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_024685.4(BBS10):c.1244del (p.His415fs)
|
rs760642305
|
0.00002
|
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)
|
rs1460517643
|
0.00002
|
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)
|
rs1555202584
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573
|
0.00001
|
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)
|
rs786204575
|
0.00001
|
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)
|
rs778431173
|
0.00001
|
NM_024685.4(BBS10):c.1839T>A (p.Tyr613Ter)
|
rs1951755742
|
0.00001
|
NM_024685.4(BBS10):c.340del (p.Gln114fs)
|
rs1191479533
|
0.00001
|
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)
|
rs1555202697
|
0.00001
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
NC_000012.12:g.(?_76345803)_(76348368_?)del
|
|
|
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp)
|
rs1363498219
|
|
NM_024685.4(BBS10):c.1024dup (p.Ile342fs)
|
rs869025210
|
|
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)
|
rs587777837
|
|
NM_024685.4(BBS10):c.1064del (p.Gln355fs)
|
rs1555202654
|
|
NM_024685.4(BBS10):c.1068del (p.Ser358fs)
|
|
|
NM_024685.4(BBS10):c.1080_1081del (p.Cys360_Glu361delinsTer)
|
rs2136090624
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1122dup (p.Ile375fs)
|
rs753604828
|
|
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter)
|
rs1340165752
|
|
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
|
rs1368733646
|
|
NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs)
|
rs1555202636
|
|
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter)
|
rs202228478
|
|
NM_024685.4(BBS10):c.1225del (p.Gln409fs)
|
|
|
NM_024685.4(BBS10):c.1227del (p.Gln409fs)
|
|
|
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)
|
rs1057517156
|
|
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
|
|
|
NM_024685.4(BBS10):c.1264del (p.Arg422fs)
|
|
|
NM_024685.4(BBS10):c.1272del (p.Leu424fs)
|
|
|
NM_024685.4(BBS10):c.1290_1293del (p.Asn431fs)
|
rs2136090423
|
|
NM_024685.4(BBS10):c.1315del (p.Gln439fs)
|
rs1592491950
|
|
NM_024685.4(BBS10):c.1330del (p.Ser444fs)
|
rs2136090382
|
|
NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs)
|
rs1389599028
|
|
NM_024685.4(BBS10):c.1338dup (p.Ile447fs)
|
|
|
NM_024685.4(BBS10):c.1341_1344del (p.Tyr448fs)
|
|
|
NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter)
|
rs778731343
|
|
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)
|
rs759682922
|
|
NM_024685.4(BBS10):c.1399del (p.Arg467fs)
|
|
|
NM_024685.4(BBS10):c.1447dup (p.Thr483fs)
|
rs759185809
|
|
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs)
|
rs786204705
|
|
NM_024685.4(BBS10):c.1452_1455del (p.Gln484fs)
|
rs1565809597
|
|
NM_024685.4(BBS10):c.1453dup (p.Thr485fs)
|
rs2136090243
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)
|
rs886043841
|
|
NM_024685.4(BBS10):c.1514_1520del (p.Pro505fs)
|
rs1951758972
|
|
NM_024685.4(BBS10):c.1527dup (p.Thr510fs)
|
|
|
NM_024685.4(BBS10):c.152dup (p.Gly52fs)
|
|
|
NM_024685.4(BBS10):c.1532dup (p.Thr512fs)
|
|
|
NM_024685.4(BBS10):c.1542del (p.Asp515fs)
|
rs1057517031
|
|
NM_024685.4(BBS10):c.1547del (p.Thr516fs)
|
rs869025211
|
|
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter)
|
rs1951758601
|
|
NM_024685.4(BBS10):c.1556_1557del (p.Thr519fs)
|
rs2136090126
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)
|
rs1951757988
|
|
NM_024685.4(BBS10):c.1619T>G (p.Leu540Ter)
|
|
|
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
|
|
|
NM_024685.4(BBS10):c.1654G>T (p.Gly552Ter)
|
rs2136090024
|
|
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)
|
rs1565809478
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
|
|
|
NM_024685.4(BBS10):c.1702del (p.Thr568fs)
|
|
|
NM_024685.4(BBS10):c.1724del (p.Pro575fs)
|
rs1057516754
|
|
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
NM_024685.4(BBS10):c.1767C>G (p.Tyr589Ter)
|
|
|
NM_024685.4(BBS10):c.1795_1796del (p.Val599fs)
|
|
|
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
|
|
|
NM_024685.4(BBS10):c.1812dup (p.Asn605Ter)
|
|
|
NM_024685.4(BBS10):c.1814_1815del (p.Asn605fs)
|
rs2136089877
|
|
NM_024685.4(BBS10):c.1834del (p.Tyr612fs)
