NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly)
|
rs111442398
|
0.00154
|
NM_176824.3(BBS7):c.*353G>A
|
rs570995801
|
0.00100
|
NM_176824.3(BBS7):c.171G>A (p.Val57=)
|
rs144525608
|
0.00060
|
NM_176824.3(BBS7):c.*1526C>T
|
rs546122158
|
0.00041
|
NM_176824.3(BBS7):c.223A>G (p.Ile75Val)
|
rs138872188
|
0.00039
|
NM_176824.3(BBS7):c.1158A>G (p.Thr386=)
|
rs146617227
|
0.00029
|
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)
|
rs150743868
|
0.00025
|
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)
|
rs146412602
|
0.00023
|
NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe)
|
rs200373010
|
0.00020
|
NM_176824.3(BBS7):c.*1324G>A
|
rs181687808
|
0.00018
|
NM_176824.3(BBS7):c.*513C>T
|
rs577071672
|
0.00016
|
NM_176824.3(BBS7):c.*709G>C
|
rs886059050
|
0.00016
|
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu)
|
rs375084239
|
0.00011
|
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser)
|
rs370656021
|
0.00011
|
NM_176824.3(BBS7):c.917T>C (p.Val306Ala)
|
rs373378747
|
0.00011
|
NM_176824.3(BBS7):c.*724C>T
|
rs1025886041
|
0.00009
|
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)
|
rs141224967
|
0.00009
|
NM_176824.3(BBS7):c.191C>T (p.Pro64Leu)
|
rs747055521
|
0.00009
|
NM_176824.3(BBS7):c.839G>A (p.Arg280Gln)
|
rs749970544
|
0.00009
|
NM_176824.3(BBS7):c.*1139T>C
|
rs542533305
|
0.00008
|
NM_176824.3(BBS7):c.1311C>T (p.Asn437=)
|
rs199812109
|
0.00008
|
NM_176824.3(BBS7):c.2108A>G (p.Tyr703Cys)
|
rs375825705
|
0.00008
|
NM_176824.3(BBS7):c.1142T>C (p.Ile381Thr)
|
rs374288473
|
0.00006
|
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr)
|
rs143700362
|
0.00006
|
NM_176824.3(BBS7):c.683G>A (p.Arg228His)
|
rs369866009
|
0.00006
|
NM_176824.3(BBS7):c.1036C>T (p.Arg346Trp)
|
rs533535422
|
0.00005
|
NM_176824.3(BBS7):c.*605G>A
|
rs886059051
|
0.00004
|
NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile)
|
rs534408910
|
0.00004
|
NM_176824.3(BBS7):c.601+3A>G
|
rs747555346
|
0.00004
|
NM_176824.3(BBS7):c.863G>A (p.Ser288Asn)
|
rs750276510
|
0.00004
|
NM_176824.3(BBS7):c.974A>G (p.Glu325Gly)
|
rs1255872676
|
0.00004
|
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln)
|
rs370716101
|
0.00003
|
NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp)
|
rs768987725
|
0.00003
|
NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser)
|
rs771957843
|
0.00003
|
NM_176824.3(BBS7):c.1746A>G (p.Lys582=)
|
rs1185659710
