ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2514
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_015910.7(WDPCP):c.*604_*605del rs886056219 0.01222
NM_001278293.3(ARL6):c.*284C>A rs148380165 0.01054
NM_024296.5(CCDC28B):c.330C>T (p.Phe110=) rs41263993 0.01032
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_024685.3(BBS10):c.-71C>T rs569445445 0.00293
NM_005465.7(AKT3):c.*5398_*5402dup rs368945100 0.00273
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298 0.00086
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_033028.5(BBS4):c.514A>G (p.Ile172Val) rs145265395 0.00063
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612 0.00048
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546 0.00047
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582 0.00041
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu) rs149596527 0.00040
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile) rs201877419 0.00039
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_176824.3(BBS7):c.223A>G (p.Ile75Val) rs138872188 0.00039
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791 0.00034
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu) rs151203205 0.00031
NM_198428.3(BBS9):c.2294A>G (p.Glu765Gly) rs140882212 0.00031
NM_012210.4(TRIM32):c.*1411_*1414dup rs758130716 0.00030
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr) rs148808295 0.00030
NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val) rs141845729 0.00029
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val) rs150706579 0.00029
NM_015910.7(WDPCP):c.208+1G>A rs187135801 0.00028
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) rs144492051 0.00028
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868 0.00025
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln) rs150931960 0.00024
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu) rs146412602 0.00023
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391 0.00022
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623 0.00021
NM_024649.5(BBS1):c.432+5A>G rs373923317 0.00021
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr) rs374742528 0.00021
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) rs376411291 0.00021
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu) rs769669385 0.00021
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile) rs776917693 0.00020
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe) rs760909426 0.00020
NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe) rs200373010 0.00020
NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe) rs138699534 0.00019
NM_012210.4(TRIM32):c.578G>A (p.Arg193His) rs373853273 0.00019
NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu) rs768802269 0.00019
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr) rs145094101 0.00019
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys) rs147397090 0.00019
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser) rs199898889 0.00019
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly) rs148843256 0.00019
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser) rs142140276 0.00018
NM_152384.3(BBS5):c.197G>A (p.Arg66Lys) rs200250398 0.00018
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile) rs201412509 0.00016
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu) rs141255069 0.00016
NM_033028.5(BBS4):c.1036+6A>G rs374383864 0.00016
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met) rs372102223 0.00016
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420 0.00016
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu) rs141011629 0.00014
NM_024649.5(BBS1):c.200G>A (p.Arg67His) rs145718265 0.00014
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166 0.00014
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln) rs149042169 0.00014
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp) rs727503820 0.00013
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719 0.00013
NM_198428.3(BBS9):c.767C>T (p.Ser256Leu) rs149790873 0.00013
NM_012210.4(TRIM32):c.313C>T (p.Arg105Trp) rs201130164 0.00012
NM_012210.4(TRIM32):c.863C>A (p.Pro288His) rs367574371 0.00012
NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg) rs199711874 0.00012
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) rs138314289 0.00012
NM_033028.5(BBS4):c.24+6C>T rs1427489194 0.00012
NM_144596.4(TTC8):c.1063A>T (p.Met355Leu) rs140163629 0.00012
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968 0.00011
NM_015910.7(WDPCP):c.728C>T (p.Pro243Leu) rs368933340 0.00011
NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr) rs760237505 0.00011
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys) rs142297424 0.00011
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp) rs560253338 0.00011
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs) rs748758201 0.00011
NM_152618.3(BBS12):c.344T>C (p.Val115Ala) rs144179606 0.00011
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu) rs375084239 0.00011
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021 0.00011
NM_176824.3(BBS7):c.917T>C (p.Val306Ala) rs373378747 0.00011
NM_198428.3(BBS9):c.1112T>C (p.Val371Ala) rs138436479 0.00011
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile) rs139303948 0.00011
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met) rs137993290 0.00011
NM_198428.3(BBS9):c.862A>G (p.Ser288Gly) rs146770174 0.00011
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp) rs369647403 0.00011
NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser) rs369786224 0.00010
NM_024649.5(BBS1):c.756G>C (p.Glu252Asp) rs149920346 0.00010
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) rs540856754 0.00010
NM_144596.4(TTC8):c.484G>C (p.Gly162Arg) rs753150258 0.00010
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849 0.00010
NM_198428.3(BBS9):c.436G>A (p.Val146Ile) rs372412756 0.00010
NM_012210.4(TRIM32):c.494G>T (p.Arg165Leu) rs761591526 0.00009
NM_012210.4(TRIM32):c.979A>G (p.Met327Val) rs373287765 0.00009
NM_015910.7(WDPCP):c.1055T>A (p.Leu352Gln) rs373387599 0.00009
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp) rs767395683 0.00009
NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser) rs767717128 0.00009
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys) rs144696430 0.00009
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys) rs114401181 0.00009
NM_152384.3(BBS5):c.824C>T (p.Pro275Leu) rs376275481 0.00009
NM_152618.3(BBS12):c.1262G>A (p.Arg421His) rs778351153 0.00009
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys) rs376531209 0.00009
NM_152618.3(BBS12):c.542C>G (p.Ser181Cys) rs765425168 0.00009
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr) rs371153231 0.00009
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val) rs141224967 0.00009
NM_176824.3(BBS7):c.191C>T (p.Pro64Leu) rs747055521 0.00009
NM_176824.3(BBS7):c.839G>A (p.Arg280Gln) rs749970544 0.00009
NM_198428.3(BBS9):c.2509A>G (p.Met837Val) rs771310981 0.00009
NM_012210.4(TRIM32):c.1012G>A (p.Ala338Thr) rs141806013 0.00008
NM_015910.7(WDPCP):c.1888G>A (p.Asp630Asn) rs760742250 0.00008
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser) rs765923597 0.00008
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg) rs144833282 0.00008
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln) rs201335653 0.00008
NM_031885.5(BBS2):c.1381G>A (p.Val461Met) rs377000980 0.00008
NM_031885.5(BBS2):c.1786G>A (p.Val596Met) rs375828912 0.00008
NM_031885.5(BBS2):c.470C>T (p.Thr157Met) rs376483931 0.00008
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys) rs370111364 0.00008
NM_152384.3(BBS5):c.816+12A>G rs764194396 0.00008
NM_176824.3(BBS7):c.2108A>G (p.Tyr703Cys) rs375825705 0.00008
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile) rs143016114 0.00008
NM_015910.7(WDPCP):c.842G>A (p.Arg281His) rs3738877 0.00007
NM_024649.5(BBS1):c.1243G>A (p.Val415Met) rs150444177 0.00007
NM_144596.4(TTC8):c.308G>T (p.Gly103Val) rs140710339 0.00007
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser) rs369075832 0.00007
NM_198428.3(BBS9):c.2033G>A (p.Arg678His) rs200654248 0.00007
NM_198428.3(BBS9):c.921T>G (p.Asn307Lys) rs769663141 0.00007
NM_012210.4(TRIM32):c.1223G>A (p.Arg408His) rs183136193 0.00006
NM_012210.4(TRIM32):c.1688G>A (p.Arg563His) rs138056275 0.00006
NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) rs200196832 0.00006
NM_012210.4(TRIM32):c.524A>G (p.Lys175Arg) rs777911858 0.00006
NM_012210.4(TRIM32):c.973A>G (p.Met325Val) rs148027625 0.00006
NM_015910.6(WDPCP):c.-227C>G rs376940318 0.00006
NM_015910.7(WDPCP):c.1102C>T (p.Arg368Cys) rs769112221 0.00006
NM_015910.7(WDPCP):c.739G>A (p.Asp247Asn) rs376249713 0.00006
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127 0.00006
NM_024649.5(BBS1):c.1394G>A (p.Arg465His) rs146072788 0.00006
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser) rs369653969 0.00006
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304 0.00006
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141 0.00006
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln) rs142648652 0.00006
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp) rs199633103 0.00006
NM_024649.5(BBS1):c.569A>T (p.Lys190Met) rs778672601 0.00006
NM_024649.5(BBS1):c.802C>T (p.Arg268Cys) rs760381850 0.00006
NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu) rs56867176 0.00006
NM_031885.5(BBS2):c.1527+5G>C rs769041685 0.00006
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
NM_031885.5(BBS2):c.722A>C (p.Lys241Thr) rs199918247 0.00006
NM_033028.5(BBS4):c.1114C>T (p.Pro372Ser) rs375558008 0.00006
NM_033028.5(BBS4):c.1440dup (p.Leu481fs) rs780269741 0.00006
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr) rs769886837 0.00006
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp) rs755412340 0.00006
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly) rs759112760 0.00006
NM_144596.4(TTC8):c.874G>A (p.Val292Ile) rs375086490 0.00006
NM_144596.4(TTC8):c.913A>G (p.Met305Val) rs143237548 0.00006
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn) rs567175904 0.00006
NM_152384.3(BBS5):c.542T>C (p.Phe181Ser) rs758508869 0.00006
NM_152618.3(BBS12):c.1102C>T (p.Arg368Cys) rs372534521 0.00006
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286 0.00006
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu) rs374865012 0.00006
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu) rs767546051 0.00006
NM_176824.3(BBS7):c.1142T>C (p.Ile381Thr) rs374288473 0.00006
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362 0.00006
NM_176824.3(BBS7):c.683G>A (p.Arg228His) rs369866009 0.00006
NM_198428.3(BBS9):c.138G>A (p.Met46Ile) rs145241295 0.00006
NM_198428.3(BBS9):c.833G>A (p.Arg278Gln) rs754343745 0.00006
NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr) rs200326473 0.00005
NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile) rs141953092 0.00005
NM_015910.7(WDPCP):c.1103G>A (p.Arg368His) rs749677469 0.00005
NM_015910.7(WDPCP):c.2161G>A (p.Gly721Arg) rs563554007 0.00005
NM_015910.7(WDPCP):c.221G>A (p.Gly74Asp) rs368745542 0.00005
NM_024649.5(BBS1):c.551C>T (p.Ala184Val) rs372673129 0.00005
NM_024649.5(BBS1):c.751C>G (p.Leu251Val) rs951217740 0.00005
NM_024649.5(BBS1):c.901G>A (p.Val301Ile) rs1037134217 0.00005
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989 0.00005
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861 0.00005
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu) rs967941621 0.00005
NM_031885.5(BBS2):c.970A>T (p.Met324Leu) rs778551017 0.00005
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser) rs771231605 0.00005
NM_152384.3(BBS5):c.829G>A (p.Glu277Lys) rs754858756 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797 0.00005
NM_152618.3(BBS12):c.140G>A (p.Ser47Asn) rs149473445 0.00005
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr) rs762558855 0.00005
NM_152618.3(BBS12):c.1858C>G (p.Gln620Glu) rs776100718 0.00005
NM_176824.3(BBS7):c.1036C>T (p.Arg346Trp) rs533535422 0.00005
NM_198428.3(BBS9):c.1949A>G (p.Asp650Gly) rs201876934 0.00005
NM_198428.3(BBS9):c.2449G>A (p.Asp817Asn) rs781476538 0.00005
NM_198428.3(BBS9):c.663G>T (p.Glu221Asp) rs767766656 0.00005
NM_012210.4(TRIM32):c.1198C>T (p.Arg400Cys) rs140059042 0.00004
NM_012210.4(TRIM32):c.127A>G (p.Ile43Val) rs764366522 0.00004
NM_012210.4(TRIM32):c.1354C>T (p.Leu452Phe) rs747067557 0.00004
NM_012210.4(TRIM32):c.1361T>C (p.Val454Ala) rs781475334 0.00004
NM_012210.4(TRIM32):c.1384G>A (p.Val462Met) rs772922696 0.00004
NM_012210.4(TRIM32):c.1544G>A (p.Arg515Gln) rs781359060 0.00004
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr) rs539376933 0.00004
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln) rs758882829 0.00004
NM_012210.4(TRIM32):c.496C>T (p.Arg166Trp) rs752016708 0.00004
NM_012210.4(TRIM32):c.986C>T (p.Pro329Leu) rs377510422 0.00004
NM_015910.7(WDPCP):c.124C>T (p.His42Tyr) rs747767839 0.00004
NM_015910.7(WDPCP):c.1417G>A (p.Val473Met) rs374807784 0.00004
NM_015910.7(WDPCP):c.159G>A (p.Ala53=) rs192196713 0.00004
NM_015910.7(WDPCP):c.1624+6A>G rs370961530 0.00004
NM_015910.7(WDPCP):c.209C>T (p.Ala70Val) rs141761524 0.00004
NM_024649.5(BBS1):c.1246G>T (p.Gly416Cys) rs202201758 0.00004
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu) rs746206916 0.00004
NM_024649.5(BBS1):c.163G>A (p.Val55Met) rs181765153 0.00004
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560 0.00004
NM_024649.5(BBS1):c.175C>G (p.Leu59Val) rs113822005 0.00004
NM_024649.5(BBS1):c.274T>C (p.Phe92Leu) rs778339359 0.00004
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) rs759253107 0.00004
NM_024649.5(BBS1):c.485C>T (p.Thr162Met) rs148576114 0.00004
NM_024649.5(BBS1):c.745G>A (p.Val249Ile) rs139145556 0.00004
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr) rs368510687 0.00004
NM_024649.5(BBS1):c.908T>C (p.Val303Ala) rs750668484 0.00004
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg) rs1021050605 0.00004
NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp) rs144402299 0.00004
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His) rs141647931 0.00004
NM_024685.4(BBS10):c.1882A>G (p.Met628Val) rs760505134 0.00004
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala) rs766733372 0.00004
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val) rs376380339 0.00004
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys) rs746505864 0.00004
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp) rs372135700 0.00004
NM_031885.5(BBS2):c.320A>G (p.Asn107Ser) rs1292834581 0.00004
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser) rs144680278 0.00004
NM_031885.5(BBS2):c.61A>G (p.Ile21Val) rs1319616745 0.00004
NM_031885.5(BBS2):c.962C>T (p.Thr321Met) rs758548498 0.00004
NM_033028.5(BBS4):c.1009A>T (p.Met337Leu) rs1021016026 0.00004
NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg) rs149577332 0.00004
NM_033028.5(BBS4):c.1157G>A (p.Gly386Asp) rs143607861 0.00004
NM_033028.5(BBS4):c.1171G>A (p.Ala391Thr) rs370963556 0.00004
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr) rs760437306 0.00004
NM_033028.5(BBS4):c.405+6T>C rs926942882 0.00004
NM_033028.5(BBS4):c.986C>T (p.Ala329Val) rs201987100 0.00004
NM_144596.4(TTC8):c.1052G>A (p.Arg351Gln) rs779617849 0.00004
NM_144596.4(TTC8):c.114+6G>C rs370326452 0.00004
NM_144596.4(TTC8):c.800T>A (p.Val267Asp) rs770333148 0.00004
NM_152384.3(BBS5):c.185T>C (p.Leu62Ser) rs370501865 0.00004
NM_152384.3(BBS5):c.475C>T (p.His159Tyr) rs757525125 0.00004
NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys) rs376537695 0.00004
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg) rs201158536 0.00004
