ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3198
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_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_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_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198 0.00041
NM_176824.3(BBS7):c.1890+9_1890+10del rs772355304 0.00041
NM_015910.7(WDPCP):c.826-8C>A rs201860952 0.00040
NM_024685.4(BBS10):c.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_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
NM_152384.3(BBS5):c.894T>G (p.Ala298=)
NM_152384.3(BBS5):c.900+9C>A
NM_152384.3(BBS5):c.901-11T>G
NM_152384.3(BBS5):c.901-6T>C
NM_152384.3(BBS5):c.906T>C (p.Tyr302=)
NM_152384.3(BBS5):c.918C>A (p.Gly306=)
NM_152384.3(BBS5):c.924+11T>G
NM_152384.3(BBS5):c.924+12T>A
NM_152384.3(BBS5):c.924+16T>G
NM_152384.3(BBS5):c.925-19C>G
NM_152384.3(BBS5):c.960G>A (p.Leu320=)
NM_152384.3(BBS5):c.963G>A (p.Gly321=)
NM_152384.3(BBS5):c.966T>G (p.Leu322=) rs1683865980
NM_152384.3(BBS5):c.969A>C (p.Ala323=)
NM_152384.3(BBS5):c.999A>G (p.Leu333=)
NM_152618.3(BBS12):c.1002T>C (p.Tyr334=) rs2150736743
NM_152618.3(BBS12):c.1005C>A (p.Ile335=)
NM_152618.3(BBS12):c.1014G>A (p.Val338=)
NM_152618.3(BBS12):c.1020A>G (p.Val340=)
NM_152618.3(BBS12):c.1020A>T (p.Val340=)
NM_152618.3(BBS12):c.1026T>C (p.Asn342=)
NM_152618.3(BBS12):c.1045T>C (p.Leu349=)
NM_152618.3(BBS12):c.1047G>A (p.Leu349=) rs1800907366
NM_152618.3(BBS12):c.1053T>C (p.Asn351=)
NM_152618.3(BBS12):c.1062G>A (p.Val354=) rs34296401
NM_152618.3(BBS12):c.1083T>A (p.Gly361=) rs2150736847
NM_152618.3(BBS12):c.1083T>G (p.Gly361=) rs2150736847
NM_152618.3(BBS12):c.108C>A (p.Ser36=)
NM_152618.3(BBS12):c.1095G>A (p.Glu365=) rs569907220
NM_152618.3(BBS12):c.1098T>C (p.Asn366=) rs2150736872
NM_152618.3(BBS12):c.1134T>A (p.Ile378=)
NM_152618.3(BBS12):c.1140A>C (p.Thr380=)
NM_152618.3(BBS12):c.1185G>T (p.Leu395=)
NM_152618.3(BBS12):c.1209G>C (p.Val403=) rs17006092
NM_152618.3(BBS12):c.1224G>A (p.Lys408=)
NM_152618.3(BBS12):c.1227G>C (p.Val409=) rs1800914880
NM_152618.3(BBS12):c.1233T>C (p.Leu411=)
NM_152618.3(BBS12):c.1239G>A (p.Leu413=)
NM_152618.3(BBS12):c.1251T>C (p.Asn417=)
NM_152618.3(BBS12):c.1254G>T (p.Val418=) rs2150737077
NM_152618.3(BBS12):c.1264T>C (p.Leu422=) rs2150737086
NM_152618.3(BBS12):c.129A>G (p.Glu43=) rs2150735912
NM_152618.3(BBS12):c.12T>C (p.Ala4=) rs1578489401
NM_152618.3(BBS12):c.1302C>A (p.Ile434=)
NM_152618.3(BBS12):c.1305C>T (p.Gly435=)
NM_152618.3(BBS12):c.1314T>C (p.Asn438=)
NM_152618.3(BBS12):c.1317C>A (p.Gly439=)
NM_152618.3(BBS12):c.1320T>C (p.Ser440=) rs2150737145
NM_152618.3(BBS12):c.1356A>G (p.Val452=) rs1264207326
NM_152618.3(BBS12):c.135T>C (p.His45=) rs916863378
NM_152618.3(BBS12):c.1362G>T (p.Val454=) rs1800918797
NM_152618.3(BBS12):c.1365C>A (p.Ala455=) rs1191099924
NM_152618.3(BBS12):c.1368C>T (p.Tyr456=) rs2150737194
NM_152618.3(BBS12):c.1380G>A (p.Val460=) rs13135766
NM_152618.3(BBS12):c.1386A>G (p.Glu462=)
NM_152618.3(BBS12):c.1389T>C (p.Asp463=) rs1578491378
NM_152618.3(BBS12):c.1395G>A (p.Val465=) rs2150737249
NM_152618.3(BBS12):c.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1407C>G (p.Val469=) rs1800921145
NM_152618.3(BBS12):c.1407C>T (p.Val469=)
NM_152618.3(BBS12):c.141T>C (p.Ser47=)
NM_152618.3(BBS12):c.1428C>T (p.Ser476=)
NM_152618.3(BBS12):c.1446A>G (p.Val482=)
NM_152618.3(BBS12):c.1449T>C (p.Asp483=) rs2150737320
NM_152618.3(BBS12):c.1459A>C (p.Arg487=) rs772894742
NM_152618.3(BBS12):c.1461A>G (p.Arg487=)
NM_152618.3(BBS12):c.1467A>C (p.Ala489=)
NM_152618.3(BBS12):c.1476A>G (p.Leu492=)
NM_152618.3(BBS12):c.147A>G (p.Leu49=)
NM_152618.3(BBS12):c.1482A>C (p.Thr494=)
NM_152618.3(BBS12):c.1482A>G (p.Thr494=) rs1460811850
NM_152618.3(BBS12):c.1482A>T (p.Thr494=)
NM_152618.3(BBS12):c.1500T>C (p.Val500=)
NM_152618.3(BBS12):c.1503G>A (p.Thr501=)
NM_152618.3(BBS12):c.150C>T (p.Ile50=)
NM_152618.3(BBS12):c.1518C>T (p.Asn506=) rs2292494
NM_152618.3(BBS12):c.1524T>G (p.Val508=)
NM_152618.3(BBS12):c.1527T>C (p.Thr509=)
NM_152618.3(BBS12):c.1530A>T (p.Ala510=) rs1261261490
