NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)
|
rs17089782
|
0.00771
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)
|
rs138410949
|
0.00203
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)
|
rs374144275
|
0.00019
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)
|
rs759799287
|
0.00011
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)
|
rs141744337
|
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_001329943.3(KIAA0586):c.1254-1G>C
|
rs757350052
|
0.00008
|
NM_001378615.1(CC2D2A):c.1017+1G>A
|
rs200407856
|
0.00008
|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)
|
rs267606709
|
0.00006
|
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)
|
rs530569572
|
0.00006
|
NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter)
|
rs776886962
|
0.00006
|
NM_001384732.1(CPLANE1):c.2831G>A (p.Arg944His)
|
rs863225165
|
0.00006
|
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)
|
rs139675596
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)
|
rs386834202
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_001258244.2(TMEM218):c.175C>T (p.Arg59Ter)
|
rs758805438
|
0.00005
|
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His)
|
rs752300607
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)
|
rs863225147
|
0.00004
|
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)
|
rs150433582
|
0.00004
|
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)
|
rs375113643
|
0.00004
|
NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter)
|
rs863225163
|
0.00004
|
NM_001384732.1(CPLANE1):c.2611C>T (p.Arg871Cys)
|
rs760906097
|
0.00004
|
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)
|
rs141507441
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)
|
rs372659908
|
0.00003
|
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
|
rs755459875
|
0.00003
|
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser)
|
rs758972393
|
0.00003
|
NM_001286577.2(C2CD3):c.5267G>A (p.Gly1756Glu)
|
rs150291837
|
0.00003
|
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)
|
rs386833752
|
0.00003
|
NM_001384732.1(CPLANE1):c.2923C>T (p.Gln975Ter)
|
rs863225166
|
0.00003
|
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met)
|
rs373704405
|
0.00003
|
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu)
|
rs863225201
|
0.00003
|
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)
|
rs121918129
|
0.00003
|
NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr)
|
rs757222534
|
0.00003
|
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu)
|
rs746867724
|
0.00003
|
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
NM_001044385.3(TMEM237):c.943+1G>T
|
rs748510210
|
0.00002
|
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)
|
rs863225138
|
0.00002
|
NM_001258244.2(TMEM218):c.239G>A (p.Arg80His)
|
rs575689990
|
0.00002
|
NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)
|
rs370676288
|
0.00002
|
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=)
|
rs540255320
|
0.00002
|
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)
|
rs770566897
|
0.00002
|
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)
|
rs750247691
|
0.00002
|
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)
|
rs760918829
|
0.00002
|
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)
|
rs779823379
|
0.00002
|
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter)
|
rs771203308
|
0.00002
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)
|
rs147416429
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)
|
rs778533826
|
0.00002
|
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)
|
rs745688122
|
0.00002
|
NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys)
|
rs771170000
|
0.00002
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
0.00002
|
NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met)
|
rs863225198
|
0.00002
|
NM_019892.6(INPP5E):c.1760del (p.Val587fs)
|
rs775518991
|
0.00002
|
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu)
|
rs754637179
|
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.6277del (p.Val2093fs)
|
rs771454167
|
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_001134831.2(AHI1):c.1152-2A>G
|
rs753085250
|
0.00001
|
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)
|
rs863225143
|
0.00001
|
NM_001134831.2(AHI1):c.1626+1G>A
|
rs863225137
|
0.00001
|
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)
|
rs541041911
|
0.00001
|
NM_001134831.2(AHI1):c.2172del (p.Trp725fs)
|
rs755407014
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)
|
rs863225135
|
0.00001
|
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)
|