|
0.00003
|
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly)
|
rs201096775
|
0.00003
|
NM_176824.3(BBS7):c.908A>T (p.Asp303Val)
|
rs1261951183
|
0.00003
|
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr)
|
rs758567781
|
0.00002
|
NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln)
|
rs372685495
|
0.00002
|
NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys)
|
rs747889031
|
0.00002
|
NM_176824.3(BBS7):c.2146T>C (p.Ter716Arg)
|
rs200470633
|
0.00002
|
NM_176824.3(BBS7):c.37G>A (p.Val13Met)
|
rs753027552
|
0.00002
|
NM_176824.3(BBS7):c.442A>C (p.Asn148His)
|
rs982037757
|
0.00002
|
NM_176824.3(BBS7):c.478C>T (p.Arg160Cys)
|
rs756538454
|
0.00002
|
NM_176824.3(BBS7):c.508A>G (p.Arg170Gly)
|
rs199891330
|
0.00002
|
NM_176824.3(BBS7):c.532T>A (p.Ser178Thr)
|
rs750684046
|
0.00002
|
NM_176824.3(BBS7):c.*1361A>T
|
rs544492413
|
0.00001
|
NM_176824.3(BBS7):c.*996T>C
|
rs886059049
|
0.00001
|
NM_176824.3(BBS7):c.-137A>G
|
rs1727529496
|
0.00001
|
NM_176824.3(BBS7):c.1069T>G (p.Leu357Val)
|
rs906692940
|
0.00001
|
NM_176824.3(BBS7):c.1091A>C (p.Gln364Pro)
|
rs746699644
|
0.00001
|
NM_176824.3(BBS7):c.1124C>T (p.Ala375Val)
|
rs749603454
|
0.00001
|
NM_176824.3(BBS7):c.1139G>A (p.Gly380Asp)
|
rs921736196
|
0.00001
|
NM_176824.3(BBS7):c.1184G>A (p.Ser395Asn)
|
rs889491713
|
0.00001
|
NM_176824.3(BBS7):c.1190T>C (p.Ile397Thr)
|
rs1725962975
|
0.00001
|
NM_176824.3(BBS7):c.1306-5C>T
|
rs1475632900
|
0.00001
|
NM_176824.3(BBS7):c.1334A>G (p.Tyr445Cys)
|
rs776931328
|
0.00001
|
NM_176824.3(BBS7):c.1344G>C (p.Gln448His)
|
rs1473005529
|
0.00001
|
NM_176824.3(BBS7):c.1421C>G (p.Pro474Arg)
|
rs771018739
|
0.00001
|
NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr)
|
rs886059053
|
0.00001
|
NM_176824.3(BBS7):c.1487G>A (p.Arg496Lys)
|
rs750133083
|
0.00001
|
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr)
|
rs200788672
|
0.00001
|
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly)
|
rs746759579
|
0.00001
|
NM_176824.3(BBS7):c.1592T>C (p.Val531Ala)
|
rs778439860
|
0.00001
|
NM_176824.3(BBS7):c.1676+7C>G
|
rs1247015446
|
0.00001
|
NM_176824.3(BBS7):c.1691T>C (p.Val564Ala)
|
rs1463083357
|
0.00001
|
NM_176824.3(BBS7):c.1717A>G (p.Ile573Val)
|
rs751029709
|
0.00001
|
NM_176824.3(BBS7):c.1721C>G (p.Ser574Cys)
|
rs765782762
|
0.00001
|
NM_176824.3(BBS7):c.1729A>C (p.Lys577Gln)
|
rs200953128
|
0.00001
|
NM_176824.3(BBS7):c.1904A>T (p.His635Leu)