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg) rs1487383886 0.00004
NM_152618.3(BBS12):c.1411G>A (p.Val471Met) rs140675688 0.00004
NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser) rs371908294 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_152618.3(BBS12):c.2024G>A (p.Arg675Gln) rs144843913 0.00004
NM_152618.3(BBS12):c.2094G>C (p.Gln698His) rs373082306 0.00004
NM_152618.3(BBS12):c.68C>T (p.Ala23Val) rs200240034 0.00004
NM_152618.3(BBS12):c.809A>C (p.Glu270Ala) rs915644000 0.00004
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys) rs779042065 0.00004
NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile) rs534408910 0.00004
NM_176824.3(BBS7):c.863G>A (p.Ser288Asn) rs750276510 0.00004
NM_176824.3(BBS7):c.974A>G (p.Glu325Gly) rs1255872676 0.00004
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp) rs1312526837 0.00004
NM_198428.3(BBS9):c.1237G>A (p.Val413Ile) rs778518775 0.00004
NM_198428.3(BBS9):c.1293G>C (p.Glu431Asp) rs767170924 0.00004
NM_198428.3(BBS9):c.1322C>T (p.Thr441Met) rs140675013 0.00004
NM_198428.3(BBS9):c.1468T>C (p.Tyr490His) rs760084192 0.00004
NM_198428.3(BBS9):c.1889A>G (p.Lys630Arg) rs561404900 0.00004
NM_198428.3(BBS9):c.2215G>A (p.Ala739Thr) rs369881355 0.00004
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe) rs779871496 0.00004
NM_198428.3(BBS9):c.2550C>A (p.Asp850Glu) rs768072201 0.00004
NM_198428.3(BBS9):c.2605C>T (p.His869Tyr) rs938197989 0.00004
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter) rs150826095 0.00004
NM_198428.3(BBS9):c.2657C>T (p.Ser886Leu) rs779169794 0.00004
NM_198428.3(BBS9):c.559A>G (p.Ser187Gly) rs771447042 0.00004
NM_198428.3(BBS9):c.58T>G (p.Phe20Val) rs779638896 0.00004
NM_198428.3(BBS9):c.702+6G>A rs777329822 0.00004
NM_198428.3(BBS9):c.809G>C (p.Cys270Ser) rs763742314 0.00004
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg) rs377207430 0.00004
NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys) rs754554333 0.00003
NM_012210.4(TRIM32):c.1226G>A (p.Arg409His) rs145828717 0.00003
NM_012210.4(TRIM32):c.133C>T (p.Arg45Cys) rs753738560 0.00003
NM_012210.4(TRIM32):c.1400G>C (p.Ser467Thr) rs151116227 0.00003
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu) rs752860146 0.00003
NM_012210.4(TRIM32):c.1930A>G (p.Ser644Gly) rs1462453134 0.00003
NM_012210.4(TRIM32):c.206G>A (p.Arg69His) rs11556350 0.00003
NM_012210.4(TRIM32):c.24C>A (p.His8Gln) rs774511117 0.00003
NM_012210.4(TRIM32):c.337C>T (p.Arg113Trp) rs762785784 0.00003
NM_012210.4(TRIM32):c.434G>A (p.Arg145Gln) rs753519978 0.00003
NM_012210.4(TRIM32):c.488T>C (p.Leu163Pro) rs775940650 0.00003
NM_015910.7(WDPCP):c.158C>T (p.Ala53Val) rs149347732 0.00003
NM_015910.7(WDPCP):c.1799G>A (p.Arg600His) rs375036014 0.00003
NM_015910.7(WDPCP):c.25G>C (p.Ala9Pro) rs780151486 0.00003
NM_015910.7(WDPCP):c.272C>T (p.Thr91Met) rs753130718 0.00003
NM_015910.7(WDPCP):c.286C>T (p.Arg96Cys) rs375338402 0.00003
NM_015910.7(WDPCP):c.410T>C (p.Val137Ala) rs780789710 0.00003
NM_015910.7(WDPCP):c.691A>G (p.Ile231Val) rs769180655 0.00003
NM_015910.7(WDPCP):c.806A>G (p.Tyr269Cys) rs749575727 0.00003
NM_015910.7(WDPCP):c.841C>T (p.Arg281Cys) rs747564290 0.00003
NM_017777.4(MKS1):c.813C>T (p.His271=) rs201961765 0.00003
NM_024649.5(BBS1):c.1067G>A (p.Arg356His) rs771291825 0.00003
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749 0.00003
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr) rs765960634 0.00003
NM_024649.5(BBS1):c.726G>A (p.Met242Ile) rs773588060 0.00003
NM_024685.4(BBS10):c.*177T>G rs189856910 0.00003
NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu) rs767572725 0.00003
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp) rs774809155 0.00003
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp) rs375746803 0.00003
NM_024685.4(BBS10):c.1970C>T (p.Thr657Ile) rs773540960 0.00003
NM_024685.4(BBS10):c.198-3C>T rs779659204 0.00003
NM_024685.4(BBS10):c.1A>G (p.Met1Val) rs752145803 0.00003
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr) rs1160564103 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_031885.5(BBS2):c.-146G>A rs886052153 0.00003
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp) rs143607562 0.00003
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser) rs761864599 0.00003
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp) rs1175381219 0.00003
NM_031885.5(BBS2):c.1928G>A (p.Arg643His) rs532361142 0.00003
NM_031885.5(BBS2):c.1982G>A (p.Arg661His) rs747686535 0.00003
NM_031885.5(BBS2):c.380C>G (p.Thr127Arg) rs1191790453 0.00003
NM_031885.5(BBS2):c.635T>C (p.Met212Thr) rs764600063 0.00003
NM_031885.5(BBS2):c.851A>G (p.Asn284Ser) rs377749641 0.00003
NM_033028.5(BBS4):c.*855_*856del rs748809330 0.00003
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr) rs969384648 0.00003
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser) rs751716258 0.00003
NM_033028.5(BBS4):c.1327C>G (p.Pro443Ala) rs760115702 0.00003
NM_033028.5(BBS4):c.1462A>G (p.Thr488Ala) rs746070171 0.00003
NM_033028.5(BBS4):c.1550G>A (p.Arg517Lys) rs201651412 0.00003
NM_033028.5(BBS4):c.233G>A (p.Arg78His) rs200396355 0.00003
NM_033028.5(BBS4):c.975T>A (p.His325Gln) rs769873362 0.00003
NM_144596.4(TTC8):c.1040G>A (p.Arg347Gln) rs1246614842 0.00003
NM_144596.4(TTC8):c.1542G>A (p.Met514Ile) rs571571526 0.00003
NM_144596.4(TTC8):c.401C>T (p.Thr134Ile) rs982852104 0.00003
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly) rs749721461 0.00003
NM_152384.3(BBS5):c.110T>C (p.Ile37Thr) rs370849006 0.00003
NM_152384.3(BBS5):c.568C>T (p.His190Tyr) rs1264901746 0.00003
NM_152384.3(BBS5):c.668A>T (p.Glu223Val) rs775524491 0.00003
NM_152384.3(BBS5):c.808G>A (p.Glu270Lys) rs199846010 0.00003
NM_152618.3(BBS12):c.1303G>A (p.Gly435Ser) rs762853916 0.00003
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys) rs543608786 0.00003
NM_152618.3(BBS12):c.1913A>G (p.Asn638Ser) rs931117746 0.00003
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser) rs777615072 0.00003
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln) rs370716101 0.00003
NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp) rs768987725 0.00003
NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser) rs771957843 0.00003
NM_176824.3(BBS7):c.1746A>G (p.Lys582=) rs1185659710 0.00003
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly) rs201096775 0.00003
NM_176824.3(BBS7):c.908A>T (p.Asp303Val) rs1261951183 0.00003
NM_198428.3(BBS9):c.1264G>T (p.Asp422Tyr) rs140198337 0.00003
NM_198428.3(BBS9):c.1480A>T (p.Ser494Cys) rs765846163 0.00003
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala) rs369146555 0.00003
NM_198428.3(BBS9):c.1801A>G (p.Ile601Val) rs377588119 0.00003
NM_198428.3(BBS9):c.2020C>T (p.Arg674Trp) rs368526968 0.00003
NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile) rs749948775 0.00003
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638 0.00003
NM_012210.4(TRIM32):c.1046C>G (p.Ala349Gly) rs774316527 0.00002
NM_012210.4(TRIM32):c.1169G>A (p.Arg390His) rs146094774 0.00002
NM_012210.4(TRIM32):c.1579G>A (p.Val527Ile) rs368901621 0.00002
NM_012210.4(TRIM32):c.1838G>A (p.Arg613Gln) rs199704873 0.00002
NM_012210.4(TRIM32):c.212C>T (p.Thr71Ile) rs779530342 0.00002
NM_012210.4(TRIM32):c.314G>A (p.Arg105Gln) rs949658602 0.00002
NM_012210.4(TRIM32):c.326G>A (p.Arg109Gln) rs748324526 0.00002
NM_012210.4(TRIM32):c.374A>G (p.Glu125Gly) rs758786326 0.00002
NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln) rs552938001 0.00002
NM_012210.4(TRIM32):c.497G>A (p.Arg166Gln) rs759945386 0.00002
NM_012210.4(TRIM32):c.712C>T (p.Arg238Cys) rs769410403 0.00002
NM_012210.4(TRIM32):c.737T>C (p.Ile246Thr) rs533236140 0.00002
NM_012210.4(TRIM32):c.812G>A (p.Arg271Gln) rs773872830 0.00002
NM_012210.4(TRIM32):c.86A>G (p.Glu29Gly) rs757842932 0.00002
NM_012210.4(TRIM32):c.896G>A (p.Arg299Gln) rs766439806 0.00002
NM_012210.4(TRIM32):c.907G>A (p.Val303Met) rs144532174 0.00002
NM_015910.7(WDPCP):c.1379A>T (p.Asp460Val) rs367834809 0.00002
NM_015910.7(WDPCP):c.1436-4A>G rs773663574 0.00002
NM_015910.7(WDPCP):c.151C>T (p.His51Tyr) rs779689937 0.00002
NM_015910.7(WDPCP):c.1784T>A (p.Val595Asp) rs761696659 0.00002
NM_015910.7(WDPCP):c.1916-4A>G rs764595056 0.00002
NM_015910.7(WDPCP):c.2003C>T (p.Pro668Leu) rs757409957 0.00002
NM_015910.7(WDPCP):c.208+6G>T rs775227440 0.00002
NM_015910.7(WDPCP):c.2210C>A (p.Ser737Tyr) rs746369214 0.00002
NM_015910.7(WDPCP):c.333G>A (p.Met111Ile) rs778069760 0.00002
NM_015910.7(WDPCP):c.334C>G (p.Gln112Glu) rs758543575 0.00002
NM_015910.7(WDPCP):c.685C>G (p.Leu229Val) rs762453550 0.00002
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447 0.00002
NM_024649.5(BBS1):c.1175C>A (p.Thr392Asn) rs775513593 0.00002
NM_024649.5(BBS1):c.1295G>A (p.Arg432Gln) rs138491266 0.00002
NM_024649.5(BBS1):c.1346A>T (p.His449Leu) rs777746992 0.00002
NM_024649.5(BBS1):c.1474G>T (p.Val492Phe) rs747604822 0.00002
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) rs1316472200 0.00002
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys) rs184614863 0.00002
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr) rs768098877 0.00002
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg) rs1355873337 0.00002
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser) rs190513580 0.00002
NM_024649.5(BBS1):c.43G>A (p.Glu15Lys) rs761601575 0.00002
NM_024649.5(BBS1):c.518+5G>A rs1428618323 0.00002
NM_024649.5(BBS1):c.725T>C (p.Met242Thr) rs771506842 0.00002
NM_024649.5(BBS1):c.808G>A (p.Gly270Arg) rs754465006 0.00002
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545 0.00002
NM_024685.4(BBS10):c.1034T>C (p.Ile345Thr) rs761897354 0.00002
NM_024685.4(BBS10):c.1232A>G (p.Glu411Gly) rs760904517 0.00002
NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser) rs770239827 0.00002
NM_024685.4(BBS10):c.1607A>G (p.Tyr536Cys) rs765785183 0.00002
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr) rs373626588 0.00002
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu) rs762432475 0.00002
NM_024685.4(BBS10):c.1936A>G (p.Lys646Glu) rs757995171 0.00002
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro) rs759387000 0.00002
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser) rs768699088 0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe) rs1428784861 0.00002
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val) rs145757541 0.00002
NM_031885.5(BBS2):c.1616G>A (p.Arg539Gln) rs753398421 0.00002
NM_031885.5(BBS2):c.1713G>A (p.Met571Ile) rs755329143 0.00002
NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg) rs149473225 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr) rs757737589 0.00002
NM_031885.5(BBS2):c.2104A>G (p.Ile702Val) rs750150867 0.00002
NM_031885.5(BBS2):c.2125A>T (p.Thr709Ser) rs202054876 0.00002
NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln) rs761068592 0.00002
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585 0.00002
NM_031885.5(BBS2):c.691A>G (p.Lys231Glu) rs754487754 0.00002
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn) rs144573829 0.00002
NM_033028.5(BBS4):c.1126C>G (p.Leu376Val) rs760324204 0.00002
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met) rs754792792 0.00002
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg) rs758120829 0.00002
NM_033028.5(BBS4):c.332+5G>A rs758789705 0.00002
NM_033028.5(BBS4):c.333-3C>T rs369781535 0.00002
NM_033028.5(BBS4):c.799C>G (p.Pro267Ala) rs775034843 0.00002
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu) rs200086953 0.00002
NM_144596.4(TTC8):c.1347+6T>G rs368072201 0.00002
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val) rs139195149 0.00002
NM_144596.4(TTC8):c.23T>A (p.Leu8Gln) rs1277993132 0.00002
NM_144596.4(TTC8):c.322G>A (p.Ala108Thr) rs1000702394 0.00002
NM_144596.4(TTC8):c.325G>A (p.Val109Ile) rs150067562 0.00002
NM_144596.4(TTC8):c.43T>C (p.Phe15Leu) rs1379428942 0.00002
NM_144596.4(TTC8):c.445C>T (p.Arg149Cys) rs781214218 0.00002
NM_144596.4(TTC8):c.446G>A (p.Arg149His) rs768271175 0.00002
NM_144596.4(TTC8):c.466G>A (p.Gly156Arg) rs750521601 0.00002
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) rs199571677 0.00002
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys) rs1018209116 0.00002
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe) rs774379732 0.00002
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr) rs568563702 0.00002
NM_152384.3(BBS5):c.226A>G (p.Ile76Val) rs763696357 0.00002
NM_152384.3(BBS5):c.229T>A (p.Leu77Met) rs753387321 0.00002
NM_152384.3(BBS5):c.935G>A (p.Arg312His) rs751420732 0.00002
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln) rs776216693 0.00002
NM_152618.3(BBS12):c.166C>T (p.Leu56Phe) rs751515113 0.00002
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490 0.00002
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842 0.00002
NM_152618.3(BBS12):c.775A>G (p.Thr259Ala) rs746565072 0.00002
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr) rs758567781 0.00002
NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys) rs747889031 0.00002
NM_176824.3(BBS7):c.2146T>C (p.Ter716Arg) rs200470633 0.00002
NM_176824.3(BBS7):c.37G>A (p.Val13Met) rs753027552 0.00002
NM_176824.3(BBS7):c.442A>C (p.Asn148His) rs982037757 0.00002
NM_176824.3(BBS7):c.478C>T (p.Arg160Cys) rs756538454 0.00002
NM_176824.3(BBS7):c.508A>G (p.Arg170Gly) rs199891330 0.00002
NM_176824.3(BBS7):c.532T>A (p.Ser178Thr) rs750684046 0.00002
NM_198428.3(BBS9):c.1431G>A (p.Met477Ile) rs1443035026 0.00002
NM_198428.3(BBS9):c.145C>G (p.Leu49Val) rs777409972 0.00002
NM_198428.3(BBS9):c.1741C>T (p.His581Tyr) rs537110423 0.00002
NM_198428.3(BBS9):c.1798C>T (p.Arg600Cys) rs775703296 0.00002
NM_198428.3(BBS9):c.2036G>A (p.Arg679Gln) rs768958916 0.00002
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu) rs760800602 0.00002
NM_198428.3(BBS9):c.205C>A (p.Leu69Ile) rs375757123 0.00002
NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal) rs752782918 0.00002
NM_198428.3(BBS9):c.2468G>A (p.Gly823Asp) rs1176589347 0.00002
NM_198428.3(BBS9):c.2653G>T (p.Val885Phe) rs950624105 0.00002
NM_198428.3(BBS9):c.335T>C (p.Leu112Ser) rs904098347 0.00002
NM_198428.3(BBS9):c.433G>A (p.Gly145Ser) rs144340890 0.00002
NM_198428.3(BBS9):c.565C>T (p.Arg189Cys) rs776941068 0.00002
NM_198428.3(BBS9):c.566G>A (p.Arg189His) rs547643751 0.00002
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly) rs1264926096 0.00002
NM_000867.5(HTR2B):c.736A>T (p.Lys246Ter) rs564438017 0.00001
NM_001177701.3(IFT27):c.319G>A (p.Ala107Thr) rs576803886 0.00001
NM_012210.4(TRIM32):c.1004G>A (p.Ser335Asn) rs778321975 0.00001
NM_012210.4(TRIM32):c.1039G>C (p.Glu347Gln) rs1564217118 0.00001
NM_012210.4(TRIM32):c.1042G>T (p.Ala348Ser) rs771427815 0.00001
NM_012210.4(TRIM32):c.1061A>G (p.Gln354Arg) rs1266244841 0.00001
NM_012210.4(TRIM32):c.1081A>T (p.Met361Leu) rs1262205918 0.00001
NM_012210.4(TRIM32):c.1115A>G (p.Asn372Ser) rs781488306 0.00001
NM_012210.4(TRIM32):c.1124T>G (p.Val375Gly) rs886044107 0.00001
NM_012210.4(TRIM32):c.1142G>A (p.Ser381Asn) rs1432191841 0.00001
NM_012210.4(TRIM32):c.1153G>A (p.Val385Ile) rs1564217317 0.00001
NM_012210.4(TRIM32):c.1162G>A (p.Ala388Thr) rs886042328 0.00001
NM_012210.4(TRIM32):c.1196C>T (p.Thr399Ile) rs1182257457 0.00001
NM_012210.4(TRIM32):c.119G>C (p.Gly40Ala) rs1159231558 0.00001
NM_012210.4(TRIM32):c.1225C>T (p.Arg409Cys) rs765158423 0.00001
NM_012210.4(TRIM32):c.1306A>G (p.Met436Val) rs746383181 0.00001
NM_012210.4(TRIM32):c.1321C>G (p.Leu441Val) rs987882732 0.00001
NM_012210.4(TRIM32):c.134G>A (p.Arg45His) rs143760041 0.00001
NM_012210.4(TRIM32):c.1369T>G (p.Leu457Val) rs1275345258 0.00001
NM_012210.4(TRIM32):c.136C>G (p.Gln46Glu) rs1193048642 0.00001
NM_012210.4(TRIM32):c.1488C>G (p.Phe496Leu) rs371233848 0.00001
NM_012210.4(TRIM32):c.1540G>A (p.Val514Met) rs755369647 0.00001
