|
NM_033028.5(BBS4):c.906T>C (p.Phe302=)
|
rs12914333
|
0.95849
|
|
NM_033028.5(BBS4):c.1036+114G>A
|
rs9806635
|
0.95845
|
|
NM_033028.5(BBS4):c.1248+68G>A
|
rs12324395
|
0.95651
|
|
NM_033028.5(BBS4):c.77-6G>A
|
rs8033604
|
0.94438
|
|
NM_033028.5(BBS4):c.76+19G>T
|
rs4777527
|
0.94399
|
|
NM_033028.5(BBS4):c.643-102T>C
|
rs6495015
|
0.54330
|
|
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)
|
rs2277598
|
0.52665
|
|
NM_033028.5(BBS4):c.1451-45T>C
|
rs75847960
|
0.08550
|
|
NM_033028.5(BBS4):c.-17C>T
|
rs56368716
|
0.06844
|
|
NM_033028.4(BBS4):c.-38C>A
|
rs11637927
|
0.04836
|
|
NM_033028.5(BBS4):c.906= (p.Phe302=)
|
rs12914333
|
0.04151
|
|
NM_033028.5(BBS4):c.405+17C>T
|
rs80334351
|
0.02539
|
|
NM_033028.5(BBS4):c.*1G>C
|
rs113678046
|
0.01165
|
|
NM_033028.5(BBS4):c.712-17C>G
|
rs150754122
|
0.01051
|
|
NM_033028.5(BBS4):c.180A>G (p.Gln60=)
|
rs114434361
|
0.00852
|
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
|
NM_033028.5(BBS4):c.*611C>T
|
rs41277724
|
0.00586
|
|
NM_033028.5(BBS4):c.1106+20T>C
|
rs145968663
|
0.00461
|
|
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg)
|
rs34620165
|
0.00458
|
|
NM_033028.5(BBS4):c.*43G>T
|
rs144706746
|
0.00421
|
|
NM_033028.5(BBS4):c.332+27dup
|
rs558055315
|
0.00243
|
|
NM_033028.5(BBS4):c.*737T>C
|
rs572076143
|
0.00176
|
|
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser)
|
rs151164191
|
0.00134
|
|
NM_033028.5(BBS4):c.208A>G (p.Ile70Val)
|
rs142692981
|
0.00118
|
|
NM_033028.5(BBS4):c.*157C>G
|
rs149263274
|
0.00108
|
|
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)
|
rs150395094
|
0.00096
|
|
NM_033028.5(BBS4):c.*200C>T
|
rs191015723
|
0.00083
|
|
NM_033028.5(BBS4):c.*691G>A
|
rs192812230
|
0.00074
|
|
NM_033028.5(BBS4):c.-14T>A
|
rs146238636
|
0.00073
|
|
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)
|
rs147202164
|
0.00063
|
|
NM_033028.5(BBS4):c.514A>G (p.Ile172Val)
|
rs145265395
|
0.00063
|
|
NM_033028.5(BBS4):c.*36G>A
|
rs376830638
|
0.00050
|
|
NM_033028.5(BBS4):c.460-20T>C
|
rs200203402
|
0.00048
|
|
NM_033028.5(BBS4):c.157-19A>G
|
rs373166573
|
0.00046
|
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
|
NM_033028.5(BBS4):c.1140G>A (p.Val380=)
|
rs141511580
|
0.00036
|
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
|
NM_033028.5(BBS4):c.24+18C>G
|
rs368789560
|
0.00034
|
|
NM_033028.5(BBS4):c.*498T>C
|
rs187276976
|
0.00029
|
|
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)
|
rs150706579
|
0.00029
|
|
NM_033028.5(BBS4):c.*65G>A
|
rs576340233
|
0.00027
|
|
NM_033028.5(BBS4):c.459+14G>C
|
rs200810799
|
0.00024
|
|
NM_033028.5(BBS4):c.1107-14T>G
|
rs185052338
|
0.00022
|
|
NM_033028.5(BBS4):c.864G>A (p.Ala288=)
|
rs141345544
|
0.00022
|
|
NM_033028.5(BBS4):c.*783A>G
|
rs775532255
|
0.00020
|
|
NM_033028.5(BBS4):c.1107-11G>C
|
rs373344695
|
0.00020
|
|
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe)
|
rs760909426
|
0.00020
|
|
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly)
|
rs148843256
|
0.00019
|
|
NM_033028.5(BBS4):c.1440G>A (p.Thr480=)
|
rs148682268
|
0.00017
|
|
NM_033028.5(BBS4):c.1036+6A>G
|
rs374383864
|
0.00016
|
|
NM_033028.5(BBS4):c.1136C>T (p.Ala379Val)
|
rs147269475
|
0.00016
|
|
NM_033028.5(BBS4):c.1215C>G (p.Leu405=)
|
rs3759869
|
0.00015
|
|
NM_033028.5(BBS4):c.*770C>T
|
rs777872738
|
0.00014
|
|
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs)
|
rs398124432
|
0.00014
|
|
NM_033028.5(BBS4):c.587+12T>C
|
rs371519164
|
0.00013
|
|
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp)
|
rs727503820
|
0.00013
|
|
NM_033028.5(BBS4):c.24+6C>T
|
rs1427489194
|
0.00012
|
|
NM_033028.5(BBS4):c.372T>C (p.Tyr124=)
|
rs141903251
|
0.00012
|
|
NM_033028.5(BBS4):c.513T>C (p.Tyr171=)
|
rs367882912
|
0.00012
|
|
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs)
|
rs748758201
|
0.00011
|
|
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)
|
rs144696430
|
0.00009
|
|
NM_033028.5(BBS4):c.405+7A>G
|
rs778651927
|
0.00007
|
|
NM_033028.5(BBS4):c.1083C>T (p.Tyr361=)
|
rs749282837
|
0.00006
|
|
NM_033028.5(BBS4):c.1107-7G>A
|
rs766664389
|
0.00006
|
|
NM_033028.5(BBS4):c.1114C>T (p.Pro372Ser)
|
rs375558008
|
0.00006
|
|
NM_033028.5(BBS4):c.1440dup (p.Leu481fs)
|
rs780269741
|
0.00006
|
|
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)
|
rs769886837
|
0.00006
|
|
NM_033028.5(BBS4):c.639A>G (p.Leu213=)
|
rs149663241
|
0.00006
|
|
NM_033028.5(BBS4):c.643-6T>C
|
rs753675755
|
0.00006
|
|
NM_033028.5(BBS4):c.*885T>C
|
rs753912948
|
0.00005
|
|
NM_033028.5(BBS4):c.1158C>T (p.Gly386=)
|
rs1057402744
|
0.00005
|
|
NM_033028.5(BBS4):c.1170C>T (p.Asn390=)
|
rs376378002
|
0.00005
|
|
NM_033028.5(BBS4):c.587+7G>C
|
rs755929085
|
0.00005
|
|
NM_033028.5(BBS4):c.643-20_643-19del
|
rs776030864
|
0.00005
|
|
NM_033028.5(BBS4):c.663A>G (p.Ala221=)
|
rs574868161
|
0.00005
|
|
NM_033028.5(BBS4):c.76+18dup
|
rs745516764
|
0.00005
|
|
NM_033028.5(BBS4):c.864+20C>G
|
rs753099644
|
0.00005
|
|
NM_033028.5(BBS4):c.1009A>T (p.Met337Leu)
|
rs1021016026
|
0.00004
|
|
NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg)
|
rs149577332
|
0.00004
|
|
NM_033028.5(BBS4):c.1157G>A (p.Gly386Asp)
|
rs143607861
|
0.00004
|
|
NM_033028.5(BBS4):c.1171G>A (p.Ala391Thr)
|
rs370963556
|
0.00004
|
|
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr)
|
rs760437306
|
0.00004
|
|
NM_033028.5(BBS4):c.1311C>G (p.Thr437=)
|
rs945847885
|
0.00004
|
|
NM_033028.5(BBS4):c.325A>C (p.Arg109=)
|
rs199809442
|
0.00004
|
|
NM_033028.5(BBS4):c.405+6T>C
|
rs926942882
|
0.00004
|
|
NM_033028.5(BBS4):c.480T>C (p.Asn160=)
