NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
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.1000_1001insGA (p.Leu334Ter)
|
rs1555202657
|
0.00001
|
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.198-1G>C
|
rs1555202740
|
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
|
NM_024685.4(BBS10):c.1007C>G (p.Ser336Ter)
|
rs1555202656
|
|
NM_024685.4(BBS10):c.1012_1013del (p.Glu338fs)
|
rs1057516998
|
|
NM_024685.4(BBS10):c.1024del (p.Ile342fs)
|
rs765561672
|
|
NM_024685.4(BBS10):c.1056del (p.Pro353fs)
|
rs1057516623
|
|
NM_024685.4(BBS10):c.1064del (p.Gln355fs)
|
rs1555202654
|
|
NM_024685.4(BBS10):c.1076del (p.Gln359fs)
|
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1122dup (p.Ile375fs)
|
rs753604828
|
|
NM_024685.4(BBS10):c.1143_1147dup (p.His383fs)
|
rs1555202642
|
|
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.1190_1191del (p.Ile397fs)
|
rs1057517206
|
|
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)
|
rs1057517156
|
|
NM_024685.4(BBS10):c.130G>T (p.Glu44Ter)
|
rs1310735399
|
|
NM_024685.4(BBS10):c.1315del (p.Gln439fs)
|
rs1592491950
|
|
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.1338del (p.Phe446fs)
|
rs1389599028
|
|
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)
|
rs759682922
|
|
NM_024685.4(BBS10):c.1408del (p.Gln470fs)
|
rs1555202614
|
|
NM_024685.4(BBS10):c.1447dup (p.Thr483fs)
|
rs759185809
|
|
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs)
|
rs786204705
|
|
NM_024685.4(BBS10):c.1491delinsGA (p.Asp497fs)
|
rs1555202607
|
|
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)
|
rs886043841
|
|
NM_024685.4(BBS10):c.1526_1527dup (p.Thr510fs)
|
|
|
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.1554_1557del (p.Thr519fs)
|
|
|
NM_024685.4(BBS10):c.157_170dup (p.Leu58fs)
|
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1606del (p.Tyr536fs)
|
|
|
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
|
|
|
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.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter)
|
rs1555202583
|
|
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.1829T>G (p.Leu610Ter)
|
rs1555202572
|
|
NM_024685.4(BBS10):c.1860dup (p.Cys621fs)
|
|
|
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.2024dup (p.Thr676fs)
|
|
|
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.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.22_35delinsTCAG (p.Ala8fs)
|
|
|
NM_024685.4(BBS10):c.235del (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.27_37del (p.Ser10fs)
|
rs1278460471
|
|
NM_024685.4(BBS10):c.299_305del (p.Ile100fs)
|
rs1057516701
|
|
NM_024685.4(BBS10):c.320del (p.Pro107fs)
|
rs1555202731
|
|
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.414del (p.Gln139fs)
|
rs1555202717
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
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.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.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.590A>G (p.Tyr197Cys)
|
rs756632517
|
|
NM_024685.4(BBS10):c.641T>A (p.Val214Glu)
|
|
|
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.807dup (p.Thr270fs)
|
|
|
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.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.992T>C (p.Val331Ala)
|
|
|
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
|
|
|