|
NM_144596.4(TTC8):c.1491C>T (p.Asp497=)
|
rs886050878
|
|
NM_144596.4(TTC8):c.1495G>A (p.Val499Met)
|
rs538188579
|
|
NM_144596.4(TTC8):c.1503A>G (p.Thr501=)
|
rs1754480274
|
|
NM_144596.4(TTC8):c.1530G>A (p.Gln510=)
|
|
|
NM_144596.4(TTC8):c.1542G>T (p.Met514Ile)
|
rs571571526
|
|
NM_144596.4(TTC8):c.156C>T (p.Ile52=)
|
rs2140973252
|
|
NM_144596.4(TTC8):c.163G>A (p.Ala55Thr)
|
|
|
NM_144596.4(TTC8):c.172C>A (p.Leu58Ile)
|
|
|
NM_144596.4(TTC8):c.174A>G (p.Leu58=)
|
|
|
NM_144596.4(TTC8):c.177A>G (p.Thr59=)
|
|
|
NM_144596.4(TTC8):c.183G>A (p.Met61Ile)
|
|
|
NM_144596.4(TTC8):c.192A>G (p.Ile64Met)
|
|
|
NM_144596.4(TTC8):c.193G>A (p.Asp65Asn)
|
rs2094769718
|
|
NM_144596.4(TTC8):c.1A>G (p.Met1Val)
|
rs747906724
|
|
NM_144596.4(TTC8):c.1A>T (p.Met1Leu)
|
|
|
NM_144596.4(TTC8):c.221T>C (p.Ile74Thr)
|
rs2094769961
|
|
NM_144596.4(TTC8):c.222T>C (p.Ile74=)
|
|
|
NM_144596.4(TTC8):c.224C>A (p.Ala75Glu)
|
|
|
NM_144596.4(TTC8):c.250A>G (p.Ile84Val)
|
|
|
NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)
|
|
|
NM_144596.4(TTC8):c.265+19G>C
|
|
|
NM_144596.4(TTC8):c.265+8T>G
|
rs182898340
|
|
NM_144596.4(TTC8):c.266-10del
|
rs759785529
|
|
NM_144596.4(TTC8):c.266-2A>G
|
rs2140976096
|
|
NM_144596.4(TTC8):c.266-4C>A
|
|
|
NM_144596.4(TTC8):c.276G>A (p.Thr92=)
|
|
|
NM_144596.4(TTC8):c.293G>A (p.Gly98Glu)
|
rs1566836961
|
|
NM_144596.4(TTC8):c.293del (p.Gly98fs)
|
rs1271312946
|
|
NM_144596.4(TTC8):c.2T>C (p.Met1Thr)
|
rs776086794
|
|
NM_144596.4(TTC8):c.311G>A (p.Gly104Glu)
|
|
|
NM_144596.4(TTC8):c.313C>T (p.Pro105Ser)
|
rs2094777358
|
|
NM_144596.4(TTC8):c.324C>T (p.Ala108=)
|
rs571883979
|
|
NM_144596.4(TTC8):c.329+11C>G
|
|
|
NM_144596.4(TTC8):c.329+12T>C
|
rs2140976349
|
|
NM_144596.4(TTC8):c.329+18A>G
|
|
|
NM_144596.4(TTC8):c.329+4T>C
|
|
|
NM_144596.4(TTC8):c.332C>T (p.Pro111Leu)
|
rs2094778322
|
|
NM_144596.4(TTC8):c.336C>G (p.Ile112Met)
|
rs2140976682
|
|
NM_144596.4(TTC8):c.341A>G (p.Gln114Arg)
|
|
|
NM_144596.4(TTC8):c.34T>G (p.Trp12Gly)
|
rs2140944058
|
|
NM_144596.4(TTC8):c.354C>A (p.Pro118=)
|
rs2140976722
|
|
NM_144596.4(TTC8):c.366C>T (p.Phe122=)
|
|
|
NM_144596.4(TTC8):c.370A>G (p.Arg124Gly)
|
|
|
NM_144596.4(TTC8):c.375C>T (p.Pro125=)
|
|
|
NM_144596.4(TTC8):c.380C>A (p.Thr127Lys)
|
rs369803125
|
|
NM_144596.4(TTC8):c.380C>T (p.Thr127Met)
|
rs369803125
|
|
NM_144596.4(TTC8):c.381G>A (p.Thr127=)
|
|
|
NM_144596.4(TTC8):c.383A>C (p.Gln128Pro)
|
rs2140976838
|
|
NM_144596.4(TTC8):c.384G>C (p.Gln128His)
|
|
|
NM_144596.4(TTC8):c.390A>G (p.Gly130=)
|
|
|
NM_144596.4(TTC8):c.398G>A (p.Gly133Asp)
|
|
|
NM_144596.4(TTC8):c.410A>G (p.Gln137Arg)
|
rs1337021580
|
|
NM_144596.4(TTC8):c.415A>C (p.Ile139Leu)
|
rs766062841
|
|
NM_144596.4(TTC8):c.418A>G (p.Arg140Gly)
|
rs2140976960
|
|
NM_144596.4(TTC8):c.422C>A (p.Thr141Lys)
|
|
|
NM_144596.4(TTC8):c.429A>C (p.Arg143Ser)
|
rs1472731626
|
|
NM_144596.4(TTC8):c.430A>C (p.Thr144Pro)
|
|
|
NM_144596.4(TTC8):c.432C>A (p.Thr144=)
|
rs748561167
|
|
NM_144596.4(TTC8):c.438C>T (p.Tyr146=)
|
rs2140977060
|
|
NM_144596.4(TTC8):c.446G>T (p.Arg149Leu)
|
rs768271175
|
|
NM_144596.4(TTC8):c.465C>G (p.Ser155=)
|
|
|
NM_144596.4(TTC8):c.470G>C (p.Arg157Thr)
|
rs754686957
|
|
NM_144596.4(TTC8):c.477C>T (p.Val159=)
|
|
|
NM_144596.4(TTC8):c.488C>T (p.Thr163Met)
|
rs758942370
|
|
NM_144596.4(TTC8):c.490-9C>A
|
rs770386094
|
|
NM_144596.4(TTC8):c.490-9C>T
|
rs770386094
|
|
NM_144596.4(TTC8):c.490G>A (p.Ala164Thr)
|
rs184952059
|
|
NM_144596.4(TTC8):c.506G>A (p.Ser169Asn)
|
|
|
NM_144596.4(TTC8):c.507T>C (p.Ser169=)
|
|
|
NM_144596.4(TTC8):c.509C>T (p.Pro170Leu)
|
rs1006330985
|
|
NM_144596.4(TTC8):c.512A>G (p.Asp171Gly)
|
|
|
NM_144596.4(TTC8):c.514G>A (p.Gly172Arg)
|
|
|
NM_144596.4(TTC8):c.517C>T (p.Pro173Ser)
|
rs2140977797
|
|
NM_144596.4(TTC8):c.528T>C (p.Asn176=)
|
rs1555391010
|
|
NM_144596.4(TTC8):c.52A>C (p.Arg18=)
|
|
|
NM_144596.4(TTC8):c.531A>T (p.Leu177Phe)
|
|
|
NM_144596.4(TTC8):c.552G>A (p.Lys184=)
|
rs2094781397
|
|
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)
|
rs376035653
|
|
NM_144596.4(TTC8):c.573G>C (p.Leu191Phe)
|
|
|
NM_144596.4(TTC8):c.579+19T>G
|
|
|
NM_144596.4(TTC8):c.579+5G>A
|
rs2140977987
|
|
NM_144596.4(TTC8):c.579+7A>G
|
rs2140977991
|
|
NM_144596.4(TTC8):c.585G>A (p.Leu195=)
|
|
|
NM_144596.4(TTC8):c.589G>C (p.Glu197Gln)
|
|
|
NM_144596.4(TTC8):c.5G>T (p.Ser2Ile)
|
|
|
NM_144596.4(TTC8):c.600dup (p.His201fs)
|
|
|
NM_144596.4(TTC8):c.602A>G (p.His201Arg)
|
rs1328638709
|
|
NM_144596.4(TTC8):c.616G>A (p.Val206Ile)
|
|
|
NM_144596.4(TTC8):c.616_618del (p.Val206del)
|
rs1411331191
|
|
NM_144596.4(TTC8):c.624+19C>G
|
|
|
NM_144596.4(TTC8):c.624+8T>C
|
rs2140982585
|
|
NM_144596.4(TTC8):c.625-20A>G
|
|
|
NM_144596.4(TTC8):c.62A>G (p.Gln21Arg)
|
rs2094690662
|
|
NM_144596.4(TTC8):c.62A>T (p.Gln21Leu)
|
rs2094690662
|
|
NM_144596.4(TTC8):c.630G>T (p.Leu210Phe)
|
rs2094839899
|
|
NM_144596.4(TTC8):c.659C>T (p.Ser220Phe)
|
rs2094840063
|
|
NM_144596.4(TTC8):c.662A>G (p.Gln221Arg)
|
|
|
NM_144596.4(TTC8):c.665A>G (p.Tyr222Cys)
|
rs1257221355
|
|
NM_144596.4(TTC8):c.674G>A (p.Trp225Ter)
|
rs2140999501
|
|
NM_144596.4(TTC8):c.676T>C (p.Trp226Arg)
|
rs2140999509
|
|
NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)
|
|
|
NM_144596.4(TTC8):c.69C>T (p.Cys23=)
|
rs749406406
|
|
NM_144596.4(TTC8):c.700T>A (p.Cys234Ser)
|
|
|
NM_144596.4(TTC8):c.704A>G (p.Tyr235Cys)
|
rs1445461942
|
|
NM_144596.4(TTC8):c.710+1G>A
|
rs2140999630
|
|
NM_144596.4(TTC8):c.710+4A>C
|
rs1352481954
|
|
NM_144596.4(TTC8):c.711-13T>C
|
|
|
NM_144596.4(TTC8):c.714G>A (p.Leu238=)
|
rs1435283670
|
|
NM_144596.4(TTC8):c.715G>C (p.Gly239Arg)
|
rs374351698
|
|
NM_144596.4(TTC8):c.720G>A (p.Met240Ile)
|
rs1051402043
|
|
NM_144596.4(TTC8):c.725G>A (p.Arg242His)
|
|
|
NM_144596.4(TTC8):c.727G>A (p.Glu243Lys)
|
rs1419727328
|
|
NM_144596.4(TTC8):c.729A>G (p.Glu243=)
|
|
|
NM_144596.4(TTC8):c.738A>G (p.Lys246=)
|
|
|
NM_144596.4(TTC8):c.73G>T (p.Asp25Tyr)
|
rs772967779
|
|
NM_144596.4(TTC8):c.749C>T (p.Ser250Leu)
|
rs943156593
|
|
NM_144596.4(TTC8):c.758A>G (p.Lys253Arg)
|
|
|
NM_144596.4(TTC8):c.776A>T (p.Asp259Val)
|
rs2141007421
|
|
NM_144596.4(TTC8):c.777T>C (p.Asp259=)
|
rs1164321723
|
|
NM_144596.4(TTC8):c.784C>T (p.Leu262=)
|
|
|
NM_144596.4(TTC8):c.785T>C (p.Leu262Pro)
|
rs1459496188
|
|
NM_144596.4(TTC8):c.785T>G (p.Leu262Arg)
|
|
|
NM_144596.4(TTC8):c.786G>A (p.Leu262=)
|
rs2094861022
|
|
NM_144596.4(TTC8):c.789C>T (p.Tyr263=)
|
|
|
NM_144596.4(TTC8):c.799-10T>C
|
|
|
NM_144596.4(TTC8):c.799-1G>T
|
|
|
NM_144596.4(TTC8):c.799-20G>T
|
|
|
NM_144596.4(TTC8):c.799-2A>G
|
rs771218088
|
|
NM_144596.4(TTC8):c.79T>C (p.Cys27Arg)
|
rs2094690812
|
|
NM_144596.4(TTC8):c.810A>C (p.Ser270=)
|
|
|
NM_144596.4(TTC8):c.814G>A (p.Asp272Asn)
|
|
|
NM_144596.4(TTC8):c.816T>A (p.Asp272Glu)
|
|
|
NM_144596.4(TTC8):c.83C>A (p.Thr28Lys)
|
rs1169043172
|
|
NM_144596.4(TTC8):c.857A>G (p.Asp286Gly)
|
|
|
NM_144596.4(TTC8):c.864T>C (p.Phe288=)
|
|
|
NM_144596.4(TTC8):c.865C>T (p.Pro289Ser)
|
rs2141016153
|
|
NM_144596.4(TTC8):c.872A>G (p.Glu291Gly)
|
|
|
NM_144596.4(TTC8):c.878C>A (p.Thr293Asn)
|
rs1028407834
|
|
NM_144596.4(TTC8):c.882G>A (p.Leu294=)
|
|
|
NM_144596.4(TTC8):c.890G>A (p.Gly297Glu)
|
|
|
NM_144596.4(TTC8):c.8C>G (p.Ser3Trp)
|
rs752229926
|
|
NM_144596.4(TTC8):c.8C>T (p.Ser3Leu)
|
rs752229926
|
|
NM_144596.4(TTC8):c.901_905del (p.Arg300_Ile301insTer)
|
|
|
NM_144596.4(TTC8):c.903C>G (p.Ile301Met)
|
|
|
NM_144596.4(TTC8):c.903C>T (p.Ile301=)
|
rs2141016259
|
|
NM_144596.4(TTC8):c.909+10G>A
|
rs1566851784
|
|
NM_144596.4(TTC8):c.910-1G>A
|
rs2141033061
|
|
NM_144596.4(TTC8):c.910-6G>A
|
|
|
NM_144596.4(TTC8):c.923T>C (p.Met308Thr)
|
rs2094927396
|
|
NM_144596.4(TTC8):c.935C>A (p.Ala312Glu)
|
rs1010519307
|
|
NM_144596.4(TTC8):c.936del (p.Glu313fs)
|
|
|
NM_144596.4(TTC8):c.942T>C (p.Tyr314=)
|
rs1340345868
|
|
NM_144596.4(TTC8):c.943T>G (p.Tyr315Asp)
|
rs2094927520
|
|
NM_144596.4(TTC8):c.948A>G (p.Lys316=)
|
|
|
NM_144596.4(TTC8):c.949G>A (p.Glu317Lys)
|
|
|
NM_144596.4(TTC8):c.964G>A (p.Asp322Asn)
|
rs2094927630
|
|
NM_144596.4(TTC8):c.96G>A (p.Glu32=)
|
|
|
NM_144596.4(TTC8):c.976G>T (p.Val326Leu)
|
|
|
NM_144596.4(TTC8):c.983C>T (p.Ala328Val)
|
rs755533153
|
|
NM_152384.2(BBS5):c.925_931del
|
|
|
NM_152384.3(BBS5):c.1001A>G (p.Gln334Arg)
|
rs2105304403
|
|
NM_152384.3(BBS5):c.1003G>C (p.Gly335Arg)
|
|
|
NM_152384.3(BBS5):c.1005A>G (p.Gly335=)
|
|
|
NM_152384.3(BBS5):c.1009T>C (p.Trp337Arg)
|
|
|
NM_152384.3(BBS5):c.1023T>C (p.Ser341=)
|
rs1488371231
|
|
NM_152384.3(BBS5):c.106T>A (p.Ser36Thr)
|
rs1683411036
|
|
NM_152384.3(BBS5):c.108C>A (p.Ser36=)
|
|
|
NM_152384.3(BBS5):c.120C>A (p.Thr40=)
|
|
|
NM_152384.3(BBS5):c.123del (p.Gly42fs)
|
rs1272140892
|
|
NM_152384.3(BBS5):c.135A>G (p.Gly45=)
|
|
|
NM_152384.3(BBS5):c.142+19G>A
|
|
|
NM_152384.3(BBS5):c.142+1G>T
|
rs2105291750
|
|
NM_152384.3(BBS5):c.142+3G>T
|
rs2105291754
|
|
NM_152384.3(BBS5):c.142+3_142+10dup
|
rs1476627714
|
|
NM_152384.3(BBS5):c.142+9A>G
|
rs2105291758
|
|
NM_152384.3(BBS5):c.143-12G>C
|
|
|
NM_152384.3(BBS5):c.143-13TG[2]
|
|
|
NM_152384.3(BBS5):c.143-19T>C
|
|
|
NM_152384.3(BBS5):c.143-1G>A
|
rs1054138918
|
|
NM_152384.3(BBS5):c.143-7C>T
|
rs1574336588
|
|
NM_152384.3(BBS5):c.171T>C (p.Ile57=)
|
|
|
NM_152384.3(BBS5):c.174C>G (p.Leu58=)
|
rs1683499085
|
|
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)
|
rs767221160
|
|
NM_152384.3(BBS5):c.17C>A (p.Ala6Glu)
|
|
|
NM_152384.3(BBS5):c.17C>T (p.Ala6Val)
|
rs1307558837
|
|
NM_152384.3(BBS5):c.180C>T (p.His60=)
|
|
|
NM_152384.3(BBS5):c.189A>T (p.Ala63=)
|
|
|
NM_152384.3(BBS5):c.18G>T (p.Ala6=)
|
|
|
NM_152384.3(BBS5):c.1A>T (p.Met1Leu)
|
|
|
NM_152384.3(BBS5):c.208+13G>T
|
|
|
NM_152384.3(BBS5):c.208+5G>T
|
rs745646726
|
|
NM_152384.3(BBS5):c.209-17T>C
|
|
|
NM_152384.3(BBS5):c.209-19C>T
|
|
|
NM_152384.3(BBS5):c.209-9G>A
|
|
|
NM_152384.3(BBS5):c.210T>C (p.Ser70=)
|
|
|
NM_152384.3(BBS5):c.211G>A (p.Val71Ile)
|
rs1397496181
|
|
NM_152384.3(BBS5):c.219C>T (p.Tyr73=)
|
rs2105294702
|
|
NM_152384.3(BBS5):c.237T>C (p.Ile79=)
|
|
|
NM_152384.3(BBS5):c.246G>A (p.Arg82=)
|
|
|
NM_152384.3(BBS5):c.24G>C (p.Trp8Cys)
|
|
|
NM_152384.3(BBS5):c.255C>T (p.Asn85=)
|
|
|
NM_152384.3(BBS5):c.258+14A>G
|
|
|
NM_152384.3(BBS5):c.258+14dup
|
|
|
NM_152384.3(BBS5):c.258+19A>G
|
|
|
NM_152384.3(BBS5):c.258+5G>A
|
|
|
NM_152384.3(BBS5):c.258+7C>G
|
|
|
NM_152384.3(BBS5):c.259-10_259-6dup
|
|
|
NM_152384.3(BBS5):c.259-12T>A
|
|
|
NM_152384.3(BBS5):c.259-13T>A
|
|
|
NM_152384.3(BBS5):c.259-1G>A
|
|
|
NM_152384.3(BBS5):c.259-3C>G
|
rs564412855
|
|
NM_152384.3(BBS5):c.259-7C>G
|
|
|
NM_152384.3(BBS5):c.259-8C>T
|
|
|
NM_152384.3(BBS5):c.25G>C (p.Glu9Gln)
|
rs1363954560
|
|
NM_152384.3(BBS5):c.283C>G (p.Leu95Val)
|
|
|
NM_152384.3(BBS5):c.293T>C (p.Leu98Pro)
|
|
|
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
|
rs1683515617
|
|
NM_152384.3(BBS5):c.313C>T (p.Arg105Cys)
|
rs764755791
|
|
NM_152384.3(BBS5):c.342T>G (p.Val114=)
|
|
|
NM_152384.3(BBS5):c.345T>G (p.Pro115=)
|
|
|
NM_152384.3(BBS5):c.347G>A (p.Gly116Glu)
|
rs1683516352
|
|
NM_152384.3(BBS5):c.347G>C (p.Gly116Ala)
|
rs1683516352
|
|
NM_152384.3(BBS5):c.34G>A (p.Asp12Asn)
|
|
|
NM_152384.3(BBS5):c.353C>G (p.Pro118Arg)
|
|
|
NM_152384.3(BBS5):c.365C>A (p.Thr122Asn)
|
|
|
NM_152384.3(BBS5):c.365C>T (p.Thr122Ile)
|
rs74271896
|
|
NM_152384.3(BBS5):c.381A>T (p.Val127=)
|
|
|
NM_152384.3(BBS5):c.386+10T>C
|
|
|
NM_152384.3(BBS5):c.386+11A>G
|
|
|
NM_152384.3(BBS5):c.386+13T>C
|
|
|
NM_152384.3(BBS5):c.387-10T>G
|
|
|
NM_152384.3(BBS5):c.387-14del
|
|
|
