ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3207
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HGVS dbSNP gnomAD frequency
NM_031885.3(BBS2):c.-239G>A rs2303284 0.19980
NM_152618.3(BBS12):c.*187dup rs386401352 0.19865
NM_015910.6(WDPCP):c.-396T>G rs2278718 0.19689
NM_001178007.1(BBS12):c.-391C>T rs28642232 0.06726
NM_001278293.3(ARL6):c.-240C>T rs116162146 0.01233
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser) rs139392523 0.00230
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_015910.7(WDPCP):c.385C>G (p.Leu129Val) rs191796211 0.00202
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_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322 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_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981 0.00118
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527 0.00088
NM_031885.5(BBS2):c.1380C>T (p.Phe460=) rs141046144 0.00086
NM_024649.5(BBS1):c.724-16C>T rs141332689 0.00081
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446 0.00081
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_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_031885.5(BBS2):c.126T>G (p.Ile42Met) rs139945733 0.00061
NM_144596.4(TTC8):c.910-16T>G rs199763558 0.00053
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526 0.00053
NM_012210.4(TRIM32):c.276C>T (p.Ser92=) rs140589523 0.00051
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00049
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_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.957T>C (p.Val319=) rs139645096 0.00039
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_031885.5(BBS2):c.1797+12C>T rs370960689 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.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_031885.5(BBS2):c.1238G>A (p.Arg413Gln) rs141683908 0.00031
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811 0.00031
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227 0.00029
NM_015910.7(WDPCP):c.252G>T (p.Glu84Asp) rs201399904 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_198428.3(BBS9):c.621C>T (p.Tyr207=) rs140169161 0.00026
NM_015910.7(WDPCP):c.826-13T>C rs368439537 0.00024
NM_031885.5(BBS2):c.1104C>T (p.Asn368=) rs141731677 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_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_015910.7(WDPCP):c.75+13C>T rs182759221 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_033028.5(BBS4):c.1107-11G>C rs373344695 0.00020
NM_024649.5(BBS1):c.360C>T (p.Pro120=) rs373756451 0.00019
NM_198428.3(BBS9):c.886+14T>G rs368019366 0.00019
NM_031885.5(BBS2):c.471+17A>G rs200587401 0.00018
NM_152384.3(BBS5):c.468A>G (p.Pro156=) rs200636409 0.00017
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_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193 0.00016
NM_024685.4(BBS10):c.1923C>T (p.Pro641=) rs201449351 0.00015
NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr) rs200378703 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_015910.7(WDPCP):c.1435+19T>C rs367947125 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_176824.3(BBS7):c.123T>C (p.Asp41=) rs148011561 0.00013
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.330T>C (p.Pro110=) rs760469814 0.00012
NM_024685.4(BBS10):c.27G>T (p.Gly9=) rs370213920 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_012210.4(TRIM32):c.330A>G (p.Gln110=) rs770015462 0.00011
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser) rs200997003 0.00011
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482 0.00011
NM_152384.3(BBS5):c.209-19C>A rs564695479 0.00011
NM_176824.3(BBS7):c.718+9T>C rs374523374 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_015910.7(WDPCP):c.868C>T (p.Arg290Cys) rs374934704 0.00010
NM_024649.5(BBS1):c.479+20T>C rs756451521 0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_031885.5(BBS2):c.642C>T (p.Gly214=) rs141563594 0.00010
NM_152384.3(BBS5):c.861T>C (p.Asp287=) rs1321191223 0.00010
NM_176824.3(BBS7):c.1511+19C>A rs201524145 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_012210.4(TRIM32):c.1040A>T (p.Glu347Val) rs749760133 0.00009
NM_012210.4(TRIM32):c.366C>G (p.Pro122=) rs137947083 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.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_031885.5(BBS2):c.612+18G>A rs200364314 0.00009
NM_031885.5(BBS2):c.870C>T (p.Ala290=) rs750516217 0.00009
NM_144596.4(TTC8):c.1432-16C>T rs373971173 0.00009
NM_152618.3(BBS12):c.1467A>G (p.Ala489=) rs148850607 0.00009
NM_012210.4(TRIM32):c.27G>C (p.Leu9=) rs201891227 0.00008
NM_024649.5(BBS1):c.234C>T (p.Thr78=) rs748732460 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.1528-15G>T rs368282063 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_152384.3(BBS5):c.523-18C>T rs201051397 0.00008
NM_152384.3(BBS5):c.60-3T>C rs201553380 0.00008
NM_152618.3(BBS12):c.1185G>A (p.Leu395=) rs377611257 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.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_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_152384.3(BBS5):c.143-11T>C rs773551745 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.2241C>T (p.Asp747=) rs144089673 0.00007
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.987G>A (p.Pro329=) rs760513760 0.00006
NM_015910.7(WDPCP):c.254-16A>C rs373967536 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.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.429T>C (p.Gly143=) rs146587757 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 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_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.639A>G (p.Leu213=) rs149663241 0.00006
NM_033028.5(BBS4):c.643-6T>C rs753675755 0.00006
NM_152384.3(BBS5):c.516T>C (p.Ser172=) rs758562179 0.00006
NM_152618.3(BBS12):c.1323G>A (p.Val441=) rs766332688 0.00006
NM_152618.3(BBS12):c.882T>C (p.Tyr294=) rs766149148 0.00006
NM_176824.3(BBS7):c.1231-16T>C rs781657811 0.00006
NM_176824.3(BBS7):c.1890+19G>A rs779382577 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.2521+16A>G rs781066901 0.00006
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=) rs141965401 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.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.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.1773G>A (p.Ala591=) rs147783319 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.837C>T (p.Val279=) rs748579225 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.171G>A (p.Ala57=) rs776886643 0.00005
NM_144596.4(TTC8):c.357T>C (p.Ile119=) rs567203939 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_012210.4(TRIM32):c.1134C>T (p.Tyr378=) rs776448126 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.339G>C (p.Arg113=) rs150477945 0.00004
NM_012210.4(TRIM32):c.501G>A (p.Lys167=) rs200085883 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.1474-14C>T rs369972079 0.00004
NM_024649.5(BBS1):c.159+14C>T rs758468091 0.00004
NM_024649.5(BBS1):c.432+13C>T rs759287238 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.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_024685.4(BBS10):c.1412A>T (p.Asp471Val) rs200718870 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.197+13C>G rs758349250 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.1527+13C>T rs756219595 0.00004
NM_031885.5(BBS2):c.531A>G (p.Lys177=) rs558360994 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.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_144596.4(TTC8):c.1431+12C>T rs201053086 0.00004
NM_152384.3(BBS5):c.208+15T>C rs1019098515 0.00004
NM_152384.3(BBS5):c.480A>G (p.Val160=) rs779349158 0.00004
NM_152384.3(BBS5):c.693T>C (p.Tyr231=) rs150178711 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.1995T>C (p.Val665=) rs771980986 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.60A>G (p.Ser20=) rs759975718 0.00004
