NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
NM_170784.3(MKKS):c.250C>T (p.His84Tyr)
|
rs281797258
|
0.00025
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)
|
rs758217005
|
0.00012
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
NM_176824.3(BBS7):c.968A>G (p.His323Arg)
|
rs119466001
|
0.00010
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
|
rs772544112
|
0.00006
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp)
|
rs751375244
|
0.00006
|
NM_015910.7(WDPCP):c.209-1G>A
|
rs767481770
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_033028.5(BBS4):c.1440dup (p.Leu481fs)
|
rs780269741
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_025103.4(IFT74):c.1685-1G>T
|
rs200699377
|
0.00005
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
0.00005
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)
|
rs766873519
|
0.00004
|
NM_031885.5(BBS2):c.534+1G>T
|
rs773862084
|
0.00004
|
NM_152384.3(BBS5):c.143-1G>C
|
rs1054138918
|
0.00004
|
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)
|
rs750366365
|
0.00004
|
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)
|
rs1450190654
|
0.00004
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
|
rs754579374
|
0.00004
|
NM_006642.5(SDCCAG8):c.1985+1G>T
|
rs752046196
|
0.00003
|
NM_006642.5(SDCCAG8):c.220+2T>C
|
rs757796329
|
0.00003
|
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met)
|
rs753866301
|
0.00003
|
NM_015662.3(IFT172):c.986C>T (p.Thr329Met)
|
rs568736482
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)
|
rs200116631
|
0.00003
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_024649.5(BBS1):c.724-1G>C
|
rs748523268
|
0.00003
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)
|
rs376306240
|
0.00003
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)
|
rs121908178
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_170784.3(MKKS):c.749G>A (p.Gly250Glu)
|
rs972466774
|
0.00003
|
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln)
|
rs370716101
|
0.00003
|
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu)
|
rs1221499782
|
0.00003
|
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
|
rs773052355
|
0.00003
|
NM_006642.5(SDCCAG8):c.1745-2A>G
|
rs1442457872
|
0.00002
|
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)
|
rs121434447
|
0.00002
|
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)
|
rs572052810
|
0.00002
|
NM_015662.3(IFT172):c.402+2T>G
|
rs774548930
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)
|
rs386834053
|
0.00002
|
NM_024649.5(BBS1):c.1110+329C>T
|
rs571170303
|
0.00002
|
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)
|
rs183771956
|
0.00002
|
NM_024649.5(BBS1):c.479+2T>G
|
rs1353098253
|
0.00002
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
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.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs)
|
rs767231715
|
0.00002
|
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)
|
rs775189201
|
0.00002
|
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)
|
rs886043059
|
0.00002
|
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)
|
rs762047808
|
0.00002
|
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)
|
rs914062190
|
0.00002
|
NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile)
|
rs1354476372
|
0.00001
|
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)
|
rs137854907
|
0.00001
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
NM_006642.5(SDCCAG8):c.1942C>T (p.Gln648Ter)
|
rs367572249
|
0.00001
|
NM_006642.5(SDCCAG8):c.307-1G>A
|
rs1460888769
|
0.00001
|
NM_006642.5(SDCCAG8):c.546+1G>A
|
rs756907665
|
0.00001
|
NM_006642.5(SDCCAG8):c.675+1G>A
|
rs1022080658
|
0.00001
|
NM_015662.3(IFT172):c.1525-1G>A
|
rs370540673
|
0.00001
|
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)
|
rs761095604
|
0.00001
|
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)
|
rs999731005
|
0.00001
|
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)
|
rs150246251
|
0.00001
|
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)
|
rs587777079
|
0.00001
|
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)
|
rs760971749
|
0.00001
|
NM_017777.4(MKS1):c.1095+1G>A
|
rs747740477
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_017777.4(MKS1):c.1497del (p.Phe499fs)
|
rs780161503
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_024649.5(BBS1):c.1111-2A>G
|
rs761969357
|
0.00001
|
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)
|
rs878855095
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_024649.5(BBS1):c.48-2A>C
|
rs764245266
|
0.00001
|
NM_024649.5(BBS1):c.518+1G>A
|
rs771517209
|
0.00001
|
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)
|
rs761760689
|
0.00001
|
NM_024649.5(BBS1):c.723+1G>C
|
rs1295318869
|
0.00001
|
NM_024649.5(BBS1):c.830+2T>C
|
rs1856209722
|
0.00001
|
NM_024649.5(BBS1):c.952-1G>A
|
rs1057516661
|
0.00001
|
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.1804G>C (p.Val602Leu)
|
rs778431173
|
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_025114.4(CEP290):c.1190-2A>G
|
rs200818935
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.181-2A>G
|
rs886042359
|
0.00001
|
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
|
rs762633090
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)
|
rs752144368
|
0.00001
|
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)
|
rs1267970567
|
0.00001
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
NM_025114.4(CEP290):c.3309+2T>C
|
rs1007902545
|
0.00001
|
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)
|
rs746305733
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)
|
rs1375836634
|
0.00001
|
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)
|
rs1374014119
|
0.00001
|
NM_031885.5(BBS2):c.1080+2T>C
|
rs771554923
|
0.00001
|
NM_031885.5(BBS2):c.1112del (p.Asp371fs)
|
rs1472488128
|
0.00001
|
NM_031885.5(BBS2):c.117+1G>A
|
rs1964866367
|
0.00001
|
NM_031885.5(BBS2):c.1398-2A>G
|
rs767609303
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)
|
rs201063733
|
0.00001
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs)
|
rs745951028
|
0.00001
|
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)
|
rs1597001788
|
0.00001
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)
|
rs750506474
|
0.00001
|
NM_031885.5(BBS2):c.345+5G>A
|
rs1430976492
|
0.00001
|
NM_031885.5(BBS2):c.471G>A (p.Thr157=)
|
rs749983428
|
0.00001
|
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)
|
rs767373822
|
0.00001
|
NM_031885.5(BBS2):c.563del (p.Ile188fs)
|
rs1367927635
|
0.00001
|
NM_031885.5(BBS2):c.612+1G>T
|
rs1964531402
|
0.00001
|
NM_031885.5(BBS2):c.717+1G>A
|
rs1047075022
|
0.00001
|
NM_031885.5(BBS2):c.940+1del
|
rs746171104
|
0.00001
|
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)
|
rs797045155
|
0.00001
|
NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs)
|
rs2065896039
|
0.00001
|
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)
|
rs28938468
|
0.00001
|
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)
|
rs772548770
|
0.00001
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
