NM_033028.5(BBS4):c.208A>G (p.Ile70Val)
|
rs142692981
|
0.00118
|
NM_033028.5(BBS4):c.157-19A>G
|
rs373166573
|
0.00046
|
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.864G>A (p.Ala288=)
|
rs141345544
|
0.00022
|
NM_033028.5(BBS4):c.1107-11G>C
|
rs373344695
|
0.00020
|
NM_033028.5(BBS4):c.1136C>T (p.Ala379Val)
|
rs147269475
|
0.00016
|
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.372T>C (p.Tyr124=)
|
rs141903251
|
0.00012
|
NM_033028.5(BBS4):c.513T>C (p.Tyr171=)
|
rs367882912
|
0.00012
|
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.639A>G (p.Leu213=)
|
rs149663241
|
0.00006
|
NM_033028.5(BBS4):c.643-6T>C
|
rs753675755
|
0.00006
|
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.1311C>G (p.Thr437=)
|
rs945847885
|
0.00004
|
NM_033028.5(BBS4):c.325A>C (p.Arg109=)
|
rs199809442
|
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.1270T>C (p.Leu424=)
|
rs376011637
|
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.12G>A (p.Glu4=)
|
rs543735239
|
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.25-18C>T
|
rs140934493
|
0.00002
|
NM_033028.5(BBS4):c.282A>G (p.Ala94=)
|
rs370868102
|
0.00002
|
NM_033028.5(BBS4):c.1029C>T (p.Leu343=)
|
rs1000977139
|
0.00001
|
NM_033028.5(BBS4):c.1107-19G>C
|
rs763043698
|
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.1249-12T>C
|
rs759275107
|
0.00001
|
NM_033028.5(BBS4):c.1450+10T>C
|
rs886042845
|
0.00001
|
NM_033028.5(BBS4):c.1512G>A (p.Ala504=)
|
rs369958857
|
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.332+8T>C
|
rs1456405256
|
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.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.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.684A>C (p.Ala228=)
|
rs35132058
|
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.777C>T (p.Tyr259=)
|
rs200469783
|
0.00001
|
NM_033028.5(BBS4):c.825C>T (p.Asn275=)
|
rs1439728758
|
0.00001
|
NM_033028.5(BBS4):c.864+9C>T
|
rs775416661
|
0.00001
|
NM_033028.5(BBS4):c.987G>A (p.Ala329=)
|
rs1296549307
|
0.00001
|
NM_033028.5(BBS4):c.1020C>T (p.Leu340=)
|
|
|
NM_033028.5(BBS4):c.1023C>T (p.Tyr341=)
|
|
|
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+8A>G
|
|
|
NM_033028.5(BBS4):c.1074G>A (p.Lys358=)
|
|
|
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.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+7A>C
|
|
|
NM_033028.5(BBS4):c.1106+7A>G
|
|
|
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.1134T>C (p.Tyr378=)
|
|
|
NM_033028.5(BBS4):c.1143G>A (p.Leu381=)
|
|
|
NM_033028.5(BBS4):c.1146G>A (p.Leu382=)
|
|
|
NM_033028.5(BBS4):c.1173C>T (p.Ala391=)
|
|
|
NM_033028.5(BBS4):c.1185T>C (p.Tyr395=)
|
|
|
NM_033028.5(BBS4):c.1191G>A (p.Glu397=)
|
|
|
NM_033028.5(BBS4):c.1209C>T (p.Ser403=)
|
|
|
NM_033028.5(BBS4):c.1224T>C (p.Asn408=)
|
|
|
NM_033028.5(BBS4):c.1227C>T (p.Ser409=)
|
|
|
NM_033028.5(BBS4):c.1248+18T>G
|
|
|
NM_033028.5(BBS4):c.1249-11G>A
|
|
|
NM_033028.5(BBS4):c.1249-15C>A
|
|
|
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.1278T>A (p.Ala426=)
|
|
|
NM_033028.5(BBS4):c.1287G>A (p.Gln429=)
|
|
|
NM_033028.5(BBS4):c.1296G>A (p.Glu432=)
|
|
|
NM_033028.5(BBS4):c.1299A>G (p.Ala433=)
