|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
|
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.1110G>A (p.Pro370=)
|
rs183771956
|
0.00002
|
|
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)
|
rs1160669210
|
0.00001
|
|
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
|
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)
|
rs745656125
|
0.00001
|
|
NM_024649.5(BBS1):c.1473+4A>G
|
rs1486200900
|
0.00001
|
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
|
NM_024649.5(BBS1):c.830G>A (p.Arg277Lys)
|
rs1856209517
|
0.00001
|
|
NM_024649.5(BBS1):c.851del (p.Tyr284fs)
|
rs587777830
|
0.00001
|
|
NM_024649.5(BBS1):c.890G>A (p.Arg297Gln)
|
rs372092113
|
0.00001
|
|
NC_000011.9:g.(?_66296758)_(66307295_?)del
|
|
|
|
NM_001348571.2(ZDHHC24):c.560-4178_*21+248del
|
|
|
|
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter)
|
rs869025205
|
|
|
NM_024649.5(BBS1):c.1025dup (p.Leu343fs)
|
rs2134797289
|
|
|
NM_024649.5(BBS1):c.1035_1038del (p.Val346fs)
|
|
|
|
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)
|
rs1057516533
|
|
|
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
|
|
|
|
NM_024649.5(BBS1):c.1110+3G>C
|
rs762276925
|
|
|
NM_024649.5(BBS1):c.1119dup (p.Thr374fs)
|
|
|
|
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg)
|
rs1565287512
|
|
|
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)
|
rs786204701
|
|
|
NM_024649.5(BBS1):c.1214_1215insSVA
|
|
|
|
NM_024649.5(BBS1):c.1232_1235del (p.Gly411fs)
|
rs1555049194
|
|
|
NM_024649.5(BBS1):c.1235del (p.Gly412fs)
|
rs1856517666
|
|
|
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)
|
rs1060503690
|
|
|
NM_024649.5(BBS1):c.1243del (p.Val415fs)
|
rs1590772920
|
|
|
NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter)
|
rs1856520165
|
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
|
NM_024649.5(BBS1):c.1285dup (p.Arg429fs)
|
rs1565287921
|
|
|
NM_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
|
NM_024649.5(BBS1):c.1340-2A>G
|
rs113994180
|
|
|
NM_024649.5(BBS1):c.1383dup (p.Arg462fs)
|
|
|
|
NM_024649.5(BBS1):c.1385_1401dup (p.Leu468fs)
|
rs1166459319
|
|
|
NM_024649.5(BBS1):c.1389_1405dup (p.Gln469fs)
|
|
|
|
NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter)
|
|
|
|
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter)
|
rs1565289799
|
|
|
NM_024649.5(BBS1):c.1405del (p.Gln469fs)
|
|
|
|
NM_024649.5(BBS1):c.1424dup (p.Ser476fs)
|
rs886039798
|
|
|
NM_024649.5(BBS1):c.1432dup (p.Leu478fs)
|
|
|
|
NM_024649.5(BBS1):c.1450G>T (p.Glu484Ter)
|
|
|
|
NM_024649.5(BBS1):c.1473+2T>C
|
rs1856699646
|
|
|
NM_024649.5(BBS1):c.1491del (p.Thr498fs)
|
rs2134836723
|
|
|
NM_024649.5(BBS1):c.1516C>T (p.Gln506Ter)
|
rs2134836882
|
|
|
NM_024649.5(BBS1):c.1564del (p.Leu522fs)
|
rs2134837160
|
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
|
NM_024649.5(BBS1):c.1606A>T (p.Lys536Ter)
|
|
|
|
NM_024649.5(BBS1):c.1614del (p.Leu539fs)
|
rs1856785950
|
|
|
NM_024649.5(BBS1):c.1642del (p.Leu548fs)
|
rs1555050404
|
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
|
NM_024649.5(BBS1):c.1646del (p.Glu549fs)
|
|
|
|
NM_024649.5(BBS1):c.1657G>T (p.Glu553Ter)
|
rs1856788934
|
|
|
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg)
|
rs1565291081
|
|
|
NM_024649.5(BBS1):c.1695+1G>A
|
rs2134841394
|
|
|
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)
|
rs1434577015
|
|
|
NM_024649.5(BBS1):c.724-8_726del
|
rs1856202628
|
|
|
NM_024649.5(BBS1):c.747_748del (p.Phe250fs)
|
|
|
|
NM_024649.5(BBS1):c.752del (p.Leu251fs)
|
rs2134784600
|
|
|
NM_024649.5(BBS1):c.767del (p.Gln256fs)
|
rs1590762360
|
|
|
NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)
|
|
|
|
NM_024649.5(BBS1):c.796_805dup (p.Asn269fs)
|
|
|
|
NM_024649.5(BBS1):c.830+350_1110+217del
|
|
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
|
NM_024649.5(BBS1):c.831-3C>G
|
rs113994179
|
|
|
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)
|
rs1057516427
|
|
|
NM_024649.5(BBS1):c.863T>G (p.Leu288Arg)
|
|
|
|
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)
|
rs1057517143
|
|
|
NM_024649.5(BBS1):c.887del (p.Ile296fs)
|
rs794727006
|
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
|
NM_024649.5(BBS1):c.951+1G>C
|
|
|
|
NM_024649.5(BBS1):c.951+1G>T
|
rs746875134
|
|
|
NM_024649.5(BBS1):c.951+2T>A
|
|
|
|
NM_024649.5(BBS1):c.951+58C>T
|
rs1856346961
|
|
|
NM_024649.5(BBS1):c.952-1G>C
|
rs1057516661
|
|
|
NM_024649.5(BBS1):c.981del (p.Ala328fs)
|
rs1057516371
|
|
|
NM_024649.5(BBS1):c.[1285C>T];[908del]
|
|
|