ClinVar Miner

List of variants in gene BBS9 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 935
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HGVS dbSNP gnomAD frequency
NM_198428.3(BBS9):c.1330-62C>T rs9785054 0.99266
NM_198428.3(BBS9):c.1329+1606C>T rs6974593 0.97489
NM_198428.3(BBS9):c.*110C>T rs1050721 0.45573
NM_198428.3(BBS9):c.*103T>C rs1050719 0.40841
NM_198428.3(BBS9):c.1275+13G>T rs11981364 0.26909
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504 0.17589
NM_198428.3(BBS9):c.-407C>G rs3750123 0.15979
NM_198428.3(BBS9):c.263+39A>G rs17169881 0.15964
NM_198428.3(BBS9):c.-12+7T>C rs1468797 0.15207
NM_198428.3(BBS9):c.-259G>A rs73095326 0.10731
NM_198428.3(BBS9):c.1017-6T>C rs61756571 0.03520
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153 0.02890
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382 0.02858
NM_198428.3(BBS9):c.*549A>G rs73690947 0.01710
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_198428.3(BBS9):c.*138A>C rs59454255 0.01586
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440 0.01355
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904 0.01256
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557 0.00872
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_198428.3(BBS9):c.*371G>A rs79271934 0.00768
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567 0.00765
NM_198428.3(BBS9):c.1694-6T>C rs28622379 0.00710
NM_198428.3(BBS9):c.2116-20G>A rs149813362 0.00658
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_198428.3(BBS9):c.-305T>G rs112060099 0.00592
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524 0.00539
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245 0.00370
NM_198428.3(BBS9):c.*453C>G rs74748415 0.00361
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln) rs142434516 0.00185
NM_198428.3(BBS9):c.*336A>G rs578208457 0.00135
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527 0.00088
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061 0.00081
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446 0.00081
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076
NM_198428.3(BBS9):c.2214C>T (p.Ile738=) rs148536971 0.00071
NM_198428.3(BBS9):c.-397G>A rs561901329 0.00070
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068 0.00066
NM_198428.3(BBS9):c.1432+7T>G rs150963080 0.00058
NM_198428.3(BBS9):c.*589G>A rs548920550 0.00056
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526 0.00053
NM_198428.3(BBS9):c.*29A>G rs373446119 0.00041
NM_198428.3(BBS9):c.2322C>T (p.Ala774=) rs145435891 0.00037
NM_198428.3(BBS9):c.887-7C>T rs376333670 0.00036
NM_198428.3(BBS9):c.666T>A (p.Thr222=) rs145385875 0.00035
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066 0.00034
NM_198428.3(BBS9):c.1918A>G (p.Ile640Val) rs144112103 0.00034
NM_198428.3(BBS9):c.2294A>G (p.Glu765Gly) rs140882212 0.00031
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811 0.00031
NM_198428.3(BBS9):c.*444G>A rs75625812 0.00030
NM_198428.3(BBS9):c.2115+20C>T rs779186804 0.00028
NM_198428.3(BBS9):c.621C>T (p.Tyr207=) rs140169161 0.00026
NM_198428.3(BBS9):c.2211G>A (p.Leu737=) rs144672900 0.00024
NM_198428.3(BBS9):c.113-13A>T rs766360617 0.00022
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391 0.00022
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu) rs769669385 0.00021
NM_198428.3(BBS9):c.328+18C>T rs201767914 0.00021
NM_198428.3(BBS9):c.771A>G (p.Ala257=) rs145007686 0.00021
NM_198428.3(BBS9):c.886+14T>G rs368019366 0.00019
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420 0.00016
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln) rs149042169 0.00014
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_198428.3(BBS9):c.1112T>C (p.Val371Ala) rs138436479 0.00011
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile) rs139303948 0.00011
NM_198428.3(BBS9):c.1790-16A>G rs545383863 0.00011
NM_198428.3(BBS9):c.2022G>T (p.Arg674=) rs561957887 0.00011
NM_198428.3(BBS9):c.862A>G (p.Ser288Gly) rs146770174 0.00011
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp) rs369647403 0.00011
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776 0.00010
NM_198428.3(BBS9):c.1963-13T>C rs775660869 0.00010
NM_198428.3(BBS9):c.436G>A (p.Val146Ile) rs372412756 0.00010
NM_198428.3(BBS9):c.2509A>G (p.Met837Val) rs771310981 0.00009
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133 0.00009
NM_198428.3(BBS9):c.1538-9G>T rs770317221 0.00008
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile) rs143016114 0.00008
NM_198428.3(BBS9):c.2313G>A (p.Thr771=) rs374269883 0.00008
NM_198428.3(BBS9):c.2033G>A (p.Arg678His) rs200654248 0.00007
NM_198428.3(BBS9):c.2241C>T (p.Asp747=) rs144089673 0.00007
NM_198428.3(BBS9):c.921T>G (p.Asn307Lys) rs769663141 0.00007
NM_198428.3(BBS9):c.138G>A (p.Met46Ile) rs145241295 0.00006
NM_198428.3(BBS9):c.1560G>A (p.Pro520=) rs779586578 0.00006
NM_198428.3(BBS9):c.174A>G (p.Lys58=) rs148812031 0.00006
NM_198428.3(BBS9):c.2115+19A>G rs184420556 0.00006
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met) rs137993290 0.00006
NM_198428.3(BBS9):c.2521+16A>G rs781066901 0.00006
NM_198428.3(BBS9):c.833G>A (p.Arg278Gln) rs754343745 0.00006
NM_198428.3(BBS9):c.1949A>G (p.Asp650Gly) rs201876934 0.00005
NM_198428.3(BBS9):c.2449G>A (p.Asp817Asn) rs781476538 0.00005
NM_198428.3(BBS9):c.270C>T (p.Thr90=) rs747398844 0.00005
NM_198428.3(BBS9):c.663G>T (p.Glu221Asp) rs767766656 0.00005
NM_198428.3(BBS9):c.*337C>T rs1188169231 0.00004