|
rs894151156
|
0.00004
|
|
NM_033028.5(BBS4):c.501C>T (p.His167=)
|
rs745789574
|
0.00004
|
|
NM_033028.5(BBS4):c.645C>T (p.Leu215=)
|
rs373731535
|
0.00004
|
|
NM_033028.5(BBS4):c.6T>A (p.Ala2=)
|
rs954863260
|
0.00004
|
|
NM_033028.5(BBS4):c.712-14T>A
|
rs375598833
|
0.00004
|
|
NM_033028.5(BBS4):c.747C>T (p.His249=)
|
rs776079791
|
0.00004
|
|
NM_033028.5(BBS4):c.864+10C>T
|
rs201979024
|
0.00004
|
|
NM_033028.5(BBS4):c.986C>T (p.Ala329Val)
|
rs201987100
|
0.00004
|
|
NM_033028.5(BBS4):c.*149C>A
|
rs578051922
|
0.00003
|
|
NM_033028.5(BBS4):c.*855_*856del
|
rs748809330
|
0.00003
|
|
NM_033028.5(BBS4):c.-3A>G
|
rs771900208
|
0.00003
|
|
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)
|
rs969384648
|
0.00003
|
|
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser)
|
rs751716258
|
0.00003
|
|
NM_033028.5(BBS4):c.1270T>C (p.Leu424=)
|
rs376011637
|
0.00003
|
|
NM_033028.5(BBS4):c.1327C>G (p.Pro443Ala)
|
rs760115702
|
0.00003
|
|
NM_033028.5(BBS4):c.1462A>G (p.Thr488Ala)
|
rs746070171
|
0.00003
|
|
NM_033028.5(BBS4):c.1550G>A (p.Arg517Lys)
|
rs201651412
|
0.00003
|
|
NM_033028.5(BBS4):c.233G>A (p.Arg78His)
|
rs200396355
|
0.00003
|
|
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu)
|
rs372822977
|
0.00003
|
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
|
NM_033028.5(BBS4):c.928T>C (p.Leu310=)
|
rs375714932
|
0.00003
|
|
NM_033028.5(BBS4):c.963A>G (p.Ala321=)
|
rs368144793
|
0.00003
|
|
NM_033028.5(BBS4):c.975T>A (p.His325Gln)
|
rs769873362
|
0.00003
|
|
NM_033028.4(BBS4):c.-44G>C
|
rs886051465
|
0.00002
|
|
NM_033028.5(BBS4):c.1126C>G (p.Leu376Val)
|
rs760324204
|
0.00002
|
|
NM_033028.5(BBS4):c.12G>A (p.Glu4=)
|
rs543735239
|
0.00002
|
|
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)
|
rs914062190
|
0.00002
|
|
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)
|
rs754792792
|
0.00002
|
|
NM_033028.5(BBS4):c.1443C>T (p.Leu481=)
|
rs748092163
|
0.00002
|
|
NM_033028.5(BBS4):c.153C>T (p.Cys51=)
|
rs754709708
|
0.00002
|
|
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)
|
rs758120829
|
0.00002
|
|
NM_033028.5(BBS4):c.25-18C>T
|
rs140934493
|
0.00002
|
|
NM_033028.5(BBS4):c.275C>T (p.Thr92Ile)
|
rs761814377
|
0.00002
|
|
NM_033028.5(BBS4):c.282A>G (p.Ala94=)
|
rs370868102
|
0.00002
|
|
NM_033028.5(BBS4):c.332+5G>A
|
rs758789705
|
0.00002
|
|
NM_033028.5(BBS4):c.333-3C>T
|
rs369781535
|
0.00002
|
|
NM_033028.5(BBS4):c.799C>G (p.Pro267Ala)
|
rs775034843
|
0.00002
|
|
NM_033028.5(BBS4):c.*522A>G
|
rs531501103
|
0.00001
|
|
NM_033028.5(BBS4):c.*581T>A
|
rs936319236
|
0.00001
|
|
NM_033028.5(BBS4):c.*643A>C
|
rs886051469
|
0.00001
|
|
NM_033028.5(BBS4):c.1029C>T (p.Leu343=)
|
rs1000977139
|
0.00001
|
|
NM_033028.5(BBS4):c.1072A>C (p.Lys358Gln)
|
rs560253658
|
0.00001
|
|
NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs)
|
rs2065896039
|
0.00001
|
|
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)
|
rs28938468
|
0.00001
|
|
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)
|
rs772548770
|
0.00001
|
|
NM_033028.5(BBS4):c.1107-19G>C
|
rs763043698
|
0.00001
|
|
NM_033028.5(BBS4):c.1107G>A (p.Lys369=)
|
rs773893992
|
0.00001
|
|
NM_033028.5(BBS4):c.1172C>T (p.Ala391Val)
|
rs1419955498
|
0.00001
|
|
NM_033028.5(BBS4):c.1179C>T (p.Ala393=)
|
rs780560947
|
0.00001
|
|
NM_033028.5(BBS4):c.1182A>G (p.Gln394=)
|
rs771579669
|
0.00001
|
|
NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro)
|
rs569462424
|
0.00001
|
|
NM_033028.5(BBS4):c.1248+5G>A
|
rs756449572
|
0.00001
|
|
NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp)
|
rs914591602
|
0.00001
|
|
NM_033028.5(BBS4):c.1249-12T>C
|
rs759275107
|
0.00001
|
|
NM_033028.5(BBS4):c.1289T>C (p.Val430Ala)
|
rs767070801
|
0.00001
|
|
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala)
|
rs775122250
|
0.00001
|
|
NM_033028.5(BBS4):c.1319T>A (p.Val440Asp)
|
rs754157578
|
0.00001
|
|
NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr)
|
rs765715632
|
0.00001
|
|
NM_033028.5(BBS4):c.1336A>C (p.Lys446Gln)
|
rs201230357
|
0.00001
|
|
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro)
|
rs749034070
|
0.00001
|
|
NM_033028.5(BBS4):c.134G>A (p.Arg45Gln)
|
rs1050164962
|
0.00001
|
|
NM_033028.5(BBS4):c.1394A>G (p.Asn465Ser)
|
rs1214182249
|
0.00001
|
|
NM_033028.5(BBS4):c.1429G>A (p.Ala477Thr)
|
rs760480986
|
0.00001
|
|
NM_033028.5(BBS4):c.1450+10T>C
|
rs886042845
|
0.00001
|
|
NM_033028.5(BBS4):c.14G>C (p.Arg5Thr)
|
rs1307094685
|
0.00001
|
|
NM_033028.5(BBS4):c.1512G>A (p.Ala504=)
|
rs369958857
|
0.00001
|
|
NM_033028.5(BBS4):c.179A>G (p.Gln60Arg)
|
rs916245903
|
0.00001
|
|
NM_033028.5(BBS4):c.17T>C (p.Val6Ala)
|
rs113994185
|
0.00001
|
|
NM_033028.5(BBS4):c.187C>T (p.Gln63Ter)
|
rs1338469029
|
0.00001
|
|
NM_033028.5(BBS4):c.18C>T (p.Val6=)
|
rs113994187
|
0.00001
|
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
|
NM_033028.5(BBS4):c.20C>T (p.Ala7Val)
|
rs113994186
|
0.00001
|
|
NM_033028.5(BBS4):c.214G>A (p.Val72Ile)
|
rs749578199
|
0.00001
|
|
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys)
|
rs145168232
|
0.00001
|
|
NM_033028.5(BBS4):c.23C>T (p.Thr8Met)
|
rs769894375
|
0.00001
|
|
NM_033028.5(BBS4):c.24+16C>G
|
rs377301298
|
0.00001
|
|
NM_033028.5(BBS4):c.24+7G>A
|
rs373861071
|
0.00001
|
|
NM_033028.5(BBS4):c.289A>C (p.Ser97Arg)
|
rs2065449512
|
0.00001
|
|
NM_033028.5(BBS4):c.2T>C (p.Met1Thr)
|
rs1302879683
|
0.00001
|
|
NM_033028.5(BBS4):c.315G>T (p.Lys105Asn)
|
rs766485888
|
0.00001
|
|
NM_033028.5(BBS4):c.31C>G (p.Gln11Glu)
|
rs1040144478
|
0.00001
|
|
NM_033028.5(BBS4):c.332+8T>C
