NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
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_001195305.3(BBIP1):c.38-6T>C
|
rs541703290
|
0.00013
|
NM_015910.7(WDPCP):c.979C>T (p.Gln327Ter)
|
rs182144885
|
0.00013
|
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
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_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
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_153704.6(TMEM67):c.224-2del
|
rs386834190
|
0.00010
|
NM_176824.3(BBS7):c.968A>G (p.His323Arg)
|
rs119466001
|
0.00010
|
NM_001177701.3(IFT27):c.352+1G>T
|
rs780659194
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)
|
rs267607119
|
0.00009
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
|
rs772544112
|
0.00006
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
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_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)
|
rs766132697
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)
|
rs119466002
|
0.00006
|
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro)
|
rs145907585
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_025103.4(IFT74):c.1685-1G>T
|
rs200699377
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
0.00005
|
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)
|
rs149614625
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
0.00004
|
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00004
|
NM_031885.5(BBS2):c.534+1G>T
|
rs773862084
|
0.00004
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
NM_152384.3(BBS5):c.143-1G>C
|
rs1054138918
|
0.00004
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter)
|
rs150332116
|
0.00004
|
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
|
rs754579374
|
0.00004
|
NM_176824.3(BBS7):c.601+3A>G
|
rs747555346
|
0.00004
|
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met)
|
rs753866301
|
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_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter)
|
rs751361090
|
0.00003
|
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)
|
rs375548374
|
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.626G>A (p.Gly209Glu)
|
rs372822977
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
0.00003
|
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
|
rs773052355
|
0.00003
|
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)
|
rs137852856
|
0.00003
|
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter)
|
rs769256027
|
0.00003
|
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr)
|
rs771054395
|
0.00002
|
NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg)
|
rs764523283
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)
|
rs183771956
|
0.00002
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
0.00002
|
NM_024685.4(BBS10):c.1244del (p.His415fs)
|
rs760642305
|
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_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_025114.4(CEP290):c.1066-1G>A
|
rs965522059
|
0.00002
|
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)
|
rs776645403
|
0.00002
|
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)
|
rs137852833
|
0.00002
|
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
|
rs770126103
|
0.00002
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
NM_025114.4(CEP290):c.6012-12T>A
|
rs752197734
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
0.00002
|
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)
|
rs762047808
|
0.00002
|
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)
|
rs764164384
|
0.00002
|
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)
|
rs914062190
|
0.00002
|
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)
|
rs752362727
|
0.00002
|
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)
|
rs751517725
|
0.00002
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)
|
rs775081992
|
0.00002
|
NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr)
|
rs587777546
|
0.00001
|
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)
|
rs515726134
|
0.00001
|
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)
|
rs137854907
|
0.00001
|
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg)
|
rs2037381055
|
0.00001
|
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)
|
rs104893678
|
0.00001
|
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)
|
rs104893679
|
0.00001
|
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)
|
rs104893680
|
0.00001
|
NM_006642.5(SDCCAG8):c.1717C>T (p.Gln573Ter)
|
rs1286714661
|
0.00001
|
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)
|
rs797045947
|
0.00001
|
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter)
|
rs267607031
|
0.00001
|
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)
|
rs111033570
|
0.00001
|
NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)
|
rs111033571
|
0.00001
|
NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter)
|
rs398124253
|
0.00001
|
NM_012210.4(TRIM32):c.691del (p.Ala231fs)
|
rs747685252
|
0.00001
|
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)
|
rs144645349
|
0.00001
|
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)
|
rs750338419
|
0.00001
|
NM_015910.7(WDPCP):c.301C>T (p.Arg101Ter)
|
rs772536466
|
0.00001
|
NM_017777.4(MKS1):c.191-1G>A
|
rs201362733
|
0.00001
|
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)
|
rs762482919
|
0.00001
|
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)
|
rs990955357
|
0.00001
|
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)
|
rs386834050
|
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_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)
|
rs515726136
|
0.00001
|
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)
|
rs1160669210
|
0.00001
|
NM_024649.5(BBS1):c.118del (p.Cys40fs)
|
rs1490351829
|
0.00001
|
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)
|
rs745656125
|
0.00001
|
NM_024649.5(BBS1):c.1473+4A>G
|
rs1486200900
|
0.00001
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
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.723+1G>C
|
rs1295318869
|
0.00001
|
NM_024649.5(BBS1):c.830G>A (p.Arg277Lys)
|
rs1856209517
|
0.00001
|
NM_024649.5(BBS1):c.851del (p.Tyr284fs)
|
rs587777830
|
0.00001
|
NM_024649.5(BBS1):c.890G>A (p.Arg297Gln)
|
rs372092113
|
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.1407T>G (p.Tyr469Ter)
|
rs1356713858
|
0.00001
|
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)
|
rs778431173
|
0.00001
|
NM_024685.4(BBS10):c.1839T>A (p.Tyr613Ter)
|
rs1951755742
|
0.00001
|
NM_024685.4(BBS10):c.340del (p.Gln114fs)
|
rs1191479533
|
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.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter)
|
rs763559949
|
0.00001
|
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)
|
rs1186821575
|
0.00001
|
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)
|
rs760415289
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.297+1G>T
|
rs878853360
|
0.00001
|
NM_025114.4(CEP290):c.3185del (p.Leu1062fs)
|
rs863225189
|
0.00001
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)
|
rs1468942944
|
0.00001
|
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)
|
rs1412133967
|
0.00001
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_025114.4(CEP290):c.5163del (p.Thr1722fs)
|
rs1565827171
|
0.00001
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)
|
rs371525247
|
0.00001
|
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)
|
rs767426153
|
0.00001
|
NM_025114.4(CEP290):c.6012-2A>G
|
rs555755221
|
0.00001
|
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)
|
rs750073051
|
0.00001
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
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.504del (p.Leu168fs)
|
rs1224014742
|
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.565C>T (p.Arg189Ter)
|
rs1273181642
|
0.00001
|
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)
|
rs121908180
|
0.00001
|
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)
|
rs779690256
|
0.00001
|
NM_031885.5(BBS2):c.717+1G>A
|
rs1047075022
|
0.00001
|
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)
|
rs797045155
|
0.00001
|
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)
|
rs28938468
|
0.00001
|
NM_033028.5(BBS4):c.187C>T (p.Gln63Ter)
|
rs1338469029
|
0.00001
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
NM_033028.5(BBS4):c.2T>C (p.Met1Thr)
|
rs1302879683