NM_152618.3(BBS12):c.1542C>A (p.Ile514=)
NM_152618.3(BBS12):c.1548A>G (p.Glu516=) rs2150737441
NM_152618.3(BBS12):c.1563A>G (p.Thr521=)
NM_152618.3(BBS12):c.1569C>G (p.Ala523=)
NM_152618.3(BBS12):c.1569C>T (p.Ala523=) rs1800926454
NM_152618.3(BBS12):c.1584T>C (p.Tyr528=) rs1200669244
NM_152618.3(BBS12):c.1587T>C (p.Ala529=) rs2150737498
NM_152618.3(BBS12):c.1588C>T (p.Leu530=) rs774541720
NM_152618.3(BBS12):c.1596G>A (p.Glu532=) rs1477880509
NM_152618.3(BBS12):c.1605C>A (p.Val535=)
NM_152618.3(BBS12):c.1605C>G (p.Val535=)
NM_152618.3(BBS12):c.1611T>C (p.Leu537=) rs536542331
NM_152618.3(BBS12):c.1614A>G (p.Gly538=)
NM_152618.3(BBS12):c.1617T>G (p.Gly539=) rs1332032760
NM_152618.3(BBS12):c.1620T>A (p.Gly540=) rs1335150440
NM_152618.3(BBS12):c.1635G>A (p.Leu545=) rs1800929032
NM_152618.3(BBS12):c.1638T>C (p.Cys546=) rs2150737570
NM_152618.3(BBS12):c.163A>C (p.Arg55=) rs765761292
NM_152618.3(BBS12):c.1653T>C (p.His551=) rs1800929267
NM_152618.3(BBS12):c.165G>A (p.Arg55=) rs1160982211
NM_152618.3(BBS12):c.1668A>G (p.Gln556=) rs2150737604
NM_152618.3(BBS12):c.1671T>G (p.Ser557=)
NM_152618.3(BBS12):c.1695C>T (p.Cys565=)
NM_152618.3(BBS12):c.1698A>C (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.1698A>G (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.1698A>T (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.16A>C (p.Arg6=)
NM_152618.3(BBS12):c.1716T>C (p.Thr572=) rs1578491962
NM_152618.3(BBS12):c.1731T>C (p.Ala577=)
NM_152618.3(BBS12):c.1761G>C (p.Val587=) rs2150737711
NM_152618.3(BBS12):c.1764T>A (p.Leu588=)
NM_152618.3(BBS12):c.1764T>C (p.Leu588=) rs2150737718
NM_152618.3(BBS12):c.1773G>A (p.Leu591=)
NM_152618.3(BBS12):c.1779T>C (p.Asn593=)
NM_152618.3(BBS12):c.1812T>C (p.Tyr604=) rs1560708733
NM_152618.3(BBS12):c.1815C>T (p.Asn605=) rs779671886
NM_152618.3(BBS12):c.1830A>C (p.Ser610=) rs528535207
NM_152618.3(BBS12):c.1851A>G (p.Thr617=)
NM_152618.3(BBS12):c.1857T>C (p.Ile619=)
NM_152618.3(BBS12):c.1878C>A (p.Ala626=) rs1800935621
NM_152618.3(BBS12):c.1887T>C (p.Ser629=)
NM_152618.3(BBS12):c.1899A>T (p.Ser633=) rs892531107
NM_152618.3(BBS12):c.189C>T (p.Thr63=) rs2150735963
NM_152618.3(BBS12):c.1902T>C (p.Ser634=) rs2150737878
NM_152618.3(BBS12):c.1905C>T (p.Tyr635=)
NM_152618.3(BBS12):c.1917A>G (p.Glu639=) rs2150737890
NM_152618.3(BBS12):c.1935T>C (p.Ser645=)
NM_152618.3(BBS12):c.1950A>G (p.Ser650=)
NM_152618.3(BBS12):c.1965A>G (p.Lys655=) rs1223815928
NM_152618.3(BBS12):c.1966C>T (p.Leu656=)
NM_152618.3(BBS12):c.1980G>T (p.Pro660=) rs778953866
NM_152618.3(BBS12):c.1989T>C (p.Tyr663=) rs2150737974
NM_152618.3(BBS12):c.1992C>T (p.Asp664=) rs1553941594
NM_152618.3(BBS12):c.2004A>C (p.Pro668=)
NM_152618.3(BBS12):c.2004A>G (p.Pro668=) rs2150738003
NM_152618.3(BBS12):c.2007G>A (p.Lys669=)
NM_152618.3(BBS12):c.2010T>A (p.Ile670=)
NM_152618.3(BBS12):c.2013G>A (p.Glu671=) rs777175466
NM_152618.3(BBS12):c.201A>T (p.Gly67=)
NM_152618.3(BBS12):c.2022C>T (p.Arg674=) rs2150738042
NM_152618.3(BBS12):c.2028A>G (p.Ala676=)
NM_152618.3(BBS12):c.2029T>C (p.Leu677=) rs1578492416
NM_152618.3(BBS12):c.2037A>G (p.Leu679=) rs1553941612
NM_152618.3(BBS12):c.2044T>C (p.Leu682=)
NM_152618.3(BBS12):c.2046A>G (p.Leu682=) rs2150738093
NM_152618.3(BBS12):c.2049A>G (p.Val683=) rs2150738097
NM_152618.3(BBS12):c.204A>G (p.Gln68=) rs2150735975
NM_152618.3(BBS12):c.2061C>T (p.Asp687=)
NM_152618.3(BBS12):c.2079A>G (p.Gly693=) rs1166099987
NM_152618.3(BBS12):c.2082T>C (p.His694=)
NM_152618.3(BBS12):c.2097A>C (p.Ile699=)
NM_152618.3(BBS12):c.2115G>A (p.Thr705=)
NM_152618.3(BBS12):c.21C>A (p.Val7=) rs754702110
NM_152618.3(BBS12):c.222T>G (p.Val74=) rs778792181
NM_152618.3(BBS12):c.228A>G (p.Ala76=)
NM_152618.3(BBS12):c.231A>G (p.Gln77=) rs1232888793
NM_152618.3(BBS12):c.234C>T (p.Asn78=) rs2150736009
NM_152618.3(BBS12):c.240A>G (p.Thr80=)
NM_152618.3(BBS12):c.249T>C (p.Thr83=) rs2150736023
NM_152618.3(BBS12):c.270T>C (p.Phe90=)
NM_152618.3(BBS12):c.291T>C (p.Ser97=) rs2150736048
NM_152618.3(BBS12):c.294A>G (p.Ala98=)
NM_152618.3(BBS12):c.318T>C (p.Gly106=) rs1578489832
NM_152618.3(BBS12):c.351A>G (p.Ser117=)