NM_144596.4(TTC8):c.265+1G>A
|
rs139234943
|
0.00001
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)
|
rs121908581
|
0.00001
|
NM_152384.3(BBS5):c.413G>A (p.Arg138His)
|
rs179363897
|
0.00001
|
NM_152384.3(BBS5):c.817-1G>T
|
rs1466289570
|
0.00001
|
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)
|
rs1381368546
|
0.00001
|
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)
|
rs771456483
|
0.00001
|
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)
|
rs1269565757
|
0.00001
|
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
|
rs1357690062
|
0.00001
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
0.00001
|
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter)
|
rs1284876635
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)
|
rs1194574169
|
0.00001
|
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)
|
rs745448288
|
0.00001
|
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)
|
rs565073445
|
0.00001
|
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)
|
rs770872200
|
0.00001
|
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)
|
rs121918328
|
0.00001
|
NM_153704.6(TMEM67):c.1353del (p.Glu452fs)
|
rs749435317
|
0.00001
|
NM_153704.6(TMEM67):c.769A>G (p.Met257Val)
|
rs863225227
|
0.00001
|
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)
|
rs769957689
|
0.00001
|
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu)
|
rs779116830
|
0.00001
|
NM_170784.3(MKKS):c.1175C>T (p.Thr392Met)
|
rs201183584
|
0.00001
|
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter)
|
rs753338844
|
0.00001
|
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)
|
rs74315399
|
0.00001
|
NM_170784.3(MKKS):c.251_252del (p.His84fs)
|
rs756259125
|
0.00001
|
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter)
|
rs758356262
|
0.00001
|
NM_170784.3(MKKS):c.380del (p.Cys127fs)
|
rs867346158
|
0.00001
|
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)
|
rs768929313
|
0.00001
|
NM_170784.3(MKKS):c.837del (p.Gly280fs)
|
rs776004321
|
0.00001
|
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)
|
rs1470030897
|
0.00001
|
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys)
|
rs1233058112
|
0.00001
|
NM_176824.3(BBS7):c.198T>G (p.Ile66Met)
|
rs367765050
|
0.00001
|
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)
|
rs761403504
|
0.00001
|
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)
|
rs727503821
|
0.00001
|
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)
|
rs151275562
|
0.00001
|
NM_176824.3(BBS7):c.849+1G>C
|
rs763719688
|
0.00001
|
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)
|
rs889417696
|
0.00001
|
NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter)
|
rs751922029
|
0.00001
|
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter)
|
rs762511626
|
0.00001
|
NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr)
|
rs1326810030
|
0.00001
|
NM_198428.3(BBS9):c.214del (p.Val72fs)
|
rs1384578916
|
0.00001
|
NM_198428.3(BBS9):c.442+1G>C
|
rs587777811
|
0.00001
|
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
|
|
|
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
|
|
|
GRCh38/hg38 11q13.2(chr11:66507369-66525103)
|
|
|
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
|
|
|
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
|
|
|
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
|
|
|
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
|
|
|
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
|
|
|
GRCh38/hg38 16q13(chr16:56496014-56504285)
|
|
|
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
|
|
|
GRCh38/hg38 3q11.2(chr3:97779512-97864516)
|
|
|
GRCh38/hg38 3q11.2(chr3:97790061-97794169)
|
|
|
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
|
|
|
NC_000001.10:g.(243507634_243542022)_(243542166_243579003)del
|
|
|
NC_000001.10:g.(243542166_243579003)_(243579132_243581269)del
|
|
|
NC_000001.10:g.(?_243652316)_(243652442_?)dup
|
|
|
NC_000001.10:g.[5910699_6038368dup;6051187_6158763dup]
|
|
|
NC_000002.11:g.(?_63380029)_(63380729_?)dup
|
|
|
NC_000003.11:g.(97483822_97485475)_(97487075_97499002)del
|
|
|
NC_000003.11:g.(97487075_97499002)_(97499065_97499458)dup
|
|
|
NC_000007.13:g.(33376235_33380508)_(33380586_33384192)del
|
|
|
NC_000007.13:g.(33427757_33545074)_(33573789_33644476)del
|
|
|
NC_000007.13:g.(?_33192293)_(33192483_?)dup
|
|
|
NC_000007.13:g.(?_33195240)_(33195324_?)dup
|
|
|
NC_000007.13:g.(?_33312604)_(33313588_?)dup
|
|
|
NC_000011.9:g.(?_66281867)_(66288857_?)dup
|
|
|
NC_000011.9:g.(?_66290917)_(66294288_?)dup
|
|
|
NC_000015.9:g.(?_73004565)_(73009211_?)del
|
|
|
NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys)
|
rs778777181
|
|
NM_001177701.3(IFT27):c.197C>A (p.Ala66Asp)
|
rs765920708
|
|
NM_001278293.3(ARL6):c.123+1G>A
|
|
|
NM_001278293.3(ARL6):c.254+1G>A
|
|
|
NM_001278293.3(ARL6):c.255-1_256del
|
|
|
NM_001278293.3(ARL6):c.350-13_350-2del
|
rs1576465252
|
|
NM_001278293.3(ARL6):c.350-2A>C
|
|
|
NM_001278293.3(ARL6):c.479+1G>A
|
rs1324418374
|
|
NM_001378454.1(ALMS1):c.4375C>T (p.Pro1459Ser)
|
|
|
NM_001378454.1(ALMS1):c.7580dup (p.Tyr2527Ter)
|
rs1672034468
|
|
NM_006642.3:c.1069_1356del
|
|
|
NM_006642.5(SDCCAG8):c.1068+1G>A
|
|
|
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)
|
rs770084716
|
|
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)
|
rs964673995
|
|
NM_006642.5(SDCCAG8):c.1356+1G>C
|
rs2147782314
|
|
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)
|
rs397515335
|
|
NM_006642.5(SDCCAG8):c.1617-1G>A
|
|
|
NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)
|
|
|
NM_006642.5(SDCCAG8):c.1853+1G>A
|
rs1573930690
|
|
NM_006642.5(SDCCAG8):c.1853+2T>A
|
|
|
NM_006642.5(SDCCAG8):c.1853+2T>C
|
|
|
NM_006642.5(SDCCAG8):c.221-1G>A
|
rs2068036602
|
|
NM_006642.5(SDCCAG8):c.420+1G>C
|
|
|
NM_006642.5(SDCCAG8):c.547-1G>A
|
rs2070433656
|
|
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)
|
rs797045948
|
|
NM_006642.5(SDCCAG8):c.865_872dup (p.Val292fs)
|
|
|
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs)
|
rs1564217246
|
|
NM_012210.4(TRIM32):c.1560del (p.Cys521fs)
|
rs1588218453
|
|
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)
|
rs749696299
|
|
NM_012210.4(TRIM32):c.722A>G (p.Tyr241Cys)
|
|
|
NM_012210.4(TRIM32):c.865_866insG (p.Leu289fs)
|
|
|
NM_015272.5(RPGRIP1L):c.46G>A (p.Asp16Asn)
|
|
|
NM_015662.3(IFT172):c.296G>A (p.Trp99Ter)
|
rs1668654133
|
|
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)
|
rs543062539
|
|
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)
|
rs1329856696
|
|
NM_015910.7(WDPCP):c.1436-1G>C
|
rs959923850
|
|
NM_015910.7(WDPCP):c.161-1G>C
|
|
|
NM_015910.7(WDPCP):c.1813-2A>T
|
rs2104772718
|
|
NM_015910.7(WDPCP):c.1915+2del
|
|
|
NM_015910.7(WDPCP):c.1916-2A>G
|
rs763299856
|
|
NM_015910.7(WDPCP):c.253+1G>A
|
|
|
NM_015910.7(WDPCP):c.253+2T>C
|
rs1700584499
|
|
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)
|
rs2105500878
|
|
NM_015910.7(WDPCP):c.633+2T>C
|
rs765356177
|
|
NM_015910.7(WDPCP):c.75+1G>T
|
rs1486299333
|
|
NM_015910.7(WDPCP):c.825+1G>A
|
|
|
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
|