NM_152384.3(BBS5):c.387-15_387-12del
|
rs756793669
|
|
NM_152384.3(BBS5):c.387-18G>C
|
|
|
NM_152384.3(BBS5):c.387-4A>T
|
|
|
NM_152384.3(BBS5):c.399T>C (p.Thr133=)
|
|
|
NM_152384.3(BBS5):c.406del (p.Met136fs)
|
rs2105297751
|
|
NM_152384.3(BBS5):c.413G>C (p.Arg138Pro)
|
|
|
NM_152384.3(BBS5):c.424T>C (p.Leu142=)
|
|
|
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)
|
rs1574339529
|
|
NM_152384.3(BBS5):c.428G>A (p.Arg143Lys)
|
|
|
NM_152384.3(BBS5):c.444del (p.Asn149fs)
|
|
|
NM_152384.3(BBS5):c.449A>G (p.Lys150Arg)
|
rs1214512447
|
|
NM_152384.3(BBS5):c.452A>C (p.Gln151Pro)
|
|
|
NM_152384.3(BBS5):c.45C>T (p.Phe15=)
|
|
|
NM_152384.3(BBS5):c.477T>C (p.His159=)
|
|
|
NM_152384.3(BBS5):c.479T>C (p.Val160Ala)
|
|
|
NM_152384.3(BBS5):c.47A>T (p.Asp16Val)
|
|
|
NM_152384.3(BBS5):c.492A>C (p.Ile164=)
|
|
|
NM_152384.3(BBS5):c.520C>T (p.Gln174Ter)
|
rs2105297825
|
|
NM_152384.3(BBS5):c.522+10A>G
|
|
|
NM_152384.3(BBS5):c.522+4T>C
|
rs2105297829
|
|
NM_152384.3(BBS5):c.522+8G>A
|
|
|
NM_152384.3(BBS5):c.523-10T>C
|
|
|
NM_152384.3(BBS5):c.523-20C>G
|
rs2105298167
|
|
NM_152384.3(BBS5):c.523-4A>G
|
|
|
NM_152384.3(BBS5):c.523-5del
|
|
|
NM_152384.3(BBS5):c.531A>G (p.Leu177=)
|
rs2105298185
|
|
NM_152384.3(BBS5):c.536C>T (p.Thr179Ile)
|
rs1272114286
|
|
NM_152384.3(BBS5):c.54C>A (p.Ser18=)
|
|
|
NM_152384.3(BBS5):c.54C>G (p.Ser18=)
|
|
|
NM_152384.3(BBS5):c.54dup (p.Ala19fs)
|
|
|
NM_152384.3(BBS5):c.556_557delinsTA (p.Arg186Ter)
|
|
|
NM_152384.3(BBS5):c.562dup (p.Val188fs)
|
|
|
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)
|
rs1683644662
|
|
NM_152384.3(BBS5):c.569A>C (p.His190Pro)
|
rs755408078
|
|
NM_152384.3(BBS5):c.576T>C (p.Asn192=)
|
|
|
NM_152384.3(BBS5):c.57G>T (p.Ala19=)
|
rs2105290048
|
|
NM_152384.3(BBS5):c.58C>T (p.Gln20Ter)
|
|
|
NM_152384.3(BBS5):c.59+12A>G
|
|
|
NM_152384.3(BBS5):c.59+13G>T
|
|
|
NM_152384.3(BBS5):c.59+13del
|
|
|
NM_152384.3(BBS5):c.59+19C>A
|
|
|
NM_152384.3(BBS5):c.59+5G>A
|
rs2105290053
|
|
NM_152384.3(BBS5):c.59+5G>T
|
|
|
NM_152384.3(BBS5):c.598A>G (p.Ser200Gly)
|
rs2105298246
|
|
NM_152384.3(BBS5):c.5_8dup (p.Leu4fs)
|
|
|
NM_152384.3(BBS5):c.60-11A>G
|
|
|
NM_152384.3(BBS5):c.60-14T>C
|
|
|
NM_152384.3(BBS5):c.60-17C>T
|
|
|
NM_152384.3(BBS5):c.60-19A>G
|
rs2105291694
|
|
NM_152384.3(BBS5):c.60-19A>T
|
|
|
NM_152384.3(BBS5):c.60-2A>C
|
|
|
NM_152384.3(BBS5):c.60-7A>T
|
|
|
NM_152384.3(BBS5):c.60-9T>G
|
|
|
NM_152384.3(BBS5):c.603A>G (p.Ile201Met)
|
|
|
NM_152384.3(BBS5):c.607T>C (p.Tyr203His)
|
|
|
NM_152384.3(BBS5):c.618+10T>C
|
|
|
NM_152384.3(BBS5):c.618+11dup
|
|
|
NM_152384.3(BBS5):c.618+12C>A
|
|
|
NM_152384.3(BBS5):c.618+12C>T
|
|
|
NM_152384.3(BBS5):c.618+14_618+18del
|
rs2105298276
|
|
NM_152384.3(BBS5):c.618+20T>A
|
rs2105298279
|
|
NM_152384.3(BBS5):c.619-16_619-15del
|
rs762885469
|
|
NM_152384.3(BBS5):c.619-19_619-14del
|
rs776922529
|
|
NM_152384.3(BBS5):c.619C>T (p.Arg207Cys)
|
|
|
NM_152384.3(BBS5):c.623C>T (p.Ser208Leu)
|
|
|
NM_152384.3(BBS5):c.642A>G (p.Ser214=)
|
|
|
NM_152384.3(BBS5):c.649G>A (p.Gly217Ser)
|
rs1427534237
|
|
NM_152384.3(BBS5):c.655del (p.Ala219fs)
|
rs2105300418
|
|
NM_152384.3(BBS5):c.658C>T (p.Leu220Phe)
|
|
|
NM_152384.3(BBS5):c.670A>C (p.Ser224Arg)
|
|
|
NM_152384.3(BBS5):c.674C>G (p.Ser225Cys)
|
rs776533440
|
|
NM_152384.3(BBS5):c.681+10T>G
|
|
|
NM_152384.3(BBS5):c.681+13A>G
|
|
|
NM_152384.3(BBS5):c.681+15A>C
|
|
|
NM_152384.3(BBS5):c.681+15A>G
|
rs1262881139
|
|
NM_152384.3(BBS5):c.681+19T>C
|
|
|
NM_152384.3(BBS5):c.681+1G>T
|
|
|
NM_152384.3(BBS5):c.681+8C>G
|
|
|
NM_152384.3(BBS5):c.682-16A>T
|
|
|
NM_152384.3(BBS5):c.682-20T>A
|
|
|
NM_152384.3(BBS5):c.682-5T>C
|
rs1256635364
|
|
NM_152384.3(BBS5):c.682-6T>A
|
|
|
NM_152384.3(BBS5):c.682-7C>A
|
|
|
NM_152384.3(BBS5):c.682-9C>A
|
|
|
NM_152384.3(BBS5):c.689G>A (p.Gly230Glu)
|
rs1683759336
|
|
NM_152384.3(BBS5):c.6G>A (p.Ser2=)
|
|
|
NM_152384.3(BBS5):c.6G>C (p.Ser2=)
|
|
|
NM_152384.3(BBS5):c.708A>G (p.Lys236=)
|
|
|
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)
|
rs1471916487
|
|
NM_152384.3(BBS5):c.714T>A (p.Asp238Glu)
|
|
|
NM_152384.3(BBS5):c.720G>A (p.Val240=)
|
|
|
NM_152384.3(BBS5):c.729A>T (p.Leu243=)
|
|
|
NM_152384.3(BBS5):c.740T>G (p.Val247Gly)
|
|
|
NM_152384.3(BBS5):c.748A>C (p.Ile250Leu)
|
rs2105301621
|
|
NM_152384.3(BBS5):c.752A>G (p.Asn251Ser)
|
rs779916920
|
|
NM_152384.3(BBS5):c.764A>G (p.Lys255Arg)
|
rs2105301646
|
|
NM_152384.3(BBS5):c.776C>T (p.Ala259Val)
|
rs1246115410
|
|
NM_152384.3(BBS5):c.788T>C (p.Phe263Ser)
|
rs969475017
|
|
NM_152384.3(BBS5):c.789T>C (p.Phe263=)
|
|
|
NM_152384.3(BBS5):c.790G>A (p.Gly264Arg)
|
rs2105301667
|
|
NM_152384.3(BBS5):c.799T>G (p.Tyr267Asp)
|
|
|
NM_152384.3(BBS5):c.814A>G (p.Lys272Glu)
|
rs763705177
|
|
NM_152384.3(BBS5):c.816+15A>T
|
|
|
NM_152384.3(BBS5):c.816+17G>A
|
|
|
NM_152384.3(BBS5):c.816+7T>C
|
|
|
NM_152384.3(BBS5):c.817-10T>A
|
rs1683838280
|
|
NM_152384.3(BBS5):c.817-1G>A
|
rs1466289570
|
|
NM_152384.3(BBS5):c.825G>T (p.Pro275=)
|
|
|
NM_152384.3(BBS5):c.828C>T (p.Leu276=)
|
|
|
NM_152384.3(BBS5):c.839C>A (p.Thr280Lys)
|
rs1683839253
|
|
NM_152384.3(BBS5):c.843C>T (p.Val281=)
|
|
|
NM_152384.3(BBS5):c.844G>T (p.Glu282Ter)
|
|
|
NM_152384.3(BBS5):c.855A>G (p.Gln285=)
|
|
|
NM_152384.3(BBS5):c.867A>G (p.Glu289=)
|
rs767142551
|
|
NM_152384.3(BBS5):c.873C>T (p.Asp291=)
|
rs924567585
|
|
NM_152384.3(BBS5):c.875C>G (p.Ser292Cys)
|
rs2105303568
|
|
NM_152384.3(BBS5):c.885C>T (p.His295=)
|
rs752240452
|
|
NM_152384.3(BBS5):c.88C>T (p.Leu30Phe)
|
|
|
NM_152384.3(BBS5):c.890A>T (p.Asp297Val)
|
|
|
NM_152384.3(BBS5):c.894T>G (p.Ala298=)
|
|
|
NM_152384.3(BBS5):c.896T>C (p.Phe299Ser)
|
|
|
NM_152384.3(BBS5):c.900+9C>A
|
|
|
NM_152384.3(BBS5):c.901-11T>G
|
|
|
NM_152384.3(BBS5):c.901-6T>C
|
|
|
NM_152384.3(BBS5):c.902C>T (p.Ala301Val)
|
rs2105304210
|
|
NM_152384.3(BBS5):c.906T>C (p.Tyr302=)
|
|
|
NM_152384.3(BBS5):c.913G>T (p.Asp305Tyr)
|
rs1683861388
|
|
NM_152384.3(BBS5):c.918C>A (p.Gly306=)
|
|
|
NM_152384.3(BBS5):c.924+11T>G
|
|
|
NM_152384.3(BBS5):c.924+12T>A
|
|
|
NM_152384.3(BBS5):c.924+16T>G
|
|
|
NM_152384.3(BBS5):c.925-19C>G
|
|
|
NM_152384.3(BBS5):c.925-3A>G
|
rs2105304333
|
|
NM_152384.3(BBS5):c.925-4A>G
|
|
|
NM_152384.3(BBS5):c.925C>T (p.Gln309Ter)
|
rs2105304338
|
|
NM_152384.3(BBS5):c.944_960del (p.Val315fs)
|
|
|
NM_152384.3(BBS5):c.960G>A (p.Leu320=)
|
|
|
NM_152384.3(BBS5):c.963G>A (p.Gly321=)
|
|
|
NM_152384.3(BBS5):c.966T>G (p.Leu322=)
|
rs1683865980
|
|
NM_152384.3(BBS5):c.969A>C (p.Ala323=)
|
|
|
NM_152384.3(BBS5):c.977_978del (p.Lys326fs)
|
rs2105304387
|
|
NM_152384.3(BBS5):c.999A>G (p.Leu333=)
|
|
|
NM_152618.3(BBS12):c.1001A>G (p.Tyr334Cys)
|
rs1800906037
|
|
NM_152618.3(BBS12):c.1002T>C (p.Tyr334=)
|
rs2150736743
|
|
NM_152618.3(BBS12):c.1005C>A (p.Ile335=)
|
|
|
NM_152618.3(BBS12):c.1007C>A (p.Thr336Asn)
|
|
|
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
|
|
|
NM_152618.3(BBS12):c.1009G>A (p.Val337Ile)
|
rs1800906327
|
|
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)
|
rs1553941369
|
|
NM_152618.3(BBS12):c.1014G>A (p.Val338=)
|
|
|
NM_152618.3(BBS12):c.1020A>G (p.Val340=)
|
|
|
NM_152618.3(BBS12):c.1020A>T (p.Val340=)
|
|
|
NM_152618.3(BBS12):c.1026T>C (p.Asn342=)
|
|
|
NM_152618.3(BBS12):c.102ATC[1] (p.Ser36del)
|
rs2150735886
|
|
NM_152618.3(BBS12):c.1030C>G (p.Pro344Ala)
|
|
|
NM_152618.3(BBS12):c.1036A>T (p.Ile346Phe)
|
|
|
NM_152618.3(BBS12):c.1042G>A (p.Glu348Lys)
|
|
|
NM_152618.3(BBS12):c.1045T>C (p.Leu349=)
|
|
|
NM_152618.3(BBS12):c.1047G>A (p.Leu349=)
|
rs1800907366
|
|
NM_152618.3(BBS12):c.1048C>T (p.Gln350Ter)
|
rs1375925950
|
|
NM_152618.3(BBS12):c.1053T>C (p.Asn351=)
|
|
|
NM_152618.3(BBS12):c.1062G>A (p.Val354=)
|
rs34296401
|
|
NM_152618.3(BBS12):c.1069_1097del (p.Val357fs)
|
|
|
NM_152618.3(BBS12):c.107C>T (p.Ser36Phe)
|
|
|
NM_152618.3(BBS12):c.1082_1083insGGGT (p.Asp362fs)
|
rs2150736842
|
|
NM_152618.3(BBS12):c.1082del (p.Gly361fs)
|
rs1057517193
|
|
NM_152618.3(BBS12):c.1083T>A (p.Gly361=)
|
rs2150736847
|
|
NM_152618.3(BBS12):c.1083T>G (p.Gly361=)
|
rs2150736847
|
|
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)
|
rs1800908907
|
|
NM_152618.3(BBS12):c.1088_1089del (p.Leu363fs)
|
rs2150736854
|
|
NM_152618.3(BBS12):c.108C>A (p.Ser36=)
|
|
|
NM_152618.3(BBS12):c.1095G>A (p.Glu365=)
|
rs569907220
|
|
NM_152618.3(BBS12):c.1095G>T (p.Glu365Asp)
|
|
|
NM_152618.3(BBS12):c.1098T>C (p.Asn366=)
|
rs2150736872
|
|
NM_152618.3(BBS12):c.10G>T (p.Ala4Ser)
|
|
|
NM_152618.3(BBS12):c.110A>G (p.Lys37Arg)
|
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
NM_152618.3(BBS12):c.1117_1118insT (p.Asn373fs)
|
|
|
NM_152618.3(BBS12):c.1134T>A (p.Ile378=)
|
|
|
NM_152618.3(BBS12):c.1140A>C (p.Thr380=)
|
|
|
NM_152618.3(BBS12):c.1148A>G (p.Asp383Gly)
|
rs1388311562
|
|
NM_152618.3(BBS12):c.1149del (p.Asp383fs)
|
|
|
NM_152618.3(BBS12):c.1151del (p.Ser384fs)
|
rs1553941404
|
|
NM_152618.3(BBS12):c.1155G>A (p.Met385Ile)
|
rs1800911609
|
|
NM_152618.3(BBS12):c.1166A>G (p.Glu389Gly)
|
rs374270431
|
|
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter)
|
rs747159816
|
|
NM_152618.3(BBS12):c.1185G>T (p.Leu395=)
|
|
|
NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs)
|
|
|
NM_152618.3(BBS12):c.1188G>A (p.Trp396Ter)
|
|
|
NM_152618.3(BBS12):c.1193dup (p.Asn398fs)
|
rs2150736986
|
|
NM_152618.3(BBS12):c.1204C>T (p.Gln402Ter)
|
|
|
NM_152618.3(BBS12):c.1208dup (p.Leu404fs)
|
|
|
NM_152618.3(BBS12):c.1209G>C (p.Val403=)
|
rs17006092
|
|
NM_152618.3(BBS12):c.1213A>C (p.Ile405Leu)
|
|
|
NM_152618.3(BBS12):c.1224G>A (p.Lys408=)
|
|
|
NM_152618.3(BBS12):c.1225G>A (p.Val409Met)
|
rs1578491070
|
|
NM_152618.3(BBS12):c.1227G>C (p.Val409=)
|
rs1800914880
|
|
NM_152618.3(BBS12):c.1233T>C (p.Leu411=)
|
|
|
NM_152618.3(BBS12):c.1239G>A (p.Leu413=)
|
|
|
NM_152618.3(BBS12):c.1246G>T (p.Gly416Ter)
|
|
|
NM_152618.3(BBS12):c.1251T>C (p.Asn417=)
|
|
|
NM_152618.3(BBS12):c.1254G>T (p.Val418=)
|
rs2150737077
|
|
NM_152618.3(BBS12):c.1258G>A (p.Glu420Lys)
|
|
|
NM_152618.3(BBS12):c.1261C>T (p.Arg421Cys)
|
rs199596849
|
|
NM_152618.3(BBS12):c.1264T>C (p.Leu422=)
|
rs2150737086
|
|
NM_152618.3(BBS12):c.1267del (p.Ile423fs)
|
rs1578491135
|
|
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)
|
rs886059058
|
|
NM_152618.3(BBS12):c.1279A>G (p.Ile427Val)
|
|
|
NM_152618.3(BBS12):c.1281A>G (p.Ile427Met)
|
|
|
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)
|
rs766741204
|
|
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp)
|
rs756955366
|
|
NM_152618.3(BBS12):c.129A>G (p.Glu43=)
|
rs2150735912
|
|
NM_152618.3(BBS12):c.12T>C (p.Ala4=)
|
rs1578489401
|
|
NM_152618.3(BBS12):c.1302C>A (p.Ile434=)
|
|
|
NM_152618.3(BBS12):c.1303G>T (p.Gly435Cys)
|
|
|
NM_152618.3(BBS12):c.1305C>T (p.Gly435=)
|
|
|
NM_152618.3(BBS12):c.1310T>C (p.Val437Ala)
|
rs2150737136
|
|
NM_152618.3(BBS12):c.1314T>C (p.Asn438=)
|
|
|
NM_152618.3(BBS12):c.1317C>A (p.Gly439=)
|
|
|
NM_152618.3(BBS12):c.1320T>C (p.Ser440=)
|
rs2150737145
|
|
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)
|
rs1553941433
|
|
NM_152618.3(BBS12):c.1343C>T (p.Ala448Val)
|
|
|
NM_152618.3(BBS12):c.1345G>A (p.Ala449Thr)
|
rs767887679
|
|
NM_152618.3(BBS12):c.1352C>A (p.Ala451Glu)
|
rs2150737180
|
|
NM_152618.3(BBS12):c.1356A>G (p.Val452=)
|
rs1264207326
|
|
NM_152618.3(BBS12):c.135T>C (p.His45=)
|
rs916863378
|
|
NM_152618.3(BBS12):c.1362G>T (p.Val454=)
|
rs1800918797
|
|
NM_152618.3(BBS12):c.1365C>A (p.Ala455=)
|
rs1191099924
|
|
NM_152618.3(BBS12):c.1368C>T (p.Tyr456=)
|
rs2150737194
|
|
NM_152618.3(BBS12):c.1372A>C (p.Thr458Pro)
|
|
|