|
0.00001
|
NM_033028.5(BBS4):c.332+8T>C
|
rs1456405256
|
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_144596.4(TTC8):c.624+1G>A
|
rs587777808
|
0.00001
|
NM_144596.4(TTC8):c.915del (p.Met305fs)
|
rs1431207606
|
0.00001
|
NM_152384.3(BBS5):c.209-1G>A
|
rs1172161975
|
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.24G>A (p.Trp8Ter)
|
rs373396081
|
0.00001
|
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)
|
rs772757329
|
0.00001
|
NM_152384.3(BBS5):c.2T>A (p.Met1Lys)
|
rs767822498
|
0.00001
|
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)
|
rs1381368546
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)
|
rs1269565757
|
0.00001
|
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser)
|
rs142593414
|
0.00001
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
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.664dup (p.Ala222fs)
|
rs1800897309
|
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_152618.3(BBS12):c.898C>T (p.Gln300Ter)
|
rs754448484
|
0.00001
|
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)
|
rs863225235
|
0.00001
|
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)
|
rs751309268
|
0.00001
|
NM_153704.6(TMEM67):c.312+5G>A
|
rs786200868
|
0.00001
|
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu)
|
rs779116830
|
0.00001
|
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter)
|
rs753338844
|
0.00001
|
NM_170784.3(MKKS):c.1239_1242dup (p.Thr415Ter)
|
rs1306231185
|
0.00001
|
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter)
|
rs753180214
|
0.00001
|
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp)
|
rs28937875
|
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.415C>T (p.Arg139Ter)
|
rs142394051
|
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_170784.3(MKKS):c.890T>C (p.Ile297Thr)
|
rs147704542
|
0.00001
|
NM_170784.3(MKKS):c.986-1G>A
|
rs200633158
|
0.00001
|
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)
|
rs1470030897
|
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.304A>T (p.Lys102Ter)
|
rs766087213
|
0.00001
|
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp)
|
rs387907136
|
0.00001
|
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)
|
rs998200637
|
0.00001
|
NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter)
|
rs370729939
|
0.00001
|
NM_198428.3(BBS9):c.1175del (p.Ile392fs)
|
rs1815414782
|
0.00001
|
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter)
|
rs762511626
|
0.00001
|
NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter)
|
rs748601675
|
0.00001
|
NM_198428.3(BBS9):c.1693+1G>A
|
rs1295000119
|
0.00001
|
NM_198428.3(BBS9):c.214del (p.Val72fs)
|
rs1384578916
|
0.00001
|
NM_198428.3(BBS9):c.263+1G>A
|
rs137962929
|
0.00001
|
NM_198428.3(BBS9):c.442+1G>C
|
rs587777811
|
0.00001
|
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter)
|
rs781174906
|
0.00001
|
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
|
rs767005321
|
0.00001
|
BBS2, CYS210FS, TER246
|
|
|
BBS5, 8-BP DEL/7-BP INS, NT263
|
|
|
GRCh37/hg19 11q13.2(chr11:66274870-66292647)x1
|
|
|
GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1
|
|
|
GRCh37/hg19 2q13(chr2:110875689-110967529)
|
|
|
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
|
|
|
NC_000001.10:g.(?_243303219)_(243456541_?)del
|
|
|
NC_000001.10:g.(?_243335979)_(243419562_?)del
|
|
|
NC_000001.11:g.(?_242268256)_(243843190_?)del
|
|
|
NC_000001.11:g.(?_243415682)_(243415849_?)del
|
|
|
NC_000002.11:g.(?_170336064)_(170336142_?)del
|
|
|
NC_000002.11:g.(?_170349364)_(170350366_?)del
|
|
|
NC_000002.11:g.(?_170359585)_(170361092_?)del
|
|
|
NC_000002.11:g.(?_63401785)_(63401987_?)del
|
|
|
NC_000002.11:g.(?_63486422)_(63815425_?)del
|
|
|
NC_000002.11:g.(?_63540363)_(63540466_?)del
|
|
|
NC_000002.11:g.(?_63605501)_(63605664_?)del
|
|
|
NC_000002.11:g.(?_63711718)_(63815425_?)del
|
|
|
NC_000002.11:g.(?_63815311)_(63815405_?)del
|
|
|
NC_000002.12:g.(?_169492874)_(169493836_?)del
|
|
|
NC_000002.12:g.(?_63378386)_(63404657_?)del
|
|
|
NC_000002.12:g.169477282_169483199del
|
|
|
NC_000003.11:g.(97487075_97499002)_(97520087_?)del
|
|
|
NC_000003.11:g.(?_97194196)_(97510809_?)del
|
|
|
NC_000003.11:g.(?_97486952)_(97516893_?)del
|
|
|
NC_000003.11:g.(?_97498983)_(97516893_?)del
|
|
|
NC_000003.12:g.(?_97768108)_(97768230_?)del
|
|
|
NC_000004.12:g.(?_122741883)_(122744035_?)del
|
|
|
NC_000007.13:g.(33192464_33195249)_(33195315_33217089)del
|
|
|
NC_000007.13:g.(?_33054342)_(33185996_?)del
|
|
|
NC_000007.13:g.(?_33136085)_(33192483_?)del
|
|
|
NC_000007.13:g.(?_33185855)_(33195324_?)del
|
|
|
NC_000007.13:g.(?_33296828)_(33313588_?)del
|
|
|
NC_000007.13:g.(?_33296828)_(33427776_?)del
|
|
|
NC_000007.13:g.(?_33376033)_(33427776_?)del
|
|
|
NC_000007.13:g.(?_33388660)_(33388802_?)del
|
|
|
NC_000007.13:g.(?_33388660)_(33397627_?)del
|
|
|
NC_000007.13:g.(?_33423258)_(33427776_?)dup
|
|
|
NC_000009.11:g.(?_119380583)_(119495822_?)del
|
|
|
NC_000009.11:g.(?_119460155)_(119508439_?)del
|
|
|
NC_000009.11:g.(?_119461613)_(119523251_?)del
|
|
|
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_000011.10:g.66515694del
|
|
|
NC_000011.9:g.(66278711_66281876)_(66291354_66293593)del
|
|
|
NC_000011.9:g.(?_64522783)_(66283694_?)del
|
|
|
NC_000011.9:g.(?_66278111)_(66299528_?)del
|
|
|
NC_000011.9:g.(?_66278131)_(66283424_?)del
|
|
|
NC_000011.9:g.(?_66283001)_(66287229_?)del
|
|
|
NC_000011.9:g.(?_66283154)_(66287229_?)del
|
|
|
NC_000011.9:g.(?_66287078)_(66291105_?)del
|
|
|
NC_000011.9:g.(?_66288721)_(66293683_?)del
|
|
|
NC_000011.9:g.(?_66290917)_(66291363_?)del
|
|
|
NC_000011.9:g.(?_66291682)_(66293673_?)del
|
|
|
NC_000011.9:g.(?_66293041)_(66297307_?)del
|
|
|
NC_000011.9:g.(?_66293574)_(66299508_?)del
|
|
|
NC_000011.9:g.(?_66296758)_(66307295_?)del
|
|
|
NC_000012.12:g.(?_76345803)_(76348368_?)del
|
|
|
NC_000014.8:g.(?_89319295)_(89319420_?)del
|
|
|
NC_000015.10:g.(?_72686218)_(72686261_?)del
|
|
|
NC_000015.10:g.(?_72709680)_(72712327_?)del
|
|
|
NC_000015.10:g.(?_72715271)_(72716870_?)del
|
|
|
NC_000015.10:g.72708224_72722485del
|
|
|
NC_000015.9:g.(72987570_73002040)_(73004649_73007631)del
|
|
|
NC_000015.9:g.(73002121_73004584)_(73004649_73007631)del
|
|
|
NC_000015.9:g.(?_72978549)_(73029948_?)del
|
|
|
NC_000015.9:g.(?_72978569)_(73009211_?)del
|
|
|
NC_000015.9:g.(?_73004585)_(73004648_?)del
|
|
|
NC_000015.9:g.(?_73015115)_(73020355_?)del
|
|
|
NC_000015.9:g.(?_73015115)_(73024087_?)del
|
|
|
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
|
|
|
NC_000016.9:g.(?_56226148)_(58768132_?)del
|
|
|
NC_000016.9:g.(?_56518653)_(56545216_?)del
|
|
|
NC_000016.9:g.(?_56534756)_(56545206_?)del
|
|
|
NC_000016.9:g.(?_56544751)_(56545216_?)del
|
|
|
NC_000016.9:g.(?_56545061)_(56545206_?)del
|
|
|
NC_000020.11:g.(?_10405227)_(10413534_?)del
|
|
|
NM_000754.4(COMT):c.575_576insT (p.Trp193fs)
|
|
|
NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys)
|
rs1569077441
|
|
NM_001278293.3(ARL6):c.127C>T (p.Gln43Ter)
|
|
|
NM_001278293.3(ARL6):c.185+1G>C
|
rs1559679965
|
|
NM_001278293.3(ARL6):c.188T>A (p.Leu63Ter)
|
|
|
NM_001278293.3(ARL6):c.1A>G (p.Met1Val)
|
rs2107977736
|
|
NM_001278293.3(ARL6):c.228C>A (p.Tyr76Ter)
|
|
|
NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter)
|
rs2037147164
|
|
NM_001278293.3(ARL6):c.252T>G (p.Tyr84Ter)
|
|
|
NM_001278293.3(ARL6):c.262C>T (p.Gln88Ter)
|
|
|
NM_001278293.3(ARL6):c.302G>T (p.Arg101Ile)
|
|
|
NM_001278293.3(ARL6):c.351_353delinsGAAAA (p.Asp117fs)
|
rs1057515576
|
|
NM_001278293.3(ARL6):c.373dup (p.Ile125fs)
|
rs2037541934
|
|
NM_001278293.3(ARL6):c.406_409del (p.Asp136fs)
|
|
|
NM_001278293.3(ARL6):c.469del (p.Trp157fs)
|
|
|
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)
|
rs771628868
|
|
NM_001278293.3(ARL6):c.506del (p.Gly169fs)
|
rs1402463567
|
|
NM_001278293.3(ARL6):c.509T>G (p.Leu170Trp)
|
rs104893681
|
|
NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys)
|
rs2037751886
|
|
NM_001278293.3(ARL6):c.534A>G (p.Gln178=)
|
|
|
NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn)
|
rs2037752645
|
|
NM_001278293.3(ARL6):c.66C>A (p.Cys22Ter)
|
|
|
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)
|
rs104893680
|
|
NM_001348571.2(ZDHHC24):c.560-4178_*21+248del
|
|
|
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)
|
rs1473611414
|
|
NM_004758.4(TSPOAP1):c.1567C>T (p.Gln523Ter)
|
|
|
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.1159del (p.Ala387fs)
|
rs778900414
|
|