NM_198428.3(BBS9):c.*406A>G rs748029581 0.00004
NM_198428.3(BBS9):c.-206T>G rs953412791 0.00004
NM_198428.3(BBS9):c.113-14T>A rs543714605 0.00004
NM_198428.3(BBS9):c.1198+13C>T rs753894974 0.00004
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp) rs1312526837 0.00004
NM_198428.3(BBS9):c.1237G>A (p.Val413Ile) rs778518775 0.00004
NM_198428.3(BBS9):c.1276-17C>T rs199758277 0.00004
NM_198428.3(BBS9):c.1293G>C (p.Glu431Asp) rs767170924 0.00004
NM_198428.3(BBS9):c.1322C>T (p.Thr441Met) rs140675013 0.00004
NM_198428.3(BBS9):c.1468T>C (p.Tyr490His) rs760084192 0.00004
NM_198428.3(BBS9):c.1611A>C (p.Pro537=) rs140411078 0.00004
NM_198428.3(BBS9):c.1889A>G (p.Lys630Arg) rs561404900 0.00004
NM_198428.3(BBS9):c.2215G>A (p.Ala739Thr) rs369881355 0.00004
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe) rs779871496 0.00004
NM_198428.3(BBS9):c.2550C>A (p.Asp850Glu) rs768072201 0.00004
NM_198428.3(BBS9):c.2605C>T (p.His869Tyr) rs938197989 0.00004
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter) rs150826095 0.00004
NM_198428.3(BBS9):c.2657C>T (p.Ser886Leu) rs779169794 0.00004
NM_198428.3(BBS9):c.559A>G (p.Ser187Gly) rs771447042 0.00004
NM_198428.3(BBS9):c.58T>G (p.Phe20Val) rs779638896 0.00004
NM_198428.3(BBS9):c.600A>G (p.Gln200=) rs764060515 0.00004
NM_198428.3(BBS9):c.702+6G>A rs777329822 0.00004
NM_198428.3(BBS9):c.715C>T (p.Leu239=) rs751112173 0.00004
NM_198428.3(BBS9):c.809G>C (p.Cys270Ser) rs763742314 0.00004
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg) rs377207430 0.00004
NM_198428.3(BBS9):c.1236C>T (p.Asn412=) rs139235142 0.00003
NM_198428.3(BBS9):c.1264G>T (p.Asp422Tyr) rs140198337 0.00003
NM_198428.3(BBS9):c.1377C>T (p.Val459=) rs763552337 0.00003
NM_198428.3(BBS9):c.1480A>T (p.Ser494Cys) rs765846163 0.00003
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala) rs369146555 0.00003
NM_198428.3(BBS9):c.1553-11T>C rs756802547 0.00003
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162 0.00003
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856 0.00003
NM_198428.3(BBS9):c.1801A>G (p.Ile601Val) rs377588119 0.00003
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter) rs769256027 0.00003
NM_198428.3(BBS9):c.2020C>T (p.Arg674Trp) rs368526968 0.00003
NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile) rs749948775 0.00003
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu) rs757754301 0.00003
NM_198428.3(BBS9):c.2487C>T (p.Thr829=) rs746373450 0.00003
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638 0.00003
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708 0.00003
NM_198428.3(BBS9):c.528T>A (p.Pro176=) rs757308943 0.00003
NM_198428.3(BBS9):c.102A>T (p.Gly34=) rs753601080 0.00002
NM_198428.3(BBS9):c.1431G>A (p.Met477Ile) rs1443035026 0.00002
NM_198428.3(BBS9):c.145C>G (p.Leu49Val) rs777409972 0.00002
NM_198428.3(BBS9):c.1553-17T>A rs1297146159 0.00002
NM_198428.3(BBS9):c.1741C>T (p.His581Tyr) rs537110423 0.00002
NM_198428.3(BBS9):c.1798C>T (p.Arg600Cys) rs775703296 0.00002
NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr) rs778505224 0.00002
NM_198428.3(BBS9):c.2036G>A (p.Arg679Gln) rs768958916 0.00002
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu) rs760800602 0.00002
NM_198428.3(BBS9):c.205C>A (p.Leu69Ile) rs375757123 0.00002
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992 0.00002
NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal) rs752782918 0.00002
NM_198428.3(BBS9):c.2445C>G (p.Leu815=) rs758338410 0.00002
NM_198428.3(BBS9):c.2468G>A (p.Gly823Asp) rs1176589347 0.00002
NM_198428.3(BBS9):c.249A>T (p.Val83=) rs377626008 0.00002
NM_198428.3(BBS9):c.2633-15T>C rs757904510 0.00002
NM_198428.3(BBS9):c.2653G>T (p.Val885Phe) rs950624105 0.00002
NM_198428.3(BBS9):c.335T>C (p.Leu112Ser) rs904098347 0.00002
NM_198428.3(BBS9):c.433G>A (p.Gly145Ser) rs144340890 0.00002
NM_198428.3(BBS9):c.565C>T (p.Arg189Cys) rs776941068 0.00002
NM_198428.3(BBS9):c.566G>A (p.Arg189His) rs547643751 0.00002
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly) rs1264926096 0.00002
NM_198428.3(BBS9):c.*12T>C rs770978235 0.00001
NM_198428.3(BBS9):c.*585C>T rs1273092896 0.00001
NM_198428.3(BBS9):c.*801G>A rs1216449046 0.00001
NM_198428.3(BBS9):c.-163G>C rs886062281 0.00001
NM_198428.3(BBS9):c.-271G>A rs886062280 0.00001
NM_198428.3(BBS9):c.1016+13A>G rs1800275981 0.00001
NM_198428.3(BBS9):c.1016+9T>C rs1368671043 0.00001
NM_198428.3(BBS9):c.1033A>G (p.Ile345Val) rs1426530664 0.00001
NM_198428.3(BBS9):c.1048G>C (p.Asp350His) rs1450271969 0.00001
NM_198428.3(BBS9):c.1056T>A (p.Gly352=) rs1815379840 0.00001
NM_198428.3(BBS9):c.1111G>A (p.Val371Ile) rs1366355966 0.00001
NM_198428.3(BBS9):c.112+13C>A rs1562672800 0.00001
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter) rs998200637 0.00001
NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter) rs370729939 0.00001
NM_198428.3(BBS9):c.1147G>A (p.Val383Ile) rs1030973947 0.00001
NM_198428.3(BBS9):c.1175del (p.Ile392fs) rs1815414782 0.00001
NM_198428.3(BBS9):c.1210A>G (p.Met404Val) rs779666112 0.00001
NM_198428.3(BBS9):c.122T>G (p.Ile41Ser) rs1381039813 0.00001
NM_198428.3(BBS9):c.1258A>G (p.Asn420Asp) rs1436119227 0.00001
NM_198428.3(BBS9):c.1287T>C (p.Asp429=) rs765234386 0.00001
NM_198428.3(BBS9):c.1329+5T>C rs200033003 0.00001
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr) rs773192233 0.00001
NM_198428.3(BBS9):c.1361A>G (p.Lys454Arg) rs370631861 0.00001
