NM_024649.5(BBS1):c.831-5C>T
|
rs56177555
|
0.00285
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)
|
rs138744839
|
0.00115
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)
|
rs146052054
|
0.00066
|
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)
|
rs139278612
|
0.00048
|
NM_024649.5(BBS1):c.*1349T>C
|
rs752758324
|
0.00035
|
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu)
|
rs151203205
|
0.00031
|
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val)
|
rs144492051
|
0.00028
|
NM_024649.5(BBS1):c.1194C>A (p.Ile398=)
|
rs200577824
|
0.00023
|
NM_024649.5(BBS1):c.432+5A>G
|
rs373923317
|
0.00021
|
NM_024649.5(BBS1):c.*522C>T
|
rs886048528
|
0.00020
|
NM_024649.5(BBS1):c.-3A>G
|
rs549210746
|
0.00019
|
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr)
|
rs145094101
|
0.00019
|
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu)
|
rs141255069
|
0.00016
|
NM_024649.5(BBS1):c.*104G>C
|
rs554182779
|
0.00014
|
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
|
rs145718265
|
0.00014
|
NM_024649.5(BBS1):c.1474-8C>T
|
rs398124402
|
0.00013
|
NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg)
|
rs199711874
|
0.00012
|
NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr)
|
rs760237505
|
0.00011
|
NM_024649.5(BBS1):c.981C>T (p.Pro327=)
|
rs142243482
|
0.00011
|
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp)
|
rs767395683
|
0.00009
|
NM_024649.5(BBS1):c.1110+15C>T
|
rs371084544
|
0.00009
|
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)
|
rs148948642
|
0.00009
|
NM_024649.5(BBS1):c.6C>T (p.Ala2=)
|
rs143592479
|
0.00009
|
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)
|
rs144833282
|
0.00008
|
NM_024649.5(BBS1):c.1243G>A (p.Val415Met)
|
rs150444177
|
0.00007
|
NM_024649.5(BBS1):c.*473C>T
|
rs886048526
|
0.00006
|
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser)
|
rs755782127
|
0.00006
|
NM_024649.5(BBS1):c.1394G>A (p.Arg465His)
|
rs146072788
|
0.00006
|
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser)
|
rs369653969
|
0.00006
|
NM_024649.5(BBS1):c.1535G>A (p.Arg512His)
|
rs202205304
|
0.00006
|
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp)
|
rs770105141
|
0.00006
|
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)
|
rs142648652
|
0.00006
|
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
|
rs199633103
|
0.00006
|
NM_024649.5(BBS1):c.569A>T (p.Lys190Met)
|
rs778672601
|
0.00006
|
NM_024649.5(BBS1):c.744C>T (p.Pro248=)
|
rs528073027
|
0.00006
|
NM_024649.5(BBS1):c.802C>T (p.Arg268Cys)
|
rs760381850
|
0.00006
|
NM_024649.5(BBS1):c.751C>G (p.Leu251Val)
|
rs951217740
|
0.00005
|
NM_024649.5(BBS1):c.901G>A (p.Val301Ile)
|
rs1037134217
|
0.00005
|
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)
|
rs746206916
|
0.00004
|
NM_024649.5(BBS1):c.163G>A (p.Val55Met)
|
rs181765153
|
0.00004
|
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile)
|
rs111358560
|
0.00004
|
NM_024649.5(BBS1):c.175C>G (p.Leu59Val)
|
rs113822005
|
0.00004
|
NM_024649.5(BBS1):c.274T>C (p.Phe92Leu)
|
rs778339359
|
0.00004
|
NM_024649.5(BBS1):c.432+13C>T
|
rs759287238
|
0.00004
|
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln)
|
rs759253107
|
0.00004
|
NM_024649.5(BBS1):c.830+12C>T
|
rs781283997
|
0.00004
|
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr)
|
rs368510687
|
0.00004
|
NM_024649.5(BBS1):c.908T>C (p.Val303Ala)
|
rs750668484
|
0.00004
|
NM_024649.5(BBS1):c.*1217C>A
|
rs1057306658
|
0.00003
|
NM_024649.5(BBS1):c.1067G>A (p.Arg356His)
|
rs771291825
|
0.00003
|
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)
|
rs368302072
|
0.00003
|
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=)
|
rs781014949
|
0.00003
|
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu)
|
rs369843749
|
0.00003
|
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr)
|
rs765960634
|
0.00003
|
NM_024649.5(BBS1):c.726G>A (p.Met242Ile)
|
rs773588060
|
0.00003
|
NM_024649.5(BBS1):c.*259C>A