NM_152618.3(BBS12):c.366T>C (p.Phe122=) rs907426686
NM_152618.3(BBS12):c.381A>G (p.Val127=)
NM_152618.3(BBS12):c.396A>C (p.Val132=)
NM_152618.3(BBS12):c.396A>G (p.Val132=)
NM_152618.3(BBS12):c.450T>G (p.Leu150=) rs2150736218
NM_152618.3(BBS12):c.489C>G (p.Val163=)
NM_152618.3(BBS12):c.501T>C (p.Thr167=) rs771669469
NM_152618.3(BBS12):c.507G>A (p.Leu169=)
NM_152618.3(BBS12):c.513G>A (p.Glu171=)
NM_152618.3(BBS12):c.516A>G (p.Glu172=)
NM_152618.3(BBS12):c.517T>C (p.Leu173=) rs2150736262
NM_152618.3(BBS12):c.522T>C (p.His174=)
NM_152618.3(BBS12):c.525T>C (p.Gly175=) rs2150736282
NM_152618.3(BBS12):c.54A>G (p.Gln18=)
NM_152618.3(BBS12):c.550C>T (p.Leu184=) rs1800894066
NM_152618.3(BBS12):c.552G>A (p.Leu184=)
NM_152618.3(BBS12):c.555C>T (p.Thr185=) rs1800894181
NM_152618.3(BBS12):c.576A>G (p.Arg192=)
NM_152618.3(BBS12):c.579T>C (p.Pro193=) rs1354832386
NM_152618.3(BBS12):c.57T>G (p.Leu19=) rs2150735813
NM_152618.3(BBS12):c.588A>T (p.Ser196=) rs1214671198
NM_152618.3(BBS12):c.642A>T (p.Arg214=) rs1297157123
NM_152618.3(BBS12):c.648G>A (p.Leu216=)
NM_152618.3(BBS12):c.660G>C (p.Leu220=) rs768514500
NM_152618.3(BBS12):c.663T>G (p.Leu221=) rs2150736396
NM_152618.3(BBS12):c.672C>A (p.Thr224=)
NM_152618.3(BBS12):c.681A>G (p.Arg227=) rs2150736417
NM_152618.3(BBS12):c.708T>C (p.His236=)
NM_152618.3(BBS12):c.714T>C (p.Asn238=)
NM_152618.3(BBS12):c.715A>C (p.Arg239=) rs1800898589
NM_152618.3(BBS12):c.720A>G (p.Thr240=)
NM_152618.3(BBS12):c.729T>C (p.Thr243=)
NM_152618.3(BBS12):c.72A>G (p.Glu24=) rs2150735852
NM_152618.3(BBS12):c.753A>G (p.Gly251=) rs2150736488
NM_152618.3(BBS12):c.756T>C (p.Phe252=)
NM_152618.3(BBS12):c.75A>C (p.Thr25=) rs754811440
NM_152618.3(BBS12):c.771A>T (p.Thr257=)
NM_152618.3(BBS12):c.774T>G (p.Ala258=)
NM_152618.3(BBS12):c.780C>T (p.His260=)
NM_152618.3(BBS12):c.798T>C (p.Asn266=)
NM_152618.3(BBS12):c.840C>T (p.His280=) rs2150736581
NM_152618.3(BBS12):c.852G>A (p.Lys284=)
NM_152618.3(BBS12):c.855A>G (p.Leu285=)
NM_152618.3(BBS12):c.874C>T (p.Leu292=)
NM_152618.3(BBS12):c.87C>T (p.Phe29=) rs2150735866
NM_152618.3(BBS12):c.891T>C (p.Ala297=) rs2150736617
NM_152618.3(BBS12):c.900A>G (p.Gln300=)
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.906C>T (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.948C>T (p.Phe316=)
NM_152618.3(BBS12):c.951T>C (p.Thr317=)
NM_152618.3(BBS12):c.960A>G (p.Leu320=)
NM_152618.3(BBS12):c.96A>G (p.Pro32=)
NM_152618.3(BBS12):c.975A>G (p.Glu325=) rs2150736709
NM_152618.3(BBS12):c.978T>G (p.Thr326=)
NM_152618.3(BBS12):c.97C>T (p.Leu33=) rs1011665825
NM_152618.3(BBS12):c.981T>G (p.Ser327=) rs2150736715
NM_152618.3(BBS12):c.990T>C (p.Val330=)
NM_152618.3(BBS12):c.999A>T (p.Gly333=)
NM_152618.3(BBS12):c.99A>G (p.Leu33=) rs770875217
NM_176824.3(BBS7):c.102+16T>A
NM_176824.3(BBS7):c.102+8A>T
NM_176824.3(BBS7):c.103-10T>C
NM_176824.3(BBS7):c.103-4A>C rs374281147
NM_176824.3(BBS7):c.103-8T>C
NM_176824.3(BBS7):c.1037+19T>C
NM_176824.3(BBS7):c.1037+19T>G
NM_176824.3(BBS7):c.1037+20T>G
NM_176824.3(BBS7):c.1037+9_1037+14del
NM_176824.3(BBS7):c.1038-5T>G
NM_176824.3(BBS7):c.1038-7T>C
NM_176824.3(BBS7):c.1047G>A (p.Leu349=)
NM_176824.3(BBS7):c.1083G>A (p.Glu361=)
NM_176824.3(BBS7):c.1104A>G (p.Gln368=)
NM_176824.3(BBS7):c.1116A>G (p.Ala372=) rs2149068875
NM_176824.3(BBS7):c.1119A>G (p.Lys373=)
NM_176824.3(BBS7):c.114A>C (p.Gly38=)
NM_176824.3(BBS7):c.1158A>C (p.Thr386=)
NM_176824.3(BBS7):c.1158A>T (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr) rs542274936
NM_176824.3(BBS7):c.1221C>A (p.Val407=)
NM_176824.3(BBS7):c.1221C>G (p.Val407=) rs760247807
NM_176824.3(BBS7):c.1231-11A>G
NM_176824.3(BBS7):c.1231-4A>C
NM_176824.3(BBS7):c.1231-4A>G
NM_176824.3(BBS7):c.1231-4A>T
NM_176824.3(BBS7):c.1257T>C (p.Asp419=)
NM_176824.3(BBS7):c.1263T>C (p.Asp421=)
NM_176824.3(BBS7):c.1284C>T (p.Ser428=)
NM_176824.3(BBS7):c.1287T>C (p.Phe429=)
NM_176824.3(BBS7):c.1302T>C (p.Ser434=)
NM_176824.3(BBS7):c.1305+15A>G
NM_176824.3(BBS7):c.1305+17_1305+21del rs2149066719
NM_176824.3(BBS7):c.1305+19G>T
NM_176824.3(BBS7):c.1305+7A>G
NM_176824.3(BBS7):c.1306-13G>A
