NM_152384.3(BBS5):c.108C>T (p.Ser36=)
|
rs16823066
|
0.02951
|
NM_152384.3(BBS5):c.285C>T (p.Leu95=)
|
rs6752540
|
0.00882
|
NM_152384.3(BBS5):c.501T>A (p.Val167=)
|
rs75690869
|
0.00879
|
NM_152384.3(BBS5):c.620G>A (p.Arg207His)
|
rs35487251
|
0.00625
|
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
|
rs137853921
|
0.00380
|
NM_152384.3(BBS5):c.750C>T (p.Ile250=)
|
rs76138485
|
0.00188
|
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
|
rs143191074
|
0.00187
|
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)
|
rs143113298
|
0.00086
|
NM_152384.3(BBS5):c.197G>A (p.Arg66Lys)
|
rs200250398
|
0.00018
|
NM_152384.3(BBS5):c.468A>G (p.Pro156=)
|
rs200636409
|
0.00017
|
NM_152384.3(BBS5):c.209-19C>A
|
rs564695479
|
0.00011
|
NM_152384.3(BBS5):c.861T>C (p.Asp287=)
|
rs1321191223
|
0.00010
|
NM_152384.3(BBS5):c.824C>T (p.Pro275Leu)
|
rs376275481
|
0.00009
|
NM_152384.3(BBS5):c.523-18C>T
|
rs201051397
|
0.00008
|
NM_152384.3(BBS5):c.60-3T>C
|
rs201553380
|
0.00008
|
NM_152384.3(BBS5):c.816+12A>G
|
rs764194396
|
0.00008
|
NM_152384.3(BBS5):c.143-11T>C
|
rs773551745
|
0.00007
|
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)
|
rs369075832
|
0.00007
|
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn)
|
rs567175904
|
0.00006
|
NM_152384.3(BBS5):c.516T>C (p.Ser172=)
|
rs758562179
|
0.00006
|
NM_152384.3(BBS5):c.542T>C (p.Phe181Ser)
|
rs758508869
|
0.00006
|
NM_152384.3(BBS5):c.190T>C (p.Leu64=)
|
rs777369461
|
0.00005
|
NM_152384.3(BBS5):c.817-5T>G
|
rs780213701
|
0.00005
|
NM_152384.3(BBS5):c.829G>A (p.Glu277Lys)
|
rs754858756
|
0.00005
|
NM_152384.3(BBS5):c.143-1G>C
|
rs1054138918
|
0.00004
|
NM_152384.3(BBS5):c.185T>C (p.Leu62Ser)
|
rs370501865
|
0.00004
|
NM_152384.3(BBS5):c.208+15T>C
|
rs1019098515
|
0.00004
|
NM_152384.3(BBS5):c.475C>T (p.His159Tyr)
|
rs757525125
|
0.00004
|
NM_152384.3(BBS5):c.480A>G (p.Val160=)
|
rs779349158
|
0.00004
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
NM_152384.3(BBS5):c.693T>C (p.Tyr231=)
|
rs150178711
|
0.00004
|
NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys)
|
rs376537695
|
0.00004
|
NM_152384.3(BBS5):c.825G>A (p.Pro275=)
|
rs554049177
|
0.00004
|
NM_152384.3(BBS5):c.110T>C (p.Ile37Thr)
|
rs370849006
|
0.00003
|
NM_152384.3(BBS5):c.568C>T (p.His190Tyr)
|
rs1264901746
|
0.00003
|
NM_152384.3(BBS5):c.600T>C (p.Ser200=)
|
rs1229922724
|
0.00003
|
NM_152384.3(BBS5):c.668A>T (p.Glu223Val)
|
rs775524491
|
0.00003
|
NM_152384.3(BBS5):c.808G>A (p.Glu270Lys)
|
rs199846010
|
0.00003
|
NM_152384.3(BBS5):c.226A>G (p.Ile76Val)
|
rs763696357
|
0.00002
|
NM_152384.3(BBS5):c.229T>A (p.Leu77Met)
|
rs753387321
|
0.00002
|
NM_152384.3(BBS5):c.462G>C (p.Leu154=)
|
rs767240340
|
0.00002
|
NM_152384.3(BBS5):c.619-9T>C
|
rs755143488
|
0.00002
|
NM_152384.3(BBS5):c.786A>C (p.Ile262=)
|
rs769669565
|
0.00002
|
NM_152384.3(BBS5):c.792A>T (p.Gly264=)
|
rs773030426
|
0.00002
|
NM_152384.3(BBS5):c.925-15C>T
|
rs776117757
|
0.00002
|
NM_152384.3(BBS5):c.935G>A (p.Arg312His)
|
rs751420732
|
0.00002
|
NM_152384.3(BBS5):c.979T>C (p.Leu327=)
|
rs371959839
|
0.00002
|
NM_152384.3(BBS5):c.133G>A (p.Gly45Arg)
|
rs1244934291
|
0.00001
|
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser)
|
rs754978707
|
0.00001
|
NM_152384.3(BBS5):c.209-1G>A
|
rs1172161975
|
0.00001
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)
|
rs121908581
|
0.00001
|
NM_152384.3(BBS5):c.259-3C>T
|
rs564412855
|
0.00001
|
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)
|
rs772757329
|
0.00001
|
NM_152384.3(BBS5):c.266G>A (p.Arg89Gln)
|
rs931751345
|
0.00001
|
