NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
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_014704.4(CEP104):c.1003C>T (p.Gln335Ter)
|
rs144744629
|
0.00011
|
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)
|
rs373479905
|
0.00011
|
NM_001382391.1(CSPP1):c.2128+1G>A
|
rs199791452
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_001077418.3(TMEM231):c.438+5G>C
|
rs1472951348
|
0.00004
|
NM_001082538.3(TCTN1):c.712+1G>A
|
rs200863258
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)
|
rs751128300
|
0.00004
|
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)
|
rs1277577195
|
0.00004
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)
|
rs376555896
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
|
rs755459875
|
0.00003
|
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter)
|
rs779260568
|
0.00003
|
NM_001329943.3(KIAA0586):c.411-1486G>A
|
rs982449380
|
0.00003
|
NM_014875.3(KIF14):c.3661+1G>T
|
rs151249558
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1244-1G>T
|
rs1306595038
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2874+1G>C
|
rs753075262
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
NM_001044385.3(TMEM237):c.553+1G>A
|
rs80034299
|
0.00002
|
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)
|
rs774091057
|
0.00002
|
NM_001128178.3(NPHP1):c.729-2A>G
|
rs773781058
|
0.00002
|
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)
|
rs761732432
|
0.00002
|
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs)
|
rs759593846
|
0.00002
|
NM_001173990.3(TMEM216):c.35-2A>G
|
rs1057517528
|
0.00002
|
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys)
|
rs772739103
|
0.00002
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs)
|
rs749987648
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys)
|
rs763992407
|
0.00002
|
NM_024809.5(TCTN2):c.703del (p.Leu235fs)
|
rs760830696
|
0.00002
|
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)
|
rs398124546
|
0.00002
|
NM_001044385.3(TMEM237):c.136+1G>T
|
rs778823927
|
0.00001
|
NM_001128178.3(NPHP1):c.143+1G>C
|
rs745806504
|
0.00001
|
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)
|
rs1311042980
|
0.00001
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)
|
rs1349732291
|
0.00001
|
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)
|
rs753517219
|
0.00001
|
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)
|
rs1785745572
|
0.00001
|
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)
|
rs756276537
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)
|
rs376754552
|
0.00001
|
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
NM_001173990.3(TMEM216):c.191del (p.Leu64fs)
|
rs1858737558
|
0.00001
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
NM_001173990.3(TMEM216):c.222del (p.Phe76fs)
|
rs1057517512
|
0.00001
|
NM_001173990.3(TMEM216):c.34+2T>C
|
rs1057517498
|
0.00001
|
NM_001329943.3(KIAA0586):c.1885-2A>G
|
rs1431898844
|
0.00001
|
NM_001329943.3(KIAA0586):c.2944+4A>C
|
rs372841738
|
0.00001
|
NM_001329943.3(KIAA0586):c.3781+2T>C
|
rs1331480187
|
0.00001
|
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter)
|
rs1566903524
|
0.00001
|
NM_001329943.3(KIAA0586):c.4324-1G>A
|
rs753649082
|
0.00001
|
NM_001329943.3(KIAA0586):c.4324-2A>G
|
rs763815640
|
0.00001
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
NM_001378615.1(CC2D2A):c.3594+5G>A
|
rs863225181
|
0.00001
|
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)
|
rs780190318
|
0.00001
|
NM_001382391.1(CSPP1):c.1497-2A>C
|
rs766633448
|
0.00001
|
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter)
|
rs1554117456
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)
|
rs776941281
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
0.00001
|
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
|
rs751444506
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)
|
rs201081228
|
0.00001
|
NM_015272.5(RPGRIP1L):c.230+1G>A
|
rs786204135
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)
|
rs1456208953
|
0.00001
|
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs)
|
rs990678342
|
0.00001
|
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
|
rs993394322
|
0.00001
|
NM_015272.5(RPGRIP1L):c.776+1G>A
|
rs771226563
|
0.00001
|
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)
|
rs778260923
|
0.00001
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_018718.3(CEP41):c.278-1G>A
|
rs1796956272
|
0.00001
|
NM_018718.3(CEP41):c.942_943del (p.Glu315fs)
|
rs1584867379
|
0.00001
|
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp)
|
rs756789619
|
0.00001
|
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)
|
rs201010803
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)
|
rs1374014119
|
0.00001
|
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)
|
rs1007848349
|
0.00001
|
NM_153704.6(TMEM67):c.1353del (p.Glu452fs)
|
rs749435317
|
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_153704.6(TMEM67):c.863C>A (p.Ser288Ter)
|
rs769957689
|
0.00001
|
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
|
|
|
NC_000002.11:g.(?_110880912)_(110886837_110889255)del
|
|
|
NC_000003.11:g.(132438675_132440806)_132441126del
|
|
|
NC_000003.11:g.93714775_(93722753_93754174)del
|
|
|
NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup
|
|
|
NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
|
|
|
NC_000008.10:g.(?_68018120)_(68071392_?)dup
|
|
|
NC_000008.10:g.(?_68024187)_(68044335_?)dup
|
|
|
NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del
|
|
|
NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
|
|
|
NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
|
|
|
NC_000012.11:g.(124189236_124191272)_(124192951_?)del
|
|
|
NC_000012.11:g.(?_124155659)_(124184358_124189078)del
|
|
|
NC_000014.8:g.(?_58896061)_(58899195_?)dup
|
|
|
NC_000014.8:g.(?_58910652)_(58917484_?)dup
|
|
|
NC_000014.8:g.(?_58949211)_(58949450_?)dup
|
|
|
NC_000014.8:g.(?_58951496)_(58953792_?)del
|
|
|
NC_000014.9:g.(?_58448320)_(58450766_?)dup
|
|
|
NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
|
|
|
NC_000016.9:g.(?_75575228)_(75579413_?)dup
|
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001044385.3(TMEM237):c.137-2A>G
|
|
|
NM_001044385.3(TMEM237):c.396-2A>G
|
|
|
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)
|
rs972221242
|
|
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter)
|
rs2105899200
|
|
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly)
|
rs2105899169
|
|
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
|
|
|
NM_001044385.3(TMEM237):c.80-2A>G
|
rs1445957469
|
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
NM_001077418.3(TMEM231):c.140-30A>C
|
rs2080806593
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)
|
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
NM_001077418.3(TMEM231):c.439-33_538del
|
|
|
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro)
|
rs397514754
|
|
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
|
|
|
NM_001082538.3(TCTN1):c.1284del (p.Thr429fs)
|
rs1566003392
|
|
NM_001082538.3(TCTN1):c.1494+2T>C
|
|
|
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)
|
|
|
NM_001128178.3(NPHP1):c.1083+1G>A
|
|
|
NM_001128178.3(NPHP1):c.1084-2A>C
|
|
|
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
|
|
|
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)
|
|
|
NM_001128178.3(NPHP1):c.1270-2A>G
|
|
|
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)
|
|
|
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
|
|
|
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)
|
|
|
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)
|
|
|
NM_001128178.3(NPHP1):c.1352+2T>G
|
|
|
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs)
|
rs2104483923
|
|
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)
|
|
|
NM_001128178.3(NPHP1):c.141_143+40del
|
|
|
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)
|
|
|
NM_001128178.3(NPHP1):c.144-1G>A
|
|
|
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)
|
|
|
NM_001128178.3(NPHP1):c.1643-1G>C
|
|
|
NM_001128178.3(NPHP1):c.1643-2A>G
|
|
|
NM_001128178.3(NPHP1):c.1717-1dup
|
|
|
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)
|
|
|
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)
|
|
|
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
|
|
|
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)
|
rs1410236296
|
|
NM_001128178.3(NPHP1):c.69+1G>T
|
|
|
NM_001128178.3(NPHP1):c.69+1del
|
|
|
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)
|
|
|
NM_001128178.3(NPHP1):c.738_739del (p.His247fs)
|
|
|
NM_001128178.3(NPHP1):c.771+124C>T
|
|
|
NM_001128178.3(NPHP1):c.771+58C>T
|
|
|
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)
|
|
|
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
|
|
|
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
|
|
|
NM_001134831.2(AHI1):c.1094dup (p.Met365fs)
|
rs2128081478
|
|
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)
|
rs1789162289
|
|
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)
|
rs794729195
|
|
NM_001134831.2(AHI1):c.1270del (p.Ile424fs)
|
rs1788846426
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.1671del (p.Gly558fs)
|
rs2128056526
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs)
|
rs1163874095
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
|
|
|
NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
|
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)
|
rs797045224
|
|
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
|
|
|
NM_001134831.2(AHI1):c.2492+5G>A
|
rs2128012406
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)
|
rs1355690902
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
|
|
|
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
|
|
|
NM_001134831.2(AHI1):c.3426+2T>C
|
|
|
NM_001134831.2(AHI1):c.430del (p.Glu144fs)
|
rs2128098409
|
|
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs)
|
rs780910490
|
|
NM_001134831.2(AHI1):c.917del (p.Lys306fs)
|
rs1181159671
|
|
NM_001173976.2(TCTN1):c.1011-2_1012del
|
|
|
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
|
|
|
NM_001173990.3(TMEM216):c.137-1G>A
|
rs1554972547
|
|
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)
|
rs1554972556
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
|
|
|
NM_001173990.3(TMEM216):c.228del (p.Phe76fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.229+1G>A
|
rs2135191306
|
|
NM_001173990.3(TMEM216):c.229+1G>C
|
|
|
NM_001173990.3(TMEM216):c.230-2A>G
|
rs1211592806
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
|
|
|
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)