NM_152618.3(BBS12):c.69G>A (p.Ala23=) rs138579304 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.865G>A (p.Val289Ile) rs200770952 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.1611A>C (p.Pro537=) rs140411078 0.00004
NM_198428.3(BBS9):c.600A>G (p.Gln200=) rs764060515 0.00004
NM_198428.3(BBS9):c.715C>T (p.Leu239=) rs751112173 0.00004
NM_012210.4(TRIM32):c.1191C>G (p.Val397=) rs757752867 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.33C>T (p.Ser11=) rs557213834 0.00003
NM_015910.7(WDPCP):c.633+19A>G rs766935204 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.1371C>T (p.Tyr457=) rs781014949 0.00003
NM_024649.5(BBS1):c.1485T>C (p.Leu495=) rs373894194 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_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.198-19T>A rs368334772 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_031885.5(BBS2):c.117+10C>T rs376041093 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.1878C>T (p.Val626=) rs555264290 0.00003
NM_031885.5(BBS2):c.1890T>C (p.Asp630=) rs1176715641 0.00003
NM_031885.5(BBS2):c.1950T>C (p.Leu650=) rs752978565 0.00003
NM_031885.5(BBS2):c.2059+15A>G rs571449292 0.00003
NM_031885.5(BBS2):c.612+17C>T rs745726316 0.00003
NM_031885.5(BBS2):c.717+16C>A rs752825833 0.00003
NM_033028.5(BBS4):c.1270T>C (p.Leu424=) rs376011637 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_144596.4(TTC8):c.1328G>A (p.Arg443Gln) rs746920262 0.00003
NM_144596.4(TTC8):c.54G>A (p.Arg18=) rs745942356 0.00003
NM_152384.3(BBS5):c.600T>C (p.Ser200=) rs1229922724 0.00003
NM_152618.3(BBS12):c.1197C>T (p.His399=) rs764483162 0.00003
NM_152618.3(BBS12):c.1608C>T (p.Phe536=) rs148277417 0.00003
NM_176824.3(BBS7):c.1512-12A>G rs369411905 0.00003
NM_176824.3(BBS7):c.192G>A (p.Pro64=) rs775906320 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_198428.3(BBS9):c.1377C>T (p.Val459=) rs763552337 0.00003
NM_198428.3(BBS9):c.1553-11T>C rs756802547 0.00003
NM_198428.3(BBS9):c.2487C>T (p.Thr829=) rs746373450 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.1140C>T (p.Thr380=) rs142715198 0.00002
NM_012210.4(TRIM32):c.1530A>G (p.Leu510=) rs145728860 0.00002
NM_012210.4(TRIM32):c.1728C>T (p.Arg576=) rs774825642 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.321G>T (p.Leu107=) rs768844180 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.807G>A (p.Leu269=) rs1184553729 0.00002
NM_012210.4(TRIM32):c.978C>T (p.Asp326=) rs759707001 0.00002
NM_015910.7(WDPCP):c.1671A>G (p.Pro557=) rs202162023 0.00002
NM_015910.7(WDPCP):c.209-5A>G rs750564657 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.771T>A (p.Ser257=) rs764847886 0.00002
NM_015910.7(WDPCP):c.801G>T (p.Leu267=) rs773061700 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.1533C>G (p.Thr511=) rs112953332 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.1695+9C>T rs756514477 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.47+7G>C rs370342126 0.00002
NM_024649.5(BBS1):c.48-8A>G rs753125999 0.00002
NM_024649.5(BBS1):c.606C>T (p.Thr202=) rs372141621 0.00002
NM_024649.5(BBS1):c.724-15G>A rs376386231 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.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.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.198-10T>C rs376497190 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.861A>G (p.Gln287=) rs753223078 0.00002
NM_031885.5(BBS2):c.1225+17A>G rs1444102830 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.1851T>C (p.His617=) rs1259765246 0.00002
NM_031885.5(BBS2):c.1910+9T>G rs751604858 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.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.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_033028.5(BBS4):c.12G>A (p.Glu4=) rs543735239 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.25-18C>T rs140934493 0.00002
NM_033028.5(BBS4):c.282A>G (p.Ala94=) rs370868102 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.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_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.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.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.1830A>G (p.Ser610=) rs528535207 0.00002
NM_152618.3(BBS12):c.1845C>G (p.Ala615=) rs773424236 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.879A>G (p.Gln293=) rs981575853 0.00002
NM_176824.3(BBS7):c.1191C>T (p.Ile397=) rs144483021 0.00002
NM_176824.3(BBS7):c.1305+13A>G rs773872987 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.718+12A>G rs774687060 0.00002
NM_198428.3(BBS9):c.102A>T (p.Gly34=) rs753601080 0.00002
NM_198428.3(BBS9):c.1553-17T>A rs1297146159 0.00002
NM_198428.3(BBS9):c.2445C>G (p.Leu815=) rs758338410 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_012210.4(TRIM32):c.114C>T (p.His38=) rs761012752 0.00001
NM_012210.4(TRIM32):c.1161C>T (p.Val387=) rs751224092 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.1326T>A (p.Ile442=) rs1372713940 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.1578C>T (p.Thr526=) rs778620127 0.00001
NM_012210.4(TRIM32):c.15A>C (p.Ala5=) rs1435764832 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.375G>A (p.Glu125=) rs780765510 0.00001
NM_012210.4(TRIM32):c.474A>G (p.Glu158=) rs955416816 0.00001
NM_012210.4(TRIM32):c.555C>G (p.Leu185=) rs757526804 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.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.795C>G (p.Leu265=) rs756049046 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.90G>A (p.Glu30=) rs534259071 0.00001
NM_012210.4(TRIM32):c.948C>T (p.Ala316=) rs1351064837 0.00001
NM_012210.4(TRIM32):c.99T>C (p.Arg33=) rs1057202035 0.00001
NM_015910.7(WDPCP):c.1095A>G (p.Glu365=) rs1475351110 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.1242A>G (p.Gln414=) rs774367862 0.00001
NM_015910.7(WDPCP):c.1296T>C (p.Phe432=) rs752670896 0.00001
NM_015910.7(WDPCP):c.1436-18T>G rs1481284633 0.00001
NM_015910.7(WDPCP):c.1587C>T (p.Asn529=) rs763698807 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.1916-14A>T rs1198215632 0.00001
NM_015910.7(WDPCP):c.1941G>A (p.Gly647=) rs765502945 0.00001
NM_015910.7(WDPCP):c.198A>G (p.Lys66=) rs1259050276 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.2169G>C (p.Leu723=) rs746225322 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.255A>G (p.Ser85=) rs1252079324 0.00001
NM_015910.7(WDPCP):c.282C>T (p.Asn94=) rs1700479284 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.325-17T>C rs542348306 0.00001
NM_015910.7(WDPCP):c.45G>C (p.Gly15=) rs1003414023 0.00001
NM_015910.7(WDPCP):c.606G>A (p.Leu202=) rs1400511137 0.00001
NM_015910.7(WDPCP):c.654C>T (p.Pro218=) rs375737055 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_024649.5(BBS1):c.1006C>T (p.Leu336=) rs765494351 0.00001
NM_024649.5(BBS1):c.1111-12G>A rs774638549 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.1181-14G>C rs747049051 0.00001
NM_024649.5(BBS1):c.1181-6C>T rs368445790 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.1266C>T (p.Ala422=) rs775519437 0.00001
NM_024649.5(BBS1):c.1302C>T (p.Tyr434=) rs1417786271 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.1437C>T (p.Ser479=) rs1856697260 0.00001
NM_024649.5(BBS1):c.1440G>A (p.Thr480=) rs751466006 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.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.1615T>C (p.Leu539=) rs1727051374 0.00001
NM_024649.5(BBS1):c.1626A>G (p.Pro542=) rs780444865 0.00001
NM_024649.5(BBS1):c.1671C>T (p.Asn557=) rs1179878578 0.00001
NM_024649.5(BBS1):c.1696-9C>T rs1363840770 0.00001
NM_024649.5(BBS1):c.1743C>T (p.His581=) rs61890368 0.00001
NM_024649.5(BBS1):c.1776C>T (p.Ala592=) rs1489468740 0.00001
