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_024685.4(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.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.*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.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.*1140A>G
|
rs886049842
|
0.00003
|
NM_024685.4(BBS10):c.*1204T>A
|
rs886049839
|
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.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.908G>C (p.Ser303Thr)
|
rs1160564103
|
0.00003
|
NM_024685.4(BBS10):c.1164C>T (p.Ser388=)
|
rs1484593364
|
0.00002
|
NM_024685.4(BBS10):c.1230T>G (p.His410Gln)
|
rs1447555059
|
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.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.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.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_024685.4(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.1144G>T (p.Val382Phe)
|
rs775492103
|
0.00001
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573
|
0.00001
|
NM_024685.4(BBS10):c.1211A>G (p.His404Arg)
|
rs964776134
|
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.1407T>G (p.Tyr469Ter)
|
rs1356713858
|
0.00001
|
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn)
|
rs750994616
|
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.1804G>C (p.Val602Leu)
|
rs778431173
|
0.00001
|
NM_024685.4(BBS10):c.1893G>C (p.Met631Ile)
|
rs144428139
|
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.198-1G>C
|
rs1555202740
|
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.2142T>G (p.Val714=)
|
rs1463359253
|
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.270T>G (p.Leu90=)
|
rs200390697
|
0.00001
|
NM_024685.4(BBS10):c.337A>G (p.Ile113Val)
|
rs969686018
|
0.00001
|
NM_024685.4(BBS10):c.393G>A (p.Gln131=)
|
rs369066076
|
0.00001
|
NM_024685.4(BBS10):c.434T>C (p.Met145Thr)
|
rs144312522
|
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.6A>G (p.Leu2=)
|
rs1333383849
|
0.00001
|
NM_024685.4(BBS10):c.783A>G (p.Thr261=)
|
rs768475584
|
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.955G>C (p.Val319Leu)
|
rs769233464
|
0.00001
|
NM_024685.4(BBS10):c.*1145A>C
|
rs886049841
|
|
NM_024685.4(BBS10):c.*1275A>C
|
rs886049837
|
|
NM_024685.4(BBS10):c.*48G>C
|
rs1951752530
|
|
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.1007C>G (p.Ser336Ter)
|
rs1555202656
|
|
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.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.1044_1045del (p.Pro350fs)
|
rs587777837
|
|
NM_024685.4(BBS10):c.1056del (p.Pro353fs)
|
rs1057516623
|
|
NM_024685.4(BBS10):c.1064del (p.Gln355fs)
|
rs1555202654
|
|
NM_024685.4(BBS10):c.106G>T (p.Val36Phe)
|
rs896544129
|
|
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.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1092C>T (p.Asn364=)
|
rs1951763479
|
|
NM_024685.4(BBS10):c.1122dup (p.Ile375fs)
|
rs753604828
|
|
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val)
|
rs11109474
|
|
NM_024685.4(BBS10):c.1138dup (p.Arg380fs)
|
rs1555202645
|
|
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.1158G>A (p.Leu386=)
|
rs138702315
|
|
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.1187_1188del (p.Ser396fs)
|
rs1555202636
|
|
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.1202G>A (p.Gly401Glu)
|
rs199474722
|
|
NM_024685.4(BBS10):c.1203A>T (p.Gly401=)
|
rs1951762391
|
|
NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr)
|
|
|
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr)
|
rs1951762170
|
|
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)
|
rs1057517156
|
|
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val)
|
rs537219462
|
|
NM_024685.4(BBS10):c.130G>T (p.Glu44Ter)
|
rs1310735399
|
|
NM_024685.4(BBS10):c.1315del (p.Gln439fs)
|
rs1592491950
|
|
NM_024685.4(BBS10):c.1330dup (p.Ser444fs)
|
|
|
NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs)
|
rs1389599028
|
|
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.1338del (p.Phe446fs)
|
rs1389599028
|
|
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.1400G>A (p.Arg467Lys)
|
rs1022090476
|
|
NM_024685.4(BBS10):c.1408del (p.Gln470fs)
|
rs1555202614
|
|
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.1447dup (p.Thr483fs)
|
rs759185809
|
|
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs)
|
rs786204705
|
|
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.1491delinsGA (p.Asp497fs)
|
rs1555202607
|
|
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.1526_1527dup (p.Thr510fs)
|
|
|
NM_024685.4(BBS10):c.1530A>G (p.Thr510=)
|
rs1951758841
|
|
NM_024685.4(BBS10):c.1533del (p.Thr512fs)
|
rs773864735
|
|
NM_024685.4(BBS10):c.1538dup (p.Thr514fs)
|
rs1555202599
|
|
NM_024685.4(BBS10):c.1542del (p.Asp515fs)
|
rs1057517031
|
|
NM_024685.4(BBS10):c.1547del (p.Thr516fs)
|
rs869025211
|
|
NM_024685.4(BBS10):c.1554_1557del (p.Thr519fs)
|
|
|
NM_024685.4(BBS10):c.1555_1564del (p.Thr519fs)
|
|
|
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.157_170dup (p.Leu58fs)