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
|
|
|
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)
|
|
|
NM_017777.4(MKS1):c.1071del (p.Cys358fs)
|
rs762377424
|
|
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
|
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1165+2T>C
|
|
|
NM_017777.4(MKS1):c.1166-2A>G
|
rs1488635637
|
|
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)
|
|
|
NM_017777.4(MKS1):c.1203_1209delinsTCTCT (p.Leu404fs)
|
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_017777.4(MKS1):c.1274-2A>C
|
|
|
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
|
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1408-1dup
|
rs762668200
|
|
NM_017777.4(MKS1):c.1408-2A>G
|
rs1555596943
|
|
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
|
|
|
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)
|
rs1555596845
|
|
NM_017777.4(MKS1):c.1447_1490+22del
|
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_017777.4(MKS1):c.1490+1G>A
|
rs2143737350
|
|
NM_017777.4(MKS1):c.1501G>T (p.Glu501Ter)
|
|
|
NM_017777.4(MKS1):c.171del (p.Phe57fs)
|
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.190+1G>A
|
|
|
NM_017777.4(MKS1):c.1A>G (p.Met1Val)
|
rs1555601787
|
|
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
|
|
|
NM_017777.4(MKS1):c.259C>T (p.Gln87Ter)
|
|
|
NM_017777.4(MKS1):c.367dup (p.Arg123fs)
|
rs775043799
|
|
NM_017777.4(MKS1):c.435del (p.Thr146fs)
|
|
|
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter)
|
rs903778224
|
|
NM_017777.4(MKS1):c.515+2T>G
|
rs1376664664
|
|
NM_017777.4(MKS1):c.516-2A>G
|
rs2143805609
|
|
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
|
|
|
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
|
|
|
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)
|
rs2143800757
|
|
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
|
|
|
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
|
|
|
NM_017777.4(MKS1):c.766del (p.Glu256fs)
|
|
|
NM_017777.4(MKS1):c.766dup (p.Glu256fs)
|
|
|
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
|
|
|
NM_017777.4(MKS1):c.80+2T>C
|
rs386834052
|
|
NM_017777.4(MKS1):c.805dup (p.Ser269fs)
|
rs1320893771
|
|
NM_017777.4(MKS1):c.81_82del
|
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
|
|
|
NM_017777.4(MKS1):c.858+1G>A
|
rs756102768
|
|
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
|
|
|
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
|
|
|
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
|
|
|
NM_017777.4(MKS1):c.[1115_1117del;1476T>G]
|
|
|
NM_020347.4(LZTFL1):c.457-1G>T
|
rs2125680264
|
|
NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter)
|
rs1856358703
|
|
NM_024649.5(BBS1):c.1009del (p.Glu337fs)
|
|
|
NM_024649.5(BBS1):c.1021delinsGG (p.Arg341fs)
|
|
|
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)
|
rs1057516533
|
|
NM_024649.5(BBS1):c.1076G>C (p.Arg359Pro)
|
|
|
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
|
|
|
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn)
|
rs1565286202
|
|
NM_024649.5(BBS1):c.1110+1G>C
|
rs2134797993
|
|
NM_024649.5(BBS1):c.1110+2T>C
|
|
|
NM_024649.5(BBS1):c.1110+2T>G
|
rs1565286223
|
|
NM_024649.5(BBS1):c.1110+3G>C
|
rs762276925
|
|
NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg)
|
|
|
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)
|
rs786204701
|
|
NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter)
|
rs1021331909
|
|
NM_024649.5(BBS1):c.1180+1G>T
|
|
|
NM_024649.5(BBS1):c.1181-1G>C
|
|
|
NM_024649.5(BBS1):c.1181_1191del
|
|
|
NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter)
|
rs1421044140
|
|
NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs)
|
|
|
NM_024649.5(BBS1):c.124+1G>C
|
rs1057516449
|
|
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)
|
rs1060503690
|
|
NM_024649.5(BBS1):c.1253del (p.Pro418fs)
|
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.130del (p.Ala44fs)
|
rs2134765690
|
|
NM_024649.5(BBS1):c.1339+1G>A
|
|
|
NM_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
NM_024649.5(BBS1):c.1340-2A>G
|
rs113994180
|
|
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs)
|
rs1555049933
|
|
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer)
|
rs1057516901
|
|
NM_024649.5(BBS1):c.1474-1G>A
|
rs2134836650
|
|
NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter)
|
|
|
NM_024649.5(BBS1):c.1564del (p.Leu522fs)
|
rs2134837160
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
NM_024649.5(BBS1):c.1585dup (p.Ser529fs)
|
rs1555050268
|
|
NM_024649.5(BBS1):c.158dup (p.Leu54fs)
|
rs1313590454
|
|
NM_024649.5(BBS1):c.159+1G>A
|
|
|
NM_024649.5(BBS1):c.159+2T>A
|
rs1057516507
|
|
NM_024649.5(BBS1):c.159+2del
|
rs1348187150
|
|
NM_024649.5(BBS1):c.160-1G>A
|
|
|
NM_024649.5(BBS1):c.1608+1G>A
|
rs1856758582
|
|
NM_024649.5(BBS1):c.1609-2A>T
|
rs1555050394
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter)
|
rs1856790811
|
|
NM_024649.5(BBS1):c.1695G>A (p.Lys565=)
|
rs1555050427
|
|
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)
|
rs1434577015
|
|
NM_024649.5(BBS1):c.17dup (p.Ser7fs)
|
rs1166022838
|
|
NM_024649.5(BBS1):c.182del (p.Pro61fs)
|
rs1057517007
|
|
NM_024649.5(BBS1):c.1A>C (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.214A>T (p.Lys72Ter)
|
rs1856007963
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024649.5(BBS1):c.319dup (p.Ala107fs)
|
rs1856010064
|
|
NM_024649.5(BBS1):c.345dup (p.Lys116Ter)
|
rs1555046611
|
|
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter)
|
rs1856011738
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024649.5(BBS1):c.433-2A>G
|
rs1555046748
|
|
NM_024649.5(BBS1):c.434dup (p.Asp145fs)
|
|
|
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)
|
rs772917364
|
|
NM_024649.5(BBS1):c.46dup (p.Ser16fs)
|
|
|
NM_024649.5(BBS1):c.47+2T>C
|
rs1182864166
|
|
NM_024649.5(BBS1):c.47+2T>G
|
|
|
NM_024649.5(BBS1):c.48-1G>T
|
rs751753112
|
|
NM_024649.5(BBS1):c.480-1G>C
|
rs1057516933
|
|
NM_024649.5(BBS1):c.480-2A>C
|
rs1856035426
|
|
NM_024649.5(BBS1):c.519-2A>G
|
rs1057516502
|
|
NM_024649.5(BBS1):c.579dup (p.Ile194fs)
|
|
|
NM_024649.5(BBS1):c.591+1G>A
|
|
|
NM_024649.5(BBS1):c.700G>T (p.Glu234Ter)
|
rs35520756
|
|
NM_024649.5(BBS1):c.70_73del (p.Leu24fs)
|
|
|
NM_024649.5(BBS1):c.71T>A (p.Leu24Ter)
|
rs1855932058
|
|
NM_024649.5(BBS1):c.723+1G>A
|
|
|
NM_024649.5(BBS1):c.723+2T>C
|
|
|
NM_024649.5(BBS1):c.723+2T>G
|
|
|
NM_024649.5(BBS1):c.734_735del (p.Pro245fs)
|
|
|
NM_024649.5(BBS1):c.777del (p.Glu260fs)
|
rs1555047786
|
|
NM_024649.5(BBS1):c.786del (p.Ala264fs)
|
rs1057516330
|
|
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu)
|
rs372939761
|
|
NM_024649.5(BBS1):c.830+1G>T
|
|
|
NM_024649.5(BBS1):c.830+2T>A
|
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)
|
rs1057516427
|
|
NM_024649.5(BBS1):c.855dup (p.Ile286fs)
|
|
|
NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)
|
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+2T>G
|
|
|
NM_024649.5(BBS1):c.965G>A (p.Trp322Ter)
|
rs1856354695
|
|
NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)
|
|
|
NM_024649.5(BBS1):c.981del (p.Ala328fs)