NM_152384.3(BBS5):c.276T>C (p.Thr92=)
|
rs775970045
|
0.00001
|
NM_152384.3(BBS5):c.287A>G (p.Tyr96Cys)
|
rs763784832
|
0.00001
|
NM_152384.3(BBS5):c.325A>G (p.Ile109Val)
|
rs758307712
|
0.00001
|
NM_152384.3(BBS5):c.332C>T (p.Thr111Ile)
|
rs375992092
|
0.00001
|
NM_152384.3(BBS5):c.364A>G (p.Thr122Ala)
|
rs1244656681
|
0.00001
|
NM_152384.3(BBS5):c.386+16A>G
|
rs1454698956
|
0.00001
|
NM_152384.3(BBS5):c.413G>A (p.Arg138His)
|
rs179363897
|
0.00001
|
NM_152384.3(BBS5):c.472G>A (p.Glu158Lys)
|
rs1683625962
|
0.00001
|
NM_152384.3(BBS5):c.523-11G>A
|
rs756035013
|
0.00001
|
NM_152384.3(BBS5):c.60-10T>G
|
rs1224093899
|
0.00001
|
NM_152384.3(BBS5):c.633T>C (p.Ile211=)
|
rs1245371466
|
0.00001
|
NM_152384.3(BBS5):c.664A>G (p.Ile222Val)
|
rs146488006
|
0.00001
|
NM_152384.3(BBS5):c.675T>G (p.Ser225=)
|
rs1299275211
|
0.00001
|
NM_152384.3(BBS5):c.681+9T>C
|
rs751819870
|
0.00001
|
NM_152384.3(BBS5):c.817-1G>T
|
rs1466289570
|
0.00001
|
NM_152384.3(BBS5):c.826C>T (p.Leu276Phe)
|
rs770319545
|
0.00001
|
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys)
|
rs759233586
|
0.00001
|
NM_152384.3(BBS5):c.887C>T (p.Thr296Met)
|
rs755594935
|
0.00001
|
NM_152384.3(BBS5):c.888G>A (p.Thr296=)
|
rs777702222
|
0.00001
|
NM_152384.3(BBS5):c.900G>C (p.Val300=)
|
rs757001492
|
0.00001
|
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr)
|
rs1395749164
|
0.00001
|
BBS5, 8-BP DEL/7-BP INS, NT263
|
|
|
NC_000002.11:g.(?_170336064)_(170336142_?)del
|
|
|
NC_000002.11:g.(?_170349364)_(170350366_?)del
|
|
|
NC_000002.11:g.(?_170359585)_(170361092_?)del
|
|
|
NC_000002.12:g.(?_169492874)_(169493836_?)del
|
|
|
NM_152384.2(BBS5):c.925_931del
|
|
|
NM_152384.3(BBS5):c.1001A>G (p.Gln334Arg)
|
rs2105304403
|
|
NM_152384.3(BBS5):c.1003G>C (p.Gly335Arg)
|
|
|
NM_152384.3(BBS5):c.1005A>G (p.Gly335=)
|
|
|
NM_152384.3(BBS5):c.1009T>C (p.Trp337Arg)
|
|
|
NM_152384.3(BBS5):c.1023T>C (p.Ser341=)
|
rs1488371231
|
|
NM_152384.3(BBS5):c.106T>A (p.Ser36Thr)
|
rs1683411036
|
|
NM_152384.3(BBS5):c.108C>A (p.Ser36=)
|
|
|
NM_152384.3(BBS5):c.120C>A (p.Thr40=)
|
|
|
NM_152384.3(BBS5):c.123del (p.Gly42fs)
|
rs1272140892
|
|
NM_152384.3(BBS5):c.135A>G (p.Gly45=)
|
|
|
NM_152384.3(BBS5):c.142+19G>A
|
|
|
NM_152384.3(BBS5):c.142+1G>T
|
rs2105291750
|
|
NM_152384.3(BBS5):c.142+1del
|
|
|
NM_152384.3(BBS5):c.142+3G>T
|
rs2105291754
|
|
NM_152384.3(BBS5):c.142+3_142+10dup
|
rs1476627714
|
|
NM_152384.3(BBS5):c.142+9A>G
|
rs2105291758
|
|
NM_152384.3(BBS5):c.143-12G>C
|
|
|
NM_152384.3(BBS5):c.143-13TG[2]
|
|
|
NM_152384.3(BBS5):c.143-19T>C
|
|
|
NM_152384.3(BBS5):c.143-1G>A
|
rs1054138918
|
|
NM_152384.3(BBS5):c.143-7C>T
|
rs1574336588
|
|
NM_152384.3(BBS5):c.164T>C (p.Leu55Ser)
|
|
|
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly)
|
rs1559121920
|
|
NM_152384.3(BBS5):c.171T>C (p.Ile57=)
|
|
|
NM_152384.3(BBS5):c.174C>G (p.Leu58=)
|
rs1683499085
|
|
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)
|
rs767221160
|
|
NM_152384.3(BBS5):c.180C>T (p.His60=)
|
|
|
NM_152384.3(BBS5):c.189A>T (p.Ala63=)
|
|
|
NM_152384.3(BBS5):c.198del (p.Val67fs)
|
|
|
NM_152384.3(BBS5):c.208+13G>T
|
|
|
NM_152384.3(BBS5):c.208+5G>T
|
rs745646726
|
|
NM_152384.3(BBS5):c.209-17T>C
|
|
|
NM_152384.3(BBS5):c.209-19C>T
|
|
|
NM_152384.3(BBS5):c.209-9G>A
|
|
|
NM_152384.3(BBS5):c.210T>C (p.Ser70=)
|
|
|
NM_152384.3(BBS5):c.211G>A (p.Val71Ile)
|
rs1397496181
|
|
NM_152384.3(BBS5):c.219C>T (p.Tyr73=)
|
rs2105294702
|
|
NM_152384.3(BBS5):c.237T>C (p.Ile79=)
|
|
|
NM_152384.3(BBS5):c.246G>A (p.Arg82=)
|
|
|
NM_152384.3(BBS5):c.255C>T (p.Asn85=)
|
|
|
