NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)
|
rs200116631
|
0.00003
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
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.479+2T>G
|
rs1353098253
|
0.00002
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
0.00002
|
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)
|
rs1460517643
|
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.416G>A (p.Trp139Ter)
|
rs878855095
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_024649.5(BBS1):c.48-2A>C
|
rs764245266
|
0.00001
|
NM_024649.5(BBS1):c.518+1G>A
|
rs771517209
|
0.00001
|
NM_024649.5(BBS1):c.723+1G>C
|
rs1295318869
|
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_024685.4(BBS10):c.1804G>C (p.Val602Leu)
|
rs778431173
|
0.00001
|
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)
|
rs28938468
|
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.124+1G>C
|
rs1057516449
|
|
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.130del (p.Ala44fs)
|
rs2134765690
|
|
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.158dup (p.Leu54fs)
|
rs1313590454
|
|
NM_024649.5(BBS1):c.159+2T>A
|
rs1057516507
|
|
NM_024649.5(BBS1):c.159+2del
|
rs1348187150
|
|
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.17dup (p.Ser7fs)
|
rs1166022838
|
|
NM_024649.5(BBS1):c.182del (p.Pro61fs)
|
rs1057517007
|
|
NM_024649.5(BBS1):c.1A>C (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.214A>T (p.Lys72Ter)
|
rs1856007963
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024649.5(BBS1):c.319dup (p.Ala107fs)
|
rs1856010064
|
|
NM_024649.5(BBS1):c.345dup (p.Lys116Ter)
|
rs1555046611
|
|
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter)
|
rs1856011738
|
|
NM_024649.5(BBS1):c.433-2A>G
|
rs1555046748
|
|
NM_024649.5(BBS1):c.434dup (p.Asp145fs)
|
|
|
NM_024649.5(BBS1):c.46dup (p.Ser16fs)
|
|
|
NM_024649.5(BBS1):c.47+2T>C
|
rs1182864166
|
|
NM_024649.5(BBS1):c.47+2T>G
|
|
|
NM_024649.5(BBS1):c.48-1G>T
|
rs751753112
|
|
NM_024649.5(BBS1):c.480-1G>C
|
rs1057516933
|
|
NM_024649.5(BBS1):c.519-2A>G
|
rs1057516502
|
|
NM_024649.5(BBS1):c.579dup (p.Ile194fs)
|
|
|
NM_024649.5(BBS1):c.591+1G>A
|
|
|
NM_024649.5(BBS1):c.700G>T (p.Glu234Ter)
|
rs35520756
|
|
NM_024649.5(BBS1):c.70_73del (p.Leu24fs)
|
|
|
NM_024649.5(BBS1):c.71T>A (p.Leu24Ter)
|
rs1855932058
|
|
NM_024649.5(BBS1):c.723+1G>A
|
|
|
NM_024649.5(BBS1):c.723+2T>C
|
|
|
NM_024649.5(BBS1):c.723+2T>G
|
|
|
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
|
|
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter)
|
rs1592492255
|
|
NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)
|
|
|
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)
|
rs1727380420
|
|