NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
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_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
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_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
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_176824.3(BBS7):c.632C>T (p.Thr211Ile)
|
rs119466002
|
0.00006
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
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_024649.5(BBS1):c.1339G>A (p.Ala447Thr)
|
rs200116631
|
0.00003
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
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.712-1G>A
|
rs377031435
|
0.00003
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
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_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
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.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_198428.3(BBS9):c.223C>T (p.Arg75Ter)
|
rs775081992
|
0.00002
|
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_024649.5(BBS1):c.1447C>T (p.Arg483Ter)
|
rs745656125
|
0.00001
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
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.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.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.504del (p.Leu168fs)
|
rs1224014742
|
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_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
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.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter)
|
rs754448484
|
0.00001
|
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter)
|
rs753180214
|
0.00001
|
NM_170784.3(MKKS):c.380del (p.Cys127fs)
|
rs867346158
|
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_176824.3(BBS7):c.728G>A (p.Cys243Tyr)
|
rs727503821
|
0.00001
|
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)
|
rs151275562
|
0.00001
|
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)
|
rs998200637
|
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.263+1G>A
|
rs137962929
|
0.00001
|
NM_198428.3(BBS9):c.442+1G>C
|
rs587777811
|
0.00001
|
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
|
rs767005321
|
0.00001
|
NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter)
|
rs2037147164
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
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_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
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.382C>T (p.Gln128Ter)
|
rs2134771570
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024649.5(BBS1):c.48-1G>A
|
rs751753112
|
|
NM_024649.5(BBS1):c.480-1G>C
|
rs1057516933
|
|
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer)
|
rs2134780429
|
|
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)
|
rs778850233
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+1G>T
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+58C>T
|
rs1856346961
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
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.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)
|
rs886043841
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
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.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
|
|
|
NM_024685.4(BBS10):c.2030del (p.Gly677fs)
|
rs1064796315
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)
|
rs2136091244
|
|
NM_024685.4(BBS10):c.39_46del (p.Ala14fs)
|
rs1555202806
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)
|
rs1476664656
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)
|
rs2136091654
|
|
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.1451del (p.Lys484fs)
|
rs386834149
|
|
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
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NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)
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rs1223251937
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NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)
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NM_025114.4(CEP290):c.270_274del (p.Lys90fs)
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NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter)
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rs1180594304
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NM_025114.4(CEP290):c.3012del (p.Glu1005fs)
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rs1555213204
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NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
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rs62640570
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NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
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rs62640570
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NM_025114.4(CEP290):c.3310-1G>A
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NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)
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NM_025114.4(CEP290):c.3422dup (p.Leu1141fs)
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rs770474857
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NM_025114.4(CEP290):c.369del (p.Gln123fs)
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rs773622064
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NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
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rs62640581
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NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)
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rs2036824785
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NM_025114.4(CEP290):c.384_385del (p.Asp128fs)
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rs1288619268
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NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
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rs386834157
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NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
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rs761907569
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NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
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rs587783016
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NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
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rs1213286417
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NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)
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rs1339975972
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NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs)
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rs62640582
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NM_025114.4(CEP290):c.4384del (p.Glu1462fs)
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rs863225182
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NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
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rs780624853
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NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
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rs757309583
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NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
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rs62640574
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NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs)
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rs2036318355
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NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)
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NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
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rs764309755
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NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)
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NM_025114.4(CEP290):c.5046del (p.Lys1682_Val1683insTer)
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NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs)
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rs757609119
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NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs)
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rs749331348
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NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
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rs386834158
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NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs)
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rs281865187
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NM_025114.4(CEP290):c.5519_5537del (p.Lys1840fs)
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NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
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rs727503853
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NM_025114.4(CEP290):c.5709+2T>G
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NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)
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NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
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rs778030031
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NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
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rs1592784618
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NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
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rs62638180
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NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)
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NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
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rs386834159
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NM_025114.4(CEP290):c.6271-8T>G
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rs1039146791
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NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
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rs758329611
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NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
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NM_025114.4(CEP290):c.679_680del (p.Glu227fs)
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rs62640578
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NM_025114.4(CEP290):c.6869del (p.Asn2290fs)
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rs587783017
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NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
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rs587783017
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NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)
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rs1592726020
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NM_025114.4(CEP290):c.7027del (p.Val2343fs)
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rs2033827549
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NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
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rs2138086844
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NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
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rs747138345
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NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
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rs747138345
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NM_025114.4(CEP290):c.7334dup (p.Leu2448fs)
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NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
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rs281865189
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NM_025114.4(CEP290):c.828del (p.Glu277fs)
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rs1555225566
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NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
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rs45502896
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NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
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rs193922710
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NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
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rs1964267396
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NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)
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rs1555521501
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NM_031885.5(BBS2):c.1770del (p.Phe590fs)
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rs193922711
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NM_031885.5(BBS2):c.263del (p.Gly88fs)
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rs869025206
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NM_031885.5(BBS2):c.471+1G>A
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rs1555523584
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NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
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rs773417074
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NM_031885.5(BBS2):c.661del (p.Leu221fs)
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rs770258677
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NM_031885.5(BBS2):c.940del (p.Ile314fs)
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rs587777824
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NM_031885.5(BBS2):c.941-1G>T
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rs777234811
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NM_033028.5(BBS4):c.1248+2T>C
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rs2151055229
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NM_033028.5(BBS4):c.157-2A>G
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rs113994192
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NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)
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rs886039802
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NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
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NM_033028.5(BBS4):c.332+2_332+3insTT
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rs753360929
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NM_033028.5(BBS4):c.514dup (p.Ile172fs)
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|
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NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)
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rs1471916487
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NM_152618.3(BBS12):c.1082del (p.Gly361fs)
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rs1057517193
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NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
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rs587777803
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NM_152618.3(BBS12):c.1372dup (p.Thr458fs)
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rs1195341481
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NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)
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rs755314355
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NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)
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rs2150737598
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NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)
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rs759455327
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NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter)
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rs1800931751
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NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)
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rs1560708847
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NM_152618.3(BBS12):c.2019del (p.Trp673fs)
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rs2150738027
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NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
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rs1397714772
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NM_152618.3(BBS12):c.695_731del (p.Ile232fs)
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|
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NM_170784.3(MKKS):c.775del (p.Thr259fs)
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rs759131391
|
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NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter)
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rs74315397
|
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NM_176824.3(BBS7):c.1002del (p.Asn335fs)
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rs762782183
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NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter)
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rs1726067442
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NM_176824.3(BBS7):c.1306-1_1308del
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|
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NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)
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|
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NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
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|
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NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)
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rs878853352
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NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)
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rs672601379
|
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NM_176824.3(BBS7):c.288_289del (p.Gly97fs)
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|
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NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
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rs760165634
|
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NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)
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rs137852858
|
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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.1789+1G>A
|
rs201938124
|
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NM_198428.3(BBS9):c.1789+1G>C
|
|
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NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)
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rs948418225
|
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NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
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rs606231137
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NM_198428.3(BBS9):c.310del (p.Cys104fs)
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rs747388658
|
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