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)
|
|
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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=)
|
|
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NM_198428.3(BBS9):c.579C>T (p.Phe193=)
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|
|
NM_198428.3(BBS9):c.580C>T (p.Leu194Phe)
|
rs1797251379
|
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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)
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|
NM_198428.3(BBS9):c.614A>T (p.Tyr205Phe)
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|
|
NM_198428.3(BBS9):c.617+11A>T
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NM_198428.3(BBS9):c.617+13G>A
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NM_198428.3(BBS9):c.617+17A>C
|
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NM_198428.3(BBS9):c.617+7T>C
|
|
|
NM_198428.3(BBS9):c.618-14T>C
|
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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=)
|
|
|