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) rs762511626 0.00001
NM_198428.3(BBS9):c.1464T>C (p.Ser488=) rs200850911 0.00001
NM_198428.3(BBS9):c.1481G>A (p.Ser494Asn) rs775868685 0.00001
NM_198428.3(BBS9):c.1511C>T (p.Ala504Val) rs750504833 0.00001
NM_198428.3(BBS9):c.1537+14C>T rs754694089 0.00001
NM_198428.3(BBS9):c.1538-7T>G rs375661214 0.00001
NM_198428.3(BBS9):c.1558C>T (p.Pro520Ser) rs149730302 0.00001
NM_198428.3(BBS9):c.155T>G (p.Phe52Cys) rs756750359 0.00001
NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter) rs748601675 0.00001
NM_198428.3(BBS9):c.1574G>A (p.Cys525Tyr) rs746119144 0.00001
NM_198428.3(BBS9):c.1593A>G (p.Leu531=) rs1819915912 0.00001
NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr) rs1326810030 0.00001
NM_198428.3(BBS9):c.1642A>G (p.Ile548Val) rs1050416352 0.00001
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala) rs1310602174 0.00001
NM_198428.3(BBS9):c.1686C>T (p.Leu562=) rs1278366304 0.00001
NM_198428.3(BBS9):c.1693+1G>A rs1295000119 0.00001
NM_198428.3(BBS9):c.1699G>A (p.Ala567Thr) rs200439561 0.00001
NM_198428.3(BBS9):c.1790-15A>T rs758380962 0.00001
NM_198428.3(BBS9):c.1790-7C>T rs746901030 0.00001
NM_198428.3(BBS9):c.1815A>G (p.Gln605=) rs1292611620 0.00001
NM_198428.3(BBS9):c.1819G>A (p.Glu607Lys) rs771575427 0.00001
NM_198428.3(BBS9):c.1836A>G (p.Ile612Met) rs752845007 0.00001
NM_198428.3(BBS9):c.1855C>T (p.Arg619Cys) rs543113169 0.00001
NM_198428.3(BBS9):c.1856G>A (p.Arg619His) rs750412402 0.00001
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu) rs771777721 0.00001
NM_198428.3(BBS9):c.1911G>A (p.Ser637=) rs138454676 0.00001
NM_198428.3(BBS9):c.1918_1920dup (p.Ile640dup) rs761174142 0.00001
NM_198428.3(BBS9):c.1963-11A>G rs749640684 0.00001
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys) rs746543061 0.00001
NM_198428.3(BBS9):c.2070C>G (p.Ala690=) rs200515072 0.00001
NM_198428.3(BBS9):c.2072C>T (p.Pro691Leu) rs759571062 0.00001
NM_198428.3(BBS9):c.2088C>A (p.Asp696Glu) rs752548438 0.00001
NM_198428.3(BBS9):c.2099A>G (p.Asp700Gly) rs763790518 0.00001
NM_198428.3(BBS9):c.2116-4G>T rs769866686 0.00001
NM_198428.3(BBS9):c.2136A>G (p.Ala712=) rs1200861380 0.00001
NM_198428.3(BBS9):c.2142G>A (p.Glu714=) rs1846024220 0.00001
NM_198428.3(BBS9):c.214del (p.Val72fs) rs1384578916 0.00001
NM_198428.3(BBS9):c.2208G>A (p.Leu736=) rs758765828 0.00001
NM_198428.3(BBS9):c.2274G>A (p.Pro758=) rs746134918 0.00001
NM_198428.3(BBS9):c.231A>G (p.Pro77=) rs763936170 0.00001
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu) rs1402083567 0.00001
NM_198428.3(BBS9):c.2373G>T (p.Gln791His) rs758968522 0.00001
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser) rs774701632 0.00001
NM_198428.3(BBS9):c.2433T>C (p.His811=) rs1850999612 0.00001
NM_198428.3(BBS9):c.2448C>T (p.Cys816=) rs375606348 0.00001
NM_198428.3(BBS9):c.2472T>C (p.Arg824=) rs753957320 0.00001
NM_198428.3(BBS9):c.2491G>A (p.Ala831Thr) rs1851012393 0.00001
NM_198428.3(BBS9):c.2533A>G (p.Thr845Ala) rs545725547 0.00001
NM_198428.3(BBS9):c.2566G>T (p.Val856Leu) rs764122627 0.00001
NM_198428.3(BBS9):c.2621C>T (p.Thr874Ile) rs750363787 0.00001
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser) rs755911247 0.00001
NM_198428.3(BBS9):c.263+13A>T rs374383847 0.00001
NM_198428.3(BBS9):c.263+1G>A rs137962929 0.00001
NM_198428.3(BBS9):c.2633-10T>C rs879202314 0.00001
NM_198428.3(BBS9):c.2636T>A (p.Val879Asp) rs976242629 0.00001
NM_198428.3(BBS9):c.263C>T (p.Ser88Leu) rs749974697 0.00001
NM_198428.3(BBS9):c.2654T>C (p.Val885Ala) rs1238854328 0.00001
NM_198428.3(BBS9):c.2658G>A (p.Ser886=) rs748336687 0.00001
NM_198428.3(BBS9):c.272A>T (p.Glu91Val) rs886062283 0.00001
NM_198428.3(BBS9):c.312T>C (p.Cys104=) rs1793992071 0.00001
NM_198428.3(BBS9):c.318C>T (p.Tyr106=) rs200476774 0.00001
NM_198428.3(BBS9):c.328+16A>G rs749205665 0.00001
NM_198428.3(BBS9):c.395A>G (p.Gln132Arg) rs542324847 0.00001
NM_198428.3(BBS9):c.397A>G (p.Arg133Gly) rs759120113 0.00001
NM_198428.3(BBS9):c.410A>G (p.Asn137Ser) rs752108930 0.00001
NM_198428.3(BBS9):c.442+1G>C rs587777811 0.00001
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter) rs781174906 0.00001
NM_198428.3(BBS9):c.469A>G (p.Met157Val) rs148763093 0.00001
NM_198428.3(BBS9):c.49A>G (p.Lys17Glu) rs1329996453 0.00001
NM_198428.3(BBS9):c.507T>C (p.Tyr169=) rs376901170 0.00001
NM_198428.3(BBS9):c.519A>G (p.Arg173=) rs911834235 0.00001
NM_198428.3(BBS9):c.632C>T (p.Ala211Val) rs1225416201 0.00001
NM_198428.3(BBS9):c.665C>T (p.Thr222Ile) rs1317691865 0.00001
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser) rs1279852557 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
NM_198428.3(BBS9):c.839T>C (p.Met280Thr) rs143119193 0.00001
NM_198428.3(BBS9):c.894A>C (p.Glu298Asp) rs757469936 0.00001
NM_198428.3(BBS9):c.929A>T (p.Asn310Ile) rs1341125124 0.00001
NM_198428.3(BBS9):c.930C>T (p.Asn310=) rs140396972 0.00001
NM_198428.3(BBS9):c.938A>G (p.His313Arg) rs533714503 0.00001
NM_198428.3(BBS9):c.954G>A (p.Val318=) rs774067100 0.00001
NM_198428.3(BBS9):c.979C>T (p.Pro327Ser) rs760272596 0.00001
NM_198428.3(BBS9):c.989C>T (p.Pro330Leu) rs370056161 0.00001
NC_000007.13:g.(33192464_33195249)_(33195315_33217089)del
NC_000007.13:g.(33376235_33380508)_(33380586_33384192)del
NC_000007.13:g.(33427757_33545074)_(33573789_33644476)del
NC_000007.13:g.(?_33185845)_(33185996_?)dup
NC_000007.13:g.(?_33185855)_(33195324_?)del
NC_000007.13:g.(?_33185865)_(33644838_?)dup
NC_000007.13:g.(?_33192293)_(33192483_?)dup