NM_012210.4(TRIM32):c.1618C>T (p.Arg540Trp) rs147803099 0.00001
NM_012210.4(TRIM32):c.1619G>A (p.Arg540Gln) rs761503419 0.00001
NM_012210.4(TRIM32):c.1642G>A (p.Gly548Ser) rs946701093 0.00001
NM_012210.4(TRIM32):c.1709C>T (p.Ser570Leu) rs746590049 0.00001
NM_012210.4(TRIM32):c.1727G>A (p.Arg576His) rs769518349 0.00001
NM_012210.4(TRIM32):c.176T>C (p.Val59Ala) rs1261435168 0.00001
NM_012210.4(TRIM32):c.1780A>G (p.Ser594Gly) rs757524831 0.00001
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter) rs199664043 0.00001
NM_012210.4(TRIM32):c.1853G>C (p.Cys618Ser) rs777285202 0.00001
NM_012210.4(TRIM32):c.1855C>T (p.Pro619Ser) rs368240408 0.00001
NM_012210.4(TRIM32):c.1860G>A (p.Val620=) rs772336687 0.00001
NM_012210.4(TRIM32):c.1876C>T (p.Pro626Ser) rs769128859 0.00001
NM_012210.4(TRIM32):c.1882G>A (p.Gly628Arg) rs1360716233 0.00001
NM_012210.4(TRIM32):c.1931G>T (p.Ser644Ile) rs765555919 0.00001
NM_012210.4(TRIM32):c.1954A>G (p.Thr652Ala) rs763172140 0.00001
NM_012210.4(TRIM32):c.1957C>T (p.Pro653Ser) rs899549661 0.00001
NM_012210.4(TRIM32):c.1959A>G (p.Pro653=) rs1446030395 0.00001
NM_012210.4(TRIM32):c.236A>G (p.Asn79Ser) rs775738712 0.00001
NM_012210.4(TRIM32):c.274A>G (p.Ser92Gly) rs1860959982 0.00001
NM_012210.4(TRIM32):c.277G>A (p.Glu93Lys) rs754449534 0.00001
NM_012210.4(TRIM32):c.284T>C (p.Val95Ala) rs780885702 0.00001
NM_012210.4(TRIM32):c.325C>T (p.Arg109Trp) rs776796546 0.00001
NM_012210.4(TRIM32):c.32T>C (p.Leu11Pro) rs767818381 0.00001
NM_012210.4(TRIM32):c.371G>A (p.Arg124Gln) rs750797541 0.00001
NM_012210.4(TRIM32):c.377C>T (p.Ala126Val) rs755478136 0.00001
NM_012210.4(TRIM32):c.430G>A (p.Glu144Lys) rs760202414 0.00001
NM_012210.4(TRIM32):c.43C>T (p.Arg15Trp) rs1202455552 0.00001
NM_012210.4(TRIM32):c.44G>A (p.Arg15Gln) rs1341334730 0.00001
NM_012210.4(TRIM32):c.464G>A (p.Arg155His) rs777914761 0.00001
NM_012210.4(TRIM32):c.493C>T (p.Arg165Trp) rs1378775801 0.00001
NM_012210.4(TRIM32):c.55G>C (p.Glu19Gln) rs757287996 0.00001
NM_012210.4(TRIM32):c.577C>T (p.Arg193Cys) rs568433214 0.00001
NM_012210.4(TRIM32):c.625T>C (p.Ser209Pro) rs370534929 0.00001
NM_012210.4(TRIM32):c.650A>G (p.Asn217Ser) rs374248541 0.00001
NM_012210.4(TRIM32):c.688A>G (p.Ile230Val) rs139113969 0.00001
NM_012210.4(TRIM32):c.781G>A (p.Glu261Lys) rs781333763 0.00001
NM_012210.4(TRIM32):c.809C>G (p.Pro270Arg) rs1861004120 0.00001
NM_012210.4(TRIM32):c.889A>G (p.Lys297Glu) rs759742371 0.00001
NM_012210.4(TRIM32):c.899C>T (p.Thr300Ile) rs1010496243 0.00001
NM_012210.4(TRIM32):c.938C>T (p.Ala313Val) rs794727284 0.00001
NM_012210.4(TRIM32):c.97C>T (p.Arg33Cys) rs778141507 0.00001
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met) rs199891059 0.00001
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser) rs560329867 0.00001
NM_015910.6(WDPCP):c.-301G>A rs886056227 0.00001
NM_015910.7(WDPCP):c.1018G>T (p.Ala340Ser) rs779714128 0.00001
NM_015910.7(WDPCP):c.1049A>G (p.Asp350Gly) rs1469275937 0.00001
NM_015910.7(WDPCP):c.1101C>A (p.His367Gln) rs904401906 0.00001
NM_015910.7(WDPCP):c.1186A>C (p.Ser396Arg) rs936904170 0.00001
NM_015910.7(WDPCP):c.1201T>G (p.Leu401Val) rs1040913823 0.00001
NM_015910.7(WDPCP):c.1206A>T (p.Gln402His) rs1441739882 0.00001
NM_015910.7(WDPCP):c.1258C>T (p.Arg420Cys) rs769165669 0.00001
NM_015910.7(WDPCP):c.1259G>A (p.Arg420His) rs749726622 0.00001
NM_015910.7(WDPCP):c.1267A>G (p.Arg423Gly) rs745555236 0.00001
NM_015910.7(WDPCP):c.1291T>G (p.Leu431Val) rs746549040 0.00001
NM_015910.7(WDPCP):c.1331T>G (p.Ile444Arg) rs373940251 0.00001
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00001
NM_015910.7(WDPCP):c.1451G>A (p.Gly484Glu) rs750245323 0.00001
NM_015910.7(WDPCP):c.1466T>C (p.Ile489Thr) rs370842356 0.00001
NM_015910.7(WDPCP):c.1505A>G (p.Tyr502Cys) rs559295906 0.00001
NM_015910.7(WDPCP):c.1511C>T (p.Ala504Val) rs1462636982 0.00001
NM_015910.7(WDPCP):c.1546C>G (p.Leu516Val) rs766821661 0.00001
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr) rs534102944 0.00001
NM_015910.7(WDPCP):c.1606C>G (p.Leu536Val) rs955196377 0.00001
NM_015910.7(WDPCP):c.166G>C (p.Asp56His) rs375016562 0.00001
NM_015910.7(WDPCP):c.1670C>T (p.Pro557Leu) rs760413825 0.00001
NM_015910.7(WDPCP):c.1687A>G (p.Ile563Val) rs1168632851 0.00001
NM_015910.7(WDPCP):c.1705C>G (p.Gln569Glu) rs1026359002 0.00001
NM_015910.7(WDPCP):c.170T>C (p.Ile57Thr) rs757037739 0.00001
NM_015910.7(WDPCP):c.1730T>G (p.Phe577Cys) rs1439554090 0.00001
NM_015910.7(WDPCP):c.1798C>T (p.Arg600Cys) rs747517141 0.00001
NM_015910.7(WDPCP):c.193A>G (p.Lys65Glu) rs750924240 0.00001
NM_015910.7(WDPCP):c.1951A>C (p.Asn651His) rs373413042 0.00001
NM_015910.7(WDPCP):c.1982C>T (p.Pro661Leu) rs572858289 0.00001
NM_015910.7(WDPCP):c.2010C>A (p.Asn670Lys) rs1242470451 0.00001
NM_015910.7(WDPCP):c.2047C>A (p.Gln683Lys) rs765674630 0.00001
NM_015910.7(WDPCP):c.2147G>A (p.Cys716Tyr) rs772286167 0.00001
NM_015910.7(WDPCP):c.2149A>C (p.Asn717His) rs748189167 0.00001
NM_015910.7(WDPCP):c.2159-14A>G rs748390681 0.00001
NM_015910.7(WDPCP):c.2173G>A (p.Glu725Lys) rs1370629959 0.00001
NM_015910.7(WDPCP):c.2190+1G>A rs1671980611 0.00001
NM_015910.7(WDPCP):c.21G>C (p.Trp7Cys) rs1200911623 0.00001
NM_015910.7(WDPCP):c.243G>T (p.Lys81Asn) rs1206045016 0.00001
NM_015910.7(WDPCP):c.24C>G (p.Asp8Glu) rs548483405 0.00001
NM_015910.7(WDPCP):c.253T>G (p.Ser85Ala) rs866240226 0.00001
NM_015910.7(WDPCP):c.270G>T (p.Trp90Cys) rs758930140 0.00001
NM_015910.7(WDPCP):c.302G>A (p.Arg101Gln) rs746158542 0.00001
NM_015910.7(WDPCP):c.304G>C (p.Asp102His) rs757449444 0.00001
NM_015910.7(WDPCP):c.308C>T (p.Ser103Leu) rs376758858 0.00001
NM_015910.7(WDPCP):c.316G>C (p.Glu106Gln) rs1444169850 0.00001
NM_015910.7(WDPCP):c.332T>C (p.Met111Thr) rs1392647874 0.00001
NM_015910.7(WDPCP):c.385-8G>A rs1277892197 0.00001
NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe) rs756891717 0.00001
NM_015910.7(WDPCP):c.424T>C (p.Ser142Pro) rs529607482 0.00001
NM_015910.7(WDPCP):c.451A>C (p.Ile151Leu) rs776529473 0.00001
NM_015910.7(WDPCP):c.46A>C (p.Ser16Arg) rs952535961 0.00001
NM_015910.7(WDPCP):c.56C>T (p.Ser19Phe) rs781606829 0.00001
NM_015910.7(WDPCP):c.581A>G (p.Glu194Gly) rs750252971 0.00001
NM_015910.7(WDPCP):c.634A>C (p.Ile212Leu) rs755148252 0.00001
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser) rs761312526 0.00001
NM_015910.7(WDPCP):c.677A>T (p.Glu226Val) rs774816454 0.00001
NM_015910.7(WDPCP):c.757G>A (p.Ala253Thr) rs531251663 0.00001
NM_015910.7(WDPCP):c.805T>C (p.Tyr269His) rs1374748295 0.00001
NM_015910.7(WDPCP):c.856C>T (p.Pro286Ser) rs367653779 0.00001
NM_015910.7(WDPCP):c.940G>A (p.Ala314Thr) rs1694413400 0.00001
NM_015910.7(WDPCP):c.952A>G (p.Ile318Val) rs747114578 0.00001
NM_015910.7(WDPCP):c.967C>T (p.Arg323Trp) rs545767612 0.00001
NM_015910.7(WDPCP):c.968G>A (p.Arg323Gln) rs991936622 0.00001
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys) rs753620277 0.00001
NM_024649.5(BBS1):c.104A>G (p.His35Arg) rs775990952 0.00001
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp) rs747656068 0.00001
NM_024649.5(BBS1):c.1066C>T (p.Arg356Cys) rs747459381 0.00001
NM_024649.5(BBS1):c.10G>T (p.Ala4Ser) rs745375133 0.00001
NM_024649.5(BBS1):c.1144G>A (p.Gly382Arg) rs377297999 0.00001
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp) rs143495423 0.00001
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln) rs772235333 0.00001
NM_024649.5(BBS1):c.1253C>T (p.Pro418Leu) rs1410252393 0.00001
NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp) rs767247916 0.00001
NM_024649.5(BBS1):c.1303G>A (p.Val435Met) rs1181760871 0.00001
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu) rs374356964 0.00001
NM_024649.5(BBS1):c.1396G>A (p.Ala466Thr) rs1271245314 0.00001
NM_024649.5(BBS1):c.1442C>T (p.Thr481Ile) rs757132669 0.00001
NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln) rs779828966 0.00001
NM_024649.5(BBS1):c.1471G>A (p.Val491Met) rs377469172 0.00001
NM_024649.5(BBS1):c.1487G>A (p.Gly496Asp) rs1306126953 0.00001
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837 0.00001
NM_024649.5(BBS1):c.159G>A (p.Lys53=) rs1262106058 0.00001
NM_024649.5(BBS1):c.1640C>A (p.Pro547His) rs774636593 0.00001
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp) rs544767888 0.00001
NM_024649.5(BBS1):c.1687A>G (p.Ile563Val) rs374048871 0.00001
NM_024649.5(BBS1):c.1714G>A (p.Gly572Ser) rs758544060 0.00001
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys) rs761304709 0.00001
NM_024649.5(BBS1):c.184G>C (p.Gly62Arg) rs763878620 0.00001
NM_024649.5(BBS1):c.199C>T (p.Arg67Cys) rs767385250 0.00001
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu) rs1479663514 0.00001
NM_024649.5(BBS1):c.280A>G (p.Met94Val) rs1376711744 0.00001
NM_024649.5(BBS1):c.32C>T (p.Ala11Val) rs150122944 0.00001
NM_024649.5(BBS1):c.338A>T (p.Tyr113Phe) rs753517084 0.00001
NM_024649.5(BBS1):c.445C>T (p.Pro149Ser) rs762511224 0.00001
NM_024649.5(BBS1):c.464T>C (p.Met155Thr) rs879524751 0.00001
NM_024649.5(BBS1):c.48C>T (p.Ser16=) rs200255383 0.00001
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala) rs748946143 0.00001
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg) rs774163850 0.00001
NM_024649.5(BBS1):c.533A>G (p.Glu178Gly) rs1454643152 0.00001
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser) rs1207942097 0.00001
NM_024649.5(BBS1):c.587G>A (p.Arg196Gln) rs142769864 0.00001
NM_024649.5(BBS1):c.595G>A (p.Val199Ile) rs1300549627 0.00001
NM_024649.5(BBS1):c.602C>T (p.Thr201Ile) rs1368294392 0.00001
NM_024649.5(BBS1):c.646G>A (p.Val216Met) rs764165386 0.00001
NM_024649.5(BBS1):c.708C>G (p.Phe236Leu) rs1482951221 0.00001
NM_024649.5(BBS1):c.739G>A (p.Val247Ile) rs763004810 0.00001
NM_024649.5(BBS1):c.772G>C (p.Asp258His) rs779297419 0.00001
NM_024649.5(BBS1):c.818A>G (p.Tyr273Cys) rs765732035 0.00001
NM_024685.3(BBS10):c.-66C>T rs886049854 0.00001
NM_024685.4(BBS10):c.1088C>T (p.Pro363Leu) rs938066133 0.00001
NM_024685.4(BBS10):c.1123A>T (p.Ile375Phe) rs1289641509 0.00001
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103 0.00001
NM_024685.4(BBS10):c.1198T>C (p.Cys400Arg) rs1951762407 0.00001
NM_024685.4(BBS10):c.1211A>G (p.His404Arg) rs964776134 0.00001
NM_024685.4(BBS10):c.1234G>C (p.Asp412His) rs1413288461 0.00001
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val) rs1460652135 0.00001
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly) rs933207351 0.00001
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn) rs750994616 0.00001
NM_024685.4(BBS10):c.1588A>G (p.Arg530Gly) rs1951758303 0.00001
NM_024685.4(BBS10):c.1628A>G (p.Asn543Ser) rs1444034224 0.00001
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys) rs758489303 0.00001
NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser) rs1453771610 0.00001
NM_024685.4(BBS10):c.190A>G (p.Ile64Val) rs755814743 0.00001
NM_024685.4(BBS10):c.1918A>G (p.Ile640Val) rs748647079 0.00001
NM_024685.4(BBS10):c.196A>G (p.Arg66Gly) rs780874811 0.00001
NM_024685.4(BBS10):c.197+5C>T rs754503828 0.00001
NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys) rs778614911 0.00001
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp) rs756069503 0.00001
NM_024685.4(BBS10):c.206T>A (p.Val69Glu) rs1176176320 0.00001
NM_024685.4(BBS10):c.2132C>T (p.Pro711Leu) rs202134724 0.00001
NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter) rs959224608 0.00001
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe) rs767638924 0.00001
NM_024685.4(BBS10):c.235A>G (p.Thr79Ala) rs899733320 0.00001
NM_024685.4(BBS10):c.292C>A (p.His98Asn) rs748465517 0.00001
NM_024685.4(BBS10):c.327G>A (p.Met109Ile) rs1051916652 0.00001
NM_024685.4(BBS10):c.337A>G (p.Ile113Val) rs969686018 0.00001
NM_024685.4(BBS10):c.343A>G (p.Thr115Ala) rs147432159 0.00001
NM_024685.4(BBS10):c.344C>T (p.Thr115Ile) rs1254886838 0.00001
NM_024685.4(BBS10):c.380A>G (p.Lys127Arg) rs936655028 0.00001
NM_024685.4(BBS10):c.389C>T (p.Ser130Phe) rs766572403 0.00001
NM_024685.4(BBS10):c.397C>G (p.Leu133Val) rs750446869 0.00001
NM_024685.4(BBS10):c.411G>T (p.Gln137His) rs775342373 0.00001
NM_024685.4(BBS10):c.434T>C (p.Met145Thr) rs144312522 0.00001
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly) rs775747309 0.00001
NM_024685.4(BBS10):c.653T>A (p.Phe218Tyr) rs1316090880 0.00001
NM_024685.4(BBS10):c.691T>C (p.Ser231Pro) rs777951931 0.00001
NM_024685.4(BBS10):c.763A>G (p.Met255Val) rs772739860 0.00001
NM_024685.4(BBS10):c.7A>C (p.Ser3Arg) rs1396450993 0.00001
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly) rs759385121 0.00001
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu) rs1000990130 0.00001
NM_025132.4(WDR19):c.3526C>T (p.Leu1176Phe) rs1735527919 0.00001
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser) rs773720173 0.00001
NM_031885.5(BBS2):c.116A>G (p.Lys39Arg) rs779677560 0.00001
NM_031885.5(BBS2):c.117+5C>T rs1460934723 0.00001
NM_031885.5(BBS2):c.117G>A (p.Lys39=) rs755877218 0.00001
NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser) rs368138622 0.00001
NM_031885.5(BBS2):c.1240G>A (p.Ala414Thr) rs375585469 0.00001
NM_031885.5(BBS2):c.1267T>C (p.Phe423Leu) rs754625376 0.00001
NM_031885.5(BBS2):c.1297A>G (p.Ser433Gly) rs752065274 0.00001
NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln) rs772380071 0.00001
NM_031885.5(BBS2):c.143G>A (p.Arg48Gln) rs775577429 0.00001
NM_031885.5(BBS2):c.1486A>G (p.Ile496Val) rs549070573 0.00001
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val) rs374028829 0.00001
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg) rs1250423040 0.00001
NM_031885.5(BBS2):c.1601G>A (p.Cys534Tyr) rs1964174593 0.00001
NM_031885.5(BBS2):c.1602T>G (p.Cys534Trp) rs747228782 0.00001
NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile) rs370581600 0.00001
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser) rs1288834218 0.00001
NM_031885.5(BBS2):c.1804G>A (p.Glu602Lys) rs1199835895 0.00001
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys) rs752749569 0.00001
NM_031885.5(BBS2):c.184C>G (p.Leu62Val) rs201860939 0.00001
NM_031885.5(BBS2):c.1852T>G (p.Ser618Ala) rs1964133123 0.00001
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr) rs771822557 0.00001
NM_031885.5(BBS2):c.194A>T (p.Asp65Val) rs746643609 0.00001
NM_031885.5(BBS2):c.1981C>T (p.Arg661Cys) rs766476238 0.00001
NM_031885.5(BBS2):c.1991A>G (p.Asn664Ser) rs1963755946 0.00001
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln) rs1476749003 0.00001
NM_031885.5(BBS2):c.2087C>T (p.Thr696Ile) rs780369177 0.00001
NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp) rs1003841433 0.00001
NM_031885.5(BBS2):c.2152del (p.Thr718fs) rs1156738620 0.00001
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu) rs772864503 0.00001
NM_031885.5(BBS2):c.400C>T (p.Pro134Ser) rs1275057392 0.00001
NM_031885.5(BBS2):c.425G>A (p.Cys142Tyr) rs1348932407 0.00001
NM_031885.5(BBS2):c.581A>G (p.Asp194Gly) rs1325859248 0.00001
NM_031885.5(BBS2):c.619A>G (p.Thr207Ala) rs1183364786 0.00001
NM_031885.5(BBS2):c.717+5G>A rs1567579212 0.00001
NM_031885.5(BBS2):c.718-3C>T rs779134746 0.00001
NM_031885.5(BBS2):c.941-20G>A rs760109919 0.00001
NM_031885.5(BBS2):c.986T>C (p.Met329Thr) rs201146063 0.00001
NM_033028.5(BBS4):c.1072A>C (p.Lys358Gln) rs560253658 0.00001
NM_033028.5(BBS4):c.1107G>A (p.Lys369=) rs773893992 0.00001
NM_033028.5(BBS4):c.1172C>T (p.Ala391Val) rs1419955498 0.00001
NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro) rs569462424 0.00001
NM_033028.5(BBS4):c.1248+5G>A rs756449572 0.00001
NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp) rs914591602 0.00001
NM_033028.5(BBS4):c.1289T>C (p.Val430Ala) rs767070801 0.00001
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala) rs775122250 0.00001
