NM_024685.4(BBS10):c.*1051C>T
|
rs3087711
|
0.77456
|
NM_024685.4(BBS10):c.*769G>C
|
rs73383520
|
0.10902
|
NM_024685.4(BBS10):c.*498A>G
|
rs79517322
|
0.06435
|
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)
|
rs35676114
|
0.05430
|
NM_024685.4(BBS10):c.*805T>C
|
rs73390067
|
0.04252
|
NM_024685.4(BBS10):c.-52C>T
|
rs79580268
|
0.04214
|
NM_024685.4(BBS10):c.*1248A>G
|
rs115516881
|
0.01249
|
NM_024685.4(BBS10):c.*87A>C
|
rs138936387
|
0.00985
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser)
|
rs34737974
|
0.00618
|
NM_024685.4(BBS10):c.966T>C (p.Tyr322=)
|
rs139053702
|
0.00560
|
NM_024685.3(BBS10):c.-71C>T
|
rs569445445
|
0.00293
|
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val)
|
rs139719799
|
0.00167
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
NM_024685.4(BBS10):c.1245T>C (p.His415=)
|
rs147241753
|
0.00130
|
NM_024685.4(BBS10):c.*955T>C
|
rs141408782
|
0.00093
|
NM_024685.4(BBS10):c.1545T>C (p.Asp515=)
|
rs77565309
|
0.00093
|
NM_024685.4(BBS10):c.*632T>C
|
rs78402495
|
0.00073
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)
|
rs138434761
|
0.00058
|
NM_024685.4(BBS10):c.*106C>T
|
rs886049847
|
0.00045
|
NM_024685.4(BBS10):c.*947G>T
|
rs533206499
|
0.00042
|
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)
|
rs150587582
|
0.00041
|
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu)
|
rs149596527
|
0.00040
|
NM_024685.4(BBS10):c.957T>C (p.Val319=)
|
rs139645096
|
0.00039
|
NM_024685.4(BBS10):c.752C>T (p.Ala251Val)
|
rs149760791
|
0.00034
|
NM_024685.4(BBS10):c.*529C>T
|
rs571517922
|
0.00032
|
NM_024685.4(BBS10):c.474G>T (p.Ser158=)
|
rs375436323
|
0.00032
|
NM_024685.4(BBS10):c.*1197A>G
|
rs1021806409
|
0.00024
|
NM_024685.4(BBS10):c.*773T>C
|
rs549588883
|
0.00024
|
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser)
|
rs142140276
|
0.00018
|
NM_024685.4(BBS10):c.1923C>T (p.Pro641=)
|
rs201449351
|
0.00015
|
NM_024685.4(BBS10):c.1050A>G (p.Pro350=)
|
rs370953693
|
0.00014
|
NM_024685.4(BBS10):c.372T>A (p.Ser124=)
|
rs143366878
|
0.00014
|
NM_024685.4(BBS10):c.102G>T (p.Arg34=)
|
rs376601112
|
0.00013
|
NM_024685.4(BBS10):c.*1250A>G
|
rs182439491
|
0.00012
|
NM_024685.4(BBS10):c.27G>T (p.Gly9=)
|
rs370213920
|
0.00012
|
NM_024685.4(BBS10):c.*734G>T
|
rs750187536
|
0.00011
|
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys)
|
rs142297424
|
0.00011
|
NM_024685.4(BBS10):c.-48C>G
|
rs752162179
|
0.00010
|
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile)
|
rs199878555
|
0.00009
|
NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser)
|
rs767717128
|
0.00009
|
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln)
|
rs201335653
|
0.00008
|
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)
|
rs138961848
|
0.00008
|
NM_024685.4(BBS10):c.1629C>T (p.Asn543=)
|
rs145124702
|
0.00008
|
NM_024685.4(BBS10):c.375G>A (p.Arg125=)
|
rs376030299
|
0.00007
|
NM_024685.4(BBS10):c.*1325T>C
|
rs571032291
|
0.00006
|
NM_024685.4(BBS10):c.1188T>C (p.Ser396=)
|
rs143903199
|
0.00006
|
NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu)
|
rs56867176
|
0.00006
|
NM_024685.4(BBS10):c.429T>C (p.Gly143=)
|
rs146587757
|
0.00006
|
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)
|
rs140585012
|
0.00006
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val)
|
rs753629989
|
0.00005
|
NM_024685.4(BBS10):c.1617A>G (p.Pro539=)
|
rs150467742
|
0.00005
|
NM_024685.4(BBS10):c.42G>A (p.Ala14=)
|
rs373458861
|
0.00005
|
NM_024685.4(BBS10):c.*1164A>G
|
rs922929416
|
0.00004
|
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val)
|
rs200718870
|
0.00004
|
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg)
|
rs1021050605
|
0.00004
|
NM_024685.4(BBS10):c.1548A>T (p.Thr516=)
|
rs771662934
|
0.00004
|
NM_024685.4(BBS10):c.163C>T (p.Leu55=)
|
rs887761680
|
0.00004
|
NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp)
|
rs144402299
|
0.00004
|
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)
|
rs141647931
|
0.00004
|
NM_024685.4(BBS10):c.1882A>G (p.Met628Val)
|
rs760505134
|
0.00004
|
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala)
|
rs766733372
|
0.00004
|
NM_024685.4(BBS10):c.197+13C>G
|
rs758349250
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_024685.4(BBS10):c.936T>C (p.Ser312=)
|
rs142630760
|
0.00004
|
NM_024685.4(BBS10):c.*1140A>G
|
rs886049842
|
0.00003
|
NM_024685.4(BBS10):c.*1204T>A
|
rs886049839
|
0.00003
|
NM_024685.4(BBS10):c.*177T>G
|
rs189856910
|
0.00003
|
NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu)
|
rs767572725
|
0.00003
|
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp)
|
rs774809155
|
0.00003
|
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)
|
rs375746803
|
0.00003
|
NM_024685.4(BBS10):c.1287T>C (p.Asp429=)
|
rs771468663
|
0.00003
|
NM_024685.4(BBS10):c.1325C>T (p.Thr442Ile)
|
rs780966013
|
0.00003
|
NM_024685.4(BBS10):c.1743G>A (p.Pro581=)
|
rs150530553
|
0.00003
|
NM_024685.4(BBS10):c.197+11C>A
|
rs766419844
|
0.00003
|
NM_024685.4(BBS10):c.1970C>T (p.Thr657Ile)
|
rs773540960
|
0.00003
|
NM_024685.4(BBS10):c.198-19T>A
|
rs368334772
|
0.00003
|
NM_024685.4(BBS10):c.198-3C>T
|
rs779659204
|
0.00003
|
NM_024685.4(BBS10):c.1A>G (p.Met1Val)
|
rs752145803
|
0.00003
|
NM_024685.4(BBS10):c.462G>A (p.Leu154=)
|
rs764687344
|
0.00003
|
NM_024685.4(BBS10):c.756T>C (p.Asp252=)
|
rs762540567
|
0.00003
|
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr)
|
rs1160564103
|
0.00003
|
NM_024685.4(BBS10):c.1034T>C (p.Ile345Thr)
|
rs761897354
|
0.00002
|
NM_024685.4(BBS10):c.1041T>C (p.Gly347=)
|
rs747390360
|
0.00002
|
NM_024685.4(BBS10):c.1164C>T (p.Ser388=)
|
rs1484593364
|
0.00002
|
NM_024685.4(BBS10):c.1215T>G (p.Gly405=)
|
rs751592378
|
0.00002
|
NM_024685.4(BBS10):c.1230T>G (p.His410Gln)
|
rs1447555059
|
0.00002
|
NM_024685.4(BBS10):c.1232A>G (p.Glu411Gly)
|
rs760904517
|
0.00002
|
NM_024685.4(BBS10):c.1244del (p.His415fs)
|
rs760642305
|
0.00002
|
NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser)
|
rs770239827
|
0.00002
|
NM_024685.4(BBS10):c.1437A>G (p.Ala479=)
|
rs201701959
|
0.00002
|
NM_024685.4(BBS10):c.1438T>C (p.Leu480=)
|
rs746529935
|
0.00002
|
NM_024685.4(BBS10):c.1527C>G (p.Pro509=)
|
rs762271852
|
0.00002
|
NM_024685.4(BBS10):c.1572A>G (p.Thr524=)
|
rs1271927802
|
0.00002
|
NM_024685.4(BBS10):c.1607A>G (p.Tyr536Cys)
|
rs765785183
|
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.1700T>C (p.Ile567Thr)
|
rs373626588
|
0.00002
|
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu)
|
rs762432475