NM_006642.5(SDCCAG8):c.1177del (p.Met392_Met393insTer)
|
|
|
NM_006642.5(SDCCAG8):c.1418dup (p.Glu474fs)
|
|
|
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)
|
rs397515335
|
|
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs)
|
rs587777847
|
|
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs)
|
rs1390963789
|
|
NM_006642.5(SDCCAG8):c.1628_1631del (p.Asp543fs)
|
rs587777846
|
|
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter)
|
rs2080721288
|
|
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter)
|
rs756518004
|
|
NM_006642.5(SDCCAG8):c.221-2A>G
|
rs797045946
|
|
NM_006642.5(SDCCAG8):c.234dup (p.Asp79fs)
|
rs2149263988
|
|
NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter)
|
rs201658593
|
|
NM_006642.5(SDCCAG8):c.252del (p.Ala85fs)
|
|
|
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter)
|
rs768207230
|
|
NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)
|
|
|
NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)
|
|
|
NM_006642.5(SDCCAG8):c.553_554del (p.Met185fs)
|
|
|
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)
|
rs797045948
|
|
NM_006642.5(SDCCAG8):c.629dup (p.Asn210fs)
|
|
|
NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer)
|
rs1558264626
|
|
NM_006642.5(SDCCAG8):c.741-152G>A
|
rs2072310236
|
|
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter)
|
rs149038104
|
|
NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)
|
|
|
NM_006642.5(SDCCAG8):c.82del (p.Ser28fs)
|
|
|
NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)
|
|
|
NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)
|
|
|
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs)
|
rs1033766338
|
|
NM_012210.4(TRIM32):c.1087del (p.Ala363fs)
|
|
|
NM_012210.4(TRIM32):c.1108del (p.Met370fs)
|
rs759376012
|
|
NM_012210.4(TRIM32):c.1185dup (p.Gln396fs)
|
rs1180939705
|
|
NM_012210.4(TRIM32):c.1188del (p.Val397fs)
|
|
|
NM_012210.4(TRIM32):c.1370dup (p.Leu457fs)
|
rs35904234
|
|
NM_012210.4(TRIM32):c.1505C>G (p.Ser502Ter)
|
|
|
NM_012210.4(TRIM32):c.1518_1530del (p.Lys506fs)
|
rs2132075143
|
|
NM_012210.4(TRIM32):c.1560del (p.Cys521fs)
|
rs1588218453
|
|
NM_012210.4(TRIM32):c.1563dup (p.Asp522Ter)
|
|
|
NM_012210.4(TRIM32):c.1569_1575del (p.Glu524fs)
|
rs886044106
|
|
NM_012210.4(TRIM32):c.1685del (p.Gly562fs)
|
rs1564218190
|
|
NM_012210.4(TRIM32):c.190del (p.Cys64fs)
|
|
|
NM_012210.4(TRIM32):c.201del (p.Thr68fs)
|
|
|
NM_012210.4(TRIM32):c.232_235del (p.Asp78fs)
|
|
|
NM_012210.4(TRIM32):c.341del (p.Ser114fs)
|
|
|
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)
|
rs749696299
|
|
NM_012210.4(TRIM32):c.476_477dup (p.Met160fs)
|
rs2132071763
|
|
NM_012210.4(TRIM32):c.484del (p.Glu162fs)
|
|
|
NM_012210.4(TRIM32):c.498del (p.Lys167fs)
|
|
|
NM_012210.4(TRIM32):c.542_543insAAAGGTA (p.Tyr181Ter)
|
rs2132072043
|
|
NM_012210.4(TRIM32):c.606_607del (p.Arg203fs)
|
rs2132072315
|
|
NM_012210.4(TRIM32):c.699_700delinsCT (p.Gln234Ter)
|
|
|
NM_012210.4(TRIM32):c.741_745dup (p.Ala249fs)
|
|
|
NM_012210.4(TRIM32):c.758del (p.Leu253fs)
|
rs1861000401
|
|
NM_012210.4(TRIM32):c.763G>T (p.Glu255Ter)
|
|
|
NM_012210.4(TRIM32):c.826C>T (p.Gln276Ter)
|
|
|
NM_012210.4(TRIM32):c.868C>T (p.Gln290Ter)
|
rs1272966742
|
|
NM_012210.4(TRIM32):c.885del (p.Lys296fs)
|
|
|
NM_012210.4(TRIM32):c.920G>A (p.Trp307Ter)
|
|
|
NM_012210.4(TRIM32):c.921G>A (p.Trp307Ter)
|
|
|
NM_012210.4(TRIM32):c.928G>T (p.Glu310Ter)
|
|
|
NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del
|
|
|
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg)
|
rs1282056614
|
|
NM_015662.3(IFT172):c.2158del (p.Arg720fs)
|
rs587777086
|
|
NM_015662.3(IFT172):c.4428+3A>G
|
rs2148476381
|
|
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln)
|
rs786205855
|
|
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs)
|
rs587777078
|
|
NM_015910.7(WDPCP):c.1198del (p.Glu400fs)
|
|
|
NM_015910.7(WDPCP):c.1342del (p.Val448fs)
|
|
|
NM_015910.7(WDPCP):c.1347_1348del (p.Gln451fs)
|
rs1694365826
|
|
NM_015910.7(WDPCP):c.1360G>T (p.Glu454Ter)
|
|
|
NM_015910.7(WDPCP):c.1419_1420del (p.Leu474fs)
|
rs1281918775
|
|
NM_015910.7(WDPCP):c.1727_1728del (p.Arg576fs)
|
|
|
NM_015910.7(WDPCP):c.1751_1773del (p.Tyr584fs)
|
rs2103954534
|
|
NM_015910.7(WDPCP):c.1799del (p.Arg600fs)
|
|
|
NM_015910.7(WDPCP):c.1809_1812+6del
|
rs2103953112
|
|
NM_015910.7(WDPCP):c.1872_1875dup (p.Ala626fs)
|
rs1681413798
|
|
NM_015910.7(WDPCP):c.1910_1913del (p.Gly637fs)
|
rs2104771725
|
|
NM_015910.7(WDPCP):c.2078+1G>T
|
rs1673664656
|
|
NM_015910.7(WDPCP):c.216del (p.Glu72fs)
|
|
|
NM_015910.7(WDPCP):c.340dup (p.Ser114fs)
|
|
|
NM_015910.7(WDPCP):c.512_515del (p.Asp171fs)
|
|
|
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)
|
rs2105500878
|
|
NM_015910.7(WDPCP):c.679C>T (p.Arg227Ter)
|
|
|
NM_015910.7(WDPCP):c.755G>A (p.Trp252Ter)
|
rs2105466704
|
|
NM_015910.7(WDPCP):c.76-1G>T
|
rs397704728
|
|
NM_015910.7(WDPCP):c.925_931del (p.Asp309fs)
|
|
|
NM_017777.4(MKS1):c.1112_1114del (p.Phe371del)
|
rs587777804
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)
|
rs730882120
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer)
|
rs386834047
|
|
NM_017777.4(MKS1):c.417+1G>A
|
rs756368560
|
|
NM_020347.4(LZTFL1):c.253C>T (p.Arg85Ter)
|
|
|
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)
|
rs515726135
|
|
NM_020347.4(LZTFL1):c.402_406del (p.Pro136fs)
|
rs431825171
|
|
NM_020347.4(LZTFL1):c.415dup (p.Ala139fs)
|
|
|
NM_024649.4(BBS1):c.1111-?_1695+?del
|
|
|
NM_024649.4(BBS1):c.592-?_830+?del
|
|
|
NM_024649.4:c.(159+1_160-1)_(1110+1_1111-1)del
|
|
|
NM_024649.4:c.1214_1215ins[MT113356.1:g.1_2409]
|
|
|
NM_024649.4:c.160-?_1110+?del
|
|
|
NM_024649.5(BBS1):c.-3_37del (p.Met1fs)
|
rs113994178
|
|
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter)
|
rs869025205
|
|
NM_024649.5(BBS1):c.1025dup (p.Leu343fs)
|
rs2134797289
|
|
NM_024649.5(BBS1):c.1035_1038del (p.Val346fs)
|
|
|
NM_024649.5(BBS1):c.103dup (p.His35fs)
|
|
|
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)
|
rs1057516533
|
|
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
|
|
|
NM_024649.5(BBS1):c.1110+3G>C
|
rs762276925
|
|
NM_024649.5(BBS1):c.1119dup (p.Thr374fs)
|
|
|
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg)
|
rs1565287512
|
|
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)
|
rs786204701
|
|
NM_024649.5(BBS1):c.1214_1215insSVA
|
|
|
NM_024649.5(BBS1):c.1232_1235del (p.Gly411fs)
|
rs1555049194
|
|
NM_024649.5(BBS1):c.1235del (p.Gly412fs)
|
rs1856517666
|
|
NM_024649.5(BBS1):c.124+1G>A
|
rs1057516449
|
|
NM_024649.5(BBS1):c.124+1G>C
|
rs1057516449
|
|
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)
|
rs1060503690
|
|
NM_024649.5(BBS1):c.1243del (p.Val415fs)
|
rs1590772920
|
|
NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter)
|
rs1856520165
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.1285dup (p.Arg429fs)
|
rs1565287921
|
|
NM_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
NM_024649.5(BBS1):c.1340-2A>G
|
rs113994180
|
|
NM_024649.5(BBS1):c.1383dup (p.Arg462fs)
|
|
|
NM_024649.5(BBS1):c.1385_1401dup (p.Leu468fs)
|
rs1166459319
|
|
NM_024649.5(BBS1):c.1389_1405dup (p.Gln469fs)
|
|
|
NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter)
|
|
|
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter)
|
rs1565289799
|
|
NM_024649.5(BBS1):c.1405del (p.Gln469fs)
|
|
|
NM_024649.5(BBS1):c.1424dup (p.Ser476fs)
|
rs886039798
|
|
NM_024649.5(BBS1):c.1432dup (p.Leu478fs)
|
|
|
NM_024649.5(BBS1):c.1450G>T (p.Glu484Ter)
|
|
|
NM_024649.5(BBS1):c.145del (p.Asp49fs)
|
rs1855937296
|
|
NM_024649.5(BBS1):c.1473+2T>C
|
rs1856699646
|
|
NM_024649.5(BBS1):c.1491del (p.Thr498fs)
|
rs2134836723
|
|
NM_024649.5(BBS1):c.1516C>T (p.Gln506Ter)
|
rs2134836882
|
|
NM_024649.5(BBS1):c.1564del (p.Leu522fs)
|
rs2134837160
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
NM_024649.5(BBS1):c.158dup (p.Leu54fs)
|
rs1313590454
|
|
NM_024649.5(BBS1):c.1606A>T (p.Lys536Ter)
|
|
|
NM_024649.5(BBS1):c.1614del (p.Leu539fs)
|
rs1856785950
|
|
NM_024649.5(BBS1):c.1642del (p.Leu548fs)
|
rs1555050404
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
NM_024649.5(BBS1):c.1646del (p.Glu549fs)
|
|
|
NM_024649.5(BBS1):c.1657G>T (p.Glu553Ter)
|
rs1856788934
|
|
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg)
|
rs1565291081
|
|
NM_024649.5(BBS1):c.1695+1G>A
|
rs2134841394
|
|
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)
|
rs1434577015
|
|
NM_024649.5(BBS1):c.17dup (p.Ser7fs)
|
rs1166022838
|
|
