ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1095
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.(?_169492874)_(169493836_?)del
NC_000002.12:g.(?_63378386)_(63404657_?)del
NC_000002.12:g.(?_63484584)_(63492960_?)del
NC_000002.12:g.169504481_169504487del
NC_000004.12:g.(?_122741883)_(122744035_?)del
NC_000007.13:g.(?_33185845)_(33185996_?)dup
NC_000007.13:g.(?_33423258)_(33427776_?)dup
NC_000007.14:g.(?_33095234)_(33146364_?)dup
NC_000007.14:g.(?_33505463)_(33505645_?)del
NC_000007.14:g.(?_33505463)_(33605226_?)del
NC_000009.11:g.(?_119460012)_(119461993_?)dup
NC_000009.12:g.(?_116618324)_(116805820_?)del
NC_000009.12:g.(?_116697723)_(116699724_?)del
NC_000009.12:g.(?_116697733)_(116699714_?)del
NC_000009.12:g.(?_116697743)_(116699704_?)del
NC_000009.12:g.(?_116697743)_(116820783_?)del
NC_000011.10:g.(?_66510640)_(66523902_?)del
NC_000011.10:g.(?_66510650)_(66511249_?)del
NC_000011.10:g.(?_66510650)_(66524211_?)del
NC_000011.10:g.(?_66519607)_(66521386_?)del
NC_000011.10:g.(?_66523446)_(66524211_?)del
NC_000011.10:g.(?_66529809)_(66532047_?)del
NC_000012.12:g.(?_76345803)_(76348368_?)del
NC_000014.8:g.(?_88852143)_(89343774_?)dup
NC_000015.10:g.(?_72676034)_(72704515_?)dup
NC_000015.10:g.(?_72686218)_(72686261_?)del
NC_000015.10:g.(?_72709680)_(72712327_?)del
NC_000015.10:g.(?_72715271)_(72716870_?)del
NC_000016.9:g.(?_56518653)_(56545216_?)del
NM_001365068.1(ASTN2):c.2806+26072G>A rs899549661
NM_001365068.1(ASTN2):c.2806+26075T>C rs763172140
NM_001365068.1(ASTN2):c.2806+26079A>G rs1273018123
NM_001365068.1(ASTN2):c.2806+26099T>C rs1462453134
NM_001365068.1(ASTN2):c.2806+26147C>T rs1360716233
NM_001365068.1(ASTN2):c.2806+26172C>T rs746299779
NM_001365068.1(ASTN2):c.2806+26191C>T rs199704873
NM_001365068.1(ASTN2):c.2806+26272C>A rs866695848
NM_001365068.1(ASTN2):c.2806+26319C>T rs555217187
NM_001365068.1(ASTN2):c.2806+26341C>T rs138056275
NM_001365068.1(ASTN2):c.2806+26346del rs1564218190
NM_001365068.1(ASTN2):c.2806+26367A>G rs372044621
NM_001365068.1(ASTN2):c.2806+26387C>T rs946701093
NM_001365068.1(ASTN2):c.2806+26410C>T rs761503419
NM_001365068.1(ASTN2):c.2806+26450C>T rs368901621
NM_001365068.1(ASTN2):c.2806+26456_2806+26462del rs886044106
NM_001365068.1(ASTN2):c.2806+26541G>C rs371233848
NM_001365068.1(ASTN2):c.2806+26570C>T rs111033570
NM_001365068.1(ASTN2):c.2806+26642C>G rs886043897
NM_001365068.1(ASTN2):c.2806+26643C>T rs762905941
NM_001365068.1(ASTN2):c.2806+26645C>T rs772922696
NM_001365068.1(ASTN2):c.2806+26675G>A rs747067557
NM_001365068.1(ASTN2):c.2806+26703A>T rs1372713940
NM_001365068.1(ASTN2):c.2806+26754A>G rs150813870
NM_001365068.1(ASTN2):c.2806+26803C>T rs145828717
NM_001365068.1(ASTN2):c.2806+26804G>A rs765158423
NM_001365068.1(ASTN2):c.2806+26806C>T rs183136193
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_001365068.1(ASTN2):c.2806+26833G>A rs1182257457
NM_001365068.1(ASTN2):c.2806+26848C>T rs121434447
NM_001365068.1(ASTN2):c.2806+26861G>A rs754554333
NM_001365068.1(ASTN2):c.2806+26867C>T rs886042328
NM_001365068.1(ASTN2):c.2806+26889G>A rs142715198
NM_001365068.1(ASTN2):c.2806+26922del rs759376012
NM_001365068.1(ASTN2):c.2806+26983G>C rs774316527
NM_001365068.1(ASTN2):c.2806+26987C>A rs771427815
NM_001365068.1(ASTN2):c.2806+26990C>G rs1564217118
NM_001365068.1(ASTN2):c.2806+27017C>T rs141806013
NM_001365068.1(ASTN2):c.2806+27025C>T rs778321975
NM_001365068.1(ASTN2):c.2806+27043G>A rs377510422
NM_001365068.1(ASTN2):c.2806+27050T>C rs373287765
NM_001365068.1(ASTN2):c.2806+27091G>A rs794727284
NM_001365068.1(ASTN2):c.2806+27122C>T rs144532174
NM_001365068.1(ASTN2):c.2806+27140T>C rs759742371
NM_001365068.1(ASTN2):c.2806+27154C>T rs1554732992
NM_001365068.1(ASTN2):c.2806+27156A>C rs766687896
NM_001365068.1(ASTN2):c.2806+27166G>T rs367574371
NM_001365068.1(ASTN2):c.2806+27217C>T rs773872830
NM_001365068.1(ASTN2):c.2806+27222C>T rs1184553729
NM_001365068.1(ASTN2):c.2806+27234G>C rs756049046
NM_001365068.1(ASTN2):c.2806+27259G>C rs3747834
NM_001365068.1(ASTN2):c.2806+27329G>T rs886043553
NM_001365068.1(ASTN2):c.2806+27341T>C rs139113969
NM_001365068.1(ASTN2):c.2806+27351G>A rs398124253
NM_001365068.1(ASTN2):c.2806+27369C>G rs3747833
NM_001365068.1(ASTN2):c.2806+27379T>C rs374248541
NM_001365068.1(ASTN2):c.2806+27471C>G rs117599771
NM_001365068.1(ASTN2):c.2806+27508G>A rs138699534
NM_001365068.1(ASTN2):c.2806+27528C>T rs200085883
NM_001365068.1(ASTN2):c.2806+27532C>T rs759945386
NM_001365068.1(ASTN2):c.2806+27533G>A rs752016708
NM_001365068.1(ASTN2):c.2806+27541A>G rs775940650
NM_001365068.1(ASTN2):c.2806+27549C>T rs200196832
NM_001365068.1(ASTN2):c.2806+27550A>C rs199699832
NM_001365068.1(ASTN2):c.2806+27550A>G rs199699832
NM_001365068.1(ASTN2):c.2806+27562A>G rs145907585
NM_001365068.1(ASTN2):c.2806+27565C>T rs777914761
NM_001365068.1(ASTN2):c.2806+27589C>T rs552938001
NM_001365068.1(ASTN2):c.2806+27616A>C rs918796736
NM_001365068.1(ASTN2):c.2806+27620G>A rs200997003
NM_001365068.1(ASTN2):c.2806+27625G>A rs141953092
NM_001365068.1(ASTN2):c.2806+27641G>A rs111033571
NM_001365068.1(ASTN2):c.2806+27652G>A rs755478136
NM_001365068.1(ASTN2):c.2806+27663G>C rs137947083
NM_001365068.1(ASTN2):c.2806+27692G>A rs762785784
NM_001365068.1(ASTN2):c.2806+27699T>C rs770015462
NM_001365068.1(ASTN2):c.2806+27713G>A rs1390593037
NM_001365068.1(ASTN2):c.2806+27737G>T rs201877419
NM_001365068.1(ASTN2):c.2806+27753G>A rs140589523
NM_001365068.1(ASTN2):c.2806+27772A>G rs200326473
NM_001365068.1(ASTN2):c.2806+27828A>G rs780799984
NM_001365068.1(ASTN2):c.2806+27865C>A rs1564215128
NM_001365068.1(ASTN2):c.2806+27902T>C rs764366522
NM_001365068.1(ASTN2):c.2806+27960G>A rs575633576
NM_001365068.1(ASTN2):c.2806+27985C>T rs1341334730
NM_001365068.1(ASTN2):c.2806+27986G>A rs1202455552
NM_001365068.1(ASTN2):c.2806+28002C>G rs201891227
NM_001365068.1(ASTN2):c.2806+28023A>C rs141352486