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024685.4(BBS10):c.1936A>G (p.Lys646Glu)
|
rs757995171
|
0.00002
|
NM_024685.4(BBS10):c.198-10T>C
|
rs376497190
|
0.00002
|
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro)
|
rs759387000
|
0.00002
|
NM_024685.4(BBS10):c.402A>G (p.Leu134=)
|
rs762331843
|
0.00002
|
NM_024685.4(BBS10):c.559C>A (p.His187Asn)
|
rs753964273
|
0.00002
|
NM_024685.4(BBS10):c.637T>C (p.Leu213=)
|
rs367795705
|
0.00002
|
NM_024685.4(BBS10):c.63G>A (p.Leu21=)
|
rs779366264
|
0.00002
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_024685.4(BBS10):c.788C>T (p.Thr263Ile)
|
rs746826888
|
0.00002
|
NM_024685.4(BBS10):c.861A>G (p.Gln287=)
|
rs753223078
|
0.00002
|
NM_024685.3(BBS10):c.-66C>T
|
rs886049854
|
0.00001
|
NM_024685.4(BBS10):c.*1041G>T
|
rs1184051032
|
0.00001
|
NM_024685.4(BBS10):c.*1113G>C
|
rs1432385652
|
0.00001
|
NM_024685.4(BBS10):c.*119G>A
|
rs886049846
|
0.00001
|
NM_024685.4(BBS10):c.*264A>T
|
rs556444502
|
0.00001
|
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter)
|
rs1555202657
|
0.00001
|
NM_024685.4(BBS10):c.1088C>T (p.Pro363Leu)
|
rs938066133
|
0.00001
|
NM_024685.4(BBS10):c.1123A>T (p.Ile375Phe)
|
rs1289641509
|
0.00001
|
NM_024685.4(BBS10):c.1134C>T (p.Ser378=)
|
rs764371181
|
0.00001
|
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe)
|
rs775492103
|
0.00001
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573
|
0.00001
|
NM_024685.4(BBS10):c.1197T>C (p.Leu399=)
|
rs974452621
|
0.00001
|
NM_024685.4(BBS10):c.1198T>C (p.Cys400Arg)
|
rs1951762407
|
0.00001
|
NM_024685.4(BBS10):c.1211A>G (p.His404Arg)
|
rs964776134
|
0.00001
|
NM_024685.4(BBS10):c.1218C>G (p.Leu406=)
|
rs758194221
|
0.00001
|
NM_024685.4(BBS10):c.1234G>C (p.Asp412His)
|
rs1413288461
|
0.00001
|
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)
|
rs786204575
|
0.00001
|
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val)
|
rs1460652135
|
0.00001
|
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly)
|
rs933207351
|
0.00001
|
NM_024685.4(BBS10):c.1401G>A (p.Arg467=)
|
rs1951760279
|
0.00001
|
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter)
|
rs1356713858
|
0.00001
|
NM_024685.4(BBS10):c.1416A>G (p.Thr472=)
|
rs1345667368
|
0.00001
|
NM_024685.4(BBS10):c.144C>T (p.Ser48=)
|
rs1354665984
|
0.00001
|
NM_024685.4(BBS10):c.1477T>C (p.Leu493=)
|
rs543722869
|
0.00001
|
NM_024685.4(BBS10):c.1506A>G (p.Thr502=)
|
rs201022680
|
0.00001
|
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn)
|
rs750994616
|
0.00001
|
NM_024685.4(BBS10):c.1588A>G (p.Arg530Gly)
|
rs1951758303
|
0.00001
|
NM_024685.4(BBS10):c.1593C>T (p.Asn531=)
|
rs780123311
|
0.00001
|
NM_024685.4(BBS10):c.1628A>G (p.Asn543Ser)
|
rs1444034224
|
0.00001
|
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys)
|
rs758489303
|
0.00001
|
NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser)
|
rs1453771610
|
0.00001
|
NM_024685.4(BBS10):c.1776A>G (p.Ser592=)
|
rs549089224
|
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.1866T>C (p.His622=)
|
rs1167846126
|
0.00001
|
NM_024685.4(BBS10):c.1893G>C (p.Met631Ile)
|
rs144428139
|
0.00001
|
NM_024685.4(BBS10):c.190A>G (p.Ile64Val)
|
rs755814743
|
0.00001
|
NM_024685.4(BBS10):c.1918A>G (p.Ile640Val)
|
rs748647079
|
0.00001
|
NM_024685.4(BBS10):c.1959C>T (p.Ser653=)
|
rs764088306
|
0.00001
|
NM_024685.4(BBS10):c.196A>G (p.Arg66Gly)
|
rs780874811
|
0.00001
|
NM_024685.4(BBS10):c.197+5C>T
|
rs754503828
|
0.00001
|
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=)
|
rs376613074
|
0.00001
|
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)
|
rs771355732
|
0.00001
|
NM_024685.4(BBS10):c.1978A>C (p.Arg660=)
|
rs145838463
|
0.00001
|
NM_024685.4(BBS10):c.198-1G>C
|
rs1555202740
|
0.00001
|
NM_024685.4(BBS10):c.198-4A>G
|
rs1292242567
|
0.00001
|
NM_024685.4(BBS10):c.1992A>G (p.Ala664=)
|
rs758730453
|
0.00001
|
NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys)
|
rs778614911
|
0.00001
|
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp)
|
rs756069503
|
0.00001
|
NM_024685.4(BBS10):c.206T>A (p.Val69Glu)
|
rs1176176320
|
0.00001
|
NM_024685.4(BBS10):c.2070A>G (p.Ser690=)
|
rs750972045
|
0.00001
|
NM_024685.4(BBS10):c.2132C>T (p.Pro711Leu)
|
rs202134724
|
0.00001
|
NM_024685.4(BBS10):c.2142T>G (p.Val714=)
|
rs1463359253
|
0.00001
|
NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter)
|
rs959224608
|
0.00001
|
NM_024685.4(BBS10):c.2166A>G (p.Glu722=)
|
rs747553162
|
0.00001
|
NM_024685.4(BBS10):c.2169A>G (p.Leu723=)
|
rs1395342080
|
0.00001
|
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe)
|
rs767638924
|
0.00001
|
NM_024685.4(BBS10):c.235A>G (p.Thr79Ala)
|
rs899733320
|
0.00001
|
NM_024685.4(BBS10):c.237A>G (p.Thr79=)
|
rs774437650
|
0.00001
|
NM_024685.4(BBS10):c.270T>G (p.Leu90=)
|
rs200390697
|
0.00001
|
NM_024685.4(BBS10):c.292C>A (p.His98Asn)
|
rs748465517
|
0.00001
|
NM_024685.4(BBS10):c.327G>A (p.Met109Ile)
|
rs1051916652
|
0.00001
|
NM_024685.4(BBS10):c.337A>G (p.Ile113Val)
|
rs969686018
|
0.00001
|
NM_024685.4(BBS10):c.340del (p.Gln114fs)
|
rs1191479533
|
0.00001
|
NM_024685.4(BBS10):c.343A>G (p.Thr115Ala)
|
rs147432159
|
0.00001
|
NM_024685.4(BBS10):c.344C>T (p.Thr115Ile)
|
rs1254886838
|
0.00001
|
NM_024685.4(BBS10):c.380A>G (p.Lys127Arg)
|
rs936655028
|
0.00001
|
NM_024685.4(BBS10):c.389C>T (p.Ser130Phe)
|
rs766572403
|
0.00001
|
NM_024685.4(BBS10):c.393G>A (p.Gln131=)
|
rs369066076
|
0.00001
|
NM_024685.4(BBS10):c.397C>G (p.Leu133Val)
|
rs750446869
|
0.00001
|
NM_024685.4(BBS10):c.411G>T (p.Gln137His)
|
rs775342373
|
0.00001
|
NM_024685.4(BBS10):c.434T>C (p.Met145Thr)
|
rs144312522
|
0.00001
|
NM_024685.4(BBS10):c.450T>C (p.Ser150=)
|
rs573346325
|
0.00001
|
NM_024685.4(BBS10):c.483A>G (p.Lys161=)
|
rs748732850
|
0.00001
|
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)
|
rs1555202697
|
0.00001
|
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly)
|
rs775747309
|
0.00001
|
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala)
|
rs753138845
|
0.00001
|
NM_024685.4(BBS10):c.630A>T (p.Val210=)
|
rs759791957
|
0.00001
|
NM_024685.4(BBS10):c.653T>A (p.Phe218Tyr)
|
rs1316090880
|
0.00001
|
NM_024685.4(BBS10):c.661T>C (p.Leu221=)
|
rs768544411
|
0.00001
|
NM_024685.4(BBS10):c.681C>T (p.Gly227=)
|
rs886049851
|
0.00001
|
NM_024685.4(BBS10):c.691T>C (p.Ser231Pro)
|
rs777951931
|
0.00001
|
NM_024685.4(BBS10):c.6A>G (p.Leu2=)
|
rs1333383849
|
0.00001
|
NM_024685.4(BBS10):c.753A>G (p.Ala251=)
|
rs766065990
|
0.00001
|
NM_024685.4(BBS10):c.763A>G (p.Met255Val)
|
rs772739860
|
0.00001
|
NM_024685.4(BBS10):c.783A>G (p.Thr261=)