NM_024649.5(BBS1):c.1A>G (p.Met1Val)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter)
|
rs1012901050
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024649.5(BBS1):c.235G>T (p.Glu79Ter)
|
rs138744839
|
|
NM_024649.5(BBS1):c.2T>C (p.Met1Thr)
|
|
|
NM_024649.5(BBS1):c.319dup (p.Ala107fs)
|
rs1856010064
|
|
NM_024649.5(BBS1):c.331del (p.Cys111fs)
|
|
|
NM_024649.5(BBS1):c.339del (p.Val112_Tyr113insTer)
|
|
|
NM_024649.5(BBS1):c.345dup (p.Lys116Ter)
|
rs1555046611
|
|
NM_024649.5(BBS1):c.346_347dup (p.Asn117fs)
|
|
|
NM_024649.5(BBS1):c.356_357insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATCTCAG (p.Arg119_Pro120insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter)
|
rs1856010874
|
|
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter)
|
rs2134771570
|
|
NM_024649.5(BBS1):c.3G>A (p.Met1Ile)
|
|
|
NM_024649.5(BBS1):c.417G>A (p.Trp139Ter)
|
rs1856011993
|
|
NM_024649.5(BBS1):c.421C>T (p.Gln141Ter)
|
rs2134771631
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024649.5(BBS1):c.449T>A (p.Leu150Ter)
|
|
|
NM_024649.5(BBS1):c.47+1G>T
|
rs1475257145
|
|
NM_024649.5(BBS1):c.48-1G>A
|
rs751753112
|
|
NM_024649.5(BBS1):c.48-1G>T
|
rs751753112
|
|
NM_024649.5(BBS1):c.48-2A>G
|
|
|
NM_024649.5(BBS1):c.48-3C>G
|
rs869025204
|
|
NM_024649.5(BBS1):c.480-1G>C
|
rs1057516933
|
|
NM_024649.5(BBS1):c.526C>T (p.Gln176Ter)
|
|
|
NM_024649.5(BBS1):c.573dup (p.Asn192fs)
|
|
|
NM_024649.5(BBS1):c.589C>T (p.Gln197Ter)
|
rs777143614
|
|
NM_024649.5(BBS1):c.595_598del (p.Val199fs)
|
rs1555047409
|
|
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer)
|
rs2134780429
|
|
NM_024649.5(BBS1):c.667del (p.Thr223fs)
|
|
|
NM_024649.5(BBS1):c.688del (p.Val230fs)
|
rs1856141939
|
|
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)
|
rs778850233
|
|
NM_024649.5(BBS1):c.690dup (p.Leu231fs)
|
|
|
NM_024649.5(BBS1):c.71dup (p.Leu24fs)
|
rs1855932012
|
|
NM_024649.5(BBS1):c.723+2T>G
|
|
|
NM_024649.5(BBS1):c.724-8_726del
|
rs1856202628
|
|
NM_024649.5(BBS1):c.747_748del (p.Phe250fs)
|
|
|
NM_024649.5(BBS1):c.752del (p.Leu251fs)
|
rs2134784600
|
|
NM_024649.5(BBS1):c.767del (p.Gln256fs)
|
rs1590762360
|
|
NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)
|
|
|
NM_024649.5(BBS1):c.796_805dup (p.Asn269fs)
|
|
|
NM_024649.5(BBS1):c.830+350_1110+217del
|
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
NM_024649.5(BBS1):c.831-3C>G
|
rs113994179
|
|
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)
|
rs1057516427
|
|
NM_024649.5(BBS1):c.863T>G (p.Leu288Arg)
|
|
|
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)
|
rs1057517143
|
|
NM_024649.5(BBS1):c.887del (p.Ile296fs)
|
rs794727006
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+1G>C
|
|
|
NM_024649.5(BBS1):c.951+1G>T
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+2T>A
|
|
|
NM_024649.5(BBS1):c.951+58C>T
|
rs1856346961
|
|
NM_024649.5(BBS1):c.952-1G>C
|
rs1057516661
|
|
NM_024649.5(BBS1):c.981del (p.Ala328fs)
|
rs1057516371
|
|
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp)
|
rs1363498219
|
|
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro)
|
rs137852836
|
|
NM_024685.4(BBS10):c.1024dup (p.Ile342fs)
|
rs869025210
|
|
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)
|
rs587777837
|
|
NM_024685.4(BBS10):c.1064del (p.Gln355fs)
|
rs1555202654
|
|
NM_024685.4(BBS10):c.1068del (p.Ser358fs)
|
|
|
NM_024685.4(BBS10):c.1080_1081del (p.Cys360_Glu361delinsTer)
|
rs2136090624
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1122dup (p.Ile375fs)
|
rs753604828
|
|
NM_024685.4(BBS10):c.1138dup (p.Arg380fs)
|
rs1555202645
|
|
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter)
|
rs1340165752
|
|
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.118A>T (p.Lys40Ter)
|
rs202228478
|
|
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)
|
rs199474722
|
|
NM_024685.4(BBS10):c.1225del (p.Gln409fs)
|
|
|
NM_024685.4(BBS10):c.1227del (p.Gln409fs)
|
|
|
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)
|
rs1057517156
|
|
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
|
|
|
NM_024685.4(BBS10):c.1264del (p.Arg422fs)
|
|
|
NM_024685.4(BBS10):c.1272del (p.Leu424fs)
|
|
|
NM_024685.4(BBS10):c.1290_1293del (p.Asn431fs)
|
rs2136090423
|
|
NM_024685.4(BBS10):c.1315del (p.Gln439fs)
|
rs1592491950
|
|
NM_024685.4(BBS10):c.1330del (p.Ser444fs)
|
rs2136090382
|
|
NM_024685.4(BBS10):c.1330dup (p.Ser444fs)
|
|
|
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.1338dup (p.Ile447fs)
|
|
|
NM_024685.4(BBS10):c.1341_1344del (p.Tyr448fs)
|
|
|
NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter)
|
rs778731343
|
|
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)
|
rs759682922
|
|
NM_024685.4(BBS10):c.1399del (p.Arg467fs)
|
|
|
NM_024685.4(BBS10):c.1447dup (p.Thr483fs)
|
rs759185809
|
|
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs)
|
rs786204705
|
|
NM_024685.4(BBS10):c.1452_1455del (p.Gln484fs)
|
rs1565809597
|
|
NM_024685.4(BBS10):c.1453dup (p.Thr485fs)
|
rs2136090243
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)
|
rs886043841
|
|
NM_024685.4(BBS10):c.1514_1520del (p.Pro505fs)
|
rs1951758972
|
|
NM_024685.4(BBS10):c.1527dup (p.Thr510fs)
|
|
|
NM_024685.4(BBS10):c.152dup (p.Gly52fs)
|
|
|
NM_024685.4(BBS10):c.1532dup (p.Thr512fs)
|
|
|
NM_024685.4(BBS10):c.1542del (p.Asp515fs)
|
rs1057517031
|
|
NM_024685.4(BBS10):c.1547del (p.Thr516fs)
|
rs869025211
|
|
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter)
|
rs1951758601
|
|
NM_024685.4(BBS10):c.1555_1564del (p.Thr519fs)
|
|
|
NM_024685.4(BBS10):c.1556_1557del (p.Thr519fs)
|
rs2136090126
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)
|
rs1951757988
|
|
NM_024685.4(BBS10):c.1619T>G (p.Leu540Ter)
|
|
|
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
|
|
|
NM_024685.4(BBS10):c.1654G>T (p.Gly552Ter)
|
rs2136090024
|
|
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)
|
rs1565809478
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
|
|
|
NM_024685.4(BBS10):c.1702del (p.Thr568fs)
|
|
|
NM_024685.4(BBS10):c.1724del (p.Pro575fs)
|
rs1057516754
|
|
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
NM_024685.4(BBS10):c.1767C>G (p.Tyr589Ter)
|
|
|
NM_024685.4(BBS10):c.1795_1796del (p.Val599fs)
|
|
|
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
|
|
|
NM_024685.4(BBS10):c.1812dup (p.Asn605Ter)
|
|
|
NM_024685.4(BBS10):c.1814_1815del (p.Asn605fs)
|
rs2136089877
|
|
NM_024685.4(BBS10):c.1834del (p.Tyr612fs)
|
rs2136089858
|
|
NM_024685.4(BBS10):c.1856_1865del (p.Lys619fs)
|
rs869025209
|
|
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)
|
rs768385647
|
|
NM_024685.4(BBS10):c.1892_1896del (p.Met631fs)
|
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)
|
|
|
NM_024685.4(BBS10):c.1959del (p.Pro655fs)
|
rs1057516628
|
|
NM_024685.4(BBS10):c.197+1G>A
|
rs886042729
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.1971_1975del (p.Tyr658fs)
|
|
|
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser)
|
rs1565810301
|
|
NM_024685.4(BBS10):c.2030del (p.Gly677fs)
|
rs1064796315
|
|
NM_024685.4(BBS10):c.2044dup (p.Met682fs)
|
rs2136089682
|
|
NM_024685.4(BBS10):c.2052del (p.Lys684fs)
|
rs1951753726
|
|
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.235del (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.253del (p.Thr85fs)
|
|
|
NM_024685.4(BBS10):c.257_261del (p.Phe86fs)
|
rs1060500996
|
|
NM_024685.4(BBS10):c.258del (p.Phe86fs)
|
rs1951773957
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.27_37del (p.Ser10fs)
|
rs1278460471
|
|
NM_024685.4(BBS10):c.306_309del (p.Asp102fs)
|
rs745497072
|
|
NM_024685.4(BBS10):c.308_312del (p.Arg103fs)
|
|
|
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)
|
rs2136091244
|
|
NM_024685.4(BBS10):c.313_314del (p.Lys105fs)
|
rs2136091240
|
|
NM_024685.4(BBS10):c.32T>G (p.Val11Gly)
|
rs137852838
|
|
NM_024685.4(BBS10):c.35dup (p.Ala13fs)
|
rs2136091633
|
|
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter)
|
rs1951771573
|
|
NM_024685.4(BBS10):c.365dup (p.Asn122fs)
|
rs774095109
|
|
NM_024685.4(BBS10):c.391C>T (p.Gln131Ter)
|
rs1565810183
|
|
NM_024685.4(BBS10):c.391del (p.Gln131fs)
|
|
|
NM_024685.4(BBS10):c.39_46del (p.Ala14fs)
|
rs1555202806
|
|
NM_024685.4(BBS10):c.409C>T (p.Gln137Ter)
|
rs2136091166
|
|
NM_024685.4(BBS10):c.415C>T (p.Gln139Ter)
|
|
|
NM_024685.4(BBS10):c.439C>T (p.Gln147Ter)
|
rs199998327
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
NM_024685.4(BBS10):c.448_449insAGGT (p.Ser150fs)
|
|
|
NM_024685.4(BBS10):c.455_456del (p.His152fs)
