NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_001077418.3(TMEM231):c.139+47C>A
|
rs200063331
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
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_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
NM_153704.6(TMEM67):c.224-2del
|
rs386834190
|
0.00010
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
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_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
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_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
|
rs564625875
|
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.579_580del (p.Gly195fs)
|
rs386834202
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_001077418.3(TMEM231):c.664+4A>G
|
rs760426025
|
0.00005
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)
|
rs775449384
|
0.00004
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)
|
rs863225147
|
0.00004
|
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)
|
rs563610095
|
0.00004
|
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter)
|
rs770296270
|
0.00004
|
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)
|
rs587777138
|
0.00004
|
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)
|
rs375113643
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)
|
rs121918197
|
0.00004
|
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
0.00004
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter)
|
rs150332116
|
0.00004
|
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)
|
rs397514609
|
0.00003
|
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)
|
rs376555896
|
0.00003
|
NM_001077418.3(TMEM231):c.284del (p.Asp95fs)
|
rs750897443
|
0.00003
|
NM_001077418.3(TMEM231):c.438+1G>A
|
rs1415483600
|
0.00003
|
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_001329943.3(KIAA0586):c.2536del (p.Val846fs)
|
rs1307758243
|
0.00003
|
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=)
|
rs780520735
|
0.00003
|
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)
|
rs386833752
|
0.00003
|
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter)
|
rs529437224
|
0.00003
|
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter)
|
rs781848162
|
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_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)
|
rs747025617
|
0.00003
|
NM_001044385.3(TMEM237):c.553+1G>A
|
rs80034299
|
0.00002
|
NM_001044385.3(TMEM237):c.943+1G>T
|
rs748510210
|
0.00002
|
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr)
|
rs1197109885
|
0.00002
|
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)
|
rs547352656
|
0.00002
|
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)
|
rs765263671
|
0.00002
|
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs)
|
rs1445681647
|
0.00002
|
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)
|
rs863225138
|
0.00002
|
NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter)
|
rs1064793157
|
0.00002
|
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=)
|
rs540255320
|
0.00002
|
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter)
|
rs373763986
|
0.00002
|
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter)
|
rs776003330
|
0.00002
|
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)
|
rs770566897
|
0.00002
|
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)
|
rs760918829
|
0.00002
|
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)
|
rs1022325907
|
0.00002
|
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)
|
rs779823379
|
0.00002
|
NM_001382391.1(CSPP1):c.1976-2A>G
|
rs1320076769
|
0.00002
|
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter)
|
rs771203308
|
0.00002
|
NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs)
|
rs750696284
|
0.00002
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
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_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
|
rs782371437
|
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.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.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
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_001044385.3(TMEM237):c.278T>A (p.Leu93Ter)
|
rs1687223389
|
0.00001
|
NM_001044385.3(TMEM237):c.677+1G>A
|
rs793888505
|
0.00001
|
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter)
|
rs543122080
|
0.00001
|
NM_001077418.3(TMEM231):c.582+1G>A
|
rs752141701
|
0.00001
|
NM_001128178.3(NPHP1):c.1270-1G>A
|
rs376492641
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+1G>T
|
rs1233478832
|
0.00001
|
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.1484G>A (p.Arg495His)
|
rs387907003
|
0.00001
|
NM_001134831.2(AHI1):c.1626+1G>A
|
rs863225137
|
0.00001
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
|
rs751734985
|
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.313C>T (p.Gln105Ter)
|
rs774628957
|
0.00001
|
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)
|
rs863225142
|
0.00001
|
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)
|
rs201391050
|
0.00001
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=)
|
rs762081862
|
0.00001
|
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)
|
rs749475936