|
rs1456405256
|
0.00001
|
|
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr)
|
rs530223854
|
0.00001
|
|
NM_033028.5(BBS4):c.402T>C (p.Asp134=)
|
rs1567416229
|
0.00001
|
|
NM_033028.5(BBS4):c.405+10G>C
|
rs1216711857
|
0.00001
|
|
NM_033028.5(BBS4):c.408G>A (p.Glu136=)
|
rs201881253
|
0.00001
|
|
NM_033028.5(BBS4):c.420C>T (p.Asn140=)
|
rs763224665
|
0.00001
|
|
NM_033028.5(BBS4):c.42A>G (p.Val14=)
|
rs113994181
|
0.00001
|
|
NM_033028.5(BBS4):c.461C>T (p.Ala154Val)
|
rs756744863
|
0.00001
|
|
NM_033028.5(BBS4):c.469C>G (p.Gln157Glu)
|
rs1177848403
|
0.00001
|
|
NM_033028.5(BBS4):c.535T>C (p.Leu179=)
|
rs539768891
|
0.00001
|
|
NM_033028.5(BBS4):c.546A>G (p.Gly182=)
|
rs147218625
|
0.00001
|
|
NM_033028.5(BBS4):c.588-9A>G
|
rs553655236
|
0.00001
|
|
NM_033028.5(BBS4):c.593C>T (p.Ser198Leu)
|
rs751076253
|
0.00001
|
|
NM_033028.5(BBS4):c.595C>T (p.Pro199Ser)
|
rs371598044
|
0.00001
|
|
NM_033028.5(BBS4):c.5C>T (p.Ala2Val)
|
rs923399180
|
0.00001
|
|
NM_033028.5(BBS4):c.61C>T (p.Pro21Ser)
|
rs916749492
|
0.00001
|
|
NM_033028.5(BBS4):c.624A>G (p.Leu208=)
|
rs1318415066
|
0.00001
|
|
NM_033028.5(BBS4):c.63C>T (p.Pro21=)
|
rs267604309
|
0.00001
|
|
NM_033028.5(BBS4):c.642+11del
|
rs747510870
|
0.00001
|
|
NM_033028.5(BBS4):c.65G>A (p.Arg22Gln)
|
rs775955872
|
0.00001
|
|
NM_033028.5(BBS4):c.684A>C (p.Ala228=)
|
rs35132058
|
0.00001
|
|
NM_033028.5(BBS4):c.697C>G (p.Pro233Ala)
|
rs569388336
|
0.00001
|
|
NM_033028.5(BBS4):c.706T>C (p.Tyr236His)
|
rs746172575
|
0.00001
|
|
NM_033028.5(BBS4):c.708C>T (p.Tyr236=)
|
rs770211437
|
0.00001
|
|
NM_033028.5(BBS4):c.712-8G>A
|
rs2065815184
|
0.00001
|
|
NM_033028.5(BBS4):c.714C>T (p.Ala238=)
|
rs756435227
|
0.00001
|
|
NM_033028.5(BBS4):c.741G>A (p.Gln247=)
|
rs368525772
|
0.00001
|
|
NM_033028.5(BBS4):c.760G>A (p.Val254Ile)
|
rs532770420
|
0.00001
|
|
NM_033028.5(BBS4):c.777C>T (p.Tyr259=)
|
rs200469783
|
0.00001
|
|
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)
|
rs748048479
|
0.00001
|
|
NM_033028.5(BBS4):c.825C>T (p.Asn275=)
|
rs1439728758
|
0.00001
|
|
NM_033028.5(BBS4):c.852G>T (p.Lys284Asn)
|
rs12373005
|
0.00001
|
|
NM_033028.5(BBS4):c.863C>T (p.Ala288Val)
|
rs772051835
|
0.00001
|
|
NM_033028.5(BBS4):c.864+9C>T
|
rs775416661
|
0.00001
|
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
|
NM_033028.5(BBS4):c.884G>A (p.Arg295Gln)
|
rs121434632
|
0.00001
|
|
NM_033028.5(BBS4):c.91A>G (p.Ile31Val)
|
rs113994182
|
0.00001
|
|
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)
|
rs199831925
|
0.00001
|
|
NM_033028.5(BBS4):c.926A>C (p.Asn309Thr)
|
rs1178593849
|
0.00001
|
|
NM_033028.5(BBS4):c.987G>A (p.Ala329=)
|
rs1296549307
|
0.00001
|
|
NM_033028.5(BBS4):c.999C>G (p.Phe333Leu)
|
rs774619624
|
0.00001
|
|
GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1
|
|
|
|
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
|
|
|
|
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
|
|
|
|
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
|
|
|
|
NC_000015.10:g.(?_72676034)_(72704515_?)dup
|
|
|
|
NC_000015.10:g.(?_72686218)_(72686261_?)del
|
|
|
|
NC_000015.10:g.(?_72709680)_(72712327_?)del
|
|
|
|
NC_000015.10:g.(?_72715271)_(72716870_?)del
|
|
|
|
NC_000015.10:g.72708224_72722485del
|
|
|
|
NC_000015.9:g.(72987570_73002040)_(73004649_73007631)del
|
|
|
|
NC_000015.9:g.(73002121_73004584)_(73004649_73007631)del
|
|
|
|
NC_000015.9:g.(?_72978549)_(73029948_?)del
|
|
|
|
NC_000015.9:g.(?_72978549)_(73029948_?)dup
|
|
|
|
NC_000015.9:g.(?_72978569)_(73009211_?)del
|
|
|
|
NC_000015.9:g.(?_73004565)_(73009211_?)del
|
|
|
|
NC_000015.9:g.(?_73004585)_(73004648_?)del
|
|
|
|
NC_000015.9:g.(?_73015115)_(73020355_?)del
|
|
|
|
NC_000015.9:g.(?_73015115)_(73024087_?)del
|
|
|
|
NM_033028.4(BBS4):c.157-?_220+?del
|
|
|
|
NM_033028.4:r.[118_261del;118_373del]
|
|
|
|
NM_033028.5(BBS4):c.*159A>G
|
rs2065955405
|
|
|
NM_033028.5(BBS4):c.*1_*2delGA
|
|
|
|
NM_033028.5(BBS4):c.*1_*3delGAA
|
|
|
|
NM_033028.5(BBS4):c.*608G>T
|
rs12898814
|
|
|
NM_033028.5(BBS4):c.*883C>T
|
rs886051470
|
|
|
NM_033028.5(BBS4):c.-17C>A
|
rs56368716
|
|
|
NM_033028.5(BBS4):c.-6G>A
|
rs367543011
|
|
|
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)
|
rs750983167
|
|
|
NM_033028.5(BBS4):c.1016_1017del (p.Glu339fs)
|
|
|
|
NM_033028.5(BBS4):c.101del (p.Lys34fs)
|
|
|
|
NM_033028.5(BBS4):c.1020C>T (p.Leu340=)
|
|
|
|
NM_033028.5(BBS4):c.1023C>T (p.Tyr341=)
|
|
|
|
NM_033028.5(BBS4):c.1027C>A (p.Leu343Ile)
|
rs758032659
|
|
|
NM_033028.5(BBS4):c.1032G>C (p.Leu344Phe)
|
|
|
|
NM_033028.5(BBS4):c.1036+11T>C
|
|
|
|
NM_033028.5(BBS4):c.1036+18G>A
|
|
|
|
NM_033028.5(BBS4):c.1036+19G>A
|
|
|
|
NM_033028.5(BBS4):c.1036+19G>C
|
rs2151048330
|
|
|
NM_033028.5(BBS4):c.1036+1G>A
|
rs2151048301
|
|
|
NM_033028.5(BBS4):c.1036+8A>G
|
|
|
|
NM_033028.5(BBS4):c.1037-1G>A
|
|
|
|
NM_033028.5(BBS4):c.1037-2A>G
|
|
|
|
NM_033028.5(BBS4):c.1039G>A (p.Ala347Thr)
|
|
|
|
NM_033028.5(BBS4):c.103C>T (p.Gln35Ter)
|
|
|
|
NM_033028.5(BBS4):c.1063G>C (p.Glu355Gln)
|
rs1478448702
|
|
|
NM_033028.5(BBS4):c.1064_1106+97del
|
|
|
|
NM_033028.5(BBS4):c.1074G>A (p.Lys358=)
|
|
|
|
NM_033028.5(BBS4):c.1076G>C (p.Arg359Thr)
|
rs367767132
|
|
|
NM_033028.5(BBS4):c.1083C>A (p.Tyr361Ter)
|
|
|
|
NM_033028.5(BBS4):c.1086A>G (p.Ala362=)
|
|
|
|
NM_033028.5(BBS4):c.1092A>T (p.Ala364=)
|
|
|
|
NM_033028.5(BBS4):c.1095C>A (p.Val365=)
|
|
|
|
NM_033028.5(BBS4):c.10G>A (p.Glu4Lys)
|
rs1336636537
|
|
|
NM_033028.5(BBS4):c.10G>C (p.Glu4Gln)
|
|
|
|
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
|
|
|
|