NM_012210.4(TRIM32):c.1081A>T (p.Met361Leu)
NM_012210.4(TRIM32):c.1110G>A (p.Met370Ile)
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300
NM_012210.4(TRIM32):c.1361T>C (p.Val454Ala)
NM_012210.4(TRIM32):c.1370dup (p.Leu457fs)
NM_012210.4(TRIM32):c.1400G>C (p.Ser467Thr)
NM_012210.4(TRIM32):c.1544G>A (p.Arg515Gln)
NM_012210.4(TRIM32):c.1551A>G (p.Lys517=)
NM_012210.4(TRIM32):c.1695T>G (p.Ile565Met)
NM_012210.4(TRIM32):c.1709C>T (p.Ser570Leu)
NM_012210.4(TRIM32):c.176T>C (p.Val59Ala)
NM_012210.4(TRIM32):c.1855C>T (p.Pro619Ser)
NM_012210.4(TRIM32):c.1874C>T (p.Thr625Ile)
NM_012210.4(TRIM32):c.1931G>T (p.Ser644Ile)
NM_012210.4(TRIM32):c.1934A>G (p.Tyr645Cys)
NM_012210.4(TRIM32):c.1948T>C (p.Tyr650His)
NM_012210.4(TRIM32):c.1959A>G (p.Pro653=)
NM_012210.4(TRIM32):c.206G>A (p.Arg69His)
NM_012210.4(TRIM32):c.232G>A (p.Asp78Asn)
NM_012210.4(TRIM32):c.236A>G (p.Asn79Ser)
NM_012210.4(TRIM32):c.244G>A (p.Val82Met)
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr)
NM_012210.4(TRIM32):c.276C>A (p.Ser92Arg)
NM_012210.4(TRIM32):c.277G>A (p.Glu93Lys)
NM_012210.4(TRIM32):c.280G>A (p.Ala94Thr)
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln)
NM_012210.4(TRIM32):c.325C>T (p.Arg109Trp)
NM_012210.4(TRIM32):c.32T>C (p.Leu11Pro)
NM_012210.4(TRIM32):c.347G>A (p.Gly116Asp)
NM_012210.4(TRIM32):c.398A>G (p.His133Arg)
NM_012210.4(TRIM32):c.40C>T (p.Leu14Phe)
NM_012210.4(TRIM32):c.434G>A (p.Arg145Gln)
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)
NM_012210.4(TRIM32):c.480G>C (p.Met160Ile)
NM_012210.4(TRIM32):c.494G>T (p.Arg165Leu)
NM_012210.4(TRIM32):c.55G>C (p.Glu19Gln)
NM_012210.4(TRIM32):c.578G>A (p.Arg193His)
NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter)
NM_012210.4(TRIM32):c.737T>C (p.Ile246Thr)
NM_012210.4(TRIM32):c.758del (p.Leu253fs)
NM_012210.4(TRIM32):c.781G>A (p.Glu261Lys)
NM_012210.4(TRIM32):c.97C>T (p.Arg33Cys)
NM_015910.7(WDPCP):c.1028G>A (p.Cys343Tyr)
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu) rs141011629
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623
NM_015910.7(WDPCP):c.10G>A (p.Glu4Lys)
NM_015910.7(WDPCP):c.1102C>T (p.Arg368Cys) rs769112221
NM_015910.7(WDPCP):c.1166G>A (p.Gly389Asp) rs1575343526
NM_015910.7(WDPCP):c.1206A>T (p.Gln402His)
NM_015910.7(WDPCP):c.1242A>G (p.Gln414=)
NM_015910.7(WDPCP):c.1258C>T (p.Arg420Cys)
NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe) rs189817127
NM_015910.7(WDPCP):c.1267A>G (p.Arg423Gly)
NM_015910.7(WDPCP):c.130T>C (p.Trp44Arg)
NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile) rs367727948
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) rs199676595
NM_015910.7(WDPCP):c.1331T>G (p.Ile444Arg)
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.7(WDPCP):c.1347_1348del (p.Gln451fs)
NM_015910.7(WDPCP):c.1356G>A (p.Lys452=) rs372258764
NM_015910.7(WDPCP):c.1356G>T (p.Lys452Asn)
NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu) rs768802269
NM_015910.7(WDPCP):c.1436-4A>G
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile) rs201412509
NM_015910.7(WDPCP):c.1451G>A (p.Gly484Glu)
NM_015910.7(WDPCP):c.1530C>A (p.Ser510Arg)
NM_015910.7(WDPCP):c.1575C>T (p.Ser525=) rs375693256
NM_015910.7(WDPCP):c.1591_1593CTT[1] (p.Leu532del) rs748711953
NM_015910.7(WDPCP):c.159G>A (p.Ala53=) rs192196713
NM_015910.7(WDPCP):c.1625-3C>T
NM_015910.7(WDPCP):c.166G>C (p.Asp56His)
NM_015910.7(WDPCP):c.1687A>G (p.Ile563Val)
NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val) rs141845729
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile)
NM_015910.7(WDPCP):c.1798C>G (p.Arg600Gly)
NM_015910.7(WDPCP):c.1813-3C>T
NM_015910.7(WDPCP):c.1849G>A (p.Ala617Thr)
NM_015910.7(WDPCP):c.1872_1875dup (p.Ala626fs)
NM_015910.7(WDPCP):c.1916-2A>G rs763299856
NM_015910.7(WDPCP):c.1916-6C>T rs2421862
NM_015910.7(WDPCP):c.193A>G (p.Lys65Glu)
NM_015910.7(WDPCP):c.1945A>G (p.Met649Val) rs759281211
NM_015910.7(WDPCP):c.1951A>C (p.Asn651His)
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_015910.7(WDPCP):c.208+1G>A
NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser) rs369786224
NM_015910.7(WDPCP):c.218A>G (p.His73Arg)
NM_015910.7(WDPCP):c.2192A>T (p.Glu731Val)
NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg) rs200170138
NM_015910.7(WDPCP):c.2230G>A (p.Gly744Ser)
NM_015910.7(WDPCP):c.272C>T (p.Thr91Met) rs753130718
NM_015910.7(WDPCP):c.308C>T (p.Ser103Leu)
NM_015910.7(WDPCP):c.316G>C (p.Glu106Gln)
NM_015910.7(WDPCP):c.333G>A (p.Met111Ile)
NM_015910.7(WDPCP):c.334C>G (p.Gln112Glu)
NM_015910.7(WDPCP):c.385-3del rs559429215
NM_015910.7(WDPCP):c.385C>G (p.Leu129Val) rs191796211
NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe)
NM_015910.7(WDPCP):c.46A>C (p.Ser16Arg)
NM_015910.7(WDPCP):c.477C>T (p.Leu159=) rs774300078
NM_015910.7(WDPCP):c.551T>C (p.Leu184Pro)
NM_015910.7(WDPCP):c.60C>A (p.Ser20=) rs757553495
NM_015910.7(WDPCP):c.633+2T>C
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser)
NM_015910.7(WDPCP):c.677A>T (p.Glu226Val)
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867
NM_015910.7(WDPCP):c.728C>T (p.Pro243Leu)
NM_015910.7(WDPCP):c.738C>T (p.Asn246=) rs543308588
NM_015910.7(WDPCP):c.760_786del (p.Pro254_Ala262del) rs774995085
NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser) rs17617459
NM_015910.7(WDPCP):c.805T>C (p.Tyr269His)
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991
NM_015910.7(WDPCP):c.842G>A (p.Arg281His)
NM_015910.7(WDPCP):c.845C>G (p.Thr282Arg)
NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys) rs374934704
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser) rs765923597
NM_015910.7(WDPCP):c.924A>G (p.Val308=) rs201844706
NM_015910.7(WDPCP):c.955T>G (p.Tyr319Asp) rs863224771
NM_015910.7(WDPCP):c.967C>T (p.Arg323Trp)
NM_015910.7(WDPCP):c.985G>A (p.Val329Met) rs199959383
NM_015910.7(WDPCP):c.990A>G (p.Ser330=) rs371090606
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) rs869025205