|
rs1554972958
|
|
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)
|
rs147267631
|
|
NM_001173990.3(TMEM216):c.34+1G>A
|
|
|
NM_001173990.3(TMEM216):c.35-13_36del
|
rs1057520085
|
|
NM_001173990.3(TMEM216):c.67del (p.Leu23fs)
|
rs1565088283
|
|
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
|
|
|
NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)
|
|
|
NM_001174150.2(ARL13B):c.59+1G>A
|
|
|
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)
|
rs121912608
|
|
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His)
|
rs764109067
|
|
NM_001174150.2(ARL13B):c.801del (p.Asn267fs)
|
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
|
|
|
NM_001244189.1(KIAA0586):c.2602_2612del11
|
|
|
NM_001329943.3(KIAA0586):c.-29A>C
|
rs752709426
|
|
NM_001329943.3(KIAA0586):c.1129+1G>A
|
rs2140707466
|
|
NM_001329943.3(KIAA0586):c.1130-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.1253+1G>A
|
|
|
NM_001329943.3(KIAA0586):c.1362+2T>C
|
rs901508284
|
|
NM_001329943.3(KIAA0586):c.1884+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.200-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.2254+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.2634+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.271-1G>A
|
|
|
NM_001329943.3(KIAA0586):c.2825+1G>A
|
rs2141025675
|
|
NM_001329943.3(KIAA0586):c.2945-1G>C
|
|
|
NM_001329943.3(KIAA0586):c.3142_3144+5del
|
rs771240219
|
|
NM_001329943.3(KIAA0586):c.3144+1G>A
|
|
|
NM_001329943.3(KIAA0586):c.3144+2T>C
|
|
|
NM_001329943.3(KIAA0586):c.341-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.3859-3_3865del
|
|
|
NM_001329943.3(KIAA0586):c.3991-1G>A
|
|
|
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
|
|
|
NM_001329943.3(KIAA0586):c.807+1G>T
|
|
|
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
|
rs1560166511
|
|
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)
|
rs763596840
|
|
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs)
|
rs1560184664
|
|
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs)
|
rs2109070129
|
|
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)
|
rs1719933188
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.3976-3C>A
|
rs576298659
|
|
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)
|
rs863225176
|
|
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
|
|
|
NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs)
|
rs1392635342
|
|
NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)
|
|
|
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)
|
rs386833765
|
|
NM_001382391.1(CSPP1):c.-10-1G>T
|
|
|
NM_001382391.1(CSPP1):c.-54_-51del
|
|
|
NM_001382391.1(CSPP1):c.100-2A>C
|
|
|
NM_001382391.1(CSPP1):c.1022+1G>C
|
|
|
NM_001382391.1(CSPP1):c.1022+1G>T
|
rs2129547115
|
|
NM_001382391.1(CSPP1):c.1187+1G>A
|
|
|
NM_001382391.1(CSPP1):c.1188-2A>G
|
|
|
NM_001382391.1(CSPP1):c.1828-1G>C
|
|
|
NM_001382391.1(CSPP1):c.2129-2A>G
|
rs2129559034
|
|
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)
|
rs1402669959
|
|
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs)
|
rs1827118960
|
|
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs)
|
rs2129561783
|
|
NM_001382391.1(CSPP1):c.3110-1G>A
|
rs1064795687
|
|
NM_001382391.1(CSPP1):c.3221-1G>A
|
|
|
NM_001382391.1(CSPP1):c.3330+1G>C
|
rs1045070965
|
|
NM_001382391.1(CSPP1):c.3330+2T>C
|
|
|
NM_001382391.1(CSPP1):c.3331-2A>G
|
rs1836992042
|
|
NM_001382391.1(CSPP1):c.483+2T>A
|
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
NM_001384732.1(CPLANE1):c.1122-2A>G
|
|
|
NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)
|
|
|
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs)
|
rs926409425
|
|
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
|
|
|
NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)
|
|
|
NM_001384732.1(CPLANE1):c.7234-2_7234del
|
|
|
NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)
|
|
|
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)
|
rs749829859
|
|
NM_014704.4(CEP104):c.1485+1G>A
|
|
|
NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)
|
|
|
NM_014704.4(CEP104):c.182del (p.Leu61fs)
|
|
|
NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs)
|
rs1189678912
|
|
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
|
|
|
NM_014704.4(CEP104):c.928dup (p.Ala310fs)
|
|
|
NM_014875.3(KIF14):c.1921dup (p.Ser641fs)
|
|
|
NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)
|
|
|
NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)
|
|
|
NM_014875.3(KIF14):c.8dup (p.Leu3fs)
|
|
|
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)
|
rs797045918
|
|
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs)
|
rs749987648
|
|
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)
|
rs1966902456
|
|
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)
|
rs1037406858
|
|
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)
|
rs767686118
|
|
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter)
|
rs145807002
|
|
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)
|
rs770291169
|
|
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs)
|
rs1966218490
|
|
NM_015272.5(RPGRIP1L):c.2891del (p.Pro964fs)
|
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>T
|
rs2151056579
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)
|
rs1567800920
|
|