|
rs768475584
|
0.00001
|
NM_024685.4(BBS10):c.7A>C (p.Ser3Arg)
|
rs1396450993
|
0.00001
|
NM_024685.4(BBS10):c.840A>G (p.Glu280=)
|
rs751973161
|
0.00001
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
NM_024685.4(BBS10):c.85G>T (p.Val29Leu)
|
rs752267054
|
0.00001
|
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly)
|
rs759385121
|
0.00001
|
NM_024685.4(BBS10):c.942A>G (p.Lys314=)
|
rs748249273
|
0.00001
|
NM_024685.4(BBS10):c.955G>C (p.Val319Leu)
|
rs769233464
|
0.00001
|
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu)
|
rs1000990130
|
0.00001
|
NM_024685.4(BBS10):c.996G>A (p.Glu332=)
|
rs756848031
|
0.00001
|
NC_000012.11:g.(?_76739593)_(76742138_?)dup
|
|
|
NC_000012.12:g.(?_76345803)_(76348368_?)del
|
|
|
NM_024685.4(BBS10):c.*1145A>C
|
rs886049841
|
|
NM_024685.4(BBS10):c.*1189dup
|
rs886049840
|
|
NM_024685.4(BBS10):c.*1241_*1244del
|
rs886049838
|
|
NM_024685.4(BBS10):c.*1275A>C
|
rs886049837
|
|
NM_024685.4(BBS10):c.*48G>C
|
rs1951752530
|
|
NM_024685.4(BBS10):c.*641AT[2]
|
rs886049845
|
|
NM_024685.4(BBS10):c.*891T>C
|
rs886049844
|
|
NM_024685.4(BBS10):c.*930A>G
|
rs886049843
|
|
NM_024685.4(BBS10):c.-4A>G
|
rs886049853
|
|
NM_024685.4(BBS10):c.1003TCA[1] (p.Ser336del)
|
rs1555202655
|
|
NM_024685.4(BBS10):c.1005A>G (p.Ser335=)
|
|
|
NM_024685.4(BBS10):c.1007C>G (p.Ser336Ter)
|
rs1555202656
|
|
NM_024685.4(BBS10):c.1009_1010inv (p.Glu337Ser)
|
|
|
NM_024685.4(BBS10):c.1010A>G (p.Glu337Gly)
|
rs752630373
|
|
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del)
|
rs750611000
|
|
NM_024685.4(BBS10):c.1012_1013del (p.Glu338fs)
|
rs1057516998
|
|
NM_024685.4(BBS10):c.1014A>G (p.Glu338=)
|
rs2136090679
|
|
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp)
|
rs1363498219
|
|
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro)
|
rs137852836
|
|
NM_024685.4(BBS10):c.1024del (p.Ile342fs)
|
rs765561672
|
|
NM_024685.4(BBS10):c.1024dup (p.Ile342fs)
|
rs869025210
|
|
NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr)
|
rs1951764046
|
|
NM_024685.4(BBS10):c.1026C>T (p.Ile342=)
|
rs2136090671
|
|
NM_024685.4(BBS10):c.1027C>T (p.Arg343Trp)
|
|
|
NM_024685.4(BBS10):c.1032G>T (p.Arg344Ser)
|
|
|
NM_024685.4(BBS10):c.1035C>T (p.Ile345=)
|
|
|
NM_024685.4(BBS10):c.1036A>G (p.Ile346Val)
|
|
|
NM_024685.4(BBS10):c.1038T>C (p.Ile346=)
|
|
|
NM_024685.4(BBS10):c.1041T>G (p.Gly347=)
|
|
|
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)
|
rs587777837
|
|
NM_024685.4(BBS10):c.1048C>A (p.Pro350Thr)
|
|
|
NM_024685.4(BBS10):c.1054G>A (p.Val352Ile)
|
rs779201114
|
|
NM_024685.4(BBS10):c.1056del (p.Pro353fs)
|
rs1057516623
|
|
NM_024685.4(BBS10):c.1059A>G (p.Pro353=)
|
rs2136090643
|
|
NM_024685.4(BBS10):c.1059A>T (p.Pro353=)
|
rs2136090643
|
|
NM_024685.4(BBS10):c.105A>G (p.Gln35=)
|
|
|
NM_024685.4(BBS10):c.1064del (p.Gln355fs)
|
rs1555202654
|
|
NM_024685.4(BBS10):c.1068del (p.Ser358fs)
|
|
|
NM_024685.4(BBS10):c.106G>T (p.Val36Phe)
|
rs896544129
|
|
NM_024685.4(BBS10):c.1072T>C (p.Ser358Pro)
|
|
|
NM_024685.4(BBS10):c.1074G>A (p.Ser358=)
|
rs551803123
|
|
NM_024685.4(BBS10):c.1074G>T (p.Ser358=)
|
rs551803123
|
|
NM_024685.4(BBS10):c.1076del (p.Gln359fs)
|
|
|
NM_024685.4(BBS10):c.1077G>A (p.Gln359=)
|
rs2136090625
|
|
NM_024685.4(BBS10):c.1080_1081del (p.Cys360_Glu361delinsTer)
|
rs2136090624
|
|
NM_024685.4(BBS10):c.1081G>A (p.Glu361Lys)
|
rs1565809819
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1092C>T (p.Asn364=)
|
rs1951763479
|
|
NM_024685.4(BBS10):c.1095T>C (p.Thr365=)
|
|
|
NM_024685.4(BBS10):c.1101G>A (p.Leu367=)
|
|
|
NM_024685.4(BBS10):c.1112G>C (p.Cys371Ser)
|
rs1951763406
|
|
NM_024685.4(BBS10):c.1122dup (p.Ile375fs)
|
rs753604828
|
|
NM_024685.4(BBS10):c.1125C>T (p.Ile375=)
|
rs762785764
|
|
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val)
|
rs11109474
|
|
NM_024685.4(BBS10):c.1133C>T (p.Ser378Phe)
|
rs1951763168
|
|
NM_024685.4(BBS10):c.1138dup (p.Arg380fs)
|
rs1555202645
|
|
NM_024685.4(BBS10):c.1143T>C (p.Tyr381=)
|
rs1340165752
|
|
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter)
|
rs1340165752
|
|
NM_024685.4(BBS10):c.1143_1147dup (p.His383fs)
|
rs1555202642
|
|
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu)
|
rs775492103
|
|
NM_024685.4(BBS10):c.1145T>G (p.Val382Gly)
|
rs2136090562
|
|
NM_024685.4(BBS10):c.1149T>C (p.His383=)
|
|
|
NM_024685.4(BBS10):c.1158G>A (p.Leu386=)
|
rs138702315
|
|
NM_024685.4(BBS10):c.1158G>C (p.Leu386Phe)
|
|
|
NM_024685.4(BBS10):c.1160T>C (p.Ile387Thr)
|
|
|
NM_024685.4(BBS10):c.1167A>G (p.Thr389=)
|
|
|
NM_024685.4(BBS10):c.1170T>C (p.Cys390=)
|
|
|
NM_024685.4(BBS10):c.1173A>G (p.Ala391=)
|
|
|
NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln)
|
rs1951762690
|
|
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
|
rs1368733646
|
|
NM_024685.4(BBS10):c.1185C>G (p.His395Gln)
|
rs863224793
|
|
NM_024685.4(BBS10):c.1185C>T (p.His395=)
|
rs863224793
|
|
NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs)
|
rs1555202636
|
|
NM_024685.4(BBS10):c.1188T>G (p.Ser396=)
|
rs143903199
|
|
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
|
|
|
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter)
|
rs202228478
|
|
NM_024685.4(BBS10):c.1190_1191del (p.Ile397fs)
|
rs1057517206
|
|
NM_024685.4(BBS10):c.1192G>A (p.Val398Ile)
|
|
|
NM_024685.4(BBS10):c.1195C>A (p.Leu399Ile)
|
|
|
NM_024685.4(BBS10):c.1197T>A (p.Leu399=)
|
rs974452621
|
|
NM_024685.4(BBS10):c.1201G>A (p.Gly401Arg)
|
|
|
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)
|
rs199474722
|
|
NM_024685.4(BBS10):c.1203A>T (p.Gly401=)
|
rs1951762391
|
|
NM_024685.4(BBS10):c.1218C>T (p.Leu406=)
|
rs758194221
|
|
NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr)
|
|
|
NM_024685.4(BBS10):c.1224A>G (p.Glu408=)
|
|
|
NM_024685.4(BBS10):c.1225del (p.Gln409fs)
|
|
|
NM_024685.4(BBS10):c.1227del (p.Gln409fs)
|
|
|
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr)
|
rs1951762170
|
|
NM_024685.4(BBS10):c.1235A>T (p.Asp412Val)
|
|
|
NM_024685.4(BBS10):c.1236T>C (p.Asp412=)
|
rs2136090480
|
|
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)
|
rs1057517156
|
|
NM_024685.4(BBS10):c.1248A>G (p.Gly416=)
|
rs2136090464
|
|
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
|
|
|
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val)
|
rs537219462
|
|
NM_024685.4(BBS10):c.1254T>C (p.Leu418=)
|
rs920762954
|
|
NM_024685.4(BBS10):c.1257A>G (p.Lys419=)
|
|
|
NM_024685.4(BBS10):c.1258A>C (p.Met420Leu)
|
rs1951761840
|
|
NM_024685.4(BBS10):c.1264del (p.Arg422fs)
|
|
|