NM_176824.3(BBS7):c.1306-18A>G
NM_176824.3(BBS7):c.1306-4C>A
NM_176824.3(BBS7):c.1356A>G (p.Thr452=)
NM_176824.3(BBS7):c.1360C>T (p.Leu454=)
NM_176824.3(BBS7):c.1371+11T>G
NM_176824.3(BBS7):c.1371+13G>T
NM_176824.3(BBS7):c.1371+8T>A rs2149061801
NM_176824.3(BBS7):c.1372-10G>A
NM_176824.3(BBS7):c.1372-11T>C
NM_176824.3(BBS7):c.1372-12G>A
NM_176824.3(BBS7):c.1372-19C>G rs1725398365
NM_176824.3(BBS7):c.1372-20C>T
NM_176824.3(BBS7):c.1389C>A (p.Gly463=)
NM_176824.3(BBS7):c.1402C>T (p.Leu468=)
NM_176824.3(BBS7):c.1404A>G (p.Leu468=)
NM_176824.3(BBS7):c.1410A>G (p.Ala470=) rs1725394181
NM_176824.3(BBS7):c.1425A>G (p.Arg475=)
NM_176824.3(BBS7):c.1473T>A (p.Leu491=) rs757900989
NM_176824.3(BBS7):c.1485A>G (p.Gln495=)
NM_176824.3(BBS7):c.1488A>G (p.Arg496=)
NM_176824.3(BBS7):c.1491T>G (p.Thr497=)
NM_176824.3(BBS7):c.1511+16G>A
NM_176824.3(BBS7):c.1511+18G>A
NM_176824.3(BBS7):c.1512-14C>A rs759936975
NM_176824.3(BBS7):c.1512-18T>C
NM_176824.3(BBS7):c.1512-20C>T
NM_176824.3(BBS7):c.1515C>T (p.Pro505=)
NM_176824.3(BBS7):c.153A>G (p.Lys51=)
NM_176824.3(BBS7):c.1545C>T (p.Phe515=)
NM_176824.3(BBS7):c.1554T>G (p.Ala518=)
NM_176824.3(BBS7):c.1563C>T (p.His521=) rs2149054316
NM_176824.3(BBS7):c.1590A>G (p.Glu530=)
NM_176824.3(BBS7):c.1605T>G (p.Pro535=)
NM_176824.3(BBS7):c.1611A>C (p.Ala537=)
NM_176824.3(BBS7):c.1611A>G (p.Ala537=)
NM_176824.3(BBS7):c.165+20G>A
NM_176824.3(BBS7):c.165+20G>T
NM_176824.3(BBS7):c.166-15A>C
NM_176824.3(BBS7):c.166-18C>G
NM_176824.3(BBS7):c.166-20_166-19del
NM_176824.3(BBS7):c.1671C>A (p.Thr557=)
NM_176824.3(BBS7):c.1676+13T>C
NM_176824.3(BBS7):c.1677-14T>C
NM_176824.3(BBS7):c.1698A>G (p.Lys566=)
NM_176824.3(BBS7):c.1728A>G (p.Leu576=)
NM_176824.3(BBS7):c.174C>T (p.Phe58=)
NM_176824.3(BBS7):c.1786+10_1786+13del
NM_176824.3(BBS7):c.1786+14A>G
NM_176824.3(BBS7):c.1786+20_1786+22del
NM_176824.3(BBS7):c.1786+8A>T
NM_176824.3(BBS7):c.1787-11A>C rs779593410
NM_176824.3(BBS7):c.1787-14T>C
NM_176824.3(BBS7):c.1787-16G>T
NM_176824.3(BBS7):c.1787-19del
NM_176824.3(BBS7):c.1803A>T (p.Ser601=)
NM_176824.3(BBS7):c.1812C>T (p.His604=)
NM_176824.3(BBS7):c.1818A>G (p.Leu606=)
NM_176824.3(BBS7):c.1822C>T (p.Leu608=)
NM_176824.3(BBS7):c.1830C>T (p.His610=)
NM_176824.3(BBS7):c.1849T>C (p.Leu617=)
NM_176824.3(BBS7):c.186C>G (p.Pro62=)
NM_176824.3(BBS7):c.1881T>C (p.Asp627=)
NM_176824.3(BBS7):c.1890+15C>T rs761350391
NM_176824.3(BBS7):c.1890+15_1890+16delinsTA rs2149048318
NM_176824.3(BBS7):c.1890+16G>C
NM_176824.3(BBS7):c.1890+17T>C
NM_176824.3(BBS7):c.1890+18C>T
NM_176824.3(BBS7):c.1890+19G>T
NM_176824.3(BBS7):c.1890+8C>T
NM_176824.3(BBS7):c.1890+9A>G
NM_176824.3(BBS7):c.1891-16T>G
NM_176824.3(BBS7):c.1908G>A (p.Glu636=)
NM_176824.3(BBS7):c.1948C>T (p.Leu650=)
NM_176824.3(BBS7):c.1953A>G (p.Glu651=)
NM_176824.3(BBS7):c.1965C>T (p.His655=)
NM_176824.3(BBS7):c.1966C>T (p.Leu656=)
NM_176824.3(BBS7):c.1968A>G (p.Leu656=)
NM_176824.3(BBS7):c.1992T>C (p.Pro664=) rs1724995426
NM_176824.3(BBS7):c.1995A>C (p.Ala665=)
NM_176824.3(BBS7):c.19C>A (p.Arg7=)
NM_176824.3(BBS7):c.2010C>T (p.Leu670=)
NM_176824.3(BBS7):c.2014+9A>G
NM_176824.3(BBS7):c.2015-17A>T rs1226821091
NM_176824.3(BBS7):c.2015-6T>C
NM_176824.3(BBS7):c.2016C>T (p.Gly672=)
NM_176824.3(BBS7):c.2034C>T (p.Phe678=) rs2149045756
NM_176824.3(BBS7):c.2046T>C (p.Phe682=) rs753884144
NM_176824.3(BBS7):c.2067A>G (p.Val689=)
NM_176824.3(BBS7):c.2073T>C (p.Thr691=) rs2149045672
NM_176824.3(BBS7):c.2133C>T (p.Phe711=)
NM_176824.3(BBS7):c.213G>C (p.Leu71=)
NM_176824.3(BBS7):c.2142A>G (p.Ala714=) rs2149045575
NM_176824.3(BBS7):c.219G>A (p.Gly73=)
NM_176824.3(BBS7):c.237G>A (p.Gln79=)
NM_176824.3(BBS7):c.249T>C (p.Phe83=)
NM_176824.3(BBS7):c.258A>G (p.Ala86=)
NM_176824.3(BBS7):c.282A>G (p.Thr94=)
NM_176824.3(BBS7):c.282A>T (p.Thr94=)
NM_176824.3(BBS7):c.291A>G (p.Gly97=)
NM_176824.3(BBS7):c.294A>G (p.Lys98=) rs2149087496
NM_176824.3(BBS7):c.300C>T (p.Phe100=) rs750255237
NM_176824.3(BBS7):c.303C>T (p.Leu101=)
NM_176824.3(BBS7):c.306C>A (p.Ser102=)
NM_176824.3(BBS7):c.339T>G (p.Ala113=)
NM_176824.3(BBS7):c.33G>A (p.Leu11=)
NM_176824.3(BBS7):c.341+10T>C