NM_024649.5(BBS1):c.18A>G (p.Ser6=) rs758441011 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.432+17G>C rs752185178 0.00001
NM_024649.5(BBS1):c.433-20C>G rs186822905 0.00001
NM_024649.5(BBS1):c.441C>T (p.Ile147=) rs544997496 0.00001
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657 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.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.636C>T (p.Asp212=) rs775900681 0.00001
NM_024649.5(BBS1):c.699C>T (p.Pro233=) rs777250313 0.00001
NM_024649.5(BBS1):c.70T>C (p.Leu24=) rs747891096 0.00001
NM_024649.5(BBS1):c.723+7G>A rs770220426 0.00001
NM_024649.5(BBS1):c.771T>C (p.Phe257=) rs367686869 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.849G>A (p.Lys283=) rs1208056864 0.00001
NM_024649.5(BBS1):c.867C>T (p.Ser289=) rs776322401 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.952-20C>T rs1189838889 0.00001
NM_024685.4(BBS10):c.1134C>T (p.Ser378=) rs764371181 0.00001
NM_024685.4(BBS10):c.1197T>C (p.Leu399=) rs974452621 0.00001
NM_024685.4(BBS10):c.1218C>G (p.Leu406=) rs758194221 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.1593C>T (p.Asn531=) rs780123311 0.00001
NM_024685.4(BBS10):c.1776A>G (p.Ser592=) rs549089224 0.00001
NM_024685.4(BBS10):c.1866T>C (p.His622=) rs1167846126 0.00001
NM_024685.4(BBS10):c.1959C>T (p.Ser653=) rs764088306 0.00001
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=) rs376613074 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.2070A>G (p.Ser690=) rs750972045 0.00001
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253 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.237A>G (p.Thr79=) rs774437650 0.00001
NM_024685.4(BBS10):c.270T>G (p.Leu90=) rs200390697 0.00001
NM_024685.4(BBS10):c.393G>A (p.Gln131=) rs369066076 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.607A>G (p.Thr203Ala) rs753138845 0.00001
NM_024685.4(BBS10):c.630A>T (p.Val210=) rs759791957 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.6A>G (p.Leu2=) rs1333383849 0.00001
NM_024685.4(BBS10):c.753A>G (p.Ala251=) rs766065990 0.00001
NM_024685.4(BBS10):c.783A>G (p.Thr261=) rs768475584 0.00001
NM_024685.4(BBS10):c.840A>G (p.Glu280=) rs751973161 0.00001
NM_024685.4(BBS10):c.942A>G (p.Lys314=) rs748249273 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+7G>A rs1161249297 0.00001
NM_031885.5(BBS2):c.1092C>A (p.Ala364=) rs1394766615 0.00001
NM_031885.5(BBS2):c.1155C>G (p.Thr385=) rs749121755 0.00001
NM_031885.5(BBS2):c.117+17G>T rs201119943 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.1257A>G (p.Ala419=) rs747607168 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.1437T>C (p.Pro479=) rs747415803 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.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.1777T>C (p.Leu593=) rs767778599 0.00001
NM_031885.5(BBS2):c.1798-8G>T rs370273510 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.1989C>T (p.Asn663=) rs373278876 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.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.408G>A (p.Ala136=) rs771554929 0.00001
NM_031885.5(BBS2):c.42C>T (p.Ile14=) rs764339260 0.00001
NM_031885.5(BBS2):c.483C>T (p.Asp161=) rs375074141 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.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.66G>T (p.Gly22=) rs1348539618 0.00001
NM_031885.5(BBS2):c.717+16C>T rs752825833 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.945G>A (p.Arg315=) rs2288057 0.00001
NM_031885.5(BBS2):c.963G>A (p.Thr321=) rs748014865 0.00001
NM_033028.5(BBS4):c.1029C>T (p.Leu343=) rs1000977139 0.00001
NM_033028.5(BBS4):c.1107-19G>C rs763043698 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.1249-12T>C rs759275107 0.00001
NM_033028.5(BBS4):c.1450+10T>C rs886042845 0.00001
NM_033028.5(BBS4):c.1512G>A (p.Ala504=) rs369958857 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.332+8T>C rs1456405256 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.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.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.684A>C (p.Ala228=) rs35132058 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.777C>T (p.Tyr259=) rs200469783 0.00001
NM_033028.5(BBS4):c.825C>T (p.Asn275=) rs1439728758 0.00001
NM_033028.5(BBS4):c.864+9C>T rs775416661 0.00001
NM_033028.5(BBS4):c.987G>A (p.Ala329=) rs1296549307 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.1257C>T (p.Cys419=) rs1304915093 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.1353G>A (p.Arg451=) rs2094951123 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.22C>T (p.Leu8=) rs139659023 0.00001
NM_144596.4(TTC8):c.266-5C>G rs982758929 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.399C>A (p.Gly133=) rs766975286 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.711-16A>C rs747396066 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.987C>T (p.Ile329=) rs1024139303 0.00001
NM_152384.3(BBS5):c.18G>C (p.Ala6=) rs202051938 0.00001
NM_152384.3(BBS5):c.276T>C (p.Thr92=) rs775970045 0.00001
NM_152384.3(BBS5):c.386+16A>G rs1454698956 0.00001
NM_152384.3(BBS5):c.523-11G>A rs756035013 0.00001
NM_152384.3(BBS5):c.633T>C (p.Ile211=) rs1245371466 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.888G>A (p.Thr296=) rs777702222 0.00001
NM_152618.3(BBS12):c.1011T>C (p.Val337=) rs762298486 0.00001
NM_152618.3(BBS12):c.1074C>T (p.Leu358=) rs1162225747 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.1299A>G (p.Val433=) rs764582469 0.00001
NM_152618.3(BBS12):c.1302C>T (p.Ile434=) rs773214415 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.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.1590A>G (p.Leu530=) rs886059059 0.00001
NM_152618.3(BBS12):c.1623A>T (p.Ala541=) rs368003653 0.00001
NM_152618.3(BBS12):c.1809A>G (p.Leu603=) rs141393809 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.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.2115G>T (p.Thr705=) rs1578492538 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.438A>G (p.Thr146=) rs747471347 0.00001
NM_152618.3(BBS12):c.495A>G (p.Ser165=) rs973455617 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.765T>C (p.His255=) rs185341959 0.00001
NM_152618.3(BBS12):c.789C>T (p.Tyr263=) rs974173261 0.00001
NM_152618.3(BBS12):c.802T>C (p.Leu268=) rs771195621 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.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.1371+14A>C rs1725624096 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.1725C>T (p.Ile575=) rs938747332 0.00001
NM_176824.3(BBS7):c.189G>T (p.Gly63=) rs541833400 0.00001
NM_176824.3(BBS7):c.1917G>A (p.Thr639=) rs770239209 0.00001
NM_176824.3(BBS7):c.1989A>G (p.Gln663=) rs753795840 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.286A>C (p.Arg96=) rs754438760 0.00001
NM_176824.3(BBS7):c.651G>A (p.Ala217=) rs750691939 0.00001
NM_176824.3(BBS7):c.849+18G>T rs1423156185 0.00001
NM_176824.3(BBS7):c.876C>A (p.Ile292=) rs369319119 0.00001
NM_176824.3(BBS7):c.915C>T (p.Ile305=) rs776811172 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.1056T>A (p.Gly352=) rs1815379840 0.00001
NM_198428.3(BBS9):c.112+13C>A rs1562672800 0.00001
NM_198428.3(BBS9):c.1287T>C (p.Asp429=) rs765234386 0.00001
NM_198428.3(BBS9):c.1464T>C (p.Ser488=) rs200850911 0.00001
NM_198428.3(BBS9):c.1537+14C>T rs754694089 0.00001
NM_198428.3(BBS9):c.1593A>G (p.Leu531=) rs1819915912 0.00001
NM_198428.3(BBS9):c.1686C>T (p.Leu562=) rs1278366304 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.1963-11A>G rs749640684 0.00001
NM_198428.3(BBS9):c.2070C>G (p.Ala690=) rs200515072 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.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.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.263+13A>T rs374383847 0.00001