|
0.00001
|
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs)
|
rs1410766981
|
0.00001
|
NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs)
|
rs1364954371
|
0.00001
|
NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs)
|
rs1253807820
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3777del
|
rs1237632090
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3785A>T
|
rs942756021
|
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.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.1186C>T (p.Arg396Ter)
|
rs775285273
|
0.00001
|
NM_001382391.1(CSPP1):c.1697+1G>T
|
rs863225193
|
0.00001
|
NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter)
|
rs1225726214
|
0.00001
|
NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter)
|
rs1380418532
|
0.00001
|
NM_001382391.1(CSPP1):c.2968+1G>T
|
rs587777142
|
0.00001
|
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter)
|
rs760275528
|
0.00001
|
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter)
|
rs774703929
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)
|
rs145665129
|
0.00001
|
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)
|
rs793888508
|
0.00001
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter)
|
rs146264153
|
0.00001
|
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)
|
rs990955357
|
0.00001
|
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)
|
rs1588830568
|
0.00001
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)
|
rs760415289
|
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.2343T>C (p.Asn781=)
|
rs748034744
|
0.00001
|
NM_025114.4(CEP290):c.3185del (p.Leu1062fs)
|
rs863225189
|
0.00001
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
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.6012-2A>G
|
rs555755221
|
0.00001
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)
|
rs1487082103
|
0.00001
|
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)
|
rs863225235
|
0.00001
|
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)
|
rs267607115
|
0.00001
|
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)
|
rs201791586
|
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
|
2q13 deletion
|
|
|
GRCh37/hg19 2q13(chr2:110880893-110962659)
|
|
|
GRCh37/hg19 2q13(chr2:110880925-110962590)
|
|
|
NC_000002.11:g.(?_202466462)_(202508123_?)del
|
|
|
NC_000002.11:g.(?_202501451)_(202633608_?)del
|
|
|
NC_000002.11:g.(?_202508062)_(202508123_?)del
|
|
|
NC_000002.12:g.(?_201618900)_(201647825_?)del
|
|
|
NC_000002.12:g.110069919_110205214del
|
|
|
NC_000008.10:g.(?_67976634)_(68658364_?)del
|
|
|
NC_000008.10:g.(?_67998222)_(67998365_?)del
|
|
|
NC_000008.10:g.(?_68044166)_(68044335_?)del
|
|
|
NC_000011.9:g.(?_61133497)_(61133708_?)del
|
|
|
NC_000014.8:g.(?_58711639)_(59014694_?)del
|
|
|
NC_000014.8:g.(?_58926541)_(58927898_?)del
|
|
|
NC_000014.8:g.(?_58938897)_(58941535_?)del
|
|
|
NC_000014.8:g.(?_58975253)_(58975447_?)del
|
|
|
NC_000014.9:g.(?_58443934)_(58450766_?)del
|
|
|
NC_000016.10:g.(?_75539974)_(75545515_?)del
|
|
|
NC_000016.9:g.(?_75490611)_(75576599_?)del
|
|
|
NC_000016.9:g.(?_75512539)_(75576601_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75575373_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75690509_?)del
|
|
|
NC_000016.9:g.(?_75589682)_(75590169_?)del
|
|
|
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
|
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001044385.3(TMEM237):c.128dup (p.Asn43fs)
|
|
|
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter)
|
rs902145121
|
|
NM_001044385.3(TMEM237):c.275-2A>G
|
rs1574582671
|
|
NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter)
|
rs2105900861
|
|
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter)
|
rs565778005
|
|
NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs)
|
|
|
NM_001044385.3(TMEM237):c.470_473dup (p.Thr159fs)
|
rs1957813141
|
|
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)
|
rs756970007
|
|
NM_001044385.3(TMEM237):c.606_609dup (p.Val204fs)
|
rs2105899220
|
|
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)
|
rs1574587553
|
|
NM_001044385.3(TMEM237):c.677+1G>T
|
rs793888505
|
|
NM_001044385.3(TMEM237):c.694dup (p.Ser232fs)
|
|
|
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
|
|
|
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)
|
rs387907131
|
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
NM_001044385.3(TMEM237):c.869+1del
|
rs1311551510
|
|
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)
|
rs768528861
|
|
NM_001077418.3(TMEM231):c.-37G>A
|
|
|
NM_001077418.3(TMEM231):c.139+1del
|
rs2151711054
|
|
NM_001077418.3(TMEM231):c.139+39_139+40del
|
|
|
NM_001077418.3(TMEM231):c.140-3C>G
|
rs776673877
|
|
NM_001077418.3(TMEM231):c.140-8dup
|
|
|
NM_001077418.3(TMEM231):c.140-9_140-8del
|
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
|
|
|
NM_001077418.3(TMEM231):c.354dup (p.His119fs)
|
rs2151703115
|
|
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
|
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr)
|
rs903354438
|
|
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter)
|
rs2151702587
|
|
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)
|
|
|
NM_001077418.3(TMEM231):c.583-1_583delinsAG
|
rs2151700036
|
|