NM_176824.3(BBS7):c.341+12G>A
NM_176824.3(BBS7):c.341+17C>G
NM_176824.3(BBS7):c.341+20T>A
NM_176824.3(BBS7):c.341+20_341+21del rs755362565
NM_176824.3(BBS7):c.341+8T>C rs2149087412
NM_176824.3(BBS7):c.342-11A>G
NM_176824.3(BBS7):c.342-16A>T
NM_176824.3(BBS7):c.342-19A>G
NM_176824.3(BBS7):c.36+14A>T
NM_176824.3(BBS7):c.36+17G>A
NM_176824.3(BBS7):c.36+20C>T
NM_176824.3(BBS7):c.36+9A>G
NM_176824.3(BBS7):c.37-14G>A rs1727381941
NM_176824.3(BBS7):c.37-19A>C
NM_176824.3(BBS7):c.37-20C>T
NM_176824.3(BBS7):c.37-5T>C
NM_176824.3(BBS7):c.381C>T (p.Tyr127=)
NM_176824.3(BBS7):c.405C>T (p.Cys135=)
NM_176824.3(BBS7):c.417T>C (p.His139=)
NM_176824.3(BBS7):c.483C>A (p.Ile161=)
NM_176824.3(BBS7):c.48A>C (p.Thr16=)
NM_176824.3(BBS7):c.528+11T>A
NM_176824.3(BBS7):c.528+11T>C
NM_176824.3(BBS7):c.529-15dup
NM_176824.3(BBS7):c.529-7C>T
NM_176824.3(BBS7):c.529-7_529-5del rs758828904
NM_176824.3(BBS7):c.529-9C>G
NM_176824.3(BBS7):c.546T>C (p.Tyr182=)
NM_176824.3(BBS7):c.54G>A (p.Gln18=) rs754868012
NM_176824.3(BBS7):c.552T>C (p.Val184=)
NM_176824.3(BBS7):c.564A>G (p.Gly188=)
NM_176824.3(BBS7):c.567C>T (p.Pro189=) rs567185907
NM_176824.3(BBS7):c.579A>G (p.Leu193=)
NM_176824.3(BBS7):c.601+15A>G
NM_176824.3(BBS7):c.602-18G>A
NM_176824.3(BBS7):c.602-8A>G
NM_176824.3(BBS7):c.618C>T (p.Asp206=)
NM_176824.3(BBS7):c.627T>C (p.Phe209=) rs2149079198
NM_176824.3(BBS7):c.633A>G (p.Thr211=)
NM_176824.3(BBS7):c.666T>C (p.Thr222=)
NM_176824.3(BBS7):c.718+12A>C
NM_176824.3(BBS7):c.718+16A>T rs368687702
NM_176824.3(BBS7):c.718+20C>G
NM_176824.3(BBS7):c.719-20T>A
NM_176824.3(BBS7):c.719-20T>C
NM_176824.3(BBS7):c.726G>A (p.Leu242=) rs2149077327
NM_176824.3(BBS7):c.747T>C (p.Ile249=)
NM_176824.3(BBS7):c.756T>C (p.Asp252=)
NM_176824.3(BBS7):c.78C>G (p.Ala26=)
NM_176824.3(BBS7):c.804G>A (p.Val268=)
NM_176824.3(BBS7):c.81A>G (p.Ser27=)
NM_176824.3(BBS7):c.835C>T (p.Leu279=)
NM_176824.3(BBS7):c.849+12A>G
NM_176824.3(BBS7):c.849+12A>T
NM_176824.3(BBS7):c.849+17A>G
NM_176824.3(BBS7):c.849+9A>G
NM_176824.3(BBS7):c.849+9A>T
NM_176824.3(BBS7):c.850-20T>C
NM_176824.3(BBS7):c.850-8T>G
NM_176824.3(BBS7):c.867C>A (p.Val289=)
NM_176824.3(BBS7):c.867C>G (p.Val289=)
NM_176824.3(BBS7):c.87C>T (p.His29=)
NM_176824.3(BBS7):c.894A>G (p.Gly298=)
NM_176824.3(BBS7):c.927A>C (p.Thr309=) rs771825770
NM_176824.3(BBS7):c.934+10A>C
NM_176824.3(BBS7):c.934+10A>G
NM_176824.3(BBS7):c.934+11T>C rs1461872585
NM_176824.3(BBS7):c.934+17T>C rs1165897878
NM_176824.3(BBS7):c.935-4A>G
NM_176824.3(BBS7):c.935-8C>G
NM_176824.3(BBS7):c.945A>C (p.Thr315=)
NM_176824.3(BBS7):c.96A>T (p.Thr32=)
NM_176824.3(BBS7):c.987A>G (p.Gly329=)
NM_198428.3(BBS9):c.1000A>C (p.Arg334=)
NM_198428.3(BBS9):c.1016+19C>T
NM_198428.3(BBS9):c.1016+20A>G rs2128347768
NM_198428.3(BBS9):c.1016+7del
NM_198428.3(BBS9):c.1016+8A>G
NM_198428.3(BBS9):c.1016+8A>T
NM_198428.3(BBS9):c.1017-14C>T
NM_198428.3(BBS9):c.1017-4G>T
NM_198428.3(BBS9):c.1020T>C (p.Asp340=)
NM_198428.3(BBS9):c.102A>G (p.Gly34=)
NM_198428.3(BBS9):c.1035A>C (p.Ile345=)
NM_198428.3(BBS9):c.1042C>T (p.Leu348=)
NM_198428.3(BBS9):c.1053T>C (p.Asp351=)
NM_198428.3(BBS9):c.1059C>T (p.His353=) rs2128625827
NM_198428.3(BBS9):c.105T>C (p.Asn35=) rs577536627
NM_198428.3(BBS9):c.1065G>A (p.Gln355=) rs756380526
NM_198428.3(BBS9):c.1104T>G (p.Ala368=)
NM_198428.3(BBS9):c.1107A>G (p.Pro369=) rs1227576006
NM_198428.3(BBS9):c.1116A>G (p.Gln372=)
NM_198428.3(BBS9):c.112+11T>G rs1792345660
NM_198428.3(BBS9):c.112+18A>G
NM_198428.3(BBS9):c.112+19T>A
NM_198428.3(BBS9):c.112+21_112+22del
NM_198428.3(BBS9):c.1125A>G (p.Glu375=)
NM_198428.3(BBS9):c.1128A>G (p.Leu376=)
NM_198428.3(BBS9):c.113-17_113-16insG
NM_198428.3(BBS9):c.113-9T>C rs1793527699
NM_198428.3(BBS9):c.1134T>C (p.Tyr378=)
NM_198428.3(BBS9):c.1152A>G (p.Glu384=)
NM_198428.3(BBS9):c.1182T>C (p.Asp394=)
NM_198428.3(BBS9):c.1194A>G (p.Ser398=)
NM_198428.3(BBS9):c.1198+11T>C
NM_198428.3(BBS9):c.1198+12G>T
NM_198428.3(BBS9):c.1198+14A>T
NM_198428.3(BBS9):c.1198+15G>T
NM_198428.3(BBS9):c.1198+16C>G
NM_198428.3(BBS9):c.1198+9T>C
NM_198428.3(BBS9):c.1199-12T>C
NM_198428.3(BBS9):c.1200T>C (p.Gly400=)