NM_033028.5(BBS4):c.1101G>A (p.Leu367=)
|
|
|
|
NM_033028.5(BBS4):c.1101G>T (p.Leu367=)
|
|
|
|
NM_033028.5(BBS4):c.1106+11T>G
|
|
|
|
NM_033028.5(BBS4):c.1106+17G>A
|
rs1485932268
|
|
|
NM_033028.5(BBS4):c.1106+1G>A
|
|
|
|
NM_033028.5(BBS4):c.1106+2T>A
|
rs886041464
|
|
|
NM_033028.5(BBS4):c.1106+2T>C
|
|
|
|
NM_033028.5(BBS4):c.1106+7A>C
|
|
|
|
NM_033028.5(BBS4):c.1106+7A>G
|
|
|
|
NM_033028.5(BBS4):c.1106del (p.Lys369fs)
|
|
|
|
NM_033028.5(BBS4):c.1107-10_1107-7del
|
rs770577174
|
|
|
NM_033028.5(BBS4):c.1107-13C>T
|
|
|
|
NM_033028.5(BBS4):c.1107-17A>G
|
|
|
|
NM_033028.5(BBS4):c.1107-9C>G
|
|
|
|
NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs)
|
rs2065911287
|
|
|
NM_033028.5(BBS4):c.1118T>A (p.Leu373Ter)
|
|
|
|
NM_033028.5(BBS4):c.1126dup (p.Leu376fs)
|
rs2065911518
|
|
|
NM_033028.5(BBS4):c.1133A>G (p.Tyr378Cys)
|
rs766266805
|
|
|
NM_033028.5(BBS4):c.1134T>C (p.Tyr378=)
|
|
|
|
NM_033028.5(BBS4):c.1140_1147del (p.Leu381fs)
|
|
|
|
NM_033028.5(BBS4):c.1143G>A (p.Leu381=)
|
|
|
|
NM_033028.5(BBS4):c.1146G>A (p.Leu382=)
|
|
|
|
NM_033028.5(BBS4):c.1159G>A (p.Glu387Lys)
|
|
|
|
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del)
|
rs759315856
|
|
|
NM_033028.5(BBS4):c.1166A>G (p.Lys389Arg)
|
|
|
|
NM_033028.5(BBS4):c.116T>C (p.Ile39Thr)
|
|
|
|
NM_033028.5(BBS4):c.1173C>T (p.Ala391=)
|
|
|
|
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
|
|
|
|
NM_033028.5(BBS4):c.1183T>C (p.Tyr395His)
|
|
|
|
NM_033028.5(BBS4):c.1185T>A (p.Tyr395Ter)
|
|
|
|
NM_033028.5(BBS4):c.1185T>C (p.Tyr395=)
|
|
|
|
NM_033028.5(BBS4):c.1191G>A (p.Glu397=)
|
|
|
|
NM_033028.5(BBS4):c.1197GAA[1] (p.Lys401del)
|
rs1414925501
|
|
|
NM_033028.5(BBS4):c.1200G>C (p.Lys400Asn)
|
rs1295583634
|
|
|
NM_033028.5(BBS4):c.1202_1203dup (p.Val402fs)
|
|
|
|
NM_033028.5(BBS4):c.1203dup (p.Val402fs)
|
|
|
|
NM_033028.5(BBS4):c.1205_1208del (p.Val402fs)
|
|
|
|
NM_033028.5(BBS4):c.1209C>T (p.Ser403=)
|
|
|
|
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup)
|
rs752690768
|
|
|
NM_033028.5(BBS4):c.1224T>C (p.Asn408=)
|
|
|
|
NM_033028.5(BBS4):c.1226G>T (p.Ser409Ile)
|
|
|
|
NM_033028.5(BBS4):c.1226del (p.Ser409fs)
|
rs886039800
|
|
|
NM_033028.5(BBS4):c.1227C>T (p.Ser409=)
|
|
|
|
NM_033028.5(BBS4):c.1234_1248+5del
|
|
|
|
NM_033028.5(BBS4):c.1248+18T>G
|
|
|
|
NM_033028.5(BBS4):c.1248+1G>A
|
|
|
|
NM_033028.5(BBS4):c.1248+1G>T
|
rs1419924139
|
|
|
NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
|
NM_033028.5(BBS4):c.1248+2dup
|
|
|
|
NM_033028.5(BBS4):c.1248+4T>C
|
rs2065914727
|
|
|
NM_033028.5(BBS4):c.1248G>A (p.Glu416=)
|
rs914591602
|
|
|
NM_033028.5(BBS4):c.1249-11G>A
|
|
|
|
NM_033028.5(BBS4):c.1249-15C>A
|
|
|
|
NM_033028.5(BBS4):c.1249-3_1259del
|
|
|
|
NM_033028.5(BBS4):c.1249-5A>C
|
|
|
|
NM_033028.5(BBS4):c.1249-8dup
|
rs1419777878
|
|
|
NM_033028.5(BBS4):c.1254G>A (p.Val418=)
|
|
|
|
NM_033028.5(BBS4):c.1254G>C (p.Val418=)
|
|
|
|
NM_033028.5(BBS4):c.1263T>G (p.Ala421=)
|
|
|
|
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
|
|
|
|
NM_033028.5(BBS4):c.1278T>A (p.Ala426=)
|
|
|
|
NM_033028.5(BBS4):c.1286A>G (p.Gln429Arg)
|
|
|
|
NM_033028.5(BBS4):c.1287G>A (p.Gln429=)
|
|
|
|
NM_033028.5(BBS4):c.1287G>T (p.Gln429His)
|
|
|
|
NM_033028.5(BBS4):c.1288G>T (p.Val430Phe)
|
|
|
|
NM_033028.5(BBS4):c.1289T>G (p.Val430Gly)
|
rs767070801
|
|
|
NM_033028.5(BBS4):c.1294del (p.Glu432fs)
|
rs912967826
|
|
|
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
|
|
|
|
NM_033028.5(BBS4):c.1296G>A (p.Glu432=)
|
|
|
|
NM_033028.5(BBS4):c.1299A>G (p.Ala433=)
|
|
|
|
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter)
|
rs2065331681
|
|
|
NM_033028.5(BBS4):c.1300C>T (p.Leu434=)
|
|
|
|
NM_033028.5(BBS4):c.1302G>C (p.Leu434=)
|
|
|
|
NM_033028.5(BBS4):c.1306T>G (p.Trp436Gly)
|
rs2151057022
|
|
|
NM_033028.5(BBS4):c.1308G>A (p.Trp436Ter)
|
|
|
|
NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)
|
|
|
|
NM_033028.5(BBS4):c.1317A>G (p.Pro439=)
|
|
|
|
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)
|
rs1281334523
|
|
|
NM_033028.5(BBS4):c.1320T>C (p.Val440=)
|
|
|
|
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly)
|
rs753145823
|
|
|
NM_033028.5(BBS4):c.1329C>G (p.Pro443=)
|
|
|
|
NM_033028.5(BBS4):c.133C>T (p.Arg45Trp)
|
|
|
|
NM_033028.5(BBS4):c.1340A>C (p.His447Pro)
|
rs1419223053
|
|
|
NM_033028.5(BBS4):c.1347C>G (p.Thr449=)
|
|
|
|
NM_033028.5(BBS4):c.1347C>T (p.Thr449=)
|
rs779876012
|
|
|
NM_033028.5(BBS4):c.1356C>T (p.Thr452=)
|
|
|
|
NM_033028.5(BBS4):c.1369A>G (p.Ser457Gly)
|
rs773209808
|
|
|
NM_033028.5(BBS4):c.1376A>G (p.Gln459Arg)
|
rs766535822
|
|
|
NM_033028.5(BBS4):c.1377G>A (p.Gln459=)
|
|
|
|
NM_033028.5(BBS4):c.1388G>C (p.Gly463Ala)
|
|
|
|
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
|
|
|
|
NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro)
|
rs776847398
|
|
|
NM_033028.5(BBS4):c.1391C>G (p.Ser464Cys)
|
|
|
|
NM_033028.5(BBS4):c.1398del (p.Ala467fs)
|
|
|
|
NM_033028.5(BBS4):c.1405G>C (p.Gly469Arg)
|
|
|
|
NM_033028.5(BBS4):c.1409A>T (p.Gln470Leu)
|
rs2065937102
|
|
|
NM_033028.5(BBS4):c.1414A>C (p.Met472Leu)
|
rs2277596
|
|
|
NM_033028.5(BBS4):c.1450+11A>G
|
|
|
|
NM_033028.5(BBS4):c.1450+12C>G
|
|
|
|
NM_033028.5(BBS4):c.1450+17_1450+22del
|
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|
NM_033028.5(BBS4):c.1450+2T>C
|
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|
|
NM_033028.5(BBS4):c.1450+2_1450+5del
|
rs1287237832
|
|
|
NM_033028.5(BBS4):c.1450+7C>T
|
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|
|
NM_033028.5(BBS4):c.1450+9A>G
|
