ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2424
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
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_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_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.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.1051C>T (p.Arg351Trp) rs755412340 0.00010
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) rs540856754 0.00010
NM_144596.4(TTC8):c.484G>C (p.Gly162Arg) rs753150258 0.00010
NM_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_015910.7(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.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.2403A>G (p.Ile801Met) rs137993290 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_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_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.1780A>G (p.Ser594Gly) rs757524831 0.00003
NM_012210.4(TRIM32):c.1930A>G (p.Ser644Gly) rs1462453134 0.00003
NM_012210.4(TRIM32):c.206G>A (p.Arg69His) rs11556350 0.00003
NM_012210.4(TRIM32):c.24C>A (p.His8Gln) rs774511117 0.00003
NM_012210.4(TRIM32):c.337C>T (p.Arg113Trp) rs762785784 0.00003
NM_012210.4(TRIM32):c.434G>A (p.Arg145Gln) rs753519978 0.00003
NM_012210.4(TRIM32):c.488T>C (p.Leu163Pro) rs775940650 0.00003
NM_012210.4(TRIM32):c.812G>A (p.Arg271Gln) rs773872830 0.00003
NM_015910.7(WDPCP):c.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_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.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_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.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.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.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_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.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_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_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_024685.4(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_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.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_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
NC_000002.11:g.(?_169853125)_(170344644_?)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_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_000015.10:g.(?_72676034)_(72704515_?)dup
NC_000015.9:g.(?_72978549)_(73029948_?)dup
NC_000015.9:g.(?_72978569)_(75190071_?)dup
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_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_024649.5(BBS1):c.1006C>G (p.Leu336Val) rs765494351
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.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.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.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_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.118-6T>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.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.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.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>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.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.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_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
NM_176824.3(BBS7):c.301C>G (p.Leu101Val) rs2149087474