NM_198428.3(BBS9):c.1221A>G (p.Arg407=)
NM_198428.3(BBS9):c.1245C>G (p.Val415=)
NM_198428.3(BBS9):c.1269A>G (p.Ser423=)
NM_198428.3(BBS9):c.1275+19T>A
NM_198428.3(BBS9):c.1276-10G>T
NM_198428.3(BBS9):c.1276-15del rs2128646892
NM_198428.3(BBS9):c.1281G>A (p.Ala427=)
NM_198428.3(BBS9):c.1302T>G (p.Thr434=) rs1173516747
NM_198428.3(BBS9):c.1305C>T (p.Asp435=) rs2128647066
NM_198428.3(BBS9):c.1308T>C (p.Leu436=) rs886043248
NM_198428.3(BBS9):c.1311C>G (p.Val437=)
NM_198428.3(BBS9):c.1323G>A (p.Thr441=)
NM_198428.3(BBS9):c.1329+11A>G
NM_198428.3(BBS9):c.1329+14T>A
NM_198428.3(BBS9):c.1329+9C>A rs747489914
NM_198428.3(BBS9):c.1330-10G>T
NM_198428.3(BBS9):c.1330-17A>G
NM_198428.3(BBS9):c.1330-18C>A rs547699537
NM_198428.3(BBS9):c.1330-18_1330-16del
NM_198428.3(BBS9):c.1330-19A>G
NM_198428.3(BBS9):c.1330-6C>T
NM_198428.3(BBS9):c.1335A>C (p.Thr445=)
NM_198428.3(BBS9):c.1335A>G (p.Thr445=)
NM_198428.3(BBS9):c.1344C>T (p.Asn448=)
NM_198428.3(BBS9):c.1354T>C (p.Leu452=)
NM_198428.3(BBS9):c.1359A>G (p.Gln453=)
NM_198428.3(BBS9):c.1380C>T (p.Tyr460=)
NM_198428.3(BBS9):c.1386A>G (p.Gln462=)
NM_198428.3(BBS9):c.1389A>G (p.Pro463=)
NM_198428.3(BBS9):c.1398A>G (p.Glu466=)
NM_198428.3(BBS9):c.1399T>C (p.Leu467=)
NM_198428.3(BBS9):c.1410T>C (p.Asp470=)
NM_198428.3(BBS9):c.1413G>A (p.Gln471=)
NM_198428.3(BBS9):c.1425A>G (p.Glu475=)
NM_198428.3(BBS9):c.1432+12G>A
NM_198428.3(BBS9):c.1432+12G>C
NM_198428.3(BBS9):c.1433-12C>A
NM_198428.3(BBS9):c.1433-19A>T
NM_198428.3(BBS9):c.1433-9T>C
NM_198428.3(BBS9):c.1441T>C (p.Leu481=)
NM_198428.3(BBS9):c.1443G>A (p.Leu481=)
NM_198428.3(BBS9):c.144C>T (p.Tyr48=)
NM_198428.3(BBS9):c.1491A>G (p.Pro497=)
NM_198428.3(BBS9):c.1498T>C (p.Leu500=)
NM_198428.3(BBS9):c.1506A>C (p.Gly502=)
NM_198428.3(BBS9):c.1515T>C (p.Val505=)
NM_198428.3(BBS9):c.1537+12G>C
NM_198428.3(BBS9):c.1537+13dup
NM_198428.3(BBS9):c.1537+20C>A
NM_198428.3(BBS9):c.1537+20C>T
NM_198428.3(BBS9):c.1537+9A>G rs2128667783
NM_198428.3(BBS9):c.1538-13C>A
NM_198428.3(BBS9):c.1538-13C>T
NM_198428.3(BBS9):c.1538-17T>C
NM_198428.3(BBS9):c.1538-4A>G
NM_198428.3(BBS9):c.1552+17T>C
NM_198428.3(BBS9):c.1553-12C>G
NM_198428.3(BBS9):c.1553-14C>T
NM_198428.3(BBS9):c.1553-20A>C
NM_198428.3(BBS9):c.1553-20A>G
NM_198428.3(BBS9):c.1553-8T>C
NM_198428.3(BBS9):c.1575T>C (p.Cys525=)
NM_198428.3(BBS9):c.1591C>T (p.Leu531=)
NM_198428.3(BBS9):c.1599A>G (p.Leu533=)
NM_198428.3(BBS9):c.1608A>G (p.Leu536=)
NM_198428.3(BBS9):c.1617G>A (p.Gln539=)
NM_198428.3(BBS9):c.1623A>G (p.Ser541=)
NM_198428.3(BBS9):c.1644T>A (p.Ile548=)
NM_198428.3(BBS9):c.165T>C (p.His55=)
NM_198428.3(BBS9):c.1671C>T (p.Val557=)
NM_198428.3(BBS9):c.1674T>C (p.Ser558=)
NM_198428.3(BBS9):c.1694-10T>C
NM_198428.3(BBS9):c.1694-4G>A
NM_198428.3(BBS9):c.1694-4G>C
NM_198428.3(BBS9):c.1694-6T>G rs28622379
NM_198428.3(BBS9):c.1701C>G (p.Ala567=)
NM_198428.3(BBS9):c.1716T>C (p.Asp572=)
NM_198428.3(BBS9):c.1725G>C (p.Val575=)
NM_198428.3(BBS9):c.1725G>T (p.Val575=)
NM_198428.3(BBS9):c.1743C>T (p.His581=)
NM_198428.3(BBS9):c.1749A>G (p.Leu583=) rs1822081249
NM_198428.3(BBS9):c.1767T>C (p.Thr589=) rs534722075
NM_198428.3(BBS9):c.1773T>C (p.Leu591=)
NM_198428.3(BBS9):c.1776T>G (p.Ala592=) rs2128714393
NM_198428.3(BBS9):c.1779C>T (p.Ser593=)
NM_198428.3(BBS9):c.177A>G (p.Thr59=)
NM_198428.3(BBS9):c.1789+12C>A
NM_198428.3(BBS9):c.1789+15G>C
NM_198428.3(BBS9):c.1790-13T>A
NM_198428.3(BBS9):c.1790-16A>C
NM_198428.3(BBS9):c.1790-17T>C rs765367261
NM_198428.3(BBS9):c.1790-18T>A rs2128748428
NM_198428.3(BBS9):c.1790-19C>T
NM_198428.3(BBS9):c.1790-20C>G
NM_198428.3(BBS9):c.1790-7C>A
NM_198428.3(BBS9):c.1794A>T (p.Arg598=)
NM_198428.3(BBS9):c.1809T>C (p.Ser603=)
NM_198428.3(BBS9):c.1824T>C (p.Asp608=)
NM_198428.3(BBS9):c.1833C>T (p.Leu611=)
NM_198428.3(BBS9):c.1845G>A (p.Glu615=)
NM_198428.3(BBS9):c.1860T>A (p.Leu620=)
NM_198428.3(BBS9):c.1863A>G (p.Gln621=)
NM_198428.3(BBS9):c.1884A>G (p.Gly628=)
NM_198428.3(BBS9):c.1893T>C (p.Asp631=)
NM_198428.3(BBS9):c.1899A>G (p.Ala633=)
NM_198428.3(BBS9):c.18C>T (p.Ala6=)
NM_198428.3(BBS9):c.1902T>C (p.Cys634=)