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)
|
rs1195341481
|
|
NM_152618.3(BBS12):c.1380G>A (p.Val460=)
|
rs13135766
|
|
NM_152618.3(BBS12):c.1382A>G (p.Asn461Ser)
|
rs1800919857
|
|
NM_152618.3(BBS12):c.1386A>G (p.Glu462=)
|
|
|
NM_152618.3(BBS12):c.1389T>C (p.Asp463=)
|
rs1578491378
|
|
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs)
|
rs2150737232
|
|
NM_152618.3(BBS12):c.1393G>T (p.Val465Leu)
|
rs1409837279
|
|
NM_152618.3(BBS12):c.1394_1395del (p.Val465fs)
|
rs2150737232
|
|
NM_152618.3(BBS12):c.1395G>A (p.Val465=)
|
rs2150737249
|
|
NM_152618.3(BBS12):c.1401C>T (p.Asp467=)
|
rs1578491425
|
|
NM_152618.3(BBS12):c.1405G>A (p.Val469Ile)
|
rs756359668
|
|
NM_152618.3(BBS12):c.1407C>G (p.Val469=)
|
rs1800921145
|
|
NM_152618.3(BBS12):c.1407C>T (p.Val469=)
|
|
|
NM_152618.3(BBS12):c.1411G>T (p.Val471Leu)
|
rs140675688
|
|
NM_152618.3(BBS12):c.141T>C (p.Ser47=)
|
|
|
NM_152618.3(BBS12):c.1428C>T (p.Ser476=)
|
|
|
NM_152618.3(BBS12):c.143T>C (p.Val48Ala)
|
rs1800881705
|
|
NM_152618.3(BBS12):c.1446A>G (p.Val482=)
|
|
|
NM_152618.3(BBS12):c.1449T>C (p.Asp483=)
|
rs2150737320
|
|
NM_152618.3(BBS12):c.1455del (p.Asn485fs)
|
rs2150737331
|
|
NM_152618.3(BBS12):c.1459A>C (p.Arg487=)
|
rs772894742
|
|
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly)
|
rs772894742
|
|
NM_152618.3(BBS12):c.1461A>G (p.Arg487=)
|
|
|
NM_152618.3(BBS12):c.1463_1464del (p.Ile488fs)
|
rs2150737344
|
|
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)
|
rs145489987
|
|
NM_152618.3(BBS12):c.1466C>G (p.Ala489Gly)
|
rs2150737356
|
|
NM_152618.3(BBS12):c.1467A>C (p.Ala489=)
|
|
|
NM_152618.3(BBS12):c.1476A>G (p.Leu492=)
|
|
|
NM_152618.3(BBS12):c.147A>G (p.Leu49=)
|
|
|
NM_152618.3(BBS12):c.1482A>C (p.Thr494=)
|
|
|
NM_152618.3(BBS12):c.1482A>G (p.Thr494=)
|
rs1460811850
|
|
NM_152618.3(BBS12):c.1482A>T (p.Thr494=)
|
|
|
NM_152618.3(BBS12):c.1486G>A (p.Gly496Arg)
|
|
|
NM_152618.3(BBS12):c.1487G>C (p.Gly496Ala)
|
|
|
NM_152618.3(BBS12):c.1500T>C (p.Val500=)
|
|
|
NM_152618.3(BBS12):c.1503G>A (p.Thr501=)
|
|
|
NM_152618.3(BBS12):c.150C>T (p.Ile50=)
|
|
|
NM_152618.3(BBS12):c.1513A>G (p.Thr505Ala)
|
|
|
NM_152618.3(BBS12):c.1515_1518del (p.Asn506fs)
|
|
|
NM_152618.3(BBS12):c.1518C>T (p.Asn506=)
|
rs2292494
|
|
NM_152618.3(BBS12):c.1524T>G (p.Val508=)
|
|
|
NM_152618.3(BBS12):c.1527T>C (p.Thr509=)
|
|
|
NM_152618.3(BBS12):c.1528G>A (p.Ala510Thr)
|
|
|
NM_152618.3(BBS12):c.1530A>T (p.Ala510=)
|
rs1261261490
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152618.3(BBS12):c.1542C>A (p.Ile514=)
|
|
|
NM_152618.3(BBS12):c.1548A>G (p.Glu516=)
|
rs2150737441
|
|
NM_152618.3(BBS12):c.1549G>A (p.Asp517Asn)
|
rs2150737447
|
|
NM_152618.3(BBS12):c.1554del (p.Arg518fs)
|
|
|
NM_152618.3(BBS12):c.1559G>A (p.Trp520Ter)
|
|
|
NM_152618.3(BBS12):c.1563A>G (p.Thr521=)
|
|
|
NM_152618.3(BBS12):c.1569C>G (p.Ala523=)
|
|
|
NM_152618.3(BBS12):c.1569C>T (p.Ala523=)
|
rs1800926454
|
|
NM_152618.3(BBS12):c.1573C>A (p.Arg525Ser)
|
rs760420127
|
|
NM_152618.3(BBS12):c.1577dup (p.Leu526fs)
|
rs1800926856
|
|
NM_152618.3(BBS12):c.1584T>C (p.Tyr528=)
|
rs1200669244
|
|
NM_152618.3(BBS12):c.1587T>C (p.Ala529=)
|
rs2150737498
|
|
NM_152618.3(BBS12):c.1588C>T (p.Leu530=)
|
rs774541720
|
|
NM_152618.3(BBS12):c.158C>T (p.Thr53Ile)
|
|
|
NM_152618.3(BBS12):c.1596G>A (p.Glu532=)
|
rs1477880509
|
|
NM_152618.3(BBS12):c.1596G>C (p.Glu532Asp)
|
rs1477880509
|
|
NM_152618.3(BBS12):c.1604T>C (p.Val535Ala)
|
|
|
NM_152618.3(BBS12):c.1605C>A (p.Val535=)
|
|
|
NM_152618.3(BBS12):c.1605C>G (p.Val535=)
|
|
|
NM_152618.3(BBS12):c.1606T>C (p.Phe536Leu)
|
|
|
NM_152618.3(BBS12):c.1611T>C (p.Leu537=)
|
rs536542331
|
|
NM_152618.3(BBS12):c.1614A>G (p.Gly538=)
|
|
|
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)
|
rs755314355
|
|
NM_152618.3(BBS12):c.1616del (p.Gly539fs)
|
|
|
NM_152618.3(BBS12):c.1617T>G (p.Gly539=)
|
rs1332032760
|
|
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val)
|
rs1010403072
|
|
NM_152618.3(BBS12):c.1620T>A (p.Gly540=)
|
rs1335150440
|
|
NM_152618.3(BBS12):c.1626del (p.Glu543fs)
|
|
|
NM_152618.3(BBS12):c.1627G>A (p.Glu543Lys)
|
rs1800928868
|
|
NM_152618.3(BBS12):c.1635G>A (p.Leu545=)
|
rs1800929032
|
|
NM_152618.3(BBS12):c.1638T>C (p.Cys546=)
|
rs2150737570
|
|
NM_152618.3(BBS12):c.163A>C (p.Arg55=)
|
rs765761292
|
|
NM_152618.3(BBS12):c.1652A>T (p.His551Leu)
|
rs1174030927
|
|
NM_152618.3(BBS12):c.1653T>C (p.His551=)
|
rs1800929267
|
|
NM_152618.3(BBS12):c.1653T>G (p.His551Gln)
|
rs1800929267
|
|
NM_152618.3(BBS12):c.1658T>C (p.Leu553Pro)
|
|
|
NM_152618.3(BBS12):c.165G>A (p.Arg55=)
|
rs1160982211
|
|
NM_152618.3(BBS12):c.165G>C (p.Arg55Ser)
|
|
|
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)
|
rs2150737598
|
|
NM_152618.3(BBS12):c.1668A>G (p.Gln556=)
|
rs2150737604
|
|
NM_152618.3(BBS12):c.1671T>G (p.Ser557=)
|
|
|
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
|
|
|
NM_152618.3(BBS12):c.1673T>A (p.Leu558Gln)
|
rs2150737612
|
|
NM_152618.3(BBS12):c.1673del (p.Leu558fs)
|
|
|
NM_152618.3(BBS12):c.1681_1683del (p.Glu561del)
|
rs1490785954
|
|
NM_152618.3(BBS12):c.1687C>G (p.His563Asp)
|
|
|
NM_152618.3(BBS12):c.168del (p.Glu58fs)
|
|
|
NM_152618.3(BBS12):c.1695C>T (p.Cys565=)
|
|
|
NM_152618.3(BBS12):c.1696T>C (p.Ser566Pro)
|
|
|
NM_152618.3(BBS12):c.1698A>C (p.Ser566=)
|
rs746904755
|
|
NM_152618.3(BBS12):c.1698A>G (p.Ser566=)
|
rs746904755
|
|
NM_152618.3(BBS12):c.1698A>T (p.Ser566=)
|
rs746904755
|
|
NM_152618.3(BBS12):c.16A>C (p.Arg6=)
|
|
|
NM_152618.3(BBS12):c.1702T>C (p.Trp568Arg)
|
|
|
NM_152618.3(BBS12):c.1705del (p.Leu569fs)
|
rs2150737655
|
|
NM_152618.3(BBS12):c.1709A>C (p.His570Pro)
|
|
|
NM_152618.3(BBS12):c.1716T>C (p.Thr572=)
|
rs1578491962
|
|
NM_152618.3(BBS12):c.1719del (p.Ser574fs)
|
|
|
NM_152618.3(BBS12):c.1724G>A (p.Trp575Ter)
|
rs2150737680
|
|
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)
|
rs759455327
|
|
NM_152618.3(BBS12):c.1731T>C (p.Ala577=)
|
|
|
NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter)
|
rs1800931751
|
|
NM_152618.3(BBS12):c.1742C>T (p.Ala581Val)
|
rs2150737702
|
|
NM_152618.3(BBS12):c.1756A>G (p.Thr586Ala)
|
|
|
NM_152618.3(BBS12):c.1756del (p.Thr586fs)
|
|
|
NM_152618.3(BBS12):c.1761G>C (p.Val587=)
|
rs2150737711
|
|
NM_152618.3(BBS12):c.1764T>A (p.Leu588=)
|
|
|
NM_152618.3(BBS12):c.1764T>C (p.Leu588=)
|
rs2150737718
|
|
NM_152618.3(BBS12):c.1773G>A (p.Leu591=)
|
|
|
NM_152618.3(BBS12):c.1779T>C (p.Asn593=)
|
|
|
NM_152618.3(BBS12):c.1793A>G (p.Tyr598Cys)
|
|
|
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
|
|
|
NM_152618.3(BBS12):c.1811A>G (p.Tyr604Cys)
|
|
|
NM_152618.3(BBS12):c.1812T>C (p.Tyr604=)
|
rs1560708733
|
|
NM_152618.3(BBS12):c.1813_1814del (p.Asn605fs)
|
rs764074545
|
|
NM_152618.3(BBS12):c.1815C>T (p.Asn605=)
|
rs779671886
|
|
NM_152618.3(BBS12):c.1816_1817del (p.Thr606fs)
|
|
|
NM_152618.3(BBS12):c.1817C>G (p.Thr606Ser)
|
|
|
NM_152618.3(BBS12):c.1827C>G (p.Tyr609Ter)
|
rs1800933874
|
|
NM_152618.3(BBS12):c.1830A>C (p.Ser610=)
|
rs528535207
|
|
NM_152618.3(BBS12):c.1840G>C (p.Glu614Gln)
|
rs1800934088
|
|
NM_152618.3(BBS12):c.1844C>A (p.Ala615Asp)
|
rs17857451
|
|
NM_152618.3(BBS12):c.1851A>G (p.Thr617=)
|
|
|
NM_152618.3(BBS12):c.1853A>G (p.Tyr618Cys)
|
|
|
NM_152618.3(BBS12):c.1855A>G (p.Ile619Val)
|
|
|
NM_152618.3(BBS12):c.1857T>C (p.Ile619=)
|
|
|
NM_152618.3(BBS12):c.1861C>T (p.His621Tyr)
|
rs1800935119
|
|
NM_152618.3(BBS12):c.1864C>G (p.His622Asp)
|
|
|
NM_152618.3(BBS12):c.1878C>A (p.Ala626=)
|
rs1800935621
|
|
NM_152618.3(BBS12):c.1887T>C (p.Ser629=)
|
|
|
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)
|
rs1560708847
|
|
NM_152618.3(BBS12):c.1899A>T (p.Ser633=)
|
rs892531107
|
|
NM_152618.3(BBS12):c.189C>T (p.Thr63=)
|
rs2150735963
|
|
NM_152618.3(BBS12):c.189del (p.Ser64fs)
|
rs2150735961
|
|
NM_152618.3(BBS12):c.1902T>C (p.Ser634=)
|
rs2150737878
|
|
NM_152618.3(BBS12):c.1905C>T (p.Tyr635=)
|
|
|
NM_152618.3(BBS12):c.1917A>G (p.Glu639=)
|
rs2150737890
|
|
NM_152618.3(BBS12):c.1920_1921del (p.Tyr640_Ser641delinsTer)
|
|
|
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del)
|
rs758008862
|
|
NM_152618.3(BBS12):c.1935T>C (p.Ser645=)
|
|
|
NM_152618.3(BBS12):c.1936A>G (p.Arg646Gly)
|
|
|
NM_152618.3(BBS12):c.1945A>T (p.Asn649Tyr)
|
rs2150737920
|
|
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)
|
rs1553941580
|
|
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer)
|
rs1444062882
|
|
NM_152618.3(BBS12):c.1950A>G (p.Ser650=)
|
|
|
NM_152618.3(BBS12):c.1951G>A (p.Asp651Asn)
|
|
|
NM_152618.3(BBS12):c.1965A>G (p.Lys655=)
|
rs1223815928
|
|
NM_152618.3(BBS12):c.1966C>A (p.Leu656Met)
|
rs1800940804
|
|
NM_152618.3(BBS12):c.1966C>T (p.Leu656=)
|
|
|
NM_152618.3(BBS12):c.1970A>C (p.Glu657Ala)
|
rs1800940912
|
|
NM_152618.3(BBS12):c.1980G>T (p.Pro660=)
|
rs778953866
|
|
NM_152618.3(BBS12):c.1989T>C (p.Tyr663=)
|
rs2150737974
|
|
NM_152618.3(BBS12):c.1992C>T (p.Asp664=)
|
rs1553941594
|
|
NM_152618.3(BBS12):c.1993G>A (p.Val665Ile)
|
|
|
NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)
|
|
|
NM_152618.3(BBS12):c.19G>A (p.Val7Ile)
|
rs1464814059
|
|
NM_152618.3(BBS12):c.2004A>C (p.Pro668=)
|
|
|
NM_152618.3(BBS12):c.2004A>G (p.Pro668=)
|
rs2150738003
|
|
NM_152618.3(BBS12):c.2007G>A (p.Lys669=)
|
|
|
NM_152618.3(BBS12):c.2010T>A (p.Ile670=)
|
|
|
NM_152618.3(BBS12):c.2013G>A (p.Glu671=)
|
rs777175466
|
|
NM_152618.3(BBS12):c.2019G>T (p.Trp673Cys)
|
|
|
NM_152618.3(BBS12):c.201A>T (p.Gly67=)
|
|
|
NM_152618.3(BBS12):c.2022C>T (p.Arg674=)
|
rs2150738042
|
|
NM_152618.3(BBS12):c.2028A>G (p.Ala676=)
|
|
|
NM_152618.3(BBS12):c.2029T>C (p.Leu677=)
|
rs1578492416
|
|
NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)
|
|
|
NM_152618.3(BBS12):c.2036del (p.Asp678_Leu679insTer)
|
|
|
NM_152618.3(BBS12):c.2037A>C (p.Leu679Phe)
|
rs1553941612
|
|
NM_152618.3(BBS12):c.2037A>G (p.Leu679=)
|
rs1553941612
|
|
NM_152618.3(BBS12):c.2037A>T (p.Leu679Phe)
|
rs1553941612
|
|
NM_152618.3(BBS12):c.2038_2039delinsAA (p.Val680Lys)
|
|
|
NM_152618.3(BBS12):c.2043_2052del (p.Leu681fs)
|
|
|
NM_152618.3(BBS12):c.2044T>C (p.Leu682=)
|
|
|
NM_152618.3(BBS12):c.2045T>C (p.Leu682Ser)
|
rs2150738089
|
|
NM_152618.3(BBS12):c.2046A>G (p.Leu682=)
|
rs2150738093
|
|
NM_152618.3(BBS12):c.2049A>G (p.Val683=)
|
rs2150738097
|
|
NM_152618.3(BBS12):c.204A>G (p.Gln68=)
|
rs2150735975
|
|
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter)
|
rs746020725
|
|
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs)
|
rs746478265
|
|
NM_152618.3(BBS12):c.2061C>T (p.Asp687=)
|
|
|
NM_152618.3(BBS12):c.2062A>G (p.Ser688Gly)
|
rs1337705311
|
|
NM_152618.3(BBS12):c.2079A>G (p.Gly693=)
|
rs1166099987
|
|
NM_152618.3(BBS12):c.2082T>C (p.His694=)
|
|
|
NM_152618.3(BBS12):c.2092_2093del (p.Gln698fs)
|
|
|
NM_152618.3(BBS12):c.2096T>A (p.Ile699Lys)
|
rs762266326
|
|
NM_152618.3(BBS12):c.2097A>C (p.Ile699=)
|
|
|
NM_152618.3(BBS12):c.2099A>G (p.Asn700Ser)
|
rs1800945725
|
|
NM_152618.3(BBS12):c.2099del (p.Asn700fs)
|
|
|
NM_152618.3(BBS12):c.2115G>A (p.Thr705=)
|
|
|
NM_152618.3(BBS12):c.2117G>A (p.Gly706Asp)
|
rs759180956
|
|
NM_152618.3(BBS12):c.2126T>G (p.Phe709Cys)
|
|
|
NM_152618.3(BBS12):c.21C>A (p.Val7=)
|
rs754702110
|
|
NM_152618.3(BBS12):c.222T>G (p.Val74=)
|
rs778792181
|
|
NM_152618.3(BBS12):c.227C>T (p.Ala76Val)
|
|
|
NM_152618.3(BBS12):c.228A>G (p.Ala76=)
|
|
|
NM_152618.3(BBS12):c.22G>A (p.Val8Ile)
|
|
|
NM_152618.3(BBS12):c.231A>G (p.Gln77=)
|
rs1232888793
|
|
NM_152618.3(BBS12):c.234C>T (p.Asn78=)
|
rs2150736009
|
|
NM_152618.3(BBS12):c.240A>G (p.Thr80=)
|
|
|
NM_152618.3(BBS12):c.241T>C (p.Tyr81His)