NM_033028.5(BBS4):c.1319T>A (p.Val440Asp) rs754157578 0.00001
NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr) rs765715632 0.00001
NM_033028.5(BBS4):c.1336A>C (p.Lys446Gln) rs201230357 0.00001
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro) rs749034070 0.00001
NM_033028.5(BBS4):c.134G>A (p.Arg45Gln) rs1050164962 0.00001
NM_033028.5(BBS4):c.1394A>G (p.Asn465Ser) rs1214182249 0.00001
NM_033028.5(BBS4):c.1429G>A (p.Ala477Thr) rs760480986 0.00001
NM_033028.5(BBS4):c.14G>C (p.Arg5Thr) rs1307094685 0.00001
NM_033028.5(BBS4):c.179A>G (p.Gln60Arg) rs916245903 0.00001
NM_033028.5(BBS4):c.214G>A (p.Val72Ile) rs749578199 0.00001
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys) rs145168232 0.00001
NM_033028.5(BBS4):c.23C>T (p.Thr8Met) rs769894375 0.00001
NM_033028.5(BBS4):c.289A>C (p.Ser97Arg) rs2065449512 0.00001
NM_033028.5(BBS4):c.315G>T (p.Lys105Asn) rs766485888 0.00001
NM_033028.5(BBS4):c.31C>G (p.Gln11Glu) rs1040144478 0.00001
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr) rs530223854 0.00001
NM_033028.5(BBS4):c.461C>T (p.Ala154Val) rs756744863 0.00001
NM_033028.5(BBS4):c.469C>G (p.Gln157Glu) rs1177848403 0.00001
NM_033028.5(BBS4):c.593C>T (p.Ser198Leu) rs751076253 0.00001
NM_033028.5(BBS4):c.595C>T (p.Pro199Ser) rs371598044 0.00001
NM_033028.5(BBS4):c.5C>T (p.Ala2Val) rs923399180 0.00001
NM_033028.5(BBS4):c.61C>T (p.Pro21Ser) rs916749492 0.00001
NM_033028.5(BBS4):c.65G>A (p.Arg22Gln) rs775955872 0.00001
NM_033028.5(BBS4):c.697C>G (p.Pro233Ala) rs569388336 0.00001
NM_033028.5(BBS4):c.706T>C (p.Tyr236His) rs746172575 0.00001
NM_033028.5(BBS4):c.760G>A (p.Val254Ile) rs532770420 0.00001
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu) rs748048479 0.00001
NM_033028.5(BBS4):c.852G>T (p.Lys284Asn) rs12373005 0.00001
NM_033028.5(BBS4):c.863C>T (p.Ala288Val) rs772051835 0.00001
NM_033028.5(BBS4):c.884G>A (p.Arg295Gln) rs121434632 0.00001
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys) rs199831925 0.00001
NM_033028.5(BBS4):c.926A>C (p.Asn309Thr) rs1178593849 0.00001
NM_033028.5(BBS4):c.999C>G (p.Phe333Leu) rs774619624 0.00001
NM_144596.4(TTC8):c.103C>T (p.Pro35Ser) rs762461640 0.00001
NM_144596.4(TTC8):c.1133T>C (p.Met378Thr) rs1003053014 0.00001
NM_144596.4(TTC8):c.1171G>C (p.Glu391Gln) rs1253282084 0.00001
NM_144596.4(TTC8):c.1215T>G (p.His405Gln) rs753212470 0.00001
NM_144596.4(TTC8):c.1224+19A>G rs1329774650 0.00001
NM_144596.4(TTC8):c.1277A>T (p.Asn426Ile) rs575952395 0.00001
NM_144596.4(TTC8):c.1352G>A (p.Arg451Lys) rs772498950 0.00001
NM_144596.4(TTC8):c.1363C>A (p.Gln455Lys) rs773278542 0.00001
NM_144596.4(TTC8):c.1402C>T (p.His468Tyr) rs148602884 0.00001
NM_144596.4(TTC8):c.1420A>G (p.Ile474Val) rs1244721977 0.00001
NM_144596.4(TTC8):c.1544T>C (p.Leu515Pro) rs2094961758 0.00001
NM_144596.4(TTC8):c.175A>G (p.Thr59Ala) rs1335402056 0.00001
NM_144596.4(TTC8):c.265C>T (p.Arg89Cys) rs747646200 0.00001
NM_144596.4(TTC8):c.275C>T (p.Thr92Met) rs886050877 0.00001
NM_144596.4(TTC8):c.298A>G (p.Asn100Asp) rs758294605 0.00001
NM_144596.4(TTC8):c.355A>G (p.Ile119Val) rs1188208020 0.00001
NM_144596.4(TTC8):c.361G>A (p.Gly121Ser) rs771327965 0.00001
NM_144596.4(TTC8):c.386G>A (p.Ser129Asn) rs761817038 0.00001
NM_144596.4(TTC8):c.415A>G (p.Ile139Val) rs766062841 0.00001
NM_144596.4(TTC8):c.436T>C (p.Tyr146His) rs747125124 0.00001
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn) rs774233751 0.00001
NM_144596.4(TTC8):c.596T>A (p.Ile199Asn) rs753995884 0.00001
NM_144596.4(TTC8):c.631G>T (p.Asp211Tyr) rs377540438 0.00001
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr) rs1295139564 0.00001
NM_144596.4(TTC8):c.744T>G (p.Phe248Leu) rs1411331497 0.00001
NM_144596.4(TTC8):c.909G>C (p.Glu303Asp) rs1413362477 0.00001
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala) rs1220094479 0.00001
NM_152384.3(BBS5):c.133G>A (p.Gly45Arg) rs1244934291 0.00001
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser) rs754978707 0.00001
NM_152384.3(BBS5):c.259-3C>T rs564412855 0.00001
NM_152384.3(BBS5):c.266G>A (p.Arg89Gln) rs931751345 0.00001
NM_152384.3(BBS5):c.287A>G (p.Tyr96Cys) rs763784832 0.00001
NM_152384.3(BBS5):c.325A>G (p.Ile109Val) rs758307712 0.00001
NM_152384.3(BBS5):c.332C>T (p.Thr111Ile) rs375992092 0.00001
NM_152384.3(BBS5):c.364A>G (p.Thr122Ala) rs1244656681 0.00001
NM_152384.3(BBS5):c.472G>A (p.Glu158Lys) rs1683625962 0.00001
NM_152384.3(BBS5):c.60-10T>G rs1224093899 0.00001
NM_152384.3(BBS5):c.664A>G (p.Ile222Val) rs146488006 0.00001
NM_152384.3(BBS5):c.826C>T (p.Leu276Phe) rs770319545 0.00001
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys) rs759233586 0.00001
NM_152384.3(BBS5):c.887C>T (p.Thr296Met) rs755594935 0.00001
NM_152384.3(BBS5):c.900G>C (p.Val300=) rs757001492 0.00001
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr) rs1395749164 0.00001
NM_152618.3(BBS12):c.1064G>A (p.Arg355Gln) rs1474900361 0.00001
NM_152618.3(BBS12):c.1085A>G (p.Asp362Gly) rs1800908966 0.00001
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471 0.00001
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266 0.00001
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg) rs763765486 0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_152618.3(BBS12):c.1297G>A (p.Val433Ile) rs538077275 0.00001
NM_152618.3(BBS12):c.1390T>C (p.Cys464Arg) rs373652329 0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala) rs1357690062 0.00001
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg) rs144910481 0.00001
NM_152618.3(BBS12):c.1468A>G (p.Ile490Val) rs775189952 0.00001
NM_152618.3(BBS12):c.1490T>C (p.Ile497Thr) rs754049744 0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414 0.00001
NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys) rs770746493 0.00001
NM_152618.3(BBS12):c.1573C>T (p.Arg525Cys) rs760420127 0.00001
NM_152618.3(BBS12):c.1658T>A (p.Leu553His) rs753004315 0.00001
NM_152618.3(BBS12):c.1660G>T (p.Ala554Ser) rs1800929603 0.00001
NM_152618.3(BBS12):c.1686C>A (p.Asn562Lys) rs778686947 0.00001
NM_152618.3(BBS12):c.1768T>C (p.Phe590Leu) rs767882942 0.00001
NM_152618.3(BBS12):c.1823A>G (p.Asn608Ser) rs184225705 0.00001
NM_152618.3(BBS12):c.1849A>G (p.Thr617Ala) rs771057055 0.00001
NM_152618.3(BBS12):c.1883A>G (p.Asp628Gly) rs758135703 0.00001
NM_152618.3(BBS12):c.191G>A (p.Ser64Asn) rs1361081580 0.00001
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr) rs1361081580 0.00001
NM_152618.3(BBS12):c.1935T>G (p.Ser645Arg) rs905750251 0.00001
NM_152618.3(BBS12):c.2117G>C (p.Gly706Ala) rs759180956 0.00001
NM_152618.3(BBS12):c.37C>T (p.His13Tyr) rs964582500 0.00001
NM_152618.3(BBS12):c.382G>A (p.Val128Ile) rs375439566 0.00001
NM_152618.3(BBS12):c.508A>G (p.Ile170Val) rs1218692709 0.00001
NM_152618.3(BBS12):c.715A>T (p.Arg239Trp) rs1800898589 0.00001
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys) rs1179124061 0.00001
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly) rs752533681 0.00001
NM_152618.3(BBS12):c.801T>A (p.Asp267Glu) rs1183146847 0.00001
NM_152618.3(BBS12):c.830A>G (p.His277Arg) rs1456373861 0.00001
NM_152618.3(BBS12):c.908A>G (p.Asn303Ser) rs1399257163 0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542 0.00001
NM_176824.3(BBS7):c.1069T>G (p.Leu357Val) rs906692940 0.00001
NM_176824.3(BBS7):c.1091A>C (p.Gln364Pro) rs746699644 0.00001
NM_176824.3(BBS7):c.1124C>T (p.Ala375Val) rs749603454 0.00001
NM_176824.3(BBS7):c.1139G>A (p.Gly380Asp) rs921736196 0.00001
NM_176824.3(BBS7):c.1184G>A (p.Ser395Asn) rs889491713 0.00001
NM_176824.3(BBS7):c.1190T>C (p.Ile397Thr) rs1725962975 0.00001
NM_176824.3(BBS7):c.1344G>C (p.Gln448His) rs1473005529 0.00001
NM_176824.3(BBS7):c.1421C>G (p.Pro474Arg) rs771018739 0.00001
NM_176824.3(BBS7):c.1487G>A (p.Arg496Lys) rs750133083 0.00001
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr) rs200788672 0.00001
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly) rs746759579 0.00001
NM_176824.3(BBS7):c.1592T>C (p.Val531Ala) rs778439860 0.00001
NM_176824.3(BBS7):c.1691T>C (p.Val564Ala) rs1463083357 0.00001
NM_176824.3(BBS7):c.1717A>G (p.Ile573Val) rs751029709 0.00001
NM_176824.3(BBS7):c.1721C>G (p.Ser574Cys) rs765782762 0.00001
NM_176824.3(BBS7):c.1729A>C (p.Lys577Gln) rs200953128 0.00001
NM_176824.3(BBS7):c.1904A>T (p.His635Leu) rs1233960628 0.00001
NM_176824.3(BBS7):c.1916C>T (p.Thr639Met) rs773771144 0.00001
NM_176824.3(BBS7):c.1960G>C (p.Asp654His) rs143632090 0.00001
NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys) rs1044486579 0.00001
NM_176824.3(BBS7):c.198T>G (p.Ile66Met) rs367765050 0.00001
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr) rs1342336710 0.00001
NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys) rs1013002037 0.00001
NM_176824.3(BBS7):c.2017A>T (p.Met673Leu) rs1436556570 0.00001
NM_176824.3(BBS7):c.257C>T (p.Ala86Val) rs1274597386 0.00001
NM_176824.3(BBS7):c.262T>G (p.Ser88Ala) rs1489244436 0.00001
NM_176824.3(BBS7):c.277T>G (p.Phe93Val) rs750813339 0.00001
NM_176824.3(BBS7):c.329G>A (p.Ser110Asn) rs775395171 0.00001
NM_176824.3(BBS7):c.479G>A (p.Arg160His) rs138270119 0.00001
NM_176824.3(BBS7):c.640G>A (p.Gly214Arg) rs1226167451 0.00001
NM_176824.3(BBS7):c.650C>T (p.Ala217Val) rs370510563 0.00001
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr) rs766450289 0.00001
NM_176824.3(BBS7):c.786T>A (p.Asp262Glu) rs1437278443 0.00001
NM_176824.3(BBS7):c.849+6T>G rs759955004 0.00001
NM_176824.3(BBS7):c.852G>A (p.Met284Ile) rs771877302 0.00001
NM_176824.3(BBS7):c.895A>G (p.Lys299Glu) rs1275186434 0.00001
NM_176824.3(BBS7):c.944C>T (p.Thr315Ile) rs1488474028 0.00001
NM_176824.3(BBS7):c.964A>G (p.Ile322Val) rs762359988 0.00001
NM_176824.3(BBS7):c.983C>A (p.Pro328Gln) rs778714139 0.00001
NM_198428.3(BBS9):c.1033A>G (p.Ile345Val) rs1426530664 0.00001
NM_198428.3(BBS9):c.1048G>C (p.Asp350His) rs1450271969 0.00001
NM_198428.3(BBS9):c.1111G>A (p.Val371Ile) rs1366355966 0.00001
NM_198428.3(BBS9):c.1147G>A (p.Val383Ile) rs1030973947 0.00001
NM_198428.3(BBS9):c.1210A>G (p.Met404Val) rs779666112 0.00001
NM_198428.3(BBS9):c.122T>G (p.Ile41Ser) rs1381039813 0.00001
NM_198428.3(BBS9):c.1258A>G (p.Asn420Asp) rs1436119227 0.00001
NM_198428.3(BBS9):c.1329+5T>C rs200033003 0.00001
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr) rs773192233 0.00001
NM_198428.3(BBS9):c.1361A>G (p.Lys454Arg) rs370631861 0.00001
NM_198428.3(BBS9):c.1481G>A (p.Ser494Asn) rs775868685 0.00001
NM_198428.3(BBS9):c.1511C>T (p.Ala504Val) rs750504833 0.00001
NM_198428.3(BBS9):c.1538-7T>G rs375661214 0.00001
NM_198428.3(BBS9):c.1558C>T (p.Pro520Ser) rs149730302 0.00001
NM_198428.3(BBS9):c.155T>G (p.Phe52Cys) rs756750359 0.00001
NM_198428.3(BBS9):c.1574G>A (p.Cys525Tyr) rs746119144 0.00001
NM_198428.3(BBS9):c.1642A>G (p.Ile548Val) rs1050416352 0.00001
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala) rs1310602174 0.00001
NM_198428.3(BBS9):c.1699G>A (p.Ala567Thr) rs200439561 0.00001
NM_198428.3(BBS9):c.1819G>A (p.Glu607Lys) rs771575427 0.00001
NM_198428.3(BBS9):c.1836A>G (p.Ile612Met) rs752845007 0.00001
NM_198428.3(BBS9):c.1855C>T (p.Arg619Cys) rs543113169 0.00001
NM_198428.3(BBS9):c.1856G>A (p.Arg619His) rs750412402 0.00001
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu) rs771777721 0.00001
NM_198428.3(BBS9):c.1911G>A (p.Ser637=) rs138454676 0.00001
NM_198428.3(BBS9):c.1918_1920dup (p.Ile640dup) rs761174142 0.00001
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys) rs746543061 0.00001
NM_198428.3(BBS9):c.2072C>T (p.Pro691Leu) rs759571062 0.00001
NM_198428.3(BBS9):c.2088C>A (p.Asp696Glu) rs752548438 0.00001
NM_198428.3(BBS9):c.2099A>G (p.Asp700Gly) rs763790518 0.00001
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu) rs1402083567 0.00001
NM_198428.3(BBS9):c.2373G>T (p.Gln791His) rs758968522 0.00001
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser) rs774701632 0.00001
NM_198428.3(BBS9):c.2491G>A (p.Ala831Thr) rs1851012393 0.00001
NM_198428.3(BBS9):c.2533A>G (p.Thr845Ala) rs545725547 0.00001
NM_198428.3(BBS9):c.2566G>T (p.Val856Leu) rs764122627 0.00001
NM_198428.3(BBS9):c.2621C>T (p.Thr874Ile) rs750363787 0.00001
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser) rs755911247 0.00001
NM_198428.3(BBS9):c.2636T>A (p.Val879Asp) rs976242629 0.00001
NM_198428.3(BBS9):c.263C>T (p.Ser88Leu) rs749974697 0.00001
NM_198428.3(BBS9):c.2654T>C (p.Val885Ala) rs1238854328 0.00001
NM_198428.3(BBS9):c.395A>G (p.Gln132Arg) rs542324847 0.00001
NM_198428.3(BBS9):c.397A>G (p.Arg133Gly) rs759120113 0.00001
NM_198428.3(BBS9):c.410A>G (p.Asn137Ser) rs752108930 0.00001
NM_198428.3(BBS9):c.469A>G (p.Met157Val) rs148763093 0.00001
NM_198428.3(BBS9):c.49A>G (p.Lys17Glu) rs1329996453 0.00001
NM_198428.3(BBS9):c.632C>T (p.Ala211Val) rs1225416201 0.00001
NM_198428.3(BBS9):c.665C>T (p.Thr222Ile) rs1317691865 0.00001
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser) rs1279852557 0.00001
NM_198428.3(BBS9):c.839T>C (p.Met280Thr) rs143119193 0.00001
NM_198428.3(BBS9):c.894A>C (p.Glu298Asp) rs757469936 0.00001
NM_198428.3(BBS9):c.929A>T (p.Asn310Ile) rs1341125124 0.00001
NM_198428.3(BBS9):c.938A>G (p.His313Arg) rs533714503 0.00001
NM_198428.3(BBS9):c.979C>T (p.Pro327Ser) rs760272596 0.00001
NM_198428.3(BBS9):c.989C>T (p.Pro330Leu) rs370056161 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NC_000002.11:g.(?_169853125)_(170344644_?)dup
NC_000002.11:g.(?_170336064)_(170361092_?)dup
NC_000002.11:g.(?_170344296)_(170382206_?)dup
NC_000002.11:g.(?_62991401)_(64335444_?)dup
NC_000002.11:g.(?_63349141)_(63380709_?)del
NC_000002.11:g.(?_63380029)_(63401987_?)del
NC_000002.11:g.(?_63486422)_(63609249_?)del
NC_000002.11:g.(?_63540363)_(63667025_?)del
NC_000002.11:g.(?_63660859)_(63667025_?)dup
NC_000002.12:g.(?_63484584)_(63492960_?)del
NC_000007.13:g.(?_33136085)_(33185996_?)dup
NC_000007.13:g.(?_33185845)_(33185996_?)dup
NC_000007.13:g.(?_33185865)_(33644838_?)dup
NC_000007.13:g.(?_33192313)_(33195314_?)dup
NC_000007.13:g.(?_33644457)_(33644838_?)dup
NC_000007.13:g.(?_33644477)_(33767915_?)dup
NC_000007.14:g.(?_33095234)_(33146364_?)dup
NC_000007.14:g.(?_33505463)_(33505645_?)del
NC_000007.14:g.(?_33505463)_(33605226_?)del
NC_000009.11:g.(?_119461485)_(119475606_?)del
NC_000011.9:g.(?_66278131)_(66278730_?)dup
NC_000012.11:g.(?_76739593)_(76742138_?)dup
NC_000014.8:g.(?_88852143)_(89343774_?)dup
NC_000014.8:g.(?_89291052)_(89305916_?)dup
NC_000014.8:g.(?_89291052)_(89343754_?)dup
NC_000014.8:g.(?_89319295)_(89323641_?)del
NC_000014.8:g.(?_89327546)_(89327696_?)del
NC_000014.8:g.(?_89343618)_(89343754_?)del
NC_000015.10:g.(?_72676034)_(72704515_?)dup
NC_000015.9:g.(?_72978549)_(73029948_?)dup
NC_000015.9:g.(?_72978569)_(75190071_?)dup
NM_001144758.3(PHLDB1):c.2603G>A (p.Arg868His)
NM_001378454.1(ALMS1):c.10234G>T (p.Ala3412Ser) rs1454233838
NM_004758.4(TSPOAP1):c.25C>T (p.Arg9Trp)
NM_005269.3(GLI1):c.820G>C (p.Gly274Arg) rs563340967
NM_005465.7(AKT3):c.*5155_*5159dup rs577416381
NM_006642.5(SDCCAG8):c.*214_*217dup rs1057515485
NM_006642.5(SDCCAG8):c.*287A>G rs1057515459
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_012210.4(TRIM32):c.*811del rs886063382
NM_012210.4(TRIM32):c.1009A>G (p.Arg337Gly)
NM_012210.4(TRIM32):c.1013C>G (p.Ala338Gly)
NM_012210.4(TRIM32):c.1018C>A (p.Pro340Thr)
NM_012210.4(TRIM32):c.1031G>A (p.Arg344Gln)
NM_012210.4(TRIM32):c.1034G>C (p.Gly345Ala)
NM_012210.4(TRIM32):c.1045G>C (p.Ala349Pro)
NM_012210.4(TRIM32):c.1046C>T (p.Ala349Val) rs774316527
NM_012210.4(TRIM32):c.1095C>T (p.Gly365=) rs1861024296
NM_012210.4(TRIM32):c.1105G>A (p.Gly369Arg) rs2132073931
NM_012210.4(TRIM32):c.1110G>A (p.Met370Ile) rs1861024967
NM_012210.4(TRIM32):c.1114A>C (p.Asn372His)
NM_012210.4(TRIM32):c.1135G>A (p.Val379Met) rs1861026363
NM_012210.4(TRIM32):c.1139C>G (p.Thr380Ser) rs139277710
NM_012210.4(TRIM32):c.1143T>G (p.Ser381Arg) rs1861027670