|
rs2136091120
|
|
NM_024685.4(BBS10):c.466_467del (p.Ile156fs)
|
|
|
NM_024685.4(BBS10):c.467del (p.Ile156fs)
|
rs2136091103
|
|
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
|
rs553291328
|
|
NM_024685.4(BBS10):c.482_497del (p.Lys161fs)
|
|
|
NM_024685.4(BBS10):c.483dup (p.Glu162fs)
|
|
|
NM_024685.4(BBS10):c.490dup (p.Thr164fs)
|
rs2136091086
|
|
NM_024685.4(BBS10):c.496dup (p.Cys166fs)
|
|
|
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)
|
rs1555202700
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024685.4(BBS10):c.559_561del (p.His187del)
|
rs781421232
|
|
NM_024685.4(BBS10):c.568_571del (p.Ile190fs)
|
rs1057516266
|
|
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)
|
rs1057517184
|
|
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser)
|
rs1951767864
|
|
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del)
|
rs1318745309
|
|
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)
|
rs756632517
|
|
NM_024685.4(BBS10):c.598A>T (p.Lys200Ter)
|
rs1951767589
|
|
NM_024685.4(BBS10):c.643_655del (p.Val214_Asp215insTer)
|
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)
|
|
|
NM_024685.4(BBS10):c.708_711dup (p.Gly238fs)
|
|
|
NM_024685.4(BBS10):c.724del (p.Gln242fs)
|
rs1565809995
|
|
NM_024685.4(BBS10):c.725_737del (p.Gln242fs)
|
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter)
|
rs1156913215
|
|
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.805dup (p.Ser269fs)
|
|
|
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)
|
rs1476664656
|
|
NM_024685.4(BBS10):c.883A>T (p.Lys295Ter)
|
rs2136090788
|
|
NM_024685.4(BBS10):c.894_897dup (p.His300fs)
|
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)
|
rs137852837
|
|
NM_024685.4(BBS10):c.953del (p.Asp317_Leu318insTer)
|
rs2136090739
|
|
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)
|
rs758522600
|
|
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter)
|
rs1555202662
|
|
NM_024685.4(BBS10):c.999T>A (p.Cys333Ter)
|
rs1565809867
|
|
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
|
|
|
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg)
|
rs750665609
|
|
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)
|
rs2136091654
|
|
NM_025103.4(IFT74):c.371_372del (p.Gln124fs)
|
rs2131541114
|
|
NM_025114.4(CEP290):c.1189+1G>A
|
rs2039659434
|
|
NM_025114.4(CEP290):c.1189+2T>C
|
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)
|
rs771266705
|
|
NM_025114.4(CEP290):c.1451del (p.Lys484fs)
|
rs386834149
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1623+1G>A
|
rs863225186
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter)
|
rs1272411609
|
|
NM_025114.4(CEP290):c.180+1G>T
|
|
|
NM_025114.4(CEP290):c.1830del (p.Glu610fs)
|
rs992032116
|
|
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs)
|
rs766608755
|
|
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs)
|
rs1033594764
|
|
NM_025114.4(CEP290):c.1910-11T>G
|
rs1555220638
|
|
NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter)
|
rs2038919221
|
|
NM_025114.4(CEP290):c.1992del (p.Pro665fs)
|
rs770175184
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.2112del (p.Val705fs)
|
rs863225183
|
|
NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)
|
|
|
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer)
|
rs2137720951
|
|
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs)
|
rs587783010
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)
|
rs1223251937
|
|
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)
|
|
|
NM_025114.4(CEP290):c.270_274del (p.Lys90fs)
|
|
|
NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter)
|
rs1180594304
|
|
NM_025114.4(CEP290):c.297+1G>A
|
rs878853360
|
|
NM_025114.4(CEP290):c.3012del (p.Glu1005fs)
|
rs1555213204
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)
|
rs878853362
|
|
NM_025114.4(CEP290):c.3310-1G>A
|
|
|
NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)
|
|
|
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs)
|
rs770474857
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)
|
rs2036824785
|
|
NM_025114.4(CEP290):c.384_385del (p.Asp128fs)
|
rs1288619268
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
|
rs761907569
|
|
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
|
rs587783016
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)
|
rs1339975972
|
|
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)
|
rs779645669
|
|
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs)
|
rs62640582
|
|
NM_025114.4(CEP290):c.4384del (p.Glu1462fs)
|
rs863225182
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
|
rs757309583
|
|
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs)
|
rs2036318355
|
|
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)
|
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)
|
|
|
NM_025114.4(CEP290):c.5046del (p.Lys1682_Val1683insTer)
|
|
|
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs)
|
rs757609119
|
|
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs)
|
rs749331348
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs)
|
rs281865187
|
|
NM_025114.4(CEP290):c.5519_5537del (p.Lys1840fs)
|
|
|
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
|
rs1592807018
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)
|
rs281865188
|
|
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)
|
rs267606719
|
|
NM_025114.4(CEP290):c.5709+2T>G
|
|
|
NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)
|
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
|
rs1592784618
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)
|
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
NM_025114.4(CEP290):c.6271-8T>G
|
rs1039146791
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
|
|
|
NM_025114.4(CEP290):c.679_680del (p.Glu227fs)
|
rs62640578
|
|
NM_025114.4(CEP290):c.6869del (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)
|
rs1592726020
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7334dup (p.Leu2448fs)
|
|
|
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710
|
|
NM_031885.5(BBS2):c.1015del (p.Arg339fs)
|
|
|
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys)
|
rs1567576202
|
|
NM_031885.5(BBS2):c.110del (p.Thr37fs)
|
rs2144214319
|
|
NM_031885.5(BBS2):c.113del (p.Gly38fs)
|
rs2144214277
|
|
NM_031885.5(BBS2):c.1148_1149dup (p.His384fs)
|
|
|
NM_031885.5(BBS2):c.1161del (p.Ser388fs)
|
rs2144145429
|
|
NM_031885.5(BBS2):c.1162_1163del (p.Val389fs)
|
|
|
NM_031885.5(BBS2):c.1163C>A (p.Ser388Ter)
|
|
|
NM_031885.5(BBS2):c.1179_1180del (p.Asn393fs)
|
|
|
NM_031885.5(BBS2):c.118-1G>C
|
rs587777825
|
|
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
|
rs1964267396
|
|
NM_031885.5(BBS2):c.1218_1219insGTAATGG (p.Ser407fs)
|
rs2144145120
|
|
NM_031885.5(BBS2):c.1221_1222insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTCGCATTTCCACTTCT (p.Asn408delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaIleValTyrTer)
|
|
|
NM_031885.5(BBS2):c.1225+1del
|
|
|
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
|
|
|
NM_031885.5(BBS2):c.1346_1347del (p.Lys449fs)
|
|
|
NM_031885.5(BBS2):c.1371del (p.Lys458fs)
|
rs2144143132
|
|
NM_031885.5(BBS2):c.1393del (p.Ser465fs)
|
|
|
NM_031885.5(BBS2):c.1465del (p.Leu489fs)
|
|
|
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs)
|
rs1363846772
|
|
NM_031885.5(BBS2):c.1546C>T (p.Gln516Ter)
|
rs1597012997
|
|
NM_031885.5(BBS2):c.1555del (p.Leu519fs)
|
|
|
NM_031885.5(BBS2):c.1572_1575del (p.His525fs)
|
rs2144134877
|
|
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs)
|
rs750146549
|
|
NM_031885.5(BBS2):c.1662del (p.Thr555fs)
|
|
|
NM_031885.5(BBS2):c.1662dup (p.Thr555fs)
|
rs2144132870
|
|
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)
|
rs1555521501
|
|
NM_031885.5(BBS2):c.175del (p.Gln59fs)
|
rs2144193544
|
|
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs)
|
rs1964155109
|
|
NM_031885.5(BBS2):c.1767T>G (p.Tyr589Ter)
|
|
|
NM_031885.5(BBS2):c.1770del (p.Phe590fs)
|
rs193922711
|
|
NM_031885.5(BBS2):c.1800_1801insT (p.Asp601Ter)
|
|
|
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs)
|
rs1964134678
|
|
NM_031885.5(BBS2):c.1811_1821del (p.His604fs)
|
|
|
NM_031885.5(BBS2):c.1822C>T (p.Gln608Ter)
|
|
|
NM_031885.5(BBS2):c.1843dup (p.Ala615fs)
|
rs1199538371
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
NM_031885.5(BBS2):c.1922del (p.Lys641fs)
|
|
|
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)
|
rs1963758780
|
|