rs368788993
|
0.00001
|
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)
|
rs863225142
|
0.00001
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
NM_001286577.2(C2CD3):c.184C>T (p.Arg62Ter)
|
rs587777653
|
0.00001
|
NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys)
|
rs753432312
|
0.00001
|
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)
|
rs780265931
|
0.00001
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)
|
rs118204053
|
0.00001
|
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
|
rs773881370
|
0.00001
|
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala)
|
rs863225173
|
0.00001
|
NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala)
|
rs863225170
|
0.00001
|
NM_001378615.1(CC2D2A):c.3594+5G>A
|
rs863225181
|
0.00001
|
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)
|
rs763486732
|
0.00001
|
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
|
rs118204052
|
0.00001
|
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val)
|
rs778858648
|
0.00001
|
NM_001378615.1(CC2D2A):c.4741A>G (p.Thr1581Ala)
|
rs863225174
|
0.00001
|
NM_001382391.1(CSPP1):c.1697+1G>T
|
rs863225193
|
0.00001
|
NM_001384732.1(CPLANE1):c.2999G>T (p.Trp1000Leu)
|
rs773362418
|
0.00001
|
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)
|
rs749523755
|
0.00001
|
NM_001384732.1(CPLANE1):c.817A>C (p.Asn273His)
|
rs863225167
|
0.00001
|
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs)
|
rs1554064102
|
0.00001
|
NM_001384732.1(CPLANE1):c.8770G>T (p.Glu2924Ter)
|
rs863225155
|
0.00001
|
NM_001384732.1(CPLANE1):c.9017+1G>A
|
rs863225154
|
0.00001
|
NM_003611.3(OFD1):c.149A>G (p.His50Arg)
|
rs863225213
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)
|
rs145665129
|
0.00001
|
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)
|
rs587777079
|
0.00001
|
NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val)
|
rs768950892
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)
|
rs780882740
|
0.00001
|
NM_019892.6(INPP5E):c.907G>A (p.Val303Met)
|
rs746212325
|
0.00001
|
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg)
|
rs187433682
|
0.00001
|
NM_024809.5(TCTN2):c.1626del (p.Asp543fs)
|
rs863225220
|
0.00001
|
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)
|
rs201010803
|
0.00001
|
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)
|
rs748034744
|
0.00001
|
NM_025114.4(CEP290):c.3185del (p.Leu1062fs)
|
rs863225189
|
0.00001
|
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)
|
rs371525247
|
0.00001
|
NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)
|
rs757863670
|
0.00001
|
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu)
|
rs863225232
|
0.00001
|
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)
|
rs863225235
|
0.00001
|
NM_153704.6(TMEM67):c.1126C>G (p.Gln376Glu)
|
rs863225231
|
0.00001
|
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)
|
rs116647652
|
0.00001
|
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)
|
rs267607115
|
0.00001
|
NM_153704.6(TMEM67):c.2322+2dup
|
rs386834192
|
0.00001
|
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)
|
rs797046045
|
0.00001
|
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)
|
rs751309268
|
0.00001
|
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln)
|
rs750950408
|
0.00001
|
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)
|
rs386834205
|
0.00001
|
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)
|
rs775883520
|
0.00001
|
NM_153704.6(TMEM67):c.769A>G (p.Met257Val)
|
rs863225227
|
0.00001
|
NM_198525.3(KIF7):c.2944G>T (p.Glu982Ter)
|
rs797045093
|
0.00001
|
2q13 deletion
|
|
|
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)
|
rs387907131
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001082538.3(TCTN1):c.342-2A>G
|
rs730882221
|
|
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly)
|
rs863225133
|
|
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)
|
rs371637724
|
|
NM_001134831.2(AHI1):c.1614del (p.Val539fs)
|
rs863225141
|
|
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC
|
rs863225148
|
|
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs)
|
rs863225132
|
|
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter)
|
rs764412921
|
|
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)
|
rs772989270
|
|
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn)
|
rs863225145
|
|
NM_001134831.2(AHI1):c.2036+1G>T
|
rs776093293
|
|
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs)
|
rs863225136
|
|
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)
|
rs863225134
|
|
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)
|
rs863225144
|
|