|
rs2136089858
|
|
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)
|
rs768385647
|
|
NM_024685.4(BBS10):c.1892_1896del (p.Met631fs)
|
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)
|
|
|
NM_024685.4(BBS10):c.1959del (p.Pro655fs)
|
rs1057516628
|
|
NM_024685.4(BBS10):c.197+1G>A
|
rs886042729
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.1971_1975del (p.Tyr658fs)
|
|
|
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser)
|
rs1565810301
|
|
NM_024685.4(BBS10):c.2030del (p.Gly677fs)
|
rs1064796315
|
|
NM_024685.4(BBS10):c.2044dup (p.Met682fs)
|
rs2136089682
|
|
NM_024685.4(BBS10):c.2052del (p.Lys684fs)
|
rs1951753726
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs)
|
rs1951753208
|
|
NM_024685.4(BBS10):c.235del (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.253del (p.Thr85fs)
|
|
|
NM_024685.4(BBS10):c.257_261del (p.Phe86fs)
|
rs1060500996
|
|
NM_024685.4(BBS10):c.258del (p.Phe86fs)
|
rs1951773957
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.27_37del (p.Ser10fs)
|
rs1278460471
|
|
NM_024685.4(BBS10):c.306_309del (p.Asp102fs)
|
rs745497072
|
|
NM_024685.4(BBS10):c.308_312del (p.Arg103fs)
|
|
|
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)
|
rs2136091244
|
|
NM_024685.4(BBS10):c.313_314del (p.Lys105fs)
|
rs2136091240
|
|
NM_024685.4(BBS10):c.35dup (p.Ala13fs)
|
rs2136091633
|
|
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter)
|
rs1951771573
|
|
NM_024685.4(BBS10):c.365dup (p.Asn122fs)
|
rs774095109
|
|
NM_024685.4(BBS10):c.391C>T (p.Gln131Ter)
|
rs1565810183
|
|
NM_024685.4(BBS10):c.391del (p.Gln131fs)
|
|
|
NM_024685.4(BBS10):c.39_46del (p.Ala14fs)
|
rs1555202806
|
|
NM_024685.4(BBS10):c.409C>T (p.Gln137Ter)
|
rs2136091166
|
|
NM_024685.4(BBS10):c.415C>T (p.Gln139Ter)
|
|
|
NM_024685.4(BBS10):c.439C>T (p.Gln147Ter)
|
rs199998327
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
NM_024685.4(BBS10):c.448_449insAGGT (p.Ser150fs)
|
|
|
NM_024685.4(BBS10):c.455_456del (p.His152fs)
|
rs2136091120
|
|
NM_024685.4(BBS10):c.466_467del (p.Ile156fs)
|
|
|
NM_024685.4(BBS10):c.467del (p.Ile156fs)
|
rs2136091103
|
|
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
|
rs553291328
|
|
NM_024685.4(BBS10):c.482_497del (p.Lys161fs)
|
|
|
NM_024685.4(BBS10):c.483dup (p.Glu162fs)
|
|
|
NM_024685.4(BBS10):c.490dup (p.Thr164fs)
|
rs2136091086
|
|
NM_024685.4(BBS10):c.496dup (p.Cys166fs)
|
|
|
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)
|
rs1555202700
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024685.4(BBS10):c.559_561del (p.His187del)
|
rs781421232
|
|
NM_024685.4(BBS10):c.568_571del (p.Ile190fs)
|
rs1057516266
|
|
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)
|
rs1057517184
|
|
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser)
|
rs1951767864
|
|
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del)
|
rs1318745309
|
|
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)
|
rs756632517
|
|
NM_024685.4(BBS10):c.598A>T (p.Lys200Ter)
|
rs1951767589
|
|
NM_024685.4(BBS10):c.643_655del (p.Val214_Asp215insTer)
|
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)
|
|
|
NM_024685.4(BBS10):c.708_711dup (p.Gly238fs)
|
|
|
NM_024685.4(BBS10):c.724del (p.Gln242fs)
|
rs1565809995
|
|
NM_024685.4(BBS10):c.725_737del (p.Gln242fs)
|
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter)
|
rs775090151
|
|
NM_024685.4(BBS10):c.804_805del (p.Ser269fs)
|
rs1472533012
|
|
NM_024685.4(BBS10):c.805dup (p.Ser269fs)
|
|
|
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)
|
rs1476664656
|
|
NM_024685.4(BBS10):c.883A>T (p.Lys295Ter)
|
rs2136090788
|
|
NM_024685.4(BBS10):c.894_897dup (p.His300fs)
|
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)
|
rs137852837
|
|
NM_024685.4(BBS10):c.953del (p.Asp317_Leu318insTer)
|
rs2136090739
|
|
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)
|
rs758522600
|
|
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter)
|
rs1555202662
|
|
NM_024685.4(BBS10):c.999T>A (p.Cys333Ter)
|
rs1565809867
|
|
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
|
|
|
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)
|
rs2136091654
|
|