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|
|
NM_033028.5(BBS4):c.1450G>A (p.Gly484Ser)
|
rs2065938048
|
|
|
NM_033028.5(BBS4):c.1451-14T>C
|
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|
|
NM_033028.5(BBS4):c.1451-14del
|
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|
NM_033028.5(BBS4):c.1451-20A>C
|
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|
NM_033028.5(BBS4):c.1451-20A>G
|
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|
NM_033028.5(BBS4):c.1451-4C>T
|
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|
NM_033028.5(BBS4):c.1451-6dup
|
rs770389663
|
|
|
NM_033028.5(BBS4):c.1451-7T>A
|
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|
NM_033028.5(BBS4):c.1456G>A (p.Gly486Arg)
|
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|
NM_033028.5(BBS4):c.1459G>C (p.Gly487Arg)
|
rs2151058260
|
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|
NM_033028.5(BBS4):c.1463C>A (p.Thr488Lys)
|
rs561284402
|
|
|
NM_033028.5(BBS4):c.1468C>T (p.Gln490Ter)
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|
|
NM_033028.5(BBS4):c.1473C>G (p.Phe491Leu)
|
rs886051468
|
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|
NM_033028.5(BBS4):c.1483C>T (p.Pro495Ser)
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NM_033028.5(BBS4):c.1493del (p.Pro498fs)
|
rs777455492
|
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|
NM_033028.5(BBS4):c.1494T>G (p.Pro498=)
|
rs1186383384
|
|
|
NM_033028.5(BBS4):c.1506G>T (p.Glu502Asp)
|
|
|
|
NM_033028.5(BBS4):c.150del (p.Cys51fs)
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NM_033028.5(BBS4):c.1510G>A (p.Ala504Thr)
|
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|
NM_033028.5(BBS4):c.1515G>A (p.Val505=)
|
rs2151058394
|
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|
NM_033028.5(BBS4):c.1517A>T (p.Glu506Val)
|
rs1278438729
|
|
|
NM_033028.5(BBS4):c.1536A>G (p.Thr512=)
|
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|
NM_033028.5(BBS4):c.1541A>G (p.Glu514Gly)
|
rs2065950720
|
|
|
NM_033028.5(BBS4):c.1542A>G (p.Glu514=)
|
|
|
|
NM_033028.5(BBS4):c.1545A>G (p.Gln515=)
|
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|
NM_033028.5(BBS4):c.1549_1551del (p.Arg517del)
|
|
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|
NM_033028.5(BBS4):c.1554G>A (p.Glu518=)
|
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|
NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs)
|
rs1463405501
|
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|
NM_033028.5(BBS4):c.1557A>G (p.Lys519=)
|
|
|
|
NM_033028.5(BBS4):c.156+10T>G
|
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|
|
NM_033028.5(BBS4):c.156+12C>T
|
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NM_033028.5(BBS4):c.156+14A>G
|
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|
|
NM_033028.5(BBS4):c.156+4A>G
|
|
|
|
NM_033028.5(BBS4):c.156+9T>C
|
rs749530632
|
|
|
NM_033028.5(BBS4):c.157-12T>G
|
|
|
|
NM_033028.5(BBS4):c.157-13C>T
|
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NM_033028.5(BBS4):c.157-15T>G
|
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NM_033028.5(BBS4):c.157-1G>T
|
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|
NM_033028.5(BBS4):c.157-20C>G
|
rs2151019478
|
|
|
NM_033028.5(BBS4):c.157-20C>T
|
rs2151019478
|
|
|
NM_033028.5(BBS4):c.157-2A>G
|
rs113994192
|
|
|
NM_033028.5(BBS4):c.157-3C>G
|
rs1567412639
|
|
|
NM_033028.5(BBS4):c.157-4T>C
|
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|
NM_033028.5(BBS4):c.157-6T>C
|
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|
|
NM_033028.5(BBS4):c.157-9C>G
|
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|
|
NM_033028.5(BBS4):c.157-9C>T
|
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|
NM_033028.5(BBS4):c.16G>A (p.Val6Ile)
|
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|
|
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)
|
rs886039802
|
|
|
NM_033028.5(BBS4):c.174G>A (p.Gln58=)
|
|
|
|
NM_033028.5(BBS4):c.181G>A (p.Glu61Lys)
|
rs1251827333
|
|
|
NM_033028.5(BBS4):c.186_187del (p.Gln63fs)
|
|
|
|
NM_033028.5(BBS4):c.189G>A (p.Gln63=)
|
rs1447098604
|
|
|
NM_033028.5(BBS4):c.18C>A (p.Val6=)
|
|
|
|
NM_033028.5(BBS4):c.192A>T (p.Gly64=)
|
|
|
|
NM_033028.5(BBS4):c.19G>A (p.Ala7Thr)
|
rs2064831111
|
|
|
NM_033028.5(BBS4):c.19G>C (p.Ala7Pro)
|
rs2064831111
|
|
|
NM_033028.5(BBS4):c.20C>G (p.Ala7Gly)
|
|
|
|
NM_033028.5(BBS4):c.210C>A (p.Ile70=)
|
|
|
|
NM_033028.5(BBS4):c.210_213del (p.Ile70fs)
|
rs775928735
|
|
|
NM_033028.5(BBS4):c.216C>T (p.Val72=)
|
|
|
|
NM_033028.5(BBS4):c.217del (p.Gln73fs)
|
|
|
|
NM_033028.5(BBS4):c.220+10A>G
|
|
|
|
NM_033028.5(BBS4):c.220+16_220+18del
|
rs2151019680
|
|
|
NM_033028.5(BBS4):c.220+1G>A
|
|
|
|
NM_033028.5(BBS4):c.220+1G>C
|
rs113994190
|
|
|
NM_033028.5(BBS4):c.220+3A>G
|
|
|
|
NM_033028.5(BBS4):c.220+3A>T
|
rs376143305
|
|
|
NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)
|
|
|
|
NM_033028.5(BBS4):c.221-14C>T
|
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|
NM_033028.5(BBS4):c.221-20T>C
|
|
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|
NM_033028.5(BBS4):c.223T>C (p.Leu75=)
|
|
|
|
NM_033028.5(BBS4):c.226A>G (p.Ile76Val)
|
|
|
|
NM_033028.5(BBS4):c.237A>G (p.Leu79=)
|
|
|
|
NM_033028.5(BBS4):c.24+11A>T
|
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|
NM_033028.5(BBS4):c.24+16C>T
|
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|
|
NM_033028.5(BBS4):c.24+17T>C
|
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|
NM_033028.5(BBS4):c.24+18C>T
|