|
rs1040142241
|
0.00002
|
NM_024649.5(BBS1):c.*950C>T
|
rs1344507018
|
0.00002
|
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)
|
rs183771956
|
0.00002
|
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)
|
rs758139447
|
0.00002
|
NM_024649.5(BBS1):c.1175C>A (p.Thr392Asn)
|
rs775513593
|
0.00002
|
NM_024649.5(BBS1):c.1474G>T (p.Val492Phe)
|
rs747604822
|
0.00002
|
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala)
|
rs1316472200
|
0.00002
|
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys)
|
rs184614863
|
0.00002
|
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr)
|
rs768098877
|
0.00002
|
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg)
|
rs1355873337
|
0.00002
|
NM_024649.5(BBS1):c.243G>A (p.Pro81=)
|
rs141429900
|
0.00002
|
NM_024649.5(BBS1):c.329C>A (p.Pro110His)
|
rs750288768
|
0.00002
|
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser)
|
rs190513580
|
0.00002
|
NM_024649.5(BBS1):c.43G>A (p.Glu15Lys)
|
rs761601575
|
0.00002
|
NM_024649.5(BBS1):c.518+5G>A
|
rs1428618323
|
0.00002
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
0.00002
|
NM_024649.5(BBS1):c.725T>C (p.Met242Thr)
|
rs771506842
|
0.00002
|
NM_024649.5(BBS1):c.808G>A (p.Gly270Arg)
|
rs754465006
|
0.00002
|
NM_024649.5(BBS1):c.877G>A (p.Val293Met)
|
rs769422545
|
0.00002
|
NM_152384.3(BBS5):c.226A>G (p.Ile76Val)
|
rs763696357
|
0.00002
|
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln)
|
rs764302265
|
0.00001
|
NM_024649.5(BBS1):c.*1088G>A
|
rs886048531
|
0.00001
|
NM_024649.5(BBS1):c.*10T>A
|
rs765633556
|
0.00001
|
NM_024649.5(BBS1):c.*1274A>G
|
rs192684991
|
0.00001
|
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp)
|
rs747656068
|
0.00001
|
NM_024649.5(BBS1):c.10G>T (p.Ala4Ser)
|
rs745375133
|
0.00001
|
NM_024649.5(BBS1):c.1121C>G (p.Thr374Ser)
|
rs759275651
|
0.00001
|
NM_024649.5(BBS1):c.1144G>A (p.Gly382Arg)
|
rs377297999
|
0.00001
|
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp)
|
rs143495423
|
0.00001
|
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln)
|
rs772235333
|
0.00001
|
NM_024649.5(BBS1):c.1181-6C>T
|
rs368445790
|
0.00001
|
NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp)
|
rs767247916
|
0.00001
|
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)
|
rs374356964
|
0.00001
|
NM_024649.5(BBS1):c.1320A>G (p.Arg440=)
|
rs1430151544
|
0.00001
|
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala)
|
rs765829383
|
0.00001
|
NM_024649.5(BBS1):c.1383A>G (p.Leu461=)
|
rs557739576
|
0.00001
|
NM_024649.5(BBS1):c.1395C>T (p.Arg465=)
|
rs756550025
|
0.00001
|
NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln)
|
rs779828966
|
0.00001
|
NM_024649.5(BBS1):c.1471G>A (p.Val491Met)
|
rs377469172
|
0.00001
|
NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala)
|
rs1856753561
|
0.00001
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu)
|
rs766602837
|
0.00001
|
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp)
|
rs544767888
|
0.00001
|
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys)
|
rs761304709
|
0.00001
|
NM_024649.5(BBS1):c.199C>T (p.Arg67Cys)
|
rs767385250
|
0.00001
|
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu)
|
rs1479663514
|
0.00001
|
NM_024649.5(BBS1):c.280A>G (p.Met94Val)
|
rs1376711744
|
0.00001
|
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)
|
rs878855095
|
0.00001
|
NM_024649.5(BBS1):c.441C>T (p.Ile147=)
|
rs544997496
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_024649.5(BBS1):c.447C>T (p.Pro149=)
|
rs763738657
|
0.00001
|
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)
|
rs748946143
|
0.00001
|
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg)
|
rs774163850
|
0.00001
|
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser)
|
rs1207942097
|
0.00001
|
NM_024649.5(BBS1):c.587G>A (p.Arg196Gln)
|
rs142769864
|
0.00001
|
NM_024649.5(BBS1):c.595G>A (p.Val199Ile)
|
rs1300549627
|
0.00001
|
NM_024649.5(BBS1):c.602C>T (p.Thr201Ile)