NM_152384.3(BBS5):c.258+14A>G
|
|
|
NM_152384.3(BBS5):c.258+14dup
|
|
|
NM_152384.3(BBS5):c.258+19A>G
|
|
|
NM_152384.3(BBS5):c.258+2T>C
|
rs1559122157
|
|
NM_152384.3(BBS5):c.258+5G>A
|
|
|
NM_152384.3(BBS5):c.258+7C>G
|
|
|
NM_152384.3(BBS5):c.259-10_259-6dup
|
|
|
NM_152384.3(BBS5):c.259-12T>A
|
|
|
NM_152384.3(BBS5):c.259-13T>A
|
|
|
NM_152384.3(BBS5):c.259-1G>A
|
|
|
NM_152384.3(BBS5):c.259-3C>G
|
rs564412855
|
|
NM_152384.3(BBS5):c.259-7C>G
|
|
|
NM_152384.3(BBS5):c.259-8C>T
|
|
|
NM_152384.3(BBS5):c.283C>G (p.Leu95Val)
|
|
|
NM_152384.3(BBS5):c.293T>C (p.Leu98Pro)
|
|
|
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
|
rs1683515617
|
|
NM_152384.3(BBS5):c.313C>T (p.Arg105Cys)
|
rs764755791
|
|
NM_152384.3(BBS5):c.342T>G (p.Val114=)
|
|
|
NM_152384.3(BBS5):c.345T>G (p.Pro115=)
|
|
|
NM_152384.3(BBS5):c.347G>A (p.Gly116Glu)
|
rs1683516352
|
|
NM_152384.3(BBS5):c.347G>C (p.Gly116Ala)
|
rs1683516352
|
|
NM_152384.3(BBS5):c.353C>G (p.Pro118Arg)
|
|
|
NM_152384.3(BBS5):c.365C>A (p.Thr122Asn)
|
|
|
NM_152384.3(BBS5):c.365C>T (p.Thr122Ile)
|
rs74271896
|
|
NM_152384.3(BBS5):c.381A>T (p.Val127=)
|
|
|
NM_152384.3(BBS5):c.386+10T>C
|
|
|
NM_152384.3(BBS5):c.386+11A>G
|
|
|
NM_152384.3(BBS5):c.386+13T>C
|
|
|
NM_152384.3(BBS5):c.386+1G>T
|
rs1559122277
|
|
NM_152384.3(BBS5):c.387-10T>G
|
|
|
NM_152384.3(BBS5):c.387-14del
|
|
|
NM_152384.3(BBS5):c.387-15_387-12del
|
rs756793669
|
|
NM_152384.3(BBS5):c.387-18G>C
|
|
|
NM_152384.3(BBS5):c.387-3T>C
|
|
|
NM_152384.3(BBS5):c.387-4A>T
|
|
|
NM_152384.3(BBS5):c.399T>C (p.Thr133=)
|
|
|
NM_152384.3(BBS5):c.406del (p.Met136fs)
|
rs2105297751
|
|
NM_152384.3(BBS5):c.413G>C (p.Arg138Pro)
|
|
|
NM_152384.3(BBS5):c.420dup (p.Lys141Ter)
|
|
|
NM_152384.3(BBS5):c.424T>C (p.Leu142=)
|
|
|
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)
|
rs1574339529
|
|
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)
|
rs1574339529
|
|
NM_152384.3(BBS5):c.428G>A (p.Arg143Lys)
|
|
|
NM_152384.3(BBS5):c.444del (p.Asn149fs)
|
|
|
NM_152384.3(BBS5):c.449A>G (p.Lys150Arg)
|
rs1214512447
|
|
NM_152384.3(BBS5):c.452A>C (p.Gln151Pro)
|
|
|
NM_152384.3(BBS5):c.477T>C (p.His159=)
|
|
|
NM_152384.3(BBS5):c.479T>C (p.Val160Ala)
|
|
|
NM_152384.3(BBS5):c.492A>C (p.Ile164=)
|
|
|
NM_152384.3(BBS5):c.520C>T (p.Gln174Ter)
|
rs2105297825
|
|
NM_152384.3(BBS5):c.522+10A>G
|
|
|
NM_152384.3(BBS5):c.522+3A>G
|
rs587777828
|
|
NM_152384.3(BBS5):c.522+4T>C
|
rs2105297829
|
|
NM_152384.3(BBS5):c.522+8G>A
|
|
|
NM_152384.3(BBS5):c.523-10T>C
|
|
|
NM_152384.3(BBS5):c.523-20C>G
|
rs2105298167
|
|
NM_152384.3(BBS5):c.523-4A>G
|
|
|
NM_152384.3(BBS5):c.523-5del
|
|
|
NM_152384.3(BBS5):c.531A>G (p.Leu177=)
|
rs2105298185
|
|
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)
|
rs786205636
|
|
NM_152384.3(BBS5):c.536C>T (p.Thr179Ile)
|
rs1272114286
|
|
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)
|
rs121908582
|
|
NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn)
|
|
|
NM_152384.3(BBS5):c.556_557delinsTA (p.Arg186Ter)
|
|
|
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs)
|
rs1683644409
|
|
NM_152384.3(BBS5):c.562dup (p.Val188fs)
|
|
|
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)
|
rs1683644662
|
|
NM_152384.3(BBS5):c.569A>C (p.His190Pro)
|
rs755408078
|
|
NM_152384.3(BBS5):c.576T>C (p.Asn192=)
|
|
|
NM_152384.3(BBS5):c.598A>G (p.Ser200Gly)
|
rs2105298246
|
|
NM_152384.3(BBS5):c.60-11A>G
|
|
|
NM_152384.3(BBS5):c.60-14T>C
|
|
|
NM_152384.3(BBS5):c.60-17C>T
|
|
|
NM_152384.3(BBS5):c.60-19A>G
|
rs2105291694
|
|
NM_152384.3(BBS5):c.60-19A>T
|
|
|