NM_012210.4(TRIM32):c.1167C>A (p.Asp389Glu) rs2132074143
NM_012210.4(TRIM32):c.1199G>T (p.Arg400Leu) rs373015960
NM_012210.4(TRIM32):c.11C>T (p.Ala4Val)
NM_012210.4(TRIM32):c.1204G>A (p.Gly402Ser) rs555106908
NM_012210.4(TRIM32):c.1238G>T (p.Gly413Val)
NM_012210.4(TRIM32):c.1279C>T (p.Pro427Ser) rs2132074445
NM_012210.4(TRIM32):c.1285C>T (p.Leu429Phe) rs757634856
NM_012210.4(TRIM32):c.1303G>A (p.Ala435Thr) rs1861037722
NM_012210.4(TRIM32):c.1313G>A (p.Cys438Tyr) rs1861038374
NM_012210.4(TRIM32):c.1315C>G (p.Gln439Glu) rs2132074558
NM_012210.4(TRIM32):c.1354C>A (p.Leu452Ile)
NM_012210.4(TRIM32):c.1376G>A (p.Gly459Asp)
NM_012210.4(TRIM32):c.137A>G (p.Gln46Arg)
NM_012210.4(TRIM32):c.1381T>C (p.Cys461Arg)
NM_012210.4(TRIM32):c.1387G>C (p.Ala463Pro) rs886043897
NM_012210.4(TRIM32):c.1434G>T (p.Leu478Phe)
NM_012210.4(TRIM32):c.1449T>G (p.Phe483Leu) rs2132074954
NM_012210.4(TRIM32):c.1499G>A (p.Arg500Gln)
NM_012210.4(TRIM32):c.149A>C (p.Lys50Thr)
NM_012210.4(TRIM32):c.1510G>T (p.Val504Leu) rs1165772522
NM_012210.4(TRIM32):c.1546C>T (p.Pro516Ser)
NM_012210.4(TRIM32):c.1579G>T (p.Val527Phe) rs368901621
NM_012210.4(TRIM32):c.1583A>G (p.Tyr528Cys)
NM_012210.4(TRIM32):c.1593G>A (p.Gln531=) rs2132075353
NM_012210.4(TRIM32):c.1601G>A (p.Gly534Asp) rs2132075369
NM_012210.4(TRIM32):c.164G>T (p.Ser55Ile) rs1564215128
NM_012210.4(TRIM32):c.1687C>T (p.Arg563Cys)
NM_012210.4(TRIM32):c.1688G>T (p.Arg563Leu)
NM_012210.4(TRIM32):c.1695T>G (p.Ile565Met) rs1564218246
NM_012210.4(TRIM32):c.1696A>G (p.Ser566Gly) rs779755416
NM_012210.4(TRIM32):c.1703TCT[1] (p.Phe569del) rs1190512893
NM_012210.4(TRIM32):c.1726C>T (p.Arg576Cys)
NM_012210.4(TRIM32):c.1729T>C (p.Cys577Arg)
NM_012210.4(TRIM32):c.1757G>A (p.Arg586His) rs866695848
NM_012210.4(TRIM32):c.1757G>C (p.Arg586Pro)
NM_012210.4(TRIM32):c.1757G>T (p.Arg586Leu) rs866695848
NM_012210.4(TRIM32):c.1757GTG[1] (p.Gly587del)
NM_012210.4(TRIM32):c.1763A>T (p.Asp588Val) rs746890090
NM_012210.4(TRIM32):c.1768A>G (p.Ile590Val)
NM_012210.4(TRIM32):c.1786C>G (p.Arg596Gly) rs765348678
NM_012210.4(TRIM32):c.1786C>T (p.Arg596Cys) rs765348678
NM_012210.4(TRIM32):c.1787G>A (p.Arg596His) rs750300057
NM_012210.4(TRIM32):c.178C>A (p.Arg60Ser) rs1353830472
NM_012210.4(TRIM32):c.179G>A (p.Arg60His) rs751028044
NM_012210.4(TRIM32):c.179G>T (p.Arg60Leu) rs751028044
NM_012210.4(TRIM32):c.1858G>A (p.Val620Met) rs1861072162
NM_012210.4(TRIM32):c.1864A>G (p.Ile622Val) rs1366193406
NM_012210.4(TRIM32):c.1870C>G (p.Leu624Val) rs1564218609
NM_012210.4(TRIM32):c.1871T>C (p.Leu624Pro) rs761193342
NM_012210.4(TRIM32):c.1874C>T (p.Thr625Ile) rs1861074314
NM_012210.4(TRIM32):c.1879A>G (p.Lys627Glu)
NM_012210.4(TRIM32):c.1885C>T (p.Gln629Ter)
NM_012210.4(TRIM32):c.1888C>G (p.Leu630Val)
NM_012210.4(TRIM32):c.188T>C (p.Phe63Ser) rs1860952573
NM_012210.4(TRIM32):c.1934A>G (p.Tyr645Cys) rs1861076438
NM_012210.4(TRIM32):c.1948T>C (p.Tyr650His) rs1861077008
NM_012210.4(TRIM32):c.1951T>C (p.Ser651Pro) rs1402865703
NM_012210.4(TRIM32):c.1955C>T (p.Thr652Ile) rs2132076367
NM_012210.4(TRIM32):c.20C>T (p.Ser7Phe)
NM_012210.4(TRIM32):c.232G>A (p.Asp78Asn) rs1252982308
NM_012210.4(TRIM32):c.236A>T (p.Asn79Ile)
NM_012210.4(TRIM32):c.242C>T (p.Thr81Ile)
NM_012210.4(TRIM32):c.244G>A (p.Val82Met) rs1167389328
NM_012210.4(TRIM32):c.251A>T (p.Lys84Met)
NM_012210.4(TRIM32):c.276C>A (p.Ser92Arg) rs140589523
NM_012210.4(TRIM32):c.280G>A (p.Ala94Thr) rs1231169096
NM_012210.4(TRIM32):c.281C>T (p.Ala94Val) rs997358002
NM_012210.4(TRIM32):c.316C>T (p.Arg106Cys) rs1390593037
NM_012210.4(TRIM32):c.317G>A (p.Arg106His) rs760730435
NM_012210.4(TRIM32):c.319C>G (p.Leu107Val) rs886042410
NM_012210.4(TRIM32):c.338G>A (p.Arg113Gln)
NM_012210.4(TRIM32):c.341G>A (p.Ser114Asn) rs192516080
NM_012210.4(TRIM32):c.347G>A (p.Gly116Asp) rs767024504
NM_012210.4(TRIM32):c.381C>G (p.Asp127Glu)
NM_012210.4(TRIM32):c.389C>T (p.Pro130Leu)
NM_012210.4(TRIM32):c.398A>G (p.His133Arg) rs1860971813
NM_012210.4(TRIM32):c.40C>T (p.Leu14Phe) rs756350336
NM_012210.4(TRIM32):c.410C>T (p.Pro137Leu)
NM_012210.4(TRIM32):c.413T>G (p.Val138Gly) rs918796736
NM_012210.4(TRIM32):c.422C>A (p.Ala141Glu) rs930137730
NM_012210.4(TRIM32):c.437G>A (p.Arg146His) rs1473368288
NM_012210.4(TRIM32):c.442G>C (p.Asp148His)
NM_012210.4(TRIM32):c.464G>C (p.Arg155Pro) rs777914761
NM_012210.4(TRIM32):c.469C>T (p.Arg157Trp)
NM_012210.4(TRIM32):c.479T>C (p.Met160Thr) rs199699832
NM_012210.4(TRIM32):c.479T>G (p.Met160Arg) rs199699832
NM_012210.4(TRIM32):c.480G>C (p.Met160Ile) rs200196832
NM_012210.4(TRIM32):c.485A>G (p.Glu162Gly) rs1018629963
NM_012210.4(TRIM32):c.494G>A (p.Arg165Gln) rs761591526
NM_012210.4(TRIM32):c.56A>C (p.Glu19Ala)
NM_012210.4(TRIM32):c.572A>G (p.Glu191Gly) rs2132072188
NM_012210.4(TRIM32):c.583G>T (p.Val195Phe)
NM_012210.4(TRIM32):c.590A>G (p.Asp197Gly)
NM_012210.4(TRIM32):c.601C>G (p.Arg201Gly) rs147304059
NM_012210.4(TRIM32):c.601C>T (p.Arg201Cys) rs147304059
NM_012210.4(TRIM32):c.608G>A (p.Arg203Gln)
NM_012210.4(TRIM32):c.609G>T (p.Arg203=) rs2132072344
NM_012210.4(TRIM32):c.638T>G (p.Val213Gly) rs1860990982
NM_012210.4(TRIM32):c.661G>A (p.Val221Ile)
NM_012210.4(TRIM32):c.682C>T (p.Leu228Phe) rs1860993761
NM_012210.4(TRIM32):c.697G>T (p.Val233Leu) rs747723402
NM_012210.4(TRIM32):c.700C>A (p.Gln234Lys) rs886043553
NM_012210.4(TRIM32):c.706G>A (p.Val236Met)
NM_012210.4(TRIM32):c.710_712del (p.Ser237_Arg238delinsCys)
NM_012210.4(TRIM32):c.713G>T (p.Arg238Leu) rs564290779
NM_012210.4(TRIM32):c.735G>T (p.Lys245Asn)
NM_012210.4(TRIM32):c.739A>G (p.Lys247Glu) rs2132072729
NM_012210.4(TRIM32):c.750T>G (p.Asp250Glu)
NM_012210.4(TRIM32):c.75G>C (p.Glu25Asp) rs1262596490
NM_012210.4(TRIM32):c.769A>C (p.Thr257Pro) rs2132072833
NM_012210.4(TRIM32):c.770C>T (p.Thr257Ile)
NM_012210.4(TRIM32):c.778GAG[2] (p.Glu262del) rs545471341
NM_012210.4(TRIM32):c.811C>G (p.Arg271Gly) rs372298402
NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp) rs372298402
NM_012210.4(TRIM32):c.827A>C (p.Gln276Pro)
NM_012210.4(TRIM32):c.836A>T (p.Glu279Val)
NM_012210.4(TRIM32):c.842T>C (p.Leu281Pro) rs1861006758
NM_012210.4(TRIM32):c.851G>A (p.Gly284Asp) rs1861007449
NM_012210.4(TRIM32):c.856G>A (p.Val286Ile) rs776918693
NM_012210.4(TRIM32):c.863C>T (p.Pro288Leu)
NM_012210.4(TRIM32):c.873T>G (p.Ile291Met) rs766687896
NM_012210.4(TRIM32):c.875G>A (p.Gly292Glu) rs1554732992
NM_012210.4(TRIM32):c.883G>T (p.Val295Phe) rs1554732997
NM_012210.4(TRIM32):c.893C>T (p.Pro298Leu) rs2132073313
NM_012210.4(TRIM32):c.901G>A (p.Val301Ile) rs1490242765
NM_012210.4(TRIM32):c.925A>G (p.Met309Val) rs1861013304
NM_012210.4(TRIM32):c.925A>T (p.Met309Leu) rs1861013304
NM_012210.4(TRIM32):c.926T>C (p.Met309Thr)
NM_012210.4(TRIM32):c.941C>T (p.Ser314Phe)
NM_012210.4(TRIM32):c.973A>T (p.Met325Leu)
NM_012210.4(TRIM32):c.981G>A (p.Met327Ile)
NM_012210.4(TRIM32):c.986C>G (p.Pro329Arg) rs377510422
NM_012210.4(TRIM32):c.991_992delinsTT (p.Glu331Leu) rs2132073592
NM_015102.5(NPHP4):c.2126A>G (p.Asp709Gly)
NM_015102.5(NPHP4):c.2290G>A (p.Ala764Thr)
NM_015662.3(IFT172):c.199T>C (p.Tyr67His)
NM_015662.3(IFT172):c.3808A>C (p.Lys1270Gln)
NM_015910.6(WDPCP):c.-322delT rs886056228
NM_015910.7(WDPCP):c.*138GTTT[1] rs886056221
NM_015910.7(WDPCP):c.*586AG[2] rs886056220
NM_015910.7(WDPCP):c.-108GCG[6] rs563531309
NM_015910.7(WDPCP):c.1023C>G (p.Ile341Met) rs2105191115
NM_015910.7(WDPCP):c.1028G>A (p.Cys343Tyr) rs755715881
NM_015910.7(WDPCP):c.102G>A (p.Met34Ile) rs1233974354
NM_015910.7(WDPCP):c.1053A>C (p.Lys351Asn)
NM_015910.7(WDPCP):c.1081C>G (p.Leu361Val)
NM_015910.7(WDPCP):c.10G>A (p.Glu4Lys) rs763789574
NM_015910.7(WDPCP):c.1108G>C (p.Val370Leu)
NM_015910.7(WDPCP):c.1156C>T (p.His386Tyr)
NM_015910.7(WDPCP):c.1166G>A (p.Gly389Asp) rs1575343526
NM_015910.7(WDPCP):c.1180G>C (p.Val394Leu) rs1694385958
NM_015910.7(WDPCP):c.1181T>C (p.Val394Ala)
NM_015910.7(WDPCP):c.1231A>G (p.Ile411Val)
NM_015910.7(WDPCP):c.1237A>G (p.Ile413Val) rs1694378572
NM_015910.7(WDPCP):c.1238T>G (p.Ile413Ser) rs952405240
NM_015910.7(WDPCP):c.1295T>C (p.Phe432Ser)
NM_015910.7(WDPCP):c.1297G>T (p.Asp433Tyr)
NM_015910.7(WDPCP):c.130T>C (p.Trp44Arg) rs1280928455
NM_015910.7(WDPCP):c.1322T>C (p.Met441Thr) rs886056224
NM_015910.7(WDPCP):c.133T>G (p.Ser45Ala) rs1232978776
NM_015910.7(WDPCP):c.1340A>G (p.Gln447Arg) rs2105185377
NM_015910.7(WDPCP):c.1356G>T (p.Lys452Asn) rs372258764
NM_015910.7(WDPCP):c.1358G>T (p.Gly453Val)
NM_015910.7(WDPCP):c.1373T>C (p.Ile458Thr) rs2105184946
NM_015910.7(WDPCP):c.1415G>A (p.Gly472Asp) rs1694358624
NM_015910.7(WDPCP):c.1421T>C (p.Leu474Pro) rs1575342542
NM_015910.7(WDPCP):c.1435+18A>G rs777055382
NM_015910.7(WDPCP):c.1435+4A>C rs1694355240
NM_015910.7(WDPCP):c.1457T>C (p.Leu486Pro) rs2104901919
NM_015910.7(WDPCP):c.1471A>G (p.Ile491Val) rs1160883774
NM_015910.7(WDPCP):c.1491C>G (p.His497Gln) rs577571642
NM_015910.7(WDPCP):c.1519A>T (p.Ile507Phe) rs754985173
NM_015910.7(WDPCP):c.1527C>A (p.Ser509Arg)
NM_015910.7(WDPCP):c.1530C>A (p.Ser510Arg) rs1417068972
NM_015910.7(WDPCP):c.1533G>A (p.Met511Ile) rs2104900509
NM_015910.7(WDPCP):c.1538G>C (p.Trp513Ser) rs2104900470
NM_015910.7(WDPCP):c.1547T>A (p.Leu516Gln) rs1692348691
NM_015910.7(WDPCP):c.154A>G (p.Ile52Val)
NM_015910.7(WDPCP):c.1559G>A (p.Cys520Tyr) rs1692347777
NM_015910.7(WDPCP):c.1574G>A (p.Ser525Asn)
NM_015910.7(WDPCP):c.1591CTT[1] (p.Leu532del) rs748711953
NM_015910.7(WDPCP):c.1625-3C>T rs1692041154
NM_015910.7(WDPCP):c.1651T>G (p.Phe551Val) rs992864301
NM_015910.7(WDPCP):c.1652T>G (p.Phe551Cys) rs1333720503
NM_015910.7(WDPCP):c.1655A>G (p.Tyr552Cys)
NM_015910.7(WDPCP):c.1676T>C (p.Leu559Pro) rs2104858625
NM_015910.7(WDPCP):c.1703A>C (p.Asp568Ala)
NM_015910.7(WDPCP):c.1703A>T (p.Asp568Val)
NM_015910.7(WDPCP):c.1715A>C (p.Lys572Thr)
NM_015910.7(WDPCP):c.172G>A (p.Gly58Arg) rs190629484
NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu) rs778132438
NM_015910.7(WDPCP):c.1736A>C (p.His579Pro)
NM_015910.7(WDPCP):c.1748+3G>C rs2104857373
NM_015910.7(WDPCP):c.1796C>T (p.Ala599Val)
NM_015910.7(WDPCP):c.1798C>G (p.Arg600Gly) rs747517141
NM_015910.7(WDPCP):c.1799G>C (p.Arg600Pro)
NM_015910.7(WDPCP):c.1812+3G>A
NM_015910.7(WDPCP):c.1813-3C>T rs772639117
NM_015910.7(WDPCP):c.1817T>G (p.Ile606Ser)
NM_015910.7(WDPCP):c.1818T>G (p.Ile606Met)
NM_015910.7(WDPCP):c.181C>A (p.Gln61Lys)
NM_015910.7(WDPCP):c.1846T>A (p.Leu616Met) rs779790542
NM_015910.7(WDPCP):c.1849G>A (p.Ala617Thr) rs765912876
NM_015910.7(WDPCP):c.187T>G (p.Tyr63Asp)
NM_015910.7(WDPCP):c.1882G>A (p.Asp628Asn)
NM_015910.7(WDPCP):c.1915+3A>C rs2104771665
NM_015910.7(WDPCP):c.1922T>G (p.Leu641Arg) rs1673680183
NM_015910.7(WDPCP):c.1942G>T (p.Asp648Tyr)
NM_015910.7(WDPCP):c.1945A>G (p.Met649Val) rs759281211
NM_015910.7(WDPCP):c.1970T>C (p.Leu657Pro)
NM_015910.7(WDPCP):c.1991A>T (p.Glu664Val)
NM_015910.7(WDPCP):c.1A>C (p.Met1Leu)
NM_015910.7(WDPCP):c.2001T>G (p.Phe667Leu)
NM_015910.7(WDPCP):c.2017C>T (p.Pro673Ser)
NM_015910.7(WDPCP):c.2051A>G (p.Gln684Arg)
NM_015910.7(WDPCP):c.2078G>T (p.Arg693Ile)
NM_015910.7(WDPCP):c.2079-3C>T
NM_015910.7(WDPCP):c.2083A>G (p.Ile695Val)
NM_015910.7(WDPCP):c.2087T>C (p.Ile696Thr) rs1672025805
NM_015910.7(WDPCP):c.2089G>C (p.Asp697His)
NM_015910.7(WDPCP):c.2102A>C (p.Glu701Ala)
NM_015910.7(WDPCP):c.2107G>C (p.Glu703Gln)
NM_015910.7(WDPCP):c.2123C>A (p.Ser708Tyr) rs1672022341
NM_015910.7(WDPCP):c.2125G>A (p.Gly709Arg) rs1228276176
NM_015910.7(WDPCP):c.2171G>C (p.Arg724Thr)
NM_015910.7(WDPCP):c.218A>G (p.His73Arg) rs1481685257
NM_015910.7(WDPCP):c.2192A>T (p.Glu731Val) rs1669577990
NM_015910.7(WDPCP):c.2230G>A (p.Gly744Ser) rs1669575177
NM_015910.7(WDPCP):c.227T>C (p.Leu76Ser)
NM_015910.7(WDPCP):c.242A>G (p.Lys81Arg) rs545984327
NM_015910.7(WDPCP):c.26C>G (p.Ala9Gly) rs2106583961
NM_015910.7(WDPCP):c.287G>A (p.Arg96His)
NM_015910.7(WDPCP):c.296A>C (p.Lys99Thr) rs772670414
NM_015910.7(WDPCP):c.296A>G (p.Lys99Arg)
NM_015910.7(WDPCP):c.29_31del (p.Tyr10del) rs2106583906
NM_015910.7(WDPCP):c.304G>A (p.Asp102Asn)
NM_015910.7(WDPCP):c.313A>G (p.Lys105Glu) rs2105907063
NM_015910.7(WDPCP):c.324+6T>C rs1700475057
NM_015910.7(WDPCP):c.32C>T (p.Ser11Phe)
NM_015910.7(WDPCP):c.335A>G (p.Gln112Arg)
NM_015910.7(WDPCP):c.344G>A (p.Arg115Gln) rs748871007
NM_015910.7(WDPCP):c.346T>G (p.Cys116Gly)
NM_015910.7(WDPCP):c.385-3T>C rs2105522569
NM_015910.7(WDPCP):c.394G>C (p.Gly132Arg) rs1697389440
NM_015910.7(WDPCP):c.396T>C (p.Gly132=)
NM_015910.7(WDPCP):c.428G>A (p.Gly143Glu) rs1697385242
NM_015910.7(WDPCP):c.440A>G (p.Glu147Gly)
NM_015910.7(WDPCP):c.442A>G (p.Lys148Glu) rs373247460
NM_015910.7(WDPCP):c.452T>C (p.Ile151Thr)
NM_015910.7(WDPCP):c.467T>G (p.Val156Gly)
NM_015910.7(WDPCP):c.473A>G (p.Lys158Arg)
NM_015910.7(WDPCP):c.47G>A (p.Ser16Asn) rs1709010736
NM_015910.7(WDPCP):c.493A>G (p.Ser165Gly)
NM_015910.7(WDPCP):c.499+3A>G
NM_015910.7(WDPCP):c.514A>C (p.Ser172Arg)
NM_015910.7(WDPCP):c.52G>C (p.Ala18Pro) rs1381507084
NM_015910.7(WDPCP):c.535T>G (p.Leu179Val)
NM_015910.7(WDPCP):c.53C>T (p.Ala18Val)
NM_015910.7(WDPCP):c.549A>T (p.Lys183Asn) rs1697214336
NM_015910.7(WDPCP):c.551T>C (p.Leu184Pro) rs1198983391
NM_015910.7(WDPCP):c.5G>A (p.Arg2Lys)
NM_015910.7(WDPCP):c.620C>G (p.Ala207Gly)
NM_015910.7(WDPCP):c.629A>G (p.Tyr210Cys) rs1697208498
NM_015910.7(WDPCP):c.634-7T>G
NM_015910.7(WDPCP):c.654C>A (p.Pro218=)
NM_015910.7(WDPCP):c.680G>A (p.Arg227Gln)
NM_015910.7(WDPCP):c.680_682del (p.Arg227del)
NM_015910.7(WDPCP):c.688G>T (p.Ala230Ser) rs937072665
NM_015910.7(WDPCP):c.68C>G (p.Pro23Arg)
NM_015910.7(WDPCP):c.68C>T (p.Pro23Leu) rs141340867
NM_015910.7(WDPCP):c.704A>C (p.His235Pro) rs567879550
NM_015910.7(WDPCP):c.71G>A (p.Arg24Lys)
NM_015910.7(WDPCP):c.730C>G (p.Leu244Val) rs1177072150
NM_015910.7(WDPCP):c.73C>A (p.Gln25Lys) rs1324126661
NM_015910.7(WDPCP):c.75+3G>C
NM_015910.7(WDPCP):c.76-3C>T rs1700986922
NM_015910.7(WDPCP):c.760_786del (p.Pro254_Ala262del) rs774995085
NM_015910.7(WDPCP):c.763A>G (p.Ile255Val) rs764485190
NM_015910.7(WDPCP):c.763A>T (p.Ile255Phe) rs764485190
NM_015910.7(WDPCP):c.779A>T (p.Asp260Val) rs2105466361
NM_015910.7(WDPCP):c.785C>T (p.Ala262Val)
NM_015910.7(WDPCP):c.826-9_826-6del rs2105194923
NM_015910.7(WDPCP):c.845C>G (p.Thr282Arg) rs1241185405
NM_015910.7(WDPCP):c.852G>C (p.Trp284Cys) rs2105194171
NM_015910.7(WDPCP):c.869G>A (p.Arg290His) rs753480088
NM_015910.7(WDPCP):c.875G>T (p.Gly292Val)
NM_015910.7(WDPCP):c.922G>A (p.Val308Ile) rs2105192919
NM_015910.7(WDPCP):c.928A>G (p.Lys310Glu)
NM_015910.7(WDPCP):c.955T>G (p.Tyr319Asp) rs863224771
NM_015910.7(WDPCP):c.970A>T (p.Asn324Tyr)
NM_015910.7(WDPCP):c.99G>C (p.Gln33His)
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp) rs758838271
NM_017777.4(MKS1):c.466G>A (p.Val156Ile)
NM_020366.4(RPGRIP1):c.2669G>C (p.Arg890Pro)
NM_020366.4(RPGRIP1):c.337C>G (p.Leu113Val)
NM_024649.5(BBS1):c.*562_*563dup rs886048529
NM_024649.5(BBS1):c.1006C>G (p.Leu336Val) rs765494351
NM_024649.5(BBS1):c.1016A>T (p.His339Leu) rs1389335279
NM_024649.5(BBS1):c.1020_1021delinsGT (p.Arg341Trp)
NM_024649.5(BBS1):c.1033G>T (p.Ala345Ser)
NM_024649.5(BBS1):c.1075C>T (p.Arg359Cys)
NM_024649.5(BBS1):c.1076G>A (p.Arg359His)
NM_024649.5(BBS1):c.1076G>T (p.Arg359Leu) rs147766972
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1106C>T (p.Thr369Ile)
NM_024649.5(BBS1):c.1108C>T (p.Pro370Ser) rs2134797927
NM_024649.5(BBS1):c.1112A>G (p.Asp371Gly)
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1139G>T (p.Arg380Leu)
NM_024649.5(BBS1):c.1141T>C (p.Tyr381His)
NM_024649.5(BBS1):c.1155C>G (p.Asp385Glu) rs1856480450
NM_024649.5(BBS1):c.1162C>G (p.Leu388Val)
NM_024649.5(BBS1):c.1164CAT[1] (p.Ile389del) rs1401696592
NM_024649.5(BBS1):c.1168A>G (p.Met390Val)
NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly) rs1160669210
NM_024649.5(BBS1):c.1181-3T>G rs1856511506
NM_024649.5(BBS1):c.1181-9C>G rs769820955