NC_000007.13:g.(?_33192313)_(33195314_?)dup
NC_000007.13:g.(?_33195240)_(33195324_?)dup
NC_000007.13:g.(?_33296828)_(33313588_?)del
NC_000007.13:g.(?_33296828)_(33427776_?)del
NC_000007.13:g.(?_33312604)_(33313588_?)dup
NC_000007.13:g.(?_33376033)_(33427776_?)del
NC_000007.13:g.(?_33388660)_(33388802_?)del
NC_000007.13:g.(?_33388660)_(33397627_?)del
NC_000007.13:g.(?_33423258)_(33427776_?)dup
NC_000007.13:g.(?_33644457)_(33644838_?)dup
NC_000007.13:g.(?_33644477)_(33767915_?)dup
NC_000007.14:g.(?_33505463)_(33505645_?)del
NC_000007.14:g.(?_33505463)_(33605226_?)del
NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del
NM_198428.2(BBS9):c.(?_-1)_328+?del
NM_198428.2:c.2115+21712_2521+234del
NM_198428.3(BBS9):c.*323A>G rs1864473091
NM_198428.3(BBS9):c.*729C>T rs1864525540
NM_198428.3(BBS9):c.*778_*780dup rs886062289
NM_198428.3(BBS9):c.-228T>G rs771734972
NM_198428.3(BBS9):c.-37dup rs886062282
NM_198428.3(BBS9):c.-408T>G rs886062279
NM_198428.3(BBS9):c.1000A>C (p.Arg334=)
NM_198428.3(BBS9):c.1014_1015delinsTT (p.Leu338_His339delinsPheTyr) rs2128347670
NM_198428.3(BBS9):c.1016+19C>T
NM_198428.3(BBS9):c.1016+20A>G rs2128347768
NM_198428.3(BBS9):c.1016+2dup
NM_198428.3(BBS9):c.1016+5G>T rs1800274291
NM_198428.3(BBS9):c.1016+7del
NM_198428.3(BBS9):c.1016+8A>G
NM_198428.3(BBS9):c.1016+8A>T
NM_198428.3(BBS9):c.1017-14C>T
NM_198428.3(BBS9):c.1017-4G>T
NM_198428.3(BBS9):c.101G>A (p.Gly34Glu)
NM_198428.3(BBS9):c.1020T>C (p.Asp340=)
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
NM_198428.3(BBS9):c.1027G>T (p.Gly343Ter)
NM_198428.3(BBS9):c.102A>G (p.Gly34=)
NM_198428.3(BBS9):c.1035A>C (p.Ile345=)
NM_198428.3(BBS9):c.1042C>T (p.Leu348=)
NM_198428.3(BBS9):c.1046G>A (p.Ser349Asn)
NM_198428.3(BBS9):c.104_112+4del rs869025208
NM_198428.3(BBS9):c.1052A>T (p.Asp351Val) rs1815378459
NM_198428.3(BBS9):c.1053T>C (p.Asp351=)
NM_198428.3(BBS9):c.1059C>T (p.His353=) rs2128625827
NM_198428.3(BBS9):c.105T>C (p.Asn35=) rs577536627
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.1065G>A (p.Gln355=) rs756380526
NM_198428.3(BBS9):c.1099C>T (p.Gln367Ter)
NM_198428.3(BBS9):c.1103C>T (p.Ala368Val) rs1815389952
NM_198428.3(BBS9):c.1104T>G (p.Ala368=)
NM_198428.3(BBS9):c.1107A>G (p.Pro369=) rs1227576006
NM_198428.3(BBS9):c.1116A>G (p.Gln372=)
NM_198428.3(BBS9):c.112+11T>G rs1792345660
NM_198428.3(BBS9):c.112+18A>G
NM_198428.3(BBS9):c.112+19T>A
NM_198428.3(BBS9):c.112+21_112+22del
NM_198428.3(BBS9):c.1125A>G (p.Glu375=)
NM_198428.3(BBS9):c.1128A>G (p.Leu376=)
NM_198428.3(BBS9):c.113-17_113-16insG
NM_198428.3(BBS9):c.113-2A>G rs1562686929
NM_198428.3(BBS9):c.113-9T>C rs1793527699
NM_198428.3(BBS9):c.1130A>G (p.Asn377Ser) rs886062285
NM_198428.3(BBS9):c.1134T>C (p.Tyr378=)
NM_198428.3(BBS9):c.114T>G (p.Asp38Glu)
NM_198428.3(BBS9):c.1152A>G (p.Glu384=)
NM_198428.3(BBS9):c.1182T>C (p.Asp394=)
NM_198428.3(BBS9):c.118del (p.Lys39_Ile40insTer)
NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter)
NM_198428.3(BBS9):c.1194A>G (p.Ser398=)
NM_198428.3(BBS9):c.1195C>T (p.Gln399Ter)
NM_198428.3(BBS9):c.1198+11T>C
NM_198428.3(BBS9):c.1198+12G>T
NM_198428.3(BBS9):c.1198+14A>T
NM_198428.3(BBS9):c.1198+15G>T
NM_198428.3(BBS9):c.1198+16C>G
NM_198428.3(BBS9):c.1198+9T>C
NM_198428.3(BBS9):c.1199-12T>C
NM_198428.3(BBS9):c.11T>A (p.Phe4Tyr) rs746345067
NM_198428.3(BBS9):c.11T>G (p.Phe4Cys) rs746345067
NM_198428.3(BBS9):c.1200T>C (p.Gly400=)
NM_198428.3(BBS9):c.1221A>G (p.Arg407=)
NM_198428.3(BBS9):c.1228G>T (p.Asp410Tyr) rs1000831388
NM_198428.3(BBS9):c.1245C>A (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1245C>G (p.Val415=)
NM_198428.3(BBS9):c.1249G>C (p.Val417Leu) rs751604593
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe) rs751604593
NM_198428.3(BBS9):c.1269A>G (p.Ser423=)
NM_198428.3(BBS9):c.1275+19T>A
NM_198428.3(BBS9):c.1275+1G>A
NM_198428.3(BBS9):c.1275+6T>G rs1816408545
NM_198428.3(BBS9):c.1276-10G>T
NM_198428.3(BBS9):c.1276-15del rs2128646892
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.1281G>A (p.Ala427=)
NM_198428.3(BBS9):c.1283_1286del (p.Thr428fs)
NM_198428.3(BBS9):c.1288G>A (p.Val430Ile)
NM_198428.3(BBS9):c.1302T>G (p.Thr434=) rs1173516747
NM_198428.3(BBS9):c.1305C>T (p.Asp435=) rs2128647066
NM_198428.3(BBS9):c.1308T>C (p.Leu436=) rs886043248
NM_198428.3(BBS9):c.1311C>G (p.Val437=)
NM_198428.3(BBS9):c.1323G>A (p.Thr441=)
NM_198428.3(BBS9):c.1329+11A>G
NM_198428.3(BBS9):c.1329+14T>A
NM_198428.3(BBS9):c.1329+1738C>T
NM_198428.3(BBS9):c.1329+9C>A rs747489914
NM_198428.3(BBS9):c.1330-10G>T
NM_198428.3(BBS9):c.1330-17A>G
NM_198428.3(BBS9):c.1330-18C>A rs547699537
NM_198428.3(BBS9):c.1330-18_1330-16del
NM_198428.3(BBS9):c.1330-19A>G
NM_198428.3(BBS9):c.1330-6C>T
NM_198428.3(BBS9):c.1330G>C (p.Val444Leu)
NM_198428.3(BBS9):c.1335A>C (p.Thr445=)
NM_198428.3(BBS9):c.1335A>G (p.Thr445=)
NM_198428.3(BBS9):c.1344C>T (p.Asn448=)
NM_198428.3(BBS9):c.1354T>C (p.Leu452=)
NM_198428.3(BBS9):c.1359A>G (p.Gln453=)
NM_198428.3(BBS9):c.1367A>G (p.Lys456Arg) rs2128661224
NM_198428.3(BBS9):c.136A>T (p.Met46Leu)
NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser) rs762511626
NM_198428.3(BBS9):c.1380C>T (p.Tyr460=)
NM_198428.3(BBS9):c.1386A>G (p.Gln462=)
NM_198428.3(BBS9):c.1389A>G (p.Pro463=)
NM_198428.3(BBS9):c.1398A>G (p.Glu466=)
NM_198428.3(BBS9):c.1399T>C (p.Leu467=)
NM_198428.3(BBS9):c.1410T>C (p.Asp470=)
NM_198428.3(BBS9):c.1413G>A (p.Gln471=)
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1425A>G (p.Glu475=)