NM_198428.3(BBS9):c.2633-10T>C rs879202314 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.507T>C (p.Tyr169=) rs376901170 0.00001
NM_198428.3(BBS9):c.519A>G (p.Arg173=) rs911834235 0.00001
NM_198428.3(BBS9):c.930C>T (p.Asn310=) rs140396972 0.00001
NM_198428.3(BBS9):c.954G>A (p.Val318=) rs774067100 0.00001
NM_012210.4(TRIM32):c.1002C>G (p.Ala334=)
NM_012210.4(TRIM32):c.1014C>T (p.Ala338=)
NM_012210.4(TRIM32):c.1030C>A (p.Arg344=)
NM_012210.4(TRIM32):c.1041G>A (p.Glu347=) rs1588217225
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.1095C>G (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.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.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>T (p.Asp389=)
NM_012210.4(TRIM32):c.1173T>C (p.Gly391=)
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.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.1255C>T (p.Leu419=) rs2132074396
NM_012210.4(TRIM32):c.1263C>T (p.Phe421=)
NM_012210.4(TRIM32):c.1299A>T (p.Ser433=)
NM_012210.4(TRIM32):c.1314C>T (p.Cys438=)
NM_012210.4(TRIM32):c.1344T>C (p.Tyr448=)
NM_012210.4(TRIM32):c.1350C>T (p.Asn450=)
NM_012210.4(TRIM32):c.1362A>G (p.Val454=)
NM_012210.4(TRIM32):c.1365T>C (p.Tyr455=)
NM_012210.4(TRIM32):c.1374T>C (p.Asp458=)
NM_012210.4(TRIM32):c.1377C>A (p.Gly459=)
NM_012210.4(TRIM32):c.1386G>T (p.Val462=)
NM_012210.4(TRIM32):c.141C>T (p.Cys47=)
NM_012210.4(TRIM32):c.1434G>A (p.Leu478=)
NM_012210.4(TRIM32):c.1437A>G (p.Pro479=)
NM_012210.4(TRIM32):c.1443C>A (p.Gly481=)
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.1506A>G (p.Ser502=)
NM_012210.4(TRIM32):c.1512G>C (p.Val504=)
NM_012210.4(TRIM32):c.1515C>T (p.Val505=)
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.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.1563T>C (p.Cys521=)
NM_012210.4(TRIM32):c.1569T>C (p.Ala523=)
NM_012210.4(TRIM32):c.1578C>A (p.Thr526=)
NM_012210.4(TRIM32):c.1578C>G (p.Thr526=) rs778620127
NM_012210.4(TRIM32):c.159C>T (p.Ala53=) rs2132070452
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.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.1686T>C (p.Gly562=) rs2132075583
NM_012210.4(TRIM32):c.1689C>T (p.Arg563=)
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.1737T>C (p.Ala579=) rs1588218802
NM_012210.4(TRIM32):c.1740C>G (p.Gly580=)
NM_012210.4(TRIM32):c.1758T>C (p.Arg586=)
NM_012210.4(TRIM32):c.1770C>T (p.Ile590=) rs776504480
NM_012210.4(TRIM32):c.1788C>A (p.Arg596=)
NM_012210.4(TRIM32):c.1818G>C (p.Gly606=)
NM_012210.4(TRIM32):c.1857G>C (p.Pro619=)
NM_012210.4(TRIM32):c.186C>T (p.Pro62=)
NM_012210.4(TRIM32):c.1872A>G (p.Leu624=)
NM_012210.4(TRIM32):c.1888C>T (p.Leu630=)
NM_012210.4(TRIM32):c.1893G>A (p.Leu631=)
NM_012210.4(TRIM32):c.1899G>A (p.Leu633=)
NM_012210.4(TRIM32):c.1932C>T (p.Ser644=)
NM_012210.4(TRIM32):c.1950T>C (p.Tyr650=) rs1273018123
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.240G>C (p.Leu80=)
NM_012210.4(TRIM32):c.243A>G (p.Thr81=)
NM_012210.4(TRIM32):c.246G>A (p.Val82=) rs1418790890
NM_012210.4(TRIM32):c.249A>C (p.Leu83=)
NM_012210.4(TRIM32):c.267T>C (p.Ala89=)
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.319C>T (p.Leu107=) rs886042410
NM_012210.4(TRIM32):c.324C>T (p.Pro108=)
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.387G>A (p.Gln129=) rs748208744
NM_012210.4(TRIM32):c.408C>A (p.Leu136=) rs2132071452
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.468G>C (p.Leu156=)
NM_012210.4(TRIM32):c.468G>T (p.Leu156=)
NM_012210.4(TRIM32):c.471G>A (p.Arg157=)
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.564T>C (p.Tyr188=)
NM_012210.4(TRIM32):c.567G>C (p.Gly189=)
NM_012210.4(TRIM32):c.57A>G (p.Glu19=)
NM_012210.4(TRIM32):c.597G>A (p.Leu199=)
NM_012210.4(TRIM32):c.603C>A (p.Arg201=) rs767937527
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.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.663A>C (p.Val221=)
NM_012210.4(TRIM32):c.666G>A (p.Glu222=)
NM_012210.4(TRIM32):c.699G>T (p.Val233=) rs1057521228
NM_012210.4(TRIM32):c.723C>T (p.Tyr241=)
NM_012210.4(TRIM32):c.735G>A (p.Lys245=)
NM_012210.4(TRIM32):c.744G>A (p.Gln248=) rs750466433
NM_012210.4(TRIM32):c.753A>C (p.Val251=)
NM_012210.4(TRIM32):c.756A>T (p.Ala252=)
NM_012210.4(TRIM32):c.777T>C (p.Asp259=) rs2132072865
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.822C>A (p.Thr274=)
NM_012210.4(TRIM32):c.825G>A (p.Leu275=)
NM_012210.4(TRIM32):c.843T>C (p.Leu281=)
NM_012210.4(TRIM32):c.846G>A (p.Lys282=)
NM_012210.4(TRIM32):c.855T>C (p.His285=) rs1290656615
NM_012210.4(TRIM32):c.867C>T (p.Leu289=)
NM_012210.4(TRIM32):c.894C>G (p.Pro298=)
NM_012210.4(TRIM32):c.900A>G (p.Thr300=)
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.924C>A (p.Ala308=)
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.957T>C (p.Ser319=)
NM_012210.4(TRIM32):c.963T>G (p.Thr321=)
NM_012210.4(TRIM32):c.972G>A (p.Glu324=) rs904444090
NM_015910.7(WDPCP):c.1038T>C (p.Asn346=)
NM_015910.7(WDPCP):c.1044T>C (p.Thr348=)
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.1116C>T (p.Leu372=) rs1197964654
NM_015910.7(WDPCP):c.1197G>A (p.Gly399=)
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.123G>A (p.Leu41=) rs779322047
NM_015910.7(WDPCP):c.1245G>C (p.Leu415=)
NM_015910.7(WDPCP):c.1377T>C (p.Tyr459=)
NM_015910.7(WDPCP):c.1383C>T (p.Leu461=) rs1480092104
NM_015910.7(WDPCP):c.1435+12A>G rs752729656
NM_015910.7(WDPCP):c.1435+18A>T
NM_015910.7(WDPCP):c.1436-14A>G
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.1470C>T (p.Asp490=) rs745681296
NM_015910.7(WDPCP):c.1488T>C (p.Ile496=) rs2104901376
NM_015910.7(WDPCP):c.1518C>T (p.Asn506=)
NM_015910.7(WDPCP):c.1566C>T (p.Ile522=)
NM_015910.7(WDPCP):c.1578C>T (p.Ala526=) rs1692345418
NM_015910.7(WDPCP):c.160+20A>T rs2105950775
NM_015910.7(WDPCP):c.1608C>T (p.Leu536=)
NM_015910.7(WDPCP):c.1625-12T>G rs1014640074
NM_015910.7(WDPCP):c.1650C>T (p.Thr550=) rs2104859059
NM_015910.7(WDPCP):c.1690T>C (p.Leu564=)
NM_015910.7(WDPCP):c.1731C>T (p.Phe577=) rs778132438
NM_015910.7(WDPCP):c.1748+17G>A rs2104857132
NM_015910.7(WDPCP):c.1748+18A>G rs2104857099
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.1758G>A (p.Arg586=) rs1317461178
NM_015910.7(WDPCP):c.1812+19T>G
NM_015910.7(WDPCP):c.1812+20G>A
NM_015910.7(WDPCP):c.1813-11T>C rs2104772785
NM_015910.7(WDPCP):c.1813-5C>G rs1681422817
NM_015910.7(WDPCP):c.1813-5C>T
NM_015910.7(WDPCP):c.1827T>A (p.Leu609=)
NM_015910.7(WDPCP):c.1846T>C (p.Leu616=)
NM_015910.7(WDPCP):c.1916-21_1916-20del rs1672121339
NM_015910.7(WDPCP):c.1968C>G (p.Gly656=) rs746538391
NM_015910.7(WDPCP):c.1971G>C (p.Leu657=)
NM_015910.7(WDPCP):c.2031C>A (p.Thr677=)
NM_015910.7(WDPCP):c.2078+18G>A
NM_015910.7(WDPCP):c.2078+8A>G
NM_015910.7(WDPCP):c.2079-8T>C rs201051851
NM_015910.7(WDPCP):c.2106T>G (p.Leu702=)
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.2190+15C>A
NM_015910.7(WDPCP):c.2211T>C (p.Ser737=) rs1369325564
NM_015910.7(WDPCP):c.2235G>A (p.Leu745=)
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.254-14G>A
NM_015910.7(WDPCP):c.254-20G>C rs2105907834
NM_015910.7(WDPCP):c.27C>G (p.Ala9=)
NM_015910.7(WDPCP):c.288C>T (p.Arg96=) rs2105907324
NM_015910.7(WDPCP):c.324+15_324+24del
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.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.42C>T (p.Ala14=)
NM_015910.7(WDPCP):c.432G>A (p.Pro144=) rs375615054
NM_015910.7(WDPCP):c.45G>T (p.Gly15=) rs1003414023
NM_015910.7(WDPCP):c.477C>T (p.Leu159=) rs774300078
NM_015910.7(WDPCP):c.489C>G (p.Thr163=) rs1357358501
NM_015910.7(WDPCP):c.489C>T (p.Thr163=)
NM_015910.7(WDPCP):c.500-17_500-13del
NM_015910.7(WDPCP):c.531A>G (p.Ser177=) rs2105501110
NM_015910.7(WDPCP):c.597C>T (p.Asn199=)
NM_015910.7(WDPCP):c.60C>T (p.Ser20=)
NM_015910.7(WDPCP):c.633+16T>C
NM_015910.7(WDPCP):c.633+17A>T rs373456348
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.690T>A (p.Ala230=)