NM_024685.4(BBS10):c.1269A>G (p.Gln423=)
|
|
|
NM_024685.4(BBS10):c.126T>G (p.Thr42=)
|
rs1467112927
|
|
NM_024685.4(BBS10):c.1272del (p.Leu424fs)
|
|
|
NM_024685.4(BBS10):c.1277A>G (p.Lys426Arg)
|
|
|
NM_024685.4(BBS10):c.1278A>G (p.Lys426=)
|
|
|
NM_024685.4(BBS10):c.1280A>G (p.Asp427Gly)
|
|
|
NM_024685.4(BBS10):c.1284T>A (p.Leu428=)
|
rs1382756940
|
|
NM_024685.4(BBS10):c.1290_1293del (p.Asn431fs)
|
rs2136090423
|
|
NM_024685.4(BBS10):c.1293T>C (p.Asn431=)
|
|
|
NM_024685.4(BBS10):c.1296C>T (p.Tyr432=)
|
|
|
NM_024685.4(BBS10):c.1297A>T (p.Met433Leu)
|
rs987403283
|
|
NM_024685.4(BBS10):c.129C>A (p.Gly43=)
|
rs2136091554
|
|
NM_024685.4(BBS10):c.12T>C (p.Ser4=)
|
|
|
NM_024685.4(BBS10):c.1308C>G (p.Thr436=)
|
|
|
NM_024685.4(BBS10):c.130G>T (p.Glu44Ter)
|
rs1310735399
|
|
NM_024685.4(BBS10):c.1314C>T (p.Asp438=)
|
rs2136090402
|
|
NM_024685.4(BBS10):c.1315del (p.Gln439fs)
|
rs1592491950
|
|
NM_024685.4(BBS10):c.1317A>G (p.Gln439=)
|
|
|
NM_024685.4(BBS10):c.1320T>C (p.Asn440=)
|
rs2136090393
|
|
NM_024685.4(BBS10):c.1325C>G (p.Thr442Ser)
|
|
|
NM_024685.4(BBS10):c.1329A>G (p.Ser443=)
|
|
|
NM_024685.4(BBS10):c.1330del (p.Ser444fs)
|
rs2136090382
|
|
NM_024685.4(BBS10):c.1330dup (p.Ser444fs)
|
|
|
NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs)
|
rs1389599028
|
|
NM_024685.4(BBS10):c.1336T>C (p.Phe446Leu)
|
|
|
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs)
|
rs1389599028
|
|
NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del)
|
rs767108821
|
|
NM_024685.4(BBS10):c.1338T>C (p.Phe446=)
|
rs941842098
|
|
NM_024685.4(BBS10):c.1338del (p.Phe446fs)
|
rs1389599028
|
|
NM_024685.4(BBS10):c.1338dup (p.Ile447fs)
|
|
|
NM_024685.4(BBS10):c.1341_1344del (p.Tyr448fs)
|
|
|
NM_024685.4(BBS10):c.1349A>G (p.Asn450Ser)
|
|
|
NM_024685.4(BBS10):c.135G>C (p.Val45=)
|
|
|
NM_024685.4(BBS10):c.1365T>C (p.Tyr455=)
|
rs778731343
|
|
NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter)
|
rs778731343
|
|
NM_024685.4(BBS10):c.136C>T (p.Leu46Phe)
|
rs1951778317
|
|
NM_024685.4(BBS10):c.1374A>G (p.Pro458=)
|
rs778415408
|
|
NM_024685.4(BBS10):c.1383T>A (p.Gly461=)
|
|
|
NM_024685.4(BBS10):c.1383T>C (p.Gly461=)
|
rs903725118
|
|
NM_024685.4(BBS10):c.138T>C (p.Leu46=)
|
rs2136091543
|
|
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)
|
rs759682922
|
|
NM_024685.4(BBS10):c.1392A>G (p.Ser464=)
|
|
|
NM_024685.4(BBS10):c.1395A>C (p.Ile465=)
|
rs2136090313
|
|
NM_024685.4(BBS10):c.1399del (p.Arg467fs)
|
|
|
NM_024685.4(BBS10):c.13A>G (p.Met5Val)
|
|
|
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys)
|
rs1022090476
|
|
NM_024685.4(BBS10):c.1401G>C (p.Arg467Ser)
|
|
|
NM_024685.4(BBS10):c.1408del (p.Gln470fs)
|
rs1555202614
|
|
NM_024685.4(BBS10):c.1416A>C (p.Thr472=)
|
rs1345667368
|
|
NM_024685.4(BBS10):c.1418T>A (p.Val473Asp)
|
rs763473990
|
|
NM_024685.4(BBS10):c.1418T>C (p.Val473Ala)
|
rs763473990
|
|
NM_024685.4(BBS10):c.1440G>C (p.Leu480Phe)
|
|
|
NM_024685.4(BBS10):c.1442A>G (p.Glu481Gly)
|
|
|
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.1455A>T (p.Thr485=)
|
rs1951759523
|
|
NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe)
|
rs1429011304
|
|
NM_024685.4(BBS10):c.1465G>C (p.Val489Leu)
|
rs1478926935
|
|
NM_024685.4(BBS10):c.1472C>A (p.Ser491Tyr)
|
rs886049850
|
|
NM_024685.4(BBS10):c.147G>A (p.Arg49=)
|
rs1592493118
|
|
NM_024685.4(BBS10):c.147G>T (p.Arg49=)
|
|
|
NM_024685.4(BBS10):c.1483A>C (p.Ile495Leu)
|
|
|
NM_024685.4(BBS10):c.1490A>G (p.Asp497Gly)
|
|
|
NM_024685.4(BBS10):c.1491delinsGA (p.Asp497fs)
|
rs1555202607
|
|
NM_024685.4(BBS10):c.1494A>G (p.Val498=)
|
rs1048483339
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
NM_024685.4(BBS10):c.1505C>A (p.Thr502Lys)
|
|
|
NM_024685.4(BBS10):c.1509T>C (p.Tyr503=)
|
rs1951759072
|
|
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.1515G>A (p.Pro505=)
|
rs762917447
|
|
NM_024685.4(BBS10):c.1515G>C (p.Pro505=)
|
|
|
NM_024685.4(BBS10):c.1515G>T (p.Pro505=)
|
rs762917447
|
|
NM_024685.4(BBS10):c.1522A>G (p.Thr508Ala)
|
|
|
NM_024685.4(BBS10):c.1525C>T (p.Pro509Ser)
|
|
|
NM_024685.4(BBS10):c.1526_1527dup (p.Thr510fs)
|
|
|
NM_024685.4(BBS10):c.1527C>T (p.Pro509=)
|
rs762271852
|
|
NM_024685.4(BBS10):c.1527dup (p.Thr510fs)
|
|
|
NM_024685.4(BBS10):c.152dup (p.Gly52fs)
|
|
|
NM_024685.4(BBS10):c.1530A>G (p.Thr510=)
|
rs1951758841
|
|
NM_024685.4(BBS10):c.1531C>T (p.Leu511=)
|
rs2136090156
|
|
NM_024685.4(BBS10):c.1532dup (p.Thr512fs)
|
|
|
NM_024685.4(BBS10):c.1533del (p.Thr512fs)
|
rs773864735
|
|
NM_024685.4(BBS10):c.1535C>T (p.Thr512Ile)
|
|
|
NM_024685.4(BBS10):c.1538dup (p.Thr514fs)
|
rs1555202599
|
|
NM_024685.4(BBS10):c.1540A>G (p.Thr514Ala)
|
|
|
NM_024685.4(BBS10):c.1542A>C (p.Thr514=)
|
|
|
NM_024685.4(BBS10):c.1542del (p.Asp515fs)
|
rs1057517031
|
|
NM_024685.4(BBS10):c.1547del (p.Thr516fs)
|
rs869025211
|
|
NM_024685.4(BBS10):c.1548A>C (p.Thr516=)
|
|
|
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter)
|
rs1951758601
|
|
NM_024685.4(BBS10):c.1554_1557del (p.Thr519fs)
|
|
|
NM_024685.4(BBS10):c.1555_1564del (p.Thr519fs)
|
|
|
NM_024685.4(BBS10):c.1556_1557del (p.Thr519fs)
|
rs2136090126
|
|
NM_024685.4(BBS10):c.1557A>G (p.Thr519=)
|
rs2136090123
|
|
NM_024685.4(BBS10):c.155G>A (p.Gly52Asp)
|
|
|
NM_024685.4(BBS10):c.1566G>A (p.Thr522=)
|
rs1200334802
|
|
NM_024685.4(BBS10):c.1566G>T (p.Thr522=)
|
rs1200334802
|
|
NM_024685.4(BBS10):c.1567C>A (p.Leu523Met)
|
rs886049849
|
|
NM_024685.4(BBS10):c.156C>A (p.Gly52=)
|
rs760758205
|
|
NM_024685.4(BBS10):c.156C>T (p.Gly52=)
|
rs760758205
|
|
NM_024685.4(BBS10):c.1572A>C (p.Thr524=)
|
rs1271927802
|
|
NM_024685.4(BBS10):c.1572A>T (p.Thr524=)
|
|
|
NM_024685.4(BBS10):c.157_170dup (p.Leu58fs)
|
|
|
NM_024685.4(BBS10):c.1582T>C (p.Leu528=)
|
|
|
NM_024685.4(BBS10):c.1589G>A (p.Arg530Lys)
|
|
|
NM_024685.4(BBS10):c.158G>C (p.Arg53Pro)
|
|
|
NM_024685.4(BBS10):c.1592A>G (p.Asn531Ser)
|
rs2136090095
|
|
NM_024685.4(BBS10):c.1596G>C (p.Arg532Ser)
|
|
|
NM_024685.4(BBS10):c.1599A>G (p.Leu533=)
|
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1602T>G (p.Thr534=)
|
rs750402316
|
|
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)
|
rs1951757988
|
|
NM_024685.4(BBS10):c.1604A>T (p.Asp535Val)
|
rs1951758028
|
|
NM_024685.4(BBS10):c.1606T>C (p.Tyr536His)
|
rs2136090060
|
|
NM_024685.4(BBS10):c.1606T>G (p.Tyr536Asp)
|
|
|
NM_024685.4(BBS10):c.1606del (p.Tyr536fs)
|
|
|
NM_024685.4(BBS10):c.1618T>C (p.Leu540=)
|
|
|
NM_024685.4(BBS10):c.1619T>G (p.Leu540Ter)
|
|
|
NM_024685.4(BBS10):c.1620A>G (p.Leu540=)
|
rs1592491670
|
|
NM_024685.4(BBS10):c.1623C>G (p.Leu541=)