NM_198428.3(BBS9):c.1426T>A (p.Phe476Ile)
NM_198428.3(BBS9):c.1432+12G>A
NM_198428.3(BBS9):c.1432+12G>C
NM_198428.3(BBS9):c.1432+2T>G
NM_198428.3(BBS9):c.1433-12C>A
NM_198428.3(BBS9):c.1433-19A>T
NM_198428.3(BBS9):c.1433-2A>G
NM_198428.3(BBS9):c.1433-9T>C
NM_198428.3(BBS9):c.1441T>C (p.Leu481=)
NM_198428.3(BBS9):c.1443G>A (p.Leu481=)
NM_198428.3(BBS9):c.144C>T (p.Tyr48=)
NM_198428.3(BBS9):c.1453G>C (p.Val485Leu)
NM_198428.3(BBS9):c.1466T>C (p.Val489Ala)
NM_198428.3(BBS9):c.1468del (p.Tyr490fs) rs1454474832
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter) rs2128667543
NM_198428.3(BBS9):c.1491A>G (p.Pro497=)
NM_198428.3(BBS9):c.1498T>C (p.Leu500=)
NM_198428.3(BBS9):c.1506A>C (p.Gly502=)
NM_198428.3(BBS9):c.1515T>C (p.Val505=)
NM_198428.3(BBS9):c.1531C>A (p.Pro511Thr)
NM_198428.3(BBS9):c.1532C>A (p.Pro511Gln) rs965817527
NM_198428.3(BBS9):c.1532C>G (p.Pro511Arg)
NM_198428.3(BBS9):c.1535C>T (p.Thr512Ile) rs886062286
NM_198428.3(BBS9):c.1537+12G>C
NM_198428.3(BBS9):c.1537+13dup
NM_198428.3(BBS9):c.1537+20C>A
NM_198428.3(BBS9):c.1537+20C>T
NM_198428.3(BBS9):c.1537+9A>G rs2128667783
NM_198428.3(BBS9):c.1538-13C>A
NM_198428.3(BBS9):c.1538-13C>T
NM_198428.3(BBS9):c.1538-17T>C
NM_198428.3(BBS9):c.1538-4A>G
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter) rs1401715737
NM_198428.3(BBS9):c.1544A>T (p.Asn515Ile)
NM_198428.3(BBS9):c.1547C>T (p.Pro516Leu)
NM_198428.3(BBS9):c.1552+17T>C
NM_198428.3(BBS9):c.1552+2T>A rs1563049863
NM_198428.3(BBS9):c.1552+5G>T
NM_198428.3(BBS9):c.1553-12C>G
NM_198428.3(BBS9):c.1553-14C>T
NM_198428.3(BBS9):c.1553-1G>A
NM_198428.3(BBS9):c.1553-20A>C
NM_198428.3(BBS9):c.1553-20A>G
NM_198428.3(BBS9):c.1553-8T>C
NM_198428.3(BBS9):c.1562G>C (p.Arg521Pro) rs34218557
NM_198428.3(BBS9):c.1575T>C (p.Cys525=)
NM_198428.3(BBS9):c.1582A>G (p.Arg528Gly)
NM_198428.3(BBS9):c.1586T>A (p.Leu529His)
NM_198428.3(BBS9):c.1591C>T (p.Leu531=)
NM_198428.3(BBS9):c.1596G>C (p.Lys532Asn)
NM_198428.3(BBS9):c.1599A>G (p.Leu533=)
NM_198428.3(BBS9):c.1608A>G (p.Leu536=)
NM_198428.3(BBS9):c.160C>A (p.Pro54Thr)
NM_198428.3(BBS9):c.1610C>T (p.Pro537Leu)
NM_198428.3(BBS9):c.1617G>A (p.Gln539=)
NM_198428.3(BBS9):c.1623A>G (p.Ser541=)
NM_198428.3(BBS9):c.1624A>T (p.Lys542Ter)
NM_198428.3(BBS9):c.1637A>G (p.His546Arg)
NM_198428.3(BBS9):c.1644T>A (p.Ile548=)
NM_198428.3(BBS9):c.1646C>G (p.Thr549Ser)
NM_198428.3(BBS9):c.165T>C (p.His55=)
NM_198428.3(BBS9):c.1670T>G (p.Val557Gly) rs1819942366
NM_198428.3(BBS9):c.1671C>T (p.Val557=)
NM_198428.3(BBS9):c.1674T>C (p.Ser558=)
NM_198428.3(BBS9):c.1691C>T (p.Pro564Leu)
NM_198428.3(BBS9):c.1693+4del rs2128687729
NM_198428.3(BBS9):c.1694-10T>C
NM_198428.3(BBS9):c.1694-2A>G
NM_198428.3(BBS9):c.1694-4G>A
NM_198428.3(BBS9):c.1694-4G>C
NM_198428.3(BBS9):c.1694-6T>G rs28622379
NM_198428.3(BBS9):c.1701C>G (p.Ala567=)
NM_198428.3(BBS9):c.1716T>C (p.Asp572=)
NM_198428.3(BBS9):c.1725G>C (p.Val575=)
NM_198428.3(BBS9):c.1725G>T (p.Val575=)
NM_198428.3(BBS9):c.1743C>T (p.His581=)
NM_198428.3(BBS9):c.1749A>G (p.Leu583=) rs1822081249
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123
NM_198428.3(BBS9):c.1760_1764del (p.Arg587fs)
NM_198428.3(BBS9):c.1767T>C (p.Thr589=) rs534722075
NM_198428.3(BBS9):c.176C>A (p.Thr59Lys) rs749727731
NM_198428.3(BBS9):c.1773T>C (p.Leu591=)
NM_198428.3(BBS9):c.1775C>G (p.Ala592Gly)
NM_198428.3(BBS9):c.1776T>G (p.Ala592=) rs2128714393
NM_198428.3(BBS9):c.1779C>T (p.Ser593=)
NM_198428.3(BBS9):c.177A>G (p.Thr59=)
NM_198428.3(BBS9):c.1786T>G (p.Ser596Ala)
NM_198428.3(BBS9):c.1789+12C>A
NM_198428.3(BBS9):c.1789+15G>C
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1789+1G>C
NM_198428.3(BBS9):c.1789+1G>T rs201938124
NM_198428.3(BBS9):c.1789+5G>T rs2128714437
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) rs948418225
NM_198428.3(BBS9):c.1790-1091A>G
NM_198428.3(BBS9):c.1790-13T>A
NM_198428.3(BBS9):c.1790-16A>C
NM_198428.3(BBS9):c.1790-17T>C rs765367261
NM_198428.3(BBS9):c.1790-18T>A rs2128748428
NM_198428.3(BBS9):c.1790-19C>T
NM_198428.3(BBS9):c.1790-20C>G
NM_198428.3(BBS9):c.1790-3C>T
NM_198428.3(BBS9):c.1790-7C>A
NM_198428.3(BBS9):c.1790-8del
NM_198428.3(BBS9):c.1790-8dup
NM_198428.3(BBS9):c.1793G>A (p.Arg598Gln)
NM_198428.3(BBS9):c.1794A>T (p.Arg598=)
NM_198428.3(BBS9):c.1799G>A (p.Arg600His) rs749018243
NM_198428.3(BBS9):c.1799G>T (p.Arg600Leu)
NM_198428.3(BBS9):c.1808G>C (p.Ser603Thr) rs1584588488
NM_198428.3(BBS9):c.1809T>C (p.Ser603=)
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1824T>C (p.Asp608=)
NM_198428.3(BBS9):c.1833C>T (p.Leu611=)
NM_198428.3(BBS9):c.1841A>G (p.Asn614Ser) rs1825501129
NM_198428.3(BBS9):c.1843G>A (p.Glu615Lys) rs993175361
NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly) rs370925964
NM_198428.3(BBS9):c.1845G>A (p.Glu615=)
NM_198428.3(BBS9):c.1860T>A (p.Leu620=)
NM_198428.3(BBS9):c.1863A>G (p.Gln621=)
NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter)
NM_198428.3(BBS9):c.1870_1872del (p.Phe624del) rs1302171532
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.1884A>G (p.Gly628=)
NM_198428.3(BBS9):c.1893T>C (p.Asp631=)
NM_198428.3(BBS9):c.1899A>G (p.Ala633=)
NM_198428.3(BBS9):c.18C>T (p.Ala6=)
NM_198428.3(BBS9):c.1902T>C (p.Cys634=)
NM_198428.3(BBS9):c.1923C>A (p.Pro641=) rs886062287
NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter)
NM_198428.3(BBS9):c.1928A>G (p.Gln643Arg) rs1048014676
NM_198428.3(BBS9):c.1937T>C (p.Phe646Ser)
NM_198428.3(BBS9):c.1951C>G (p.His651Asp)
NM_198428.3(BBS9):c.195C>A (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter)