NM_015910.7(WDPCP):c.6G>A (p.Arg2=)
NM_015910.7(WDPCP):c.75+11G>A
NM_015910.7(WDPCP):c.75+15G>A
NM_015910.7(WDPCP):c.75+7C>A
NM_015910.7(WDPCP):c.76-19T>A
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.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.831G>C (p.Leu277=) rs863224423
NM_015910.7(WDPCP):c.846A>G (p.Thr282=) rs2105194260
NM_015910.7(WDPCP):c.921T>C (p.Ser307=) rs1694416849
NM_015910.7(WDPCP):c.924A>C (p.Val308=)
NM_015910.7(WDPCP):c.945C>T (p.Asp315=)
NM_015910.7(WDPCP):c.9A>C (p.Arg3=)
NM_024649.5(BBS1):c.1008G>A (p.Leu336=)
NM_024649.5(BBS1):c.1014G>A (p.Gln338=)
NM_024649.5(BBS1):c.1017T>C (p.His339=)
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.1038C>A (p.Val346=)
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.1086C>T (p.Ala362=)
NM_024649.5(BBS1):c.1107C>G (p.Thr369=)
NM_024649.5(BBS1):c.1107C>T (p.Thr369=) rs2134797905
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+20T>A rs1590767738
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.1113T>C (p.Asp371=)
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>T (p.Ser375=)
NM_024649.5(BBS1):c.1134T>C (p.Phe378=) rs2134809483
NM_024649.5(BBS1):c.1140G>T (p.Arg380=) rs959671412
NM_024649.5(BBS1):c.1149G>A (p.Arg383=)
NM_024649.5(BBS1):c.1180+17C>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.1181-4C>A rs1856511238
NM_024649.5(BBS1):c.1188C>T (p.Gly396=)
NM_024649.5(BBS1):c.1189C>T (p.Leu397=) rs1856512452
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.120C>T (p.Cys40=) rs1224146191
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.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+9C>T
NM_024649.5(BBS1):c.1245G>A (p.Val415=) rs1590772951
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.1284C>G (p.Pro428=)
NM_024649.5(BBS1):c.1284C>T (p.Pro428=)
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+15G>A
NM_024649.5(BBS1):c.1339+16G>C
NM_024649.5(BBS1):c.1339+20C>A
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.1340-5C>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.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.1392C>G (p.Ala464=)
NM_024649.5(BBS1):c.1401C>T (p.Tyr467=)
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.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.1452G>A (p.Glu484=)
NM_024649.5(BBS1):c.1455A>G (p.Pro485=) rs2134831283
NM_024649.5(BBS1):c.1464G>T (p.Leu488=) rs1239688580
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+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.1474-7T>C
NM_024649.5(BBS1):c.150G>A (p.Gly50=)
NM_024649.5(BBS1):c.1512C>T (p.His504=) rs1301583558
NM_024649.5(BBS1):c.1524C>T (p.Thr508=) rs2134836921
NM_024649.5(BBS1):c.1533C>T (p.Thr511=) rs112953332
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.156C>T (p.Tyr52=)
NM_024649.5(BBS1):c.1578G>T (p.Ala526=) rs373397428
NM_024649.5(BBS1):c.1581C>G (p.Leu527=)
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.1596G>A (p.Arg532=) rs1299530387
NM_024649.5(BBS1):c.160-12C>T
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.1602C>T (p.Phe534=)
NM_024649.5(BBS1):c.1605C>T (p.Phe535=)
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.1609-9C>T rs1181236498
NM_024649.5(BBS1):c.1614C>T (p.Pro538=)
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.1668T>C (p.Ser556=)
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.1696-13C>T
NM_024649.5(BBS1):c.1696-14C>A
NM_024649.5(BBS1):c.1696-16G>A
NM_024649.5(BBS1):c.1696-4A>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.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.1740C>T (p.Ala580=) rs2134843050
NM_024649.5(BBS1):c.174C>T (p.Asp58=)
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.1779C>T (p.Ala593=) rs1262928353
NM_024649.5(BBS1):c.1781G>A (p.Ter594=) rs1475796233
NM_024649.5(BBS1):c.18A>C (p.Ser6=)
NM_024649.5(BBS1):c.18A>T (p.Ser6=) rs758441011
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.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.225G>A (p.Leu75=) rs2134771305
NM_024649.5(BBS1):c.228G>A (p.Val76=)
NM_024649.5(BBS1):c.234C>G (p.Thr78=) rs748732460
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.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.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.336C>A (p.Val112=) rs2134771483
NM_024649.5(BBS1):c.342G>A (p.Val114=) rs2134771502
NM_024649.5(BBS1):c.357A>G (p.Arg119=)
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.400C>T (p.Leu134=) rs771933760
NM_024649.5(BBS1):c.432+14A>C rs764645595
NM_024649.5(BBS1):c.432+14A>G
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.45G>A (p.Glu15=) rs767116799
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+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.48-7C>T rs2134765142
NM_024649.5(BBS1):c.48-9C>G
NM_024649.5(BBS1):c.48-9C>T rs765571574
NM_024649.5(BBS1):c.480-4G>T
NM_024649.5(BBS1):c.480-5T>C
NM_024649.5(BBS1):c.480-9T>C rs1856035253
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.492G>A (p.Glu164=)
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.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.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.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+11C>T
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>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.612C>A (p.Thr204=)
NM_024649.5(BBS1):c.63G>A (p.Ser21=) rs2134765230
NM_024649.5(BBS1):c.651T>G (p.Ser217=)
NM_024649.5(BBS1):c.66G>A (p.Lys22=)
NM_024649.5(BBS1):c.672G>A (p.Glu224=)
NM_024649.5(BBS1):c.687G>A (p.Leu229=) rs752374832
NM_024649.5(BBS1):c.690G>A (p.Val230=) rs2134780572
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.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+16G>T
NM_024649.5(BBS1):c.723+19C>T
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.724-8_724-6del
NM_024649.5(BBS1):c.724-9T>C rs1590762249
NM_024649.5(BBS1):c.729C>T (p.Ser243=)
NM_024649.5(BBS1):c.751C>T (p.Leu251=)
NM_024649.5(BBS1):c.75T>C (p.Asp25=)
NM_024649.5(BBS1):c.777T>C (p.Val259=) rs2134784755
NM_024649.5(BBS1):c.780G>A (p.Glu260=)
NM_024649.5(BBS1):c.783C>T (p.Phe261=)
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+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.831-4A>G rs2134794642
NM_024649.5(BBS1):c.837C>T (p.Ser279=) rs2134794684
NM_024649.5(BBS1):c.843C>T (p.His281=)
NM_024649.5(BBS1):c.84C>T (p.Tyr28=) rs771560964
NM_024649.5(BBS1):c.873G>A (p.Gln291=) rs547524683
NM_024649.5(BBS1):c.888C>T (p.Ile296=)
NM_024649.5(BBS1):c.903C>T (p.Val301=) rs2134795241
NM_024649.5(BBS1):c.904C>T (p.Leu302=)
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.942C>T (p.Phe314=)
NM_024649.5(BBS1):c.945C>A (p.Thr315=) rs2134795565
NM_024649.5(BBS1):c.951+16AGC[2]
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.952-9C>T
NM_024649.5(BBS1):c.987C>T (p.Ala329=)
NM_024649.5(BBS1):c.996C>G (p.Thr332=)
NM_024685.4(BBS10):c.1005A>G (p.Ser335=)
NM_024685.4(BBS10):c.1014A>G (p.Glu338=) rs2136090679
NM_024685.4(BBS10):c.1026C>T (p.Ile342=) rs2136090671
NM_024685.4(BBS10):c.1035C>T (p.Ile345=)
NM_024685.4(BBS10):c.1038T>C (p.Ile346=)
NM_024685.4(BBS10):c.1041T>G (p.Gly347=)
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.1074G>T (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1077G>A (p.Gln359=) rs2136090625
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.1125C>T (p.Ile375=) rs762785764
NM_024685.4(BBS10):c.1143T>C (p.Tyr381=) rs1340165752
NM_024685.4(BBS10):c.1149T>C (p.His383=)
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
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.1185C>T (p.His395=) rs863224793
NM_024685.4(BBS10):c.1188T>G (p.Ser396=) rs143903199
NM_024685.4(BBS10):c.1197T>A (p.Leu399=) rs974452621
NM_024685.4(BBS10):c.1218C>T (p.Leu406=) rs758194221