NM_198428.3(BBS9):c.1923C>A (p.Pro641=) rs886062287
NM_198428.3(BBS9):c.195C>A (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.1962+11T>C
NM_198428.3(BBS9):c.1962+17C>T
NM_198428.3(BBS9):c.1962+18C>A
NM_198428.3(BBS9):c.1962+18C>G
NM_198428.3(BBS9):c.1962+9G>A
NM_198428.3(BBS9):c.1963-10T>C
NM_198428.3(BBS9):c.1963-15A>G
NM_198428.3(BBS9):c.1963-18A>C
NM_198428.3(BBS9):c.1963-4G>A
NM_198428.3(BBS9):c.1963-8C>A
NM_198428.3(BBS9):c.1968G>C (p.Arg656=)
NM_198428.3(BBS9):c.198A>G (p.Glu66=)
NM_198428.3(BBS9):c.2016A>G (p.Gln672=) rs2128756519
NM_198428.3(BBS9):c.201T>C (p.Asp67=)
NM_198428.3(BBS9):c.2031A>G (p.Gln677=)
NM_198428.3(BBS9):c.2034C>T (p.Arg678=)
NM_198428.3(BBS9):c.2037G>A (p.Arg679=) rs774728969
NM_198428.3(BBS9):c.207T>C (p.Leu69=)
NM_198428.3(BBS9):c.2082C>T (p.His694=)
NM_198428.3(BBS9):c.2094G>A (p.Leu698=)
NM_198428.3(BBS9):c.2100T>C (p.Asp700=) rs1826369751
NM_198428.3(BBS9):c.2106C>G (p.Thr702=)
NM_198428.3(BBS9):c.2115+12A>G
NM_198428.3(BBS9):c.2115+15A>C
NM_198428.3(BBS9):c.2115+17dup rs1826376756
NM_198428.3(BBS9):c.2115+20_2115+21del
NM_198428.3(BBS9):c.2115+9A>G
NM_198428.3(BBS9):c.2116-12dup
NM_198428.3(BBS9):c.2116-13G>C
NM_198428.3(BBS9):c.2116-15T>C rs1846018417
NM_198428.3(BBS9):c.2116-17G>A
NM_198428.3(BBS9):c.2116-20G>T
NM_198428.3(BBS9):c.213A>G (p.Glu71=)
NM_198428.3(BBS9):c.2169A>G (p.Ser723=)
NM_198428.3(BBS9):c.2179C>T (p.Leu727=) rs373177157
NM_198428.3(BBS9):c.2190C>T (p.Ala730=)
NM_198428.3(BBS9):c.2193C>T (p.Thr731=)
NM_198428.3(BBS9):c.2217G>A (p.Ala739=) rs749322793
NM_198428.3(BBS9):c.2217G>T (p.Ala739=) rs749322793
NM_198428.3(BBS9):c.222A>G (p.Leu74=)
NM_198428.3(BBS9):c.2244G>A (p.Gln748=)
NM_198428.3(BBS9):c.2247T>C (p.Val749=)
NM_198428.3(BBS9):c.2250T>C (p.Ala750=)
NM_198428.3(BBS9):c.2262G>A (p.Ala754=) rs751886707
NM_198428.3(BBS9):c.2271G>C (p.Leu757=) rs2129016290
NM_198428.3(BBS9):c.2277A>G (p.Leu759=) rs1052268884
NM_198428.3(BBS9):c.228T>C (p.Asp76=)
NM_198428.3(BBS9):c.2298+16C>T
NM_198428.3(BBS9):c.2298+8C>A rs2129016313
NM_198428.3(BBS9):c.2299-12T>C
NM_198428.3(BBS9):c.2299-14G>C
NM_198428.3(BBS9):c.2299-19A>G
NM_198428.3(BBS9):c.2299-4C>G
NM_198428.3(BBS9):c.2310A>G (p.Glu770=)
NM_198428.3(BBS9):c.2331C>T (p.Ser777=)
NM_198428.3(BBS9):c.2337G>A (p.Leu779=) rs2129059212
NM_198428.3(BBS9):c.2346T>C (p.Thr782=)
NM_198428.3(BBS9):c.2355G>A (p.Ser785=) rs1403362656
NM_198428.3(BBS9):c.2355G>C (p.Ser785=) rs1403362656
NM_198428.3(BBS9):c.2355G>T (p.Ser785=)
NM_198428.3(BBS9):c.2376T>G (p.Ala792=)
NM_198428.3(BBS9):c.2388C>T (p.Asn796=)
NM_198428.3(BBS9):c.2391C>T (p.Ser797=)
NM_198428.3(BBS9):c.2397G>A (p.Leu799=)
NM_198428.3(BBS9):c.2412C>T (p.Asp804=)
NM_198428.3(BBS9):c.2421A>G (p.Gln807=)
NM_198428.3(BBS9):c.2439C>A (p.Thr813=)
NM_198428.3(BBS9):c.2445C>T (p.Leu815=)
NM_198428.3(BBS9):c.2463A>G (p.Lys821=)
NM_198428.3(BBS9):c.2481A>G (p.Leu827=)
NM_198428.3(BBS9):c.2487C>A (p.Thr829=)
NM_198428.3(BBS9):c.2499C>T (p.Ala833=) rs1163398668
NM_198428.3(BBS9):c.249A>C (p.Val83=)
NM_198428.3(BBS9):c.2505G>A (p.Gln835=)
NM_198428.3(BBS9):c.2521+11dup
NM_198428.3(BBS9):c.2521+16A>C
NM_198428.3(BBS9):c.2521+19C>G
NM_198428.3(BBS9):c.2521+20T>C
NM_198428.3(BBS9):c.2522-13A>C
NM_198428.3(BBS9):c.2522-15G>C
NM_198428.3(BBS9):c.2522-7C>A
NM_198428.3(BBS9):c.2522-7del
NM_198428.3(BBS9):c.2550C>T (p.Asp850=)
NM_198428.3(BBS9):c.2562A>G (p.Arg854=)
NM_198428.3(BBS9):c.2565A>G (p.Ser855=)
NM_198428.3(BBS9):c.261T>G (p.Val87=) rs2128108429
NM_198428.3(BBS9):c.2625C>T (p.Pro875=)
NM_198428.3(BBS9):c.2626A>C (p.Arg876=)
NM_198428.3(BBS9):c.2628G>A (p.Arg876=)
NM_198428.3(BBS9):c.263+13A>G
NM_198428.3(BBS9):c.263+16A>G
NM_198428.3(BBS9):c.2632+10del
NM_198428.3(BBS9):c.2632+13A>T
NM_198428.3(BBS9):c.2632+8A>C
NM_198428.3(BBS9):c.2633-11T>C
NM_198428.3(BBS9):c.2633-16C>T
NM_198428.3(BBS9):c.2633-16CT[2]
NM_198428.3(BBS9):c.2633-5T>C
NM_198428.3(BBS9):c.2633-6T>C rs2129208551
NM_198428.3(BBS9):c.264-10T>C
NM_198428.3(BBS9):c.264-11C>G
NM_198428.3(BBS9):c.264-11_264-10del
NM_198428.3(BBS9):c.264-12T>G
NM_198428.3(BBS9):c.264-14T>C