|
|
|
NM_152618.3(BBS12):c.249T>C (p.Thr83=)
|
rs2150736023
|
|
NM_152618.3(BBS12):c.259A>G (p.Thr87Ala)
|
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_152618.3(BBS12):c.270T>C (p.Phe90=)
|
|
|
NM_152618.3(BBS12):c.270del (p.Val92fs)
|
rs1173504533
|
|
NM_152618.3(BBS12):c.274G>A (p.Val92Ile)
|
rs973844350
|
|
NM_152618.3(BBS12):c.277G>A (p.Gly93Ser)
|
|
|
NM_152618.3(BBS12):c.27_30del (p.Asn9fs)
|
rs2150735761
|
|
NM_152618.3(BBS12):c.291T>C (p.Ser97=)
|
rs2150736048
|
|
NM_152618.3(BBS12):c.294A>G (p.Ala98=)
|
|
|
NM_152618.3(BBS12):c.298GAA[1] (p.Glu101del)
|
rs1553941223
|
|
NM_152618.3(BBS12):c.29A>G (p.Lys10Arg)
|
|
|
NM_152618.3(BBS12):c.2T>C (p.Met1Thr)
|
rs1553941150
|
|
NM_152618.3(BBS12):c.310C>T (p.His104Tyr)
|
rs1472737770
|
|
NM_152618.3(BBS12):c.313C>T (p.Leu105Phe)
|
|
|
NM_152618.3(BBS12):c.317G>T (p.Gly106Val)
|
|
|
NM_152618.3(BBS12):c.318T>C (p.Gly106=)
|
rs1578489832
|
|
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del)
|
rs752885483
|
|
NM_152618.3(BBS12):c.336A>G (p.Ile112Met)
|
|
|
NM_152618.3(BBS12):c.347T>A (p.Met116Lys)
|
|
|
NM_152618.3(BBS12):c.351A>G (p.Ser117=)
|
|
|
NM_152618.3(BBS12):c.356G>A (p.Gly119Asp)
|
rs2150736114
|
|
NM_152618.3(BBS12):c.366T>C (p.Phe122=)
|
rs907426686
|
|
NM_152618.3(BBS12):c.368G>A (p.Cys123Tyr)
|
|
|
NM_152618.3(BBS12):c.381A>G (p.Val127=)
|
|
|
NM_152618.3(BBS12):c.388C>A (p.Leu130Ile)
|
|
|
NM_152618.3(BBS12):c.396A>C (p.Val132=)
|
|
|
NM_152618.3(BBS12):c.396A>G (p.Val132=)
|
|
|
NM_152618.3(BBS12):c.398del (p.Pro133fs)
|
rs750185673
|
|
NM_152618.3(BBS12):c.400G>T (p.Val134Phe)
|
rs1467415217
|
|
NM_152618.3(BBS12):c.420_423del (p.Cys140fs)
|
|
|
NM_152618.3(BBS12):c.422dup (p.Met141fs)
|
rs1800890010
|
|
NM_152618.3(BBS12):c.424dup (p.Asp142fs)
|
rs1553941258
|
|
NM_152618.3(BBS12):c.427del (p.Ser143fs)
|
|
|
NM_152618.3(BBS12):c.428_429delinsAT (p.Ser143Asn)
|
|
|
NM_152618.3(BBS12):c.42G>A (p.Met14Ile)
|
|
|
NM_152618.3(BBS12):c.433A>G (p.Lys145Glu)
|
rs1800890314
|
|
NM_152618.3(BBS12):c.436A>T (p.Thr146Ser)
|
rs1800890438
|
|
NM_152618.3(BBS12):c.437C>T (p.Thr146Ile)
|
rs2150736213
|
|
NM_152618.3(BBS12):c.450T>G (p.Leu150=)
|
rs2150736218
|
|
NM_152618.3(BBS12):c.469_470del (p.Leu157fs)
|
rs2150736228
|
|
NM_152618.3(BBS12):c.476del (p.Pro159fs)
|
|
|
NM_152618.3(BBS12):c.489C>G (p.Val163=)
|
|
|
NM_152618.3(BBS12):c.49dup (p.Gln17fs)
|
rs756061536
|
|
NM_152618.3(BBS12):c.501T>C (p.Thr167=)
|
rs771669469
|
|
NM_152618.3(BBS12):c.507G>A (p.Leu169=)
|
|
|
NM_152618.3(BBS12):c.513G>A (p.Glu171=)
|
|
|
NM_152618.3(BBS12):c.516A>G (p.Glu172=)
|
|
|
NM_152618.3(BBS12):c.517T>C (p.Leu173=)
|
rs2150736262
|
|
NM_152618.3(BBS12):c.521A>G (p.His174Arg)
|
|
|
NM_152618.3(BBS12):c.522T>C (p.His174=)
|
|
|
NM_152618.3(BBS12):c.523G>T (p.Gly175Cys)
|
|
|
NM_152618.3(BBS12):c.525T>C (p.Gly175=)
|
rs2150736282
|
|
NM_152618.3(BBS12):c.547A>C (p.Thr183Pro)
|
|
|
NM_152618.3(BBS12):c.54A>G (p.Gln18=)
|
|
|
NM_152618.3(BBS12):c.550C>T (p.Leu184=)
|
rs1800894066
|
|
NM_152618.3(BBS12):c.552G>A (p.Leu184=)
|
|
|
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.572_576del (p.Gly191fs)
|
|
|
NM_152618.3(BBS12):c.576A>G (p.Arg192=)
|
|
|
NM_152618.3(BBS12):c.577C>A (p.Pro193Thr)
|
rs1246383248
|
|
NM_152618.3(BBS12):c.579T>C (p.Pro193=)
|
rs1354832386
|
|
NM_152618.3(BBS12):c.57T>G (p.Leu19=)
|
rs2150735813
|
|
NM_152618.3(BBS12):c.580C>A (p.Leu194Ile)
|
rs200300023
|
|
NM_152618.3(BBS12):c.588A>T (p.Ser196=)
|
rs1214671198
|
|
NM_152618.3(BBS12):c.58del (p.Ser20fs)
|
rs2150735809
|
|
NM_152618.3(BBS12):c.590_591del (p.Ser196_Tyr197insTer)
|
rs1560706958
|
|
NM_152618.3(BBS12):c.626A>G (p.Asp209Gly)
|
rs1472424724
|
|
NM_152618.3(BBS12):c.642A>T (p.Arg214=)
|
rs1297157123
|
|
NM_152618.3(BBS12):c.648G>A (p.Leu216=)
|
|
|
NM_152618.3(BBS12):c.655_658del (p.Ser219fs)
|
|
|
NM_152618.3(BBS12):c.660G>C (p.Leu220=)
|
rs768514500
|
|
NM_152618.3(BBS12):c.663T>G (p.Leu221=)
|
rs2150736396
|
|
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly)
|
rs1060501473
|
|
NM_152618.3(BBS12):c.670dup (p.Thr224fs)
|
rs1339432710
|
|
NM_152618.3(BBS12):c.672C>A (p.Thr224=)
|
|
|
NM_152618.3(BBS12):c.681A>G (p.Arg227=)
|
rs2150736417
|
|
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)
|
rs769588983
|
|
NM_152618.3(BBS12):c.694dup (p.Ile232fs)
|
rs2150736431
|
|
NM_152618.3(BBS12):c.706C>T (p.His236Tyr)
|
|
|
NM_152618.3(BBS12):c.708T>C (p.His236=)
|
|
|
NM_152618.3(BBS12):c.709T>C (p.Phe237Leu)
|
|
|
NM_152618.3(BBS12):c.714T>C (p.Asn238=)
|
|
|
NM_152618.3(BBS12):c.715A>C (p.Arg239=)
|
rs1800898589
|
|
NM_152618.3(BBS12):c.719C>T (p.Thr240Ile)
|
rs140537219
|
|
NM_152618.3(BBS12):c.720A>G (p.Thr240=)
|
|
|
NM_152618.3(BBS12):c.724A>G (p.Asn242Asp)
|
rs2150736461
|
|
NM_152618.3(BBS12):c.725A>G (p.Asn242Ser)
|
rs2150736463
|
|
NM_152618.3(BBS12):c.729T>C (p.Thr243=)
|
|
|
NM_152618.3(BBS12):c.72A>G (p.Glu24=)
|
rs2150735852
|
|
NM_152618.3(BBS12):c.73A>G (p.Thr25Ala)
|
rs2150735856
|
|
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala)
|
rs758191621
|
|
NM_152618.3(BBS12):c.745C>T (p.Pro249Ser)
|
rs758191621
|
|
NM_152618.3(BBS12):c.753A>G (p.Gly251=)
|
rs2150736488
|
|
NM_152618.3(BBS12):c.756T>C (p.Phe252=)
|
|
|
NM_152618.3(BBS12):c.758A>C (p.Gln253Pro)
|
|
|
NM_152618.3(BBS12):c.758A>G (p.Gln253Arg)
|
|
|
NM_152618.3(BBS12):c.75A>C (p.Thr25=)
|
rs754811440
|
|
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)
|
rs1553941304
|
|
NM_152618.3(BBS12):c.763C>G (p.His255Asp)
|
rs2150736491
|
|
NM_152618.3(BBS12):c.76G>A (p.Gly26Arg)
|
|
|
NM_152618.3(BBS12):c.771A>T (p.Thr257=)
|
|
|
NM_152618.3(BBS12):c.774T>G (p.Ala258=)
|
|
|
NM_152618.3(BBS12):c.780C>T (p.His260=)
|
|
|
NM_152618.3(BBS12):c.780_781del (p.His260fs)
|
rs865920726
|
|
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)
|
rs974173261
|
|
NM_152618.3(BBS12):c.798T>C (p.Asn266=)
|
|
|
NM_152618.3(BBS12):c.805G>A (p.Val269Ile)
|
rs2150736540
|
|
NM_152618.3(BBS12):c.80del (p.Arg27fs)
|
|
|
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp)
|
rs774510452
|
|
NM_152618.3(BBS12):c.840C>T (p.His280=)
|
rs2150736581
|
|
NM_152618.3(BBS12):c.847A>G (p.Met283Val)
|
rs1173472896
|
|
NM_152618.3(BBS12):c.852G>A (p.Lys284=)
|
|
|
NM_152618.3(BBS12):c.854TAG[1] (p.Val286del)
|
|
|
NM_152618.3(BBS12):c.855A>G (p.Leu285=)
|
|
|
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)
|
rs745504524
|
|
NM_152618.3(BBS12):c.863A>C (p.Glu288Ala)
|
|
|
NM_152618.3(BBS12):c.867_874del (p.Val290fs)
|
rs2150736605
|
|
NM_152618.3(BBS12):c.869_873del (p.Val290fs)
|
rs1283655166
|
|
NM_152618.3(BBS12):c.874C>T (p.Leu292=)
|
|
|
NM_152618.3(BBS12):c.87C>T (p.Phe29=)
|
rs2150735866
|
|
NM_152618.3(BBS12):c.880T>G (p.Tyr294Asp)
|
|
|
NM_152618.3(BBS12):c.890_893del (p.Ala297fs)
|
rs2150736616
|
|
NM_152618.3(BBS12):c.891T>C (p.Ala297=)
|
rs2150736617
|
|
NM_152618.3(BBS12):c.896T>A (p.Val299Glu)
|
|
|
NM_152618.3(BBS12):c.900A>G (p.Gln300=)
|
|
|
NM_152618.3(BBS12):c.906C>A (p.Gly302=)
|
rs557013132
|
|
NM_152618.3(BBS12):c.906C>T (p.Gly302=)
|
rs557013132
|
|
NM_152618.3(BBS12):c.911G>A (p.Cys304Tyr)
|
|
|
NM_152618.3(BBS12):c.911G>C (p.Cys304Ser)
|
|
|
NM_152618.3(BBS12):c.911_912del (p.Cys304fs)
|
rs2150736648
|
|
NM_152618.3(BBS12):c.925_926del (p.Met309fs)
|
rs1800904262
|
|
NM_152618.3(BBS12):c.940A>G (p.Arg314Gly)
|
rs749107412
|
|
NM_152618.3(BBS12):c.948C>T (p.Phe316=)
|
|
|
NM_152618.3(BBS12):c.951T>C (p.Thr317=)
|
|
|
NM_152618.3(BBS12):c.960A>G (p.Leu320=)
|
|
|
NM_152618.3(BBS12):c.961C>G (p.Pro321Ala)
|
rs2150736703
|
|
NM_152618.3(BBS12):c.96A>G (p.Pro32=)
|
|
|
NM_152618.3(BBS12):c.975A>G (p.Glu325=)
|
rs2150736709
|
|
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)
|
rs779801356
|
|
NM_152618.3(BBS12):c.978T>G (p.Thr326=)
|
|
|
NM_152618.3(BBS12):c.978_979inv (p.Ser327Thr)
|
|
|
NM_152618.3(BBS12):c.97C>A (p.Leu33Ile)
|
|
|
NM_152618.3(BBS12):c.97C>T (p.Leu33=)
|
rs1011665825
|
|
NM_152618.3(BBS12):c.981T>G (p.Ser327=)
|
rs2150736715
|
|
NM_152618.3(BBS12):c.990T>C (p.Val330=)
|
|
|
NM_152618.3(BBS12):c.994C>G (p.Pro332Ala)
|
|
|
NM_152618.3(BBS12):c.999A>T (p.Gly333=)
|
|
|
NM_152618.3(BBS12):c.99A>G (p.Leu33=)
|
rs770875217
|
|
NM_176824.3(BBS7):c.1002del (p.Asn335fs)
|
rs762782183
|
|
NM_176824.3(BBS7):c.102+16T>A
|
|
|
NM_176824.3(BBS7):c.102+1G>T
|
|
|
NM_176824.3(BBS7):c.102+8A>T
|
|
|
NM_176824.3(BBS7):c.1024A>G (p.Ile342Val)
|
rs1726067128
|
|
NM_176824.3(BBS7):c.103-10T>C
|
|
|
NM_176824.3(BBS7):c.103-268_112del
|
|
|
NM_176824.3(BBS7):c.103-4A>C
|
rs374281147
|
|
NM_176824.3(BBS7):c.103-8T>C
|
|
|
NM_176824.3(BBS7):c.1037+19T>C
|
|
|
NM_176824.3(BBS7):c.1037+19T>G
|
|
|
NM_176824.3(BBS7):c.1037+20T>G
|
|
|
NM_176824.3(BBS7):c.1037+5C>T
|
rs749266895
|
|
NM_176824.3(BBS7):c.1037+9_1037+14del
|
|
|
NM_176824.3(BBS7):c.1038-5T>G
|
|
|
NM_176824.3(BBS7):c.1038-7T>C
|
|
|
NM_176824.3(BBS7):c.1038G>A (p.Arg346=)
|
rs989502021
|
|
NM_176824.3(BBS7):c.1042G>T (p.Glu348Ter)
|
|
|
NM_176824.3(BBS7):c.1047G>A (p.Leu349=)
|
|
|
NM_176824.3(BBS7):c.1052A>G (p.His351Arg)
|
|
|
NM_176824.3(BBS7):c.1052A>T (p.His351Leu)
|
rs940315256
|
|
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)
|
rs773139166
|
|
NM_176824.3(BBS7):c.1083G>A (p.Glu361=)
|
|
|
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs)
|
rs577434138
|
|
NM_176824.3(BBS7):c.1087T>C (p.Tyr363His)
|
rs2149068941
|
|
NM_176824.3(BBS7):c.1093_1094del (p.Gln365fs)
|
rs2149068932
|
|
NM_176824.3(BBS7):c.1100C>T (p.Ser367Phe)
|
|
|
NM_176824.3(BBS7):c.1104A>G (p.Gln368=)
|
|
|
NM_176824.3(BBS7):c.1116A>G (p.Ala372=)
|
rs2149068875
|
|
NM_176824.3(BBS7):c.1119A>G (p.Lys373=)
|
|
|
NM_176824.3(BBS7):c.114A>C (p.Gly38=)
|
|
|
NM_176824.3(BBS7):c.1158A>C (p.Thr386=)
|
|
|
NM_176824.3(BBS7):c.1158A>T (p.Thr386=)
|
rs146617227
|
|
NM_176824.3(BBS7):c.1160T>C (p.Leu387Pro)
|
rs2149068760
|
|
NM_176824.3(BBS7):c.1198G>A (p.Val400Ile)
|
|
|
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr)
|
rs542274936
|
|
NM_176824.3(BBS7):c.1207G>A (p.Ala403Thr)
|
rs761858167
|
|
NM_176824.3(BBS7):c.1214A>G (p.Asp405Gly)
|
|
|
NM_176824.3(BBS7):c.1221C>A (p.Val407=)
|
|
|
NM_176824.3(BBS7):c.1221C>G (p.Val407=)
|
rs760247807
|
|
NM_176824.3(BBS7):c.1231-11A>G
|
|
|
NM_176824.3(BBS7):c.1231-15del
|
|
|
NM_176824.3(BBS7):c.1231-15dup
|
rs747444432
|
|
NM_176824.3(BBS7):c.1231-3T>C
|
rs1725872645
|
|
NM_176824.3(BBS7):c.1231-4A>C
|
|
|
NM_176824.3(BBS7):c.1231-4A>G
|
|
|
NM_176824.3(BBS7):c.1231-4A>T
|
|
|
NM_176824.3(BBS7):c.1237G>A (p.Val413Ile)
|
rs2149066894
|
|
NM_176824.3(BBS7):c.1243A>C (p.Ile415Leu)
|
rs1299054607
|
|
NM_176824.3(BBS7):c.1250del (p.Leu417fs)
|
rs2149066862
|
|
NM_176824.3(BBS7):c.1257T>C (p.Asp419=)
|
|
|
NM_176824.3(BBS7):c.1263T>C (p.Asp421=)
|
|
|
NM_176824.3(BBS7):c.127G>A (p.Val43Ile)
|
|
|
NM_176824.3(BBS7):c.1284C>T (p.Ser428=)
|
|
|
NM_176824.3(BBS7):c.1287T>C (p.Phe429=)
|
|
|
NM_176824.3(BBS7):c.1289G>A (p.Ser430Asn)
|
rs1410107664
|
|
NM_176824.3(BBS7):c.1302T>C (p.Ser434=)
|
|
|
NM_176824.3(BBS7):c.1305+15A>G
|
|
|
NM_176824.3(BBS7):c.1305+17_1305+21del
|
rs2149066719
|
|
NM_176824.3(BBS7):c.1305+19G>T
|
|
|
NM_176824.3(BBS7):c.1305+1G>A
|
|
|
NM_176824.3(BBS7):c.1305+2T>A
|
|
|
NM_176824.3(BBS7):c.1305+7A>G
|
|
|
NM_176824.3(BBS7):c.1306-13G>A
|
|
|
NM_176824.3(BBS7):c.1306-18A>G
|
|
|
NM_176824.3(BBS7):c.1306-1_1308del
|
|
|
NM_176824.3(BBS7):c.1306-4C>A
|
|
|
NM_176824.3(BBS7):c.1312G>A (p.Asp438Asn)
|
|
|
NM_176824.3(BBS7):c.1327G>A (p.Ala443Thr)
|
|
|
NM_176824.3(BBS7):c.1334A>C (p.Tyr445Ser)
|
|
|
NM_176824.3(BBS7):c.1334A>T (p.Tyr445Phe)