|
rs2136090043
|
|
NM_024685.4(BBS10):c.1623C>T (p.Leu541=)
|
|
|
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
|
|
|
NM_024685.4(BBS10):c.162C>T (p.Leu54=)
|
|
|
NM_024685.4(BBS10):c.1634C>G (p.Ser545Cys)
|
|
|
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp)
|
rs770880993
|
|
NM_024685.4(BBS10):c.1641T>A (p.Ala547=)
|
|
|
NM_024685.4(BBS10):c.1641T>G (p.Ala547=)
|
rs2136090029
|
|
NM_024685.4(BBS10):c.1654G>T (p.Gly552Ter)
|
rs2136090024
|
|
NM_024685.4(BBS10):c.1654_1655del (p.Gly552fs)
|
|
|
NM_024685.4(BBS10):c.1656A>C (p.Gly552=)
|
rs2136090019
|
|
NM_024685.4(BBS10):c.165G>A (p.Leu55=)
|
|
|
NM_024685.4(BBS10):c.1664T>C (p.Ile555Thr)
|
|
|
NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs)
|
rs1057516669
|
|
NM_024685.4(BBS10):c.1667A>G (p.Glu556Gly)
|
|
|
NM_024685.4(BBS10):c.166G>C (p.Glu56Gln)
|
|
|
NM_024685.4(BBS10):c.1673_1675del (p.Ser558del)
|
|
|
NM_024685.4(BBS10):c.1676del (p.Tyr559fs)
|
|
|
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.1677C>T (p.Tyr559=)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1683T>C (p.Asn561=)
|
|
|
NM_024685.4(BBS10):c.1684T>C (p.Leu562=)
|
rs111773727
|
|
NM_024685.4(BBS10):c.1684T>G (p.Leu562Val)
|
|
|
NM_024685.4(BBS10):c.1686A>G (p.Leu562=)
|
|
|
NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter)
|
rs1555202583
|
|
NM_024685.4(BBS10):c.168G>A (p.Glu56=)
|
|
|
NM_024685.4(BBS10):c.1695A>G (p.Thr565=)
|
rs1361225928
|
|
NM_024685.4(BBS10):c.1696A>C (p.Asn566His)
|
rs144402299
|
|
NM_024685.4(BBS10):c.1698T>C (p.Asn566=)
|
|
|
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
|
|
|
NM_024685.4(BBS10):c.1702del (p.Thr568fs)
|
|
|
NM_024685.4(BBS10):c.1704T>C (p.Thr568=)
|
|
|
NM_024685.4(BBS10):c.1716C>T (p.Ser572=)
|
|
|
NM_024685.4(BBS10):c.171G>A (p.Ala57=)
|
|
|
NM_024685.4(BBS10):c.171G>C (p.Ala57=)
|
|
|
NM_024685.4(BBS10):c.171_174dup (p.His59fs)
|
|
|
NM_024685.4(BBS10):c.1724C>T (p.Pro575Leu)
|
|
|
NM_024685.4(BBS10):c.1724del (p.Pro575fs)
|
rs1057516754
|
|
NM_024685.4(BBS10):c.1725A>C (p.Pro575=)
|
|
|
NM_024685.4(BBS10):c.1740A>G (p.Leu580=)
|
rs2136089948
|
|
NM_024685.4(BBS10):c.1747A>G (p.Met583Val)
|
rs2136089937
|
|
NM_024685.4(BBS10):c.174A>G (p.Leu58=)
|
rs2136091515
|
|
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
NM_024685.4(BBS10):c.1767C>G (p.Tyr589Ter)
|
|
|
NM_024685.4(BBS10):c.1773C>G (p.Ser591=)
|
|
|
NM_024685.4(BBS10):c.1780A>G (p.Met594Val)
|
rs1951756219
|
|
NM_024685.4(BBS10):c.178T>C (p.Leu60=)
|
|
|
NM_024685.4(BBS10):c.1790G>T (p.Gly597Val)
|
rs1264836197
|
|
NM_024685.4(BBS10):c.1795_1796del (p.Val599fs)
|
|
|
NM_024685.4(BBS10):c.1799T>C (p.Leu600Ser)
|
|
|
NM_024685.4(BBS10):c.179T>G (p.Leu60Ter)
|
rs2136091512
|
|
NM_024685.4(BBS10):c.1802C>T (p.Pro601Leu)
|
|
|
NM_024685.4(BBS10):c.1806A>G (p.Val602=)
|
rs1951756000
|
|
NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser)
|
rs756523417
|
|
NM_024685.4(BBS10):c.1807G>T (p.Gly603Cys)
|
|
|
NM_024685.4(BBS10):c.1809T>C (p.Gly603=)
|
rs2136089890
|
|
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
|
|
|
NM_024685.4(BBS10):c.1811G>C (p.Gly604Ala)
|
rs1951755940
|
|
NM_024685.4(BBS10):c.1812T>C (p.Gly604=)
|
|
|
NM_024685.4(BBS10):c.1812dup (p.Asn605Ter)
|
|
|
NM_024685.4(BBS10):c.1814_1815del (p.Asn605fs)
|
rs2136089877
|
|
NM_024685.4(BBS10):c.1824C>T (p.Ile608=)
|
rs753129922
|
|
NM_024685.4(BBS10):c.1825T>C (p.Leu609=)
|
rs2136089870
|
|
NM_024685.4(BBS10):c.1826T>C (p.Leu609Ser)
|
|
|
NM_024685.4(BBS10):c.1827G>A (p.Leu609=)
|
rs376793096
|
|
NM_024685.4(BBS10):c.1828T>C (p.Leu610=)
|
|
|
NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter)
|
rs1555202572
|
|
NM_024685.4(BBS10):c.1834del (p.Tyr612fs)
|
rs2136089858
|
|
NM_024685.4(BBS10):c.1850A>G (p.Tyr617Cys)
|
rs749876979
|
|
NM_024685.4(BBS10):c.1851T>C (p.Tyr617=)
|
|
|
NM_024685.4(BBS10):c.1854C>T (p.Ala618=)
|
rs2136089834
|
|
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg)
|
rs1951755649
|
|
NM_024685.4(BBS10):c.1856_1865del (p.Lys619fs)
|
rs869025209
|
|
NM_024685.4(BBS10):c.1860dup (p.Cys621fs)
|
|
|
NM_024685.4(BBS10):c.1865A>G (p.His622Arg)
|
rs1453149575
|
|
NM_024685.4(BBS10):c.1869A>G (p.Gln623=)
|
|
|
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)
|
rs768385647
|
|
NM_024685.4(BBS10):c.1871C>T (p.Ser624Leu)
|
rs768385647
|
|
NM_024685.4(BBS10):c.187C>A (p.Pro63Thr)
|
rs371540031
|
|
NM_024685.4(BBS10):c.187C>G (p.Pro63Ala)
|
|
|
NM_024685.4(BBS10):c.188C>T (p.Pro63Leu)
|
rs2136091508
|
|
NM_024685.4(BBS10):c.1891A>G (p.Met631Val)
|
|
|
NM_024685.4(BBS10):c.1892_1896del (p.Met631fs)
|
|
|
NM_024685.4(BBS10):c.1896A>G (p.Ile632Met)
|
|
|
NM_024685.4(BBS10):c.1899A>T (p.Ile633=)
|
|
|
NM_024685.4(BBS10):c.1901C>G (p.Ala634Gly)
|
rs12099880
|
|
NM_024685.4(BBS10):c.1907C>T (p.Ala636Val)
|
rs113224628
|
|
NM_024685.4(BBS10):c.1909C>A (p.Leu637Ile)
|
rs777954013
|
|
NM_024685.4(BBS10):c.1909C>G (p.Leu637Val)
|
rs777954013
|
|
NM_024685.4(BBS10):c.1912T>C (p.Leu638=)
|
|
|
NM_024685.4(BBS10):c.1915G>A (p.Gly639Ser)
|
|
|
NM_024685.4(BBS10):c.1917C>G (p.Gly639=)
|
|
|
NM_024685.4(BBS10):c.1925A>G (p.Lys642Arg)
|
|
|
NM_024685.4(BBS10):c.1929C>A (p.Val643=)
|
|
|
NM_024685.4(BBS10):c.1929C>T (p.Val643=)
|
rs779691612
|
|
NM_024685.4(BBS10):c.1930C>T (p.Leu644Phe)
|
|
|
NM_024685.4(BBS10):c.1941T>C (p.Ser647=)
|
rs749965019
|
|
NM_024685.4(BBS10):c.1941T>G (p.Ser647=)
|
rs749965019
|
|
NM_024685.4(BBS10):c.1944A>G (p.Lys648=)
|
|
|
NM_024685.4(BBS10):c.1947A>G (p.Thr649=)
|
rs2136089752
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.1950A>C (p.Gly650=)
|
rs1369234749
|
|
NM_024685.4(BBS10):c.1952del (p.Lys651fs)
|
rs1555202562
|
|
NM_024685.4(BBS10):c.1953G>A (p.Lys651=)
|
|
|
NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)
|
|
|
NM_024685.4(BBS10):c.1956C>T (p.Tyr652=)
|
rs1951754581
|
|
NM_024685.4(BBS10):c.1959del (p.Pro655fs)
|
rs1057516628
|
|
NM_024685.4(BBS10):c.1964C>T (p.Pro655Leu)
|
|
|
NM_024685.4(BBS10):c.197+18G>A
|
|
|
NM_024685.4(BBS10):c.197+1G>A
|
rs886042729
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.197+20T>A
|
|
|
NM_024685.4(BBS10):c.197+4C>T
|
rs886049852
|
|
NM_024685.4(BBS10):c.197+7G>T
|
rs1433969081
|
|
NM_024685.4(BBS10):c.1971A>G (p.Thr657=)
|
rs2136089728
|
|
NM_024685.4(BBS10):c.1971_1975del (p.Tyr658fs)
|
|
|
NM_024685.4(BBS10):c.1973A>G (p.Tyr658Cys)
|
rs886049848
|
|
NM_024685.4(BBS10):c.1973A>T (p.Tyr658Phe)
|
rs886049848
|
|
NM_024685.4(BBS10):c.1975A>G (p.Ile659Val)
|
|
|
NM_024685.4(BBS10):c.197G>A (p.Arg66Lys)
|
|
|
NM_024685.4(BBS10):c.198-12T>G