NM_024685.4(BBS10):c.1224A>G (p.Glu408=)
NM_024685.4(BBS10):c.1236T>C (p.Asp412=) rs2136090480
NM_024685.4(BBS10):c.1248A>G (p.Gly416=) rs2136090464
NM_024685.4(BBS10):c.1254T>C (p.Leu418=) rs920762954
NM_024685.4(BBS10):c.1257A>G (p.Lys419=)
NM_024685.4(BBS10):c.1269A>G (p.Gln423=)
NM_024685.4(BBS10):c.126T>G (p.Thr42=) rs1467112927
NM_024685.4(BBS10):c.1278A>G (p.Lys426=)
NM_024685.4(BBS10):c.1284T>A (p.Leu428=) rs1382756940
NM_024685.4(BBS10):c.1293T>C (p.Asn431=)
NM_024685.4(BBS10):c.1296C>T (p.Tyr432=)
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.1317A>G (p.Gln439=)
NM_024685.4(BBS10):c.1320T>C (p.Asn440=) rs2136090393
NM_024685.4(BBS10):c.1329A>G (p.Ser443=)
NM_024685.4(BBS10):c.1338T>C (p.Phe446=) rs941842098
NM_024685.4(BBS10):c.135G>C (p.Val45=)
NM_024685.4(BBS10):c.1365T>C (p.Tyr455=) rs778731343
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.1392A>G (p.Ser464=)
NM_024685.4(BBS10):c.1395A>C (p.Ile465=) rs2136090313
NM_024685.4(BBS10):c.1416A>C (p.Thr472=) rs1345667368
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.1494A>G (p.Val498=) rs1048483339
NM_024685.4(BBS10):c.1509T>C (p.Tyr503=) rs1951759072
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.1527C>T (p.Pro509=) rs762271852
NM_024685.4(BBS10):c.1531C>T (p.Leu511=) rs2136090156
NM_024685.4(BBS10):c.1542A>C (p.Thr514=)
NM_024685.4(BBS10):c.1548A>C (p.Thr516=)
NM_024685.4(BBS10):c.1557A>G (p.Thr519=) rs2136090123
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.1599A>G (p.Leu533=)
NM_024685.4(BBS10):c.1602T>G (p.Thr534=) rs750402316
NM_024685.4(BBS10):c.1618T>C (p.Leu540=)
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.162C>T (p.Leu54=)
NM_024685.4(BBS10):c.1641T>A (p.Ala547=)
NM_024685.4(BBS10):c.1641T>G (p.Ala547=) rs2136090029
NM_024685.4(BBS10):c.1656A>C (p.Gly552=) rs2136090019
NM_024685.4(BBS10):c.165G>A (p.Leu55=)
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.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.1698T>C (p.Asn566=)
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.1725A>C (p.Pro575=)
NM_024685.4(BBS10):c.1740A>G (p.Leu580=) rs2136089948
NM_024685.4(BBS10):c.174A>G (p.Leu58=) rs2136091515
NM_024685.4(BBS10):c.1773C>G (p.Ser591=)
NM_024685.4(BBS10):c.178T>C (p.Leu60=)
NM_024685.4(BBS10):c.1806A>G (p.Val602=) rs1951756000
NM_024685.4(BBS10):c.1809T>C (p.Gly603=) rs2136089890
NM_024685.4(BBS10):c.1812T>C (p.Gly604=)
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.1827G>A (p.Leu609=) rs376793096
NM_024685.4(BBS10):c.1828T>C (p.Leu610=)
NM_024685.4(BBS10):c.1851T>C (p.Tyr617=)
NM_024685.4(BBS10):c.1854C>T (p.Ala618=) rs2136089834
NM_024685.4(BBS10):c.1869A>G (p.Gln623=)
NM_024685.4(BBS10):c.1899A>T (p.Ile633=)
NM_024685.4(BBS10):c.1912T>C (p.Leu638=)
NM_024685.4(BBS10):c.1917C>G (p.Gly639=)
NM_024685.4(BBS10):c.1929C>A (p.Val643=)
NM_024685.4(BBS10):c.1929C>T (p.Val643=) rs779691612
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.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.197+18G>A
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.198-12T>G rs1951774646
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.198-8T>C
NM_024685.4(BBS10):c.198-9T>G rs2136091348
NM_024685.4(BBS10):c.1989T>C (p.His663=)
NM_024685.4(BBS10):c.198G>A (p.Arg66=)
NM_024685.4(BBS10):c.2004T>C (p.Asn668=)
NM_024685.4(BBS10):c.2010C>T (p.Pro670=)
NM_024685.4(BBS10):c.2031T>G (p.Gly677=)
NM_024685.4(BBS10):c.2040A>G (p.Ser680=) rs1201858558
NM_024685.4(BBS10):c.2049T>A (p.Gly683=)
NM_024685.4(BBS10):c.2055C>T (p.Tyr685=) rs752574665
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.2095T>C (p.Leu699=)
NM_024685.4(BBS10):c.2103T>C (p.Ile701=) rs2136089643
NM_024685.4(BBS10):c.2106C>T (p.Asp702=)
NM_024685.4(BBS10):c.210C>T (p.Asp70=) rs757062257
NM_024685.4(BBS10):c.2130C>T (p.His710=)
NM_024685.4(BBS10):c.2139A>G (p.Lys713=) rs2136089616
NM_024685.4(BBS10):c.2167C>T (p.Leu723=) rs1003705267
NM_024685.4(BBS10):c.246T>G (p.Gly82=)
NM_024685.4(BBS10):c.252A>G (p.Lys84=)
NM_024685.4(BBS10):c.264C>A (p.Ile88=)
NM_024685.4(BBS10):c.264C>T (p.Ile88=)
NM_024685.4(BBS10):c.270T>C (p.Leu90=) rs200390697
NM_024685.4(BBS10):c.273C>T (p.Cys91=)
NM_024685.4(BBS10):c.27G>C (p.Gly9=)
NM_024685.4(BBS10):c.288A>G (p.Gly96=) rs2136091268
NM_024685.4(BBS10):c.309A>G (p.Arg103=) rs745374133
NM_024685.4(BBS10):c.315G>A (p.Lys105=)
NM_024685.4(BBS10):c.336C>T (p.Asn112=) rs1951771752
NM_024685.4(BBS10):c.357T>C (p.His119=) rs201401485
NM_024685.4(BBS10):c.36G>A (p.Lys12=) rs2136091631
NM_024685.4(BBS10):c.381A>G (p.Lys127=)
NM_024685.4(BBS10):c.390C>T (p.Ser130=)
NM_024685.4(BBS10):c.414A>C (p.Thr138=)
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.445C>T (p.Leu149=) rs758553544
NM_024685.4(BBS10):c.460T>C (p.Leu154=) rs754415474
NM_024685.4(BBS10):c.474G>A (p.Ser158=) rs375436323
NM_024685.4(BBS10):c.477T>A (p.Ser159=)
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.534T>C (p.Phe178=)
NM_024685.4(BBS10):c.54C>A (p.Ala18=) rs772653493
NM_024685.4(BBS10):c.564A>G (p.Lys188=) rs1951768043
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.597C>T (p.Phe199=)
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.627T>A (p.Gly209=) rs2136090970
NM_024685.4(BBS10):c.630A>G (p.Val210=) rs759791957
NM_024685.4(BBS10):c.648C>T (p.Asp216=) rs748037727
NM_024685.4(BBS10):c.663G>A (p.Leu221=)
NM_024685.4(BBS10):c.684T>C (p.Leu228=)
NM_024685.4(BBS10):c.687T>A (p.Pro229=)
NM_024685.4(BBS10):c.69C>T (p.Ala23=) rs2136091596
NM_024685.4(BBS10):c.702G>A (p.Arg234=)
NM_024685.4(BBS10):c.711T>C (p.Ala237=)
NM_024685.4(BBS10):c.72C>T (p.Ile24=) rs754188249
NM_024685.4(BBS10):c.738T>C (p.Ser246=)
NM_024685.4(BBS10):c.750A>G (p.Pro250=) rs2136090884
NM_024685.4(BBS10):c.762C>T (p.Asp254=) rs2136090876
NM_024685.4(BBS10):c.801T>G (p.Leu267=)
NM_024685.4(BBS10):c.804T>C (p.Phe268=) rs770050659
NM_024685.4(BBS10):c.813T>C (p.Ser271=)
NM_024685.4(BBS10):c.816A>G (p.Gly272=)
NM_024685.4(BBS10):c.837A>G (p.Ser279=) rs2136090820
NM_024685.4(BBS10):c.843A>C (p.Ala281=)
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.876A>G (p.Glu292=) rs2136090796
NM_024685.4(BBS10):c.879G>A (p.Lys293=) rs2136090790
NM_024685.4(BBS10):c.903A>G (p.Leu301=) rs2136090772
NM_024685.4(BBS10):c.912G>A (p.Gln304=)
NM_024685.4(BBS10):c.927C>G (p.Leu309=)
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.951T>C (p.Asp317=)
NM_024685.4(BBS10):c.963T>C (p.Tyr321=) rs1555202662
NM_024685.4(BBS10):c.969A>C (p.Ala323=)
NM_024685.4(BBS10):c.975G>A (p.Val325=)
NM_024685.4(BBS10):c.999T>C (p.Cys333=) rs1565809867
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_031885.5(BBS2):c.1008C>T (p.Asp336=) rs2144148893
NM_031885.5(BBS2):c.1014C>T (p.Ile338=)
NM_031885.5(BBS2):c.1038G>A (p.Gln346=)
NM_031885.5(BBS2):c.1042C>T (p.Leu348=)
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.1083T>A (p.Ala361=) rs951758684
NM_031885.5(BBS2):c.1099C>T (p.Leu367=) rs1245174214
NM_031885.5(BBS2):c.111G>T (p.Thr37=) rs191867233
NM_031885.5(BBS2):c.1146G>A (p.Arg382=)
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.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+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.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.118-8T>G
NM_031885.5(BBS2):c.1197T>C (p.His399=)
NM_031885.5(BBS2):c.1215C>A (p.Ser405=) rs768053787
NM_031885.5(BBS2):c.1221T>C (p.Ser407=) rs2144145106
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.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.1272A>C (p.Thr424=) rs2144143509
NM_031885.5(BBS2):c.1296C>T (p.Pro432=) rs2144143413
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.1389C>T (p.Tyr463=)
NM_031885.5(BBS2):c.1397+10T>G
NM_031885.5(BBS2):c.1397+15G>A
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.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.144G>A (p.Arg48=)