|
rs1233960628
|
0.00001
|
NM_176824.3(BBS7):c.1916C>T (p.Thr639Met)
|
rs773771144
|
0.00001
|
NM_176824.3(BBS7):c.1960G>C (p.Asp654His)
|
rs143632090
|
0.00001
|
NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys)
|
rs1044486579
|
0.00001
|
NM_176824.3(BBS7):c.198T>G (p.Ile66Met)
|
rs367765050
|
0.00001
|
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr)
|
rs1342336710
|
0.00001
|
NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys)
|
rs1013002037
|
0.00001
|
NM_176824.3(BBS7):c.2017A>T (p.Met673Leu)
|
rs1436556570
|
0.00001
|
NM_176824.3(BBS7):c.257C>T (p.Ala86Val)
|
rs1274597386
|
0.00001
|
NM_176824.3(BBS7):c.262T>G (p.Ser88Ala)
|
rs1489244436
|
0.00001
|
NM_176824.3(BBS7):c.277T>G (p.Phe93Val)
|
rs750813339
|
0.00001
|
NM_176824.3(BBS7):c.329G>A (p.Ser110Asn)
|
rs775395171
|
0.00001
|
NM_176824.3(BBS7):c.479G>A (p.Arg160His)
|
rs138270119
|
0.00001
|
NM_176824.3(BBS7):c.640G>A (p.Gly214Arg)
|
rs1226167451
|
0.00001
|
NM_176824.3(BBS7):c.650C>T (p.Ala217Val)
|
rs370510563
|
0.00001
|
NM_176824.3(BBS7):c.651G>A (p.Ala217=)
|
rs750691939
|
0.00001
|
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr)
|
rs766450289
|
0.00001
|
NM_176824.3(BBS7):c.786T>A (p.Asp262Glu)
|
rs1437278443
|
0.00001
|
NM_176824.3(BBS7):c.849+6T>G
|
rs759955004
|
0.00001
|
NM_176824.3(BBS7):c.852G>A (p.Met284Ile)
|
rs771877302
|
0.00001
|
NM_176824.3(BBS7):c.895A>G (p.Lys299Glu)
|
rs1275186434
|
0.00001
|
NM_176824.3(BBS7):c.944C>T (p.Thr315Ile)
|
rs1488474028
|
0.00001
|
NM_176824.3(BBS7):c.964A>G (p.Ile322Val)
|
rs762359988
|
0.00001
|
NM_176824.3(BBS7):c.983C>A (p.Pro328Gln)
|
rs778714139
|
0.00001
|
NM_176824.3(BBS7):c.*1161A>G
|
rs918127402
|
|
NM_176824.3(BBS7):c.*1209_*1211del
|
rs886059048
|
|
NM_176824.3(BBS7):c.*273T>C
|
rs190252263
|
|
NM_176824.3(BBS7):c.*304A>C
|
rs886059052
|
|
NM_176824.3(BBS7):c.*828A>G
|
rs879827169
|
|
NM_176824.3(BBS7):c.-98C>T
|
rs546649349
|
|
NM_176824.3(BBS7):c.1012A>T (p.Met338Leu)
|
rs1726067918
|
|
NM_176824.3(BBS7):c.1024A>G (p.Ile342Val)
|
rs1726067128
|
|
NM_176824.3(BBS7):c.1037+5C>T
|
rs749266895
|
|
NM_176824.3(BBS7):c.1038G>A (p.Arg346=)
|
rs989502021
|
|
NM_176824.3(BBS7):c.1052A>G (p.His351Arg)
|
|
|
NM_176824.3(BBS7):c.1052A>T (p.His351Leu)
|
rs940315256
|
|
NM_176824.3(BBS7):c.1087T>C (p.Tyr363His)
|
rs2149068941
|
|
NM_176824.3(BBS7):c.1100C>T (p.Ser367Phe)
|
|
|
NM_176824.3(BBS7):c.110T>C (p.Ile37Thr)
|
|
|