|
rs776931328
|
|
NM_176824.3(BBS7):c.133dup (p.Met45fs)
|
|
|
NM_176824.3(BBS7):c.1340G>T (p.Cys447Phe)
|
rs2149061880
|
|
NM_176824.3(BBS7):c.1356A>G (p.Thr452=)
|
|
|
NM_176824.3(BBS7):c.1360C>T (p.Leu454=)
|
|
|
NM_176824.3(BBS7):c.136T>G (p.Cys46Gly)
|
|
|
NM_176824.3(BBS7):c.1371+11T>G
|
|
|
NM_176824.3(BBS7):c.1371+13G>T
|
|
|
NM_176824.3(BBS7):c.1371+1G>A
|
rs1578537379
|
|
NM_176824.3(BBS7):c.1371+8T>A
|
rs2149061801
|
|
NM_176824.3(BBS7):c.1372-10G>A
|
|
|
NM_176824.3(BBS7):c.1372-11T>C
|
|
|
NM_176824.3(BBS7):c.1372-12G>A
|
|
|
NM_176824.3(BBS7):c.1372-13dup
|
|
|
NM_176824.3(BBS7):c.1372-19C>G
|
rs1725398365
|
|
NM_176824.3(BBS7):c.1372-20C>T
|
|
|
NM_176824.3(BBS7):c.1375C>A (p.Arg459Ser)
|
rs150743868
|
|
NM_176824.3(BBS7):c.1378del (p.Ser460fs)
|
|
|
NM_176824.3(BBS7):c.1389C>A (p.Gly463=)
|
|
|
NM_176824.3(BBS7):c.1402C>T (p.Leu468=)
|
|
|
NM_176824.3(BBS7):c.1404A>G (p.Leu468=)
|
|
|
NM_176824.3(BBS7):c.1410A>G (p.Ala470=)
|
rs1725394181
|
|
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter)
|
rs991365297
|
|
NM_176824.3(BBS7):c.1425A>G (p.Arg475=)
|
|
|
NM_176824.3(BBS7):c.1451G>A (p.Arg484His)
|
rs200720761
|
|
NM_176824.3(BBS7):c.1451G>C (p.Arg484Pro)
|
rs200720761
|
|
NM_176824.3(BBS7):c.1453C>T (p.Gln485Ter)
|
|
|
NM_176824.3(BBS7):c.1457A>G (p.Tyr486Cys)
|
rs2149056521
|
|
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter)
|
rs1470030897
|
|
NM_176824.3(BBS7):c.1459C>A (p.His487Asn)
|
rs1725389767
|
|
NM_176824.3(BBS7):c.1473T>A (p.Leu491=)
|
rs757900989
|
|
NM_176824.3(BBS7):c.1485A>G (p.Gln495=)
|
|
|
NM_176824.3(BBS7):c.1488A>G (p.Arg496=)
|
|
|
NM_176824.3(BBS7):c.148A>G (p.Lys50Glu)
|
rs1727082207
|
|
NM_176824.3(BBS7):c.1491T>G (p.Thr497=)
|
|
|
NM_176824.3(BBS7):c.1497dup (p.Ile500fs)
|
|
|
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
|
|
|
NM_176824.3(BBS7):c.1504C>T (p.His502Tyr)
|
rs2149056423
|
|
NM_176824.3(BBS7):c.1510A>T (p.Arg504Ter)
|
rs1725385758
|
|
NM_176824.3(BBS7):c.1511+16G>A
|
|
|
NM_176824.3(BBS7):c.1511+18G>A
|
|
|
NM_176824.3(BBS7):c.1512-14C>A
|
rs759936975
|
|
NM_176824.3(BBS7):c.1512-18T>C
|
|
|
NM_176824.3(BBS7):c.1512-1G>A
|
rs2149054421
|
|
NM_176824.3(BBS7):c.1512-20C>T
|
|
|
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser)
|
rs763160690
|
|
NM_176824.3(BBS7):c.1515C>T (p.Pro505=)
|
|
|
NM_176824.3(BBS7):c.1522A>G (p.Thr508Ala)
|
|
|
NM_176824.3(BBS7):c.153A>G (p.Lys51=)
|
|
|
NM_176824.3(BBS7):c.1545C>T (p.Phe515=)
|
|
|
NM_176824.3(BBS7):c.1554T>G (p.Ala518=)
|
|
|
NM_176824.3(BBS7):c.1558G>A (p.Val520Ile)
|
rs1211533033
|
|
NM_176824.3(BBS7):c.1563C>T (p.His521=)
|
rs2149054316
|
|
NM_176824.3(BBS7):c.1590A>G (p.Glu530=)
|
|
|
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)
|
rs587777836
|
|
NM_176824.3(BBS7):c.1604C>T (p.Pro535Leu)
|
rs1725285743
|
|
NM_176824.3(BBS7):c.1605T>G (p.Pro535=)
|
|
|
NM_176824.3(BBS7):c.1607C>T (p.Pro536Leu)
|
|
|
NM_176824.3(BBS7):c.1611A>C (p.Ala537=)
|
|
|
NM_176824.3(BBS7):c.1611A>G (p.Ala537=)
|
|
|
NM_176824.3(BBS7):c.1641C>G (p.Asn547Lys)
|
|
|
NM_176824.3(BBS7):c.165+20G>A
|
|
|
NM_176824.3(BBS7):c.165+20G>T
|
|
|
NM_176824.3(BBS7):c.165+5G>C
|
rs760257318
|
|
NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter)
|
rs1394015094
|
|
NM_176824.3(BBS7):c.1659del (p.Gln553fs)
|
|
|
NM_176824.3(BBS7):c.166-15A>C
|
|
|
NM_176824.3(BBS7):c.166-18C>G
|
|
|
NM_176824.3(BBS7):c.166-20_166-19del
|
|
|
NM_176824.3(BBS7):c.166-2A>G
|
|
|
NM_176824.3(BBS7):c.166-4del
|
|
|
NM_176824.3(BBS7):c.166-4dup
|
|
|
NM_176824.3(BBS7):c.1663G>T (p.Glu555Ter)
|
rs2149054103
|
|
NM_176824.3(BBS7):c.1668_1669delinsAT (p.Ser556_Thr557delinsArgSer)
|
|
|
NM_176824.3(BBS7):c.166G>T (p.Ala56Ser)
|
rs1407094427
|
|
NM_176824.3(BBS7):c.1671C>A (p.Thr557=)
|
|
|
NM_176824.3(BBS7):c.1676+13T>C
|
|
|
NM_176824.3(BBS7):c.1677-11T>G
|
|
|
NM_176824.3(BBS7):c.1677-14T>C
|
|
|
NM_176824.3(BBS7):c.1677-17del
|
|
|
NM_176824.3(BBS7):c.1677-2A>G
|
|
|
NM_176824.3(BBS7):c.1698A>G (p.Lys566=)
|
|
|
NM_176824.3(BBS7):c.1712C>T (p.Ser571Phe)
|
rs1295543172
|
|
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)
|
rs878853352
|
|
NM_176824.3(BBS7):c.1728A>G (p.Leu576=)
|
|
|
NM_176824.3(BBS7):c.173dup (p.Lys59fs)
|
|
|
NM_176824.3(BBS7):c.174C>T (p.Phe58=)
|
|
|
NM_176824.3(BBS7):c.1764A>G (p.Lys588=)
|
|
|
NM_176824.3(BBS7):c.1785C>T (p.Tyr595=)
|
|
|
NM_176824.3(BBS7):c.1786+10_1786+13del
|
|
|
NM_176824.3(BBS7):c.1786+14A>G
|
|
|
NM_176824.3(BBS7):c.1786+1G>T
|
rs1560638613
|
|
NM_176824.3(BBS7):c.1786+20_1786+22del
|
|
|
NM_176824.3(BBS7):c.1786+2T>C
|
|
|
NM_176824.3(BBS7):c.1786+8A>T
|
|
|
NM_176824.3(BBS7):c.1787-11A>C
|
rs779593410
|
|
NM_176824.3(BBS7):c.1787-11A>G
|
|
|
NM_176824.3(BBS7):c.1787-14T>C
|
|
|
NM_176824.3(BBS7):c.1787-16G>T
|
|
|
NM_176824.3(BBS7):c.1787-19del
|
|
|
NM_176824.3(BBS7):c.1788G>T (p.Glu596Asp)
|
|
|
NM_176824.3(BBS7):c.1803A>T (p.Ser601=)
|
|
|
NM_176824.3(BBS7):c.1812C>T (p.His604=)
|
|
|
NM_176824.3(BBS7):c.1818A>G (p.Leu606=)
|
|
|
NM_176824.3(BBS7):c.1822C>T (p.Leu608=)
|
|
|
NM_176824.3(BBS7):c.1825A>G (p.Ile609Val)
|
|
|
NM_176824.3(BBS7):c.1830C>T (p.His610=)
|
|
|
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
|
|
|
NM_176824.3(BBS7):c.1849T>C (p.Leu617=)
|
|
|
NM_176824.3(BBS7):c.186C>G (p.Pro62=)
|
|
|
NM_176824.3(BBS7):c.1881T>C (p.Asp627=)
|
|
|
NM_176824.3(BBS7):c.1890+15C>T
|
rs761350391
|
|
NM_176824.3(BBS7):c.1890+15_1890+16delinsTA
|
rs2149048318
|
|
NM_176824.3(BBS7):c.1890+16G>C
|
|
|
NM_176824.3(BBS7):c.1890+17T>C
|
|
|
NM_176824.3(BBS7):c.1890+18C>T
|
|
|
NM_176824.3(BBS7):c.1890+19G>T
|
|
|
NM_176824.3(BBS7):c.1890+2dup
|
|
|
NM_176824.3(BBS7):c.1890+6T>C
|
rs1553930514
|
|
NM_176824.3(BBS7):c.1890+8C>T
|
|
|
NM_176824.3(BBS7):c.1890+9A>G
|
|
|
NM_176824.3(BBS7):c.1891-16T>G
|
|
|
NM_176824.3(BBS7):c.1891-1G>A
|
rs2149048173
|
|
NM_176824.3(BBS7):c.1891-2A>C
|
rs1057519027
|
|
NM_176824.3(BBS7):c.1897C>T (p.Gln633Ter)
|
|
|
NM_176824.3(BBS7):c.1908G>A (p.Glu636=)
|
|
|
NM_176824.3(BBS7):c.1923T>A (p.Phe641Leu)
|
|
|
NM_176824.3(BBS7):c.1948C>T (p.Leu650=)
|
|
|
NM_176824.3(BBS7):c.1953A>G (p.Glu651=)
|
|
|
NM_176824.3(BBS7):c.1965C>T (p.His655=)
|
|
|
NM_176824.3(BBS7):c.1966C>T (p.Leu656=)
|
|
|
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)
|
rs672601379
|
|
NM_176824.3(BBS7):c.1968A>G (p.Leu656=)
|
|
|
NM_176824.3(BBS7):c.1970A>G (p.Gln657Arg)
|
rs1724997637
|
|
NM_176824.3(BBS7):c.1975G>C (p.Glu659Gln)
|
|
|
NM_176824.3(BBS7):c.1978T>C (p.Tyr660His)
|
|
|
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs)
|
rs863224529
|
|
NM_176824.3(BBS7):c.1992T>C (p.Pro664=)
|
rs1724995426
|
|
NM_176824.3(BBS7):c.1995A>C (p.Ala665=)
|
|
|
NM_176824.3(BBS7):c.19C>A (p.Arg7=)
|
|
|
NM_176824.3(BBS7):c.2007A>T (p.Arg669Ser)
|
|
|
NM_176824.3(BBS7):c.2010C>T (p.Leu670=)
|
|
|
NM_176824.3(BBS7):c.2014+9A>G
|
|
|
NM_176824.3(BBS7):c.2015-17A>T
|
rs1226821091
|
|
NM_176824.3(BBS7):c.2015-6T>C
|
|
|
NM_176824.3(BBS7):c.2015G>T (p.Gly672Val)
|
|
|
NM_176824.3(BBS7):c.2016C>T (p.Gly672=)
|
|
|
NM_176824.3(BBS7):c.2034C>T (p.Phe678=)
|
rs2149045756
|
|
NM_176824.3(BBS7):c.2035A>G (p.Ile679Val)
|
|
|
NM_176824.3(BBS7):c.2042A>C (p.Lys681Thr)
|
|
|
NM_176824.3(BBS7):c.2046T>C (p.Phe682=)
|
rs753884144
|
|
NM_176824.3(BBS7):c.2046T>G (p.Phe682Leu)
|
|
|
NM_176824.3(BBS7):c.2057G>A (p.Gly686Asp)
|
|
|
NM_176824.3(BBS7):c.2062A>T (p.Asn688Tyr)
|
rs2149045701
|
|
NM_176824.3(BBS7):c.2067A>G (p.Val689=)
|
|
|
NM_176824.3(BBS7):c.2073T>C (p.Thr691=)
|
rs2149045672
|
|
NM_176824.3(BBS7):c.2074A>G (p.Lys692Glu)
|
rs1724883700
|
|
NM_176824.3(BBS7):c.2083C>A (p.Leu695Ile)
|
|
|
NM_176824.3(BBS7):c.2105G>T (p.Ser702Ile)
|
|
|
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg)
|
rs1229720963
|
|
NM_176824.3(BBS7):c.2133C>T (p.Phe711=)
|
|
|
NM_176824.3(BBS7):c.213G>C (p.Leu71=)
|
|
|
NM_176824.3(BBS7):c.2142A>G (p.Ala714=)
|
rs2149045575
|
|
NM_176824.3(BBS7):c.214G>A (p.Gly72Arg)
|
|
|
NM_176824.3(BBS7):c.219G>A (p.Gly73=)
|
|
|
NM_176824.3(BBS7):c.22A>G (p.Met8Val)
|
rs757370927
|
|
NM_176824.3(BBS7):c.22A>T (p.Met8Leu)
|
rs757370927
|
|
NM_176824.3(BBS7):c.237G>A (p.Gln79=)
|
|
|
NM_176824.3(BBS7):c.249T>C (p.Phe83=)
|
|
|
NM_176824.3(BBS7):c.258A>G (p.Ala86=)
|
|
|
NM_176824.3(BBS7):c.268A>G (p.Ile90Val)
|
|
|
NM_176824.3(BBS7):c.270T>G (p.Ile90Met)
|
|
|
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly)
|
rs1050167281
|
|
NM_176824.3(BBS7):c.282A>G (p.Thr94=)
|
|
|
NM_176824.3(BBS7):c.282A>T (p.Thr94=)
|
|
|
NM_176824.3(BBS7):c.291A>G (p.Gly97=)
|
|
|
NM_176824.3(BBS7):c.294A>G (p.Lys98=)
|
rs2149087496
|
|
NM_176824.3(BBS7):c.300C>T (p.Phe100=)
|
rs750255237
|
|
NM_176824.3(BBS7):c.301C>G (p.Leu101Val)
|
rs2149087474
|
|
NM_176824.3(BBS7):c.302T>A (p.Leu101His)
|
rs760863058
|
|
NM_176824.3(BBS7):c.303C>T (p.Leu101=)
|
|
|
NM_176824.3(BBS7):c.306C>A (p.Ser102=)
|
|
|
NM_176824.3(BBS7):c.326A>G (p.Glu109Gly)
|
rs2149087444
|
|
NM_176824.3(BBS7):c.337G>T (p.Ala113Ser)
|
rs2149087425
|
|
NM_176824.3(BBS7):c.339T>G (p.Ala113=)
|
|
|
NM_176824.3(BBS7):c.33G>A (p.Leu11=)
|
|
|
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.341+10T>C
|
|
|
NM_176824.3(BBS7):c.341+12G>A
|
|
|
NM_176824.3(BBS7):c.341+17C>G
|
|
|
NM_176824.3(BBS7):c.341+20T>A
|
|
|
NM_176824.3(BBS7):c.341+20_341+21del
|
rs755362565
|
|
NM_176824.3(BBS7):c.341+8T>C
|
rs2149087412
|
|
NM_176824.3(BBS7):c.342-11A>G
|
|
|
NM_176824.3(BBS7):c.342-16A>T
|
|
|
NM_176824.3(BBS7):c.342-19A>G
|
|
|
NM_176824.3(BBS7):c.342-3C>G
|
rs1244071022
|
|
NM_176824.3(BBS7):c.346A>G (p.Ile116Val)
|
rs2149085075
|
|
NM_176824.3(BBS7):c.36+14A>T
|
|
|
NM_176824.3(BBS7):c.36+17G>A
|
|
|
NM_176824.3(BBS7):c.36+20C>T
|
|
|
NM_176824.3(BBS7):c.36+4A>G
|
|
|
NM_176824.3(BBS7):c.36+9A>G
|
|
|
NM_176824.3(BBS7):c.362T>A (p.Leu121His)
|
rs2149085046
|
|
NM_176824.3(BBS7):c.37-14G>A
|
rs1727381941
|
|
NM_176824.3(BBS7):c.37-19A>C
|
|
|
NM_176824.3(BBS7):c.37-20C>T
|
|
|
NM_176824.3(BBS7):c.37-5T>C
|
|
|
NM_176824.3(BBS7):c.379T>G (p.Tyr127Asp)
|
rs2149085024
|
|
NM_176824.3(BBS7):c.381C>T (p.Tyr127=)
|
|
|
NM_176824.3(BBS7):c.386dup (p.Tyr129Ter)
|
|
|
NM_176824.3(BBS7):c.389A>C (p.Asn130Thr)
|
rs2149085001
|
|
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)
|
rs863224530
|
|
NM_176824.3(BBS7):c.391C>T (p.His131Tyr)
|
|
|
NM_176824.3(BBS7):c.398G>A (p.Cys133Tyr)
|
rs769735978
|
|
NM_176824.3(BBS7):c.399dup (p.Asp134Ter)
|
|
|
NM_176824.3(BBS7):c.405C>T (p.Cys135=)
|
|
|
NM_176824.3(BBS7):c.417T>C (p.His139=)
|
|
|
NM_176824.3(BBS7):c.423C>A (p.Tyr141Ter)
|
|
|
NM_176824.3(BBS7):c.436A>G (p.Lys146Glu)
|
|
|
NM_176824.3(BBS7):c.443A>G (p.Asn148Ser)
|
rs2149084908
|
|
NM_176824.3(BBS7):c.454T>C (p.Cys152Arg)
|
rs863224814
|
|
NM_176824.3(BBS7):c.483C>A (p.Ile161=)
|
|
|
NM_176824.3(BBS7):c.488del (p.Pro163fs)
|
rs2149084861
|
|
NM_176824.3(BBS7):c.48A>C (p.Thr16=)
|
|
|
NM_176824.3(BBS7):c.497C>T (p.Ala166Val)
|
rs1341540567
|
|
NM_176824.3(BBS7):c.502C>T (p.Gln168Ter)
|
|
|
NM_176824.3(BBS7):c.505G>C (p.Asp169His)
|
|
|
NM_176824.3(BBS7):c.511G>C (p.Val171Leu)
|
|
|
NM_176824.3(BBS7):c.528+11T>A
|
|
|
NM_176824.3(BBS7):c.528+11T>C
|
|
|
NM_176824.3(BBS7):c.529-15dup
|
|
|
NM_176824.3(BBS7):c.529-1dup
|
rs1726566546
|
|
NM_176824.3(BBS7):c.529-7C>T
|
|
|
NM_176824.3(BBS7):c.529-7_529-5del
|
rs758828904
|
|
NM_176824.3(BBS7):c.529-9C>G
|
|
|
NM_176824.3(BBS7):c.535G>A (p.Asp179Asn)
|
rs2149080347
|
|
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs)
|
rs1553933472
|
|
NM_176824.3(BBS7):c.543G>A (p.Met181Ile)
|
|
|
NM_176824.3(BBS7):c.546T>C (p.Tyr182=)
|
|
|