NM_152384.3(BBS5):c.60-2A>C
|
|
|
NM_152384.3(BBS5):c.60-7A>T
|
|
|
NM_152384.3(BBS5):c.60-9T>G
|
|
|
NM_152384.3(BBS5):c.603A>G (p.Ile201Met)
|
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NM_152384.3(BBS5):c.607T>C (p.Tyr203His)
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NM_152384.3(BBS5):c.618+10T>C
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NM_152384.3(BBS5):c.618+11dup
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NM_152384.3(BBS5):c.618+12C>A
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NM_152384.3(BBS5):c.618+12C>T
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NM_152384.3(BBS5):c.618+14_618+18del
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rs2105298276
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NM_152384.3(BBS5):c.618+20T>A
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rs2105298279
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NM_152384.3(BBS5):c.619-16_619-15del
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rs762885469
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NM_152384.3(BBS5):c.619-19_619-14del
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rs776922529
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NM_152384.3(BBS5):c.619C>T (p.Arg207Cys)
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NM_152384.3(BBS5):c.623C>T (p.Ser208Leu)
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NM_152384.3(BBS5):c.642A>G (p.Ser214=)
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NM_152384.3(BBS5):c.649G>A (p.Gly217Ser)
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rs1427534237
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NM_152384.3(BBS5):c.655del (p.Ala219fs)
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rs2105300418
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NM_152384.3(BBS5):c.658C>T (p.Leu220Phe)
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NM_152384.3(BBS5):c.670A>C (p.Ser224Arg)
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NM_152384.3(BBS5):c.674C>G (p.Ser225Cys)
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rs776533440
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NM_152384.3(BBS5):c.681+10T>G
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NM_152384.3(BBS5):c.681+13A>G
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NM_152384.3(BBS5):c.681+15A>C
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NM_152384.3(BBS5):c.681+15A>G
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rs1262881139
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NM_152384.3(BBS5):c.681+19T>C
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NM_152384.3(BBS5):c.681+1G>T
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NM_152384.3(BBS5):c.681+8C>G
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NM_152384.3(BBS5):c.682-16A>T
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NM_152384.3(BBS5):c.682-1G>A
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NM_152384.3(BBS5):c.682-20T>A
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NM_152384.3(BBS5):c.682-5T>C
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rs1256635364
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NM_152384.3(BBS5):c.682-6T>A
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NM_152384.3(BBS5):c.682-7C>A
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NM_152384.3(BBS5):c.682-9C>A
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NM_152384.3(BBS5):c.689G>A (p.Gly230Glu)
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rs1683759336