|
|
|
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.1606del (p.Tyr536fs)
|
|
|
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
|
|
|
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp)
|
rs770880993
|
|
NM_024685.4(BBS10):c.1654_1655del (p.Gly552fs)
|
|
|
NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs)
|
rs1057516669
|
|
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.1684T>C (p.Leu562=)
|
rs111773727
|
|
NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter)
|
rs1555202583
|
|
NM_024685.4(BBS10):c.1696A>C (p.Asn566His)
|
rs144402299
|
|
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
|
|
|
NM_024685.4(BBS10):c.171_174dup (p.His59fs)
|
|
|
NM_024685.4(BBS10):c.1724del (p.Pro575fs)
|
rs1057516754
|
|
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
NM_024685.4(BBS10):c.1780A>G (p.Met594Val)
|
rs1951756219
|
|
NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser)
|
rs756523417
|
|
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
|
|
|
NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter)
|
rs1555202572
|
|
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.1871C>G (p.Ser624Ter)
|
rs768385647
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.1952del (p.Lys651fs)
|
rs1555202562
|
|
NM_024685.4(BBS10):c.1959del (p.Pro655fs)
|
rs1057516628
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.197+4C>T
|
rs886049852
|
|
NM_024685.4(BBS10):c.1973A>T (p.Tyr658Phe)
|
rs886049848
|
|
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.2052del (p.Lys684fs)
|
rs1951753726
|
|
NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter)
|
rs1555202546
|
|
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly)
|
rs529208223
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs)
|
rs1555202538
|
|
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>T (p.Leu723=)
|
rs1003705267
|
|
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.251_257dup (p.Phe86fs)
|
rs1555202737
|
|
NM_024685.4(BBS10):c.253del (p.Thr85fs)
|
|
|
NM_024685.4(BBS10):c.254_255insG (p.Phe86fs)
|
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.27_37del (p.Ser10fs)
|
rs1278460471
|
|
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.310_311del (p.Glu104fs)
|
rs2136091244
|
|
NM_024685.4(BBS10):c.320del (p.Pro107fs)
|
rs1555202731
|
|
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.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.378G>A (p.Trp126Ter)
|
rs1057516753
|
|
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.414del (p.Gln139fs)
|
rs1555202717
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
NM_024685.4(BBS10):c.460T>C (p.Leu154=)
|
rs754415474
|
|
NM_024685.4(BBS10):c.461del (p.Leu154fs)
|
|
|
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
|
rs553291328
|
|
NM_024685.4(BBS10):c.484G>T (p.Glu162Ter)
|
|
|
NM_024685.4(BBS10):c.488_489del (p.Arg163fs)
|
|
|
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.534_535del (p.Phe178fs)
|
rs1555202698
|
|
NM_024685.4(BBS10):c.537T>A (p.Cys179Ter)
|
rs574032499
|
|
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln)
|
rs1001512051
|
|
NM_024685.4(BBS10):c.568_571del (p.Ile190fs)
|
rs1057516266
|
|
NM_024685.4(BBS10):c.569T>C (p.Ile190Thr)
|
|
|
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)
|
rs1057517184
|
|
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.641T>A (p.Val214Glu)
|
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
NM_024685.4(BBS10):c.648C>T (p.Asp216=)
|
rs748037727
|
|
NM_024685.4(BBS10):c.681C>G (p.Gly227=)
|
rs886049851
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs)
|
rs1555202687
|
|
NM_024685.4(BBS10):c.784_785del (p.Glu262fs)
|
rs1555202681
|
|
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.807dup (p.Thr270fs)
|
|
|
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala)
|
rs781723681
|
|
NM_024685.4(BBS10):c.83_84delinsAG (p.Cys28Ter)
|
rs1555202801
|
|
NM_024685.4(BBS10):c.844_845del (p.Gln282fs)
|
|
|
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)
|
rs1476664656
|
|
NM_024685.4(BBS10):c.858_859dup (p.Gln287fs)
|
rs1057516836
|
|
NM_024685.4(BBS10):c.859C>T (p.Gln287Ter)
|
|
|
NM_024685.4(BBS10):c.899A>C (p.His300Pro)
|
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)
|
|
|
NM_024685.4(BBS10):c.924G>T (p.Leu308Phe)
|
|
|
NM_024685.4(BBS10):c.930A>G (p.Ile310Met)
|
|
|
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)
|
rs137852837
|
|
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)
|
rs758522600
|
|
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys)
|
rs771325212
|
|
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter)
|
rs1555202662
|
|
NM_024685.4(BBS10):c.969A>G (p.Ala323=)
|
rs1951764520
|
|
NM_024685.4(BBS10):c.992T>C (p.Val331Ala)
|
|
|
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
|
|
|
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg)
|
rs750665609
|
|
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)
|
rs2136091654
|
|