NM_176824.3(BBS7):c.54G>A (p.Gln18=)
|
rs754868012
|
|
NM_176824.3(BBS7):c.552T>C (p.Val184=)
|
|
|
NM_176824.3(BBS7):c.564A>G (p.Gly188=)
|
|
|
NM_176824.3(BBS7):c.567C>T (p.Pro189=)
|
rs567185907
|
|
NM_176824.3(BBS7):c.574G>C (p.Val192Leu)
|
|
|
NM_176824.3(BBS7):c.578T>C (p.Leu193Ser)
|
rs1726562977
|
|
NM_176824.3(BBS7):c.579A>G (p.Leu193=)
|
|
|
NM_176824.3(BBS7):c.580_582del (p.Ala194del)
|
|
|
NM_176824.3(BBS7):c.584T>C (p.Leu195Pro)
|
|
|
NM_176824.3(BBS7):c.586C>T (p.His196Tyr)
|
|
|
NM_176824.3(BBS7):c.600C>A (p.Gly200=)
|
rs370053625
|
|
NM_176824.3(BBS7):c.600C>T (p.Gly200=)
|
rs370053625
|
|
NM_176824.3(BBS7):c.601+15A>G
|
|
|
NM_176824.3(BBS7):c.602-18G>A
|
|
|
NM_176824.3(BBS7):c.602-4G>T
|
|
|
NM_176824.3(BBS7):c.602-8A>G
|
|
|
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
|
|
|
NM_176824.3(BBS7):c.618C>T (p.Asp206=)
|
|
|
NM_176824.3(BBS7):c.627T>C (p.Phe209=)
|
rs2149079198
|
|
NM_176824.3(BBS7):c.632C>G (p.Thr211Arg)
|
rs119466002
|
|
NM_176824.3(BBS7):c.633A>G (p.Thr211=)
|
|
|
NM_176824.3(BBS7):c.635C>T (p.Ser212Leu)
|
|
|
NM_176824.3(BBS7):c.655A>G (p.Ile219Val)
|
rs2149079121
|
|
NM_176824.3(BBS7):c.666T>C (p.Thr222=)
|
|
|
NM_176824.3(BBS7):c.682C>T (p.Arg228Cys)
|
rs762367354
|
|
NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)
|
|
|
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)
|
rs1727380420
|
|
NM_176824.3(BBS7):c.690G>A (p.Trp230Ter)
|
|
|
NM_176824.3(BBS7):c.711G>T (p.Lys237Asn)
|
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_176824.3(BBS7):c.718+12A>C
|
|
|
NM_176824.3(BBS7):c.718+16A>T
|
rs368687702
|
|
NM_176824.3(BBS7):c.718+20C>G
|
|
|
NM_176824.3(BBS7):c.718+3A>T
|
|
|
NM_176824.3(BBS7):c.718G>A (p.Gly240Ser)
|
|
|
NM_176824.3(BBS7):c.719-20T>A
|
|
|
NM_176824.3(BBS7):c.719-20T>C
|
|
|
NM_176824.3(BBS7):c.719G>T (p.Gly240Val)
|
|
|
NM_176824.3(BBS7):c.726G>A (p.Leu242=)
|
rs2149077327
|
|
NM_176824.3(BBS7):c.72del (p.Pro25fs)
|
|
|
NM_176824.3(BBS7):c.737G>A (p.Ser246Asn)
|
rs1444684339
|
|
NM_176824.3(BBS7):c.746T>G (p.Ile249Ser)
|
|
|
NM_176824.3(BBS7):c.747T>C (p.Ile249=)
|
|
|
NM_176824.3(BBS7):c.748G>C (p.Val250Leu)
|
|
|
NM_176824.3(BBS7):c.748G>T (p.Val250Leu)
|
rs759886973
|
|
NM_176824.3(BBS7):c.756T>C (p.Asp252=)
|
|
|
NM_176824.3(BBS7):c.785A>G (p.Asp262Gly)
|
rs1726405384
|
|
NM_176824.3(BBS7):c.785_786del (p.Asp262fs)
|
|
|
NM_176824.3(BBS7):c.78C>G (p.Ala26=)
|
|
|
NM_176824.3(BBS7):c.794T>C (p.Met265Thr)
|
rs1726404404
|
|
NM_176824.3(BBS7):c.7C>A (p.Leu3Met)
|
|
|
NM_176824.3(BBS7):c.804G>A (p.Val268=)
|
|
|
NM_176824.3(BBS7):c.81A>G (p.Ser27=)
|
|
|
NM_176824.3(BBS7):c.821C>G (p.Ala274Gly)
|
|
|
NM_176824.3(BBS7):c.821C>T (p.Ala274Val)
|
rs754878470
|
|
NM_176824.3(BBS7):c.82A>G (p.Arg28Gly)
|
rs2149094179
|
|
NM_176824.3(BBS7):c.835C>T (p.Leu279=)
|
|
|
NM_176824.3(BBS7):c.842T>A (p.Phe281Tyr)
|
|
|
NM_176824.3(BBS7):c.847C>G (p.Gln283Glu)
|
|
|
NM_176824.3(BBS7):c.849+12A>G
|
|
|
NM_176824.3(BBS7):c.849+12A>T
|
|
|
NM_176824.3(BBS7):c.849+17A>G
|
|
|
NM_176824.3(BBS7):c.849+17del
|
|
|
NM_176824.3(BBS7):c.849+17dup
|
|
|
NM_176824.3(BBS7):c.849+9A>G
|
|
|
NM_176824.3(BBS7):c.849+9A>T
|
|
|
NM_176824.3(BBS7):c.850-10A>G
|
|
|
NM_176824.3(BBS7):c.850-20T>C
|
|
|
NM_176824.3(BBS7):c.850-8T>G
|
|
|
NM_176824.3(BBS7):c.867C>A (p.Val289=)
|
|
|
NM_176824.3(BBS7):c.867C>G (p.Val289=)
|
|
|
NM_176824.3(BBS7):c.87C>T (p.His29=)
|
|
|
NM_176824.3(BBS7):c.87_88del (p.His29fs)
|
rs1578577361
|
|
NM_176824.3(BBS7):c.880G>A (p.Gly294Ser)
|
|
|
NM_176824.3(BBS7):c.886T>C (p.Cys296Arg)
|
rs2149072518
|
|
NM_176824.3(BBS7):c.894A>G (p.Gly298=)
|
|
|
NM_176824.3(BBS7):c.90_91del (p.Arg30fs)
|
|
|
NM_176824.3(BBS7):c.927A>C (p.Thr309=)
|
rs771825770
|
|
NM_176824.3(BBS7):c.934+10A>C
|
|
|
NM_176824.3(BBS7):c.934+10A>G
|
|
|
NM_176824.3(BBS7):c.934+11T>C
|
rs1461872585
|
|
NM_176824.3(BBS7):c.934+17T>C
|
rs1165897878
|
|
NM_176824.3(BBS7):c.935-18T>G
|
|
|
NM_176824.3(BBS7):c.935-4A>G
|
|
|
NM_176824.3(BBS7):c.935-8C>G
|
|
|
NM_176824.3(BBS7):c.935G>C (p.Gly312Ala)
|
|
|
NM_176824.3(BBS7):c.945A>C (p.Thr315=)
|
|
|
NM_176824.3(BBS7):c.945A>G (p.Thr315=)
|
|
|
NM_176824.3(BBS7):c.947G>T (p.Gly316Val)
|
|
|
NM_176824.3(BBS7):c.94A>G (p.Thr32Ala)
|
|
|
NM_176824.3(BBS7):c.96A>T (p.Thr32=)
|
|
|
NM_176824.3(BBS7):c.976A>G (p.Ser326Gly)
|
rs863224815
|
|
NM_176824.3(BBS7):c.987A>G (p.Gly329=)
|
|
|
NM_198428.2(BBS9):c.(?_-1)_328+?del
|
|
|
NM_198428.3(BBS9):c.1000A>C (p.Arg334=)
|
|
|
NM_198428.3(BBS9):c.1014_1015delinsTT (p.Leu338_His339delinsPheTyr)
|
rs2128347670
|
|
NM_198428.3(BBS9):c.1016+19C>T
|
|
|
NM_198428.3(BBS9):c.1016+20A>G
|
rs2128347768
|
|
NM_198428.3(BBS9):c.1016+2dup
|
|
|
NM_198428.3(BBS9):c.1016+7del
|
|
|
NM_198428.3(BBS9):c.1016+8A>G
|
|
|
NM_198428.3(BBS9):c.1016+8A>T
|
|
|
NM_198428.3(BBS9):c.1017-14C>T
|
|
|
NM_198428.3(BBS9):c.1017-4G>T
|
|
|
NM_198428.3(BBS9):c.101G>A (p.Gly34Glu)
|
|
|
NM_198428.3(BBS9):c.1020T>C (p.Asp340=)
|
|
|
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
|
|
|
NM_198428.3(BBS9):c.1027G>T (p.Gly343Ter)
|
|
|
NM_198428.3(BBS9):c.102A>G (p.Gly34=)
|
|
|
NM_198428.3(BBS9):c.1035A>C (p.Ile345=)
|
|
|
NM_198428.3(BBS9):c.1042C>T (p.Leu348=)
|
|
|
NM_198428.3(BBS9):c.1046G>A (p.Ser349Asn)
|
|
|
NM_198428.3(BBS9):c.1053T>C (p.Asp351=)
|
|
|
NM_198428.3(BBS9):c.1059C>T (p.His353=)
|
rs2128625827
|
|
NM_198428.3(BBS9):c.105T>C (p.Asn35=)
|
rs577536627
|
|
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)
|
rs137852858
|
|
NM_198428.3(BBS9):c.1065G>A (p.Gln355=)
|
rs756380526
|
|
NM_198428.3(BBS9):c.1099C>T (p.Gln367Ter)
|
|
|
NM_198428.3(BBS9):c.1103C>T (p.Ala368Val)
|
rs1815389952
|
|
NM_198428.3(BBS9):c.1104T>G (p.Ala368=)
|
|
|
NM_198428.3(BBS9):c.1107A>G (p.Pro369=)
|
rs1227576006
|
|
NM_198428.3(BBS9):c.1116A>G (p.Gln372=)
|
|
|
NM_198428.3(BBS9):c.112+11T>G
|
rs1792345660
|
|
NM_198428.3(BBS9):c.112+18A>G
|
|
|
NM_198428.3(BBS9):c.112+19T>A
|
|
|
NM_198428.3(BBS9):c.112+21_112+22del
|
|
|
NM_198428.3(BBS9):c.1125A>G (p.Glu375=)
|
|
|
NM_198428.3(BBS9):c.1128A>G (p.Leu376=)
|
|
|
NM_198428.3(BBS9):c.113-17_113-16insG
|
|
|
NM_198428.3(BBS9):c.113-9T>C
|
rs1793527699
|
|
NM_198428.3(BBS9):c.1134T>C (p.Tyr378=)
|
|
|
NM_198428.3(BBS9):c.114T>G (p.Asp38Glu)
|
|
|
NM_198428.3(BBS9):c.1152A>G (p.Glu384=)
|
|
|
NM_198428.3(BBS9):c.1182T>C (p.Asp394=)
|
|
|
NM_198428.3(BBS9):c.1194A>G (p.Ser398=)
|
|
|
NM_198428.3(BBS9):c.1198+11T>C
|
|
|
NM_198428.3(BBS9):c.1198+12G>T
|
|
|
NM_198428.3(BBS9):c.1198+14A>T
|
|
|
NM_198428.3(BBS9):c.1198+15G>T
|
|
|
NM_198428.3(BBS9):c.1198+16C>G
|
|
|
NM_198428.3(BBS9):c.1198+9T>C
|
|
|
NM_198428.3(BBS9):c.1199-12T>C
|
|
|
NM_198428.3(BBS9):c.11T>A (p.Phe4Tyr)
|
rs746345067
|
|
NM_198428.3(BBS9):c.11T>G (p.Phe4Cys)
|
rs746345067
|
|
NM_198428.3(BBS9):c.1200T>C (p.Gly400=)
|
|
|
NM_198428.3(BBS9):c.1221A>G (p.Arg407=)
|
|
|
NM_198428.3(BBS9):c.1228G>T (p.Asp410Tyr)
|
rs1000831388
|
|
NM_198428.3(BBS9):c.1245C>A (p.Val415=)
|
rs61764066
|
|
NM_198428.3(BBS9):c.1245C>G (p.Val415=)
|
|
|
NM_198428.3(BBS9):c.1249G>C (p.Val417Leu)
|
rs751604593
|
|
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe)
|
rs751604593
|
|
NM_198428.3(BBS9):c.1269A>G (p.Ser423=)
|
|
|
NM_198428.3(BBS9):c.1275+19T>A
|
|
|
NM_198428.3(BBS9):c.1275+6T>G
|
rs1816408545
|
|
NM_198428.3(BBS9):c.1276-10G>T
|
|
|
NM_198428.3(BBS9):c.1276-15del
|
rs2128646892
|
|
NM_198428.3(BBS9):c.1277_1280del
|
rs2128646927
|
|
NM_198428.3(BBS9):c.1281G>A (p.Ala427=)
|
|
|
NM_198428.3(BBS9):c.1283_1286del (p.Thr428fs)
|
|
|
NM_198428.3(BBS9):c.1288G>A (p.Val430Ile)
|
|
|
NM_198428.3(BBS9):c.1302T>G (p.Thr434=)
|
rs1173516747
|
|
NM_198428.3(BBS9):c.1305C>T (p.Asp435=)
|
rs2128647066
|
|
NM_198428.3(BBS9):c.1308T>C (p.Leu436=)
|
rs886043248
|
|
NM_198428.3(BBS9):c.1311C>G (p.Val437=)
|
|
|
NM_198428.3(BBS9):c.1323G>A (p.Thr441=)
|
|
|
NM_198428.3(BBS9):c.1329+11A>G
|
|
|
NM_198428.3(BBS9):c.1329+14T>A
|
|
|
NM_198428.3(BBS9):c.1329+1738C>T
|
|
|
NM_198428.3(BBS9):c.1329+9C>A
|
rs747489914
|
|
NM_198428.3(BBS9):c.1330-10G>T
|
|
|
NM_198428.3(BBS9):c.1330-17A>G
|
|
|
NM_198428.3(BBS9):c.1330-18C>A
|
rs547699537
|
|
NM_198428.3(BBS9):c.1330-18_1330-16del
|
|
|
NM_198428.3(BBS9):c.1330-19A>G
|
|
|
NM_198428.3(BBS9):c.1330-6C>T
|
|
|
NM_198428.3(BBS9):c.1330G>C (p.Val444Leu)
|
|
|
NM_198428.3(BBS9):c.1335A>C (p.Thr445=)
|
|
|
NM_198428.3(BBS9):c.1335A>G (p.Thr445=)
|
|
|
NM_198428.3(BBS9):c.1344C>T (p.Asn448=)
|
|
|
NM_198428.3(BBS9):c.1354T>C (p.Leu452=)
|
|
|
NM_198428.3(BBS9):c.1359A>G (p.Gln453=)
|
|
|
NM_198428.3(BBS9):c.1367A>G (p.Lys456Arg)
|
rs2128661224
|
|
NM_198428.3(BBS9):c.136A>T (p.Met46Leu)
|
|
|
NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser)
|
rs762511626
|
|
NM_198428.3(BBS9):c.1380C>T (p.Tyr460=)
|
|
|
NM_198428.3(BBS9):c.1386A>G (p.Gln462=)
|
|
|
NM_198428.3(BBS9):c.1389A>G (p.Pro463=)
|
|
|
NM_198428.3(BBS9):c.1398A>G (p.Glu466=)
|
|
|
NM_198428.3(BBS9):c.1399T>C (p.Leu467=)
|
|
|
NM_198428.3(BBS9):c.1410T>C (p.Asp470=)
|
|
|
NM_198428.3(BBS9):c.1413G>A (p.Gln471=)
|
|
|
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter)
|
rs863224534
|
|
NM_198428.3(BBS9):c.1425A>G (p.Glu475=)
|
|
|
NM_198428.3(BBS9):c.1426T>A (p.Phe476Ile)
|
|
|
NM_198428.3(BBS9):c.1432+12G>A
|
|
|
NM_198428.3(BBS9):c.1432+12G>C
|
|
|
NM_198428.3(BBS9):c.1433-12C>A
|
|
|
NM_198428.3(BBS9):c.1433-19A>T
|
|
|
NM_198428.3(BBS9):c.1433-2A>G
|
|
|
NM_198428.3(BBS9):c.1433-9T>C
|
|
|
NM_198428.3(BBS9):c.1441T>C (p.Leu481=)
|
|
|
NM_198428.3(BBS9):c.1443G>A (p.Leu481=)
|
|
|
NM_198428.3(BBS9):c.144C>T (p.Tyr48=)
|
|
|
NM_198428.3(BBS9):c.1453G>C (p.Val485Leu)
|
|
|
NM_198428.3(BBS9):c.1466T>C (p.Val489Ala)
|
|
|
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)
|
rs2128667543
|
|
NM_198428.3(BBS9):c.1491A>G (p.Pro497=)
|
|
|
NM_198428.3(BBS9):c.1498T>C (p.Leu500=)
|
|
|
NM_198428.3(BBS9):c.1506A>C (p.Gly502=)
|
|
|
NM_198428.3(BBS9):c.1515T>C (p.Val505=)
|
|
|
NM_198428.3(BBS9):c.1531C>A (p.Pro511Thr)
|
|
|
NM_198428.3(BBS9):c.1532C>A (p.Pro511Gln)
|
rs965817527
|
|
NM_198428.3(BBS9):c.1532C>G (p.Pro511Arg)
|
|
|
NM_198428.3(BBS9):c.1537+12G>C
|
|
|
NM_198428.3(BBS9):c.1537+13dup
|
|
|
NM_198428.3(BBS9):c.1537+20C>A
|
|
|
NM_198428.3(BBS9):c.1537+20C>T
|
|
|
NM_198428.3(BBS9):c.1537+9A>G
|
rs2128667783
|
|
NM_198428.3(BBS9):c.1538-13C>A
|
|
|
NM_198428.3(BBS9):c.1538-13C>T
|
|
|
NM_198428.3(BBS9):c.1538-17T>C
|
|
|
NM_198428.3(BBS9):c.1538-4A>G
|
|
|
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter)
|
rs1401715737
|
|
NM_198428.3(BBS9):c.1544A>T (p.Asn515Ile)
|
|
|
NM_198428.3(BBS9):c.1547C>T (p.Pro516Leu)
|
|
|
NM_198428.3(BBS9):c.1552+17T>C
|
|
|
NM_198428.3(BBS9):c.1552+2T>A
|
rs1563049863
|
|
NM_198428.3(BBS9):c.1552+5G>T
|
|
|
NM_198428.3(BBS9):c.1553-12C>G
|
|
|
NM_198428.3(BBS9):c.1553-14C>T
|
|
|
NM_198428.3(BBS9):c.1553-20A>C
|
|
|
NM_198428.3(BBS9):c.1553-20A>G
|
|
|
NM_198428.3(BBS9):c.1553-8T>C
|
|
|
NM_198428.3(BBS9):c.1562G>C (p.Arg521Pro)
|
rs34218557
|
|
NM_198428.3(BBS9):c.1575T>C (p.Cys525=)
|
|
|
NM_198428.3(BBS9):c.1582A>G (p.Arg528Gly)
|
|
|
NM_198428.3(BBS9):c.1586T>A (p.Leu529His)
|
|
|
NM_198428.3(BBS9):c.1591C>T (p.Leu531=)
|
|
|
NM_198428.3(BBS9):c.1596G>C (p.Lys532Asn)
|
|
|
NM_198428.3(BBS9):c.1599A>G (p.Leu533=)
|
|
|
NM_198428.3(BBS9):c.1608A>G (p.Leu536=)
|
|
|
NM_198428.3(BBS9):c.160C>A (p.Pro54Thr)
|
|
|
NM_198428.3(BBS9):c.1610C>T (p.Pro537Leu)
|
|
|
NM_198428.3(BBS9):c.1617G>A (p.Gln539=)
|
|
|
NM_198428.3(BBS9):c.1623A>G (p.Ser541=)
|
|
|
NM_198428.3(BBS9):c.1624A>T (p.Lys542Ter)
|
|
|
NM_198428.3(BBS9):c.1637A>G (p.His546Arg)