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp)
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547
NM_024649.5(BBS1):c.1059A>G (p.Gly353=) rs199692416
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu)
NM_024649.5(BBS1):c.1111-2A>G
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447
NM_024649.5(BBS1):c.1155C>G (p.Asp385Glu)
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln) rs772235333
NM_024649.5(BBS1):c.1181-6C>T rs368445790
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824
NM_024649.5(BBS1):c.1235del (p.Gly412fs)
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) rs1060503690
NM_024649.5(BBS1):c.1243G>A (p.Val415Met)
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr)
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys)
NM_024649.5(BBS1):c.138A>G (p.Leu46=) rs1590754166
NM_024649.5(BBS1):c.1395C>T (p.Arg465=) rs756550025
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys) rs374706769
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125
NM_024649.5(BBS1):c.1473+4A>G rs1486200900
NM_024649.5(BBS1):c.1474-8C>T rs398124402
NM_024649.5(BBS1):c.1485T>C (p.Leu495=) rs373894194
NM_024649.5(BBS1):c.1533C>T (p.Thr511=) rs112953332
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser)
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_024649.5(BBS1):c.1565T>C (p.Leu522Pro)
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) rs1316472200
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu)
NM_024649.5(BBS1):c.1614del (p.Leu539fs)
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.5(BBS1):c.1695+10G>A rs200276861
NM_024649.5(BBS1):c.1695+9C>T rs756514477
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044
NM_024649.5(BBS1):c.1737T>G (p.Ser579Arg)
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560
NM_024649.5(BBS1):c.175C>G (p.Leu59Val)
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys) rs761304709
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) rs144492051
NM_024649.5(BBS1):c.1773G>A (p.Ala591=) rs147783319
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749
NM_024649.5(BBS1):c.194A>G (p.Gln65Arg)
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter)
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.230T>C (p.Met77Thr)
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839
NM_024649.5(BBS1):c.235G>T (p.Glu79Ter)
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu)
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024649.5(BBS1):c.253C>T (p.Leu85=) rs748727758
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.319dup (p.Ala107fs)
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr)
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.360C>T (p.Pro120=) rs373756451
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095
NM_024649.5(BBS1):c.417G>A (p.Trp139Ter)
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.432+5A>G
NM_024649.5(BBS1):c.433-5C>T rs542052064
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) rs759253107
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
NM_024649.5(BBS1):c.480-2A>C
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg)
NM_024649.5(BBS1):c.518+5G>A
NM_024649.5(BBS1):c.54G>A (p.Glu18=) rs761128852
NM_024649.5(BBS1):c.569A>T (p.Lys190Met) rs778672601
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser)
NM_024649.5(BBS1):c.57C>G (p.Ala19=) rs755026677
NM_024649.5(BBS1):c.592-7_592-5del
NM_024649.5(BBS1):c.595_598del (p.Val199fs) rs1555047409
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg)
NM_024649.5(BBS1):c.688del (p.Val230fs)
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024649.5(BBS1):c.71dup (p.Leu24fs)
NM_024649.5(BBS1):c.723+1G>C
NM_024649.5(BBS1):c.723+7G>A rs770220426
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_024649.5(BBS1):c.725T>C (p.Met242Thr)
NM_024649.5(BBS1):c.726G>A (p.Met242Ile) rs773588060
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu)
NM_024649.5(BBS1):c.738C>T (p.Ser246=) rs775266312
NM_024649.5(BBS1):c.739G>A (p.Val247Ile)
NM_024649.5(BBS1):c.744C>T (p.Pro248=) rs528073027
NM_024649.5(BBS1):c.750C>T (p.Phe250=) rs750108791
NM_024649.5(BBS1):c.751C>G (p.Leu251Val)
NM_024649.5(BBS1):c.771T>G (p.Phe257Leu)
NM_024649.5(BBS1):c.77C>T (p.Ala26Val)
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) rs372939761
NM_024649.5(BBS1):c.798C>G (p.Ala266=) rs1408073931
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.831-5C>T rs56177555
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn) rs780169168
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr) rs145094101
NM_024649.5(BBS1):c.901G>A (p.Val301Ile)
NM_024649.5(BBS1):c.951+7C>A rs780784789
NM_024649.5(BBS1):c.952-7C>G rs1590767187
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482
NM_024685.4(BBS10):c.1010_1012AAG[1] (p.Glu338del)
NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr)
NM_024685.4(BBS10):c.102G>T (p.Arg34=) rs376601112
NM_024685.4(BBS10):c.1041T>C (p.Gly347=) rs747390360
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1050A>G (p.Pro350=) rs370953693
NM_024685.4(BBS10):c.1074G>A (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1112G>C (p.Cys371Ser)
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu) rs775492103
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp)
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1185C>G (p.His395Gln) rs863224793
NM_024685.4(BBS10):c.1211A>G (p.His404Arg)
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr)
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.1258A>C (p.Met420Leu)
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu) rs149596527
NM_024685.4(BBS10):c.1287T>C (p.Asp429=) rs771468663
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555
NM_024685.4(BBS10):c.136C>T (p.Leu46Phe)