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|
NM_033028.5(BBS4):c.24+18_24+19del
|
|
|
|
NM_033028.5(BBS4):c.24+1G>A
|
rs759520211
|
|
|
NM_033028.5(BBS4):c.24+1G>T
|
rs759520211
|
|
|
NM_033028.5(BBS4):c.24+2T>G
|
|
|
|
NM_033028.5(BBS4):c.24+8C>A
|
|
|
|
NM_033028.5(BBS4):c.24+9C>T
|
|
|
|
NM_033028.5(BBS4):c.240A>C (p.Glu80Asp)
|
rs745338483
|
|
|
NM_033028.5(BBS4):c.243A>G (p.Gly81=)
|
rs2151023302
|
|
|
NM_033028.5(BBS4):c.246T>C (p.Asn82=)
|
|
|
|
NM_033028.5(BBS4):c.248T>G (p.Ile83Ser)
|
rs1567415169
|
|
|
NM_033028.5(BBS4):c.25-16A>G
|
|
|
|
NM_033028.5(BBS4):c.252A>T (p.Gln84His)
|
rs2065448650
|
|
|
NM_033028.5(BBS4):c.255A>C (p.Glu85Asp)
|
|
|
|
NM_033028.5(BBS4):c.258C>A (p.Ser86=)
|
|
|
|
NM_033028.5(BBS4):c.261A>G (p.Leu87=)
|
|
|
|
NM_033028.5(BBS4):c.267C>T (p.Leu89=)
|
|
|
|
NM_033028.5(BBS4):c.276A>C (p.Thr92=)
|
|
|
|
NM_033028.5(BBS4):c.276A>G (p.Thr92=)
|
rs2151023356
|
|
|
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
|
|
|
|
NM_033028.5(BBS4):c.281del (p.Ala94fs)
|
rs2151023363
|
|
|
NM_033028.5(BBS4):c.289_291delinsTG (p.Ser97fs)
|
rs2065449579
|
|
|
NM_033028.5(BBS4):c.28dup (p.Thr10fs)
|
rs113994184
|
|
|
NM_033028.5(BBS4):c.295C>T (p.Gln99Ter)
|
|
|
|
NM_033028.5(BBS4):c.306T>C (p.Asp102=)
|
rs886706996
|
|
|
NM_033028.5(BBS4):c.317A>G (p.Gln106Arg)
|
rs139038321
|
|
|
NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
|
|
|
|
NM_033028.5(BBS4):c.327A>T (p.Arg109Ser)
|
|
|
|
NM_033028.5(BBS4):c.332+14A>T
|
rs980205433
|
|
|
NM_033028.5(BBS4):c.332+16del
|
|
|
|
NM_033028.5(BBS4):c.332+1G>T
|
|
|
|
NM_033028.5(BBS4):c.332+2_332+3insTT
|
rs753360929
|
|
|
NM_033028.5(BBS4):c.332+2dup
|
rs753360929
|
|
|
NM_033028.5(BBS4):c.333-10T>C
|
|
|
|
NM_033028.5(BBS4):c.333-12T>C
|
|
|
|
NM_033028.5(BBS4):c.333-13A>G
|
|
|
|
NM_033028.5(BBS4):c.333-15A>C
|
|
|
|
NM_033028.5(BBS4):c.333-18A>G
|
rs760730921
|
|
|
NM_033028.5(BBS4):c.333-1G>C
|
rs2065474809
|
|
|
NM_033028.5(BBS4):c.333-20G>C
|
|
|
|
NM_033028.5(BBS4):c.333-2A>C
|
|
|
|
NM_033028.5(BBS4):c.333-9C>A
|
|
|
|
NM_033028.5(BBS4):c.340T>C (p.Leu114=)
|
|
|
|
NM_033028.5(BBS4):c.341del (p.Leu114fs)
|
rs750258633
|
|
|
NM_033028.5(BBS4):c.342G>A (p.Leu114=)
|
|
|
|
NM_033028.5(BBS4):c.346A>T (p.Lys116Ter)
|
|
|
|
NM_033028.5(BBS4):c.348A>G (p.Lys116=)
|
|
|
|
NM_033028.5(BBS4):c.349C>T (p.His117Tyr)
|
rs765399591
|
|
|
NM_033028.5(BBS4):c.354A>G (p.Lys118=)
|
|
|
|
NM_033028.5(BBS4):c.360C>T (p.Ala120=)
|
|
|
|
NM_033028.5(BBS4):c.369A>G (p.Val123=)
|
|
|
|
NM_033028.5(BBS4):c.385A>G (p.Lys129Glu)
|
|
|
|
NM_033028.5(BBS4):c.39T>G (p.Pro13=)
|
rs990984115
|
|
|
NM_033028.5(BBS4):c.403T>A (p.Trp135Arg)
|
rs768304898
|
|
|
NM_033028.5(BBS4):c.405G>A (p.Trp135Ter)
|
|
|
|
NM_033028.5(BBS4):c.406-11del
|
|
|
|
NM_033028.5(BBS4):c.406-16T>C
|
|
|
|
NM_033028.5(BBS4):c.406-2A>C
|
rs113994191
|
|
|
NM_033028.5(BBS4):c.406-2A>G
|
rs113994191
|
|
|
NM_033028.5(BBS4):c.406-4C>T
|
rs2151032476
|
|
|
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
|
|
|
|
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg)
|
rs1595935759
|
|
|
NM_033028.5(BBS4):c.428T>A (p.Val143Asp)
|
rs2065601390
|
|
|
NM_033028.5(BBS4):c.434A>G (p.Tyr145Cys)
|
|
|
|
NM_033028.5(BBS4):c.435C>A (p.Tyr145Ter)
|
|
|
|
NM_033028.5(BBS4):c.435C>T (p.Tyr145=)
|
|
|
|
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn)
|
rs781691906
|
|
|
NM_033028.5(BBS4):c.443T>A (p.Leu148Gln)
|
|
|
|
NM_033028.5(BBS4):c.453_454insGAAC (p.Asn152fs)
|
|
|
|
NM_033028.5(BBS4):c.456C>T (p.Asn152=)
|
|
|
|
NM_033028.5(BBS4):c.458del (p.Lys153fs)
|
|
|
|
NM_033028.5(BBS4):c.459+13A>G
|
|
|
|
NM_033028.5(BBS4):c.459+15T>A
|
|
|
|
NM_033028.5(BBS4):c.459+1G>A
|
|
|
|
NM_033028.5(BBS4):c.460-15T>A
|
|
|
|
NM_033028.5(BBS4):c.460-15T>C
|
|
|
|
NM_033028.5(BBS4):c.463C>A (p.Gln155Lys)
|
rs147391634
|
|
|
NM_033028.5(BBS4):c.465A>G (p.Gln155=)
|
|
|
|
NM_033028.5(BBS4):c.469del (p.Gln157fs)
|
|
|
|
NM_033028.5(BBS4):c.470A>G (p.Gln157Arg)
|
|
|
|
NM_033028.5(BBS4):c.472T>C (p.Leu158=)
|
|
|
|
NM_033028.5(BBS4):c.489T>C (p.Asn163=)
|
|
|
|
NM_033028.5(BBS4):c.48T>A (p.Thr16=)
|
|
|
|
NM_033028.5(BBS4):c.48T>G (p.Thr16=)
|
|
|
|
NM_033028.5(BBS4):c.495T>C (p.Asn165=)
|
|
|
|
NM_033028.5(BBS4):c.502G>A (p.Asp168Asn)
|
rs769766779
|
|
|
NM_033028.5(BBS4):c.502G>T (p.Asp168Tyr)
|
|
|
|
NM_033028.5(BBS4):c.507G>A (p.Leu169=)
|
|
|
|
NM_033028.5(BBS4):c.507G>T (p.Leu169=)
|
|
|
|
NM_033028.5(BBS4):c.511dup (p.Tyr171fs)
|
|
|
|
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter)
|
rs367882912
|
|
|
NM_033028.5(BBS4):c.514dup (p.Ile172fs)
|
|
|
|
NM_033028.5(BBS4):c.520C>T (p.Leu174=)
|
|
|
|
NM_033028.5(BBS4):c.530T>G (p.Ile177Ser)
|
rs1341828921
|
|
|
NM_033028.5(BBS4):c.531C>T (p.Ile177=)
|
rs2065634194
|
|
|
NM_033028.5(BBS4):c.534C>T (p.His178=)
|
|
|
|
NM_033028.5(BBS4):c.548A>G (p.Asp183Gly)
|
rs751216768
|
|
|
NM_033028.5(BBS4):c.549C>T (p.Asp183=)
|
|
|
|
NM_033028.5(BBS4):c.555C>T (p.Asp185=)
|
rs2151034397
|
|
|
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
|
|
|
|
NM_033028.5(BBS4):c.562A>G (p.Ile188Val)
|
rs2151034404
|
|
|
NM_033028.5(BBS4):c.566A>T (p.Glu189Val)
|
|
|
|
NM_033028.5(BBS4):c.570C>G (p.Val190=)
|
|
|
|
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys)
|
rs756915341
|
|
|
NM_033028.5(BBS4):c.573C>T (p.Tyr191=)
|
rs781012019
|
|
|
NM_033028.5(BBS4):c.57A>G (p.Gln19=)
|
|
|
|
NM_033028.5(BBS4):c.584_585dup (p.Glu196fs)
|
|
|
|
NM_033028.5(BBS4):c.587+16T>A
|
|
|
|
NM_033028.5(BBS4):c.587+17C>A
|
rs2151034479
|
|
|
NM_033028.5(BBS4):c.587+17_587+21del
|
|