|
rs1057516371
|
|
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.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.1189A>G (p.Ile397Val)
|
|
|
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.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.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.179T>G (p.Leu60Ter)
|
rs2136091512
|
|
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.197G>A (p.Arg66Lys)
|
|
|
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.2122_2123del (p.Lys708fs)
|
rs1951753208
|
|
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.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.27_37del (p.Ser10fs)
|
rs1278460471
|
|
NM_024685.4(BBS10):c.299_305del (p.Ile100fs)
|
rs1057516701
|
|
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)
|
rs2136091244
|
|
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.646dup (p.Asp216fs)
|
rs1555202695
|
|
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.766C>T (p.Arg256Ter)
|
rs1156913215
|
|
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.943C>T (p.Gln315Ter)
|
rs1592492255
|
|
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.968C>T (p.Ala323Val)
|
|
|
NM_024685.4(BBS10):c.992T>C (p.Val331Ala)
|
|
|
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
|
|
|
NM_025114.4(CEP290):c.102+2T>A
|
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
|
|
|
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)
|
rs2138021345
|
|
NM_025114.4(CEP290):c.1169dup (p.Asn390fs)
|
|
|
NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)
|
|
|
NM_025114.4(CEP290):c.1225del (p.Ile409fs)
|
rs1287628446
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.1258dup (p.Thr420fs)
|
rs868650061
|
|
NM_025114.4(CEP290):c.1347dup (p.Asp450fs)
|
rs774490795
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)
|
rs1437841365
|
|
NM_025114.4(CEP290):c.1397_1400del (p.Lys466fs)
|
|
|
NM_025114.4(CEP290):c.1439_1450delinsG (p.Glu480fs)
|
|
|
NM_025114.4(CEP290):c.1453dup (p.Glu485fs)
|
|
|
NM_025114.4(CEP290):c.1471_1475del (p.Leu491fs)
|
|
|
NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter)
|
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1516del (p.Arg506fs)
|
|
|
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer)
|
|
|
NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)
|
|
|
NM_025114.4(CEP290):c.1668del (p.Arg557fs)
|
rs2039204524
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.1824+1G>A
|
|
|
NM_025114.4(CEP290):c.1835_1838del (p.Leu612fs)
|
|
|
NM_025114.4(CEP290):c.1909+1G>T
|
|
|
NM_025114.4(CEP290):c.1914del (p.Glu639fs)
|
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)
|
rs1440259390
|
|
NM_025114.4(CEP290):c.2176del (p.Ala726fs)
|
|
|
NM_025114.4(CEP290):c.2217+2T>C
|
rs2038702746
|
|
NM_025114.4(CEP290):c.2217+2T>G
|
|
|
NM_025114.4(CEP290):c.2218-2A>G
|
|
|
NM_025114.4(CEP290):c.2304del (p.Gly768_Ile769insTer)
|
|
|
NM_025114.4(CEP290):c.2355dup (p.His786fs)
|
|
|
NM_025114.4(CEP290):c.2389_2390del (p.Lys797fs)
|
|
|
NM_025114.4(CEP290):c.2404_2433delinsAC (p.Glu802fs)
|
|
|
NM_025114.4(CEP290):c.2433del (p.Lys811fs)
|
rs2137663442
|
|
NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)
|
|
|
NM_025114.4(CEP290):c.2510del (p.Ser837fs)
|
|
|
NM_025114.4(CEP290):c.2586+1G>A
|
|
|
NM_025114.4(CEP290):c.2587-1G>T
|
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.2632dup (p.Ile878fs)
|
|
|
NM_025114.4(CEP290):c.2794dup (p.Ile932fs)
|
|
|
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs)
|
rs2040497202
|
|
NM_025114.4(CEP290):c.2933del (p.Asp978fs)
|
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
NM_025114.4(CEP290):c.2991+1G>A
|
|
|
NM_025114.4(CEP290):c.2992-1G>A
|
|
|
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)
|
rs2137423759
|
|
NM_025114.4(CEP290):c.3104-2A>G
|
rs773386777
|
|
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter)
|
rs1555212271
|
|
NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter)
|
|
|
NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)
|
|
|
NM_025114.4(CEP290):c.3234_3235del (p.Lys1078fs)
|
|
|
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
|
rs886042467
|
|
NM_025114.4(CEP290):c.3285del (p.Phe1095fs)
|
rs1017496924
|
|
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)
|
rs2036977719
|
|
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)
|
rs2036977924
|
|
NM_025114.4(CEP290):c.3596del (p.Leu1199fs)
|
|
|
NM_025114.4(CEP290):c.3606_3615del (p.Lys1202fs)
|
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)
|
|
|
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)
|
|
|
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs)
|
rs2137276301
|
|
NM_025114.4(CEP290):c.3750_3753delinsA (p.Tyr1250_Tyr1251delinsTer)
|
|
|
NM_025114.4(CEP290):c.3783del (p.Lys1261fs)
|
rs2036833257
|
|
NM_025114.4(CEP290):c.3799del (p.Ile1267fs)
|
|
|
NM_025114.4(CEP290):c.3825_3829del (p.Gly1276fs)
|
|
|
NM_025114.4(CEP290):c.3897_3901del (p.Lys1299fs)
|
|
|
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
|
|
|
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)
|
rs2036816455
|
|
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
|
|
|
NM_025114.4(CEP290):c.4033del (p.Ile1345fs)
|
|
|
NM_025114.4(CEP290):c.4081_4084del (p.Leu1361fs)
|
|
|
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)
|
rs797044604
|
|
NM_025114.4(CEP290):c.4348_4356delinsTC (p.Pro1450fs)
|
|
|
NM_025114.4(CEP290):c.441+1G>C
|
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
NM_025114.4(CEP290):c.4704+1G>T
|
rs1565835538
|
|
NM_025114.4(CEP290):c.476del (p.Asn159fs)
|
|
|
NM_025114.4(CEP290):c.4771del (p.Gln1591fs)
|
|
|
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
|
|
|
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
|
|
|
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)
|
|
|
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs)
|
rs2036306894
|
|
NM_025114.4(CEP290):c.5012+1G>A
|
|
|
NM_025114.4(CEP290):c.5012+2T>G
|
|
|
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
|
|
|
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs)
|
rs766259648
|
|
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs)
|
rs995093343
|
|
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
|
|
|
NM_025114.4(CEP290):c.5192dup (p.Ser1732fs)
|
|
|
NM_025114.4(CEP290):c.5223_5224del (p.Lys1742fs)
|
|
|
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs)
|
rs775969711
|
|
NM_025114.4(CEP290):c.5242del (p.Leu1748fs)
|
|
|
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)
|
rs748471942
|
|
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter)
|
rs2039993548
|
|
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
|
|
|
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs)
|
rs754728136
|
|
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
|
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs)
|
rs2136964385
|
|
NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter)
|
|
|
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
|
|
|
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)
|
rs886042360
|
|
NM_025114.4(CEP290):c.5822del (p.Lys1941fs)