|
|
|
NM_198428.3(BBS9):c.1644T>A (p.Ile548=)
|
|
|
NM_198428.3(BBS9):c.1646C>G (p.Thr549Ser)
|
|
|
NM_198428.3(BBS9):c.165T>C (p.His55=)
|
|
|
NM_198428.3(BBS9):c.1670T>G (p.Val557Gly)
|
rs1819942366
|
|
NM_198428.3(BBS9):c.1671C>T (p.Val557=)
|
|
|
NM_198428.3(BBS9):c.1674T>C (p.Ser558=)
|
|
|
NM_198428.3(BBS9):c.1691C>T (p.Pro564Leu)
|
|
|
NM_198428.3(BBS9):c.1693+4del
|
rs2128687729
|
|
NM_198428.3(BBS9):c.1694-10T>C
|
|
|
NM_198428.3(BBS9):c.1694-4G>A
|
|
|
NM_198428.3(BBS9):c.1694-4G>C
|
|
|
NM_198428.3(BBS9):c.1694-6T>G
|
rs28622379
|
|
NM_198428.3(BBS9):c.1701C>G (p.Ala567=)
|
|
|
NM_198428.3(BBS9):c.1716T>C (p.Asp572=)
|
|
|
NM_198428.3(BBS9):c.1725G>C (p.Val575=)
|
|
|
NM_198428.3(BBS9):c.1725G>T (p.Val575=)
|
|
|
NM_198428.3(BBS9):c.1743C>T (p.His581=)
|
|
|
NM_198428.3(BBS9):c.1749A>G (p.Leu583=)
|
rs1822081249
|
|
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)
|
rs746797123
|
|
NM_198428.3(BBS9):c.1767T>C (p.Thr589=)
|
rs534722075
|
|
NM_198428.3(BBS9):c.176C>A (p.Thr59Lys)
|
rs749727731
|
|
NM_198428.3(BBS9):c.1773T>C (p.Leu591=)
|
|
|
NM_198428.3(BBS9):c.1775C>G (p.Ala592Gly)
|
|
|
NM_198428.3(BBS9):c.1776T>G (p.Ala592=)
|
rs2128714393
|
|
NM_198428.3(BBS9):c.1779C>T (p.Ser593=)
|
|
|
NM_198428.3(BBS9):c.177A>G (p.Thr59=)
|
|
|
NM_198428.3(BBS9):c.1786T>G (p.Ser596Ala)
|
|
|
NM_198428.3(BBS9):c.1789+12C>A
|
|
|
NM_198428.3(BBS9):c.1789+15G>C
|
|
|
NM_198428.3(BBS9):c.1789+1G>A
|
rs201938124
|
|
NM_198428.3(BBS9):c.1789+1G>C
|
|
|
NM_198428.3(BBS9):c.1789+1G>T
|
rs201938124
|
|
NM_198428.3(BBS9):c.1789+5G>T
|
rs2128714437
|
|
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)
|
rs948418225
|
|
NM_198428.3(BBS9):c.1790-13T>A
|
|
|
NM_198428.3(BBS9):c.1790-16A>C
|
|
|
NM_198428.3(BBS9):c.1790-17T>C
|
rs765367261
|
|
NM_198428.3(BBS9):c.1790-18T>A
|
rs2128748428
|
|
NM_198428.3(BBS9):c.1790-19C>T
|
|
|
NM_198428.3(BBS9):c.1790-20C>G
|
|
|
NM_198428.3(BBS9):c.1790-3C>T
|
|
|
NM_198428.3(BBS9):c.1790-7C>A
|
|
|
NM_198428.3(BBS9):c.1790-8del
|
|
|
NM_198428.3(BBS9):c.1790-8dup
|
|
|
NM_198428.3(BBS9):c.1793G>A (p.Arg598Gln)
|
|
|
NM_198428.3(BBS9):c.1794A>T (p.Arg598=)
|
|
|
NM_198428.3(BBS9):c.1799G>A (p.Arg600His)
|
rs749018243
|
|
NM_198428.3(BBS9):c.1799G>T (p.Arg600Leu)
|
|
|
NM_198428.3(BBS9):c.1808G>C (p.Ser603Thr)
|
rs1584588488
|
|
NM_198428.3(BBS9):c.1809T>C (p.Ser603=)
|
|
|
NM_198428.3(BBS9):c.1812del (p.Glu604fs)
|
rs1229015450
|
|
NM_198428.3(BBS9):c.1824T>C (p.Asp608=)
|
|
|
NM_198428.3(BBS9):c.1833C>T (p.Leu611=)
|
|
|
NM_198428.3(BBS9):c.1841A>G (p.Asn614Ser)
|
rs1825501129
|
|
NM_198428.3(BBS9):c.1843G>A (p.Glu615Lys)
|
rs993175361
|
|
NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly)
|
rs370925964
|
|
NM_198428.3(BBS9):c.1845G>A (p.Glu615=)
|
|
|
NM_198428.3(BBS9):c.1860T>A (p.Leu620=)
|
|
|
NM_198428.3(BBS9):c.1863A>G (p.Gln621=)
|
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|
NM_198428.3(BBS9):c.1884A>G (p.Gly628=)
|
|
|
NM_198428.3(BBS9):c.1893T>C (p.Asp631=)
|
|
|
NM_198428.3(BBS9):c.1899A>G (p.Ala633=)
|
|
|
NM_198428.3(BBS9):c.18C>T (p.Ala6=)
|
|
|
NM_198428.3(BBS9):c.1902T>C (p.Cys634=)
|
|
|
NM_198428.3(BBS9):c.1923C>A (p.Pro641=)
|
rs886062287
|
|
NM_198428.3(BBS9):c.1928A>G (p.Gln643Arg)
|
rs1048014676
|
|
NM_198428.3(BBS9):c.1937T>C (p.Phe646Ser)
|
|
|
NM_198428.3(BBS9):c.1951C>G (p.His651Asp)
|
|
|
NM_198428.3(BBS9):c.195C>A (p.Ala65=)
|
rs373063776
|
|
NM_198428.3(BBS9):c.1962+11T>C
|
|
|
NM_198428.3(BBS9):c.1962+17C>T
|
|
|
NM_198428.3(BBS9):c.1962+18C>A
|
|
|
NM_198428.3(BBS9):c.1962+18C>G
|
|
|
NM_198428.3(BBS9):c.1962+3A>T
|
rs1017765966
|
|
NM_198428.3(BBS9):c.1962+9G>A
|
|
|
NM_198428.3(BBS9):c.1963-10T>C
|
|
|
NM_198428.3(BBS9):c.1963-15A>G
|
|
|
NM_198428.3(BBS9):c.1963-18A>C
|
|
|
NM_198428.3(BBS9):c.1963-4G>A
|
|
|
NM_198428.3(BBS9):c.1963-6T>C
|
rs769047017
|
|
NM_198428.3(BBS9):c.1963-8C>A
|
|
|
NM_198428.3(BBS9):c.1966C>T (p.Arg656Trp)
|
|
|
NM_198428.3(BBS9):c.1968G>C (p.Arg656=)
|
|
|
NM_198428.3(BBS9):c.196G>A (p.Glu66Lys)
|
|
|
NM_198428.3(BBS9):c.198A>G (p.Glu66=)
|
|
|
NM_198428.3(BBS9):c.1992A>C (p.Glu664Asp)
|
rs2128756476
|
|
NM_198428.3(BBS9):c.1999_2003del (p.Ser667fs)
|
|
|
NM_198428.3(BBS9):c.19C>A (p.Arg7Ser)
|
|
|
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.2009C>T (p.Ala670Val)
|
|
|
NM_198428.3(BBS9):c.2016A>G (p.Gln672=)
|
rs2128756519
|
|
NM_198428.3(BBS9):c.201T>C (p.Asp67=)
|
|
|
NM_198428.3(BBS9):c.2021G>A (p.Arg674Gln)
|
|
|
NM_198428.3(BBS9):c.2023del (p.Ala675fs)
|
|
|
NM_198428.3(BBS9):c.2027T>C (p.Ile676Thr)
|
|
|
NM_198428.3(BBS9):c.2031A>G (p.Gln677=)
|
|
|
NM_198428.3(BBS9):c.2034C>T (p.Arg678=)
|
|
|
NM_198428.3(BBS9):c.2035C>T (p.Arg679Trp)
|
rs749841788
|
|
NM_198428.3(BBS9):c.2037G>A (p.Arg679=)
|
rs774728969
|
|
NM_198428.3(BBS9):c.206T>C (p.Leu69Pro)
|
rs771129780
|
|
NM_198428.3(BBS9):c.2070_2071delinsTA (p.Pro691Thr)
|
|
|
NM_198428.3(BBS9):c.207T>C (p.Leu69=)
|
|
|
NM_198428.3(BBS9):c.2080C>T (p.His694Tyr)
|
rs2128756856
|
|
NM_198428.3(BBS9):c.2082C>T (p.His694=)
|
|
|
NM_198428.3(BBS9):c.2094G>A (p.Leu698=)
|
|
|
NM_198428.3(BBS9):c.2097dup (p.Asp700fs)
|
rs2128756914
|
|
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>C (p.Arg7Pro)
|
rs746340993
|
|
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu)
|
rs746340993
|
|
NM_198428.3(BBS9):c.2100T>C (p.Asp700=)
|
rs1826369751
|
|
NM_198428.3(BBS9):c.2101G>A (p.Gly701Arg)
|
|
|
NM_198428.3(BBS9):c.2106C>G (p.Thr702=)
|
|
|
NM_198428.3(BBS9):c.2108A>G (p.Tyr703Cys)
|
|
|
NM_198428.3(BBS9):c.2115+12A>G
|
|
|
NM_198428.3(BBS9):c.2115+15A>C
|
|
|
NM_198428.3(BBS9):c.2115+17dup
|
rs1826376756
|
|
NM_198428.3(BBS9):c.2115+1G>A
|
rs886039801
|
|
NM_198428.3(BBS9):c.2115+20_2115+21del
|
|
|
NM_198428.3(BBS9):c.2115+9A>G
|
|
|
NM_198428.3(BBS9):c.2116-12dup
|
|
|
NM_198428.3(BBS9):c.2116-13G>C
|
|
|
NM_198428.3(BBS9):c.2116-15T>C
|
rs1846018417
|
|
NM_198428.3(BBS9):c.2116-17G>A
|
|
|
NM_198428.3(BBS9):c.2116-20G>T
|
|
|
NM_198428.3(BBS9):c.2120T>C (p.Ile707Thr)
|
|
|
NM_198428.3(BBS9):c.2134G>A (p.Ala712Thr)
|
|
|
NM_198428.3(BBS9):c.213A>G (p.Glu71=)
|
|
|
NM_198428.3(BBS9):c.214G>A (p.Val72Met)
|
rs765240871
|
|
NM_198428.3(BBS9):c.2169A>G (p.Ser723=)
|
|
|
NM_198428.3(BBS9):c.2179C>T (p.Leu727=)
|
rs373177157
|
|
NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn)
|
rs1393453305
|
|
NM_198428.3(BBS9):c.2190C>T (p.Ala730=)
|
|
|
NM_198428.3(BBS9):c.2193C>T (p.Thr731=)
|
|
|
NM_198428.3(BBS9):c.2217G>A (p.Ala739=)
|
rs749322793
|
|
NM_198428.3(BBS9):c.2217G>T (p.Ala739=)
|
rs749322793
|
|
NM_198428.3(BBS9):c.2223_2224delinsTT (p.Trp741_Gln742delinsCysTer)
|
|
|
NM_198428.3(BBS9):c.222A>G (p.Leu74=)
|
|
|
NM_198428.3(BBS9):c.2244G>A (p.Gln748=)
|
|
|
NM_198428.3(BBS9):c.2245G>C (p.Val749Leu)
|
rs1563271285
|
|
NM_198428.3(BBS9):c.2245_2260del (p.Val749fs)
|
|
|
NM_198428.3(BBS9):c.2247T>C (p.Val749=)
|
|
|
NM_198428.3(BBS9):c.2250T>C (p.Ala750=)
|
|
|
NM_198428.3(BBS9):c.2261C>T (p.Ala754Val)
|
|
|
NM_198428.3(BBS9):c.2262G>A (p.Ala754=)
|
rs751886707
|
|
NM_198428.3(BBS9):c.2271G>C (p.Leu757=)
|
rs2129016290
|
|
NM_198428.3(BBS9):c.2277A>G (p.Leu759=)
|
rs1052268884
|
|
NM_198428.3(BBS9):c.228T>C (p.Asp76=)
|
|
|
NM_198428.3(BBS9):c.2298+16C>T
|
|
|
NM_198428.3(BBS9):c.2298+5G>A
|
rs1846053369
|
|
NM_198428.3(BBS9):c.2298+8C>A
|
rs2129016313
|
|
NM_198428.3(BBS9):c.2299-12T>C
|
|
|
NM_198428.3(BBS9):c.2299-14G>C
|
|
|
NM_198428.3(BBS9):c.2299-19A>G
|
|
|
NM_198428.3(BBS9):c.2299-2A>C
|
|
|
NM_198428.3(BBS9):c.2299-4C>G
|
|
|
NM_198428.3(BBS9):c.2310A>G (p.Glu770=)
|
|
|
NM_198428.3(BBS9):c.2312C>T (p.Thr771Met)
|
|
|
NM_198428.3(BBS9):c.2331C>T (p.Ser777=)
|
|
|
NM_198428.3(BBS9):c.2337G>A (p.Leu779=)
|
rs2129059212
|
|
NM_198428.3(BBS9):c.2346T>C (p.Thr782=)
|
|
|
NM_198428.3(BBS9):c.2355G>A (p.Ser785=)
|
rs1403362656
|
|
NM_198428.3(BBS9):c.2355G>C (p.Ser785=)
|
rs1403362656
|
|
NM_198428.3(BBS9):c.2355G>T (p.Ser785=)
|
|
|
NM_198428.3(BBS9):c.2357_2359del (p.Lys786del)
|
|
|
NM_198428.3(BBS9):c.2358G>C (p.Lys786Asn)
|
|
|
NM_198428.3(BBS9):c.2368G>T (p.Glu790Ter)
|
|
|
NM_198428.3(BBS9):c.2370G>T (p.Glu790Asp)
|
|
|
NM_198428.3(BBS9):c.2376T>G (p.Ala792=)
|
|
|
NM_198428.3(BBS9):c.2385_2396del (p.Ser797_Asn800del)
|
|
|
NM_198428.3(BBS9):c.2388C>T (p.Asn796=)
|
|
|
NM_198428.3(BBS9):c.2391C>T (p.Ser797=)
|
|
|
NM_198428.3(BBS9):c.2397G>A (p.Leu799=)
|
|
|
NM_198428.3(BBS9):c.2412C>T (p.Asp804=)
|
|
|
NM_198428.3(BBS9):c.2421A>G (p.Gln807=)
|
|
|
NM_198428.3(BBS9):c.2439C>A (p.Thr813=)
|
|
|
NM_198428.3(BBS9):c.2445C>T (p.Leu815=)
|
|
|
NM_198428.3(BBS9):c.244del (p.Glu82fs)
|
rs2128108391
|
|
NM_198428.3(BBS9):c.2462A>C (p.Lys821Thr)
|
rs1851006563
|
|
NM_198428.3(BBS9):c.2463A>G (p.Lys821=)
|
|
|
NM_198428.3(BBS9):c.2481A>G (p.Leu827=)
|
|
|
NM_198428.3(BBS9):c.2487C>A (p.Thr829=)
|
|
|
NM_198428.3(BBS9):c.2489A>G (p.Asp830Gly)
|
|
|
NM_198428.3(BBS9):c.2494G>C (p.Ala832Pro)
|
|
|
NM_198428.3(BBS9):c.2499C>T (p.Ala833=)
|
rs1163398668
|
|
NM_198428.3(BBS9):c.249A>C (p.Val83=)
|
|
|
NM_198428.3(BBS9):c.2503_2504dup (p.Gln835fs)
|
|
|
NM_198428.3(BBS9):c.2505G>A (p.Gln835=)
|
|
|
NM_198428.3(BBS9):c.2511G>T (p.Met837Ile)
|
|
|
NM_198428.3(BBS9):c.2518C>T (p.Pro840Ser)
|
|
|
NM_198428.3(BBS9):c.251G>A (p.Gly84Glu)
|
rs766917697
|
|
NM_198428.3(BBS9):c.2521+11dup
|
|
|
NM_198428.3(BBS9):c.2521+16A>C
|
|
|
NM_198428.3(BBS9):c.2521+19C>G
|
|
|
NM_198428.3(BBS9):c.2521+1G>T
|
|
|
NM_198428.3(BBS9):c.2521+20T>C
|
|
|
NM_198428.3(BBS9):c.2522-13A>C
|
|
|
NM_198428.3(BBS9):c.2522-15G>C
|
|
|
NM_198428.3(BBS9):c.2522-3T>C
|
|
|
NM_198428.3(BBS9):c.2522-5A>G
|
rs2129207620
|
|
NM_198428.3(BBS9):c.2522-7C>A
|
|
|
NM_198428.3(BBS9):c.2522-7del
|
|
|
NM_198428.3(BBS9):c.2534C>G (p.Thr845Arg)
|
rs2129207675
|
|
NM_198428.3(BBS9):c.2536del (p.Ile846fs)
|
rs1864348159
|
|
NM_198428.3(BBS9):c.253A>C (p.Lys85Gln)
|
|
|
NM_198428.3(BBS9):c.2550C>T (p.Asp850=)
|
|
|
NM_198428.3(BBS9):c.2559_2562del (p.Glu853fs)
|
|
|
NM_198428.3(BBS9):c.2562A>G (p.Arg854=)
|
|
|
NM_198428.3(BBS9):c.2565A>G (p.Ser855=)
|
|
|
NM_198428.3(BBS9):c.2581A>T (p.Thr861Ser)
|
rs1864358642
|
|
NM_198428.3(BBS9):c.2588T>A (p.Leu863Gln)
|
|
|
NM_198428.3(BBS9):c.2591T>G (p.Phe864Cys)
|
rs1490049568
|
|
NM_198428.3(BBS9):c.2594C>T (p.Thr865Ile)
|
|
|
NM_198428.3(BBS9):c.259G>A (p.Val87Ile)
|
rs1255605179
|
|
NM_198428.3(BBS9):c.2604A>C (p.Arg868Ser)
|
|
|
NM_198428.3(BBS9):c.261T>G (p.Val87=)
|
rs2128108429
|
|
NM_198428.3(BBS9):c.2623C>A (p.Pro875Thr)
|
rs755911247
|
|
NM_198428.3(BBS9):c.2625C>T (p.Pro875=)
|
|
|
NM_198428.3(BBS9):c.2626A>C (p.Arg876=)
|
|
|
NM_198428.3(BBS9):c.2628G>A (p.Arg876=)
|
|
|
NM_198428.3(BBS9):c.263+13A>G
|
|
|
NM_198428.3(BBS9):c.263+16A>G
|
|
|
NM_198428.3(BBS9):c.263+1G>T
|
rs137962929
|
|
NM_198428.3(BBS9):c.263+4A>G
|
rs370916293
|
|
NM_198428.3(BBS9):c.2631del (p.Glu878fs)
|
rs1401159616
|
|
NM_198428.3(BBS9):c.2632+10del
|
|
|
NM_198428.3(BBS9):c.2632+13A>T
|
|
|
NM_198428.3(BBS9):c.2632+8A>C
|
|
|
NM_198428.3(BBS9):c.2633-11T>C
|
|
|
NM_198428.3(BBS9):c.2633-16C>T
|
|
|
NM_198428.3(BBS9):c.2633-16CT[2]
|
|
|
NM_198428.3(BBS9):c.2633-2A>G
|
rs1864417554
|
|
NM_198428.3(BBS9):c.2633-3C>G
|
rs1422030068
|
|
NM_198428.3(BBS9):c.2633-5T>C
|
|
|
NM_198428.3(BBS9):c.2633-5dup
|
rs761809109
|
|
NM_198428.3(BBS9):c.2633-6T>C
|
rs2129208551
|
|
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter)
|
rs749974697
|
|
NM_198428.3(BBS9):c.264-10T>C
|
|
|
NM_198428.3(BBS9):c.264-11C>G
|
|
|
NM_198428.3(BBS9):c.264-11_264-10del
|
|
|
NM_198428.3(BBS9):c.264-12T>G
|
|
|
NM_198428.3(BBS9):c.264-14T>C