|
|
NM_033028.5(BBS4):c.587+1G>A
|
rs886051466
|
|
|
NM_033028.5(BBS4):c.588-13C>T
|
rs2151041174
|
|
|
NM_033028.5(BBS4):c.588-14T>C
|
|
|
|
NM_033028.5(BBS4):c.588-16C>T
|
|
|
|
NM_033028.5(BBS4):c.588-17G>T
|
rs1023807138
|
|
|
NM_033028.5(BBS4):c.588-4G>T
|
|
|
|
NM_033028.5(BBS4):c.588-9_588-8del
|
|
|
|
NM_033028.5(BBS4):c.596C>T (p.Pro199Leu)
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NM_033028.5(BBS4):c.608_609del (p.Glu203fs)
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NM_033028.5(BBS4):c.616dup (p.Thr206fs)
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NM_033028.5(BBS4):c.617C>A (p.Thr206Lys)
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NM_033028.5(BBS4):c.619A>G (p.Thr207Ala)
|
rs558382374
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NM_033028.5(BBS4):c.623T>A (p.Leu208Ter)
|
rs1358520224
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NM_033028.5(BBS4):c.629T>C (p.Leu210Ser)
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NM_033028.5(BBS4):c.631C>T (p.Leu211Phe)
|
rs1567426035
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NM_033028.5(BBS4):c.633C>G (p.Leu211=)
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NM_033028.5(BBS4):c.636C>T (p.Tyr212=)
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rs1239795042
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NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)
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rs1060503692
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NM_033028.5(BBS4):c.640C>T (p.Gln214Ter)
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NM_033028.5(BBS4):c.642+11C>T
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NM_033028.5(BBS4):c.642+12T>C
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NM_033028.5(BBS4):c.642+13_642+14del
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NM_033028.5(BBS4):c.642+14T>A
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NM_033028.5(BBS4):c.642+14_642+20del
|
rs886038705
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NM_033028.5(BBS4):c.642+15_642+16del
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NM_033028.5(BBS4):c.642+1G>A
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NM_033028.5(BBS4):c.642+1G>T
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NM_033028.5(BBS4):c.642+20C>T
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NM_033028.5(BBS4):c.642+2T>G
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NM_033028.5(BBS4):c.643-11T>C
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NM_033028.5(BBS4):c.643-19T>C
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NM_033028.5(BBS4):c.656dup (p.Lys220fs)
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NM_033028.5(BBS4):c.657del (p.Lys220fs)
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rs1567427651
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NM_033028.5(BBS4):c.66G>A (p.Arg22=)
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NM_033028.5(BBS4):c.67C>T (p.Gln23Ter)
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NM_033028.5(BBS4):c.683C>T (p.Ala228Val)
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rs2151043996
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NM_033028.5(BBS4):c.6T>G (p.Ala2=)
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NM_033028.5(BBS4):c.701C>A (p.Thr234Asn)
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rs2151044050
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NM_033028.5(BBS4):c.711+12TG[3]
|
rs2065774442
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NM_033028.5(BBS4):c.711+13del
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NM_033028.5(BBS4):c.711+1G>A
|
rs2151044091
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NM_033028.5(BBS4):c.711+8A>T
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NM_033028.5(BBS4):c.712-10A>G
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NM_033028.5(BBS4):c.712-13G>A
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NM_033028.5(BBS4):c.712-15G>C
|
rs2065814889
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NM_033028.5(BBS4):c.726A>G (p.Ala242=)
|
rs1567429245
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NM_033028.5(BBS4):c.732C>T (p.Ser244=)
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NM_033028.5(BBS4):c.740A>G (p.Gln247Arg)
|
rs746471801
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NM_033028.5(BBS4):c.744C>T (p.Thr248=)
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NM_033028.5(BBS4):c.750G>A (p.Gly250=)
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NM_033028.5(BBS4):c.75dup (p.Ala26fs)
|
rs1567398832
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NM_033028.5(BBS4):c.76+10C>T
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NM_033028.5(BBS4):c.76+16C>T
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NM_033028.5(BBS4):c.76+17A>G
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NM_033028.5(BBS4):c.76+19G>C
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NM_033028.5(BBS4):c.76+1G>T
|
rs1465437164
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NM_033028.5(BBS4):c.76+2T>C
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NM_033028.5(BBS4):c.76+3del
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NM_033028.5(BBS4):c.76+7A>G
|
rs2150997373
|
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NM_033028.5(BBS4):c.77-17C>T
|
rs2151016110
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NM_033028.5(BBS4):c.77-216del