NM_024649.5(BBS1):c.1184G>T (p.Gly395Val) rs2134812092
NM_024649.5(BBS1):c.1193T>C (p.Ile398Thr)
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro) rs767150997
NM_024649.5(BBS1):c.1210C>A (p.Arg404Ser) rs2134812288
NM_024649.5(BBS1):c.1211G>A (p.Arg404His)
NM_024649.5(BBS1):c.1225G>T (p.Val409Leu)
NM_024649.5(BBS1):c.1244T>G (p.Val415Gly)
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr) rs1346584719
NM_024649.5(BBS1):c.1267A>G (p.Met423Val)
NM_024649.5(BBS1):c.1286G>A (p.Arg429Gln)
NM_024649.5(BBS1):c.1339+13C>G
NM_024649.5(BBS1):c.1339+5G>A rs2134813058
NM_024649.5(BBS1):c.1348C>T (p.Arg450Trp)
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys) rs745460551
NM_024649.5(BBS1):c.1379G>A (p.Arg460His)
NM_024649.5(BBS1):c.1384C>T (p.Arg462Cys)
NM_024649.5(BBS1):c.1385G>A (p.Arg462His)
NM_024649.5(BBS1):c.1385G>T (p.Arg462Leu)
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys) rs374706769
NM_024649.5(BBS1):c.1468G>A (p.Ala490Thr)
NM_024649.5(BBS1):c.1473+3G>A
NM_024649.5(BBS1):c.1497T>C (p.Phe499=)
NM_024649.5(BBS1):c.14C>T (p.Ser5Phe)
NM_024649.5(BBS1):c.1508_1509delinsAC (p.Leu503His) rs886044274
NM_024649.5(BBS1):c.152A>C (p.Glu51Ala)
NM_024649.5(BBS1):c.1532C>T (p.Thr511Ile)
NM_024649.5(BBS1):c.1534C>T (p.Arg512Cys)
NM_024649.5(BBS1):c.1535G>T (p.Arg512Leu)
NM_024649.5(BBS1):c.1544T>A (p.Leu515Gln)
NM_024649.5(BBS1):c.1565T>C (p.Leu522Pro) rs752247232
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.1577C>T (p.Ala526Val)
NM_024649.5(BBS1):c.159+4A>G
NM_024649.5(BBS1):c.1591C>A (p.Pro531Thr)
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu) rs142648652
NM_024649.5(BBS1):c.1600_1601delinsGC (p.Phe534Ala) rs2134837535
NM_024649.5(BBS1):c.1609-7A>G
NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu) rs778941006
NM_024649.5(BBS1):c.1643T>C (p.Leu548Pro) rs2134840970
NM_024649.5(BBS1):c.1660A>C (p.Ser554Arg)
NM_024649.5(BBS1):c.1673A>G (p.Lys558Arg) rs2134841179
NM_024649.5(BBS1):c.1693A>G (p.Lys565Glu) rs1856791342
NM_024649.5(BBS1):c.1694A>C (p.Lys565Thr)
NM_024649.5(BBS1):c.1695+4G>C
NM_024649.5(BBS1):c.1696-10T>G
NM_024649.5(BBS1):c.1696-1G>A rs1856802024
NM_024649.5(BBS1):c.1708C>G (p.Arg570Gly) rs1434577015
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln) rs1856803176
NM_024649.5(BBS1):c.1721G>A (p.Ser574Asn)
NM_024649.5(BBS1):c.1737T>G (p.Ser579Arg) rs1856804554
NM_024649.5(BBS1):c.1752G>A (p.Met584Ile) rs769773058
NM_024649.5(BBS1):c.1753C>A (p.Pro585Thr)
NM_024649.5(BBS1):c.1777G>T (p.Ala593Ser)
NM_024649.5(BBS1):c.179G>C (p.Gly60Ala)
NM_024649.5(BBS1):c.194A>G (p.Gln65Arg) rs1856007588
NM_024649.5(BBS1):c.223C>A (p.Leu75Met)
NM_024649.5(BBS1):c.227T>A (p.Val76Glu) rs2134771309
NM_024649.5(BBS1):c.230T>C (p.Met77Thr) rs377037816
NM_024649.5(BBS1):c.254T>G (p.Leu85Arg)
NM_024649.5(BBS1):c.256C>T (p.Pro86Ser) rs2134771356
NM_024649.5(BBS1):c.290A>G (p.His97Arg)
NM_024649.5(BBS1):c.298C>T (p.Arg100Trp)
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.316C>T (p.Leu106Phe) rs137853913
NM_024649.5(BBS1):c.337T>C (p.Tyr113His) rs2134771484
NM_024649.5(BBS1):c.35G>A (p.Cys12Tyr)
NM_024649.5(BBS1):c.374G>A (p.Ser125Asn)
NM_024649.5(BBS1):c.398C>T (p.Pro133Leu)
NM_024649.5(BBS1):c.41C>T (p.Ala14Val)
NM_024649.5(BBS1):c.424G>T (p.Ala142Ser)
NM_024649.5(BBS1):c.433G>T (p.Asp145Tyr)
NM_024649.5(BBS1):c.446C>T (p.Pro149Leu) rs1486897768
NM_024649.5(BBS1):c.465G>A (p.Met155Ile)
NM_024649.5(BBS1):c.480G>T (p.Arg160=)
NM_024649.5(BBS1):c.491A>G (p.Glu164Gly) rs1319438351
NM_024649.5(BBS1):c.514C>T (p.Leu172Phe) rs1026985396
NM_024649.5(BBS1):c.586C>T (p.Arg196Trp)
NM_024649.5(BBS1):c.592-20C>G rs778903752
NM_024649.5(BBS1):c.592-7_592-5del rs774944051
NM_024649.5(BBS1):c.59A>G (p.Asn20Ser)
NM_024649.5(BBS1):c.605C>G (p.Thr202Ser)
NM_024649.5(BBS1):c.614C>T (p.Thr205Ile)
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn) rs2134780459
NM_024649.5(BBS1):c.650C>T (p.Ser217Phe)
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg) rs1856141438
NM_024649.5(BBS1):c.686T>C (p.Leu229Pro)
NM_024649.5(BBS1):c.718G>T (p.Ala240Ser)
NM_024649.5(BBS1):c.723+14C>G
NM_024649.5(BBS1):c.724-5T>A rs2134784385
NM_024649.5(BBS1):c.729C>A (p.Ser243Arg) rs1180861221
NM_024649.5(BBS1):c.731T>C (p.Leu244Pro) rs2134784436
NM_024649.5(BBS1):c.739G>C (p.Val247Leu)
NM_024649.5(BBS1):c.768G>C (p.Gln256His)
NM_024649.5(BBS1):c.771T>G (p.Phe257Leu) rs367686869
NM_024649.5(BBS1):c.77C>T (p.Ala26Val) rs866558676
NM_024649.5(BBS1):c.785G>A (p.Arg262Gln)
NM_024649.5(BBS1):c.793G>A (p.Ala265Thr)
NM_024649.5(BBS1):c.794C>T (p.Ala265Val)
NM_024649.5(BBS1):c.7G>T (p.Ala3Ser)
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.831-3C>T
NM_024649.5(BBS1):c.83A>G (p.Tyr28Cys) rs1263024783
NM_024649.5(BBS1):c.886A>G (p.Ile296Val)
NM_024649.5(BBS1):c.889C>T (p.Arg297Trp)
NM_024649.5(BBS1):c.907G>C (p.Val303Leu) rs2134795278
NM_024649.5(BBS1):c.910G>T (p.Val304Leu) rs1228755309
NM_024649.5(BBS1):c.938G>A (p.Gly313Asp) rs1280115378
NM_024649.5(BBS1):c.93G>C (p.Met31Ile)
NM_024649.5(BBS1):c.951+3G>A rs1590766778
NM_024649.5(BBS1):c.952-8C>G rs1856353251
NM_024649.5(BBS1):c.971T>C (p.Val324Ala)
NM_024649.5(BBS1):c.982G>A (p.Ala328Thr)
NM_024649.5(BBS1):c.999G>A (p.Met333Ile) rs1856357942
NM_024649.5(BBS1):c.999G>T (p.Met333Ile) rs1856357942
NM_024685.4(BBS10):c.*1189dup rs886049840
NM_024685.4(BBS10):c.*1241_*1244del rs886049838
NM_024685.4(BBS10):c.*641AT[2] rs886049845
NM_024685.4(BBS10):c.1009_1010inv (p.Glu337Ser)
NM_024685.4(BBS10):c.1010A>G (p.Glu337Gly) rs752630373
NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr) rs1951764046
NM_024685.4(BBS10):c.1027C>T (p.Arg343Trp)
NM_024685.4(BBS10):c.1032G>T (p.Arg344Ser)
NM_024685.4(BBS10):c.1036A>G (p.Ile346Val)
NM_024685.4(BBS10):c.1048C>A (p.Pro350Thr)
NM_024685.4(BBS10):c.1054G>A (p.Val352Ile) rs779201114
NM_024685.4(BBS10):c.106G>T (p.Val36Phe) rs896544129
NM_024685.4(BBS10):c.1072T>C (p.Ser358Pro)
NM_024685.4(BBS10):c.1081G>A (p.Glu361Lys) rs1565809819
NM_024685.4(BBS10):c.1112G>C (p.Cys371Ser) rs1951763406
NM_024685.4(BBS10):c.1133C>T (p.Ser378Phe) rs1951763168
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu) rs775492103
NM_024685.4(BBS10):c.1145T>G (p.Val382Gly) rs2136090562
NM_024685.4(BBS10):c.1158G>C (p.Leu386Phe)
NM_024685.4(BBS10):c.1160T>C (p.Ile387Thr)
NM_024685.4(BBS10):c.1185C>G (p.His395Gln) rs863224793
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.1192G>A (p.Val398Ile)
NM_024685.4(BBS10):c.1195C>A (p.Leu399Ile)
NM_024685.4(BBS10):c.1201G>A (p.Gly401Arg)
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr) rs1951762170
NM_024685.4(BBS10):c.1235A>T (p.Asp412Val)
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.1258A>C (p.Met420Leu) rs1951761840
NM_024685.4(BBS10):c.1277A>G (p.Lys426Arg)
NM_024685.4(BBS10):c.1280A>G (p.Asp427Gly)
NM_024685.4(BBS10):c.1297A>T (p.Met433Leu) rs987403283
NM_024685.4(BBS10):c.1325C>G (p.Thr442Ser)
NM_024685.4(BBS10):c.1336T>C (p.Phe446Leu)
NM_024685.4(BBS10):c.1349A>G (p.Asn450Ser)
NM_024685.4(BBS10):c.136C>T (p.Leu46Phe) rs1951778317
NM_024685.4(BBS10):c.13A>G (p.Met5Val)
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys) rs1022090476
NM_024685.4(BBS10):c.1401G>C (p.Arg467Ser)
NM_024685.4(BBS10):c.1440G>C (p.Leu480Phe)
NM_024685.4(BBS10):c.1442A>G (p.Glu481Gly)
NM_024685.4(BBS10):c.1483A>C (p.Ile495Leu)
NM_024685.4(BBS10):c.1490A>G (p.Asp497Gly)
NM_024685.4(BBS10):c.1505C>A (p.Thr502Lys)
NM_024685.4(BBS10):c.1522A>G (p.Thr508Ala)
NM_024685.4(BBS10):c.1525C>T (p.Pro509Ser)
NM_024685.4(BBS10):c.1535C>T (p.Thr512Ile)
NM_024685.4(BBS10):c.1540A>G (p.Thr514Ala)
NM_024685.4(BBS10):c.155G>A (p.Gly52Asp)
NM_024685.4(BBS10):c.1589G>A (p.Arg530Lys)
NM_024685.4(BBS10):c.158G>C (p.Arg53Pro)
NM_024685.4(BBS10):c.1592A>G (p.Asn531Ser) rs2136090095
NM_024685.4(BBS10):c.1596G>C (p.Arg532Ser)
NM_024685.4(BBS10):c.1604A>T (p.Asp535Val) rs1951758028
NM_024685.4(BBS10):c.1606T>C (p.Tyr536His) rs2136090060
NM_024685.4(BBS10):c.1606T>G (p.Tyr536Asp)
NM_024685.4(BBS10):c.1634C>G (p.Ser545Cys)
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp) rs770880993
NM_024685.4(BBS10):c.1664T>C (p.Ile555Thr)
NM_024685.4(BBS10):c.1667A>G (p.Glu556Gly)
NM_024685.4(BBS10):c.166G>C (p.Glu56Gln)
NM_024685.4(BBS10):c.1673_1675del (p.Ser558del)
NM_024685.4(BBS10):c.1684T>G (p.Leu562Val)
NM_024685.4(BBS10):c.1696A>C (p.Asn566His) rs144402299
NM_024685.4(BBS10):c.1724C>T (p.Pro575Leu)
NM_024685.4(BBS10):c.1747A>G (p.Met583Val) rs2136089937
NM_024685.4(BBS10):c.1780A>G (p.Met594Val) rs1951756219
NM_024685.4(BBS10):c.1790G>T (p.Gly597Val) rs1264836197
NM_024685.4(BBS10):c.1799T>C (p.Leu600Ser)
NM_024685.4(BBS10):c.1802C>T (p.Pro601Leu)
NM_024685.4(BBS10):c.1807G>T (p.Gly603Cys)
NM_024685.4(BBS10):c.1811G>C (p.Gly604Ala) rs1951755940
NM_024685.4(BBS10):c.1826T>C (p.Leu609Ser)
NM_024685.4(BBS10):c.1850A>G (p.Tyr617Cys) rs749876979
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg) rs1951755649
NM_024685.4(BBS10):c.1871C>T (p.Ser624Leu) rs768385647
NM_024685.4(BBS10):c.187C>A (p.Pro63Thr) rs371540031
NM_024685.4(BBS10):c.187C>G (p.Pro63Ala)
NM_024685.4(BBS10):c.188C>T (p.Pro63Leu) rs2136091508
NM_024685.4(BBS10):c.1891A>G (p.Met631Val)
NM_024685.4(BBS10):c.1896A>G (p.Ile632Met)
NM_024685.4(BBS10):c.1901C>G (p.Ala634Gly) rs12099880
NM_024685.4(BBS10):c.1907C>T (p.Ala636Val) rs113224628
NM_024685.4(BBS10):c.1909C>A (p.Leu637Ile) rs777954013
NM_024685.4(BBS10):c.1909C>G (p.Leu637Val) rs777954013
NM_024685.4(BBS10):c.1915G>A (p.Gly639Ser)
NM_024685.4(BBS10):c.1925A>G (p.Lys642Arg)
NM_024685.4(BBS10):c.1930C>T (p.Leu644Phe)
NM_024685.4(BBS10):c.1964C>T (p.Pro655Leu)
NM_024685.4(BBS10):c.1973A>G (p.Tyr658Cys) rs886049848
NM_024685.4(BBS10):c.1975A>G (p.Ile659Val)
NM_024685.4(BBS10):c.1980A>T (p.Arg660Ser)
NM_024685.4(BBS10):c.199A>G (p.Met67Val)
NM_024685.4(BBS10):c.2002A>G (p.Asn668Asp)
NM_024685.4(BBS10):c.2039C>T (p.Ser680Leu)
NM_024685.4(BBS10):c.203T>C (p.Ile68Thr) rs750428156
NM_024685.4(BBS10):c.2057A>G (p.Gln686Arg)
NM_024685.4(BBS10):c.2091A>C (p.Lys697Asn) rs1565809262
NM_024685.4(BBS10):c.2095T>G (p.Leu699Val)
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly) rs529208223
NM_024685.4(BBS10):c.2107A>G (p.Met703Val)
NM_024685.4(BBS10):c.2144A>C (p.His715Pro)
NM_024685.4(BBS10):c.2146A>C (p.Asn716His) rs1951753000
NM_024685.4(BBS10):c.2167C>G (p.Leu723Val) rs1003705267
NM_024685.4(BBS10):c.221G>T (p.Ser74Ile)
NM_024685.4(BBS10):c.22G>T (p.Ala8Ser)
NM_024685.4(BBS10):c.23C>G (p.Ala8Gly) rs1216242140
NM_024685.4(BBS10):c.268C>G (p.Leu90Val)
NM_024685.4(BBS10):c.284G>C (p.Arg95Thr)
NM_024685.4(BBS10):c.2T>C (p.Met1Thr) rs1382481529
NM_024685.4(BBS10):c.2_5del (p.Met1fs)
NM_024685.4(BBS10):c.301A>G (p.Thr101Ala)
NM_024685.4(BBS10):c.317A>C (p.Asp106Ala)
NM_024685.4(BBS10):c.326T>C (p.Met109Thr) rs2136091232
NM_024685.4(BBS10):c.329G>A (p.Cys110Tyr) rs2136091229
NM_024685.4(BBS10):c.340C>G (p.Gln114Glu)
NM_024685.4(BBS10):c.350G>A (p.Gly117Glu) rs1951771611
NM_024685.4(BBS10):c.350G>C (p.Gly117Ala) rs1951771611
NM_024685.4(BBS10):c.358T>C (p.Trp120Arg)
NM_024685.4(BBS10):c.368G>A (p.Cys123Tyr) rs2136091207
NM_024685.4(BBS10):c.373C>T (p.Arg125Trp)
NM_024685.4(BBS10):c.383T>C (p.Phe128Ser) rs1592492746
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe) rs750446869
NM_024685.4(BBS10):c.406T>C (p.Phe136Leu) rs769181256
NM_024685.4(BBS10):c.450T>G (p.Ser150Arg) rs573346325
NM_024685.4(BBS10):c.455A>G (p.His152Arg)
NM_024685.4(BBS10):c.473C>G (p.Ser158Trp)
NM_024685.4(BBS10):c.481A>G (p.Lys161Glu)
NM_024685.4(BBS10):c.490A>C (p.Thr164Pro)
NM_024685.4(BBS10):c.501G>C (p.Arg167Ser)
NM_024685.4(BBS10):c.504C>G (p.Ser168Arg)
NM_024685.4(BBS10):c.524_526del (p.Glu175del) rs2136091044
NM_024685.4(BBS10):c.544G>C (p.Val182Leu) rs890996897
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln) rs1001512051
NM_024685.4(BBS10):c.563A>T (p.Lys188Ile) rs1239540905
NM_024685.4(BBS10):c.572C>T (p.Ser191Leu) rs1951767969
NM_024685.4(BBS10):c.575A>C (p.Gln192Pro)
NM_024685.4(BBS10):c.59T>C (p.Val20Ala)
NM_024685.4(BBS10):c.625G>T (p.Gly209Cys) rs1396355979
NM_024685.4(BBS10):c.62T>C (p.Leu21Pro)
NM_024685.4(BBS10):c.647A>C (p.Asp216Ala)
NM_024685.4(BBS10):c.648C>A (p.Asp216Glu)
NM_024685.4(BBS10):c.650A>G (p.His217Arg)
NM_024685.4(BBS10):c.655G>A (p.Val219Ile)
NM_024685.4(BBS10):c.655G>T (p.Val219Leu)
NM_024685.4(BBS10):c.671G>C (p.Gly224Ala)
NM_024685.4(BBS10):c.685C>A (p.Pro229Thr)
NM_024685.4(BBS10):c.700A>G (p.Arg234Gly)
NM_024685.4(BBS10):c.706A>T (p.Ile236Leu)
NM_024685.4(BBS10):c.708A>G (p.Ile236Met) rs1193290653
NM_024685.4(BBS10):c.733T>G (p.Phe245Val)
NM_024685.4(BBS10):c.745C>T (p.Arg249Cys) rs1242888821
NM_024685.4(BBS10):c.752C>A (p.Ala251Glu)
NM_024685.4(BBS10):c.767G>T (p.Arg256Leu)
NM_024685.4(BBS10):c.791T>G (p.Ile264Ser) rs1236502453
NM_024685.4(BBS10):c.796C>G (p.Pro266Ala)
NM_024685.4(BBS10):c.797C>T (p.Pro266Leu)
NM_024685.4(BBS10):c.800T>A (p.Leu267His) rs1592492358
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala) rs781723681
NM_024685.4(BBS10):c.83G>C (p.Cys28Ser)
NM_024685.4(BBS10):c.864_872del (p.Phe288_Met291delinsLeu)
NM_024685.4(BBS10):c.881C>T (p.Thr294Ile)
NM_024685.4(BBS10):c.901C>G (p.Leu301Val) rs1555202666
NM_024685.4(BBS10):c.904C>T (p.His302Tyr) rs954562822
NM_024685.4(BBS10):c.91C>T (p.Pro31Ser)
NM_024685.4(BBS10):c.925C>T (p.Leu309Phe) rs2136090757
NM_024685.4(BBS10):c.92C>T (p.Pro31Leu) rs1486182131
NM_024685.4(BBS10):c.932C>T (p.Ser311Phe) rs1951764875
NM_024685.4(BBS10):c.946C>G (p.Pro316Ala) rs2136090741
NM_024685.4(BBS10):c.94G>A (p.Glu32Lys) rs1208975003
NM_024685.4(BBS10):c.967G>T (p.Ala323Ser)
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg) rs750665609
NM_025114.4(CEP290):c.*139TAAA[1] rs886049876
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_031885.5(BBS2):c.1006G>A (p.Asp336Asn)
NM_031885.5(BBS2):c.1033A>C (p.Lys345Gln)
NM_031885.5(BBS2):c.1064A>T (p.Tyr355Phe) rs1477561197
NM_031885.5(BBS2):c.1081-16G>A
NM_031885.5(BBS2):c.109A>G (p.Thr37Ala) rs1284353332
NM_031885.5(BBS2):c.1108G>A (p.Ala370Thr) rs1597015825
NM_031885.5(BBS2):c.1112A>T (p.Asp371Val) rs1366351316
NM_031885.5(BBS2):c.1118A>G (p.His373Arg) rs886052146
NM_031885.5(BBS2):c.1121G>A (p.Arg374Gln)
NM_031885.5(BBS2):c.113G>A (p.Gly38Asp) rs748872389
NM_031885.5(BBS2):c.1142C>T (p.Thr381Ile)
NM_031885.5(BBS2):c.1150C>A (p.His384Asn) rs2144145489
NM_031885.5(BBS2):c.117+6C>G
NM_031885.5(BBS2):c.118-16_118-13del rs758674101
NM_031885.5(BBS2):c.118-6T>A rs2144193881
NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile) rs368138622
NM_031885.5(BBS2):c.1193C>G (p.Ala398Gly)
NM_031885.5(BBS2):c.119T>G (p.Val40Gly) rs1964683448
NM_031885.5(BBS2):c.1208G>A (p.Arg403His)
NM_031885.5(BBS2):c.1208G>C (p.Arg403Pro) rs192007013
NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu) rs192007013
NM_031885.5(BBS2):c.1225+6A>G rs2144145043
NM_031885.5(BBS2):c.1264A>G (p.Ile422Val) rs1964254046
NM_031885.5(BBS2):c.1307A>G (p.Asn436Ser) rs1964252649
NM_031885.5(BBS2):c.1309C>G (p.Leu437Val)
NM_031885.5(BBS2):c.1316G>T (p.Ser439Ile)
NM_031885.5(BBS2):c.133C>A (p.Pro45Thr) rs2144193766
NM_031885.5(BBS2):c.1345A>G (p.Lys449Glu) rs1964251202
NM_031885.5(BBS2):c.1392A>C (p.Arg464Ser)
NM_031885.5(BBS2):c.1397+6_1397+10delinsTAAAG
NM_031885.5(BBS2):c.1421C>T (p.Ser474Leu)
NM_031885.5(BBS2):c.1447A>G (p.Met483Val) rs748721721
NM_031885.5(BBS2):c.1448T>C (p.Met483Thr)
NM_031885.5(BBS2):c.1454C>G (p.Ala485Gly)
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val) rs376115616
NM_031885.5(BBS2):c.1469A>G (p.Asp490Gly) rs1964211173
NM_031885.5(BBS2):c.1492T>A (p.Tyr498Asn) rs1261310336
NM_031885.5(BBS2):c.1514A>G (p.Glu505Gly)
NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln) rs1278932190