NM_176824.3(BBS7):c.1160T>C (p.Leu387Pro)
|
rs2149068760
|
|
NM_176824.3(BBS7):c.1198G>A (p.Val400Ile)
|
|
|
NM_176824.3(BBS7):c.1207G>A (p.Ala403Thr)
|
rs761858167
|
|
NM_176824.3(BBS7):c.1214A>G (p.Asp405Gly)
|
|
|
NM_176824.3(BBS7):c.1231-3T>C
|
rs1725872645
|
|
NM_176824.3(BBS7):c.1237G>A (p.Val413Ile)
|
rs2149066894
|
|
NM_176824.3(BBS7):c.1243A>C (p.Ile415Leu)
|
rs1299054607
|
|
NM_176824.3(BBS7):c.127G>A (p.Val43Ile)
|
|
|
NM_176824.3(BBS7):c.1289G>A (p.Ser430Asn)
|
rs1410107664
|
|
NM_176824.3(BBS7):c.1312G>A (p.Asp438Asn)
|
|
|
NM_176824.3(BBS7):c.1327G>A (p.Ala443Thr)
|
|
|
NM_176824.3(BBS7):c.1334A>C (p.Tyr445Ser)
|
|
|
NM_176824.3(BBS7):c.1334A>T (p.Tyr445Phe)
|
rs776931328
|
|
NM_176824.3(BBS7):c.1340G>A (p.Cys447Tyr)
|
rs2149061880
|
|
NM_176824.3(BBS7):c.1340G>T (p.Cys447Phe)
|
rs2149061880
|
|
NM_176824.3(BBS7):c.136T>G (p.Cys46Gly)
|
|
|
NM_176824.3(BBS7):c.1375C>A (p.Arg459Ser)
|
rs150743868
|
|
NM_176824.3(BBS7):c.1379C>T (p.Ser460Leu)
|
|
|
NM_176824.3(BBS7):c.1451G>A (p.Arg484His)
|
rs200720761
|
|
NM_176824.3(BBS7):c.1451G>C (p.Arg484Pro)
|
rs200720761
|
|
NM_176824.3(BBS7):c.1457A>G (p.Tyr486Cys)
|
rs2149056521
|
|
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter)
|
rs1470030897
|
|
NM_176824.3(BBS7):c.1459C>A (p.His487Asn)
|
rs1725389767
|
|
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly)
|
rs1560643809
|
|
NM_176824.3(BBS7):c.148A>G (p.Lys50Glu)
|
rs1727082207
|
|
NM_176824.3(BBS7):c.1504C>T (p.His502Tyr)
|
rs2149056423
|
|
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser)
|
rs763160690
|
|
NM_176824.3(BBS7):c.1522A>G (p.Thr508Ala)
|
|
|
NM_176824.3(BBS7):c.1558G>A (p.Val520Ile)
|
rs1211533033
|
|
NM_176824.3(BBS7):c.1604C>T (p.Pro535Leu)
|
rs1725285743
|
|
NM_176824.3(BBS7):c.1607C>T (p.Pro536Leu)
|
|
|
NM_176824.3(BBS7):c.1641C>G (p.Asn547Lys)
|
|
|
NM_176824.3(BBS7):c.165+5G>C
|
rs760257318
|
|
NM_176824.3(BBS7):c.166G>T (p.Ala56Ser)
|
rs1407094427
|
|
NM_176824.3(BBS7):c.1677-11T>G
|
|
|
NM_176824.3(BBS7):c.1712C>T (p.Ser571Phe)
|
rs1295543172
|
|
NM_176824.3(BBS7):c.1764A>G (p.Lys588=)
|
|
|
NM_176824.3(BBS7):c.1785C>T (p.Tyr595=)
|
|
|
NM_176824.3(BBS7):c.1787-11A>G
|
|
|
NM_176824.3(BBS7):c.1788G>T (p.Glu596Asp)
|
|
|
NM_176824.3(BBS7):c.1825A>G (p.Ile609Val)
|
|
|
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe)
|
rs1725011147
|
|
NM_176824.3(BBS7):c.1890+15C>T
|
rs761350391
|
|
NM_176824.3(BBS7):c.1890+2dup