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs)
|
rs863225140
|
|
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)
|
rs863225139
|
|
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)
|
rs863225146
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)
|
rs753874898
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter)
|
rs121912607
|
|
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)
|
rs121912608
|
|
NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly)
|
rs863225149
|
|
NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val)
|
rs1950967763
|
|
NM_001286577.2(C2CD3):c.4951+1G>T
|
rs863225151
|
|
NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)
|
rs1885329722
|
|
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)
|
rs368448387
|
|
NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)
|
rs1463041654
|
|
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)
|
rs759684383
|
|
NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter)
|
rs745704336
|
|
NM_001308120.2:c.2339_3238del
|
|
|
NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter)
|
rs796052128
|
|
NM_001329943.3(KIAA0586):c.1271_1274delinsGA (p.Glu424fs)
|
rs869312856
|
|
NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val)
|
rs796052129
|
|
NM_001329943.3(KIAA0586):c.1571_1575del (p.Leu524fs)
|
rs863225203
|
|
NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter)
|
rs201097695
|
|
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser)
|
rs759799287
|
|
NM_001352754.2(ARMC9):c.1211-434_1335-1595delinsGTTTGTTTGTTTGTTTGCATTA
|
|
|
NM_001352754.2(ARMC9):c.1474+1G>C
|
rs1114167448
|
|
NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu)
|
rs1114167449
|
|
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter)
|
rs372770167
|
|
NM_001352754.2(ARMC9):c.51+5G>T
|
rs1114167447
|
|
NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg)
|
rs762998472
|
|
NM_001378615.1(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn)
|
rs863225177
|
|
NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro)
|
rs754221308
|
|
NM_001378615.1(CC2D2A):c.2624C>A (p.Ser875Ter)
|
rs200904521
|
|
NM_001378615.1(CC2D2A):c.2671G>A (p.Glu891Lys)
|
rs863225178
|
|
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His)
|
rs863225169
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs)
|
rs863225171
|
|
NM_001378615.1(CC2D2A):c.3772-1G>T
|
rs863225172
|
|
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)
|
rs386833757
|
|
NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs)
|
rs763735590
|
|
NM_001378615.1(CC2D2A):c.3975+4_3975+7del
|
rs386833759
|
|
NM_001378615.1(CC2D2A):c.3976-3C>A
|
rs576298659
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)
|
rs863225176
|
|
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)
|
rs863225168
|
|
NM_001378615.1(CC2D2A):c.4491A>C (p.Gln1497His)
|
rs863225179
|
|
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs)
|
rs863225175
|
|
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)
|
rs374703898
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs)
|
rs587777140
|
|
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs)
|
rs761382780
|
|
NM_001382391.1(CSPP1):c.2463_2469del (p.Glu822fs)
|
rs863225191
|
|
NM_001382391.1(CSPP1):c.2463_2469dup (p.Glu824fs)
|
rs863225191
|
|
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs)
|
rs587777143
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs)
|
rs863225190
|
|
NM_001382391.1(CSPP1):c.2968+1G>A
|
rs587777142
|
|
NM_001382391.1(CSPP1):c.3220+1G>A
|
rs773954226
|
|
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter)
|
rs587777141
|
|
NM_001382391.1(CSPP1):c.430del (p.Arg144fs)
|
rs863225192
|
|
NM_001382391.1(CSPP1):c.923+1G>C
|
rs863225194
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.2275C>T (p.Gln759Ter)
|
rs863225158
|
|
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter)
|
rs863225164
|
|
NM_001384732.1(CPLANE1):c.3007G>T (p.Glu1003Ter)
|
rs863225162
|
|
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs)
|
rs863225161
|
|
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val)
|
rs141153181
|
|
NM_001384732.1(CPLANE1):c.3636_3637del (p.Leu1213fs)
|
rs863225157
|
|
NM_001384732.1(CPLANE1):c.510del (p.Leu171fs)
|
rs779680371
|
|
NM_001384732.1(CPLANE1):c.510dup (p.Leu171fs)
|
rs779680371
|
|
NM_001384732.1(CPLANE1):c.6269_6270del (p.Val2090fs)
|
rs768675259
|
|
NM_001384732.1(CPLANE1):c.7190del (p.Pro2397fs)
|
rs863225156
|
|
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)
|
rs863225159
|
|
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)
|
rs730882217
|
|
NM_001384732.1(CPLANE1):c.8329C>T (p.Gln2777Ter)