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NM_152384.3(BBS5):c.708A>G (p.Lys236=)
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NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)
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rs1471916487
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NM_152384.3(BBS5):c.714T>A (p.Asp238Glu)
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NM_152384.3(BBS5):c.720G>A (p.Val240=)
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NM_152384.3(BBS5):c.729A>T (p.Leu243=)
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NM_152384.3(BBS5):c.740T>G (p.Val247Gly)
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NM_152384.3(BBS5):c.748A>C (p.Ile250Leu)
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rs2105301621
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NM_152384.3(BBS5):c.752A>G (p.Asn251Ser)
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rs779916920
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NM_152384.3(BBS5):c.764A>G (p.Lys255Arg)
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rs2105301646
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NM_152384.3(BBS5):c.776C>T (p.Ala259Val)
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rs1246115410
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NM_152384.3(BBS5):c.788T>C (p.Phe263Ser)
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rs969475017
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NM_152384.3(BBS5):c.789T>C (p.Phe263=)
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NM_152384.3(BBS5):c.790G>A (p.Gly264Arg)
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rs2105301667
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NM_152384.3(BBS5):c.791G>T (p.Gly264Val)
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rs1574342816
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NM_152384.3(BBS5):c.799T>G (p.Tyr267Asp)
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NM_152384.3(BBS5):c.814A>G (p.Lys272Glu)
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rs763705177
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NM_152384.3(BBS5):c.816+15A>T
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NM_152384.3(BBS5):c.816+17G>A
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NM_152384.3(BBS5):c.816+7T>C
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NM_152384.3(BBS5):c.817-10T>A
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rs1683838280
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NM_152384.3(BBS5):c.817-1G>A
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rs1466289570
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NM_152384.3(BBS5):c.825G>T (p.Pro275=)
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NM_152384.3(BBS5):c.828C>T (p.Leu276=)
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NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)
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NM_152384.3(BBS5):c.839C>A (p.Thr280Lys)
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rs1683839253
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NM_152384.3(BBS5):c.843C>T (p.Val281=)
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NM_152384.3(BBS5):c.844G>T (p.Glu282Ter)
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NM_152384.3(BBS5):c.855A>G (p.Gln285=)
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NM_152384.3(BBS5):c.867A>G (p.Glu289=)
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rs767142551