NM_198428.3(BBS9):c.1962+11T>C
NM_198428.3(BBS9):c.1962+17C>T
NM_198428.3(BBS9):c.1962+18C>A
NM_198428.3(BBS9):c.1962+18C>G
NM_198428.3(BBS9):c.1962+3A>T rs1017765966
NM_198428.3(BBS9):c.1962+9G>A
NM_198428.3(BBS9):c.1963-10T>C
NM_198428.3(BBS9):c.1963-15A>G
NM_198428.3(BBS9):c.1963-18A>C
NM_198428.3(BBS9):c.1963-1G>T
NM_198428.3(BBS9):c.1963-4G>A
NM_198428.3(BBS9):c.1963-6T>C rs769047017
NM_198428.3(BBS9):c.1963-8C>A
NM_198428.3(BBS9):c.1966C>T (p.Arg656Trp)
NM_198428.3(BBS9):c.1968G>C (p.Arg656=)
NM_198428.3(BBS9):c.196G>A (p.Glu66Lys)
NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)
NM_198428.3(BBS9):c.198A>G (p.Glu66=)
NM_198428.3(BBS9):c.1992A>C (p.Glu664Asp) rs2128756476
NM_198428.3(BBS9):c.1999_2003del (p.Ser667fs)
NM_198428.3(BBS9):c.19C>A (p.Arg7Ser)
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys) rs184994140
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs) rs1266192229
NM_198428.3(BBS9):c.2009C>T (p.Ala670Val)
NM_198428.3(BBS9):c.2016A>G (p.Gln672=) rs2128756519
NM_198428.3(BBS9):c.201T>C (p.Asp67=)
NM_198428.3(BBS9):c.2021G>A (p.Arg674Gln)
NM_198428.3(BBS9):c.2023del (p.Ala675fs)
NM_198428.3(BBS9):c.2027T>C (p.Ile676Thr)
NM_198428.3(BBS9):c.2031A>G (p.Gln677=)
NM_198428.3(BBS9):c.2034C>T (p.Arg678=)
NM_198428.3(BBS9):c.2035C>T (p.Arg679Trp) rs749841788
NM_198428.3(BBS9):c.2037G>A (p.Arg679=) rs774728969
NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr) rs772347593
NM_198428.3(BBS9):c.2045dup (p.Arg683fs) rs587777810
NM_198428.3(BBS9):c.206T>C (p.Leu69Pro) rs771129780
NM_198428.3(BBS9):c.2070_2071delinsTA (p.Pro691Thr)
NM_198428.3(BBS9):c.207T>C (p.Leu69=)
NM_198428.3(BBS9):c.2080C>T (p.His694Tyr) rs2128756856
NM_198428.3(BBS9):c.2082C>T (p.His694=)
NM_198428.3(BBS9):c.2094G>A (p.Leu698=)
NM_198428.3(BBS9):c.2097dup (p.Asp700fs) rs2128756914
NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn) rs1274816953
NM_198428.3(BBS9):c.20G>A (p.Arg7His) rs746340993
NM_198428.3(BBS9):c.20G>C (p.Arg7Pro) rs746340993
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu) rs746340993
NM_198428.3(BBS9):c.2100T>C (p.Asp700=) rs1826369751
NM_198428.3(BBS9):c.2101G>A (p.Gly701Arg)
NM_198428.3(BBS9):c.2106C>G (p.Thr702=)
NM_198428.3(BBS9):c.2108A>G (p.Tyr703Cys)
NM_198428.3(BBS9):c.2113C>T (p.Gln705Ter)
NM_198428.3(BBS9):c.2115+12A>G
NM_198428.3(BBS9):c.2115+15A>C
NM_198428.3(BBS9):c.2115+17dup rs1826376756
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.2115+20_2115+21del
NM_198428.3(BBS9):c.2115+9A>G
NM_198428.3(BBS9):c.2116-12dup
NM_198428.3(BBS9):c.2116-13G>C
NM_198428.3(BBS9):c.2116-15T>C rs1846018417
NM_198428.3(BBS9):c.2116-17G>A
NM_198428.3(BBS9):c.2116-20G>T
NM_198428.3(BBS9):c.2116-2A>T
NM_198428.3(BBS9):c.2120T>C (p.Ile707Thr)
NM_198428.3(BBS9):c.2134G>A (p.Ala712Thr)
NM_198428.3(BBS9):c.213A>G (p.Glu71=)
NM_198428.3(BBS9):c.214G>A (p.Val72Met) rs765240871
NM_198428.3(BBS9):c.2169A>G (p.Ser723=)
NM_198428.3(BBS9):c.2179C>T (p.Leu727=) rs373177157
NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn) rs1393453305
NM_198428.3(BBS9):c.2190C>T (p.Ala730=)
NM_198428.3(BBS9):c.2193C>T (p.Thr731=)
NM_198428.3(BBS9):c.2217G>A (p.Ala739=) rs749322793
NM_198428.3(BBS9):c.2217G>T (p.Ala739=) rs749322793
NM_198428.3(BBS9):c.2223_2224delinsTT (p.Trp741_Gln742delinsCysTer)
NM_198428.3(BBS9):c.222A>G (p.Leu74=)
NM_198428.3(BBS9):c.2244G>A (p.Gln748=)
NM_198428.3(BBS9):c.2245G>C (p.Val749Leu) rs1563271285
NM_198428.3(BBS9):c.2245_2260del (p.Val749fs)
NM_198428.3(BBS9):c.2247T>C (p.Val749=)
NM_198428.3(BBS9):c.2250T>C (p.Ala750=)
NM_198428.3(BBS9):c.2261C>T (p.Ala754Val)
NM_198428.3(BBS9):c.2262G>A (p.Ala754=) rs751886707
NM_198428.3(BBS9):c.2271G>C (p.Leu757=) rs2129016290
NM_198428.3(BBS9):c.2277A>G (p.Leu759=) rs1052268884
NM_198428.3(BBS9):c.228T>C (p.Asp76=)
NM_198428.3(BBS9):c.2298+16C>T
NM_198428.3(BBS9):c.2298+5G>A rs1846053369
NM_198428.3(BBS9):c.2298+8C>A rs2129016313
NM_198428.3(BBS9):c.2299-12T>C
NM_198428.3(BBS9):c.2299-14G>C
NM_198428.3(BBS9):c.2299-19A>G
NM_198428.3(BBS9):c.2299-2A>C
NM_198428.3(BBS9):c.2299-4C>G
NM_198428.3(BBS9):c.2310A>G (p.Glu770=)
NM_198428.3(BBS9):c.2312C>T (p.Thr771Met)
NM_198428.3(BBS9):c.2331C>T (p.Ser777=)
NM_198428.3(BBS9):c.2337G>A (p.Leu779=) rs2129059212
NM_198428.3(BBS9):c.2346T>C (p.Thr782=)
NM_198428.3(BBS9):c.2355G>A (p.Ser785=) rs1403362656
NM_198428.3(BBS9):c.2355G>C (p.Ser785=) rs1403362656
NM_198428.3(BBS9):c.2355G>T (p.Ser785=)
NM_198428.3(BBS9):c.2357_2359del (p.Lys786del)
NM_198428.3(BBS9):c.2358G>C (p.Lys786Asn)
NM_198428.3(BBS9):c.2368G>T (p.Glu790Ter)
NM_198428.3(BBS9):c.2370G>T (p.Glu790Asp)
NM_198428.3(BBS9):c.2376T>G (p.Ala792=)
NM_198428.3(BBS9):c.2385_2396del (p.Ser797_Asn800del)
NM_198428.3(BBS9):c.2388C>T (p.Asn796=)
NM_198428.3(BBS9):c.2391C>T (p.Ser797=)
NM_198428.3(BBS9):c.2397G>A (p.Leu799=)
NM_198428.3(BBS9):c.2404C>T (p.Pro802Ser) rs886062288
NM_198428.3(BBS9):c.2412C>T (p.Asp804=)
NM_198428.3(BBS9):c.2412_2415dup (p.Ser806fs)
NM_198428.3(BBS9):c.2421A>G (p.Gln807=)
NM_198428.3(BBS9):c.2439C>A (p.Thr813=)
NM_198428.3(BBS9):c.2445C>T (p.Leu815=)
NM_198428.3(BBS9):c.244del (p.Glu82fs) rs2128108391
NM_198428.3(BBS9):c.2462A>C (p.Lys821Thr) rs1851006563
NM_198428.3(BBS9):c.2463A>G (p.Lys821=)
NM_198428.3(BBS9):c.2481A>G (p.Leu827=)
NM_198428.3(BBS9):c.2487C>A (p.Thr829=)
NM_198428.3(BBS9):c.2489A>G (p.Asp830Gly)
NM_198428.3(BBS9):c.2494G>C (p.Ala832Pro)
NM_198428.3(BBS9):c.2499C>T (p.Ala833=) rs1163398668