NM_031885.5(BBS2):c.1932T>G (p.Tyr644Ter)
|
rs1044072013
|
|
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)
|
rs1166717771
|
|
NM_031885.5(BBS2):c.1974T>G (p.Tyr658Ter)
|
rs895581773
|
|
NM_031885.5(BBS2):c.1997_1998del (p.Thr666fs)
|
|
|
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs)
|
rs1555520212
|
|
NM_031885.5(BBS2):c.2059+1G>T
|
rs2144095211
|
|
NM_031885.5(BBS2):c.2104_2110del (p.Ile702fs)
|
rs2144093084
|
|
NM_031885.5(BBS2):c.212_226del (p.Ile71_Val75del)
|
|
|
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)
|
rs121908174
|
|
NM_031885.5(BBS2):c.255del (p.Glu86fs)
|
rs2144193104
|
|
NM_031885.5(BBS2):c.256_278dup (p.Val94fs)
|
rs2144193013
|
|
NM_031885.5(BBS2):c.263del (p.Gly88fs)
|
rs869025206
|
|
NM_031885.5(BBS2):c.307del (p.Tyr103fs)
|
|
|
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter)
|
rs181736797
|
|
NM_031885.5(BBS2):c.362del (p.Asn121fs)
|
|
|
NM_031885.5(BBS2):c.402del (p.Ala136fs)
|
rs1368647604
|
|
NM_031885.5(BBS2):c.416G>T (p.Gly139Val)
|
rs121908181
|
|
NM_031885.5(BBS2):c.437del (p.Gly146fs)
|
rs1170844318
|
|
NM_031885.5(BBS2):c.440del (p.Phe147fs)
|
rs1433422530
|
|
NM_031885.5(BBS2):c.466del (p.Trp156fs)
|
|
|
NM_031885.5(BBS2):c.468del (p.Phe155_Trp156insTer)
|
|
|
NM_031885.5(BBS2):c.471+1G>A
|
rs1555523584
|
|
NM_031885.5(BBS2):c.471+1G>C
|
rs1555523584
|
|
NM_031885.5(BBS2):c.472-2A>G
|
rs137854887
|
|
NM_031885.5(BBS2):c.472del
|
rs587777826
|
|
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter)
|
rs1964558577
|
|
NM_031885.5(BBS2):c.528del (p.Glu178fs)
|
|
|
NM_031885.5(BBS2):c.590_591del (p.Val197fs)
|
|
|
NM_031885.5(BBS2):c.613-1G>C
|
rs2144163316
|
|
NM_031885.5(BBS2):c.613-1G>T
|
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_031885.5(BBS2):c.685dup (p.Tyr229fs)
|
|
|
NM_031885.5(BBS2):c.717+1G>T
|
|
|
NM_031885.5(BBS2):c.717+2T>G
|
rs1555522893
|
|
NM_031885.5(BBS2):c.718-2A>C
|
rs1964413705
|
|
NM_031885.5(BBS2):c.718-2A>G
|
rs1964413705
|
|
NM_031885.5(BBS2):c.774del (p.Asn258fs)
|
rs777218224
|
|
NM_031885.5(BBS2):c.775G>T (p.Glu259Ter)
|
|
|
NM_031885.5(BBS2):c.812del (p.Ala271fs)
|
|
|
NM_031885.5(BBS2):c.892del (p.Arg298fs)
|
rs2144150359
|
|
NM_031885.5(BBS2):c.89_90dup (p.Leu31fs)
|
|
|
NM_031885.5(BBS2):c.916_919del (p.Ile306fs)
|
|
|
NM_031885.5(BBS2):c.940del (p.Ile314fs)
|
rs587777824
|
|
NM_031885.5(BBS2):c.941-1G>C
|
rs777234811
|
|
NM_031885.5(BBS2):c.941-1G>T
|
rs777234811
|
|
NM_031885.5(BBS2):c.941-2A>C
|
rs878962682
|
|
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln)
|
rs544773389
|
|
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys)
|
rs1597016660
|
|
NM_031885.5(BBS2):c.973del (p.Arg325fs)
|
|
|
NM_032898.5(CEP19):c.182dup (p.Tyr61Ter)
|
rs1553794304
|
|
NM_033028.4(BBS4):c.157-?_220+?del
|
|
|
NM_033028.4:r.[118_261del;118_373del]
|
|
|
NM_033028.5(BBS4):c.1016_1017del (p.Glu339fs)
|
|
|
NM_033028.5(BBS4):c.1064_1106+97del
|
|
|
NM_033028.5(BBS4):c.1083C>A (p.Tyr361Ter)
|
|
|
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
|
|
|
NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs)
|
rs2065911287
|
|
NM_033028.5(BBS4):c.1126dup (p.Leu376fs)
|
rs2065911518
|
|
NM_033028.5(BBS4):c.1140_1147del (p.Leu381fs)
|
|
|
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
|
|
|
NM_033028.5(BBS4):c.1203dup (p.Val402fs)
|
|
|
NM_033028.5(BBS4):c.1226del (p.Ser409fs)
|
rs886039800
|
|
NM_033028.5(BBS4):c.1248+1G>A
|
|
|
NM_033028.5(BBS4):c.1248+1G>T
|
rs1419924139
|
|
NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
|
|
|
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
|
|
|
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter)
|
rs2065331681
|
|
NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)
|
|
|
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)
|
rs1281334523
|
|
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
|
|
|
NM_033028.5(BBS4):c.157-1G>T
|
|
|
NM_033028.5(BBS4):c.157-2A>G
|
rs113994192
|
|
NM_033028.5(BBS4):c.157-3C>G
|
rs1567412639
|
|
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)
|
rs886039802
|
|
NM_033028.5(BBS4):c.186_187del (p.Gln63fs)
|
|
|
NM_033028.5(BBS4):c.217del (p.Gln73fs)
|
|
|
NM_033028.5(BBS4):c.220+1G>A
|
|
|
NM_033028.5(BBS4):c.220+1G>C
|
rs113994190
|
|
NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)
|
|
|
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
|
|
|
NM_033028.5(BBS4):c.281del (p.Ala94fs)
|
rs2151023363
|
|
NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
|
|
|
NM_033028.5(BBS4):c.332+2_332+3insTT
|
rs753360929
|
|
NM_033028.5(BBS4):c.341del (p.Leu114fs)
|
rs750258633
|
|
NM_033028.5(BBS4):c.346A>T (p.Lys116Ter)
|
|
|
NM_033028.5(BBS4):c.406-2A>C
|
rs113994191
|
|
NM_033028.5(BBS4):c.406-2A>G
|
rs113994191
|
|
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
|
|
|
NM_033028.5(BBS4):c.435C>A (p.Tyr145Ter)
|
|
|
NM_033028.5(BBS4):c.453_454insGAAC (p.Asn152fs)
|
|
|
NM_033028.5(BBS4):c.458del (p.Lys153fs)
|
|
|
NM_033028.5(BBS4):c.459+1G>A
|
|
|
NM_033028.5(BBS4):c.469del (p.Gln157fs)
|
|
|
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter)
|
rs367882912
|
|
NM_033028.5(BBS4):c.514dup (p.Ile172fs)
|
|
|
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
|
|
|
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
|
|
|
NM_033028.5(BBS4):c.623T>A (p.Leu208Ter)
|
rs1358520224
|
|
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)
|
rs1060503692
|
|
NM_033028.5(BBS4):c.640C>T (p.Gln214Ter)
|
|
|
NM_033028.5(BBS4):c.642+2T>G
|
|
|
NM_033028.5(BBS4):c.656dup (p.Lys220fs)
|
|
|
NM_033028.5(BBS4):c.657del (p.Lys220fs)
|
rs1567427651
|
|
NM_033028.5(BBS4):c.67C>T (p.Gln23Ter)
|
|
|
NM_033028.5(BBS4):c.76+1G>T
|
rs1465437164
|
|
NM_033028.5(BBS4):c.76+2T>C
|
|
|
NM_033028.5(BBS4):c.77-216del
|
rs113994189
|
|
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)
|
rs1459736027
|
|
NM_033028.5(BBS4):c.780_781del (p.Arg260fs)
|
|
|
NM_033028.5(BBS4):c.836_842del (p.Cys279fs)
|
rs2151047525
|
|
NM_033028.5(BBS4):c.87del (p.Pro30fs)
|
|
|
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)
|
rs121434632
|
|
NM_033028.5(BBS4):c.929del (p.Leu310fs)
|
rs889012564
|
|
NM_033028.5(BBS4):c.952C>T (p.Gln318Ter)
|
rs1567430070
|
|
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)
|
rs770891152
|
|
NM_144596.4(TTC8):c.1021C>T (p.Gln341Ter)
|
rs2141033426
|
|
NM_144596.4(TTC8):c.1029_1032dup (p.Ala345fs)
|
|
|
NM_144596.4(TTC8):c.1049+2_1049+4del
|
rs587777807
|
|
NM_144596.4(TTC8):c.106dup (p.Tyr36fs)
|
rs2094691095
|
|
NM_144596.4(TTC8):c.112C>T (p.Gln38Ter)
|
|
|
NM_144596.4(TTC8):c.114+1G>T
|
|
|
NM_144596.4(TTC8):c.114+2T>C
|
rs1273244823
|
|
NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)
|
|
|
NM_144596.4(TTC8):c.266-2A>G
|
rs2140976096
|
|
NM_144596.4(TTC8):c.293del (p.Gly98fs)
|
rs1271312946
|
|
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)
|
rs376035653
|
|
NM_144596.4(TTC8):c.572del (p.Leu191fs)
|
|
|
NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del)
|
rs587777806
|
|
NM_144596.4(TTC8):c.600dup (p.His201fs)
|
|
|
NM_144596.4(TTC8):c.674G>A (p.Trp225Ter)
|
rs2140999501
|
|
NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)
|
|
|
NM_144596.4(TTC8):c.699del (p.Lys233fs)
|
|
|
NM_144596.4(TTC8):c.901_905del (p.Arg300_Ile301insTer)
|
|
|
NM_144596.4(TTC8):c.936del (p.Glu313fs)
|
|
|
NM_152384.2(BBS5):c.925_931del
|
|
|
NM_152384.3(BBS5):c.123del (p.Gly42fs)
|
rs1272140892
|
|
NM_152384.3(BBS5):c.143-1G>A
|
rs1054138918
|
|
NM_152384.3(BBS5):c.164T>C (p.Leu55Ser)
|
|
|
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly)
|
rs1559121920
|
|
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)
|
rs767221160
|
|
NM_152384.3(BBS5):c.198del (p.Val67fs)
|
|
|
NM_152384.3(BBS5):c.1A>G (p.Met1Val)
|
rs536117380
|
|
NM_152384.3(BBS5):c.1A>T (p.Met1Leu)
|
|
|
NM_152384.3(BBS5):c.258+2T>C
|
rs1559122157
|
|
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
|
rs1683515617
|
|
NM_152384.3(BBS5):c.406del (p.Met136fs)
|
rs2105297751
|
|
NM_152384.3(BBS5):c.420dup (p.Lys141Ter)
|
|
|
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)
|
rs1574339529
|
|
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)
|
rs1574339529
|
|
NM_152384.3(BBS5):c.444del (p.Asn149fs)
|
|
|
NM_152384.3(BBS5):c.520C>T (p.Gln174Ter)
|
rs2105297825
|
|
NM_152384.3(BBS5):c.522+3A>G
|
rs587777828
|
|
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)
|
rs121908582
|
|
NM_152384.3(BBS5):c.54dup (p.Ala19fs)
|
|
|
NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn)
