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.523-18C>T
|
rs201051397
|
0.00008
|
NM_152384.3(BBS5):c.60-3T>C
|
rs201553380
|
0.00008
|
NM_152384.3(BBS5):c.143-11T>C
|
rs773551745
|
0.00007
|
NM_152384.3(BBS5):c.516T>C (p.Ser172=)
|
rs758562179
|
0.00006
|
NM_152384.3(BBS5):c.190T>C (p.Leu64=)
|
rs777369461
|
0.00005
|
NM_152384.3(BBS5):c.208+15T>C
|
rs1019098515
|
0.00004
|
NM_152384.3(BBS5):c.480A>G (p.Val160=)
|
rs779349158
|
0.00004
|
NM_152384.3(BBS5):c.693T>C (p.Tyr231=)
|
rs150178711
|
0.00004
|
NM_152384.3(BBS5):c.825G>A (p.Pro275=)
|
rs554049177
|
0.00004
|
NM_152384.3(BBS5):c.600T>C (p.Ser200=)
|
rs1229922724
|
0.00003
|
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.979T>C (p.Leu327=)
|
rs371959839
|
0.00002
|
NM_152384.3(BBS5):c.276T>C (p.Thr92=)
|
rs775970045
|
0.00001
|
NM_152384.3(BBS5):c.386+16A>G
|
rs1454698956
|
0.00001
|
NM_152384.3(BBS5):c.523-11G>A
|
rs756035013
|
0.00001
|
NM_152384.3(BBS5):c.633T>C (p.Ile211=)
|
rs1245371466
|
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.888G>A (p.Thr296=)
|
rs777702222
|
0.00001
|
NM_152384.3(BBS5):c.1005A>G (p.Gly335=)
|
|
|
NM_152384.3(BBS5):c.1023T>C (p.Ser341=)
|
rs1488371231
|
|
NM_152384.3(BBS5):c.108C>A (p.Ser36=)
|
|
|
NM_152384.3(BBS5):c.120C>A (p.Thr40=)
|
|
|
NM_152384.3(BBS5):c.135A>G (p.Gly45=)
|
|
|
NM_152384.3(BBS5):c.142+19G>A
|
|
|
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.143-7C>T
|
rs1574336588
|
|
NM_152384.3(BBS5):c.171T>C (p.Ile57=)
|
|
|
NM_152384.3(BBS5):c.174C>G (p.Leu58=)
|
rs1683499085
|
|
NM_152384.3(BBS5):c.180C>T (p.His60=)
|
|
|
NM_152384.3(BBS5):c.189A>T (p.Ala63=)
|
|
|
NM_152384.3(BBS5):c.208+13G>T
|
|
|
NM_152384.3(BBS5):c.209-17T>C
|
|
|
NM_152384.3(BBS5):c.209-19C>T
|
|
|
NM_152384.3(BBS5):c.210T>C (p.Ser70=)
|
|
|
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+19A>G
|
|
|
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.259-7C>G
|
|
|
NM_152384.3(BBS5):c.259-8C>T
|
|
|
NM_152384.3(BBS5):c.342T>G (p.Val114=)
|
|
|
NM_152384.3(BBS5):c.345T>G (p.Pro115=)
|
|
|
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.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.387-4A>T
|
|
|
NM_152384.3(BBS5):c.399T>C (p.Thr133=)
|
|
|
NM_152384.3(BBS5):c.424T>C (p.Leu142=)
|
|
|
NM_152384.3(BBS5):c.477T>C (p.His159=)
|
|
|
NM_152384.3(BBS5):c.492A>C (p.Ile164=)
|
|
|
NM_152384.3(BBS5):c.522+10A>G
|
|
|