NM_198428.3(BBS9):c.249A>C (p.Val83=)
NM_198428.3(BBS9):c.2503_2504dup (p.Gln835fs)
NM_198428.3(BBS9):c.2505G>A (p.Gln835=)
NM_198428.3(BBS9):c.2511G>T (p.Met837Ile)
NM_198428.3(BBS9):c.2518C>T (p.Pro840Ser)
NM_198428.3(BBS9):c.251G>A (p.Gly84Glu) rs766917697
NM_198428.3(BBS9):c.2521+11dup
NM_198428.3(BBS9):c.2521+16A>C
NM_198428.3(BBS9):c.2521+19C>G
NM_198428.3(BBS9):c.2521+1G>T
NM_198428.3(BBS9):c.2521+20T>C
NM_198428.3(BBS9):c.2521+951G>T
NM_198428.3(BBS9):c.2522-13A>C
NM_198428.3(BBS9):c.2522-15G>C
NM_198428.3(BBS9):c.2522-3T>C
NM_198428.3(BBS9):c.2522-5A>G rs2129207620
NM_198428.3(BBS9):c.2522-7C>A
NM_198428.3(BBS9):c.2522-7del
NM_198428.3(BBS9):c.2527T>C (p.Cys843Arg)
NM_198428.3(BBS9):c.2534C>G (p.Thr845Arg) rs2129207675
NM_198428.3(BBS9):c.2536del (p.Ile846fs) rs1864348159
NM_198428.3(BBS9):c.253A>C (p.Lys85Gln)
NM_198428.3(BBS9):c.2550C>T (p.Asp850=)
NM_198428.3(BBS9):c.2559_2562del (p.Glu853fs)
NM_198428.3(BBS9):c.2562A>G (p.Arg854=)
NM_198428.3(BBS9):c.2565A>G (p.Ser855=)
NM_198428.3(BBS9):c.2581A>T (p.Thr861Ser) rs1864358642
NM_198428.3(BBS9):c.2588T>A (p.Leu863Gln)
NM_198428.3(BBS9):c.2591T>G (p.Phe864Cys) rs1490049568
NM_198428.3(BBS9):c.2594C>T (p.Thr865Ile)
NM_198428.3(BBS9):c.259G>A (p.Val87Ile) rs1255605179
NM_198428.3(BBS9):c.2604A>C (p.Arg868Ser)
NM_198428.3(BBS9):c.261T>G (p.Val87=) rs2128108429
NM_198428.3(BBS9):c.2623C>A (p.Pro875Thr) rs755911247
NM_198428.3(BBS9):c.2625C>T (p.Pro875=)
NM_198428.3(BBS9):c.2626A>C (p.Arg876=)
NM_198428.3(BBS9):c.2628G>A (p.Arg876=)
NM_198428.3(BBS9):c.263+13A>G
NM_198428.3(BBS9):c.263+16A>G
NM_198428.3(BBS9):c.263+1G>T rs137962929
NM_198428.3(BBS9):c.263+4A>G rs370916293
NM_198428.3(BBS9):c.2631del (p.Glu878fs) rs1401159616
NM_198428.3(BBS9):c.2632+10del
NM_198428.3(BBS9):c.2632+13A>T
NM_198428.3(BBS9):c.2632+8A>C
NM_198428.3(BBS9):c.2633-11T>C
NM_198428.3(BBS9):c.2633-16C>T
NM_198428.3(BBS9):c.2633-16CT[2]
NM_198428.3(BBS9):c.2633-2A>G rs1864417554
NM_198428.3(BBS9):c.2633-3C>G rs1422030068
NM_198428.3(BBS9):c.2633-5T>C
NM_198428.3(BBS9):c.2633-5dup rs761809109
NM_198428.3(BBS9):c.2633-6T>C rs2129208551
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198428.3(BBS9):c.264-10T>C
NM_198428.3(BBS9):c.264-11C>G
NM_198428.3(BBS9):c.264-11_264-10del
NM_198428.3(BBS9):c.264-12T>G
NM_198428.3(BBS9):c.264-14T>C
NM_198428.3(BBS9):c.264-14T>G rs759013829
NM_198428.3(BBS9):c.264-16T>G
NM_198428.3(BBS9):c.264-4T>C
NM_198428.3(BBS9):c.2642C>G (p.Pro881Arg)
NM_198428.3(BBS9):c.2642C>T (p.Pro881Leu)
NM_198428.3(BBS9):c.2643C>T (p.Pro881=) rs2129208595
NM_198428.3(BBS9):c.2646C>T (p.Leu882=)
NM_198428.3(BBS9):c.2648A>G (p.Gln883Arg) rs967703053
NM_198428.3(BBS9):c.279A>G (p.Leu93=)
NM_198428.3(BBS9):c.27G>A (p.Trp9Ter)
NM_198428.3(BBS9):c.27G>C (p.Trp9Cys)
NM_198428.3(BBS9):c.292_328+3delinsAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.315C>G (p.Val105=) rs1051716854
NM_198428.3(BBS9):c.319dup (p.Ser107fs)
NM_198428.3(BBS9):c.321T>G (p.Ser107=) rs2128114803
NM_198428.3(BBS9):c.324C>A (p.Val108=)
NM_198428.3(BBS9):c.328+11T>C rs1793997816
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTNNNNNNNNNNAGACAACTGGTTAGCCAGGATGGTCTCGTTCGCGGGTACTCCAGATCCACCCGCCTCTGACTCCCAACGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCCAGAAATATTTTT rs2128114877
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTGAG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+16A>C rs749205665
NM_198428.3(BBS9):c.328+16_328+27del rs770155616
NM_198428.3(BBS9):c.328+20A>G
NM_198428.3(BBS9):c.328+7A>T
NM_198428.3(BBS9):c.328G>A (p.Gly110Arg)
NM_198428.3(BBS9):c.329-13T>C
NM_198428.3(BBS9):c.329-19C>T
NM_198428.3(BBS9):c.329-19_329-17del
NM_198428.3(BBS9):c.329-5del rs1797490601
NM_198428.3(BBS9):c.329-6C>T rs1445078208
NM_198428.3(BBS9):c.329-7T>C rs976567513
NM_198428.3(BBS9):c.329-7del rs753552530
NM_198428.3(BBS9):c.329-7dup rs753552530
NM_198428.3(BBS9):c.329-8T>C
NM_198428.3(BBS9):c.341A>G (p.Asn114Ser) rs1797497751
NM_198428.3(BBS9):c.342T>C (p.Asn114=)
NM_198428.3(BBS9):c.349C>T (p.His117Tyr)
NM_198428.3(BBS9):c.358C>T (p.Gln120Ter)
NM_198428.3(BBS9):c.360del (p.Gln120fs)
NM_198428.3(BBS9):c.36T>C (p.Thr12=)
NM_198428.3(BBS9):c.377T>C (p.Met126Thr) rs2128162902
NM_198428.3(BBS9):c.381T>C (p.Tyr127=)
NM_198428.3(BBS9):c.385C>T (p.His129Tyr) rs886062284
NM_198428.3(BBS9):c.396G>A (p.Gln132=)
NM_198428.3(BBS9):c.396G>C (p.Gln132His) rs10255104
NM_198428.3(BBS9):c.397A>C (p.Arg133=)
NM_198428.3(BBS9):c.402A>G (p.Thr134=) rs2128163033
NM_198428.3(BBS9):c.408C>A (p.Cys136Ter)
NM_198428.3(BBS9):c.412A>G (p.Met138Val)
NM_198428.3(BBS9):c.417C>T (p.Thr139=)
NM_198428.3(BBS9):c.421G>A (p.Gly141Arg) rs137852857
NM_198428.3(BBS9):c.434del (p.Gly145fs)
NM_198428.3(BBS9):c.438A>T (p.Val146=)
NM_198428.3(BBS9):c.442+13dup
NM_198428.3(BBS9):c.442+16T>A
NM_198428.3(BBS9):c.442+19T>C
NM_198428.3(BBS9):c.442+7T>G rs1470563544
NM_198428.3(BBS9):c.443-17C>A
NM_198428.3(BBS9):c.443-20T>C
NM_198428.3(BBS9):c.443-37371A>G
NM_198428.3(BBS9):c.443-6_443-4del
NM_198428.3(BBS9):c.443-8T>C
NM_198428.3(BBS9):c.450T>A (p.Asp150Glu) rs2128312333
NM_198428.3(BBS9):c.455T>C (p.Ile152Thr)
NM_198428.3(BBS9):c.456T>C (p.Ile152=)
NM_198428.3(BBS9):c.459C>A (p.Cys153Ter)
NM_198428.3(BBS9):c.459C>T (p.Cys153=)
NM_198428.3(BBS9):c.477G>C (p.Gly159=)
NM_198428.3(BBS9):c.485T>C (p.Met162Thr) rs1797227483
NM_198428.3(BBS9):c.496C>T (p.Gln166Ter)
NM_198428.3(BBS9):c.498G>A (p.Gln166=)
NM_198428.3(BBS9):c.49_51del (p.Lys17del) rs1562672388