|
|
|
NM_152384.3(BBS5):c.556_557delinsTA (p.Arg186Ter)
|
|
|
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs)
|
rs1683644409
|
|
NM_152384.3(BBS5):c.562dup (p.Val188fs)
|
|
|
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)
|
rs1683644662
|
|
NM_152384.3(BBS5):c.58C>T (p.Gln20Ter)
|
|
|
NM_152384.3(BBS5):c.5_8dup (p.Leu4fs)
|
|
|
NM_152384.3(BBS5):c.655del (p.Ala219fs)
|
rs2105300418
|
|
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)
|
rs1471916487
|
|
NM_152384.3(BBS5):c.844G>T (p.Glu282Ter)
|
|
|
NM_152384.3(BBS5):c.925C>T (p.Gln309Ter)
|
rs2105304338
|
|
NM_152384.3(BBS5):c.944_960del (p.Val315fs)
|
|
|
NM_152384.3:c.(?_-60)_(386+1_387-1)del
|
|
|
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
|
|
|
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)
|
rs1553941369
|
|
NM_152618.3(BBS12):c.1048C>T (p.Gln350Ter)
|
rs1375925950
|
|
NM_152618.3(BBS12):c.1069_1097del (p.Val357fs)
|
|
|
NM_152618.3(BBS12):c.1082_1083insGGGT (p.Asp362fs)
|
rs2150736842
|
|
NM_152618.3(BBS12):c.1082del (p.Gly361fs)
|
rs1057517193
|
|
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)
|
rs1800908907
|
|
NM_152618.3(BBS12):c.1088_1089del (p.Leu363fs)
|
rs2150736854
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
NM_152618.3(BBS12):c.1117_1118insT (p.Asn373fs)
|
|
|
NM_152618.3(BBS12):c.1149del (p.Asp383fs)
|
|
|
NM_152618.3(BBS12):c.1151del (p.Ser384fs)
|
rs1553941404
|
|
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter)
|
rs747159816
|
|
NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs)
|
|
|
NM_152618.3(BBS12):c.1188G>A (p.Trp396Ter)
|
|
|
NM_152618.3(BBS12):c.1193dup (p.Asn398fs)
|
rs2150736986
|
|
NM_152618.3(BBS12):c.1204C>T (p.Gln402Ter)
|
|
|
NM_152618.3(BBS12):c.1208dup (p.Leu404fs)
|
|
|
NM_152618.3(BBS12):c.1246G>T (p.Gly416Ter)
|
|
|
NM_152618.3(BBS12):c.1267del (p.Ile423fs)
|
rs1578491135
|
|
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)
|
rs886059058
|
|
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)
|
rs766741204
|
|
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)
|
rs1553941433
|
|
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)
|
rs1195341481
|
|
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs)
|
rs2150737232
|
|
NM_152618.3(BBS12):c.1394_1395del (p.Val465fs)
|
rs2150737232
|
|
NM_152618.3(BBS12):c.1455del (p.Asn485fs)
|
rs2150737331
|
|
NM_152618.3(BBS12):c.1463_1464del (p.Ile488fs)
|
rs2150737344
|
|
NM_152618.3(BBS12):c.1480dup (p.Thr494fs)
|
|
|
NM_152618.3(BBS12):c.1483_1484del (p.Glu495fs)
|
rs587777802
|
|
NM_152618.3(BBS12):c.1515_1518del (p.Asn506fs)
|
|
|
NM_152618.3(BBS12):c.1522_1523insGG (p.Val508fs)
|
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152618.3(BBS12):c.1554del (p.Arg518fs)
|
|
|
NM_152618.3(BBS12):c.1559G>A (p.Trp520Ter)
|
|
|
NM_152618.3(BBS12):c.1577dup (p.Leu526fs)
|
rs1800926856
|
|
NM_152618.3(BBS12):c.1589T>C (p.Leu530Pro)
|
|
|
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)
|
rs755314355
|
|
NM_152618.3(BBS12):c.1616del (p.Gly539fs)
|
|
|
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val)
|
rs1010403072
|
|
NM_152618.3(BBS12):c.1626del (p.Glu543fs)
|
|
|
NM_152618.3(BBS12):c.1627G>A (p.Glu543Lys)
|
rs1800928868
|
|
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)
|
rs2150737598
|
|
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
|
|
|
NM_152618.3(BBS12):c.1673del (p.Leu558fs)
|
|
|
NM_152618.3(BBS12):c.1685del (p.Asn562fs)
|
|
|
NM_152618.3(BBS12):c.168del (p.Glu58fs)
|
|
|
NM_152618.3(BBS12):c.1705del (p.Leu569fs)
|
rs2150737655
|
|
NM_152618.3(BBS12):c.1719del (p.Ser574fs)
|
|
|
NM_152618.3(BBS12):c.1724G>A (p.Trp575Ter)
|
rs2150737680
|
|
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)
|
rs759455327
|
|
NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter)
|
rs1800931751
|
|
NM_152618.3(BBS12):c.1756del (p.Thr586fs)
|
|
|
NM_152618.3(BBS12):c.1786C>T (p.Gln596Ter)
|
|
|
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
|
|
|
NM_152618.3(BBS12):c.1813_1814del (p.Asn605fs)
|
rs764074545
|
|
NM_152618.3(BBS12):c.1816_1817del (p.Thr606fs)
|
|
|
NM_152618.3(BBS12):c.1827C>G (p.Tyr609Ter)
|
rs1800933874
|
|
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)
|
rs1560708847
|
|
NM_152618.3(BBS12):c.189del (p.Ser64fs)
|
rs2150735961
|
|
NM_152618.3(BBS12):c.1918del (p.Tyr640fs)
|
|
|
NM_152618.3(BBS12):c.1920_1921del (p.Tyr640_Ser641delinsTer)
|
|
|
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.2019del (p.Trp673fs)
|
rs2150738027
|
|
NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)
|
|
|
NM_152618.3(BBS12):c.2036del (p.Asp678_Leu679insTer)
|
|
|
NM_152618.3(BBS12):c.2043_2052del (p.Leu681fs)
|
|
|
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter)
|
rs746020725
|
|
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs)
|
rs746478265
|
|
NM_152618.3(BBS12):c.2068dup (p.Ile690fs)
|
|
|
NM_152618.3(BBS12):c.2092_2093del (p.Gln698fs)
|
|
|
NM_152618.3(BBS12):c.2099del (p.Asn700fs)
|
|
|
NM_152618.3(BBS12):c.223del (p.Gln75fs)
|
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_152618.3(BBS12):c.270del (p.Val92fs)
|
rs1173504533
|
|
NM_152618.3(BBS12):c.27_30del (p.Asn9fs)
|
rs2150735761
|
|
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg)
|
rs151344630
|
|
NM_152618.3(BBS12):c.337_339del (p.Val113del)
|
rs587777801
|
|
NM_152618.3(BBS12):c.398del (p.Pro133fs)
|
rs750185673
|
|
NM_152618.3(BBS12):c.420_423del (p.Cys140fs)
|
|
|
NM_152618.3(BBS12):c.422dup (p.Met141fs)
|
rs1800890010
|
|
NM_152618.3(BBS12):c.424dup (p.Asp142fs)
|
rs1553941258
|
|
NM_152618.3(BBS12):c.427del (p.Ser143fs)
|
|
|
NM_152618.3(BBS12):c.469_470del (p.Leu157fs)
|
rs2150736228
|
|
NM_152618.3(BBS12):c.476del (p.Pro159fs)
|
|
|
NM_152618.3(BBS12):c.49dup (p.Gln17fs)
|
rs756061536
|
|
NM_152618.3(BBS12):c.572_576del (p.Gly191fs)
|
|
|
NM_152618.3(BBS12):c.58del (p.Ser20fs)
|
rs2150735809
|
|
NM_152618.3(BBS12):c.590_591del (p.Ser196_Tyr197insTer)
|
rs1560706958
|
|
NM_152618.3(BBS12):c.655_658del (p.Ser219fs)
|
|
|
NM_152618.3(BBS12):c.670dup (p.Thr224fs)
|
rs1339432710
|
|
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)
|
rs769588983
|
|
NM_152618.3(BBS12):c.683del (p.Gln228fs)
|
rs2150736424
|
|
NM_152618.3(BBS12):c.694dup (p.Ile232fs)
|
rs2150736431
|
|
NM_152618.3(BBS12):c.695_731del (p.Ile232fs)
|
|
|
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.787dup (p.Tyr263fs)
|
rs1553941312
|
|
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)
|
rs974173261
|
|
NM_152618.3(BBS12):c.80del (p.Arg27fs)
|
|
|
NM_152618.3(BBS12):c.867_874del (p.Val290fs)
|
rs2150736605
|
|
NM_152618.3(BBS12):c.869_873del (p.Val290fs)
|
rs1283655166
|
|
NM_152618.3(BBS12):c.890_893del (p.Ala297fs)
|
rs2150736616
|
|
NM_152618.3(BBS12):c.911_912del (p.Cys304fs)
|
rs2150736648
|
|
NM_152618.3(BBS12):c.925_926del (p.Met309fs)
|
rs1800904262
|
|
NM_152618.3(BBS12):c.940A>G (p.Arg314Gly)
|
rs749107412
|
|
NM_152618.3(BBS12):c.95del (p.Pro32fs)
|
|
|
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter)
|
rs1554558363
|
|
NM_170784.3(MKKS):c.-41_985+60del
|
|
|
NM_170784.3(MKKS):c.1013C>A (p.Ser338Ter)
|
rs2122226112
|
|
NM_170784.3(MKKS):c.1118del (p.Leu373fs)
|
|
|
NM_170784.3(MKKS):c.1149G>A (p.Trp383Ter)
|
|
|
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)
|
rs1270369106
|
|
NM_170784.3(MKKS):c.1181del (p.Leu394fs)
|
rs2122223967
|
|
NM_170784.3(MKKS):c.1190del (p.Leu397fs)
|
|
|
NM_170784.3(MKKS):c.1225_1226del (p.Gly409fs)
|
rs1421664374
|
|
NM_170784.3(MKKS):c.1272+1G>A
|
rs755716827
|
|
NM_170784.3(MKKS):c.1272+2T>C
|
|
|
NM_170784.3(MKKS):c.1291_1337del (p.Ser431fs)
|
rs2122220131
|
|
NM_170784.3(MKKS):c.1351dup (p.Cys451fs)
|
|
|
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
|
|
|
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
|
|
|
NM_170784.3(MKKS):c.1478del (p.Leu493fs)
|
rs1568662687
|
|
NM_170784.3(MKKS):c.172_175dup (p.Gln59fs)
|
rs1600849412
|
|
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter)
|
rs1334961999
|
|
NM_170784.3(MKKS):c.175_176del (p.Gln59fs)
|
rs2122236167
|
|
NM_170784.3(MKKS):c.221del (p.Ile73_Leu74insTer)
|
|
|
NM_170784.3(MKKS):c.257C>A (p.Ser86Ter)
|
|
|
NM_170784.3(MKKS):c.281del (p.Phe94fs)
|
rs587777827
|
|
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg)
|
rs1297985227
|
|
NM_170784.3(MKKS):c.2T>A (p.Met1Lys)
|
|
|
NM_170784.3(MKKS):c.2T>G (p.Met1Arg)
|
|
|
NM_170784.3(MKKS):c.36dup (p.Lys13Ter)
|
|
|