|
rs1951774646
|
|
NM_024685.4(BBS10):c.198-12dup
|
rs764036894
|
|
NM_024685.4(BBS10):c.198-17A>G
|
|
|
NM_024685.4(BBS10):c.198-17_198-14del
|
rs776677235
|
|
NM_024685.4(BBS10):c.198-18T>G
|
|
|
NM_024685.4(BBS10):c.198-19T>G
|
|
|
NM_024685.4(BBS10):c.198-6G>A
|
rs746527914
|
|
NM_024685.4(BBS10):c.198-7T>C
|
rs2136091344
|
|
NM_024685.4(BBS10):c.198-7del
|
|
|
NM_024685.4(BBS10):c.198-8T>C
|
|
|
NM_024685.4(BBS10):c.198-9T>G
|
rs2136091348
|
|
NM_024685.4(BBS10):c.1980A>T (p.Arg660Ser)
|
|
|
NM_024685.4(BBS10):c.1989T>C (p.His663=)
|
|
|
NM_024685.4(BBS10):c.198G>A (p.Arg66=)
|
|
|
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser)
|
rs1565810301
|
|
NM_024685.4(BBS10):c.199A>G (p.Met67Val)
|
|
|
NM_024685.4(BBS10):c.2002A>G (p.Asn668Asp)
|
|
|
NM_024685.4(BBS10):c.2004T>C (p.Asn668=)
|
|
|
NM_024685.4(BBS10):c.2010C>T (p.Pro670=)
|
|
|
NM_024685.4(BBS10):c.2024dup (p.Thr676fs)
|
|
|
NM_024685.4(BBS10):c.2030G>T (p.Gly677Val)
|
rs1555202553
|
|
NM_024685.4(BBS10):c.2030del (p.Gly677fs)
|
rs1064796315
|
|
NM_024685.4(BBS10):c.2031T>G (p.Gly677=)
|
|
|
NM_024685.4(BBS10):c.2039C>T (p.Ser680Leu)
|
|
|
NM_024685.4(BBS10):c.203T>C (p.Ile68Thr)
|
rs750428156
|
|
NM_024685.4(BBS10):c.2040A>G (p.Ser680=)
|
rs1201858558
|
|
NM_024685.4(BBS10):c.2044dup (p.Met682fs)
|
rs2136089682
|
|
NM_024685.4(BBS10):c.2049T>A (p.Gly683=)
|
|
|
NM_024685.4(BBS10):c.2052del (p.Lys684fs)
|
rs1951753726
|
|
NM_024685.4(BBS10):c.2055C>T (p.Tyr685=)
|
rs752574665
|
|
NM_024685.4(BBS10):c.2057A>G (p.Gln686Arg)
|
|
|
NM_024685.4(BBS10):c.2059C>T (p.Leu687=)
|
rs968389636
|
|
NM_024685.4(BBS10):c.2061A>G (p.Leu687=)
|
|
|
NM_024685.4(BBS10):c.2062C>T (p.Leu688=)
|
|
|
NM_024685.4(BBS10):c.2070A>T (p.Ser690=)
|
|
|
NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter)
|
rs1555202546
|
|
NM_024685.4(BBS10):c.2085G>A (p.Leu695=)
|
rs2136089656
|
|
NM_024685.4(BBS10):c.2091A>C (p.Lys697Asn)
|
rs1565809262
|
|
NM_024685.4(BBS10):c.2095T>C (p.Leu699=)
|
|
|
NM_024685.4(BBS10):c.2095T>G (p.Leu699Val)
|
|
|
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly)
|
rs529208223
|
|
NM_024685.4(BBS10):c.2103T>C (p.Ile701=)
|
rs2136089643
|
|
NM_024685.4(BBS10):c.2106C>T (p.Asp702=)
|
|
|
NM_024685.4(BBS10):c.2107A>G (p.Met703Val)
|
|
|
NM_024685.4(BBS10):c.210C>T (p.Asp70=)
|
rs757062257
|
|
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.2130C>T (p.His710=)
|
|
|
NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs)
|
rs1555202538
|
|
NM_024685.4(BBS10):c.2139A>G (p.Lys713=)
|
rs2136089616
|
|
NM_024685.4(BBS10):c.2144A>C (p.His715Pro)
|
|
|
NM_024685.4(BBS10):c.2146A>C (p.Asn716His)
|
rs1951753000
|
|
NM_024685.4(BBS10):c.214_215del (p.Val72fs)
|
rs1057516861
|
|
NM_024685.4(BBS10):c.214_215dup (p.Ser73fs)
|
rs1057516861
|
|
NM_024685.4(BBS10):c.2157A>G (p.Ser719=)
|
rs1951752945
|
|
NM_024685.4(BBS10):c.2167C>G (p.Leu723Val)
|
rs1003705267
|
|
NM_024685.4(BBS10):c.2167C>T (p.Leu723=)
|
rs1003705267
|
|
NM_024685.4(BBS10):c.221G>T (p.Ser74Ile)
|
|
|
NM_024685.4(BBS10):c.22G>T (p.Ala8Ser)
|
|
|
NM_024685.4(BBS10):c.22_35delinsTCAG (p.Ala8fs)
|
|
|
NM_024685.4(BBS10):c.235del (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.23C>G (p.Ala8Gly)
|
rs1216242140
|
|
NM_024685.4(BBS10):c.246T>G (p.Gly82=)
|
|
|
NM_024685.4(BBS10):c.251_257dup (p.Phe86fs)
|
rs1555202737
|
|
NM_024685.4(BBS10):c.252A>G (p.Lys84=)
|
|
|
NM_024685.4(BBS10):c.253del (p.Thr85fs)
|
|
|
NM_024685.4(BBS10):c.254_255insG (p.Phe86fs)
|
|
|
NM_024685.4(BBS10):c.257_261del (p.Phe86fs)
|
rs1060500996
|
|
NM_024685.4(BBS10):c.258del (p.Phe86fs)
|
rs1951773957
|
|
NM_024685.4(BBS10):c.264C>A (p.Ile88=)
|
|
|
NM_024685.4(BBS10):c.264C>T (p.Ile88=)
|
|
|
NM_024685.4(BBS10):c.268C>G (p.Leu90Val)
|
|
|
NM_024685.4(BBS10):c.270T>C (p.Leu90=)
|
rs200390697
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.273C>T (p.Cys91=)
|
|
|
NM_024685.4(BBS10):c.27G>C (p.Gly9=)
|
|
|
NM_024685.4(BBS10):c.27_37del (p.Ser10fs)
|
rs1278460471
|
|
NM_024685.4(BBS10):c.284G>C (p.Arg95Thr)
|
|
|
NM_024685.4(BBS10):c.288A>G (p.Gly96=)
|
rs2136091268
|
|
NM_024685.4(BBS10):c.299_305del (p.Ile100fs)
|
rs1057516701
|
|
NM_024685.4(BBS10):c.2T>C (p.Met1Thr)
|
rs1382481529
|
|
NM_024685.4(BBS10):c.2_5del (p.Met1fs)
|
|
|
NM_024685.4(BBS10):c.301A>G (p.Thr101Ala)
|
|
|
NM_024685.4(BBS10):c.306_309del (p.Asp102fs)
|
rs745497072
|
|
NM_024685.4(BBS10):c.308_312del (p.Arg103fs)
|
|
|
NM_024685.4(BBS10):c.309A>G (p.Arg103=)
|
rs745374133
|
|
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.315G>A (p.Lys105=)
|
|
|
NM_024685.4(BBS10):c.317A>C (p.Asp106Ala)
|
|
|
NM_024685.4(BBS10):c.320del (p.Pro107fs)
|
rs1555202731
|
|
NM_024685.4(BBS10):c.326T>C (p.Met109Thr)
|
rs2136091232
|
|
NM_024685.4(BBS10):c.329G>A (p.Cys110Tyr)
|
rs2136091229
|
|
NM_024685.4(BBS10):c.32T>G (p.Val11Gly)
|
rs137852838
|
|
NM_024685.4(BBS10):c.330_331del (p.Cys110_Glu111delinsTer)
|
|
|
NM_024685.4(BBS10):c.336C>T (p.Asn112=)
|
rs1951771752
|
|
NM_024685.4(BBS10):c.340C>G (p.Gln114Glu)
|
|
|
NM_024685.4(BBS10):c.350G>A (p.Gly117Glu)
|
rs1951771611
|
|
NM_024685.4(BBS10):c.350G>C (p.Gly117Ala)
|
rs1951771611
|
|
NM_024685.4(BBS10):c.357T>C (p.His119=)
|
rs201401485
|
|
NM_024685.4(BBS10):c.358T>C (p.Trp120Arg)
|
|
|
NM_024685.4(BBS10):c.35dup (p.Ala13fs)
|
rs2136091633
|
|
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter)
|
rs1951771573
|
|
NM_024685.4(BBS10):c.361A>T (p.Lys121Ter)
|
rs1057516240
|
|
NM_024685.4(BBS10):c.365dup (p.Asn122fs)
|
rs774095109
|
|
NM_024685.4(BBS10):c.368G>A (p.Cys123Tyr)
|
rs2136091207
|
|
NM_024685.4(BBS10):c.36G>A (p.Lys12=)
|
rs2136091631
|
|
NM_024685.4(BBS10):c.373C>T (p.Arg125Trp)
|
|
|
NM_024685.4(BBS10):c.378G>A (p.Trp126Ter)
|
rs1057516753
|
|
NM_024685.4(BBS10):c.381A>G (p.Lys127=)
|
|
|
NM_024685.4(BBS10):c.383T>C (p.Phe128Ser)
|
rs1592492746
|
|
NM_024685.4(BBS10):c.390C>T (p.Ser130=)
|
|
|
NM_024685.4(BBS10):c.391C>T (p.Gln131Ter)
|
rs1565810183
|
|
NM_024685.4(BBS10):c.391del (p.Gln131fs)
|
|
|
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe)
|
rs750446869
|
|
NM_024685.4(BBS10):c.39_46del (p.Ala14fs)
|
rs1555202806
|
|
NM_024685.4(BBS10):c.406T>C (p.Phe136Leu)
|
rs769181256
|
|
NM_024685.4(BBS10):c.409C>T (p.Gln137Ter)
|
rs2136091166
|
|
NM_024685.4(BBS10):c.414A>C (p.Thr138=)
|
|
|
NM_024685.4(BBS10):c.414del (p.Gln139fs)
|
rs1555202717
|
|
NM_024685.4(BBS10):c.415C>T (p.Gln139Ter)
|
|
|
NM_024685.4(BBS10):c.421T>C (p.Leu141=)
|
rs2136091159
|
|
NM_024685.4(BBS10):c.426C>T (p.Asp142=)
|
rs770799633
|
|
NM_024685.4(BBS10):c.439C>T (p.Gln147Ter)