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter) rs759682922
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys)
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val) rs200718870
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761
NM_024685.4(BBS10):c.1452_1455del (p.Gln484fs) rs1565809597
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093
NM_024685.4(BBS10):c.147G>A (p.Arg49=) rs1592493118
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.1506_1507AT[2] (p.Ile504fs) rs886043841
NM_024685.4(BBS10):c.1514_1520del (p.Pro505fs)
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309
NM_024685.4(BBS10):c.1548A>T (p.Thr516=) rs771662934
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter)
NM_024685.4(BBS10):c.1566G>A (p.Thr522=) rs1200334802
NM_024685.4(BBS10):c.1588A>G (p.Arg530Gly)
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys)
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114
NM_024685.4(BBS10):c.1617A>G (p.Pro539=) rs150467742
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp)
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys)
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr)
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu)
NM_024685.4(BBS10):c.1743G>A (p.Pro581=) rs150530553
NM_024685.4(BBS10):c.1776A>G (p.Ser592=) rs549089224
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)
NM_024685.4(BBS10):c.1871C>T (p.Ser624Leu)
NM_024685.4(BBS10):c.1918A>G (p.Ile640Val) rs748647079
NM_024685.4(BBS10):c.1941T>G (p.Ser647=) rs749965019
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala)
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732
NM_024685.4(BBS10):c.198-10T>C rs376497190
NM_024685.4(BBS10):c.198-3C>T
NM_024685.4(BBS10):c.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.2052del (p.Lys684fs)
NM_024685.4(BBS10):c.2091A>C (p.Lys697Asn)
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253
NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter)
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe)
NM_024685.4(BBS10):c.257_261del (p.Phe86fs) rs1060500996
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859
NM_024685.4(BBS10):c.344C>T (p.Thr115Ile)
NM_024685.4(BBS10):c.350G>C (p.Gly117Ala)
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter)
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878
NM_024685.4(BBS10):c.375G>A (p.Arg125=) rs376030299
NM_024685.4(BBS10):c.380A>G (p.Lys127Arg)
NM_024685.4(BBS10):c.383T>C (p.Phe128Ser) rs1592492746
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe)
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024685.4(BBS10):c.406T>C (p.Phe136Leu)
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024685.4(BBS10):c.429T>C (p.Gly143=) rs146587757
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861
NM_024685.4(BBS10):c.434T>C (p.Met145Thr)
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
NM_024685.4(BBS10):c.474G>A (p.Ser158=) rs375436323
NM_024685.4(BBS10):c.474G>T (p.Ser158=) rs375436323
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln) rs1001512051
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly)
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del)
NM_024685.4(BBS10):c.598A>T (p.Lys200Ter)
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala) rs753138845
NM_024685.4(BBS10):c.625G>T (p.Gly209Cys)
NM_024685.4(BBS10):c.637T>C (p.Leu213=) rs367795705
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791
NM_024685.4(BBS10):c.763A>G (p.Met255Val)
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_024685.4(BBS10):c.783A>G (p.Thr261=) rs768475584
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala)
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081
NM_024685.4(BBS10):c.861A>G (p.Gln287=) rs753223078
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr)
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.92C>T (p.Pro31Leu)
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly)
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702
NM_024685.4(BBS10):c.999T>A (p.Cys333Ter) rs1565809867
NM_031885.4(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.4(BBS2):c.109A>G (p.Thr37Ala) rs1284353332
NM_031885.4(BBS2):c.1104C>T (p.Asn368=) rs141731677
NM_031885.4(BBS2):c.1110T>C (p.Ala370=) rs148990271
NM_031885.4(BBS2):c.111G>A (p.Thr37=) rs191867233
NM_031885.4(BBS2):c.1134A>G (p.Pro378=) rs185178790
NM_031885.4(BBS2):c.1152C>T (p.His384=) rs774493134
NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_031885.4(BBS2):c.126T>G (p.Ile42Met) rs139945733
NM_031885.4(BBS2):c.1380C>T (p.Phe460=) rs141046144
NM_031885.4(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1437T>C (p.Pro479=) rs747415803
NM_031885.4(BBS2):c.1438C>T (p.Arg480Ter) rs778090540
NM_031885.4(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.4(BBS2):c.1523A>C (p.Gln508Pro) rs115328064
NM_031885.4(BBS2):c.1608A>G (p.Thr536=) rs778892001
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.4(BBS2):c.175C>T (p.Gln59Ter) rs121908176
NM_031885.4(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.4(BBS2):c.1780C>T (p.Arg594Ter) rs762047808
NM_031885.4(BBS2):c.1814C>G (p.Ser605Ter) rs201063733
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.4(BBS2):c.1885G>A (p.Glu629Lys) rs746505864
NM_031885.4(BBS2):c.1894C>T (p.Arg632Cys) rs200021475
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.4(BBS2):c.1953T>C (p.Asn651=) rs200621431
NM_031885.4(BBS2):c.2079G>A (p.Gln693=) rs150797250
NM_031885.4(BBS2):c.209= (p.Asn70=) rs4784677
NM_031885.4(BBS2):c.209A>G (p.Asn70Ser) rs4784677
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_031885.4(BBS2):c.235A>C (p.Thr79Pro) rs1387025330
NM_031885.4(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.4(BBS2):c.30G>A (p.Leu10=) rs1258834563
NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.4(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.4(BBS2):c.345+10A>G rs770249850
