NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)
|
rs200116631
|
0.00003
|
NM_024649.5(BBS1):c.724-1G>C
|
rs748523268
|
0.00003
|
NM_024649.5(BBS1):c.1110+329C>T
|
rs571170303
|
0.00002
|
NM_024649.5(BBS1):c.1111-2A>G
|
rs761969357
|
0.00001
|
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
NM_024649.5(BBS1):c.830+2T>C
|
rs1856209722
|
0.00001
|
NM_024649.5(BBS1):c.952-1G>A
|
rs1057516661
|
0.00001
|
NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter)
|
rs1856358703
|
|
NM_024649.5(BBS1):c.1009del (p.Glu337fs)
|
|
|
NM_024649.5(BBS1):c.1021delinsGG (p.Arg341fs)
|
|
|
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)
|
rs1057516533
|
|
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn)
|
rs1565286202
|
|
NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter)
|
rs1021331909
|
|
NM_024649.5(BBS1):c.1181_1191del
|
|
|
NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter)
|
rs1421044140
|
|
NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs)
|
|
|
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)
|
rs1060503690
|
|
NM_024649.5(BBS1):c.1253del (p.Pro418fs)
|
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs)
|
rs1555049933
|
|
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer)
|
rs1057516901
|
|
NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter)
|
|
|
NM_024649.5(BBS1):c.1564del (p.Leu522fs)
|
rs2134837160
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
NM_024649.5(BBS1):c.1585dup (p.Ser529fs)
|
rs1555050268
|
|
NM_024649.5(BBS1):c.1608+1G>A
|
rs1856758582
|
|
NM_024649.5(BBS1):c.1609-2A>T
|
rs1555050394
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter)
|
rs1856790811
|
|
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)
|
rs1434577015
|
|
NM_024649.5(BBS1):c.734_735del (p.Pro245fs)
|
|
|
NM_024649.5(BBS1):c.777del (p.Glu260fs)
|
rs1555047786
|
|
NM_024649.5(BBS1):c.786del (p.Ala264fs)
|
rs1057516330
|
|
NM_024649.5(BBS1):c.830+1G>T
|
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)
|
rs1057516427
|
|
NM_024649.5(BBS1):c.855dup (p.Ile286fs)
|
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+2T>G
|
|
|
NM_024649.5(BBS1):c.965G>A (p.Trp322Ter)
|
rs1856354695
|
|
NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)
|
|
|
NM_024649.5(BBS1):c.981del (p.Ala328fs)
|
rs1057516371
|
|