|
rs199998327
|
|
NM_024685.4(BBS10):c.445C>T (p.Leu149=)
|
rs758553544
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
NM_024685.4(BBS10):c.448_449insAGGT (p.Ser150fs)
|
|
|
NM_024685.4(BBS10):c.450T>G (p.Ser150Arg)
|
rs573346325
|
|
NM_024685.4(BBS10):c.455A>G (p.His152Arg)
|
|
|
NM_024685.4(BBS10):c.455_456del (p.His152fs)
|
rs2136091120
|
|
NM_024685.4(BBS10):c.460T>C (p.Leu154=)
|
rs754415474
|
|
NM_024685.4(BBS10):c.461del (p.Leu154fs)
|
|
|
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.473C>G (p.Ser158Trp)
|
|
|
NM_024685.4(BBS10):c.474G>A (p.Ser158=)
|
rs375436323
|
|
NM_024685.4(BBS10):c.477T>A (p.Ser159=)
|
|
|
NM_024685.4(BBS10):c.481A>G (p.Lys161Glu)
|
|
|
NM_024685.4(BBS10):c.482_497del (p.Lys161fs)
|
|
|
NM_024685.4(BBS10):c.483dup (p.Glu162fs)
|
|
|
NM_024685.4(BBS10):c.484G>T (p.Glu162Ter)
|
|
|
NM_024685.4(BBS10):c.488_489del (p.Arg163fs)
|
|
|
NM_024685.4(BBS10):c.490A>C (p.Thr164Pro)
|
|
|
NM_024685.4(BBS10):c.490dup (p.Thr164fs)
|
rs2136091086
|
|
NM_024685.4(BBS10):c.496dup (p.Cys166fs)
|
|
|
NM_024685.4(BBS10):c.501G>C (p.Arg167Ser)
|
|
|
NM_024685.4(BBS10):c.504C>G (p.Ser168Arg)
|
|
|
NM_024685.4(BBS10):c.510A>G (p.Leu170=)
|
rs2136091058
|
|
NM_024685.4(BBS10):c.513G>A (p.Glu171=)
|
|
|
NM_024685.4(BBS10):c.522A>G (p.Leu174=)
|
rs2136091055
|
|
NM_024685.4(BBS10):c.524_526del (p.Glu175del)
|
rs2136091044
|
|
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.534T>C (p.Phe178=)
|
|
|
NM_024685.4(BBS10):c.534_535del (p.Phe178fs)
|
rs1555202698
|
|
NM_024685.4(BBS10):c.537T>A (p.Cys179Ter)
|
rs574032499
|
|
NM_024685.4(BBS10):c.544G>C (p.Val182Leu)
|
rs890996897
|
|
NM_024685.4(BBS10):c.54C>A (p.Ala18=)
|
rs772653493
|
|
NM_024685.4(BBS10):c.559_561del (p.His187del)
|
rs781421232
|
|
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln)
|
rs1001512051
|
|
NM_024685.4(BBS10):c.563A>T (p.Lys188Ile)
|
rs1239540905
|
|
NM_024685.4(BBS10):c.564A>G (p.Lys188=)
|
rs1951768043
|
|
NM_024685.4(BBS10):c.568_571del (p.Ile190fs)
|
rs1057516266
|
|
NM_024685.4(BBS10):c.569T>C (p.Ile190Thr)
|
|
|
NM_024685.4(BBS10):c.572C>T (p.Ser191Leu)
|
rs1951767969
|
|
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)
|
rs1057517184
|
|
NM_024685.4(BBS10):c.575A>C (p.Gln192Pro)
|
|
|
NM_024685.4(BBS10):c.577T>C (p.Leu193=)
|
rs1951767890
|
|
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser)
|
rs1951767864
|
|
NM_024685.4(BBS10):c.579G>A (p.Leu193=)
|
rs2136091005
|
|
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.597C>T (p.Phe199=)
|
|
|
NM_024685.4(BBS10):c.598A>T (p.Lys200Ter)
|
rs1951767589
|
|
NM_024685.4(BBS10):c.59T>C (p.Val20Ala)
|
|
|
NM_024685.4(BBS10):c.600G>A (p.Lys200=)
|
|
|
NM_024685.4(BBS10):c.60G>C (p.Val20=)
|
|
|
NM_024685.4(BBS10):c.60G>T (p.Val20=)
|
|
|
NM_024685.4(BBS10):c.621G>A (p.Gly207=)
|
rs2136090980
|
|
NM_024685.4(BBS10):c.625G>T (p.Gly209Cys)
|
rs1396355979
|
|
NM_024685.4(BBS10):c.627T>A (p.Gly209=)
|
rs2136090970
|
|
NM_024685.4(BBS10):c.62T>C (p.Leu21Pro)
|
|
|
NM_024685.4(BBS10):c.630A>G (p.Val210=)
|
rs759791957
|
|
NM_024685.4(BBS10):c.641T>A (p.Val214Glu)
|
|
|
NM_024685.4(BBS10):c.643_655del (p.Val214_Asp215insTer)
|
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
NM_024685.4(BBS10):c.647A>C (p.Asp216Ala)
|
|
|
NM_024685.4(BBS10):c.648C>A (p.Asp216Glu)
|
|
|
NM_024685.4(BBS10):c.648C>T (p.Asp216=)
|
rs748037727
|
|
NM_024685.4(BBS10):c.650A>G (p.His217Arg)
|
|
|
NM_024685.4(BBS10):c.655G>A (p.Val219Ile)
|
|
|
NM_024685.4(BBS10):c.655G>T (p.Val219Leu)
|
|
|
NM_024685.4(BBS10):c.663G>A (p.Leu221=)
|
|
|
NM_024685.4(BBS10):c.671G>C (p.Gly224Ala)
|
|
|
NM_024685.4(BBS10):c.681C>G (p.Gly227=)
|
rs886049851
|
|
NM_024685.4(BBS10):c.684T>C (p.Leu228=)
|
|
|
NM_024685.4(BBS10):c.685C>A (p.Pro229Thr)
|
|
|
NM_024685.4(BBS10):c.687T>A (p.Pro229=)
|
|
|
NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)
|
|
|
NM_024685.4(BBS10):c.69C>T (p.Ala23=)
|
rs2136091596
|
|
NM_024685.4(BBS10):c.700A>G (p.Arg234Gly)
|
|
|
NM_024685.4(BBS10):c.702G>A (p.Arg234=)
|
|
|
NM_024685.4(BBS10):c.706A>T (p.Ile236Leu)
|
|
|
NM_024685.4(BBS10):c.708A>G (p.Ile236Met)
|
rs1193290653
|
|
NM_024685.4(BBS10):c.708_711dup (p.Gly238fs)
|
|
|
NM_024685.4(BBS10):c.711T>C (p.Ala237=)
|
|
|
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.72C>T (p.Ile24=)
|
rs754188249
|
|
NM_024685.4(BBS10):c.733T>G (p.Phe245Val)
|
|
|
NM_024685.4(BBS10):c.738T>C (p.Ser246=)
|
|
|
NM_024685.4(BBS10):c.745C>T (p.Arg249Cys)
|
rs1242888821
|
|
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs)
|
rs1555202687
|
|
NM_024685.4(BBS10):c.750A>G (p.Pro250=)
|
rs2136090884
|
|
NM_024685.4(BBS10):c.752C>A (p.Ala251Glu)
|
|
|
NM_024685.4(BBS10):c.762C>T (p.Asp254=)
|
rs2136090876
|
|
NM_024685.4(BBS10):c.767G>T (p.Arg256Leu)
|
|
|
NM_024685.4(BBS10):c.784_785del (p.Glu262fs)
|
rs1555202681
|
|
NM_024685.4(BBS10):c.791T>G (p.Ile264Ser)
|
rs1236502453
|
|
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter)
|
rs775090151
|
|
NM_024685.4(BBS10):c.796C>G (p.Pro266Ala)
|
|
|
NM_024685.4(BBS10):c.797C>T (p.Pro266Leu)
|
|
|
NM_024685.4(BBS10):c.800T>A (p.Leu267His)
|
rs1592492358
|
|
NM_024685.4(BBS10):c.801T>G (p.Leu267=)
|
|
|
NM_024685.4(BBS10):c.804T>C (p.Phe268=)
|
rs770050659
|
|
NM_024685.4(BBS10):c.804_805del (p.Ser269fs)
|
rs1472533012
|
|
NM_024685.4(BBS10):c.805dup (p.Ser269fs)
|
|
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NM_024685.4(BBS10):c.807dup (p.Thr270fs)
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NM_024685.4(BBS10):c.813T>C (p.Ser271=)
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NM_024685.4(BBS10):c.815G>C (p.Gly272Ala)
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rs781723681
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NM_024685.4(BBS10):c.816A>G (p.Gly272=)
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NM_024685.4(BBS10):c.837A>G (p.Ser279=)
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rs2136090820
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NM_024685.4(BBS10):c.83G>C (p.Cys28Ser)
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NM_024685.4(BBS10):c.83_84delinsAG (p.Cys28Ter)
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rs1555202801
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NM_024685.4(BBS10):c.843A>C (p.Ala281=)
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NM_024685.4(BBS10):c.844_845del (p.Gln282fs)
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NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)