NM_031885.4(BBS2):c.358G>A (p.Ala120Thr) rs148808295
NM_031885.4(BBS2):c.367A>G (p.Ile123Val) rs11373
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.4(BBS2):c.471+3_471+4delinsCA rs1567582876
NM_031885.4(BBS2):c.472-10T>C rs138714256
NM_031885.4(BBS2):c.525A>G (p.Gly175=) rs34191306
NM_031885.4(BBS2):c.534+1G>T rs773862084
NM_031885.4(BBS2):c.537T>A (p.Leu179=) rs1450648224
NM_031885.4(BBS2):c.563del (p.Ile188fs) rs1367927635
NM_031885.4(BBS2):c.565C>T (p.Arg189Ter) rs1273181642
NM_031885.4(BBS2):c.627T>C (p.Leu209=) rs752010652
NM_031885.4(BBS2):c.642C>T (p.Gly214=) rs141563594
NM_031885.4(BBS2):c.646C>T (p.Arg216Ter) rs121908180
NM_031885.4(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.4(BBS2):c.700C>T (p.Arg234Ter) rs779690256
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.4(BBS2):c.744T>C (p.His248=) rs186893286
NM_031885.4(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.4(BBS2):c.783A>C (p.Ile261=) rs183982328
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_031885.4(BBS2):c.814C>T (p.Arg272Ter) rs764164384
NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) rs121908177
NM_031885.4(BBS2):c.865A>G (p.Ile289Val) rs150384293
NM_031885.4(BBS2):c.870C>T (p.Ala290=) rs750516217
NM_031885.4(BBS2):c.941-2A>C rs878962682
NM_031885.4(BBS2):c.943C>T (p.Arg315Trp) rs121908178
NM_031885.4(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.4(BBS2):c.984C>T (p.Leu328=) rs1285508370
NM_031885.4(BBS2):c.995G>A (p.Ser332Asn) rs199655331
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp)
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)
NM_031885.5(BBS2):c.117+5C>T
NM_031885.5(BBS2):c.1208G>C (p.Arg403Pro)
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe)
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser)
NM_031885.5(BBS2):c.1297A>G (p.Ser433Gly)
NM_031885.5(BBS2):c.1398-2A>G
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val)
NM_031885.5(BBS2):c.1469A>G (p.Asp490Gly)
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs)
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp)
NM_031885.5(BBS2):c.1527+5G>C
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val)
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg)
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val)
NM_031885.5(BBS2):c.1690G>A (p.Ala564Thr)
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser)
NM_031885.5(BBS2):c.1797G>A (p.Lys599=)
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys)
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs)
NM_031885.5(BBS2):c.1843dup (p.Ala615fs)
NM_031885.5(BBS2):c.184C>G (p.Leu62Val)
NM_031885.5(BBS2):c.1852T>G (p.Ser618Ala)
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)
NM_031885.5(BBS2):c.1982G>A (p.Arg661His)
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln)
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp)
NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr)
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly)
NM_031885.5(BBS2):c.35A>G (p.His12Arg)
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)
NM_031885.5(BBS2):c.440del (p.Phe147fs)
NM_031885.5(BBS2):c.504del (p.Leu168fs)
NM_031885.5(BBS2):c.581A>G (p.Asp194Gly)
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585
NM_031885.5(BBS2):c.68G>C (p.Arg23Pro)
NM_031885.5(BBS2):c.717+5G>A
NM_031885.5(BBS2):c.718-2A>C
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)
NM_031885.5(BBS2):c.774del (p.Asn258fs)
NM_031885.5(BBS2):c.804+1_804+14del
NM_031885.5(BBS2):c.941-1G>C
NM_031885.5(BBS2):c.962C>T (p.Thr321Met)
NM_031885.5(BBS2):c.983T>A (p.Leu328His)
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn)
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser) rs150395094
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_033028.5(BBS4):c.1107G>A (p.Lys369=)
NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs)
NM_033028.5(BBS4):c.1126dup (p.Leu376fs)
NM_033028.5(BBS4):c.1140G>A (p.Val380=) rs141511580
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del)
NM_033028.5(BBS4):c.1179C>T (p.Ala393=) rs780560947
NM_033028.5(BBS4):c.1200G>C (p.Lys400Asn)
NM_033028.5(BBS4):c.1215C>G (p.Leu405=) rs3759869
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser)
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164
NM_033028.5(BBS4):c.1248+1G>T
NM_033028.5(BBS4):c.1248+4T>C
NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr)
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly)
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro) rs749034070
NM_033028.5(BBS4):c.134G>A (p.Arg45Gln)
NM_033028.5(BBS4):c.1369A>G (p.Ser457Gly)
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)
NM_033028.5(BBS4):c.1440G>A (p.Thr480=) rs148682268
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs)
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs) rs398124432
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys) rs145168232
NM_033028.5(BBS4):c.24+8C>T rs200055760
NM_033028.5(BBS4):c.248T>G (p.Ile83Ser)
NM_033028.5(BBS4):c.282A>G (p.Ala94=) rs370868102
NM_033028.5(BBS4):c.289A>C (p.Ser97Arg)
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)
NM_033028.5(BBS4):c.333-1G>C
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe)
NM_033028.5(BBS4):c.341del (p.Leu114fs) rs750258633
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr)
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser) rs151164191
NM_033028.5(BBS4):c.405+10G>C rs1216711857
NM_033028.5(BBS4):c.405+6T>C
NM_033028.5(BBS4):c.461C>T (p.Ala154Val)
NM_033028.5(BBS4):c.463C>A (p.Gln155Lys)
NM_033028.5(BBS4):c.469C>G (p.Gln157Glu) rs1177848403
NM_033028.5(BBS4):c.502G>A (p.Asp168Asn)
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter) rs367882912
NM_033028.5(BBS4):c.514A>G (p.Ile172Val) rs145265395