|
rs863225152
|
|
NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs)
|
rs775263897
|
|
NM_001384732.1(CPLANE1):c.8878G>T (p.Glu2960Ter)
|
rs863225153
|
|
NM_001384732.1(CPLANE1):c.8887del (p.Ala2963fs)
|
rs770758833
|
|
NM_001384732.1(CPLANE1):c.9017+1G>T
|
rs863225154
|
|
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)
|
rs863225212
|
|
NM_003611.3(OFD1):c.2767del (p.Glu923fs)
|
rs312262894
|
|
NM_003611.3(OFD1):c.277G>T (p.Val93Phe)
|
rs863225211
|
|
NM_006346.4(PIBF1):c.1669del (p.Leu557fs)
|
rs863225214
|
|
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)
|
rs863225217
|
|
NM_015272.5(RPGRIP1L):c.1243+1G>A
|
rs863225218
|
|
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)
|
rs778149316
|
|
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)
|
rs863225216
|
|
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)
|
rs267607020
|
|
NM_015272.5(RPGRIP1L):c.2305-1G>A
|
rs863225215
|
|
NM_015272.5(RPGRIP1L):c.3701+1G>T
|
rs863225219
|
|
NM_015681.6(B9D1):c.285C>A (p.Phe95Leu)
|
rs373478202
|
|
NM_015681.6(B9D1):c.466C>T (p.Arg156Trp)
|
rs369488112
|
|
NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs)
|
rs1135401749
|
|
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)
|
rs387907133
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1261C>T (p.Pro421Ser)
|
rs863225210
|
|
NM_017777.4(MKS1):c.1389G>T (p.Arg463=)
|
rs773269657
|
|
NM_017777.4(MKS1):c.1528dup (p.Arg510fs)
|
rs863225204
|
|
NM_017777.4(MKS1):c.1589-2A>T
|
rs863225207
|
|
NM_017777.4(MKS1):c.262-179_262-37del
|
rs1555600644
|
|
NM_017777.4(MKS1):c.381del (p.Tyr128fs)
|
rs863225206
|
|
NM_017777.4(MKS1):c.55G>T (p.Asp19Tyr)
|
rs863225205
|
|
NM_017777.4(MKS1):c.767_768insC (p.Glu256fs)
|
rs863225209
|
|
NM_017777.4(MKS1):c.950G>A (p.Gly317Glu)
|
rs863225208
|
|
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr)
|
rs863225200
|
|
NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro)
|
rs863225202
|
|
NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly)
|
rs863225197
|
|
NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs)
|
rs863225199
|
|
NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter)
|
rs863225221
|
|
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys)
|
rs201827132
|
|
NM_024809.5(TCTN2):c.76del (p.Asp26fs)
|
rs863225222
|
|
NM_024809.5(TCTN2):c.76dup (p.Asp26fs)
|
rs863225222
|
|
NM_025114.4(CEP290):c.103-1G>T
|
rs863225188
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
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.2112del (p.Val705fs)
|
rs863225183
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3176del (p.Ile1059fs)
|
rs863225184
|
|
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
|
rs587783016
|
|
NM_025114.4(CEP290):c.4384del (p.Glu1462fs)
|
rs863225182
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs)
|
rs756302731
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)
|
rs267606719
|
|
NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter)
|
rs779262951
|
|
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)
|
rs863225185
|
|
NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter)
|
rs863225187
|
|
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)
|
rs863225150
|
|
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)
|
rs750436680
|
|
NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter)
|
rs863225237
|
|
NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser)
|
rs863225228
|
|
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)
|
rs137853107
|
|
NM_153704.6(TMEM67):c.1674+3A>G
|
rs863225224
|
|
NM_153704.6(TMEM67):c.1911C>A (p.Phe637Leu)
|
rs863225225
|
|
NM_153704.6(TMEM67):c.1961-2A>C
|
rs758948621
|
|
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)
|
rs863225238
|
|
NM_153704.6(TMEM67):c.2322+5del
|
rs863225240
|
|
NM_153704.6(TMEM67):c.2368C>A (p.His790Asn)
|
rs863225230
|
|
NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)
|
rs762543032
|
|
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg)
|
rs772437766
|
|
NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro)
|
rs863225234
|
|
NM_153704.6(TMEM67):c.2556+1G>T
|
rs786200867
|
|
NM_153704.6(TMEM67):c.2661+5G>A
|
rs863225239
|
|
NM_153704.6(TMEM67):c.2801G>A (p.Gly934Glu)
|
rs863225236
|
|
NM_153704.6(TMEM67):c.2825T>G (p.Phe942Cys)
|
rs863225233
|
|
NM_153704.6(TMEM67):c.389C>G (p.Pro130Arg)
|
rs863225226
|
|
NM_153704.6(TMEM67):c.730A>G (p.Thr244Ala)
|
rs863225229
|
|
NM_153704.6(TMEM67):c.978+3A>G
|
rs775256658
|
|
NM_198525.3(KIF7):c.2917C>T (p.Arg973Ter)
|
rs202229910
|
|
NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter)
|
rs778139192
|
|