NM_031885.5(BBS2):c.1452T>C (p.Tyr484=)
NM_031885.5(BBS2):c.1455G>A (p.Ala485=) rs749317806
NM_031885.5(BBS2):c.1467G>A (p.Leu489=)
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.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.1515A>G (p.Glu505=)
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+18C>T
NM_031885.5(BBS2):c.1527+19T>G
NM_031885.5(BBS2):c.1527+20C>G
NM_031885.5(BBS2):c.1528-16T>C rs1430495735
NM_031885.5(BBS2):c.1528-19C>A
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.153T>C (p.His51=)
NM_031885.5(BBS2):c.1542C>G (p.Leu514=)
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.1569C>T (p.Asp523=)
NM_031885.5(BBS2):c.156C>T (p.Val52=) rs1468099662
NM_031885.5(BBS2):c.1590A>G (p.Pro530=)
NM_031885.5(BBS2):c.1599G>A (p.Val533=)
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.1650T>C (p.Leu550=)
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.1671T>C (p.Asn557=)
NM_031885.5(BBS2):c.1674T>C (p.Thr558=)
NM_031885.5(BBS2):c.1686T>C (p.Asp562=) rs1382087682
NM_031885.5(BBS2):c.1695T>A (p.Gly565=)
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.1746A>G (p.Val582=)
NM_031885.5(BBS2):c.1752G>A (p.Ala584=)
NM_031885.5(BBS2):c.1758T>C (p.Phe586=)
NM_031885.5(BBS2):c.1776A>G (p.Glu592=) rs2144132413
NM_031885.5(BBS2):c.1791A>C (p.Leu597=) rs2144132339
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.1798-10T>C rs1964135497
NM_031885.5(BBS2):c.1798-18A>G
NM_031885.5(BBS2):c.1800G>T (p.Val600=)
NM_031885.5(BBS2):c.1806A>G (p.Glu602=) rs1597011884
NM_031885.5(BBS2):c.180C>T (p.Ser60=)
NM_031885.5(BBS2):c.1812T>C (p.His604=)
NM_031885.5(BBS2):c.1818G>A (p.Val606=) rs1964134267
NM_031885.5(BBS2):c.1836T>C (p.Ala612=)
NM_031885.5(BBS2):c.1839T>C (p.Asp613=)
NM_031885.5(BBS2):c.1845T>C (p.Ala615=) rs1964133464
NM_031885.5(BBS2):c.1857T>C (p.Asn619=)
NM_031885.5(BBS2):c.1873C>T (p.Leu625=) rs2144130003
NM_031885.5(BBS2):c.1878C>G (p.Val626=)
NM_031885.5(BBS2):c.1899G>C (p.Leu633=)
NM_031885.5(BBS2):c.1911-10dup
NM_031885.5(BBS2):c.1911-14A>C
NM_031885.5(BBS2):c.1911-6G>A rs1000103343
NM_031885.5(BBS2):c.1911-8T>G rs1260335822
NM_031885.5(BBS2):c.1944T>C (p.Tyr648=) rs1014315603
NM_031885.5(BBS2):c.1950T>A (p.Leu650=)
NM_031885.5(BBS2):c.195T>C (p.Asp65=)
NM_031885.5(BBS2):c.1974T>C (p.Tyr658=) rs895581773
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.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.2046A>C (p.Ala682=) rs2144095335
NM_031885.5(BBS2):c.2049T>A (p.Gly683=)
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+7C>T
NM_031885.5(BBS2):c.2059+8T>G
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.2060-6A>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.2091T>G (p.Ala697=) rs1412519720
NM_031885.5(BBS2):c.2106T>A (p.Ile702=)
NM_031885.5(BBS2):c.2106T>C (p.Ile702=) rs1314393067
NM_031885.5(BBS2):c.2121C>T (p.Ile707=)
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.237T>A (p.Thr79=) rs756639098
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.258G>A (p.Glu86=)
NM_031885.5(BBS2):c.267T>C (p.Tyr89=) rs2144193050
NM_031885.5(BBS2):c.270T>C (p.Asp90=)
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.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.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+8T>C
NM_031885.5(BBS2):c.346-11A>G
NM_031885.5(BBS2):c.346-12T>A
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.366A>C (p.Ala122=) rs1191119235
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.405T>C (p.Leu135=)
NM_031885.5(BBS2):c.405T>G (p.Leu135=) rs2144181808
NM_031885.5(BBS2):c.420C>T (p.Gly140=)
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.441C>T (p.Phe147=) rs2144181587
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.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.472-18T>C
NM_031885.5(BBS2):c.472-6T>C rs2144180463
NM_031885.5(BBS2):c.486T>C (p.Asn162=)
NM_031885.5(BBS2):c.495C>T (p.Ser165=)
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.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.534+10G>A rs1207740034
NM_031885.5(BBS2):c.534+11G>T
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+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.535-16_535-14del
NM_031885.5(BBS2):c.535-18A>G
NM_031885.5(BBS2):c.535-20G>C
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.564C>A (p.Ile188=)
NM_031885.5(BBS2):c.564C>T (p.Ile188=)
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.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.615A>T (p.Ile205=)
NM_031885.5(BBS2):c.618C>T (p.Val206=)
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.633C>G (p.Pro211=)
NM_031885.5(BBS2):c.633C>T (p.Pro211=)
NM_031885.5(BBS2):c.654T>C (p.Gly218=)
NM_031885.5(BBS2):c.660C>G (p.Ala220=)
NM_031885.5(BBS2):c.666C>T (p.Ser222=)
NM_031885.5(BBS2):c.672C>G (p.Gly224=)
NM_031885.5(BBS2):c.672C>T (p.Gly224=)
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.69C>T (p.Arg23=)
NM_031885.5(BBS2):c.705C>T (p.Tyr235=)
NM_031885.5(BBS2):c.711A>G (p.Arg237=) rs2144162775
NM_031885.5(BBS2):c.717+17C>T
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.718-4T>G rs1265021801
NM_031885.5(BBS2):c.718-9C>A rs2144162512
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.768A>C (p.Gly256=) rs2144162236
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.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+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.807T>C (p.Val269=) rs2144150832
NM_031885.5(BBS2):c.813T>C (p.Ala271=)
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.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.87G>A (p.Pro29=) rs2144214387
NM_031885.5(BBS2):c.882G>A (p.Glu294=) rs2144150392
NM_031885.5(BBS2):c.912G>A (p.Gln304=) rs2144150234
NM_031885.5(BBS2):c.940+18A>G
NM_031885.5(BBS2):c.940+20A>G
NM_031885.5(BBS2):c.941-10T>C
NM_031885.5(BBS2):c.941-19G>A
NM_031885.5(BBS2):c.941-20G>T
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.960C>G (p.Gly320=) rs369415186
NM_031885.5(BBS2):c.960C>T (p.Gly320=)
NM_031885.5(BBS2):c.969G>A (p.Glu323=)
NM_031885.5(BBS2):c.975G>A (p.Arg325=) rs1276623881
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.993C>T (p.Thr331=) rs1964300336
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.1020C>T (p.Leu340=)
NM_033028.5(BBS4):c.1023C>T (p.Tyr341=)
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+8A>G
NM_033028.5(BBS4):c.1074G>A (p.Lys358=)
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.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+7A>C
NM_033028.5(BBS4):c.1106+7A>G
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.1134T>C (p.Tyr378=)
NM_033028.5(BBS4):c.1143G>A (p.Leu381=)
NM_033028.5(BBS4):c.1146G>A (p.Leu382=)
NM_033028.5(BBS4):c.1173C>T (p.Ala391=)
NM_033028.5(BBS4):c.1185T>C (p.Tyr395=)
NM_033028.5(BBS4):c.1191G>A (p.Glu397=)
NM_033028.5(BBS4):c.1209C>T (p.Ser403=)
NM_033028.5(BBS4):c.1224T>C (p.Asn408=)
NM_033028.5(BBS4):c.1227C>T (p.Ser409=)
NM_033028.5(BBS4):c.1248+18T>G
NM_033028.5(BBS4):c.1249-11G>A
NM_033028.5(BBS4):c.1249-15C>A
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.1278T>A (p.Ala426=)
NM_033028.5(BBS4):c.1287G>A (p.Gln429=)
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.1317A>G (p.Pro439=)
NM_033028.5(BBS4):c.1320T>C (p.Val440=)
NM_033028.5(BBS4):c.1329C>G (p.Pro443=)
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.1377G>A (p.Gln459=)
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+7C>T
NM_033028.5(BBS4):c.1450+9A>G
NM_033028.5(BBS4):c.1451-14T>C
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.1463C>A (p.Thr488Lys) rs561284402
NM_033028.5(BBS4):c.1494T>G (p.Pro498=) rs1186383384
NM_033028.5(BBS4):c.1515G>A (p.Val505=) rs2151058394
NM_033028.5(BBS4):c.1536A>G (p.Thr512=)
NM_033028.5(BBS4):c.1542A>G (p.Glu514=)