|
|
|
NM_025114.4(CEP290):c.583_584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)
|
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.5855+1G>A
|
|
|
NM_025114.4(CEP290):c.5855+2T>G
|
|
|
NM_025114.4(CEP290):c.5953del (p.Glu1985fs)
|
|
|
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)
|
rs2035358840
|
|
NM_025114.4(CEP290):c.5972del (p.Lys1991fs)
|
rs1468269366
|
|
NM_025114.4(CEP290):c.6011+2T>G
|
|
|
NM_025114.4(CEP290):c.6138_6139delinsC (p.Ser2047fs)
|
|
|
NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)
|
|
|
NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)
|
|
|
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)
|
|
|
NM_025114.4(CEP290):c.626del (p.Ser209fs)
|
|
|
NM_025114.4(CEP290):c.6270+1G>T
|
|
|
NM_025114.4(CEP290):c.6270+2T>C
|
|
|
NM_025114.4(CEP290):c.6276_6280dup (p.Arg2094fs)
|
|
|
NM_025114.4(CEP290):c.6325G>T (p.Glu2109Ter)
|
|
|
NM_025114.4(CEP290):c.635dup (p.Asn212fs)
|
rs769091629
|
|
NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter)
|
rs1555197766
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6487dup (p.Met2163fs)
|
rs2136748724
|
|
NM_025114.4(CEP290):c.6490del (p.Ala2164fs)
|
|
|
NM_025114.4(CEP290):c.6516del (p.Lys2172fs)
|
rs1057519165
|
|
NM_025114.4(CEP290):c.6624del (p.Arg2208fs)
|
rs2136725569
|
|
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)
|
rs2034232539
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.6831del (p.Lys2278fs)
|
|
|
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
|
|
|
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)
|
rs2033937635
|
|
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6927del (p.Val2310fs)
|
|
|
NM_025114.4(CEP290):c.6928dup (p.Val2310fs)
|
|
|
NM_025114.4(CEP290):c.6933del (p.Asn2311fs)
|
|
|
NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)
|
|
|
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
|
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7157_7158del (p.Lys2386fs)
|
|
|
NM_025114.4(CEP290):c.7162_7163del (p.Leu2388fs)
|
|
|
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
|
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7209+1G>A
|
|
|
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)
|
rs763762899
|
|
NM_025114.4(CEP290):c.7233del (p.Glu2412fs)
|
rs2033254449
|
|
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
|
rs2033254449
|
|
NM_025114.4(CEP290):c.7248del (p.Phe2416fs)
|
|
|
NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)
|
|
|
NM_025114.4(CEP290):c.7256_7259del (p.Ser2419fs)
|
|
|
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)
|
rs1219184437
|
|
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
|
rs773642187
|
|
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs)
|
rs1482471100
|
|
NM_025114.4(CEP290):c.7311del (p.Asn2438fs)
|
|
|
NM_025114.4(CEP290):c.7327_7330delinsTATT (p.Glu2443_Lys2444delinsTyrTer)
|
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.734_735del (p.Glu245fs)
|
rs1592671672
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025114.4(CEP290):c.833del (p.Asn278fs)
|
|
|
NM_025114.4(CEP290):c.853-2A>G
|
|
|
NM_025114.4(CEP290):c.942+1G>C
|
rs2039897317
|
|
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710
|
|
NM_031885.5(BBS2):c.1027C>T (p.Gln343Ter)
|
|
|
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys)
|
rs1567576202
|
|
NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter)
|
rs1192804794
|
|
NM_031885.5(BBS2):c.1081-1G>A
|
rs1555522000
|
|
NM_031885.5(BBS2):c.1081-1G>T
|
rs1555522000
|
|
NM_031885.5(BBS2):c.1088T>A (p.Leu363Ter)
|
|
|
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)
|
rs1964269329
|
|
NM_031885.5(BBS2):c.118-1G>T
|
|
|
NM_031885.5(BBS2):c.118-2A>C
|
|
|
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
|
rs1964267396
|
|
NM_031885.5(BBS2):c.1225+2T>C
|
|
|
NM_031885.5(BBS2):c.1225+2dup
|
|
|
NM_031885.5(BBS2):c.1245_1261del (p.Leu416fs)
|
|
|
NM_031885.5(BBS2):c.1260_1262delinsTGTGTAT (p.Glu420fs)
|
|
|
NM_031885.5(BBS2):c.1273_1274insAACTGGAGAGGTT (p.Gly425fs)
|
|
|
NM_031885.5(BBS2):c.1290dup (p.His431fs)
|
rs777420525
|
|
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
|
|
|
NM_031885.5(BBS2):c.1313_1314insT (p.Ser439fs)
|
|
|
NM_031885.5(BBS2):c.1353_1354insTCAGTTTTGTCATCTTT (p.Pro452fs)
|
|
|
NM_031885.5(BBS2):c.1355del (p.Pro452fs)
|
|
|
NM_031885.5(BBS2):c.1371del (p.Lys458fs)
|
rs2144143132
|
|
NM_031885.5(BBS2):c.1397+1G>A
|
rs1225299095
|
|
NM_031885.5(BBS2):c.1397+2T>C
|
|
|
NM_031885.5(BBS2):c.1402C>T (p.Gln468Ter)
|
rs1791390525
|
|
NM_031885.5(BBS2):c.1453_1456dup (p.Leu486fs)
|
|
|
NM_031885.5(BBS2):c.1461del (p.Ser488fs)
|
|
|
NM_031885.5(BBS2):c.1502_1503del (p.Phe501fs)
|
|
|
NM_031885.5(BBS2):c.1527+1G>A
|
rs2144138948
|
|
NM_031885.5(BBS2):c.1527+2T>G
|
|
|
NM_031885.5(BBS2):c.1528-1G>C
|
rs2144135065
|
|
NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)
|
|
|
NM_031885.5(BBS2):c.1544del (p.Gly515fs)
|
rs2144134987
|
|
NM_031885.5(BBS2):c.157del (p.Ser53fs)
|
|
|
NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter)
|
|
|
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs)
|
rs750146549
|
|
NM_031885.5(BBS2):c.1654_1655insCT (p.Gly552fs)
|
|
|
NM_031885.5(BBS2):c.1700del (p.Ile567fs)
|
|
|
NM_031885.5(BBS2):c.1725del (p.Phe575fs)
|
rs2144132609
|
|
NM_031885.5(BBS2):c.1725dup (p.Ala576fs)
|
|
|
NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter)
|
|
|
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs)
|
rs1964155109
|
|
NM_031885.5(BBS2):c.1770del (p.Phe590fs)
|
rs193922711
|
|
NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter)
|
rs1964154734
|
|
NM_031885.5(BBS2):c.1794dup (p.Lys599Ter)
|
|
|
NM_031885.5(BBS2):c.1795_1796del (p.Lys599fs)
|
|
|
NM_031885.5(BBS2):c.1797+1G>A
|
rs1555521489
|
|
NM_031885.5(BBS2):c.1797G>A (p.Lys599=)
|
rs1177431007
|
|
NM_031885.5(BBS2):c.1798-2A>G
|
rs2144130282
|
|
NM_031885.5(BBS2):c.1843dup (p.Ala615fs)
|
rs1199538371
|
|
NM_031885.5(BBS2):c.184dup (p.Leu62fs)
|
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
NM_031885.5(BBS2):c.1911-1G>A
|
rs1555520256
|
|
NM_031885.5(BBS2):c.1911-1G>C
|
|
|
NM_031885.5(BBS2):c.1911-986_1914del
|
|
|
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)
|
rs1963758780
|
|
NM_031885.5(BBS2):c.1944T>A (p.Tyr648Ter)
|
|
|
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)
|
rs1166717771
|
|
NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter)
|
rs1555520220
|
|
NM_031885.5(BBS2):c.2059+1del
|
|
|
NM_031885.5(BBS2):c.2060-1G>T
|
rs1555520142
|
|
NM_031885.5(BBS2):c.217C>T (p.Gln73Ter)
|
rs199940492
|
|
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)
|
rs121908174
|
|
NM_031885.5(BBS2):c.255del (p.Glu86fs)
|
rs2144193104
|
|
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly)
|
rs1228731722
|
|
NM_031885.5(BBS2):c.278T>A (p.Leu93Ter)
|
|
|
NM_031885.5(BBS2):c.284_285del (p.Gly95fs)
|
|
|
NM_031885.5(BBS2):c.289C>T (p.Gln97Ter)
|
rs1964676925
|
|
NM_031885.5(BBS2):c.302T>A (p.Leu101Ter)
|
rs1964676419
|
|
NM_031885.5(BBS2):c.309_310insCACA (p.Asp104fs)
|
|
|
NM_031885.5(BBS2):c.324_343del (p.Asn108fs)
|
rs1555523964
|
|