|
rs1368294392
|
0.00001
|
NM_024649.5(BBS1):c.636C>T (p.Asp212=)
|
rs775900681
|
0.00001
|
NM_024649.5(BBS1):c.646G>A (p.Val216Met)
|
rs764165386
|
0.00001
|
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)
|
rs761760689
|
0.00001
|
NM_024649.5(BBS1):c.708C>G (p.Phe236Leu)
|
rs1482951221
|
0.00001
|
NM_024649.5(BBS1):c.739G>A (p.Val247Ile)
|
rs763004810
|
0.00001
|
NM_024649.5(BBS1):c.742C>A (p.Pro248Thr)
|
rs544315396
|
0.00001
|
NM_024649.5(BBS1):c.772G>C (p.Asp258His)
|
rs779297419
|
0.00001
|
NM_024649.5(BBS1):c.803G>A (p.Arg268His)
|
rs375949076
|
0.00001
|
NM_024649.5(BBS1):c.830+3A>G
|
rs747229201
|
0.00001
|
NM_024649.5(BBS1):c.867C>T (p.Ser289=)
|
rs776322401
|
0.00001
|
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val)
|
rs373953762
|
|
NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln)
|
|
|
NM_024649.5(BBS1):c.*13_*21dup
|
rs750165500
|
|
NM_024649.5(BBS1):c.*474G>A
|
rs146244814
|
|
NM_024649.5(BBS1):c.*514C>T
|
rs886048527
|
|
NM_024649.5(BBS1):c.*51C>G
|
rs757289650
|
|
NM_024649.5(BBS1):c.*776G>A
|
rs1856839016
|
|
NM_024649.5(BBS1):c.*855G>A
|
rs886048530
|
|
NM_024649.5(BBS1):c.*886C>T
|
rs754365737
|
|
NM_024649.5(BBS1):c.1006C>G (p.Leu336Val)
|
rs765494351
|
|
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly)
|
rs1555048530
|
|
NM_024649.5(BBS1):c.1071T>C (p.Ile357=)
|
rs1856362378
|
|
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro)
|
rs540217506
|
|
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp)
|
rs752299442
|
|
NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly)
|
rs1160669210
|
|
NM_024649.5(BBS1):c.1180+5G>A
|
rs886048525
|
|
NM_024649.5(BBS1):c.1181-3T>G
|
rs1856511506
|
|
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr)
|
rs1346584719
|
|
NM_024649.5(BBS1):c.1339+163G>A
|
|
|
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys)
|
rs745460551
|
|
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys)
|
rs374706769
|
|
NM_024649.5(BBS1):c.1473G>A (p.Val491=)
|
rs1856699471
|
|
NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr)
|
rs1194392195
|
|
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu)
|
rs142648652
|
|
NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu)
|
rs778941006
|
|
NM_024649.5(BBS1):c.1631T>A (p.Leu544His)
|
rs1555050401
|
|
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal)
|
rs1555050422
|
|
NM_024649.5(BBS1):c.1695G>A (p.Lys565=)
|
rs1555050427
|
|
NM_024649.5(BBS1):c.1702G>A (p.Val568Met)
|
rs754300140
|
|
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)
|
rs1856803176
|
|
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter)
|
rs1450045618
|
|
NM_024649.5(BBS1):c.1752G>A (p.Met584Ile)
|
rs769773058
|
|
NM_024649.5(BBS1):c.198C>T (p.Pro66=)
|
rs1856007679
|
|
NM_024649.5(BBS1):c.227T>A (p.Val76Glu)
|
rs2134771309
|
|
NM_024649.5(BBS1):c.277C>T (p.Leu93Phe)
|
rs2134771383
|
|
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)
|
|
|
NM_024649.5(BBS1):c.316C>G (p.Leu106Val)
|
rs137853913
|
|
NM_024649.5(BBS1):c.316C>T (p.Leu106Phe)
|
rs137853913
|
|
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys)
|
rs753517084
|
|
NM_024649.5(BBS1):c.480-28G>C
|
|
|
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys)
|
rs148576114
|
|
NM_024649.5(BBS1):c.57C>G (p.Ala19=)
|
rs755026677
|
|
NM_024649.5(BBS1):c.592-7_592-5del
|
rs774944051
|
|
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn)
|
rs2134780459
|
|
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg)
|
rs1856141438
|
|
NM_024649.5(BBS1):c.77C>T (p.Ala26Val)
|
rs866558676
|
|
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu)
|
rs372939761
|
|
NM_024649.5(BBS1):c.830+72A>G
|
rs2134785377
|
|
NM_024649.5(BBS1):c.831-3C>G
|
rs113994179
|
|
NM_024649.5(BBS1):c.910G>T (p.Val304Leu)
|
rs1228755309
|
|
NM_024649.5(BBS1):c.951+1G>C
|
|
|
NM_024649.5(BBS1):c.951+58C>T
|
rs1856346961
|
|
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg)
|
rs1555048487
|
|