NM_033028.5(BBS4):c.1545A>G (p.Gln515=)
NM_033028.5(BBS4):c.1554G>A (p.Glu518=)
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+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.157-20C>G rs2151019478
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.174G>A (p.Gln58=)
NM_033028.5(BBS4):c.181G>A (p.Glu61Lys) rs1251827333
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.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.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.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+8C>A
NM_033028.5(BBS4):c.243A>G (p.Gly81=) rs2151023302
NM_033028.5(BBS4):c.246T>C (p.Asn82=)
NM_033028.5(BBS4):c.25-16A>G
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.306T>C (p.Asp102=) rs886706996
NM_033028.5(BBS4):c.332+14A>T rs980205433
NM_033028.5(BBS4):c.332+16del
NM_033028.5(BBS4):c.333-10T>C
NM_033028.5(BBS4):c.333-12T>C
NM_033028.5(BBS4):c.333-15A>C
NM_033028.5(BBS4):c.333-18A>G rs760730921
NM_033028.5(BBS4):c.333-20G>C
NM_033028.5(BBS4):c.333-9C>A
NM_033028.5(BBS4):c.340T>C (p.Leu114=)
NM_033028.5(BBS4):c.342G>A (p.Leu114=)
NM_033028.5(BBS4):c.348A>G (p.Lys116=)
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.39T>G (p.Pro13=) rs990984115
NM_033028.5(BBS4):c.406-16T>C
NM_033028.5(BBS4):c.406-4C>T rs2151032476
NM_033028.5(BBS4):c.456C>T (p.Asn152=)
NM_033028.5(BBS4):c.459+13A>G
NM_033028.5(BBS4):c.459+15T>A
NM_033028.5(BBS4):c.460-15T>C
NM_033028.5(BBS4):c.465A>G (p.Gln155=)
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.507G>A (p.Leu169=)
NM_033028.5(BBS4):c.507G>T (p.Leu169=)
NM_033028.5(BBS4):c.520C>T (p.Leu174=)
NM_033028.5(BBS4):c.531C>T (p.Ile177=) rs2065634194
NM_033028.5(BBS4):c.534C>T (p.His178=)
NM_033028.5(BBS4):c.549C>T (p.Asp183=)
NM_033028.5(BBS4):c.555C>T (p.Asp185=) rs2151034397
NM_033028.5(BBS4):c.570C>G (p.Val190=)
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.633C>G (p.Leu211=)
NM_033028.5(BBS4):c.636C>T (p.Tyr212=) rs1239795042
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+20C>T
NM_033028.5(BBS4):c.643-11T>C
NM_033028.5(BBS4):c.643-19T>C
NM_033028.5(BBS4):c.66G>A (p.Arg22=)
NM_033028.5(BBS4):c.6T>G (p.Ala2=)
NM_033028.5(BBS4):c.711+12TG[3] rs2065774442
NM_033028.5(BBS4):c.711+13del
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.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+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.789T>C (p.Ala263=)
NM_033028.5(BBS4):c.78T>A (p.Ala26=) rs2065330472
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.861G>A (p.Val287=)
NM_033028.5(BBS4):c.861G>T (p.Val287=) rs1595947650
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.865-5C>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.885A>C (p.Arg295=)
NM_033028.5(BBS4):c.894C>T (p.Tyr298=)
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.939C>T (p.Val313=)
NM_033028.5(BBS4):c.943T>C (p.Leu315=) rs1433729329
NM_033028.5(BBS4):c.94T>C (p.Leu32=) rs771325848
NM_033028.5(BBS4):c.984T>C (p.Ser328=)
NM_033028.5(BBS4):c.99G>A (p.Glu33=)
NM_033028.5(BBS4):c.9G>A (p.Glu3=)
NM_144596.4(TTC8):c.1049+11C>T rs762777832
NM_144596.4(TTC8):c.1049+7T>G
NM_144596.4(TTC8):c.1050-13C>G
NM_144596.4(TTC8):c.1050-20G>A
NM_144596.4(TTC8):c.1071T>A (p.Ile357=)
NM_144596.4(TTC8):c.1101G>C (p.Gly367=) rs2141036668
NM_144596.4(TTC8):c.1125G>A (p.Gln375=) rs2141036744
NM_144596.4(TTC8):c.114+15C>G
NM_144596.4(TTC8):c.114+19C>T
NM_144596.4(TTC8):c.114+7G>C
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.1281C>T (p.Asn427=)
NM_144596.4(TTC8):c.1308C>T (p.Asn436=) rs756352262
NM_144596.4(TTC8):c.1327C>A (p.Arg443=) rs140698625
NM_144596.4(TTC8):c.1347+7G>C rs774856265
NM_144596.4(TTC8):c.1356A>G (p.Ala452=) rs2141044281
NM_144596.4(TTC8):c.1401G>T (p.Pro467=)
NM_144596.4(TTC8):c.1431+10T>G
NM_144596.4(TTC8):c.1431+20_1431+24del
NM_144596.4(TTC8):c.1431+8C>G
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.1491C>T (p.Asp497=) rs886050878
NM_144596.4(TTC8):c.1503A>G (p.Thr501=) rs1754480274
NM_144596.4(TTC8):c.1530G>A (p.Gln510=)
NM_144596.4(TTC8):c.156C>T (p.Ile52=) rs2140973252
NM_144596.4(TTC8):c.174A>G (p.Leu58=)
NM_144596.4(TTC8):c.177A>G (p.Thr59=)
NM_144596.4(TTC8):c.222T>C (p.Ile74=)
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.266-4C>A
NM_144596.4(TTC8):c.276G>A (p.Thr92=)
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.354C>A (p.Pro118=) rs2140976722
NM_144596.4(TTC8):c.366C>T (p.Phe122=)
NM_144596.4(TTC8):c.375C>T (p.Pro125=)
NM_144596.4(TTC8):c.381G>A (p.Thr127=)
NM_144596.4(TTC8):c.390A>G (p.Gly130=)
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.465C>G (p.Ser155=)
NM_144596.4(TTC8):c.477C>T (p.Val159=)
NM_144596.4(TTC8):c.490-9C>A rs770386094
NM_144596.4(TTC8):c.490-9C>T rs770386094
NM_144596.4(TTC8):c.507T>C (p.Ser169=)
NM_144596.4(TTC8):c.528T>C (p.Asn176=) rs1555391010
NM_144596.4(TTC8):c.52A>C (p.Arg18=)
NM_144596.4(TTC8):c.552G>A (p.Lys184=) rs2094781397
NM_144596.4(TTC8):c.579+19T>G
NM_144596.4(TTC8):c.579+7A>G rs2140977991
NM_144596.4(TTC8):c.585G>A (p.Leu195=)
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.69C>T (p.Cys23=) rs749406406
NM_144596.4(TTC8):c.711-13T>C
NM_144596.4(TTC8):c.729A>G (p.Glu243=)
NM_144596.4(TTC8):c.738A>G (p.Lys246=)
NM_144596.4(TTC8):c.777T>C (p.Asp259=) rs1164321723
NM_144596.4(TTC8):c.784C>T (p.Leu262=)
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.799-20G>T
NM_144596.4(TTC8):c.810A>C (p.Ser270=)
NM_144596.4(TTC8):c.864T>C (p.Phe288=)
NM_144596.4(TTC8):c.882G>A (p.Leu294=)
NM_144596.4(TTC8):c.903C>T (p.Ile301=) rs2141016259
NM_144596.4(TTC8):c.909+10G>A rs1566851784
NM_144596.4(TTC8):c.942T>C (p.Tyr314=) rs1340345868
NM_144596.4(TTC8):c.948A>G (p.Lys316=)
NM_144596.4(TTC8):c.96G>A (p.Glu32=)
NM_152384.3(BBS5):c.1005A>G (p.Gly335=)
NM_152384.3(BBS5):c.1023T>C (p.Ser341=) rs1488371231
NM_152384.3(BBS5):c.108C>A (p.Ser36=)
NM_152384.3(BBS5):c.120C>A (p.Thr40=)
NM_152384.3(BBS5):c.135A>G (p.Gly45=)
NM_152384.3(BBS5):c.142+19G>A
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.143-7C>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.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.208+13G>T
NM_152384.3(BBS5):c.209-17T>C
NM_152384.3(BBS5):c.209-19C>T
NM_152384.3(BBS5):c.210T>C (p.Ser70=)
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.255C>T (p.Asn85=)
NM_152384.3(BBS5):c.258+14A>G
NM_152384.3(BBS5):c.258+19A>G
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.259-7C>G
NM_152384.3(BBS5):c.259-8C>T
NM_152384.3(BBS5):c.342T>G (p.Val114=)
NM_152384.3(BBS5):c.345T>G (p.Pro115=)
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.424T>C (p.Leu142=)
NM_152384.3(BBS5):c.45C>T (p.Phe15=)
NM_152384.3(BBS5):c.477T>C (p.His159=)
NM_152384.3(BBS5):c.492A>C (p.Ile164=)
NM_152384.3(BBS5):c.522+10A>G
NM_152384.3(BBS5):c.522+8G>A
NM_152384.3(BBS5):c.523-4A>G
NM_152384.3(BBS5):c.531A>G (p.Leu177=) rs2105298185
NM_152384.3(BBS5):c.54C>A (p.Ser18=)
NM_152384.3(BBS5):c.54C>G (p.Ser18=)
NM_152384.3(BBS5):c.576T>C (p.Asn192=)
NM_152384.3(BBS5):c.57G>T (p.Ala19=) rs2105290048
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.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.60-7A>T
NM_152384.3(BBS5):c.60-9T>G
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.619-19_619-14del rs776922529
NM_152384.3(BBS5):c.642A>G (p.Ser214=)
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+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.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.720G>A (p.Val240=)
NM_152384.3(BBS5):c.729A>T (p.Leu243=)
NM_152384.3(BBS5):c.789T>C (p.Phe263=)
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.825G>T (p.Pro275=)
NM_152384.3(BBS5):c.828C>T (p.Leu276=)
NM_152384.3(BBS5):c.843C>T (p.Val281=)
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.885C>T (p.His295=) rs752240452