|
|
|
NM_176824.3(BBS7):c.1890+6T>C
|
rs1553930514
|
|
NM_176824.3(BBS7):c.1891-2A>C
|
rs1057519027
|
|
NM_176824.3(BBS7):c.1923T>A (p.Phe641Leu)
|
|
|
NM_176824.3(BBS7):c.1940A>G (p.His647Arg)
|
|
|
NM_176824.3(BBS7):c.1970A>G (p.Gln657Arg)
|
rs1724997637
|
|
NM_176824.3(BBS7):c.1975G>C (p.Glu659Gln)
|
|
|
NM_176824.3(BBS7):c.1978T>C (p.Tyr660His)
|
|
|
NM_176824.3(BBS7):c.1979A>G (p.Tyr660Cys)
|
rs757308523
|
|
NM_176824.3(BBS7):c.2007A>T (p.Arg669Ser)
|
|
|
NM_176824.3(BBS7):c.2015G>T (p.Gly672Val)
|
|
|
NM_176824.3(BBS7):c.2035A>G (p.Ile679Val)
|
|
|
NM_176824.3(BBS7):c.2042A>C (p.Lys681Thr)
|
|
|
NM_176824.3(BBS7):c.2046T>G (p.Phe682Leu)
|
|
|
NM_176824.3(BBS7):c.2057G>A (p.Gly686Asp)
|
|
|
NM_176824.3(BBS7):c.2062A>T (p.Asn688Tyr)
|
rs2149045701
|
|
NM_176824.3(BBS7):c.2074A>G (p.Lys692Glu)
|
rs1724883700
|
|
NM_176824.3(BBS7):c.2083C>A (p.Leu695Ile)
|
|
|
NM_176824.3(BBS7):c.2105G>T (p.Ser702Ile)
|
|
|
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg)
|
rs1229720963
|
|
NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)
|
|
|
NM_176824.3(BBS7):c.214G>A (p.Gly72Arg)
|
|
|
NM_176824.3(BBS7):c.268A>G (p.Ile90Val)
|
|
|
NM_176824.3(BBS7):c.270T>G (p.Ile90Met)
|
|
|
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly)
|
rs1050167281
|
|
NM_176824.3(BBS7):c.301C>G (p.Leu101Val)
|
rs2149087474
|
|
NM_176824.3(BBS7):c.302T>A (p.Leu101His)
|
rs760863058
|
|
NM_176824.3(BBS7):c.326A>G (p.Glu109Gly)
|
rs2149087444
|
|
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe)
|
rs1726975256
|
|
NM_176824.3(BBS7):c.337G>T (p.Ala113Ser)
|
rs2149087425
|
|
NM_176824.3(BBS7):c.340A>C (p.Met114Leu)
|
rs142305911
|
|
NM_176824.3(BBS7):c.340A>G (p.Met114Val)
|
rs142305911
|
|
NM_176824.3(BBS7):c.342-3C>G
|
rs1244071022
|
|
NM_176824.3(BBS7):c.346A>G (p.Ile116Val)
|
rs2149085075
|
|
NM_176824.3(BBS7):c.362T>A (p.Leu121His)
|
rs2149085046
|
|
NM_176824.3(BBS7):c.379T>G (p.Tyr127Asp)
|
rs2149085024
|
|
NM_176824.3(BBS7):c.389A>C (p.Asn130Thr)
|
rs2149085001
|
|
NM_176824.3(BBS7):c.391C>T (p.His131Tyr)
|
|
|
NM_176824.3(BBS7):c.398G>A (p.Cys133Tyr)
|
rs769735978
|
|
NM_176824.3(BBS7):c.436A>G (p.Lys146Glu)
|
|
|
NM_176824.3(BBS7):c.443A>G (p.Asn148Ser)
|
rs2149084908
|
|
NM_176824.3(BBS7):c.446A>C (p.Asp149Ala)
|
|
|
NM_176824.3(BBS7):c.454T>C (p.Cys152Arg)
|
rs863224814
|
|
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser)
|
rs370690441
|
|