NM_198428.3(BBS9):c.264-14T>G rs759013829
NM_198428.3(BBS9):c.264-16T>G
NM_198428.3(BBS9):c.264-4T>C
NM_198428.3(BBS9):c.2643C>T (p.Pro881=) rs2129208595
NM_198428.3(BBS9):c.2646C>T (p.Leu882=)
NM_198428.3(BBS9):c.279A>G (p.Leu93=)
NM_198428.3(BBS9):c.315C>G (p.Val105=) rs1051716854
NM_198428.3(BBS9):c.321T>G (p.Ser107=) rs2128114803
NM_198428.3(BBS9):c.324C>A (p.Val108=)
NM_198428.3(BBS9):c.328+11T>C rs1793997816
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTGAG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+16A>C rs749205665
NM_198428.3(BBS9):c.328+16_328+27del rs770155616
NM_198428.3(BBS9):c.328+20A>G
NM_198428.3(BBS9):c.328+7A>T
NM_198428.3(BBS9):c.329-13T>C
NM_198428.3(BBS9):c.329-19C>T
NM_198428.3(BBS9):c.329-19_329-17del
NM_198428.3(BBS9):c.329-5del rs1797490601
NM_198428.3(BBS9):c.329-6C>T rs1445078208
NM_198428.3(BBS9):c.329-7T>C rs976567513
NM_198428.3(BBS9):c.329-8T>C
NM_198428.3(BBS9):c.342T>C (p.Asn114=)
NM_198428.3(BBS9):c.36T>C (p.Thr12=)
NM_198428.3(BBS9):c.381T>C (p.Tyr127=)
NM_198428.3(BBS9):c.396G>A (p.Gln132=)
NM_198428.3(BBS9):c.397A>C (p.Arg133=)
NM_198428.3(BBS9):c.402A>G (p.Thr134=) rs2128163033
NM_198428.3(BBS9):c.417C>T (p.Thr139=)
NM_198428.3(BBS9):c.438A>T (p.Val146=)
NM_198428.3(BBS9):c.442+16T>A
NM_198428.3(BBS9):c.442+19T>C
NM_198428.3(BBS9):c.442+7T>G rs1470563544
NM_198428.3(BBS9):c.443-17C>A
NM_198428.3(BBS9):c.443-20T>C
NM_198428.3(BBS9):c.443-6_443-4del
NM_198428.3(BBS9):c.443-8T>C
NM_198428.3(BBS9):c.456T>C (p.Ile152=)
NM_198428.3(BBS9):c.459C>T (p.Cys153=)
NM_198428.3(BBS9):c.477G>C (p.Gly159=)
NM_198428.3(BBS9):c.498G>A (p.Gln166=)
NM_198428.3(BBS9):c.525C>T (p.Leu175=)
NM_198428.3(BBS9):c.528T>C (p.Pro176=)
NM_198428.3(BBS9):c.531C>T (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.540G>A (p.Leu180=)
NM_198428.3(BBS9):c.540G>T (p.Leu180=)
NM_198428.3(BBS9):c.555C>G (p.Ala185=) rs35440033
NM_198428.3(BBS9):c.564C>T (p.Ser188=)
NM_198428.3(BBS9):c.570A>G (p.Thr190=)
NM_198428.3(BBS9):c.579C>T (p.Phe193=)
NM_198428.3(BBS9):c.594C>T (p.Ser198=)
NM_198428.3(BBS9):c.606G>A (p.Val202=)
NM_198428.3(BBS9):c.617+11A>T
NM_198428.3(BBS9):c.617+13G>A
NM_198428.3(BBS9):c.617+17A>C
NM_198428.3(BBS9):c.617+7T>C
NM_198428.3(BBS9):c.618-14T>C
NM_198428.3(BBS9):c.618-17A>T
NM_198428.3(BBS9):c.618-18T>A
NM_198428.3(BBS9):c.618-4A>G
NM_198428.3(BBS9):c.624G>A (p.Gln208=)
NM_198428.3(BBS9):c.660G>A (p.Gln220=)
NM_198428.3(BBS9):c.663G>A (p.Glu221=)
NM_198428.3(BBS9):c.675A>G (p.Gln225=)
NM_198428.3(BBS9):c.681T>C (p.Leu227=)
NM_198428.3(BBS9):c.687T>G (p.Ser229=)
NM_198428.3(BBS9):c.699A>C (p.Leu233=) rs1326295377
NM_198428.3(BBS9):c.702+10T>C
NM_198428.3(BBS9):c.702+13T>C
NM_198428.3(BBS9):c.702+16A>G
NM_198428.3(BBS9):c.702+18T>C
NM_198428.3(BBS9):c.702+20T>C rs756668480
NM_198428.3(BBS9):c.703-14G>A
NM_198428.3(BBS9):c.703-17T>C
NM_198428.3(BBS9):c.703-18T>C
NM_198428.3(BBS9):c.703-19A>G
NM_198428.3(BBS9):c.705G>A (p.Val235=)
NM_198428.3(BBS9):c.753C>T (p.Val251=) rs2128344695
NM_198428.3(BBS9):c.768G>A (p.Ser256=)
NM_198428.3(BBS9):c.786T>A (p.Val262=)
NM_198428.3(BBS9):c.825A>G (p.Gly275=)
NM_198428.3(BBS9):c.828A>G (p.Gln276=)
NM_198428.3(BBS9):c.834A>G (p.Arg278=)
NM_198428.3(BBS9):c.852T>C (p.Asp284=) rs2128345148
NM_198428.3(BBS9):c.858C>T (p.Ser286=)
NM_198428.3(BBS9):c.861A>C (p.Pro287=)
NM_198428.3(BBS9):c.861A>G (p.Pro287=)
NM_198428.3(BBS9):c.886+11A>G
NM_198428.3(BBS9):c.886+11dup rs2128345419
NM_198428.3(BBS9):c.886+12G>A
NM_198428.3(BBS9):c.886+12G>T
NM_198428.3(BBS9):c.886+17del rs774382014
NM_198428.3(BBS9):c.886+19T>C
NM_198428.3(BBS9):c.886+7A>G
NM_198428.3(BBS9):c.886+7_886+8insAAA rs768793235
NM_198428.3(BBS9):c.886+8G>A rs745781708
NM_198428.3(BBS9):c.886+9A>G
NM_198428.3(BBS9):c.887-15A>C
NM_198428.3(BBS9):c.887-16T>C
NM_198428.3(BBS9):c.887-17G>A
NM_198428.3(BBS9):c.936G>A (p.Leu312=)
NM_198428.3(BBS9):c.936G>T (p.Leu312=)
NM_198428.3(BBS9):c.957A>G (p.Thr319=)
NM_198428.3(BBS9):c.969C>T (p.Ala323=)
NM_198428.3(BBS9):c.990T>C (p.Pro330=)
NM_198428.3(BBS9):c.9A>G (p.Leu3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.