|
|
|
NM_033028.5(BBS4):c.1300C>T (p.Leu434=)
|
|
|
NM_033028.5(BBS4):c.1302G>C (p.Leu434=)
|
|
|
NM_033028.5(BBS4):c.1317A>G (p.Pro439=)
|
|
|
NM_033028.5(BBS4):c.1320T>C (p.Val440=)
|
|
|
NM_033028.5(BBS4):c.1329C>G (p.Pro443=)
|
|
|
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.1377G>A (p.Gln459=)
|
|
|
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
|
|
|
NM_033028.5(BBS4):c.1450+7C>T
|
|
|
NM_033028.5(BBS4):c.1450+9A>G
|
|
|
NM_033028.5(BBS4):c.1451-14T>C
|
|
|
NM_033028.5(BBS4):c.1451-20A>C
|
|
|
NM_033028.5(BBS4):c.1451-20A>G
|
|
|
NM_033028.5(BBS4):c.1451-4C>T
|
|
|
NM_033028.5(BBS4):c.1451-6dup
|
rs770389663
|
|
NM_033028.5(BBS4):c.1451-7T>A
|
|
|
NM_033028.5(BBS4):c.1463C>A (p.Thr488Lys)
|
rs561284402
|
|
NM_033028.5(BBS4):c.1494T>G (p.Pro498=)
|
rs1186383384
|
|
NM_033028.5(BBS4):c.1515G>A (p.Val505=)
|
rs2151058394
|
|
NM_033028.5(BBS4):c.1536A>G (p.Thr512=)
|
|
|
NM_033028.5(BBS4):c.1542A>G (p.Glu514=)
|
|
|
NM_033028.5(BBS4):c.1545A>G (p.Gln515=)
|
|
|
NM_033028.5(BBS4):c.1554G>A (p.Glu518=)
|
|
|
NM_033028.5(BBS4):c.1557A>G (p.Lys519=)
|
|
|
NM_033028.5(BBS4):c.156+10T>G
|
|
|
NM_033028.5(BBS4):c.156+12C>T
|
|
|
NM_033028.5(BBS4):c.156+14A>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
|
|
|
NM_033028.5(BBS4):c.157-15T>G
|
|
|
NM_033028.5(BBS4):c.157-20C>G
|
rs2151019478
|
|
NM_033028.5(BBS4):c.157-4T>C
|
|
|
NM_033028.5(BBS4):c.157-6T>C
|
|
|
NM_033028.5(BBS4):c.157-9C>G
|
|
|
NM_033028.5(BBS4):c.157-9C>T
|
|
|
NM_033028.5(BBS4):c.174G>A (p.Gln58=)
|
|
|
NM_033028.5(BBS4):c.181G>A (p.Glu61Lys)
|
rs1251827333
|
|
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.210C>A (p.Ile70=)
|
|
|
NM_033028.5(BBS4):c.216C>T (p.Val72=)
|
|
|
NM_033028.5(BBS4):c.220+10A>G
|
|
|
NM_033028.5(BBS4):c.220+16_220+18del
|
rs2151019680
|
|
NM_033028.5(BBS4):c.221-14C>T
|
|
|
NM_033028.5(BBS4):c.221-20T>C
|
|
|
NM_033028.5(BBS4):c.223T>C (p.Leu75=)
|
|
|
NM_033028.5(BBS4):c.237A>G (p.Leu79=)
|
|
|
NM_033028.5(BBS4):c.24+11A>T
|
|
|
NM_033028.5(BBS4):c.24+16C>T
|
|
|
NM_033028.5(BBS4):c.24+17T>C
|
|
|
NM_033028.5(BBS4):c.24+18C>T
|
|
|
NM_033028.5(BBS4):c.24+18_24+19del
|
|
|
NM_033028.5(BBS4):c.24+8C>A
|
|
|
NM_033028.5(BBS4):c.243A>G (p.Gly81=)
|
rs2151023302
|
|
NM_033028.5(BBS4):c.246T>C (p.Asn82=)
|
|
|
NM_033028.5(BBS4):c.25-16A>G
|
|
|
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.306T>C (p.Asp102=)
|
rs886706996
|
|
NM_033028.5(BBS4):c.332+14A>T
|
rs980205433
|
|
NM_033028.5(BBS4):c.332+16del
|
|
|
NM_033028.5(BBS4):c.333-10T>C
|
|
|
NM_033028.5(BBS4):c.333-12T>C
|
|
|
NM_033028.5(BBS4):c.333-15A>C
|
|
|
NM_033028.5(BBS4):c.333-18A>G
|
rs760730921
|
|
NM_033028.5(BBS4):c.333-20G>C
|
|
|
NM_033028.5(BBS4):c.333-9C>A
|
|
|
NM_033028.5(BBS4):c.340T>C (p.Leu114=)
|
|
|
NM_033028.5(BBS4):c.342G>A (p.Leu114=)
|
|
|
NM_033028.5(BBS4):c.348A>G (p.Lys116=)
|
|
|
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.39T>G (p.Pro13=)
|
rs990984115
|
|
NM_033028.5(BBS4):c.406-16T>C
|
|
|
NM_033028.5(BBS4):c.406-4C>T
|
rs2151032476
|
|
NM_033028.5(BBS4):c.456C>T (p.Asn152=)
|
|
|
NM_033028.5(BBS4):c.459+13A>G
|
|
|
NM_033028.5(BBS4):c.459+15T>A
|
|
|
NM_033028.5(BBS4):c.460-15T>C