NM_176824.3(BBS7):c.497C>T (p.Ala166Val)
|
rs1341540567
|
|
NM_176824.3(BBS7):c.500G>A (p.Cys167Tyr)
|
|
|
NM_176824.3(BBS7):c.505G>C (p.Asp169His)
|
|
|
NM_176824.3(BBS7):c.511G>C (p.Val171Leu)
|
|
|
NM_176824.3(BBS7):c.535G>A (p.Asp179Asn)
|
rs2149080347
|
|
NM_176824.3(BBS7):c.543G>A (p.Met181Ile)
|
|
|
NM_176824.3(BBS7):c.574G>C (p.Val192Leu)
|
|
|
NM_176824.3(BBS7):c.578T>C (p.Leu193Ser)
|
rs1726562977
|
|
NM_176824.3(BBS7):c.584T>C (p.Leu195Pro)
|
|
|
NM_176824.3(BBS7):c.586C>T (p.His196Tyr)
|
|
|
NM_176824.3(BBS7):c.587A>G (p.His196Arg)
|
rs886059054
|
|
NM_176824.3(BBS7):c.590A>G (p.Asn197Ser)
|
|
|
NM_176824.3(BBS7):c.600C>A (p.Gly200=)
|
rs370053625
|
|
NM_176824.3(BBS7):c.600C>T (p.Gly200=)
|
rs370053625
|
|
NM_176824.3(BBS7):c.602-4G>T
|
|
|
NM_176824.3(BBS7):c.632C>G (p.Thr211Arg)
|
rs119466002
|
|
NM_176824.3(BBS7):c.635C>T (p.Ser212Leu)
|
|
|
NM_176824.3(BBS7):c.640G>C (p.Gly214Arg)
|
|
|
NM_176824.3(BBS7):c.655A>G (p.Ile219Val)
|
rs2149079121
|
|
NM_176824.3(BBS7):c.682C>T (p.Arg228Cys)
|
rs762367354
|
|
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)
|
rs1727380420
|
|
NM_176824.3(BBS7):c.711G>T (p.Lys237Asn)
|
|
|
NM_176824.3(BBS7):c.718+3A>T
|
|
|
NM_176824.3(BBS7):c.718G>A (p.Gly240Ser)
|
|
|
NM_176824.3(BBS7):c.737G>A (p.Ser246Asn)
|
rs1444684339
|
|
NM_176824.3(BBS7):c.746T>A (p.Ile249Asn)
|
|
|
NM_176824.3(BBS7):c.746T>G (p.Ile249Ser)
|
|
|
NM_176824.3(BBS7):c.748G>C (p.Val250Leu)
|
|
|
NM_176824.3(BBS7):c.748G>T (p.Val250Leu)
|
rs759886973
|
|
NM_176824.3(BBS7):c.758G>A (p.Gly253Glu)
|
|
|
NM_176824.3(BBS7):c.785A>G (p.Asp262Gly)
|
rs1726405384
|
|
NM_176824.3(BBS7):c.794T>C (p.Met265Thr)
|
rs1726404404
|
|
NM_176824.3(BBS7):c.821C>G (p.Ala274Gly)
|
|
|
NM_176824.3(BBS7):c.821C>T (p.Ala274Val)
|
rs754878470
|
|
NM_176824.3(BBS7):c.82A>G (p.Arg28Gly)
|
rs2149094179
|
|
NM_176824.3(BBS7):c.842T>A (p.Phe281Tyr)
|
|
|
NM_176824.3(BBS7):c.847C>G (p.Gln283Glu)
|
|
|
NM_176824.3(BBS7):c.850-10A>G
|
|
|
NM_176824.3(BBS7):c.880G>A (p.Gly294Ser)
|
|
|
NM_176824.3(BBS7):c.886T>C (p.Cys296Arg)
|
rs2149072518
|
|
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg)
|
rs1726155956
|
|
NM_176824.3(BBS7):c.935-18T>G
|
|
|
NM_176824.3(BBS7):c.935G>C (p.Gly312Ala)
|
|
|
NM_176824.3(BBS7):c.945A>G (p.Thr315=)
|
|
|
NM_176824.3(BBS7):c.947G>T (p.Gly316Val)
|
|
|
NM_176824.3(BBS7):c.94A>G (p.Thr32Ala)
|
|
|
NM_176824.3(BBS7):c.976A>G (p.Ser326Gly)
|
rs863224815
|
|