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC
|
|
|
NM_001077418.3(TMEM231):c.665-11T>C
|
rs886039807
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.625-2A>G
|
|
|
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)
|
|
|
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)
|
rs2128081591
|
|
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)
|
rs121434348
|
|
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.1303C>T (p.Arg435Ter)
|
rs121434349
|
|
NM_001134831.2(AHI1):c.1326del (p.Val443fs)
|
rs1788834778
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.1330_1331insGGATA (p.Ile444fs)
|
rs1788833484
|
|
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer)
|
rs2128071123
|
|
NM_001134831.2(AHI1):c.1420del (p.Ile474fs)
|
rs1369440486
|
|
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.1761del (p.Lys586_Trp587insTer)
|
rs1787347907
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
NM_001134831.2(AHI1):c.1889del (p.Ser630fs)
|
rs1786487832
|
|
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.1983del (p.Trp662fs)
|
rs1459452503
|
|
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.2037-1G>C
|
rs1784918128
|
|
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.2266+1G>A
|
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
|
|
|
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)
|
rs863225139
|
|
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)
|
rs863225146
|
|
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)
|
rs863225146
|
|
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)
|
rs387906270
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs)
|
rs587783014
|
|
NM_001134831.2(AHI1):c.2623+1G>T
|
rs751823180
|
|
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)
|
rs1355690902
|
|
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs)
|
rs1463748841
|
|
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)
|
rs753874898
|
|
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
|
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs)
|
rs2140706563
|
|
NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)
|
|
|
NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs)
|
rs1232900431
|
|
NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs)
|
|
|
NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter)
|
rs1301378192
|
|
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)
|
|
|
NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)
|
|
|
NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)
|
|
|
NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs)
|
rs2140844892
|
|
NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs)
|
|
|
NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)
|
|
|
NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs)
|
rs2140873534
|
|
NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter)
|
rs2040187420
|
|
NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs)
|
|
|
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter)
|
rs1566827747
|
|
NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs)
|
rs2140875258
|
|
NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs)
|
|
|
NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs)
|
|
|
NM_001329943.3(KIAA0586):c.1935del (p.Val646fs)
|
rs2140886312
|
|
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)
|
rs797045119
|
|
NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs)
|
rs2140887842
|
|
NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)
|
|
|
NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)
|
|
|
NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs)
|
|
|
NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter)
|
rs2140372917
|
|
NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs)
|
|
|
NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs)
|
|
|
NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)
|
|
|
NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter)
|
|
|
NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs)
|
|
|
NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs)
|
rs2141193077
|
|
NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)
|
|
|
NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs)
|
rs2141202895
|
|
NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs)
|
|
|
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
|
|
|
NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)
|
|
|
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs)
|
rs745949846
|
|
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs)
|
rs745949846
|
|
NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs)
|
rs886039809
|
|
NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs)
|
rs762932867
|
|
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs)
|
rs867342730
|
|
NM_001329943.3(KIAA0586):c.411-1371G>A
|
rs2038350104
|
|
NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG
|
|
|
NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs)
|
|
|
NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs)
|
rs2141430525
|
|
NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)
|
|
|
NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter)
|
rs2140098022
|
|
NM_001329943.3(KIAA0586):c.4495+3755del
|
rs2140128017
