ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Invitae

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ClinVar version:
Total variants: 6754
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HGVS dbSNP gnomAD frequency
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
NM_033028.5(BBS4):c.1456G>A (p.Gly486Arg)
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=)
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
NM_033028.5(BBS4):c.156+12C>T
NM_033028.5(BBS4):c.156+14A>G
NM_033028.5(BBS4):c.156+4A>G
NM_033028.5(BBS4):c.156+9T>C rs749530632
NM_033028.5(BBS4):c.157-12T>G
NM_033028.5(BBS4):c.157-13C>T
NM_033028.5(BBS4):c.157-15T>G
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
NM_033028.5(BBS4):c.157-6T>C
NM_033028.5(BBS4):c.157-9C>G
NM_033028.5(BBS4):c.157-9C>T
NM_033028.5(BBS4):c.16G>A (p.Val6Ile)
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=)
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
NM_033028.5(BBS4):c.221-20T>C
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=)
NM_033028.5(BBS4):c.24+11A>T
NM_033028.5(BBS4):c.24+16C>T
NM_033028.5(BBS4):c.24+17T>C
NM_033028.5(BBS4):c.24+18C>T
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
NM_033028.5(BBS4):c.24+8C>A
NM_033028.5(BBS4):c.24+9C>T
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
NM_033028.5(BBS4):c.333-9C>A
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=) rs2128345148
NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer) rs2128345173
NM_198428.3(BBS9):c.858C>G (p.Ser286Arg)
NM_198428.3(BBS9):c.858C>T (p.Ser286=)
NM_198428.3(BBS9):c.861A>C (p.Pro287=)
NM_198428.3(BBS9):c.861A>G (p.Pro287=)
NM_198428.3(BBS9):c.863G>C (p.Ser288Thr) rs2128345247
NM_198428.3(BBS9):c.886+11A>G
NM_198428.3(BBS9):c.886+11dup rs2128345419
NM_198428.3(BBS9):c.886+12G>A
NM_198428.3(BBS9):c.886+12G>T
NM_198428.3(BBS9):c.886+17del rs774382014
NM_198428.3(BBS9):c.886+19T>C
NM_198428.3(BBS9):c.886+4T>A rs542391272
NM_198428.3(BBS9):c.886+7A>G
NM_198428.3(BBS9):c.886+7_886+8insAAA rs768793235
NM_198428.3(BBS9):c.886+8G>A rs745781708
NM_198428.3(BBS9):c.886+9A>G
NM_198428.3(BBS9):c.887-15A>C
NM_198428.3(BBS9):c.887-16T>C
NM_198428.3(BBS9):c.887-17G>A
NM_198428.3(BBS9):c.936G>A (p.Leu312=)
NM_198428.3(BBS9):c.936G>T (p.Leu312=)
NM_198428.3(BBS9):c.938A>C (p.His313Pro) rs533714503
NM_198428.3(BBS9):c.940A>G (p.Ile314Val)
NM_198428.3(BBS9):c.948A>G (p.Gln316=)
NM_198428.3(BBS9):c.957A>G (p.Thr319=)
NM_198428.3(BBS9):c.962A>G (p.Lys321Arg)
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
NM_198428.3(BBS9):c.969C>T (p.Ala323=)
NM_198428.3(BBS9):c.990T>C (p.Pro330=)
NM_198428.3(BBS9):c.9A>G (p.Leu3=)
Single allele

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