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rs1476664656
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NM_024685.4(BBS10):c.855A>T (p.Thr285=)
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rs1951765525
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NM_024685.4(BBS10):c.858T>C (p.Ser286=)
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rs1592492325
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NM_024685.4(BBS10):c.858_859dup (p.Gln287fs)
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rs1057516836
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NM_024685.4(BBS10):c.859C>T (p.Gln287Ter)
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NM_024685.4(BBS10):c.864_872del (p.Phe288_Met291delinsLeu)
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NM_024685.4(BBS10):c.876A>G (p.Glu292=)
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rs2136090796
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NM_024685.4(BBS10):c.879G>A (p.Lys293=)
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rs2136090790
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NM_024685.4(BBS10):c.881C>T (p.Thr294Ile)
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NM_024685.4(BBS10):c.883A>T (p.Lys295Ter)
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rs2136090788
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NM_024685.4(BBS10):c.894_897dup (p.His300fs)
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NM_024685.4(BBS10):c.899A>C (p.His300Pro)
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NM_024685.4(BBS10):c.901C>G (p.Leu301Val)
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rs1555202666
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NM_024685.4(BBS10):c.903A>G (p.Leu301=)
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rs2136090772
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NM_024685.4(BBS10):c.904C>T (p.His302Tyr)
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rs954562822
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NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
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rs780059308
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NM_024685.4(BBS10):c.912G>A (p.Gln304=)
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NM_024685.4(BBS10):c.91C>T (p.Pro31Ser)
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NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)
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NM_024685.4(BBS10):c.924G>T (p.Leu308Phe)
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NM_024685.4(BBS10):c.925C>T (p.Leu309Phe)
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rs2136090757
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NM_024685.4(BBS10):c.927C>G (p.Leu309=)
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NM_024685.4(BBS10):c.92C>T (p.Pro31Leu)
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rs1486182131
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NM_024685.4(BBS10):c.930A>G (p.Ile310Met)
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NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)
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rs137852837
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NM_024685.4(BBS10):c.932C>T (p.Ser311Phe)
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rs1951764875
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NM_024685.4(BBS10):c.933T>C (p.Ser311=)
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NM_024685.4(BBS10):c.93C>T (p.Pro31=)
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NM_024685.4(BBS10):c.943C>T (p.Gln315Ter)
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rs1592492255
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NM_024685.4(BBS10):c.945A>G (p.Gln315=)
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rs2136090742
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NM_024685.4(BBS10):c.946C>G (p.Pro316Ala)
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rs2136090741
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NM_024685.4(BBS10):c.94G>A (p.Glu32Lys)
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rs1208975003
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NM_024685.4(BBS10):c.951T>C (p.Asp317=)
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NM_024685.4(BBS10):c.953del (p.Asp317_Leu318insTer)
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rs2136090739
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NM_024685.4(BBS10):c.959_962del (p.Ser320fs)
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rs758522600
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NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys)
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rs771325212
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NM_024685.4(BBS10):c.963T>C (p.Tyr321=)
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rs1555202662
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NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter)
|
rs1555202662
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NM_024685.4(BBS10):c.967G>T (p.Ala323Ser)
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|
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NM_024685.4(BBS10):c.968C>T (p.Ala323Val)
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NM_024685.4(BBS10):c.969A>C (p.Ala323=)
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NM_024685.4(BBS10):c.969A>G (p.Ala323=)
|
rs1951764520
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NM_024685.4(BBS10):c.975G>A (p.Val325=)
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NM_024685.4(BBS10):c.992T>C (p.Val331Ala)
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NM_024685.4(BBS10):c.999T>A (p.Cys333Ter)
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rs1565809867
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NM_024685.4(BBS10):c.999T>C (p.Cys333=)
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rs1565809867
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NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
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NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg)
|
rs750665609
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NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)
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rs2136091654
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