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys)
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu) rs372822977
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter) rs1060503692
NM_033028.5(BBS4):c.63C>T (p.Pro21=) rs267604309
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp) rs727503820
NM_033028.5(BBS4):c.712-1G>A rs377031435
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg) rs34620165
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly) rs148843256
NM_033028.5(BBS4):c.77-6G>A rs8033604
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)
NM_033028.5(BBS4):c.830G>T (p.Gly277Val) rs749017489
NM_033028.5(BBS4):c.861G>T (p.Val287=) rs1595947650
NM_033028.5(BBS4):c.864G>A (p.Ala288=) rs141345544
NM_033028.5(BBS4):c.906= (p.Phe302=) rs12914333
NM_033028.5(BBS4):c.906T>C (p.Phe302=) rs12914333
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)
NM_033028.5(BBS4):c.926A>C (p.Asn309Thr)
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152
NM_033028.5(BBS4):c.994A>G (p.Asn332Asp)
NM_144596.3(TTC8):c.1049+2_1049+4del rs587777807
NM_144596.4(TTC8):c.1050G>T (p.Arg350Ser)
NM_144596.4(TTC8):c.1063A>T (p.Met355Leu)
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551
NM_144596.4(TTC8):c.1118C>A (p.Ala373Asp)
NM_144596.4(TTC8):c.1124A>C (p.Gln375Pro) rs774216735
NM_144596.4(TTC8):c.113A>G (p.Gln38Arg)
NM_144596.4(TTC8):c.114+6G>C
NM_144596.4(TTC8):c.1147T>C (p.Phe383Leu)
NM_144596.4(TTC8):c.1215T>G (p.His405Gln)
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr)
NM_144596.4(TTC8):c.1276AAC[5] (p.Asn429dup)
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys)
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625
NM_144596.4(TTC8):c.1363C>G (p.Gln455Glu)
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) rs376411291
NM_144596.4(TTC8):c.1432A>T (p.Ile478Phe)
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478
NM_144596.4(TTC8):c.293G>A (p.Gly98Glu)
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser) rs139392523
NM_144596.4(TTC8):c.355A>G (p.Ile119Val)
NM_144596.4(TTC8):c.357T>C (p.Ile119=) rs567203939
NM_144596.4(TTC8):c.361G>A (p.Gly121Ser) rs771327965
NM_144596.4(TTC8):c.380C>A (p.Thr127Lys)
NM_144596.4(TTC8):c.386G>A (p.Ser129Asn)
NM_144596.4(TTC8):c.415A>G (p.Ile139Val)
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) rs540856754
NM_144596.4(TTC8):c.470G>C (p.Arg157Thr) rs754686957
NM_144596.4(TTC8):c.484G>C (p.Gly162Arg) rs753150258
NM_144596.4(TTC8):c.488C>T (p.Thr163Met)
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286
NM_144596.4(TTC8):c.490G>A (p.Ala164Thr) rs184952059
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)
NM_144596.4(TTC8):c.528T>C (p.Asn176=) rs1555391010
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys)
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350
NM_144596.4(TTC8):c.715G>C (p.Gly239Arg)
NM_144596.4(TTC8):c.727G>A (p.Glu243Lys) rs1419727328
NM_144596.4(TTC8):c.83C>A (p.Thr28Lys)
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe)
NM_144596.4(TTC8):c.874G>A (p.Val292Ile)
NM_144596.4(TTC8):c.909G>C (p.Glu303Asp)
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr)
NM_152384.3(BBS5):c.108C>T (p.Ser36=) rs16823066
NM_152384.3(BBS5):c.143-1G>A
NM_152384.3(BBS5):c.143-1G>C rs1054138918
NM_152384.3(BBS5):c.18G>C (p.Ala6=) rs202051938
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser) rs754978707
NM_152384.3(BBS5):c.208+5G>T
NM_152384.3(BBS5):c.25G>C (p.Glu9Gln)
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) rs772757329
NM_152384.3(BBS5):c.285C>T (p.Leu95=) rs6752540
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln)
NM_152384.3(BBS5):c.365C>T (p.Thr122Ile)
NM_152384.3(BBS5):c.39C>G (p.Val13=) rs10188609
NM_152384.3(BBS5):c.462G>C (p.Leu154=) rs767240340
NM_152384.3(BBS5):c.468A>G (p.Pro156=) rs200636409
NM_152384.3(BBS5):c.475C>T (p.His159Tyr)
NM_152384.3(BBS5):c.501T>A (p.Val167=) rs75690869
NM_152384.3(BBS5):c.516T>C (p.Ser172=) rs758562179
NM_152384.3(BBS5):c.542T>C (p.Phe181Ser) rs758508869
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)
NM_152384.3(BBS5):c.60-3T>C rs201553380
NM_152384.3(BBS5):c.619-1G>C rs753234582
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251
NM_152384.3(BBS5):c.689G>A (p.Gly230Glu)
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298
NM_152384.3(BBS5):c.808G>A (p.Glu270Lys)
NM_152384.3(BBS5):c.814A>G (p.Lys272Glu)
NM_152384.3(BBS5):c.817-10T>A
NM_152384.3(BBS5):c.817-1G>A rs1466289570
NM_152384.3(BBS5):c.817-5T>G rs780213701
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys)
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr)
NM_152384.3(BBS5):c.935G>A (p.Arg312His)
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
NM_152618.3(BBS12):c.1011T>C (p.Val337=) rs762298486
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546
NM_152618.3(BBS12):c.105A>T (p.Ser35=) rs35159397
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.3(BBS12):c.1185G>A (p.Leu395=) rs377611257
NM_152618.3(BBS12):c.1197C>T (p.His399=) rs764483162
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg)
NM_152618.3(BBS12):c.1207G>A (p.Val403Met) rs78000298
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092
NM_152618.3(BBS12):c.1225G>A (p.Val409Met) rs1578491070
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849
NM_152618.3(BBS12):c.1262G>A (p.Arg421His)
NM_152618.3(BBS12):c.1267del (p.Ile423fs) rs1578491135
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271
NM_152618.3(BBS12):c.1287T>C (p.Ser429=) rs17006094
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln)
NM_152618.3(BBS12):c.1297G>A (p.Val433Ile)
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs) rs1553941433
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg)
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_152618.3(BBS12):c.1382A>G (p.Asn461Ser)