|
rs113994189
|
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NM_033028.5(BBS4):c.77-4C>T
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NM_033028.5(BBS4):c.770C>G (p.Thr257Ser)
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NM_033028.5(BBS4):c.775T>A (p.Tyr259Asn)
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NM_033028.5(BBS4):c.776A>T (p.Tyr259Phe)
|
rs146595193
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NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)
|
rs1459736027
|
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NM_033028.5(BBS4):c.77C>T (p.Ala26Val)
|
rs2151016128
|
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NM_033028.5(BBS4):c.780_781del (p.Arg260fs)
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NM_033028.5(BBS4):c.789T>C (p.Ala263=)
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NM_033028.5(BBS4):c.78T>A (p.Ala26=)
|
rs2065330472
|
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NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)
|
rs200113494
|
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NM_033028.5(BBS4):c.797T>G (p.Val266Gly)
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NM_033028.5(BBS4):c.819del (p.Leu272_Trp273insTer)
|
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NM_033028.5(BBS4):c.821A>G (p.Asn274Ser)
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NM_033028.5(BBS4):c.830G>T (p.Gly277Val)
|
rs749017489
|
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NM_033028.5(BBS4):c.836_842del (p.Cys279fs)
|
rs2151047525
|
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NM_033028.5(BBS4):c.837T>C (p.Cys279=)
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NM_033028.5(BBS4):c.84G>A (p.Glu28=)
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NM_033028.5(BBS4):c.858T>C (p.Tyr286=)
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NM_033028.5(BBS4):c.85T>G (p.Phe29Val)
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NM_033028.5(BBS4):c.861G>A (p.Val287=)
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NM_033028.5(BBS4):c.861G>T (p.Val287=)
|
rs1595947650
|
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NM_033028.5(BBS4):c.863C>A (p.Ala288Glu)
|
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NM_033028.5(BBS4):c.864+12del
|
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NM_033028.5(BBS4):c.864+12dup
|
rs1476015172
|
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NM_033028.5(BBS4):c.864+1G>A
|
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NM_033028.5(BBS4):c.864+1G>C
|
rs2151047618
|
|
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NM_033028.5(BBS4):c.864+20C>T
|
rs753099644
|
|
|
NM_033028.5(BBS4):c.864+20_864+23del
|
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NM_033028.5(BBS4):c.864+7G>A
|
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NM_033028.5(BBS4):c.865-13T>C
|
rs371241518
|
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NM_033028.5(BBS4):c.865-16C>G
|
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NM_033028.5(BBS4):c.865-3T>C
|
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NM_033028.5(BBS4):c.865-3_865-2del
|
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|
NM_033028.5(BBS4):c.865-5C>G
|
rs2151047807
|
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NM_033028.5(BBS4):c.865-5C>T
|
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NM_033028.5(BBS4):c.870C>T (p.Ile290=)
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NM_033028.5(BBS4):c.879G>T (p.Leu293=)
|
rs2151047861
|
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NM_033028.5(BBS4):c.87del (p.Pro30fs)
|
|
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|
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)
|
rs121434632
|
|
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NM_033028.5(BBS4):c.885A>C (p.Arg295=)
|
|
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NM_033028.5(BBS4):c.894C>T (p.Tyr298=)
|
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NM_033028.5(BBS4):c.8A>C (p.Glu3Ala)
|
rs113994183
|
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|
NM_033028.5(BBS4):c.906_907inv (p.Asp303Asn)
|
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|
NM_033028.5(BBS4):c.921G>A (p.Leu307=)
|
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NM_033028.5(BBS4):c.921G>C (p.Leu307=)
|
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NM_033028.5(BBS4):c.927T>C (p.Asn309=)
|
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|
|
NM_033028.5(BBS4):c.929del (p.Leu310fs)
|
rs889012564
|
|
|
NM_033028.5(BBS4):c.939C>T (p.Val313=)
|
|
|
|
NM_033028.5(BBS4):c.943T>C (p.Leu315=)
|
rs1433729329
|
|
|
NM_033028.5(BBS4):c.947C>T (p.Thr316Ile)
|
|
|
|
NM_033028.5(BBS4):c.94T>C (p.Leu32=)
|
rs771325848
|
|
|
NM_033028.5(BBS4):c.952C>T (p.Gln318Ter)
|
rs1567430070
|
|
|
NM_033028.5(BBS4):c.956A>G (p.Gln319Arg)
|
rs1595948085
|
|
|
NM_033028.5(BBS4):c.95T>A (p.Leu32Ter)
|
|
|
|
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)
|
rs770891152
|
|
|
NM_033028.5(BBS4):c.961G>C (p.Ala321Pro)
|
|
|
|
NM_033028.5(BBS4):c.984T>C (p.Ser328=)
|
|
|
|
NM_033028.5(BBS4):c.988G>A (p.Ala330Thr)
|
rs2065827621
|
|
|
NM_033028.5(BBS4):c.991A>G (p.Ile331Val)
|
rs1316841175
|
|
|
NM_033028.5(BBS4):c.991A>T (p.Ile331Phe)
|
|
|
|
NM_033028.5(BBS4):c.994A>G (p.Asn332Asp)
|
rs2065827783
|
|
|
NM_033028.5(BBS4):c.998T>A (p.Phe333Tyr)
|
|
|
|
NM_033028.5(BBS4):c.99G>A (p.Glu33=)
|
|
|
|
NM_033028.5(BBS4):c.9G>A (p.Glu3=)
|
|
|