NM_198428.3(BBS9):c.509C>A (p.Ala170Asp)
NM_198428.3(BBS9):c.525C>T (p.Leu175=)
NM_198428.3(BBS9):c.527C>G (p.Pro176Arg)
NM_198428.3(BBS9):c.528T>C (p.Pro176=)
NM_198428.3(BBS9):c.529G>T (p.Gly177Cys) rs750278720
NM_198428.3(BBS9):c.531C>A (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.531C>T (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.540G>A (p.Leu180=)
NM_198428.3(BBS9):c.540G>T (p.Leu180=)
NM_198428.3(BBS9):c.542C>G (p.Pro181Arg) rs779588488
NM_198428.3(BBS9):c.544G>T (p.Gly182Cys) rs946999139
NM_198428.3(BBS9):c.548C>T (p.Pro183Leu)
NM_198428.3(BBS9):c.555C>G (p.Ala185=) rs35440033
NM_198428.3(BBS9):c.557A>G (p.Tyr186Cys)
NM_198428.3(BBS9):c.563C>T (p.Ser188Phe) rs2128312652
NM_198428.3(BBS9):c.564C>T (p.Ser188=)
NM_198428.3(BBS9):c.570A>G (p.Thr190=)
NM_198428.3(BBS9):c.579C>T (p.Phe193=)
NM_198428.3(BBS9):c.580C>T (p.Leu194Phe) rs1797251379
NM_198428.3(BBS9):c.594C>T (p.Ser198=)
NM_198428.3(BBS9):c.606G>A (p.Val202=)
NM_198428.3(BBS9):c.60T>A (p.Phe20Leu)
NM_198428.3(BBS9):c.614A>T (p.Tyr205Phe)
NM_198428.3(BBS9):c.617+11A>T
NM_198428.3(BBS9):c.617+13G>A
NM_198428.3(BBS9):c.617+17A>C
NM_198428.3(BBS9):c.617+7T>C
NM_198428.3(BBS9):c.618-14T>C
NM_198428.3(BBS9):c.618-17A>T
NM_198428.3(BBS9):c.618-18T>A
NM_198428.3(BBS9):c.618-3C>G rs1460288162
NM_198428.3(BBS9):c.618-4A>G
NM_198428.3(BBS9):c.61G>C (p.Asp21His)
NM_198428.3(BBS9):c.621_702+3del
NM_198428.3(BBS9):c.624G>A (p.Gln208=)
NM_198428.3(BBS9):c.625G>T (p.Val209Leu)
NM_198428.3(BBS9):c.628C>A (p.Leu210Ile)
NM_198428.3(BBS9):c.644A>T (p.Asp215Val)
NM_198428.3(BBS9):c.657G>T (p.Arg219Ser) rs1307359911
NM_198428.3(BBS9):c.660G>A (p.Gln220=)
NM_198428.3(BBS9):c.660_674del (p.Glu221_Gln225del) rs1562901016
NM_198428.3(BBS9):c.663G>A (p.Glu221=)
NM_198428.3(BBS9):c.675A>G (p.Gln225=)
NM_198428.3(BBS9):c.677A>C (p.Lys226Thr) rs1562901214
NM_198428.3(BBS9):c.681T>C (p.Leu227=)
NM_198428.3(BBS9):c.687T>G (p.Ser229=)
NM_198428.3(BBS9):c.688G>A (p.Gly230Arg) rs1798450904
NM_198428.3(BBS9):c.692A>T (p.Lys231Ile)
NM_198428.3(BBS9):c.699A>C (p.Leu233=) rs1326295377
NM_198428.3(BBS9):c.702+10T>C
NM_198428.3(BBS9):c.702+13T>C
NM_198428.3(BBS9):c.702+15dup rs756949696
NM_198428.3(BBS9):c.702+16A>G
NM_198428.3(BBS9):c.702+18T>C
NM_198428.3(BBS9):c.702+1G>A rs2128325966
NM_198428.3(BBS9):c.702+1G>T
NM_198428.3(BBS9):c.702+20T>C rs756668480
NM_198428.3(BBS9):c.702T>A (p.Val234=) rs1373479665
NM_198428.3(BBS9):c.703-14G>A
NM_198428.3(BBS9):c.703-17T>C
NM_198428.3(BBS9):c.703-18T>C
NM_198428.3(BBS9):c.703-19A>G
NM_198428.3(BBS9):c.703-1G>C
NM_198428.3(BBS9):c.703-2A>G
NM_198428.3(BBS9):c.705G>A (p.Val235=)
NM_198428.3(BBS9):c.71G>A (p.Cys24Tyr) rs1792335317
NM_198428.3(BBS9):c.727G>A (p.Glu243Lys) rs1562917450
NM_198428.3(BBS9):c.742A>C (p.Ile248Leu) rs577724923
NM_198428.3(BBS9):c.745T>C (p.Cys249Arg)
NM_198428.3(BBS9):c.746G>A (p.Cys249Tyr) rs772441123
NM_198428.3(BBS9):c.751dup (p.Val251fs) rs2128344662
NM_198428.3(BBS9):c.753C>T (p.Val251=) rs2128344695
NM_198428.3(BBS9):c.754del (p.Ser252fs) rs2128344706
NM_198428.3(BBS9):c.755C>T (p.Ser252Phe)
NM_198428.3(BBS9):c.763C>T (p.Gln255Ter)
NM_198428.3(BBS9):c.767C>G (p.Ser256Trp) rs149790873
NM_198428.3(BBS9):c.768G>A (p.Ser256=)
NM_198428.3(BBS9):c.778G>A (p.Val260Ile) rs149093988
NM_198428.3(BBS9):c.778G>T (p.Val260Phe) rs149093988
NM_198428.3(BBS9):c.785T>C (p.Val262Ala) rs886039875
NM_198428.3(BBS9):c.786T>A (p.Val262=)
NM_198428.3(BBS9):c.793G>T (p.Glu265Ter)
NM_198428.3(BBS9):c.794A>G (p.Glu265Gly)
NM_198428.3(BBS9):c.801_803del (p.Phe269del) rs780367770
NM_198428.3(BBS9):c.802T>A (p.Phe268Ile) rs939805930
NM_198428.3(BBS9):c.808dup (p.Cys270fs)
NM_198428.3(BBS9):c.825A>G (p.Gly275=)
NM_198428.3(BBS9):c.828A>G (p.Gln276=)
NM_198428.3(BBS9):c.829del (p.Ile277fs)
NM_198428.3(BBS9):c.831T>G (p.Ile277Met) rs1800123284
NM_198428.3(BBS9):c.834A>G (p.Arg278=)
NM_198428.3(BBS9):c.839dup (p.Met280fs)
NM_198428.3(BBS9):c.83C>T (p.Ala28Val) rs1792337794
NM_198428.3(BBS9):c.850G>T (p.Asp284Tyr) rs1800127011
NM_198428.3(BBS9):c.852T>C (p.Asp284=) rs2128345148
NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer) rs2128345173
NM_198428.3(BBS9):c.858C>G (p.Ser286Arg)
NM_198428.3(BBS9):c.858C>T (p.Ser286=)
NM_198428.3(BBS9):c.861A>C (p.Pro287=)
NM_198428.3(BBS9):c.861A>G (p.Pro287=)
NM_198428.3(BBS9):c.863G>C (p.Ser288Thr) rs2128345247
NM_198428.3(BBS9):c.886+11A>G
NM_198428.3(BBS9):c.886+11dup rs2128345419
NM_198428.3(BBS9):c.886+12G>A
NM_198428.3(BBS9):c.886+12G>T
NM_198428.3(BBS9):c.886+17del rs774382014
NM_198428.3(BBS9):c.886+19T>C
NM_198428.3(BBS9):c.886+4T>A rs542391272
NM_198428.3(BBS9):c.886+7A>G
NM_198428.3(BBS9):c.886+7_886+8insAAA rs768793235
NM_198428.3(BBS9):c.886+8G>A rs745781708
NM_198428.3(BBS9):c.886+9A>G
NM_198428.3(BBS9):c.887-15A>C
NM_198428.3(BBS9):c.887-16T>C
NM_198428.3(BBS9):c.887-17G>A
NM_198428.3(BBS9):c.936G>A (p.Leu312=)
NM_198428.3(BBS9):c.936G>T (p.Leu312=)
NM_198428.3(BBS9):c.938A>C (p.His313Pro) rs533714503
NM_198428.3(BBS9):c.940A>G (p.Ile314Val)
NM_198428.3(BBS9):c.948A>G (p.Gln316=)
NM_198428.3(BBS9):c.956del (p.Thr319fs) rs886039799
NM_198428.3(BBS9):c.957A>G (p.Thr319=)
NM_198428.3(BBS9):c.962A>G (p.Lys321Arg)
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
NM_198428.3(BBS9):c.969C>T (p.Ala323=)
NM_198428.3(BBS9):c.990T>C (p.Pro330=)
NM_198428.3(BBS9):c.998_999insTT (p.Val333_Arg334insTer)
NM_198428.3(BBS9):c.9A>G (p.Leu3=)

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