|
|
NM_001329943.3(KIAA0586):c.4495+3767A>T
|
rs2140128191
|
|
NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)
|
|
|
NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs)
|
rs2140565674
|
|
NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs)
|
|
|
NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter)
|
rs376338487
|
|
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs)
|
rs1203751352
|
|
NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs)
|
rs2140664007
|
|
NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)
|
|
|
NM_001329943.3(KIAA0586):c.961+1G>A
|
|
|
NM_001378615.1(CC2D2A):c.1149+1G>A
|
rs1553827236
|
|
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.2338+1G>C
|
rs2109050324
|
|
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.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
|
|
|
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)
|
rs386833750
|
|
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.4021_4022del (p.Thr1341fs)
|
rs1577396376
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)
|
rs863225176
|
|
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs)
|
rs772110399
|
|
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)
|
rs863225168
|
|
NM_001378615.1(CC2D2A):c.4437+1G>A
|
rs786205568
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter)
|
rs1553845300
|
|
NM_001378615.1(CC2D2A):c.4491A>C (p.Gln1497His)
|
rs863225179
|
|
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs)
|
rs863225175
|
|
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs)
|
rs746415983
|
|
NM_001382391.1(CSPP1):c.-56del
|
|
|
NM_001382391.1(CSPP1):c.-69C>T
|
rs1294428066
|
|
NM_001382391.1(CSPP1):c.1083del (p.Met362fs)
|
|
|
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)
|
rs374703898
|
|
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)
|
rs886044058
|
|
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)
|
rs760205035
|
|
NM_001382391.1(CSPP1):c.140dup (p.Ile48fs)
|
|
|
NM_001382391.1(CSPP1):c.1505del (p.Pro502fs)
|
rs1818317027
|
|
NM_001382391.1(CSPP1):c.1544_1547del (p.Asn515fs)
|
rs752908017
|
|
NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter)
|
rs756752153
|
|
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs)
|
|
|
NM_001382391.1(CSPP1):c.1698-1G>C
|
rs2129554176
|
|
NM_001382391.1(CSPP1):c.1787_1790del (p.Lys596fs)
|
rs1409618249
|
|
NM_001382391.1(CSPP1):c.1817del (p.Leu606fs)
|
rs1021950925
|
|
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter)
|
rs1821344202
|
|
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs)
|
rs1189289587
|
|
NM_001382391.1(CSPP1):c.1857_1860del (p.Lys619fs)
|
|
|
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter)
|
rs1201375699
|
|
NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter)
|
rs1825358020
|
|
NM_001382391.1(CSPP1):c.2205del (p.Lys735fs)
|
|
|
NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)
|
|
|
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)
|
rs1402669959
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)
|
rs587777145
|
|
NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter)
|
|
|
NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs)
|
|
|
NM_001382391.1(CSPP1):c.2285_2286del (p.Leu762fs)
|
rs1827098991
|
|
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs)
|
rs587777140
|
|
NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs)
|
|
|
NM_001382391.1(CSPP1):c.2373_2374del (p.Lys794fs)
|
|
|
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs)
|
rs1375090095
|
|
NM_001382391.1(CSPP1):c.239_240del (p.Asp79_Tyr80insTer)
|
|
|
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.2477_2478insT (p.Lys826fs)
|
|
|
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs)
|
rs755739341
|
|
NM_001382391.1(CSPP1):c.2527dup (p.Glu843fs)
|
rs1554604482
|
|
NM_001382391.1(CSPP1):c.2538+1G>T
|
rs2129560295
|
|
NM_001382391.1(CSPP1):c.2540del (p.His847fs)
|
rs1563720581
|
|
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.2584del (p.Ile862fs)
|
|
|
NM_001382391.1(CSPP1):c.259_263del (p.Leu87fs)
|
|
|
NM_001382391.1(CSPP1):c.263_267del (p.Lys88fs)
|
rs2129543529
|
|
NM_001382391.1(CSPP1):c.264del (p.Glu89fs)
|
|
|
NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter)
|
|
|
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs)
|
rs863225190
|
|
NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter)
|
|
|
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter)
|
rs537456518
|
|
NM_001382391.1(CSPP1):c.2829-9_2968+11del
|
rs1554614893
|
|
NM_001382391.1(CSPP1):c.2968+1G>A
|
rs587777142
|
|
NM_001382391.1(CSPP1):c.30del (p.Glu11fs)
|
|
|
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter)
|
rs200881715
|
|
NM_001382391.1(CSPP1):c.3220+1G>A
|
rs773954226
|
|
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter)
|
rs587777141
|
|
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs)
|
|
|
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer)
|
rs1206214608
|
|
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs)
|
rs2129575958
|
|
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer)
|
rs1175214174
|
|
NM_001382391.1(CSPP1):c.419_422del (p.Asn140fs)
|
rs1371078806
|
|
NM_001382391.1(CSPP1):c.430del (p.Arg144fs)
|
rs863225192
|
|
NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter)
|
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter)
|
rs587777146
|
|
NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter)
|
|
|
NM_001382391.1(CSPP1):c.923+1G>C
|
rs863225194
|
|
NM_001384732.1(CPLANE1):c.1809_1811delinsCCAT (p.Tyr607fs)
|
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
NM_001384732.1(CPLANE1):c.3176del (p.Pro1059fs)
|
|
|
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs)
|
rs775263897
|
|
NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)
|
|
|
NM_003611.3(OFD1):c.710del (p.Lys237fs)
|
rs312262845
|
|
NM_014704.4(CEP104):c.1232del (p.Gly411fs)
|
|
|
NM_014714.4(IFT140):c.3141+1G>T
|
rs764770536
|
|
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
|
|
|
NM_014714.4(IFT140):c.3454-488_4182+2588dup
|
|
|
NM_014714.4(IFT140):c.874G>A (p.Val292Met)
|
rs431905521
|
|
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)
|
rs863225217
|
|
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter)
|
rs1555616593
|
|
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.2083G>C (p.Ala695Pro)
|
rs121918200
|
|
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)
|
rs387906243
|
|
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)
|
rs542206983
|
|
NM_015272.5(RPGRIP1L):c.2305-1G>A
|
rs863225215
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
NM_015272.5(RPGRIP1L):c.3701+1G>T
|
rs863225219
|
|
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)
|
rs121918199
|
|
NM_015631.6(TCTN3):c.615del (p.Ser206fs)
|
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs)
|
rs771224190
|
|
NM_016464.5(TMEM138):c.306dup (p.Arg103fs)
|
|
|
NM_016464.5(TMEM138):c.307del (p.Arg103fs)
|
|
|
NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)
|
|
|
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr)
|
rs387907134
|
|
NM_016464.5(TMEM138):c.377-3C>G
|
rs774110963
|
|
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)
|
rs387907133
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer)
|
rs2135153244
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
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.1491-2A>G
|
rs886038203
|
|
NM_017777.4(MKS1):c.1588+1G>T
|
rs886038204
|
|
NM_018718.3(CEP41):c.33+2T>G
|
rs1584916464
|
|
NM_018718.3(CEP41):c.34-2A>G
|
rs1797714974
|
|
NM_018718.3(CEP41):c.423-2A>C
|
rs781815473
|
|
NM_018718.3(CEP41):c.423-2A>G
|
rs781815473
|
|
NM_018718.3(CEP41):c.477del (p.Glu160fs)
|
|
|
NM_018718.3(CEP41):c.7del (p.Leu3fs)
|
rs1798139951
|
|
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)
|
rs1584901211
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
NM_018718.3(CEP41):c.880del (p.Leu294fs)
|
|
|
NM_018718.3(CEP41):c.97+3_97+5del
|
rs2117674119
|
|
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
NM_019892.6(INPP5E):c.473del (p.Gly158fs)
|
rs779450345
|
|
NM_024809.5(TCTN2):c.1550dup (p.His517fs)
|
|
|
NM_024809.5(TCTN2):c.1806dup (p.Thr603fs)
|
|
|
NM_025114.4(CEP290):c.103-1G>T
|
rs863225188
|
|
NM_025114.4(CEP290):c.1189+1G>A
|
rs2039659434
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
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.1830del (p.Glu610fs)
|
rs992032116
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.2112del (p.Val705fs)
|
rs863225183
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
NM_025114.4(CEP290):c.2317dup (p.Ser773fs)
|
rs1555218898
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
NM_025114.4(CEP290):c.297+1G>A
|
rs878853360
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3176del (p.Ile1059fs)
|
rs863225184
|
|
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)
|
rs878853362
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
|
rs587783016
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4045_4046del (p.Met1349fs)
|
rs2036720274
|
|
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)
|
rs779645669
|
|
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs)
|
rs1555208870
|
|
NM_025114.4(CEP290):c.4384del (p.Glu1462fs)
|
rs863225182
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.4656del (p.Glu1553fs)
|
rs62640572
|
|
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)
|
rs1292516576
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter)
|
rs886039808
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs)
|
rs756302731
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
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.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter)
|
rs779262951
|
|
NM_025114.4(CEP290):c.6135+1G>A
|
rs2035114607
|
|
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)
|
rs863225185
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
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.6939C>A (p.Tyr2313Ter)
|
rs863225187
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter)
|
rs2136546576
|
|
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)
|
rs137853107
|
|
NM_153704.6(TMEM67):c.1961-2A>C
|
rs758948621
|
|
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter)
|
rs1554558363
|
|
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
|
|
|
NM_153704.6(TMEM67):c.2556+1G>T
|
rs786200867
|
|
NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter)
|
rs1554615516
|
|