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NM_152384.3(BBS5):c.873C>T (p.Asp291=)
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rs924567585
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NM_152384.3(BBS5):c.875C>G (p.Ser292Cys)
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rs2105303568
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NM_152384.3(BBS5):c.885C>T (p.His295=)
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rs752240452
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NM_152384.3(BBS5):c.88C>T (p.Leu30Phe)
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NM_152384.3(BBS5):c.890A>T (p.Asp297Val)
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NM_152384.3(BBS5):c.894T>G (p.Ala298=)
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NM_152384.3(BBS5):c.896T>C (p.Phe299Ser)
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NM_152384.3(BBS5):c.898del (p.Val300fs)
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rs2105303591
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NM_152384.3(BBS5):c.900+9C>A
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NM_152384.3(BBS5):c.901-11T>G
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NM_152384.3(BBS5):c.901-6T>C
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NM_152384.3(BBS5):c.902C>T (p.Ala301Val)
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rs2105304210
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NM_152384.3(BBS5):c.906T>C (p.Tyr302=)
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NM_152384.3(BBS5):c.913G>T (p.Asp305Tyr)
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rs1683861388
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NM_152384.3(BBS5):c.918C>A (p.Gly306=)
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NM_152384.3(BBS5):c.924+11T>G
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NM_152384.3(BBS5):c.924+12T>A
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NM_152384.3(BBS5):c.924+16T>G
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NM_152384.3(BBS5):c.925-19C>G
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NM_152384.3(BBS5):c.925-3A>G
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rs2105304333
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NM_152384.3(BBS5):c.925-4A>G
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NM_152384.3(BBS5):c.925C>T (p.Gln309Ter)
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rs2105304338
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NM_152384.3(BBS5):c.944_960del (p.Val315fs)
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NM_152384.3(BBS5):c.960G>A (p.Leu320=)
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NM_152384.3(BBS5):c.963G>A (p.Gly321=)
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NM_152384.3(BBS5):c.966T>G (p.Leu322=)
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rs1683865980
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NM_152384.3(BBS5):c.966dup (p.Ala323fs)
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rs1553529427
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NM_152384.3(BBS5):c.969A>C (p.Ala323=)
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NM_152384.3(BBS5):c.977_978del (p.Lys326fs)
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rs2105304387
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NM_152384.3(BBS5):c.999A>G (p.Leu333=)
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NM_152384.3:c.(?_-60)_(386+1_387-1)del
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