NM_031885.5(BBS2):c.1527+3_1527+6del rs1964208752
NM_031885.5(BBS2):c.1534G>T (p.Val512Leu)
NM_031885.5(BBS2):c.1540C>T (p.Leu514Phe)
NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys) rs181107019
NM_031885.5(BBS2):c.155T>A (p.Val52Asp) rs2144193671
NM_031885.5(BBS2):c.1583A>G (p.Asn528Ser) rs2144134843
NM_031885.5(BBS2):c.1585G>A (p.Ala529Thr) rs1964175201
NM_031885.5(BBS2):c.1591T>A (p.Phe531Ile)
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys) rs556899786
NM_031885.5(BBS2):c.1634A>C (p.His545Pro) rs1461988620
NM_031885.5(BBS2):c.1649T>C (p.Leu550Pro) rs2144134545
NM_031885.5(BBS2):c.1652G>C (p.Ser551Thr) rs1442649485
NM_031885.5(BBS2):c.1675G>A (p.Asp559Asn)
NM_031885.5(BBS2):c.1682T>C (p.Ile561Thr)
NM_031885.5(BBS2):c.1690G>A (p.Ala564Thr) rs780747680
NM_031885.5(BBS2):c.1744G>A (p.Val582Ile) rs2144132540
NM_031885.5(BBS2):c.1750G>A (p.Ala584Thr)
NM_031885.5(BBS2):c.1751C>T (p.Ala584Val)
NM_031885.5(BBS2):c.1786G>C (p.Val596Leu)
NM_031885.5(BBS2):c.1791A>T (p.Leu597=)
NM_031885.5(BBS2):c.1798-16T>C
NM_031885.5(BBS2):c.1810C>T (p.His604Tyr)
NM_031885.5(BBS2):c.1816G>T (p.Val606Leu) rs930659537
NM_031885.5(BBS2):c.1840A>G (p.Met614Val)
NM_031885.5(BBS2):c.1841T>C (p.Met614Thr)
NM_031885.5(BBS2):c.1847A>T (p.Asp616Val)
NM_031885.5(BBS2):c.1849C>T (p.His617Tyr) rs2144130068
NM_031885.5(BBS2):c.1865G>A (p.Arg622Gln)
NM_031885.5(BBS2):c.1895G>A (p.Arg632His) rs138043021
NM_031885.5(BBS2):c.1902G>C (p.Met634Ile)
NM_031885.5(BBS2):c.1919T>C (p.Met640Thr)
NM_031885.5(BBS2):c.1924A>C (p.Ser642Arg)
NM_031885.5(BBS2):c.1943A>G (p.Tyr648Cys)
NM_031885.5(BBS2):c.1957G>C (p.Asp653His)
NM_031885.5(BBS2):c.1964T>C (p.Leu655Pro) rs2144095663
NM_031885.5(BBS2):c.1973A>T (p.Tyr658Phe) rs753656568
NM_031885.5(BBS2):c.1981C>G (p.Arg661Gly)
NM_031885.5(BBS2):c.2006T>G (p.Leu669Trp) rs2144095498
NM_031885.5(BBS2):c.2013C>A (p.Asn671Lys) rs1963755306
NM_031885.5(BBS2):c.2033C>T (p.Ala678Val) rs1191917991
NM_031885.5(BBS2):c.2044G>A (p.Ala682Thr) rs777000749
NM_031885.5(BBS2):c.2051G>A (p.Arg684His) rs138913160
NM_031885.5(BBS2):c.2059G>C (p.Val687Leu) rs754067097
NM_031885.5(BBS2):c.2060-5T>G rs374531370
NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr) rs1426683547
NM_031885.5(BBS2):c.2101G>C (p.Ala701Pro) rs2144093137
NM_031885.5(BBS2):c.2108G>A (p.Arg703Gln) rs1963728958
NM_031885.5(BBS2):c.2108G>T (p.Arg703Leu)
NM_031885.5(BBS2):c.2117A>T (p.Asn706Ile)
NM_031885.5(BBS2):c.2129T>C (p.Leu710Pro) rs1963728191
NM_031885.5(BBS2):c.227G>C (p.Ser76Thr) rs895169510
NM_031885.5(BBS2):c.235A>C (p.Thr79Pro) rs1387025330
NM_031885.5(BBS2):c.239C>T (p.Ala80Val) rs1964679008
NM_031885.5(BBS2):c.259C>T (p.Leu87Phe)
NM_031885.5(BBS2):c.265T>C (p.Tyr89His)
NM_031885.5(BBS2):c.268G>A (p.Asp90Asn)
NM_031885.5(BBS2):c.272C>A (p.Ala91Asp) rs2144193029
NM_031885.5(BBS2):c.326C>T (p.Ser109Leu)
NM_031885.5(BBS2):c.345+4A>C
NM_031885.5(BBS2):c.345+4A>G
NM_031885.5(BBS2):c.35A>G (p.His12Arg) rs1238233777
NM_031885.5(BBS2):c.365C>G (p.Ala122Gly) rs17856449
NM_031885.5(BBS2):c.374T>C (p.Leu125Pro) rs2144181949
NM_031885.5(BBS2):c.383T>C (p.Leu128Ser)
NM_031885.5(BBS2):c.407C>A (p.Ala136Glu)
NM_031885.5(BBS2):c.407C>G (p.Ala136Gly) rs373166163
NM_031885.5(BBS2):c.428C>T (p.Ala143Val) rs2144181662
NM_031885.5(BBS2):c.451G>A (p.Gly151Arg)
NM_031885.5(BBS2):c.466T>G (p.Trp156Gly)
NM_031885.5(BBS2):c.471+3A>G rs1964565857
NM_031885.5(BBS2):c.471+3_471+4delinsCA rs1567582876
NM_031885.5(BBS2):c.482A>G (p.Asp161Gly) rs755150651
NM_031885.5(BBS2):c.484_495del (p.Asn162_Ser165del) rs2144180368
NM_031885.5(BBS2):c.485A>G (p.Asn162Ser) rs749148042
NM_031885.5(BBS2):c.492T>G (p.Asn164Lys) rs779800067
NM_031885.5(BBS2):c.49C>G (p.Arg17Gly)
NM_031885.5(BBS2):c.4C>A (p.Leu2Met) rs2144214806
NM_031885.5(BBS2):c.503T>C (p.Leu168Ser)
NM_031885.5(BBS2):c.505T>C (p.Cys169Arg)
NM_031885.5(BBS2):c.534+5G>T
NM_031885.5(BBS2):c.535-15A>T
NM_031885.5(BBS2):c.535-19T>C
NM_031885.5(BBS2):c.535-27_535-3del rs751101598
NM_031885.5(BBS2):c.535-4_535-3insA
NM_031885.5(BBS2):c.544G>C (p.Gly182Arg) rs1964532476
NM_031885.5(BBS2):c.552G>C (p.Glu184Asp) rs1423768973
NM_031885.5(BBS2):c.55G>A (p.Val19Met) rs1158566793
NM_031885.5(BBS2):c.55G>C (p.Val19Leu)
NM_031885.5(BBS2):c.566G>A (p.Arg189Gln)
NM_031885.5(BBS2):c.620C>T (p.Thr207Ile)
NM_031885.5(BBS2):c.636G>A (p.Met212Ile) rs1461732222
NM_031885.5(BBS2):c.651T>G (p.Phe217Leu) rs2144163118
NM_031885.5(BBS2):c.661C>T (p.Leu221Phe) rs2144163050
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_031885.5(BBS2):c.668A>G (p.Asn223Ser)
NM_031885.5(BBS2):c.674C>G (p.Thr225Arg)
NM_031885.5(BBS2):c.685T>G (p.Tyr229Asp) rs778543585
NM_031885.5(BBS2):c.68G>C (p.Arg23Pro) rs1162842645
NM_031885.5(BBS2):c.68G>T (p.Arg23Leu) rs1162842645
NM_031885.5(BBS2):c.701G>A (p.Arg234Gln)
NM_031885.5(BBS2):c.706T>C (p.Trp236Arg) rs2144162792
NM_031885.5(BBS2):c.710G>A (p.Arg237Lys)
NM_031885.5(BBS2):c.719C>T (p.Ser240Leu)
NM_031885.5(BBS2):c.764A>C (p.Asp255Ala) rs1436713218
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.5(BBS2):c.770T>A (p.Val257Glu)
NM_031885.5(BBS2):c.806T>C (p.Val269Ala) rs886039797
NM_031885.5(BBS2):c.812C>T (p.Ala271Val)
NM_031885.5(BBS2):c.815G>A (p.Arg272Gln)
NM_031885.5(BBS2):c.838A>G (p.Ile280Val)
NM_031885.5(BBS2):c.871G>A (p.Gly291Ser)
NM_031885.5(BBS2):c.878T>C (p.Val293Ala)
NM_031885.5(BBS2):c.892C>T (p.Arg298Trp)
NM_031885.5(BBS2):c.897G>C (p.Met299Ile) rs759147772
NM_031885.5(BBS2):c.898G>T (p.Asp300Tyr)
NM_031885.5(BBS2):c.8T>A (p.Leu3Gln) rs1964870972
NM_031885.5(BBS2):c.8T>C (p.Leu3Pro) rs1964870972
NM_031885.5(BBS2):c.913T>G (p.Leu305Val) rs1964310691
NM_031885.5(BBS2):c.916A>G (p.Ile306Val) rs1964310396
NM_031885.5(BBS2):c.940+3A>C rs2144150079
NM_031885.5(BBS2):c.946G>T (p.Gly316Cys)
NM_031885.5(BBS2):c.962C>A (p.Thr321Lys) rs758548498
NM_031885.5(BBS2):c.974G>A (p.Arg325Lys) rs1964301074
NM_031885.5(BBS2):c.983T>A (p.Leu328His) rs753806664
NM_031885.5(BBS2):c.983T>C (p.Leu328Pro)
NM_031885.5(BBS2):c.992C>A (p.Thr331Asn)
NM_031885.5(BBS2):c.992C>G (p.Thr331Ser) rs2144148951
NM_031885.5(BBS2):c.992C>T (p.Thr331Ile)
NM_031885.5(BBS2):c.994A>G (p.Ser332Gly) rs576081735
NM_033028.5(BBS4):c.*1_*2delGA
NM_033028.5(BBS4):c.*1_*3delGAA
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val) rs750983167
NM_033028.5(BBS4):c.1027C>A (p.Leu343Ile) rs758032659
NM_033028.5(BBS4):c.1032G>C (p.Leu344Phe)
NM_033028.5(BBS4):c.1039G>A (p.Ala347Thr)
NM_033028.5(BBS4):c.1063G>C (p.Glu355Gln) rs1478448702
NM_033028.5(BBS4):c.1076G>C (p.Arg359Thr) rs367767132
NM_033028.5(BBS4):c.10G>A (p.Glu4Lys) rs1336636537
NM_033028.5(BBS4):c.10G>C (p.Glu4Gln)
NM_033028.5(BBS4):c.1107-10_1107-7del rs770577174
NM_033028.5(BBS4):c.1133A>G (p.Tyr378Cys) rs766266805
NM_033028.5(BBS4):c.1159G>A (p.Glu387Lys)
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del) rs759315856
NM_033028.5(BBS4):c.1166A>G (p.Lys389Arg)
NM_033028.5(BBS4):c.116T>C (p.Ile39Thr)
NM_033028.5(BBS4):c.1183T>C (p.Tyr395His)
NM_033028.5(BBS4):c.1197GAA[1] (p.Lys401del) rs1414925501
NM_033028.5(BBS4):c.1200G>C (p.Lys400Asn) rs1295583634
NM_033028.5(BBS4):c.1226G>T (p.Ser409Ile)
NM_033028.5(BBS4):c.1248+4T>C rs2065914727
NM_033028.5(BBS4):c.1248G>A (p.Glu416=) rs914591602
NM_033028.5(BBS4):c.1287G>T (p.Gln429His)
NM_033028.5(BBS4):c.1289T>G (p.Val430Gly) rs767070801
NM_033028.5(BBS4):c.1294del (p.Glu432fs) rs912967826
NM_033028.5(BBS4):c.1306T>G (p.Trp436Gly) rs2151057022
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly) rs753145823
NM_033028.5(BBS4):c.133C>T (p.Arg45Trp)
NM_033028.5(BBS4):c.1340A>C (p.His447Pro) rs1419223053
NM_033028.5(BBS4):c.1369A>G (p.Ser457Gly) rs773209808
NM_033028.5(BBS4):c.1388G>C (p.Gly463Ala)
NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro) rs776847398
NM_033028.5(BBS4):c.1405G>C (p.Gly469Arg)
NM_033028.5(BBS4):c.1409A>T (p.Gln470Leu) rs2065937102
NM_033028.5(BBS4):c.1414A>C (p.Met472Leu) rs2277596
NM_033028.5(BBS4):c.1450+2_1450+5del rs1287237832
NM_033028.5(BBS4):c.1450G>A (p.Gly484Ser) rs2065938048
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_033028.5(BBS4):c.1456G>A (p.Gly486Arg)
NM_033028.5(BBS4):c.1459G>C (p.Gly487Arg) rs2151058260
NM_033028.5(BBS4):c.1468C>T (p.Gln490Ter)
NM_033028.5(BBS4):c.1483C>T (p.Pro495Ser)
NM_033028.5(BBS4):c.1493del (p.Pro498fs) rs777455492
NM_033028.5(BBS4):c.1506G>T (p.Glu502Asp)
NM_033028.5(BBS4):c.1510G>A (p.Ala504Thr)
NM_033028.5(BBS4):c.1517A>T (p.Glu506Val) rs1278438729
NM_033028.5(BBS4):c.1541A>G (p.Glu514Gly) rs2065950720
NM_033028.5(BBS4):c.1549_1551del (p.Arg517del)
NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs) rs1463405501
NM_033028.5(BBS4):c.156+4A>G
NM_033028.5(BBS4):c.157-20C>T rs2151019478
NM_033028.5(BBS4):c.16G>A (p.Val6Ile)
NM_033028.5(BBS4):c.19G>A (p.Ala7Thr) rs2064831111
NM_033028.5(BBS4):c.19G>C (p.Ala7Pro) rs2064831111
NM_033028.5(BBS4):c.20C>G (p.Ala7Gly)
NM_033028.5(BBS4):c.220+3A>G
NM_033028.5(BBS4):c.220+3A>T rs376143305
NM_033028.5(BBS4):c.226A>G (p.Ile76Val)
NM_033028.5(BBS4):c.240A>C (p.Glu80Asp) rs745338483
NM_033028.5(BBS4):c.248T>G (p.Ile83Ser) rs1567415169
NM_033028.5(BBS4):c.252A>T (p.Gln84His) rs2065448650
NM_033028.5(BBS4):c.255A>C (p.Glu85Asp)
NM_033028.5(BBS4):c.276A>G (p.Thr92=) rs2151023356
NM_033028.5(BBS4):c.317A>G (p.Gln106Arg) rs139038321
NM_033028.5(BBS4):c.327A>T (p.Arg109Ser)
NM_033028.5(BBS4):c.332+2dup rs753360929
NM_033028.5(BBS4):c.333-13A>G
NM_033028.5(BBS4):c.349C>T (p.His117Tyr) rs765399591
NM_033028.5(BBS4):c.385A>G (p.Lys129Glu)
NM_033028.5(BBS4):c.403T>A (p.Trp135Arg) rs768304898
NM_033028.5(BBS4):c.428T>A (p.Val143Asp) rs2065601390
NM_033028.5(BBS4):c.434A>G (p.Tyr145Cys)
NM_033028.5(BBS4):c.435C>T (p.Tyr145=)
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn) rs781691906
NM_033028.5(BBS4):c.443T>A (p.Leu148Gln)
NM_033028.5(BBS4):c.463C>A (p.Gln155Lys) rs147391634
NM_033028.5(BBS4):c.502G>A (p.Asp168Asn) rs769766779
NM_033028.5(BBS4):c.502G>T (p.Asp168Tyr)
NM_033028.5(BBS4):c.530T>G (p.Ile177Ser) rs1341828921
NM_033028.5(BBS4):c.548A>G (p.Asp183Gly) rs751216768
NM_033028.5(BBS4):c.562A>G (p.Ile188Val) rs2151034404
NM_033028.5(BBS4):c.566A>T (p.Glu189Val)
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys) rs756915341
NM_033028.5(BBS4):c.596C>T (p.Pro199Leu)
NM_033028.5(BBS4):c.617C>A (p.Thr206Lys)
NM_033028.5(BBS4):c.619A>G (p.Thr207Ala) rs558382374
NM_033028.5(BBS4):c.629T>C (p.Leu210Ser)
NM_033028.5(BBS4):c.631C>T (p.Leu211Phe) rs1567426035
NM_033028.5(BBS4):c.683C>T (p.Ala228Val) rs2151043996
NM_033028.5(BBS4):c.701C>A (p.Thr234Asn) rs2151044050
NM_033028.5(BBS4):c.740A>G (p.Gln247Arg) rs746471801
NM_033028.5(BBS4):c.770C>G (p.Thr257Ser)
NM_033028.5(BBS4):c.775T>A (p.Tyr259Asn)
NM_033028.5(BBS4):c.776A>T (p.Tyr259Phe) rs146595193
NM_033028.5(BBS4):c.77C>T (p.Ala26Val) rs2151016128
NM_033028.5(BBS4):c.797T>G (p.Val266Gly)
NM_033028.5(BBS4):c.821A>G (p.Asn274Ser)
NM_033028.5(BBS4):c.85T>G (p.Phe29Val)
NM_033028.5(BBS4):c.863C>A (p.Ala288Glu)
NM_033028.5(BBS4):c.865-3T>C
NM_033028.5(BBS4):c.906_907inv (p.Asp303Asn)
NM_033028.5(BBS4):c.947C>T (p.Thr316Ile)
NM_033028.5(BBS4):c.956A>G (p.Gln319Arg) rs1595948085
NM_033028.5(BBS4):c.961G>C (p.Ala321Pro)
NM_033028.5(BBS4):c.988G>A (p.Ala330Thr) rs2065827621
NM_033028.5(BBS4):c.991A>G (p.Ile331Val) rs1316841175
NM_033028.5(BBS4):c.991A>T (p.Ile331Phe)
NM_033028.5(BBS4):c.994A>G (p.Asn332Asp) rs2065827783
NM_033028.5(BBS4):c.998T>A (p.Phe333Tyr)
NM_144596.4(TTC8):c.1022A>G (p.Gln341Arg) rs2094927980
NM_144596.4(TTC8):c.1026A>G (p.Pro342=)
NM_144596.4(TTC8):c.1033G>A (p.Ala345Thr)
NM_144596.4(TTC8):c.1039C>T (p.Arg347Trp)
NM_144596.4(TTC8):c.104C>A (p.Pro35His) rs2094691079
NM_144596.4(TTC8):c.1050G>T (p.Arg350Ser) rs2094933981
NM_144596.4(TTC8):c.1069A>G (p.Ile357Val)
NM_144596.4(TTC8):c.1073A>T (p.Tyr358Phe) rs951491897
NM_144596.4(TTC8):c.1084C>G (p.Leu362Val) rs2094934211
NM_144596.4(TTC8):c.1102C>T (p.Leu368=)
NM_144596.4(TTC8):c.1118C>A (p.Ala373Asp) rs768465465
NM_144596.4(TTC8):c.1124A>C (p.Gln375Pro) rs774216735
NM_144596.4(TTC8):c.113A>G (p.Gln38Arg) rs1224545398
NM_144596.4(TTC8):c.114+5C>T
NM_144596.4(TTC8):c.1147T>C (p.Phe383Leu) rs2094934479
NM_144596.4(TTC8):c.114G>T (p.Gln38His) rs2094691170
NM_144596.4(TTC8):c.1154G>A (p.Arg385His)
NM_144596.4(TTC8):c.1185G>C (p.Glu395Asp) rs1375783683
NM_144596.4(TTC8):c.1214A>G (p.His405Arg)
NM_144596.4(TTC8):c.1234G>T (p.Asp412Tyr)
NM_144596.4(TTC8):c.1237A>C (p.Thr413Pro)
NM_144596.4(TTC8):c.1276AAC[3] (p.Asn429del) rs750442302
NM_144596.4(TTC8):c.1276AAC[5] (p.Asn429dup) rs750442302
NM_144596.4(TTC8):c.1277A>G (p.Asn426Ser)
NM_144596.4(TTC8):c.1285A>C (p.Asn429His)
NM_144596.4(TTC8):c.1324A>G (p.Met442Val) rs1259630992
NM_144596.4(TTC8):c.1340T>C (p.Val447Ala)
NM_144596.4(TTC8):c.1360T>G (p.Leu454Val)
NM_144596.4(TTC8):c.1363C>G (p.Gln455Glu) rs773278542
NM_144596.4(TTC8):c.1385C>G (p.Pro462Arg) rs2141044395
NM_144596.4(TTC8):c.1388A>T (p.His463Leu) rs2141044398
NM_144596.4(TTC8):c.1394A>G (p.Tyr465Cys)
NM_144596.4(TTC8):c.1418C>T (p.Thr473Ile) rs762313028
NM_144596.4(TTC8):c.1423T>A (p.Ser475Thr) rs2141044512
NM_144596.4(TTC8):c.1424C>T (p.Ser475Phe)
NM_144596.4(TTC8):c.1431+1G>T rs779743153
NM_144596.4(TTC8):c.1431+3A>G rs2094951653
NM_144596.4(TTC8):c.1432A>T (p.Ile478Phe) rs753441040
NM_144596.4(TTC8):c.1441C>A (p.Leu481Met)
NM_144596.4(TTC8):c.1465C>T (p.Gln489Ter)
NM_144596.4(TTC8):c.1487C>T (p.Pro496Leu)
NM_144596.4(TTC8):c.1495G>A (p.Val499Met) rs538188579
NM_144596.4(TTC8):c.1542G>T (p.Met514Ile) rs571571526
NM_144596.4(TTC8):c.163G>A (p.Ala55Thr)
NM_144596.4(TTC8):c.172C>A (p.Leu58Ile)
NM_144596.4(TTC8):c.183G>A (p.Met61Ile)
NM_144596.4(TTC8):c.192A>G (p.Ile64Met)
NM_144596.4(TTC8):c.193G>A (p.Asp65Asn) rs2094769718
NM_144596.4(TTC8):c.1A>G (p.Met1Val) rs747906724
NM_144596.4(TTC8):c.1A>T (p.Met1Leu)
NM_144596.4(TTC8):c.221T>C (p.Ile74Thr) rs2094769961
NM_144596.4(TTC8):c.224C>A (p.Ala75Glu)
NM_144596.4(TTC8):c.250A>G (p.Ile84Val)
NM_144596.4(TTC8):c.293G>A (p.Gly98Glu) rs1566836961
NM_144596.4(TTC8):c.2T>C (p.Met1Thr) rs776086794
NM_144596.4(TTC8):c.311G>A (p.Gly104Glu)
NM_144596.4(TTC8):c.313C>T (p.Pro105Ser) rs2094777358
NM_144596.4(TTC8):c.329+4T>C
NM_144596.4(TTC8):c.332C>T (p.Pro111Leu) rs2094778322
NM_144596.4(TTC8):c.336C>G (p.Ile112Met) rs2140976682
NM_144596.4(TTC8):c.341A>G (p.Gln114Arg)
NM_144596.4(TTC8):c.34T>G (p.Trp12Gly) rs2140944058
NM_144596.4(TTC8):c.370A>G (p.Arg124Gly)
NM_144596.4(TTC8):c.380C>A (p.Thr127Lys) rs369803125
NM_144596.4(TTC8):c.380C>T (p.Thr127Met) rs369803125
NM_144596.4(TTC8):c.383A>C (p.Gln128Pro) rs2140976838
NM_144596.4(TTC8):c.384G>C (p.Gln128His)
NM_144596.4(TTC8):c.398G>A (p.Gly133Asp)
NM_144596.4(TTC8):c.410A>G (p.Gln137Arg) rs1337021580
NM_144596.4(TTC8):c.415A>C (p.Ile139Leu) rs766062841
NM_144596.4(TTC8):c.418A>G (p.Arg140Gly) rs2140976960
NM_144596.4(TTC8):c.422C>A (p.Thr141Lys)
NM_144596.4(TTC8):c.429A>C (p.Arg143Ser) rs1472731626
NM_144596.4(TTC8):c.430A>C (p.Thr144Pro)
NM_144596.4(TTC8):c.446G>T (p.Arg149Leu) rs768271175
NM_144596.4(TTC8):c.470G>C (p.Arg157Thr) rs754686957
NM_144596.4(TTC8):c.488C>T (p.Thr163Met) rs758942370
NM_144596.4(TTC8):c.490G>A (p.Ala164Thr) rs184952059
NM_144596.4(TTC8):c.506G>A (p.Ser169Asn)
NM_144596.4(TTC8):c.509C>T (p.Pro170Leu) rs1006330985
NM_144596.4(TTC8):c.512A>G (p.Asp171Gly)
NM_144596.4(TTC8):c.514G>A (p.Gly172Arg)
NM_144596.4(TTC8):c.517C>T (p.Pro173Ser) rs2140977797
NM_144596.4(TTC8):c.531A>T (p.Leu177Phe)
NM_144596.4(TTC8):c.573G>C (p.Leu191Phe)
NM_144596.4(TTC8):c.589G>C (p.Glu197Gln)
NM_144596.4(TTC8):c.5G>T (p.Ser2Ile)
NM_144596.4(TTC8):c.602A>G (p.His201Arg) rs1328638709
NM_144596.4(TTC8):c.616G>A (p.Val206Ile)
NM_144596.4(TTC8):c.616_618del (p.Val206del) rs1411331191
NM_144596.4(TTC8):c.62A>G (p.Gln21Arg) rs2094690662