NM_176824.3(BBS7):c.302T>A (p.Leu101His) rs760863058
NM_176824.3(BBS7):c.326A>G (p.Glu109Gly) rs2149087444
NM_176824.3(BBS7):c.337G>T (p.Ala113Ser) rs2149087425
NM_176824.3(BBS7):c.340A>C (p.Met114Leu) rs142305911
NM_176824.3(BBS7):c.340A>G (p.Met114Val) rs142305911
NM_176824.3(BBS7):c.342-3C>G rs1244071022
NM_176824.3(BBS7):c.346A>G (p.Ile116Val) rs2149085075
NM_176824.3(BBS7):c.36+4A>G
NM_176824.3(BBS7):c.362T>A (p.Leu121His) rs2149085046
NM_176824.3(BBS7):c.379T>G (p.Tyr127Asp) rs2149085024
NM_176824.3(BBS7):c.389A>C (p.Asn130Thr) rs2149085001
NM_176824.3(BBS7):c.391C>T (p.His131Tyr)
NM_176824.3(BBS7):c.398G>A (p.Cys133Tyr) rs769735978
NM_176824.3(BBS7):c.436A>G (p.Lys146Glu)
NM_176824.3(BBS7):c.443A>G (p.Asn148Ser) rs2149084908
NM_176824.3(BBS7):c.454T>C (p.Cys152Arg) rs863224814
NM_176824.3(BBS7):c.505G>C (p.Asp169His)
NM_176824.3(BBS7):c.511G>C (p.Val171Leu)
NM_176824.3(BBS7):c.535G>A (p.Asp179Asn) rs2149080347
NM_176824.3(BBS7):c.543G>A (p.Met181Ile)
NM_176824.3(BBS7):c.574G>C (p.Val192Leu)
NM_176824.3(BBS7):c.578T>C (p.Leu193Ser) rs1726562977
NM_176824.3(BBS7):c.584T>C (p.Leu195Pro)
NM_176824.3(BBS7):c.586C>T (p.His196Tyr)
NM_176824.3(BBS7):c.600C>A (p.Gly200=) rs370053625
NM_176824.3(BBS7):c.600C>T (p.Gly200=) rs370053625
NM_176824.3(BBS7):c.602-4G>T
NM_176824.3(BBS7):c.632C>G (p.Thr211Arg) rs119466002
NM_176824.3(BBS7):c.635C>T (p.Ser212Leu)
NM_176824.3(BBS7):c.655A>G (p.Ile219Val) rs2149079121
NM_176824.3(BBS7):c.682C>T (p.Arg228Cys) rs762367354
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg) rs1727380420
NM_176824.3(BBS7):c.711G>T (p.Lys237Asn)
NM_176824.3(BBS7):c.718+3A>T
NM_176824.3(BBS7):c.718G>A (p.Gly240Ser)
NM_176824.3(BBS7):c.737G>A (p.Ser246Asn) rs1444684339
NM_176824.3(BBS7):c.746T>G (p.Ile249Ser)
NM_176824.3(BBS7):c.748G>C (p.Val250Leu)
NM_176824.3(BBS7):c.748G>T (p.Val250Leu) rs759886973
NM_176824.3(BBS7):c.785A>G (p.Asp262Gly) rs1726405384
NM_176824.3(BBS7):c.794T>C (p.Met265Thr) rs1726404404
NM_176824.3(BBS7):c.7C>A (p.Leu3Met)
NM_176824.3(BBS7):c.821C>G (p.Ala274Gly)
NM_176824.3(BBS7):c.821C>T (p.Ala274Val) rs754878470
NM_176824.3(BBS7):c.82A>G (p.Arg28Gly) rs2149094179
NM_176824.3(BBS7):c.842T>A (p.Phe281Tyr)
NM_176824.3(BBS7):c.847C>G (p.Gln283Glu)
NM_176824.3(BBS7):c.850-10A>G
NM_176824.3(BBS7):c.880G>A (p.Gly294Ser)
NM_176824.3(BBS7):c.886T>C (p.Cys296Arg) rs2149072518
NM_176824.3(BBS7):c.935-18T>G
NM_176824.3(BBS7):c.935G>C (p.Gly312Ala)
NM_176824.3(BBS7):c.945A>G (p.Thr315=)
NM_176824.3(BBS7):c.947G>T (p.Gly316Val)
NM_176824.3(BBS7):c.94A>G (p.Thr32Ala)
NM_176824.3(BBS7):c.976A>G (p.Ser326Gly) rs863224815
NM_198428.3(BBS9):c.1014_1015delinsTT (p.Leu338_His339delinsPheTyr) rs2128347670
NM_198428.3(BBS9):c.1016+2dup
NM_198428.3(BBS9):c.101G>A (p.Gly34Glu)
NM_198428.3(BBS9):c.1046G>A (p.Ser349Asn)
NM_198428.3(BBS9):c.1103C>T (p.Ala368Val) rs1815389952
NM_198428.3(BBS9):c.114T>G (p.Asp38Glu)
NM_198428.3(BBS9):c.11T>A (p.Phe4Tyr) rs746345067
NM_198428.3(BBS9):c.11T>G (p.Phe4Cys) rs746345067
NM_198428.3(BBS9):c.1228G>T (p.Asp410Tyr) rs1000831388
NM_198428.3(BBS9):c.1245C>A (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1249G>C (p.Val417Leu) rs751604593
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe) rs751604593
NM_198428.3(BBS9):c.1275+6T>G rs1816408545
NM_198428.3(BBS9):c.1288G>A (p.Val430Ile)
NM_198428.3(BBS9):c.1330G>C (p.Val444Leu)
NM_198428.3(BBS9):c.1367A>G (p.Lys456Arg) rs2128661224
NM_198428.3(BBS9):c.136A>T (p.Met46Leu)
NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser) rs762511626
NM_198428.3(BBS9):c.1426T>A (p.Phe476Ile)
NM_198428.3(BBS9):c.1453G>C (p.Val485Leu)
NM_198428.3(BBS9):c.1466T>C (p.Val489Ala)
NM_198428.3(BBS9):c.1531C>A (p.Pro511Thr)
NM_198428.3(BBS9):c.1532C>A (p.Pro511Gln) rs965817527
NM_198428.3(BBS9):c.1532C>G (p.Pro511Arg)
NM_198428.3(BBS9):c.1544A>T (p.Asn515Ile)
NM_198428.3(BBS9):c.1547C>T (p.Pro516Leu)
NM_198428.3(BBS9):c.1552+5G>T
NM_198428.3(BBS9):c.1562G>C (p.Arg521Pro) rs34218557
NM_198428.3(BBS9):c.1582A>G (p.Arg528Gly)
NM_198428.3(BBS9):c.1586T>A (p.Leu529His)
NM_198428.3(BBS9):c.1596G>C (p.Lys532Asn)
NM_198428.3(BBS9):c.160C>A (p.Pro54Thr)
NM_198428.3(BBS9):c.1610C>T (p.Pro537Leu)
NM_198428.3(BBS9):c.1637A>G (p.His546Arg)
NM_198428.3(BBS9):c.1646C>G (p.Thr549Ser)
NM_198428.3(BBS9):c.1670T>G (p.Val557Gly) rs1819942366
NM_198428.3(BBS9):c.1691C>T (p.Pro564Leu)
NM_198428.3(BBS9):c.1693+4del rs2128687729
NM_198428.3(BBS9):c.176C>A (p.Thr59Lys) rs749727731
NM_198428.3(BBS9):c.1775C>G (p.Ala592Gly)
NM_198428.3(BBS9):c.1786T>G (p.Ser596Ala)
NM_198428.3(BBS9):c.1789+5G>T rs2128714437
NM_198428.3(BBS9):c.1790-3C>T
NM_198428.3(BBS9):c.1793G>A (p.Arg598Gln)
NM_198428.3(BBS9):c.1799G>A (p.Arg600His) rs749018243
NM_198428.3(BBS9):c.1799G>T (p.Arg600Leu)
NM_198428.3(BBS9):c.1808G>C (p.Ser603Thr) rs1584588488
NM_198428.3(BBS9):c.1841A>G (p.Asn614Ser) rs1825501129
NM_198428.3(BBS9):c.1843G>A (p.Glu615Lys) rs993175361
NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly) rs370925964
NM_198428.3(BBS9):c.1928A>G (p.Gln643Arg) rs1048014676
NM_198428.3(BBS9):c.1937T>C (p.Phe646Ser)
NM_198428.3(BBS9):c.1951C>G (p.His651Asp)
NM_198428.3(BBS9):c.1962+3A>T rs1017765966
NM_198428.3(BBS9):c.1963-6T>C rs769047017
NM_198428.3(BBS9):c.1966C>T (p.Arg656Trp)
NM_198428.3(BBS9):c.196G>A (p.Glu66Lys)
NM_198428.3(BBS9):c.1992A>C (p.Glu664Asp) rs2128756476
NM_198428.3(BBS9):c.19C>A (p.Arg7Ser)
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys) rs184994140
NM_198428.3(BBS9):c.2009C>T (p.Ala670Val)
NM_198428.3(BBS9):c.2021G>A (p.Arg674Gln)
NM_198428.3(BBS9):c.2027T>C (p.Ile676Thr)
NM_198428.3(BBS9):c.2035C>T (p.Arg679Trp) rs749841788
NM_198428.3(BBS9):c.206T>C (p.Leu69Pro) rs771129780
NM_198428.3(BBS9):c.2070_2071delinsTA (p.Pro691Thr)
NM_198428.3(BBS9):c.2080C>T (p.His694Tyr) rs2128756856
NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn) rs1274816953
NM_198428.3(BBS9):c.20G>A (p.Arg7His) rs746340993
NM_198428.3(BBS9):c.20G>C (p.Arg7Pro) rs746340993
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu) rs746340993
NM_198428.3(BBS9):c.2101G>A (p.Gly701Arg)
NM_198428.3(BBS9):c.2108A>G (p.Tyr703Cys)
NM_198428.3(BBS9):c.2120T>C (p.Ile707Thr)
NM_198428.3(BBS9):c.2134G>A (p.Ala712Thr)
NM_198428.3(BBS9):c.214G>A (p.Val72Met) rs765240871
NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn) rs1393453305
NM_198428.3(BBS9):c.2245G>C (p.Val749Leu) rs1563271285
NM_198428.3(BBS9):c.2261C>T (p.Ala754Val)
NM_198428.3(BBS9):c.2298+5G>A rs1846053369
NM_198428.3(BBS9):c.2312C>T (p.Thr771Met)
NM_198428.3(BBS9):c.2357_2359del (p.Lys786del)
NM_198428.3(BBS9):c.2358G>C (p.Lys786Asn)
NM_198428.3(BBS9):c.2370G>T (p.Glu790Asp)
NM_198428.3(BBS9):c.2385_2396del (p.Ser797_Asn800del)
NM_198428.3(BBS9):c.2462A>C (p.Lys821Thr) rs1851006563
NM_198428.3(BBS9):c.2489A>G (p.Asp830Gly)
NM_198428.3(BBS9):c.2494G>C (p.Ala832Pro)
NM_198428.3(BBS9):c.2511G>T (p.Met837Ile)
NM_198428.3(BBS9):c.2518C>T (p.Pro840Ser)