|
|
|
NM_198428.3(BBS9):c.264-14T>G
|
rs759013829
|
|
NM_198428.3(BBS9):c.264-16T>G
|
|
|
NM_198428.3(BBS9):c.264-4T>C
|
|
|
NM_198428.3(BBS9):c.2642C>G (p.Pro881Arg)
|
|
|
NM_198428.3(BBS9):c.2642C>T (p.Pro881Leu)
|
|
|
NM_198428.3(BBS9):c.2643C>T (p.Pro881=)
|
rs2129208595
|
|
NM_198428.3(BBS9):c.2646C>T (p.Leu882=)
|
|
|
NM_198428.3(BBS9):c.2648A>G (p.Gln883Arg)
|
rs967703053
|
|
NM_198428.3(BBS9):c.279A>G (p.Leu93=)
|
|
|
NM_198428.3(BBS9):c.27G>A (p.Trp9Ter)
|
|
|
NM_198428.3(BBS9):c.27G>C (p.Trp9Cys)
|
|
|
NM_198428.3(BBS9):c.292_328+3delinsAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_198428.3(BBS9):c.310del (p.Cys104fs)
|
rs747388658
|
|
NM_198428.3(BBS9):c.315C>G (p.Val105=)
|
rs1051716854
|
|
NM_198428.3(BBS9):c.319dup (p.Ser107fs)
|
|
|
NM_198428.3(BBS9):c.321T>G (p.Ser107=)
|
rs2128114803
|
|
NM_198428.3(BBS9):c.324C>A (p.Val108=)
|
|
|
NM_198428.3(BBS9):c.328+11T>C
|
rs1793997816
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTNNNNNNNNNNAGACAACTGGTTAGCCAGGATGGTCTCGTTCGCGGGTACTCCAGATCCACCCGCCTCTGACTCCCAACGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCCAGAAATATTTTT
|
rs2128114877
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG
|
rs775674614
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
|
rs775674614
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTGAG
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC
|
rs775674614
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC
|
rs775674614
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
|
|
|
NM_198428.3(BBS9):c.328+16A>C
|
rs749205665
|
|
NM_198428.3(BBS9):c.328+16_328+27del
|
rs770155616
|
|
NM_198428.3(BBS9):c.328+20A>G
|
|
|
NM_198428.3(BBS9):c.328+7A>T
|
|
|
NM_198428.3(BBS9):c.329-13T>C
|
|
|
NM_198428.3(BBS9):c.329-19C>T
|
|
|
NM_198428.3(BBS9):c.329-19_329-17del
|
|
|
NM_198428.3(BBS9):c.329-5del
|
rs1797490601
|
|
NM_198428.3(BBS9):c.329-6C>T
|
rs1445078208
|
|
NM_198428.3(BBS9):c.329-7T>C
|
rs976567513
|
|
NM_198428.3(BBS9):c.329-7del
|
rs753552530
|
|
NM_198428.3(BBS9):c.329-7dup
|
rs753552530
|
|
NM_198428.3(BBS9):c.329-8T>C
|
|
|
NM_198428.3(BBS9):c.341A>G (p.Asn114Ser)
|
rs1797497751
|
|
NM_198428.3(BBS9):c.342T>C (p.Asn114=)
|
|
|
NM_198428.3(BBS9):c.349C>T (p.His117Tyr)
|
|
|
NM_198428.3(BBS9):c.358C>T (p.Gln120Ter)
|
|
|
NM_198428.3(BBS9):c.36T>C (p.Thr12=)
|
|
|
NM_198428.3(BBS9):c.377T>C (p.Met126Thr)
|
rs2128162902
|
|
NM_198428.3(BBS9):c.381T>C (p.Tyr127=)
|
|
|
NM_198428.3(BBS9):c.385C>T (p.His129Tyr)
|
rs886062284
|
|
NM_198428.3(BBS9):c.396G>A (p.Gln132=)
|
|
|
NM_198428.3(BBS9):c.396G>C (p.Gln132His)
|
rs10255104
|
|
NM_198428.3(BBS9):c.397A>C (p.Arg133=)
|
|
|
NM_198428.3(BBS9):c.402A>G (p.Thr134=)
|
rs2128163033
|
|
NM_198428.3(BBS9):c.408C>A (p.Cys136Ter)
|
|
|
NM_198428.3(BBS9):c.412A>G (p.Met138Val)
|
|
|
NM_198428.3(BBS9):c.417C>T (p.Thr139=)
|
|
|
NM_198428.3(BBS9):c.434del (p.Gly145fs)
|
|
|
NM_198428.3(BBS9):c.438A>T (p.Val146=)
|
|
|
NM_198428.3(BBS9):c.442+13dup
|
|
|
NM_198428.3(BBS9):c.442+16T>A
|
|
|
NM_198428.3(BBS9):c.442+19T>C
|
|
|
NM_198428.3(BBS9):c.442+7T>G
|
rs1470563544
|
|
NM_198428.3(BBS9):c.443-17C>A
|
|
|
NM_198428.3(BBS9):c.443-20T>C
|
|
|
NM_198428.3(BBS9):c.443-6_443-4del
|
|
|
NM_198428.3(BBS9):c.443-8T>C
|
|
|
NM_198428.3(BBS9):c.450T>A (p.Asp150Glu)
|
rs2128312333
|
|
NM_198428.3(BBS9):c.455T>C (p.Ile152Thr)
|
|
|
NM_198428.3(BBS9):c.456T>C (p.Ile152=)
|
|
|
NM_198428.3(BBS9):c.459C>A (p.Cys153Ter)
|
|
|
NM_198428.3(BBS9):c.459C>T (p.Cys153=)
|
|
|
NM_198428.3(BBS9):c.477G>C (p.Gly159=)
|
|
|
NM_198428.3(BBS9):c.485T>C (p.Met162Thr)
|
rs1797227483
|
|
NM_198428.3(BBS9):c.498G>A (p.Gln166=)
|
|
|
NM_198428.3(BBS9):c.49_51del (p.Lys17del)
|
rs1562672388
|
|
NM_198428.3(BBS9):c.509C>A (p.Ala170Asp)
|
|
|
NM_198428.3(BBS9):c.525C>T (p.Leu175=)
|
|
|
NM_198428.3(BBS9):c.527C>G (p.Pro176Arg)
|
|
|
NM_198428.3(BBS9):c.528T>C (p.Pro176=)
|
|
|
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.540G>A (p.Leu180=)
|
|
|
NM_198428.3(BBS9):c.540G>T (p.Leu180=)
|
|
|
NM_198428.3(BBS9):c.544G>T (p.Gly182Cys)
|
rs946999139
|
|
NM_198428.3(BBS9):c.548C>T (p.Pro183Leu)
|
|
|
NM_198428.3(BBS9):c.555C>G (p.Ala185=)
|
rs35440033
|
|
NM_198428.3(BBS9):c.563C>T (p.Ser188Phe)
|
rs2128312652
|
|
NM_198428.3(BBS9):c.564C>T (p.Ser188=)
|
|
|
NM_198428.3(BBS9):c.570A>G (p.Thr190=)
|
|
|
NM_198428.3(BBS9):c.579C>T (p.Phe193=)
|
|
|
NM_198428.3(BBS9):c.580C>T (p.Leu194Phe)
|
rs1797251379
|
|
NM_198428.3(BBS9):c.594C>T (p.Ser198=)
|
|
|
NM_198428.3(BBS9):c.606G>A (p.Val202=)
|
|
|
NM_198428.3(BBS9):c.60T>A (p.Phe20Leu)
|
|
|
NM_198428.3(BBS9):c.614A>T (p.Tyr205Phe)
|
|
|
NM_198428.3(BBS9):c.617+11A>T
|
|
|
NM_198428.3(BBS9):c.617+13G>A
|
|
|
NM_198428.3(BBS9):c.617+17A>C
|
|
|
NM_198428.3(BBS9):c.617+7T>C
|
|
|
NM_198428.3(BBS9):c.618-14T>C
|
|
|
NM_198428.3(BBS9):c.618-17A>T
|
|
|
NM_198428.3(BBS9):c.618-18T>A
|
|
|
NM_198428.3(BBS9):c.618-3C>G
|
rs1460288162
|
|
NM_198428.3(BBS9):c.618-4A>G
|
|
|
NM_198428.3(BBS9):c.61G>C (p.Asp21His)
|
|
|
NM_198428.3(BBS9):c.624G>A (p.Gln208=)
|
|
|
NM_198428.3(BBS9):c.625G>T (p.Val209Leu)
|
|
|
NM_198428.3(BBS9):c.628C>A (p.Leu210Ile)
|
|
|
NM_198428.3(BBS9):c.644A>T (p.Asp215Val)
|
|
|
NM_198428.3(BBS9):c.657G>T (p.Arg219Ser)
|
rs1307359911
|
|
NM_198428.3(BBS9):c.660G>A (p.Gln220=)
|
|
|
NM_198428.3(BBS9):c.660_674del (p.Glu221_Gln225del)
|
rs1562901016
|
|
NM_198428.3(BBS9):c.663G>A (p.Glu221=)
|
|
|
NM_198428.3(BBS9):c.675A>G (p.Gln225=)
|
|
|
NM_198428.3(BBS9):c.677A>C (p.Lys226Thr)
|
rs1562901214
|
|
NM_198428.3(BBS9):c.681T>C (p.Leu227=)
|
|
|
NM_198428.3(BBS9):c.687T>G (p.Ser229=)
|
|
|
NM_198428.3(BBS9):c.688G>A (p.Gly230Arg)
|
rs1798450904
|
|
NM_198428.3(BBS9):c.692A>T (p.Lys231Ile)
|
|
|
NM_198428.3(BBS9):c.699A>C (p.Leu233=)
|
rs1326295377
|
|
NM_198428.3(BBS9):c.702+10T>C
|
|
|
NM_198428.3(BBS9):c.702+13T>C
|
|
|
NM_198428.3(BBS9):c.702+15dup
|
rs756949696
|
|
NM_198428.3(BBS9):c.702+16A>G
|
|
|
NM_198428.3(BBS9):c.702+18T>C
|
|
|
NM_198428.3(BBS9):c.702+1G>T
|
|
|
NM_198428.3(BBS9):c.702+20T>C
|
rs756668480
|
|
NM_198428.3(BBS9):c.702T>A (p.Val234=)
|
rs1373479665
|
|
NM_198428.3(BBS9):c.703-14G>A
|
|
|
NM_198428.3(BBS9):c.703-17T>C
|
|
|
NM_198428.3(BBS9):c.703-18T>C
|
|
|
NM_198428.3(BBS9):c.703-19A>G
|
|
|
NM_198428.3(BBS9):c.703-2A>G
|
|
|
NM_198428.3(BBS9):c.705G>A (p.Val235=)
|
|
|
NM_198428.3(BBS9):c.71G>A (p.Cys24Tyr)
|
rs1792335317
|
|
NM_198428.3(BBS9):c.742A>C (p.Ile248Leu)
|
rs577724923
|
|
NM_198428.3(BBS9):c.745T>C (p.Cys249Arg)
|
|
|
NM_198428.3(BBS9):c.746G>A (p.Cys249Tyr)
|
rs772441123
|
|
NM_198428.3(BBS9):c.751dup (p.Val251fs)
|
rs2128344662
|
|
NM_198428.3(BBS9):c.753C>T (p.Val251=)
|
rs2128344695
|
|
NM_198428.3(BBS9):c.754del (p.Ser252fs)
|
rs2128344706
|
|
NM_198428.3(BBS9):c.755C>T (p.Ser252Phe)
|
|
|
NM_198428.3(BBS9):c.763C>T (p.Gln255Ter)
|
|
|
NM_198428.3(BBS9):c.767C>G (p.Ser256Trp)
|
rs149790873
|
|
NM_198428.3(BBS9):c.768G>A (p.Ser256=)
|
|
|
NM_198428.3(BBS9):c.778G>A (p.Val260Ile)
|
rs149093988
|
|
NM_198428.3(BBS9):c.778G>T (p.Val260Phe)
|
rs149093988
|
|
NM_198428.3(BBS9):c.786T>A (p.Val262=)
|
|
|
NM_198428.3(BBS9):c.801_803del (p.Phe269del)
|
rs780367770
|
|
NM_198428.3(BBS9):c.802T>A (p.Phe268Ile)
|
rs939805930
|
|
NM_198428.3(BBS9):c.808dup (p.Cys270fs)
|
|
|
NM_198428.3(BBS9):c.825A>G (p.Gly275=)
|
|
|
NM_198428.3(BBS9):c.828A>G (p.Gln276=)
|
|
|
NM_198428.3(BBS9):c.829del (p.Ile277fs)
|
|
|
NM_198428.3(BBS9):c.831T>G (p.Ile277Met)
|
rs1800123284
|
|
NM_198428.3(BBS9):c.834A>G (p.Arg278=)
|
|
|
NM_198428.3(BBS9):c.839dup (p.Met280fs)
|
|
|
NM_198428.3(BBS9):c.83C>T (p.Ala28Val)
|
rs1792337794
|
|
NM_198428.3(BBS9):c.850G>T (p.Asp284Tyr)
|
rs1800127011
|
|
NM_198428.3(BBS9):c.852T>C (p.Asp284=)
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rs2128345148
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NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer)
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rs2128345173
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NM_198428.3(BBS9):c.858C>G (p.Ser286Arg)
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NM_198428.3(BBS9):c.858C>T (p.Ser286=)
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NM_198428.3(BBS9):c.861A>C (p.Pro287=)
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NM_198428.3(BBS9):c.861A>G (p.Pro287=)
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NM_198428.3(BBS9):c.863G>C (p.Ser288Thr)
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rs2128345247
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NM_198428.3(BBS9):c.886+11A>G
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NM_198428.3(BBS9):c.886+11dup
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rs2128345419
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NM_198428.3(BBS9):c.886+12G>A
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NM_198428.3(BBS9):c.886+12G>T
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NM_198428.3(BBS9):c.886+17del
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rs774382014
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NM_198428.3(BBS9):c.886+19T>C
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NM_198428.3(BBS9):c.886+4T>A
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rs542391272
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NM_198428.3(BBS9):c.886+7A>G
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|
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NM_198428.3(BBS9):c.886+7_886+8insAAA
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rs768793235
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NM_198428.3(BBS9):c.886+8G>A
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rs745781708
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NM_198428.3(BBS9):c.886+9A>G
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|
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NM_198428.3(BBS9):c.887-15A>C
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NM_198428.3(BBS9):c.887-16T>C
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NM_198428.3(BBS9):c.887-17G>A
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NM_198428.3(BBS9):c.936G>A (p.Leu312=)
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NM_198428.3(BBS9):c.936G>T (p.Leu312=)
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NM_198428.3(BBS9):c.938A>C (p.His313Pro)
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rs533714503
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NM_198428.3(BBS9):c.940A>G (p.Ile314Val)
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|
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NM_198428.3(BBS9):c.948A>G (p.Gln316=)
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|
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NM_198428.3(BBS9):c.957A>G (p.Thr319=)
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|
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NM_198428.3(BBS9):c.962A>G (p.Lys321Arg)
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|
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NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
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NM_198428.3(BBS9):c.969C>T (p.Ala323=)
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NM_198428.3(BBS9):c.990T>C (p.Pro330=)
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NM_198428.3(BBS9):c.9A>G (p.Leu3=)
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Single allele
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