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter)
|
rs181736797
|
|
NM_031885.5(BBS2):c.343G>T (p.Glu115Ter)
|
rs1964674209
|
|
NM_031885.5(BBS2):c.345+1G>A
|
|
|
NM_031885.5(BBS2):c.346-1G>C
|
|
|
NM_031885.5(BBS2):c.361_367delinsTTATGCAG (p.Asn121fs)
|
|
|
NM_031885.5(BBS2):c.365del (p.Ala122fs)
|
rs1964569500
|
|
NM_031885.5(BBS2):c.402del (p.Ala136fs)
|
rs1368647604
|
|
NM_031885.5(BBS2):c.406dup (p.Ala136fs)
|
|
|
NM_031885.5(BBS2):c.421_423del (p.Asn141del)
|
|
|
NM_031885.5(BBS2):c.437del (p.Gly146fs)
|
rs1170844318
|
|
NM_031885.5(BBS2):c.440del (p.Phe147fs)
|
rs1433422530
|
|
NM_031885.5(BBS2):c.471+1G>A
|
rs1555523584
|
|
NM_031885.5(BBS2):c.472del
|
rs587777826
|
|
NM_031885.5(BBS2):c.491_501del (p.Asn164fs)
|
|
|
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter)
|
rs1964558577
|
|
NM_031885.5(BBS2):c.534+2T>C
|
|
|
NM_031885.5(BBS2):c.535-1G>A
|
|
|
NM_031885.5(BBS2):c.535-2A>G
|
rs1555523398
|
|
NM_031885.5(BBS2):c.559dup (p.Asp187fs)
|
|
|
NM_031885.5(BBS2):c.55del (p.Val19fs)
|
rs1555524593
|
|
NM_031885.5(BBS2):c.583G>T (p.Glu195Ter)
|
rs1964531867
|
|
NM_031885.5(BBS2):c.619_620del (p.Thr207fs)
|
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)
|
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_031885.5(BBS2):c.691A>T (p.Lys231Ter)
|
|
|
NM_031885.5(BBS2):c.717+2T>G
|
rs1555522893
|
|
NM_031885.5(BBS2):c.718-2A>C
|
rs1964413705
|
|
NM_031885.5(BBS2):c.721A>T (p.Lys241Ter)
|
rs1964413369
|
|
NM_031885.5(BBS2):c.766G>T (p.Gly256Ter)
|
|
|
NM_031885.5(BBS2):c.774del (p.Asn258fs)
|
rs777218224
|
|
NM_031885.5(BBS2):c.784dup (p.Thr262fs)
|
|
|
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)
|
|
|
NM_031885.5(BBS2):c.802A>T (p.Lys268Ter)
|
|
|
NM_031885.5(BBS2):c.804+1G>T
|
rs2144162056
|
|
NM_031885.5(BBS2):c.804+1_804+14del
|
rs1202682571
|
|
NM_031885.5(BBS2):c.806T>G (p.Val269Gly)
|
rs886039797
|
|
NM_031885.5(BBS2):c.918_919dup (p.Cys307fs)
|
rs1555522252
|
|
NM_031885.5(BBS2):c.940+1G>A
|
|
|
NM_031885.5(BBS2):c.941-1G>A
|
|
|
NM_031885.5(BBS2):c.941-1G>T
|
rs777234811
|
|
NM_031885.5(BBS2):c.941-2A>C
|
rs878962682
|
|
NM_031885.5(BBS2):c.941-2A>G
|
|
|
NM_033028.5(BBS4):c.101del (p.Lys34fs)
|
|
|
NM_033028.5(BBS4):c.1036+1G>A
|
rs2151048301
|
|
NM_033028.5(BBS4):c.1037-1G>A
|
|
|
NM_033028.5(BBS4):c.1037-2A>G
|
|
|
NM_033028.5(BBS4):c.103C>T (p.Gln35Ter)
|
|
|
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
|
|
|
NM_033028.5(BBS4):c.1106+1G>A
|
|
|
NM_033028.5(BBS4):c.1106+2T>A
|
rs886041464
|
|
NM_033028.5(BBS4):c.1106+2T>C
|
|
|
NM_033028.5(BBS4):c.1106del (p.Lys369fs)
|
|
|
NM_033028.5(BBS4):c.1118T>A (p.Leu373Ter)
|
|
|
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
|
|
|
NM_033028.5(BBS4):c.1185T>A (p.Tyr395Ter)
|
|
|
NM_033028.5(BBS4):c.1202_1203dup (p.Val402fs)
|
|
|
NM_033028.5(BBS4):c.1205_1208del (p.Val402fs)
|
|
|
NM_033028.5(BBS4):c.1234_1248+5del
|
|
|
NM_033028.5(BBS4):c.1248+1G>A
|
|
|
NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
NM_033028.5(BBS4):c.1248+2dup
|
|
|
NM_033028.5(BBS4):c.1249-3_1259del
|
|
|
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
|
|
|
NM_033028.5(BBS4):c.1288G>T (p.Val430Phe)
|
|
|
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
|
|
|
NM_033028.5(BBS4):c.1308G>A (p.Trp436Ter)
|
|
|
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)
|
rs1281334523
|
|
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
|
|
|
NM_033028.5(BBS4):c.1398del (p.Ala467fs)
|
|
|
NM_033028.5(BBS4):c.1450+2T>C
|
|
|
NM_033028.5(BBS4):c.150del (p.Cys51fs)
|
|
|
NM_033028.5(BBS4):c.210_213del (p.Ile70fs)
|
rs775928735
|
|
NM_033028.5(BBS4):c.220+1G>A
|
|
|
NM_033028.5(BBS4):c.24+1G>A
|
rs759520211
|
|
NM_033028.5(BBS4):c.24+1G>T
|
rs759520211
|
|
NM_033028.5(BBS4):c.24+2T>G
|
|
|
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
|
|
|
NM_033028.5(BBS4):c.289_291delinsTG (p.Ser97fs)
|
rs2065449579
|
|
NM_033028.5(BBS4):c.295C>T (p.Gln99Ter)
|
|
|
NM_033028.5(BBS4):c.332+1G>T
|
|
|
NM_033028.5(BBS4):c.333-1G>C
|
rs2065474809
|
|
NM_033028.5(BBS4):c.333-2A>C
|
|
|
NM_033028.5(BBS4):c.341del (p.Leu114fs)
|
rs750258633
|
|
NM_033028.5(BBS4):c.405G>A (p.Trp135Ter)
|
|
|
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
|
|
|
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg)
|
rs1595935759
|
|
NM_033028.5(BBS4):c.511dup (p.Tyr171fs)
|
|
|
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
|
|
|
NM_033028.5(BBS4):c.584_585dup (p.Glu196fs)
|
|
|
NM_033028.5(BBS4):c.608_609del (p.Glu203fs)
|
|
|
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
|
|
|
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)
|
rs1060503692
|
|
NM_033028.5(BBS4):c.642+1G>A
|
|
|
NM_033028.5(BBS4):c.642+1G>T
|
|
|
NM_033028.5(BBS4):c.642+2T>G
|
|
|
NM_033028.5(BBS4):c.711+1G>A
|
rs2151044091
|
|
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)
|
rs1459736027
|
|
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)
|
rs200113494
|
|
NM_033028.5(BBS4):c.819del (p.Leu272_Trp273insTer)
|
|
|
NM_033028.5(BBS4):c.830G>T (p.Gly277Val)
|
rs749017489
|
|
NM_033028.5(BBS4):c.864+1G>A
|
|
|
NM_033028.5(BBS4):c.864+1G>C
|
rs2151047618
|
|
NM_033028.5(BBS4):c.865-3_865-2del
|
|
|
NM_033028.5(BBS4):c.87del (p.Pro30fs)
|
|
|
NM_033028.5(BBS4):c.929del (p.Leu310fs)
|
rs889012564
|
|
NM_033028.5(BBS4):c.95T>A (p.Leu32Ter)
|
|
|
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)
|
rs770891152
|
|
NM_144596.4(TTC8):c.114+2T>C
|
rs1273244823
|
|
NM_144596.4(TTC8):c.1387del (p.His463fs)
|
rs2141044380
|
|
NM_144596.4(TTC8):c.265+1_265+2del
|
rs1595939517
|
|
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)
|
rs376035653
|
|
NM_144596.4(TTC8):c.579+5G>A
|
rs2140977987
|
|
NM_144596.4(TTC8):c.69del (p.Cys23fs)
|
rs2094690718
|
|
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr)
|
rs1595959305
|
|
NM_144596.4(TTC8):c.710+1G>A
|
rs2140999630
|
|
NM_144596.4(TTC8):c.799-1G>T
|
|
|
NM_144596.4(TTC8):c.799-2A>G
|
rs771218088
|
|
NM_144596.4(TTC8):c.910-1G>A
|
rs2141033061
|
|
NM_152384.3(BBS5):c.142+1G>T
|
rs2105291750
|
|
NM_152384.3(BBS5):c.142+1del
|
|
|
NM_152384.3(BBS5):c.1A>T (p.Met1Leu)
|
|
|
NM_152384.3(BBS5):c.259-1G>A
|
|
|
NM_152384.3(BBS5):c.259-3C>G
|
rs564412855
|
|
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
|
rs1683515617
|
|
NM_152384.3(BBS5):c.386+1G>T
|
rs1559122277
|
|
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)
|
rs786205636
|
|
NM_152384.3(BBS5):c.59+5G>T
|
|
|
NM_152384.3(BBS5):c.60-2A>C
|
|
|
NM_152384.3(BBS5):c.681+1G>T
|
|
|
NM_152384.3(BBS5):c.817-1G>A
|
rs1466289570
|
|
NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)
|
|
|
NM_152384.3(BBS5):c.898del (p.Val300fs)
|
rs2105303591
|
|
NM_152384.3(BBS5):c.966dup (p.Ala323fs)
|
rs1553529427
|
|
NM_152522.7(ARL6IP6):c.373C>T (p.Leu125Phe)
|
|
|
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
|
|
|
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)
|
rs1553941369
|
|
NM_152618.3(BBS12):c.1073_1074del (p.Leu358fs)
|
|
|
NM_152618.3(BBS12):c.1082del (p.Gly361fs)
|
rs1057517193
|
|
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)
|
rs1800908907
|
|
NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs)