NM_198428.3(BBS9):c.251G>A (p.Gly84Glu) rs766917697
NM_198428.3(BBS9):c.2522-3T>C
NM_198428.3(BBS9):c.2522-5A>G rs2129207620
NM_198428.3(BBS9):c.2534C>G (p.Thr845Arg) rs2129207675
NM_198428.3(BBS9):c.253A>C (p.Lys85Gln)
NM_198428.3(BBS9):c.2581A>T (p.Thr861Ser) rs1864358642
NM_198428.3(BBS9):c.2588T>A (p.Leu863Gln)
NM_198428.3(BBS9):c.2591T>G (p.Phe864Cys) rs1490049568
NM_198428.3(BBS9):c.2594C>T (p.Thr865Ile)
NM_198428.3(BBS9):c.259G>A (p.Val87Ile) rs1255605179
NM_198428.3(BBS9):c.2604A>C (p.Arg868Ser)
NM_198428.3(BBS9):c.2623C>A (p.Pro875Thr) rs755911247
NM_198428.3(BBS9):c.263+4A>G rs370916293
NM_198428.3(BBS9):c.2631del (p.Glu878fs) rs1401159616
NM_198428.3(BBS9):c.2633-2A>G rs1864417554
NM_198428.3(BBS9):c.2633-3C>G rs1422030068
NM_198428.3(BBS9):c.2642C>G (p.Pro881Arg)
NM_198428.3(BBS9):c.2642C>T (p.Pro881Leu)
NM_198428.3(BBS9):c.2648A>G (p.Gln883Arg) rs967703053
NM_198428.3(BBS9):c.27G>C (p.Trp9Cys)
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG rs775674614
NM_198428.3(BBS9):c.341A>G (p.Asn114Ser) rs1797497751
NM_198428.3(BBS9):c.349C>T (p.His117Tyr)
NM_198428.3(BBS9):c.377T>C (p.Met126Thr) rs2128162902
NM_198428.3(BBS9):c.385C>T (p.His129Tyr) rs886062284
NM_198428.3(BBS9):c.396G>C (p.Gln132His) rs10255104
NM_198428.3(BBS9):c.412A>G (p.Met138Val)
NM_198428.3(BBS9):c.450T>A (p.Asp150Glu) rs2128312333
NM_198428.3(BBS9):c.455T>C (p.Ile152Thr)
NM_198428.3(BBS9):c.485T>C (p.Met162Thr) rs1797227483
NM_198428.3(BBS9):c.49_51del (p.Lys17del) rs1562672388
NM_198428.3(BBS9):c.509C>A (p.Ala170Asp)
NM_198428.3(BBS9):c.527C>G (p.Pro176Arg)
NM_198428.3(BBS9):c.529G>T (p.Gly177Cys) rs750278720
NM_198428.3(BBS9):c.544G>T (p.Gly182Cys) rs946999139
NM_198428.3(BBS9):c.548C>T (p.Pro183Leu)
NM_198428.3(BBS9):c.563C>T (p.Ser188Phe) rs2128312652
NM_198428.3(BBS9):c.580C>T (p.Leu194Phe) rs1797251379
NM_198428.3(BBS9):c.60T>A (p.Phe20Leu)
NM_198428.3(BBS9):c.614A>T (p.Tyr205Phe)
NM_198428.3(BBS9):c.618-3C>G rs1460288162
NM_198428.3(BBS9):c.61G>C (p.Asp21His)
NM_198428.3(BBS9):c.625G>T (p.Val209Leu)
NM_198428.3(BBS9):c.628C>A (p.Leu210Ile)
NM_198428.3(BBS9):c.644A>T (p.Asp215Val)
NM_198428.3(BBS9):c.657G>T (p.Arg219Ser) rs1307359911
NM_198428.3(BBS9):c.660_674del (p.Glu221_Gln225del) rs1562901016
NM_198428.3(BBS9):c.677A>C (p.Lys226Thr) rs1562901214
NM_198428.3(BBS9):c.688G>A (p.Gly230Arg) rs1798450904
NM_198428.3(BBS9):c.692A>T (p.Lys231Ile)
NM_198428.3(BBS9):c.702T>A (p.Val234=) rs1373479665
NM_198428.3(BBS9):c.71G>A (p.Cys24Tyr) rs1792335317
NM_198428.3(BBS9):c.742A>C (p.Ile248Leu) rs577724923
NM_198428.3(BBS9):c.745T>C (p.Cys249Arg)
NM_198428.3(BBS9):c.746G>A (p.Cys249Tyr) rs772441123
NM_198428.3(BBS9):c.755C>T (p.Ser252Phe)
NM_198428.3(BBS9):c.767C>G (p.Ser256Trp) rs149790873
NM_198428.3(BBS9):c.778G>A (p.Val260Ile) rs149093988
NM_198428.3(BBS9):c.778G>T (p.Val260Phe) rs149093988
NM_198428.3(BBS9):c.802T>A (p.Phe268Ile) rs939805930
NM_198428.3(BBS9):c.831T>G (p.Ile277Met) rs1800123284
NM_198428.3(BBS9):c.83C>T (p.Ala28Val) rs1792337794
NM_198428.3(BBS9):c.850G>T (p.Asp284Tyr) rs1800127011
NM_198428.3(BBS9):c.858C>G (p.Ser286Arg)
NM_198428.3(BBS9):c.863G>C (p.Ser288Thr) rs2128345247
NM_198428.3(BBS9):c.886+4T>A rs542391272
NM_198428.3(BBS9):c.938A>C (p.His313Pro) rs533714503
NM_198428.3(BBS9):c.940A>G (p.Ile314Val)
NM_198428.3(BBS9):c.948A>G (p.Gln316=)
NM_198428.3(BBS9):c.962A>G (p.Lys321Arg)

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