NM_170784.3(MKKS):c.372_373insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAACATCTTTTG (p.Ser125delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_170784.3(MKKS):c.375_381dup (p.Ile128fs)
|
rs2122235619
|
|
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)
|
rs2122235362
|
|
NM_170784.3(MKKS):c.431_441del (p.Phe144fs)
|
rs113994195
|
|
NM_170784.3(MKKS):c.432_435del (p.Phe144fs)
|
rs1225932577
|
|
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
|
|
|
NM_170784.3(MKKS):c.456_459del (p.Cys152fs)
|
|
|
NM_170784.3(MKKS):c.47del (p.Pro16fs)
|
rs1224308508
|
|
NM_170784.3(MKKS):c.492T>A (p.Cys164Ter)
|
rs1568666460
|
|
NM_170784.3(MKKS):c.515_516del (p.Glu172fs)
|
rs2064904675
|
|
NM_170784.3(MKKS):c.613A>T (p.Lys205Ter)
|
rs1555802009
|
|
NM_170784.3(MKKS):c.63_64del (p.Arg21fs)
|
rs754066841
|
|
NM_170784.3(MKKS):c.676C>T (p.Gln226Ter)
|
rs2122234652
|
|
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
|
|
|
NM_170784.3(MKKS):c.763dup (p.Thr255fs)
|
rs2122234387
|
|
NM_170784.3(MKKS):c.775del (p.Thr259fs)
|
rs759131391
|
|
NM_170784.3(MKKS):c.792T>A (p.Tyr264Ter)
|
rs74315397
|
|
NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter)
|
rs74315397
|
|
NM_170784.3(MKKS):c.867dup (p.Leu290fs)
|
rs2122234051
|
|
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs)
|
rs113994196
|
|
NM_170784.3(MKKS):c.885dup (p.Val296fs)
|
|
|
NM_170784.3(MKKS):c.889dup (p.Ile297fs)
|
rs2122233990
|
|
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.958_959del (p.Leu320fs)
|
rs770908659
|
|
NM_170784.3(MKKS):c.966del (p.Glu322fs)
|
|
|
NM_170784.3(MKKS):c.97del (p.Ile32_Val33insTer)
|
rs2122236468
|
|
NM_176824.3(BBS7):c.1002del (p.Asn335fs)
|
rs762782183
|
|
NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter)
|
rs1726067442
|
|
NM_176824.3(BBS7):c.1042G>T (p.Glu348Ter)
|
|
|
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)
|
rs773139166
|
|
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs)
|
rs577434138
|
|
NM_176824.3(BBS7):c.1093_1094del (p.Gln365fs)
|
rs2149068932
|
|
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs)
|
rs1725961307
|
|
NM_176824.3(BBS7):c.1250del (p.Leu417fs)
|
rs2149066862
|
|
NM_176824.3(BBS7):c.1306-1_1308del
|
|
|
NM_176824.3(BBS7):c.133dup (p.Met45fs)
|
|
|
NM_176824.3(BBS7):c.1378del (p.Ser460fs)
|
|
|
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter)
|
rs991365297
|
|
NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)
|
|
|
NM_176824.3(BBS7):c.1453C>T (p.Gln485Ter)
|
|
|
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter)
|
rs1470030897
|
|
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs)
|
rs1725388372
|
|
NM_176824.3(BBS7):c.1497dup (p.Ile500fs)
|
|
|
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
|
|
|
NM_176824.3(BBS7):c.1510A>T (p.Arg504Ter)
|
rs1725385758
|
|
NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
|
|
|
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)
|
rs587777836
|
|
NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter)
|
rs1394015094
|
|
NM_176824.3(BBS7):c.1659del (p.Gln553fs)
|
|
|
NM_176824.3(BBS7):c.1663G>T (p.Glu555Ter)
|
rs2149054103
|
|
NM_176824.3(BBS7):c.1668_1669delinsAT (p.Ser556_Thr557delinsArgSer)
|
|
|
NM_176824.3(BBS7):c.1677-2A>G
|
|
|
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)
|
rs878853352
|
|
NM_176824.3(BBS7):c.173dup (p.Lys59fs)
|
|
|
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
|
|
|
NM_176824.3(BBS7):c.1891-1G>A
|
rs2149048173
|
|
NM_176824.3(BBS7):c.1897C>T (p.Gln633Ter)
|
|
|
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.288_289del (p.Gly97fs)
|
|
|
NM_176824.3(BBS7):c.386dup (p.Tyr129Ter)
|
|
|
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)
|
rs863224530
|
|
NM_176824.3(BBS7):c.399dup (p.Asp134Ter)
|
|
|
NM_176824.3(BBS7):c.423C>A (p.Tyr141Ter)
|
|
|
NM_176824.3(BBS7):c.488del (p.Pro163fs)
|
rs2149084861
|
|
NM_176824.3(BBS7):c.497C>T (p.Ala166Val)
|
rs1341540567
|
|
NM_176824.3(BBS7):c.500_501insTATGAG (p.Cys167_Gln168insMetSer)
|
rs1578564877
|
|
NM_176824.3(BBS7):c.502C>T (p.Gln168Ter)
|
|
|
NM_176824.3(BBS7):c.529-1dup
|
rs1726566546
|
|
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs)
|
rs1553933472
|
|
NM_176824.3(BBS7):c.569dup (p.Thr191fs)
|
|
|
NM_176824.3(BBS7):c.580_582del (p.Ala194del)
|
|
|
NM_176824.3(BBS7):c.585dup (p.His196fs)
|
|
|
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
|
|
|
NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)
|
|
|
NM_176824.3(BBS7):c.68_77del (p.Leu23fs)
|
|
|
NM_176824.3(BBS7):c.690G>A (p.Trp230Ter)
|
|
|
NM_176824.3(BBS7):c.709_712del (p.Lys237fs)
|
rs587777812
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_176824.3(BBS7):c.719G>T (p.Gly240Val)
|
|
|
NM_176824.3(BBS7):c.72del (p.Pro25fs)
|
|
|
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter)
|
rs1560658189
|
|
NM_176824.3(BBS7):c.785_786del (p.Asp262fs)
|
|
|
NM_176824.3(BBS7):c.87_88del (p.His29fs)
|
rs1578577361
|
|
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg)
|
rs1726157542
|
|
NM_176824.3(BBS7):c.90_91del (p.Arg30fs)
|
|
|
NM_176824.3(BBS7):c.949C>G (p.Leu317Val)
|
rs869025207
|
|
NM_177965.4(CFAP418):c.124del (p.Arg42fs)
|
rs1563477144
|
|
NM_198309.3:c.(768+1_769-1)_(879+1_880-1)del
|
|
|
NM_198428.2(BBS9):c.(?_-1)_328+?del
|
|
|
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
|
|
|
NM_198428.3(BBS9):c.1027G>T (p.Gly343Ter)
|
|
|
NM_198428.3(BBS9):c.104_112+4del
|
rs869025208
|
|
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)
|
rs137852858
|
|
NM_198428.3(BBS9):c.1099C>T (p.Gln367Ter)
|
|
|
NM_198428.3(BBS9):c.113-2A>G
|
rs1562686929
|
|
NM_198428.3(BBS9):c.1195C>T (p.Gln399Ter)
|
|
|
NM_198428.3(BBS9):c.1277_1280del
|
rs2128646927
|
|
NM_198428.3(BBS9):c.1283_1286del (p.Thr428fs)
|
|
|
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter)
|
rs863224534
|
|
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)
|
rs2128667543
|
|
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter)
|
rs1401715737
|
|
NM_198428.3(BBS9):c.1624A>T (p.Lys542Ter)
|
|
|
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)
|
rs746797123
|
|
NM_198428.3(BBS9):c.1789+1G>A
|
rs201938124
|
|
NM_198428.3(BBS9):c.1789+1G>C
|
|
|
NM_198428.3(BBS9):c.1789+1G>T
|
rs201938124
|
|
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)
|
rs948418225
|
|
NM_198428.3(BBS9):c.1812del (p.Glu604fs)
|
rs1229015450
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|
NM_198428.3(BBS9):c.1999_2003del (p.Ser667fs)
|
|
|
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs)
|
rs1266192229
|
|
NM_198428.3(BBS9):c.2023del (p.Ala675fs)
|
|
|
NM_198428.3(BBS9):c.2045dup (p.Arg683fs)
|
rs587777810
|
|
NM_198428.3(BBS9):c.2097dup (p.Asp700fs)
|
rs2128756914
|
|
NM_198428.3(BBS9):c.2115+1G>A
|
rs886039801
|
|
NM_198428.3(BBS9):c.2223_2224delinsTT (p.Trp741_Gln742delinsCysTer)
|
|
|
NM_198428.3(BBS9):c.2245_2260del (p.Val749fs)
|
|
|
NM_198428.3(BBS9):c.2368G>T (p.Glu790Ter)
|
|
|
NM_198428.3(BBS9):c.244del (p.Glu82fs)
|
rs2128108391
|
|
NM_198428.3(BBS9):c.2503_2504dup (p.Gln835fs)
|
|
|
NM_198428.3(BBS9):c.2536del (p.Ile846fs)
|
rs1864348159
|
|
NM_198428.3(BBS9):c.2559_2562del (p.Glu853fs)
|
|
|
NM_198428.3(BBS9):c.263+1G>T
|
rs137962929
|
|
NM_198428.3(BBS9):c.263+4A>G
|
rs370916293
|
|
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter)
|
rs749974697
|
|
NM_198428.3(BBS9):c.27G>A (p.Trp9Ter)
|
|
|
NM_198428.3(BBS9):c.310del (p.Cys104fs)
|
rs747388658
|
|
NM_198428.3(BBS9):c.319dup (p.Ser107fs)
|
|
|
NM_198428.3(BBS9):c.358C>T (p.Gln120Ter)
|
|
|
NM_198428.3(BBS9):c.408C>A (p.Cys136Ter)
|
|
|
NM_198428.3(BBS9):c.421G>A (p.Gly141Arg)
|
rs137852857
|
|
NM_198428.3(BBS9):c.434del (p.Gly145fs)
|
|
|
NM_198428.3(BBS9):c.459C>A (p.Cys153Ter)
|
|
|
NM_198428.3(BBS9):c.542C>G (p.Pro181Arg)
|
rs779588488
|
|
NM_198428.3(BBS9):c.621_702+3del
|
|
|
NM_198428.3(BBS9):c.702+1G>A
|
rs2128325966
|
|
NM_198428.3(BBS9):c.727G>A (p.Glu243Lys)
|
rs1562917450
|
|
NM_198428.3(BBS9):c.751dup (p.Val251fs)
|
rs2128344662
|
|
NM_198428.3(BBS9):c.754del (p.Ser252fs)
|
rs2128344706
|
|
NM_198428.3(BBS9):c.763C>T (p.Gln255Ter)
|
|
|
NM_198428.3(BBS9):c.801_803del (p.Phe269del)
|
rs780367770
|
|
NM_198428.3(BBS9):c.808dup (p.Cys270fs)
|
|
|
NM_198428.3(BBS9):c.829del (p.Ile277fs)
|
|
|
NM_198428.3(BBS9):c.839dup (p.Met280fs)
|
|
|
NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer)
|
rs2128345173
|
|
NM_198428.3(BBS9):c.956del (p.Thr319fs)
|
rs886039799
|
|
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
|
|
|
Single allele
|
|
|