|
rs2150736865
|
|
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)
|
rs1553941391
|
|
NM_152618.3(BBS12):c.1145T>A (p.Leu382Ter)
|
|
|
NM_152618.3(BBS12):c.1151del (p.Ser384fs)
|
rs1553941404
|
|
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter)
|
rs747159816
|
|
NM_152618.3(BBS12):c.1225G>A (p.Val409Met)
|
rs1578491070
|
|
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)
|
rs766741204
|
|
NM_152618.3(BBS12):c.1289dup (p.Arg431fs)
|
|
|
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp)
|
rs756955366
|
|
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)
|
rs1553941433
|
|
NM_152618.3(BBS12):c.1339G>T (p.Glu447Ter)
|
|
|
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)
|
rs1195341481
|
|
NM_152618.3(BBS12):c.1482_1485del (p.Gly496fs)
|
|
|
NM_152618.3(BBS12):c.1531C>T (p.Gln511Ter)
|
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152618.3(BBS12):c.1537C>T (p.Gln513Ter)
|
|
|
NM_152618.3(BBS12):c.1560G>A (p.Trp520Ter)
|
|
|
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)
|
rs755314355
|
|
NM_152618.3(BBS12):c.1654_1655dup (p.Leu553fs)
|
|
|
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)
|
rs2150737598
|
|
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
|
|
|
NM_152618.3(BBS12):c.1795del (p.Leu599fs)
|
rs1553941540
|
|
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
|
|
|
NM_152618.3(BBS12):c.1886_1887del (p.Ser629fs)
|
|
|
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)
|
rs1560708847
|
|
NM_152618.3(BBS12):c.1910T>A (p.Leu637Ter)
|
|
|
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)
|
rs1553941580
|
|
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer)
|
rs1444062882
|
|
NM_152618.3(BBS12):c.1972C>T (p.Gln658Ter)
|
rs2150737953
|
|
NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)
|
|
|
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter)
|
rs746020725
|
|
NM_152618.3(BBS12):c.250G>A (p.Gly84Arg)
|
rs1578489760
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_152618.3(BBS12):c.270del (p.Val92fs)
|
rs1173504533
|
|
NM_152618.3(BBS12):c.2T>C (p.Met1Thr)
|
rs1553941150
|
|
NM_152618.3(BBS12):c.416_419del (p.Asp139fs)
|
rs1553941255
|
|
NM_152618.3(BBS12):c.424dup (p.Asp142fs)
|
rs1553941258
|
|
NM_152618.3(BBS12):c.494C>G (p.Ser165Ter)
|
|
|
NM_152618.3(BBS12):c.49dup (p.Gln17fs)
|
rs756061536
|
|
NM_152618.3(BBS12):c.568dup (p.Ser190fs)
|
rs1553941279
|
|
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)
|
rs769588983
|
|
NM_152618.3(BBS12):c.694dup (p.Ile232fs)
|
rs2150736431
|
|
NM_152618.3(BBS12):c.719_720del (p.Thr240fs)
|
|
|
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)
|
rs1553941304
|
|
NM_152618.3(BBS12):c.780_781del (p.His260fs)
|
rs865920726
|
|
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)
|
rs974173261
|
|
NM_152618.3(BBS12):c.869_873del (p.Val290fs)
|
rs1283655166
|
|
NM_152618.3(BBS12):c.880T>G (p.Tyr294Asp)
|
|
|
NM_152618.3(BBS12):c.911_912del (p.Cys304fs)
|
rs2150736648
|
|
NM_152618.3(BBS12):c.948_952del (p.Phe316fs)
|
|
|
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)
|
rs868404889
|
|
NM_170784.3(MKKS):c.1235G>T (p.Cys412Phe)
|
rs1396840386
|
|
NM_170784.3(MKKS):c.1353del (p.Phe450_Cys451insTer)
|
|
|
NM_170784.3(MKKS):c.1362_1369dup (p.Val457fs)
|
rs2122220042
|
|
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
|
|
|
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
|
|
|
NM_170784.3(MKKS):c.1486C>T (p.Gln496Ter)
|
|
|
NM_170784.3(MKKS):c.1530G>A (p.Trp510Ter)
|
|
|
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter)
|
rs1334961999
|
|
NM_170784.3(MKKS):c.182C>G (p.Ser61Ter)
|
|
|
NM_170784.3(MKKS):c.187_188dup (p.Leu64fs)
|
|
|
NM_170784.3(MKKS):c.221T>G (p.Leu74Ter)
|
|
|
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg)
|
rs1297985227
|
|
NM_170784.3(MKKS):c.383_391delinsG (p.Ile128fs)
|
|
|
NM_170784.3(MKKS):c.40_41del (p.Lys13_Ser14insTer)
|
|
|
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)
|
rs2122235362
|
|
NM_170784.3(MKKS):c.432del (p.Phe144fs)
|
|
|
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
|
|
|
NM_170784.3(MKKS):c.515_516del (p.Glu172fs)
|
rs2064904675
|
|
NM_170784.3(MKKS):c.611del (p.Pro203_Leu204insTer)
|
|
|
NM_170784.3(MKKS):c.619C>T (p.Gln207Ter)
|
|
|
NM_170784.3(MKKS):c.61A>T (p.Arg21Ter)
|
|
|
NM_170784.3(MKKS):c.63_64del (p.Arg21fs)
|
rs754066841
|
|
NM_170784.3(MKKS):c.668C>A (p.Ser223Ter)
|
|
|
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
|
|
|
NM_170784.3(MKKS):c.845dup (p.Leu283fs)
|
rs1555801973
|
|
NM_170784.3(MKKS):c.871G>T (p.Val291Phe)
|
|
|
NM_170784.3(MKKS):c.886del (p.Val296fs)
|
|
|
NM_170784.3(MKKS):c.940_941del (p.Asp314fs)
|
rs2064897670
|
|
NM_170784.3(MKKS):c.942_945del (p.Asp314fs)
|
|
|
NM_170784.3(MKKS):c.950_960del (p.Gly317fs)
|
|
|
NM_170784.3(MKKS):c.966del (p.Glu322fs)
|
|
|
NM_176824.3(BBS7):c.102+1G>T
|
|
|
NM_176824.3(BBS7):c.103-268_112del
|
|
|
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)
|
rs773139166
|
|
NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)
|
|
|
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs)
|
rs577434138
|
|
NM_176824.3(BBS7):c.115_116del (p.Asp39fs)
|
|
|
NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)
|
|
|
NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)
|
|
|
NM_176824.3(BBS7):c.1305+1G>A
|
|
|
NM_176824.3(BBS7):c.1305+2T>A
|
|
|
NM_176824.3(BBS7):c.1306-1_1308del
|
|
|
NM_176824.3(BBS7):c.1371+1G>A
|
rs1578537379
|
|
NM_176824.3(BBS7):c.1489del (p.Thr497fs)
|
|
|
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
|
|
|
NM_176824.3(BBS7):c.1512-1G>A
|
rs2149054421
|
|
NM_176824.3(BBS7):c.1551del (p.Phe517fs)
|
|
|
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)
|
rs587777836
|
|
NM_176824.3(BBS7):c.166-2A>G
|
|
|
NM_176824.3(BBS7):c.1677-2A>G
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NM_176824.3(BBS7):c.1677-490_1804del
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rs1578522416
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NM_176824.3(BBS7):c.1685_1686del (p.Glu562fs)
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NM_176824.3(BBS7):c.1685del (p.Glu562fs)
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NM_176824.3(BBS7):c.1786+1G>T
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rs1560638613
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NM_176824.3(BBS7):c.1786+2T>C
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NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)
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NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
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NM_176824.3(BBS7):c.1891-2A>C
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rs1057519027
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NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)
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NM_176824.3(BBS7):c.293_294del (p.Lys98fs)
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NM_176824.3(BBS7):c.328del (p.Ser110fs)
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NM_176824.3(BBS7):c.341+2T>C