|
|
|
NM_033028.5(BBS4):c.465A>G (p.Gln155=)
|
|
|
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.507G>A (p.Leu169=)
|
|
|
NM_033028.5(BBS4):c.507G>T (p.Leu169=)
|
|
|
NM_033028.5(BBS4):c.520C>T (p.Leu174=)
|
|
|
NM_033028.5(BBS4):c.531C>T (p.Ile177=)
|
rs2065634194
|
|
NM_033028.5(BBS4):c.534C>T (p.His178=)
|
|
|
NM_033028.5(BBS4):c.549C>T (p.Asp183=)
|
|
|
NM_033028.5(BBS4):c.555C>T (p.Asp185=)
|
rs2151034397
|
|
NM_033028.5(BBS4):c.570C>G (p.Val190=)
|
|
|
NM_033028.5(BBS4):c.573C>T (p.Tyr191=)
|
rs781012019
|
|
NM_033028.5(BBS4):c.57A>G (p.Gln19=)
|
|
|
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.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.633C>G (p.Leu211=)
|
|
|
NM_033028.5(BBS4):c.636C>T (p.Tyr212=)
|
rs1239795042
|
|
NM_033028.5(BBS4):c.642+11C>T
|
|
|
NM_033028.5(BBS4):c.642+12T>C
|
|
|
NM_033028.5(BBS4):c.642+13_642+14del
|
|
|
NM_033028.5(BBS4):c.642+14T>A
|
|
|
NM_033028.5(BBS4):c.642+14_642+20del
|
rs886038705
|
|
NM_033028.5(BBS4):c.642+15_642+16del
|
|
|
NM_033028.5(BBS4):c.642+20C>T
|
|
|
NM_033028.5(BBS4):c.643-11T>C
|
|
|
NM_033028.5(BBS4):c.643-19T>C
|
|
|
NM_033028.5(BBS4):c.66G>A (p.Arg22=)
|
|
|
NM_033028.5(BBS4):c.6T>G (p.Ala2=)
|
|
|
NM_033028.5(BBS4):c.711+12TG[3]
|
rs2065774442
|
|
NM_033028.5(BBS4):c.711+13del
|
|
|
NM_033028.5(BBS4):c.711+8A>T
|
|
|
NM_033028.5(BBS4):c.712-10A>G
|
|
|
NM_033028.5(BBS4):c.712-13G>A
|
|
|
NM_033028.5(BBS4):c.712-15G>C
|
rs2065814889
|
|
NM_033028.5(BBS4):c.726A>G (p.Ala242=)
|
rs1567429245
|
|
NM_033028.5(BBS4):c.732C>T (p.Ser244=)
|
|
|
NM_033028.5(BBS4):c.744C>T (p.Thr248=)
|
|
|
NM_033028.5(BBS4):c.750G>A (p.Gly250=)
|
|
|
NM_033028.5(BBS4):c.76+10C>T
|
|
|
NM_033028.5(BBS4):c.76+16C>T
|
|
|
NM_033028.5(BBS4):c.76+17A>G
|
|
|
NM_033028.5(BBS4):c.76+19G>C
|
|
|
NM_033028.5(BBS4):c.76+7A>G
|
rs2150997373
|
|
NM_033028.5(BBS4):c.77-17C>T
|
rs2151016110
|
|
NM_033028.5(BBS4):c.77-4C>T
|
|
|
NM_033028.5(BBS4):c.789T>C (p.Ala263=)
|
|
|
NM_033028.5(BBS4):c.78T>A (p.Ala26=)
|
rs2065330472
|
|
NM_033028.5(BBS4):c.837T>C (p.Cys279=)
|
|
|
NM_033028.5(BBS4):c.84G>A (p.Glu28=)
|
|
|
NM_033028.5(BBS4):c.858T>C (p.Tyr286=)
|
|
|
NM_033028.5(BBS4):c.861G>A (p.Val287=)
|
|
|
NM_033028.5(BBS4):c.861G>T (p.Val287=)
|
rs1595947650
|
|
NM_033028.5(BBS4):c.864+20C>T
|
rs753099644
|
|
NM_033028.5(BBS4):c.864+20_864+23del
|
|
|
NM_033028.5(BBS4):c.864+7G>A
|
|
|
NM_033028.5(BBS4):c.865-13T>C
|
rs371241518
|
|
NM_033028.5(BBS4):c.865-16C>G
|
|
|
NM_033028.5(BBS4):c.865-5C>G
|
rs2151047807
|
|
NM_033028.5(BBS4):c.865-5C>T
|
|
|
NM_033028.5(BBS4):c.870C>T (p.Ile290=)
|
|
|
NM_033028.5(BBS4):c.879G>T (p.Leu293=)
|
rs2151047861
|
|
NM_033028.5(BBS4):c.885A>C (p.Arg295=)
|
|
|
NM_033028.5(BBS4):c.894C>T (p.Tyr298=)
|
|
|
NM_033028.5(BBS4):c.921G>A (p.Leu307=)
|
|
|
NM_033028.5(BBS4):c.921G>C (p.Leu307=)
|
|
|
NM_033028.5(BBS4):c.927T>C (p.Asn309=)
|
|
|
NM_033028.5(BBS4):c.939C>T (p.Val313=)
|
|
|
NM_033028.5(BBS4):c.943T>C (p.Leu315=)
|
rs1433729329
|
|
NM_033028.5(BBS4):c.94T>C (p.Leu32=)
|
rs771325848
|
|
NM_033028.5(BBS4):c.984T>C (p.Ser328=)
|
|
|
NM_033028.5(BBS4):c.99G>A (p.Glu33=)
|
|
|
NM_033028.5(BBS4):c.9G>A (p.Glu3=)
|
|
|