NM_152384.3(BBS5):c.522+8G>A
|
|
|
NM_152384.3(BBS5):c.523-4A>G
|
|
|
NM_152384.3(BBS5):c.531A>G (p.Leu177=)
|
rs2105298185
|
|
NM_152384.3(BBS5):c.576T>C (p.Asn192=)
|
|
|
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.60-7A>T
|
|
|
NM_152384.3(BBS5):c.60-9T>G
|
|
|
NM_152384.3(BBS5):c.618+10T>C
|
|
|
NM_152384.3(BBS5):c.618+11dup
|
|
|
NM_152384.3(BBS5):c.618+12C>A
|
|
|
NM_152384.3(BBS5):c.618+12C>T
|
|
|
NM_152384.3(BBS5):c.618+14_618+18del
|
rs2105298276
|
|
NM_152384.3(BBS5):c.618+20T>A
|
rs2105298279
|
|
NM_152384.3(BBS5):c.619-16_619-15del
|
rs762885469
|
|
NM_152384.3(BBS5):c.619-19_619-14del
|
rs776922529
|
|
NM_152384.3(BBS5):c.642A>G (p.Ser214=)
|
|
|
NM_152384.3(BBS5):c.681+10T>G
|
|
|
NM_152384.3(BBS5):c.681+13A>G
|
|
|
NM_152384.3(BBS5):c.681+15A>C
|
|
|
NM_152384.3(BBS5):c.681+15A>G
|
rs1262881139
|
|
NM_152384.3(BBS5):c.681+19T>C
|
|
|
NM_152384.3(BBS5):c.681+8C>G
|
|
|
NM_152384.3(BBS5):c.682-16A>T
|
|
|
NM_152384.3(BBS5):c.682-20T>A
|
|
|
NM_152384.3(BBS5):c.682-5T>C
|
rs1256635364
|
|
NM_152384.3(BBS5):c.682-6T>A
|
|
|
NM_152384.3(BBS5):c.682-7C>A
|
|
|
NM_152384.3(BBS5):c.682-9C>A
|
|
|
NM_152384.3(BBS5):c.708A>G (p.Lys236=)
|
|
|
NM_152384.3(BBS5):c.720G>A (p.Val240=)
|
|
|
NM_152384.3(BBS5):c.729A>T (p.Leu243=)
|
|
|
NM_152384.3(BBS5):c.789T>C (p.Phe263=)
|
|
|
NM_152384.3(BBS5):c.816+15A>T
|
|
|
NM_152384.3(BBS5):c.816+17G>A
|
|
|
NM_152384.3(BBS5):c.816+7T>C
|
|
|
NM_152384.3(BBS5):c.825G>T (p.Pro275=)
|
|
|
NM_152384.3(BBS5):c.828C>T (p.Leu276=)
|
|
|
NM_152384.3(BBS5):c.843C>T (p.Val281=)
|
|
|
NM_152384.3(BBS5):c.855A>G (p.Gln285=)
|
|
|
NM_152384.3(BBS5):c.867A>G (p.Glu289=)
|
rs767142551
|
|
NM_152384.3(BBS5):c.873C>T (p.Asp291=)
|
rs924567585
|
|
NM_152384.3(BBS5):c.885C>T (p.His295=)
|
rs752240452
|
|
NM_152384.3(BBS5):c.894T>G (p.Ala298=)
|
|
|
NM_152384.3(BBS5):c.900+9C>A
|
|
|
NM_152384.3(BBS5):c.901-11T>G
|
|
|
NM_152384.3(BBS5):c.901-6T>C
|
|
|
NM_152384.3(BBS5):c.906T>C (p.Tyr302=)
|
|
|
NM_152384.3(BBS5):c.918C>A (p.Gly306=)
|
|
|
NM_152384.3(BBS5):c.924+11T>G
|
|
|
NM_152384.3(BBS5):c.924+12T>A
|
|
|
NM_152384.3(BBS5):c.924+16T>G
|
|
|
NM_152384.3(BBS5):c.925-19C>G
|
|
|
NM_152384.3(BBS5):c.960G>A (p.Leu320=)
|
|
|
NM_152384.3(BBS5):c.963G>A (p.Gly321=)
|
|
|
NM_152384.3(BBS5):c.966T>G (p.Leu322=)
|
rs1683865980
|
|
NM_152384.3(BBS5):c.969A>C (p.Ala323=)
|
|
|
NM_152384.3(BBS5):c.999A>G (p.Leu333=)
|
|
|