NM_144596.4(TTC8):c.62A>T (p.Gln21Leu) rs2094690662
NM_144596.4(TTC8):c.630G>T (p.Leu210Phe) rs2094839899
NM_144596.4(TTC8):c.659C>T (p.Ser220Phe) rs2094840063
NM_144596.4(TTC8):c.662A>G (p.Gln221Arg)
NM_144596.4(TTC8):c.665A>G (p.Tyr222Cys) rs1257221355
NM_144596.4(TTC8):c.676T>C (p.Trp226Arg) rs2140999509
NM_144596.4(TTC8):c.700T>A (p.Cys234Ser)
NM_144596.4(TTC8):c.704A>G (p.Tyr235Cys) rs1445461942
NM_144596.4(TTC8):c.710+4A>C rs1352481954
NM_144596.4(TTC8):c.714G>A (p.Leu238=) rs1435283670
NM_144596.4(TTC8):c.715G>C (p.Gly239Arg) rs374351698
NM_144596.4(TTC8):c.720G>A (p.Met240Ile) rs1051402043
NM_144596.4(TTC8):c.725G>A (p.Arg242His)
NM_144596.4(TTC8):c.727G>A (p.Glu243Lys) rs1419727328
NM_144596.4(TTC8):c.73G>T (p.Asp25Tyr) rs772967779
NM_144596.4(TTC8):c.747del (p.Lys249fs)
NM_144596.4(TTC8):c.749C>T (p.Ser250Leu) rs943156593
NM_144596.4(TTC8):c.758A>G (p.Lys253Arg)
NM_144596.4(TTC8):c.776A>T (p.Asp259Val) rs2141007421
NM_144596.4(TTC8):c.785T>C (p.Leu262Pro) rs1459496188
NM_144596.4(TTC8):c.785T>G (p.Leu262Arg)
NM_144596.4(TTC8):c.79T>C (p.Cys27Arg) rs2094690812
NM_144596.4(TTC8):c.814G>A (p.Asp272Asn)
NM_144596.4(TTC8):c.816T>A (p.Asp272Glu)
NM_144596.4(TTC8):c.83C>A (p.Thr28Lys) rs1169043172
NM_144596.4(TTC8):c.857A>G (p.Asp286Gly)
NM_144596.4(TTC8):c.865C>T (p.Pro289Ser) rs2141016153
NM_144596.4(TTC8):c.872A>G (p.Glu291Gly)
NM_144596.4(TTC8):c.878C>A (p.Thr293Asn) rs1028407834
NM_144596.4(TTC8):c.890G>A (p.Gly297Glu)
NM_144596.4(TTC8):c.8C>G (p.Ser3Trp) rs752229926
NM_144596.4(TTC8):c.8C>T (p.Ser3Leu) rs752229926
NM_144596.4(TTC8):c.903C>G (p.Ile301Met)
NM_144596.4(TTC8):c.910-6G>A
NM_144596.4(TTC8):c.923T>C (p.Met308Thr) rs2094927396
NM_144596.4(TTC8):c.935C>A (p.Ala312Glu) rs1010519307
NM_144596.4(TTC8):c.943T>G (p.Tyr315Asp) rs2094927520
NM_144596.4(TTC8):c.949G>A (p.Glu317Lys)
NM_144596.4(TTC8):c.964G>A (p.Asp322Asn) rs2094927630
NM_144596.4(TTC8):c.976G>T (p.Val326Leu)
NM_144596.4(TTC8):c.983C>T (p.Ala328Val) rs755533153
NM_152384.3(BBS5):c.1001A>G (p.Gln334Arg) rs2105304403
NM_152384.3(BBS5):c.1003G>C (p.Gly335Arg)
NM_152384.3(BBS5):c.1009T>C (p.Trp337Arg)
NM_152384.3(BBS5):c.106T>A (p.Ser36Thr) rs1683411036
NM_152384.3(BBS5):c.142+3G>T rs2105291754
NM_152384.3(BBS5):c.17C>A (p.Ala6Glu)
NM_152384.3(BBS5):c.17C>T (p.Ala6Val) rs1307558837
NM_152384.3(BBS5):c.208+5G>T rs745646726
NM_152384.3(BBS5):c.209-9G>A
NM_152384.3(BBS5):c.211G>A (p.Val71Ile) rs1397496181
NM_152384.3(BBS5):c.24G>C (p.Trp8Cys)
NM_152384.3(BBS5):c.258+5G>A
NM_152384.3(BBS5):c.25G>A (p.Glu9Lys) rs1363954560
NM_152384.3(BBS5):c.25G>C (p.Glu9Gln) rs1363954560
NM_152384.3(BBS5):c.283C>G (p.Leu95Val)
NM_152384.3(BBS5):c.293T>C (p.Leu98Pro)
NM_152384.3(BBS5):c.313C>T (p.Arg105Cys) rs764755791
NM_152384.3(BBS5):c.347G>A (p.Gly116Glu) rs1683516352
NM_152384.3(BBS5):c.347G>C (p.Gly116Ala) rs1683516352
NM_152384.3(BBS5):c.34G>A (p.Asp12Asn)
NM_152384.3(BBS5):c.353C>G (p.Pro118Arg)
NM_152384.3(BBS5):c.365C>A (p.Thr122Asn)
NM_152384.3(BBS5):c.365C>T (p.Thr122Ile) rs74271896
NM_152384.3(BBS5):c.413G>C (p.Arg138Pro)
NM_152384.3(BBS5):c.428G>A (p.Arg143Lys)
NM_152384.3(BBS5):c.449A>G (p.Lys150Arg) rs1214512447
NM_152384.3(BBS5):c.452A>C (p.Gln151Pro)
NM_152384.3(BBS5):c.479T>C (p.Val160Ala)
NM_152384.3(BBS5):c.47A>T (p.Asp16Val)
NM_152384.3(BBS5):c.522+4T>C rs2105297829
NM_152384.3(BBS5):c.523-10T>C
NM_152384.3(BBS5):c.523-20C>G rs2105298167
NM_152384.3(BBS5):c.536C>T (p.Thr179Ile) rs1272114286
NM_152384.3(BBS5):c.569A>C (p.His190Pro) rs755408078
NM_152384.3(BBS5):c.59+5G>A rs2105290053
NM_152384.3(BBS5):c.598A>G (p.Ser200Gly) rs2105298246
NM_152384.3(BBS5):c.603A>G (p.Ile201Met)
NM_152384.3(BBS5):c.607T>C (p.Tyr203His)
NM_152384.3(BBS5):c.619C>T (p.Arg207Cys)
NM_152384.3(BBS5):c.623C>T (p.Ser208Leu)
NM_152384.3(BBS5):c.649G>A (p.Gly217Ser) rs1427534237
NM_152384.3(BBS5):c.658C>T (p.Leu220Phe)
NM_152384.3(BBS5):c.670A>C (p.Ser224Arg)
NM_152384.3(BBS5):c.674C>G (p.Ser225Cys) rs776533440
NM_152384.3(BBS5):c.682-1G>A
NM_152384.3(BBS5):c.689G>A (p.Gly230Glu) rs1683759336
NM_152384.3(BBS5):c.714T>A (p.Asp238Glu)
NM_152384.3(BBS5):c.740T>G (p.Val247Gly)
NM_152384.3(BBS5):c.748A>C (p.Ile250Leu) rs2105301621
NM_152384.3(BBS5):c.752A>G (p.Asn251Ser) rs779916920
NM_152384.3(BBS5):c.764A>G (p.Lys255Arg) rs2105301646
NM_152384.3(BBS5):c.776C>T (p.Ala259Val) rs1246115410
NM_152384.3(BBS5):c.788T>C (p.Phe263Ser) rs969475017
NM_152384.3(BBS5):c.790G>A (p.Gly264Arg) rs2105301667
NM_152384.3(BBS5):c.799T>G (p.Tyr267Asp)
NM_152384.3(BBS5):c.814A>G (p.Lys272Glu) rs763705177
NM_152384.3(BBS5):c.817-10T>A rs1683838280
NM_152384.3(BBS5):c.839C>A (p.Thr280Lys) rs1683839253
NM_152384.3(BBS5):c.875C>G (p.Ser292Cys) rs2105303568
NM_152384.3(BBS5):c.88C>T (p.Leu30Phe)
NM_152384.3(BBS5):c.890A>T (p.Asp297Val)
NM_152384.3(BBS5):c.896T>C (p.Phe299Ser)
NM_152384.3(BBS5):c.902C>T (p.Ala301Val) rs2105304210
NM_152384.3(BBS5):c.913G>T (p.Asp305Tyr) rs1683861388
NM_152384.3(BBS5):c.925-3A>G rs2105304333
NM_152384.3(BBS5):c.925-4A>G
NM_152384.3(BBS5):c.977_978del (p.Lys326fs) rs2105304387
NM_152618.3(BBS12):c.1001A>G (p.Tyr334Cys) rs1800906037
NM_152618.3(BBS12):c.1007C>A (p.Thr336Asn)
NM_152618.3(BBS12):c.1009G>A (p.Val337Ile) rs1800906327
NM_152618.3(BBS12):c.102ATC[1] (p.Ser36del) rs2150735886
NM_152618.3(BBS12):c.1030C>G (p.Pro344Ala)
NM_152618.3(BBS12):c.1036A>T (p.Ile346Phe)
NM_152618.3(BBS12):c.1042G>A (p.Glu348Lys)
NM_152618.3(BBS12):c.107C>T (p.Ser36Phe)
NM_152618.3(BBS12):c.1095G>T (p.Glu365Asp)
NM_152618.3(BBS12):c.10G>T (p.Ala4Ser)
NM_152618.3(BBS12):c.110A>G (p.Lys37Arg)
NM_152618.3(BBS12):c.1148A>G (p.Asp383Gly) rs1388311562
NM_152618.3(BBS12):c.1155G>A (p.Met385Ile) rs1800911609
NM_152618.3(BBS12):c.1166A>G (p.Glu389Gly) rs374270431
NM_152618.3(BBS12):c.1213A>C (p.Ile405Leu)
NM_152618.3(BBS12):c.1258G>A (p.Glu420Lys)
NM_152618.3(BBS12):c.1261C>T (p.Arg421Cys) rs199596849
NM_152618.3(BBS12):c.1279A>G (p.Ile427Val)
NM_152618.3(BBS12):c.1281A>G (p.Ile427Met)
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp) rs756955366
NM_152618.3(BBS12):c.1303G>T (p.Gly435Cys)
NM_152618.3(BBS12):c.1310T>C (p.Val437Ala) rs2150737136
NM_152618.3(BBS12):c.1343C>T (p.Ala448Val)
NM_152618.3(BBS12):c.1345G>A (p.Ala449Thr) rs767887679
NM_152618.3(BBS12):c.1352C>A (p.Ala451Glu) rs2150737180
NM_152618.3(BBS12):c.1372A>C (p.Thr458Pro)
NM_152618.3(BBS12):c.1382A>G (p.Asn461Ser) rs1800919857
NM_152618.3(BBS12):c.1393G>T (p.Val465Leu) rs1409837279
NM_152618.3(BBS12):c.1405G>A (p.Val469Ile) rs756359668
NM_152618.3(BBS12):c.1411G>T (p.Val471Leu) rs140675688
NM_152618.3(BBS12):c.143T>C (p.Val48Ala) rs1800881705
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) rs772894742
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr) rs145489987
NM_152618.3(BBS12):c.1466C>G (p.Ala489Gly) rs2150737356
NM_152618.3(BBS12):c.1486G>A (p.Gly496Arg)
NM_152618.3(BBS12):c.1487G>C (p.Gly496Ala)
NM_152618.3(BBS12):c.1513A>G (p.Thr505Ala)
NM_152618.3(BBS12):c.1528G>A (p.Ala510Thr)
NM_152618.3(BBS12):c.1549G>A (p.Asp517Asn) rs2150737447
NM_152618.3(BBS12):c.1573C>A (p.Arg525Ser) rs760420127
NM_152618.3(BBS12):c.158C>T (p.Thr53Ile)
NM_152618.3(BBS12):c.1596G>C (p.Glu532Asp) rs1477880509
NM_152618.3(BBS12):c.1604T>C (p.Val535Ala)
NM_152618.3(BBS12):c.1606T>C (p.Phe536Leu)
NM_152618.3(BBS12):c.1652A>T (p.His551Leu) rs1174030927
NM_152618.3(BBS12):c.1653T>G (p.His551Gln) rs1800929267
NM_152618.3(BBS12):c.1658T>C (p.Leu553Pro)
NM_152618.3(BBS12):c.165G>C (p.Arg55Ser)
NM_152618.3(BBS12):c.1673T>A (p.Leu558Gln) rs2150737612
NM_152618.3(BBS12):c.1681_1683del (p.Glu561del) rs1490785954
NM_152618.3(BBS12):c.1687C>G (p.His563Asp)
NM_152618.3(BBS12):c.1696T>C (p.Ser566Pro)
NM_152618.3(BBS12):c.1702T>C (p.Trp568Arg)
NM_152618.3(BBS12):c.1709A>C (p.His570Pro)
NM_152618.3(BBS12):c.1742C>T (p.Ala581Val) rs2150737702
NM_152618.3(BBS12):c.1756A>G (p.Thr586Ala)
NM_152618.3(BBS12):c.1793A>G (p.Tyr598Cys)
NM_152618.3(BBS12):c.1811A>G (p.Tyr604Cys)
NM_152618.3(BBS12):c.1817C>G (p.Thr606Ser)
NM_152618.3(BBS12):c.1840G>C (p.Glu614Gln) rs1800934088
NM_152618.3(BBS12):c.1844C>A (p.Ala615Asp) rs17857451
NM_152618.3(BBS12):c.1853A>G (p.Tyr618Cys)
NM_152618.3(BBS12):c.1855A>G (p.Ile619Val)
NM_152618.3(BBS12):c.1861C>T (p.His621Tyr) rs1800935119
NM_152618.3(BBS12):c.1864C>G (p.His622Asp)
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del) rs758008862
NM_152618.3(BBS12):c.1936A>G (p.Arg646Gly)
NM_152618.3(BBS12):c.1945A>T (p.Asn649Tyr) rs2150737920
NM_152618.3(BBS12):c.1951G>A (p.Asp651Asn)
NM_152618.3(BBS12):c.1966C>A (p.Leu656Met) rs1800940804
NM_152618.3(BBS12):c.1970A>C (p.Glu657Ala) rs1800940912
NM_152618.3(BBS12):c.1993G>A (p.Val665Ile)
NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)
NM_152618.3(BBS12):c.19G>A (p.Val7Ile) rs1464814059
NM_152618.3(BBS12):c.2019G>T (p.Trp673Cys)
NM_152618.3(BBS12):c.2037A>C (p.Leu679Phe) rs1553941612
NM_152618.3(BBS12):c.2037A>T (p.Leu679Phe) rs1553941612
NM_152618.3(BBS12):c.2038_2039delinsAA (p.Val680Lys)
NM_152618.3(BBS12):c.2045T>C (p.Leu682Ser) rs2150738089
NM_152618.3(BBS12):c.2062A>G (p.Ser688Gly) rs1337705311
NM_152618.3(BBS12):c.2096T>A (p.Ile699Lys) rs762266326
NM_152618.3(BBS12):c.2099A>G (p.Asn700Ser) rs1800945725
NM_152618.3(BBS12):c.2117G>A (p.Gly706Asp) rs759180956
NM_152618.3(BBS12):c.2126T>G (p.Phe709Cys)
NM_152618.3(BBS12):c.2132_*1del (p.Ter711Xaa) rs1578492553
NM_152618.3(BBS12):c.227C>T (p.Ala76Val)
NM_152618.3(BBS12):c.22G>A (p.Val8Ile)
NM_152618.3(BBS12):c.241T>C (p.Tyr81His)
NM_152618.3(BBS12):c.259A>G (p.Thr87Ala)
NM_152618.3(BBS12):c.274G>A (p.Val92Ile) rs973844350
NM_152618.3(BBS12):c.277G>A (p.Gly93Ser)
NM_152618.3(BBS12):c.298GAA[1] (p.Glu101del) rs1553941223
NM_152618.3(BBS12):c.29A>G (p.Lys10Arg)
NM_152618.3(BBS12):c.2T>C (p.Met1Thr) rs1553941150
NM_152618.3(BBS12):c.310C>T (p.His104Tyr) rs1472737770
NM_152618.3(BBS12):c.313C>T (p.Leu105Phe)
NM_152618.3(BBS12):c.317G>T (p.Gly106Val)
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del) rs752885483
NM_152618.3(BBS12):c.336A>G (p.Ile112Met)
NM_152618.3(BBS12):c.347T>A (p.Met116Lys)
NM_152618.3(BBS12):c.356G>A (p.Gly119Asp) rs2150736114
NM_152618.3(BBS12):c.368G>A (p.Cys123Tyr)
NM_152618.3(BBS12):c.388C>A (p.Leu130Ile)
NM_152618.3(BBS12):c.400G>T (p.Val134Phe) rs1467415217
NM_152618.3(BBS12):c.428_429delinsAT (p.Ser143Asn)
NM_152618.3(BBS12):c.42G>A (p.Met14Ile)
NM_152618.3(BBS12):c.433A>G (p.Lys145Glu) rs1800890314
NM_152618.3(BBS12):c.436A>T (p.Thr146Ser) rs1800890438
NM_152618.3(BBS12):c.437C>T (p.Thr146Ile) rs2150736213
NM_152618.3(BBS12):c.521A>G (p.His174Arg)
NM_152618.3(BBS12):c.523G>T (p.Gly175Cys)
NM_152618.3(BBS12):c.547A>C (p.Thr183Pro)
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg) rs994493028
NM_152618.3(BBS12):c.577C>A (p.Pro193Thr) rs1246383248
NM_152618.3(BBS12):c.580C>A (p.Leu194Ile) rs200300023
NM_152618.3(BBS12):c.626A>G (p.Asp209Gly) rs1472424724
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly) rs1060501473
NM_152618.3(BBS12):c.706C>T (p.His236Tyr)
NM_152618.3(BBS12):c.709T>C (p.Phe237Leu)
NM_152618.3(BBS12):c.719C>T (p.Thr240Ile) rs140537219
NM_152618.3(BBS12):c.724A>G (p.Asn242Asp) rs2150736461
NM_152618.3(BBS12):c.725A>G (p.Asn242Ser) rs2150736463
NM_152618.3(BBS12):c.73A>G (p.Thr25Ala) rs2150735856
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala) rs758191621
NM_152618.3(BBS12):c.745C>T (p.Pro249Ser) rs758191621
NM_152618.3(BBS12):c.758A>C (p.Gln253Pro)
NM_152618.3(BBS12):c.758A>G (p.Gln253Arg)
NM_152618.3(BBS12):c.763C>G (p.His255Asp) rs2150736491
NM_152618.3(BBS12):c.76G>A (p.Gly26Arg)
NM_152618.3(BBS12):c.805G>A (p.Val269Ile) rs2150736540
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp) rs774510452
NM_152618.3(BBS12):c.847A>G (p.Met283Val) rs1173472896
NM_152618.3(BBS12):c.854TAG[1] (p.Val286del)
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del) rs745504524
NM_152618.3(BBS12):c.863A>C (p.Glu288Ala)
NM_152618.3(BBS12):c.896T>A (p.Val299Glu)
NM_152618.3(BBS12):c.911G>A (p.Cys304Tyr)
NM_152618.3(BBS12):c.911G>C (p.Cys304Ser)
NM_152618.3(BBS12):c.961C>G (p.Pro321Ala) rs2150736703
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del) rs779801356
NM_152618.3(BBS12):c.978_979inv (p.Ser327Thr)
NM_152618.3(BBS12):c.97C>A (p.Leu33Ile)
NM_152618.3(BBS12):c.994C>G (p.Pro332Ala)
NM_170784.3(MKKS):c.-417-13dup rs528193828
NM_170784.3(MKKS):c.-649+2292del rs566962031
NM_170784.3(MKKS):c.1184A>G (p.His395Arg)
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr) rs2122219712
NM_170784.3(MKKS):c.1526A>T (p.Asn509Ile)
NM_176824.3(BBS7):c.*1209_*1211del rs886059048
NM_176824.3(BBS7):c.1024A>G (p.Ile342Val) rs1726067128
NM_176824.3(BBS7):c.1037+5C>T rs749266895
NM_176824.3(BBS7):c.1038G>A (p.Arg346=) rs989502021
NM_176824.3(BBS7):c.1052A>G (p.His351Arg)
NM_176824.3(BBS7):c.1052A>T (p.His351Leu) rs940315256
NM_176824.3(BBS7):c.1087T>C (p.Tyr363His) rs2149068941
NM_176824.3(BBS7):c.1100C>T (p.Ser367Phe)
NM_176824.3(BBS7):c.1160T>C (p.Leu387Pro) rs2149068760
NM_176824.3(BBS7):c.1198G>A (p.Val400Ile)
NM_176824.3(BBS7):c.1207G>A (p.Ala403Thr) rs761858167
NM_176824.3(BBS7):c.1214A>G (p.Asp405Gly)
NM_176824.3(BBS7):c.1231-3T>C rs1725872645
NM_176824.3(BBS7):c.1237G>A (p.Val413Ile) rs2149066894
NM_176824.3(BBS7):c.1243A>C (p.Ile415Leu) rs1299054607
NM_176824.3(BBS7):c.127G>A (p.Val43Ile)
NM_176824.3(BBS7):c.1289G>A (p.Ser430Asn) rs1410107664
NM_176824.3(BBS7):c.1312G>A (p.Asp438Asn)
NM_176824.3(BBS7):c.1327G>A (p.Ala443Thr)
NM_176824.3(BBS7):c.1334A>C (p.Tyr445Ser)
NM_176824.3(BBS7):c.1334A>T (p.Tyr445Phe) rs776931328
NM_176824.3(BBS7):c.1340G>T (p.Cys447Phe) rs2149061880
NM_176824.3(BBS7):c.136T>G (p.Cys46Gly)
NM_176824.3(BBS7):c.1375C>A (p.Arg459Ser) rs150743868
NM_176824.3(BBS7):c.1451G>A (p.Arg484His) rs200720761
NM_176824.3(BBS7):c.1451G>C (p.Arg484Pro) rs200720761
NM_176824.3(BBS7):c.1457A>G (p.Tyr486Cys) rs2149056521
NM_176824.3(BBS7):c.1459C>A (p.His487Asn) rs1725389767
NM_176824.3(BBS7):c.148A>G (p.Lys50Glu) rs1727082207
NM_176824.3(BBS7):c.1504C>T (p.His502Tyr) rs2149056423
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser) rs763160690
NM_176824.3(BBS7):c.1522A>G (p.Thr508Ala)
NM_176824.3(BBS7):c.1558G>A (p.Val520Ile) rs1211533033
NM_176824.3(BBS7):c.1604C>T (p.Pro535Leu) rs1725285743
NM_176824.3(BBS7):c.1607C>T (p.Pro536Leu)
NM_176824.3(BBS7):c.1641C>G (p.Asn547Lys)
NM_176824.3(BBS7):c.165+5G>C rs760257318
NM_176824.3(BBS7):c.166G>T (p.Ala56Ser) rs1407094427
NM_176824.3(BBS7):c.1677-11T>G
NM_176824.3(BBS7):c.1712C>T (p.Ser571Phe) rs1295543172
NM_176824.3(BBS7):c.1764A>G (p.Lys588=)
NM_176824.3(BBS7):c.1785C>T (p.Tyr595=)
NM_176824.3(BBS7):c.1787-11A>G
NM_176824.3(BBS7):c.1788G>T (p.Glu596Asp)
NM_176824.3(BBS7):c.1825A>G (p.Ile609Val)
NM_176824.3(BBS7):c.1890+2dup
NM_176824.3(BBS7):c.1890+6T>C rs1553930514
NM_176824.3(BBS7):c.1923T>A (p.Phe641Leu)
NM_176824.3(BBS7):c.1970A>G (p.Gln657Arg) rs1724997637
NM_176824.3(BBS7):c.1975G>C (p.Glu659Gln)
NM_176824.3(BBS7):c.1978T>C (p.Tyr660His)
NM_176824.3(BBS7):c.2007A>T (p.Arg669Ser)
NM_176824.3(BBS7):c.2015G>T (p.Gly672Val)
NM_176824.3(BBS7):c.2035A>G (p.Ile679Val)
NM_176824.3(BBS7):c.2042A>C (p.Lys681Thr)
NM_176824.3(BBS7):c.2046T>G (p.Phe682Leu)
NM_176824.3(BBS7):c.2057G>A (p.Gly686Asp)
NM_176824.3(BBS7):c.2062A>T (p.Asn688Tyr) rs2149045701
NM_176824.3(BBS7):c.2074A>G (p.Lys692Glu) rs1724883700
NM_176824.3(BBS7):c.2083C>A (p.Leu695Ile)
NM_176824.3(BBS7):c.2105G>T (p.Ser702Ile)
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg) rs1229720963
NM_176824.3(BBS7):c.214G>A (p.Gly72Arg)
NM_176824.3(BBS7):c.22A>G (p.Met8Val) rs757370927
NM_176824.3(BBS7):c.22A>T (p.Met8Leu) rs757370927
NM_176824.3(BBS7):c.268A>G (p.Ile90Val)
NM_176824.3(BBS7):c.270T>G (p.Ile90Met)
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly) rs1050167281