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.3(BBS12):c.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg)
NM_152618.3(BBS12):c.1407C>G (p.Val469=)
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) rs772894742
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813
NM_152618.3(BBS12):c.1506C>T (p.Ala502=) rs144855583
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu) rs374865012
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.3(BBS12):c.1577dup (p.Leu526fs)
NM_152618.3(BBS12):c.1590A>G (p.Leu530=) rs886059059
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys)
NM_152618.3(BBS12):c.1653T>G (p.His551Gln)
NM_152618.3(BBS12):c.1660G>T (p.Ala554Ser)
NM_152618.3(BBS12):c.1844C>A (p.Ala615Asp)
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_152618.3(BBS12):c.1891_1892TC[1] (p.Pro632fs)
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr)
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser)
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546
NM_152618.3(BBS12):c.1980G>A (p.Pro660=) rs778953866
NM_152618.3(BBS12):c.19G>A (p.Val7Ile)
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu)
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089
NM_152618.3(BBS12):c.2037A>T (p.Leu679Phe) rs1553941612
NM_152618.3(BBS12):c.2056_2059ACAG[1] (p.Asp687fs) rs746478265
NM_152618.3(BBS12):c.2062A>G (p.Ser688Gly)
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)
NM_152618.3(BBS12):c.2117G>C (p.Gly706Ala)
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329
NM_152618.3(BBS12):c.21C>T (p.Val7=) rs754702110
NM_152618.3(BBS12):c.237C>T (p.Asn79=) rs373273487
NM_152618.3(BBS12):c.243T>C (p.Tyr81=) rs772942987
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.274G>A (p.Val92Ile)
NM_152618.3(BBS12):c.344T>C (p.Val115Ala)
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369
NM_152618.3(BBS12):c.422dup (p.Met141fs)
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.433A>G (p.Lys145Glu)
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg)
NM_152618.3(BBS12):c.60A>G (p.Ser20=) rs759975718
NM_152618.3(BBS12):c.63A>T (p.Ser21=) rs776279953
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly) rs1060501473
NM_152618.3(BBS12):c.66C>T (p.Phe22=) rs150546366
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr)
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200
NM_152618.3(BBS12):c.68C>T (p.Ala23Val)
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala)
NM_152618.3(BBS12):c.75A>G (p.Thr25=) rs754811440
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly)
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp)
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328
NM_152618.3(BBS12):c.882T>C (p.Tyr294=) rs766149148
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter)
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.908A>G (p.Asn303Ser)
NM_152618.3(BBS12):c.925_926del (p.Met309fs)
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)
NM_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198
NM_152618.3(BBS12):c.978_979inv (p.Ser327Thr)
NM_176824.3(BBS7):c.1024A>G (p.Ile342Val)
NM_176824.3(BBS7):c.1036C>T (p.Arg346Trp)
NM_176824.3(BBS7):c.1038G>A (p.Arg346=)
NM_176824.3(BBS7):c.1060_1061TA[1] (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1142T>C (p.Ile381Thr)
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.1184G>A (p.Ser395Asn)
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)
NM_176824.3(BBS7):c.1289G>A (p.Ser430Asn)
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)
NM_176824.3(BBS7):c.1410A>G (p.Ala470=)
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter) rs991365297
NM_176824.3(BBS7):c.1421C>G (p.Pro474Arg)
NM_176824.3(BBS7):c.1487G>A (p.Arg496Lys)
NM_176824.3(BBS7):c.148A>G (p.Lys50Glu)
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr)
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly)
NM_176824.3(BBS7):c.1592T>C (p.Val531Ala)
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362
NM_176824.3(BBS7):c.1604C>T (p.Pro535Leu)
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter)
NM_176824.3(BBS7):c.1691T>C (p.Val564Ala)
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608
NM_176824.3(BBS7):c.1786+1G>T rs1560638613
NM_176824.3(BBS7):c.1806C>G (p.Val602=) rs752970955
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418
NM_176824.3(BBS7):c.1890+6T>C rs1553930514
NM_176824.3(BBS7):c.192G>A (p.Pro64=) rs775906320
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs) rs863224529
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu)
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr)
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021
NM_176824.3(BBS7):c.223A>G (p.Ile75Val) rs138872188
NM_176824.3(BBS7):c.257C>T (p.Ala86Val)
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly)
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193
NM_176824.3(BBS7):c.340A>C (p.Met114Leu)
NM_176824.3(BBS7):c.342-3C>G rs1244071022
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.454T>C (p.Cys152Arg) rs863224814
NM_176824.3(BBS7):c.479G>A (p.Arg160His)
NM_176824.3(BBS7):c.508A>G (p.Arg170Gly)
NM_176824.3(BBS7):c.529-1dup
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs) rs1553933472
NM_176824.3(BBS7):c.578T>C (p.Leu193Ser)
NM_176824.3(BBS7):c.601+3A>G
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002
NM_176824.3(BBS7):c.683G>A (p.Arg228His) rs369866009
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)
NM_176824.3(BBS7):c.710_711AG[1] (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.748G>T (p.Val250Leu)
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr)
NM_176824.3(BBS7):c.785A>G (p.Asp262Gly)
NM_176824.3(BBS7):c.794T>C (p.Met265Thr)
NM_176824.3(BBS7):c.821C>T (p.Ala274Val)
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)
NM_176824.3(BBS7):c.852G>A (p.Met284Ile)