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NM_176824.3(BBS7):c.389_390del (p.Asn130fs)
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rs863224530
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NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)
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NM_176824.3(BBS7):c.517dup (p.Arg173fs)
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NM_176824.3(BBS7):c.526C>T (p.Gln176Ter)
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rs2149084783
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NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
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NM_176824.3(BBS7):c.649dup (p.Ala217fs)
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rs886044668
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NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)
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rs1727380420
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NM_176824.3(BBS7):c.718+1G>C
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NM_176824.3(BBS7):c.719-2A>G
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NM_176824.3(BBS7):c.725dup (p.Leu242fs)
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NM_176824.3(BBS7):c.72del (p.Pro25fs)
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NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)
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NM_176824.3(BBS7):c.849+1G>A
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NM_176824.3(BBS7):c.87_88del (p.His29fs)
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rs1578577361
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NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)
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NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)
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NM_177965.4(CFAP418):c.177del (p.Glu60fs)
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rs1811931460
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NM_177965.4(CFAP418):c.240del (p.Ser81fs)
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rs1587357327
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NM_198428.2:c.2115+21712_2521+234del
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NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
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NM_198428.3(BBS9):c.118del (p.Lys39_Ile40insTer)
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NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter)
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NM_198428.3(BBS9):c.1275+1G>A
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NM_198428.3(BBS9):c.1277_1280del
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rs2128646927
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NM_198428.3(BBS9):c.1329+1738C>T
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NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter)
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rs863224534
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NM_198428.3(BBS9):c.1432+2T>G
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NM_198428.3(BBS9):c.1433-2A>G
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NM_198428.3(BBS9):c.1468del (p.Tyr490fs)
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rs1454474832
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NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)
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rs2128667543
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NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter)
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rs1401715737
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NM_198428.3(BBS9):c.1552+2T>A
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rs1563049863
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NM_198428.3(BBS9):c.1553-1G>A
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NM_198428.3(BBS9):c.1694-2A>G
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NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)
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rs746797123
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NM_198428.3(BBS9):c.1760_1764del (p.Arg587fs)
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NM_198428.3(BBS9):c.1812del (p.Glu604fs)
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rs1229015450
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NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter)
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NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter)
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NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter)
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NM_198428.3(BBS9):c.1963-1G>T
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NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)
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|
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NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs)
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rs1266192229
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NM_198428.3(BBS9):c.2113C>T (p.Gln705Ter)
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NM_198428.3(BBS9):c.2115+1G>A
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rs886039801
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NM_198428.3(BBS9):c.2116-2A>T
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NM_198428.3(BBS9):c.2299-2A>C
|
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NM_198428.3(BBS9):c.2412_2415dup (p.Ser806fs)
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NM_198428.3(BBS9):c.2521+1G>T
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NM_198428.3(BBS9):c.292_328+3delinsAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
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NM_198428.3(BBS9):c.360del (p.Gln120fs)
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NM_198428.3(BBS9):c.434del (p.Gly145fs)
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NM_198428.3(BBS9):c.496C>T (p.Gln166Ter)
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NM_198428.3(BBS9):c.702+1G>T
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NM_198428.3(BBS9):c.703-1G>C
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NM_198428.3(BBS9):c.703-2A>G
|
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NM_198428.3(BBS9):c.785T>C (p.Val262Ala)
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rs886039875
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NM_198428.3(BBS9):c.793G>T (p.Glu265Ter)
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NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
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NM_198428.3(BBS9):c.998_999insTT (p.Val333_Arg334insTer)
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