NM_176824.3(BBS7):c.85_86CA[1] (p.His29fs) rs1578577361
NM_176824.3(BBS7):c.863G>A (p.Ser288Asn)
NM_176824.3(BBS7):c.964A>G (p.Ile322Val)
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001
NM_176824.3(BBS7):c.976A>G (p.Ser326Gly) rs863224815
NM_198309.3(TTC8):c.595-5C>T rs137853922
NM_198428.2(BBS9):c.(?_-1)_328+?del
NM_198428.3(BBS9):c.1017-6T>C rs61756571
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153
NM_198428.3(BBS9):c.1103C>T (p.Ala368Val)
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524
NM_198428.3(BBS9):c.1112T>C (p.Val371Ala)
NM_198428.3(BBS9):c.1147G>A (p.Val383Ile)
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp)
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.3(BBS9):c.1249G>C (p.Val417Leu)
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe)
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382
NM_198428.3(BBS9):c.1293G>C (p.Glu431Asp)
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) rs762511626
NM_198428.3(BBS9):c.138G>A (p.Met46Ile) rs145241295
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1432+7T>G rs150963080
NM_198428.3(BBS9):c.145C>G (p.Leu49Val)
NM_198428.3(BBS9):c.1468T>C (p.Tyr490His) rs760084192
NM_198428.3(BBS9):c.1480A>T (p.Ser494Cys)
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala) rs369146555
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile) rs139303948
NM_198428.3(BBS9):c.1538-7T>G rs375661214
NM_198428.3(BBS9):c.1538-9G>T rs770317221
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160
NM_198428.3(BBS9):c.1552+2T>A rs1563049863
NM_198428.3(BBS9):c.1558C>T (p.Pro520Ser)
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu) rs769669385
NM_198428.3(BBS9):c.155T>G (p.Phe52Cys)
NM_198428.3(BBS9):c.1560G>A (p.Pro520=) rs779586578
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557
NM_198428.3(BBS9):c.1562G>C (p.Arg521Pro)
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.1670T>G (p.Val557Gly)
NM_198428.3(BBS9):c.1694-6T>C rs28622379
NM_198428.3(BBS9):c.1741C>T (p.His581Tyr)
NM_198428.3(BBS9):c.174A>G (p.Lys58=)
NM_198428.3(BBS9):c.1767T>C (p.Thr589=) rs534722075
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile) rs143016114
NM_198428.3(BBS9):c.1789+1G>T rs201938124
NM_198428.3(BBS9):c.1799G>A (p.Arg600His)
NM_198428.3(BBS9):c.1808G>C (p.Ser603Thr)
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1836A>G (p.Ile612Met)
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.1911G>A (p.Ser637=) rs138454676
NM_198428.3(BBS9):c.1918A>G (p.Ile640Val) rs144112103
NM_198428.3(BBS9):c.1928A>G (p.Gln643Arg)
NM_198428.3(BBS9):c.1949A>G (p.Asp650Gly) rs201876934
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.1962+3A>T
NM_198428.3(BBS9):c.1963-6T>C
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys)
NM_198428.3(BBS9):c.2035C>T (p.Arg679Trp)
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061
NM_198428.3(BBS9):c.2088C>A (p.Asp696Glu)
NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn)
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu)
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446
NM_198428.3(BBS9):c.2214C>T (p.Ile738=) rs148536971
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567
NM_198428.3(BBS9):c.2245G>C (p.Val749Leu) rs1563271285
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068
NM_198428.3(BBS9):c.2294A>G (p.Glu765Gly) rs140882212
NM_198428.3(BBS9):c.2298+5G>A
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719
NM_198428.3(BBS9):c.2322C>T (p.Ala774=) rs145435891
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln) rs142434516
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu)
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser)
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met) rs137993290
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe)
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811
NM_198428.3(BBS9):c.2468G>A (p.Gly823Asp)
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708
NM_198428.3(BBS9):c.2581A>T (p.Thr861Ser)
NM_198428.3(BBS9):c.2591T>G (p.Phe864Cys)
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser)
NM_198428.3(BBS9):c.263+1G>A rs137962929
NM_198428.3(BBS9):c.2632+9C>A rs148654647
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter) rs150826095
NM_198428.3(BBS9):c.2633-2A>G
NM_198428.3(BBS9):c.2633-3C>G
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527
NM_198428.3(BBS9):c.2653G>T (p.Val885Phe)
NM_198428.3(BBS9):c.2654T>C (p.Val885Ala)
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.341A>G (p.Asn114Ser)
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245
NM_198428.3(BBS9):c.396G>C (p.Gln132His)
NM_198428.3(BBS9):c.410A>G (p.Asn137Ser)
NM_198428.3(BBS9):c.485T>C (p.Met162Thr)
NM_198428.3(BBS9):c.531C>A (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033
NM_198428.3(BBS9):c.565C>T (p.Arg189Cys)
NM_198428.3(BBS9):c.58T>G (p.Phe20Val) rs779638896
NM_198428.3(BBS9):c.621C>T (p.Tyr207=) rs140169161
NM_198428.3(BBS9):c.660_674del (p.Glu221_Gln225del)
NM_198428.3(BBS9):c.666T>A (p.Thr222=) rs145385875
NM_198428.3(BBS9):c.677A>C (p.Lys226Thr)
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133
NM_198428.3(BBS9):c.688G>A (p.Gly230Arg)
NM_198428.3(BBS9):c.742A>C (p.Ile248Leu)
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser)
NM_198428.3(BBS9):c.767C>T (p.Ser256Leu) rs149790873
NM_198428.3(BBS9):c.778G>T (p.Val260Phe)
NM_198428.3(BBS9):c.802T>A (p.Phe268Ile)
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly) rs1264926096
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
NM_198428.3(BBS9):c.83C>T (p.Ala28Val)
NM_198428.3(BBS9):c.887-7C>T rs376333670
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp)
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg)
Single allele

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