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.529+1688_609del
|
|
|
NM_015272.5(RPGRIP1L):c.530-1G>C
|
rs2151325787
|
|
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)
|
rs564992297
|
|
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs)
|
rs757594906
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr)
|
rs886039811
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
|
|
|
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
|
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
|
|
|
NM_017777.4(MKS1):c.1071del (p.Cys358fs)
|
rs762377424
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1166-2A>G
|
rs1488635637
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
|
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1408-2A>G
|
rs1555596943
|
|
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
|
|
|
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)
|
rs1555596845
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter)
|
rs2143737457
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.1A>G (p.Met1Val)
|
rs1555601787
|
|
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
|
|
|
NM_017777.4(MKS1):c.367dup (p.Arg123fs)
|
rs775043799
|
|
NM_017777.4(MKS1):c.435del (p.Thr146fs)
|
|
|
NM_017777.4(MKS1):c.515+2T>G
|
rs1376664664
|
|
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
|
|
|
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
|
|
|
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)
|
rs2143800757
|
|
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
|
|
|
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
|
|
|
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
|
|
|
NM_017777.4(MKS1):c.80+2T>C
|
rs386834052
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
|
|
|
NM_017777.4(MKS1):c.858+1G>A
|
rs756102768
|
|
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
|
|
|
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
|
|
|
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
|
|
|
NM_018718.3(CEP41):c.757+2T>A
|
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
NM_018718.3(CEP41):c.98-2A>G
|
|
|
NM_019892.6(INPP5E):c.1224del (p.Ile409fs)
|
rs2131608743
|
|
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter)
|
rs2131605715
|
|
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
|
|
|
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
|
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.1310del (p.Lys437fs)
|
rs2137917381
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)
|
rs1465414886
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer)
|
rs2137710225
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)
|
rs2137423759
|
|
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
|
rs886042467
|
|
NM_025114.4(CEP290):c.3285del (p.Phe1095fs)
|
rs1017496924
|
|
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)
|
rs2036977719
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
|
rs761907569
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)
|
rs797044604
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)
|
rs1292516576
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)
|
rs267606719
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.583_584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
|
rs2033254449
|
|
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)
|
rs1219184437
|
|
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
|
rs773642187
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.734_735del (p.Glu245fs)
|
rs1592671672
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NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
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rs45502896
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NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)
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rs863225150
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NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)
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NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)
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NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)
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rs750436680
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NM_033402.5(LRRCC1):c.105-1G>C
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rs886039794
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NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
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rs1456714047
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NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
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NM_153240.5(NPHP3):c.187_194del (p.Gly63fs)
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rs2108007892
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NM_153240.5(NPHP3):c.1888-7_1893del
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rs1553773296
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NM_153240.5(NPHP3):c.52del (p.Asp18fs)
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rs2108008280
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NM_153704.6(TMEM67):c.1132-2A>G
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NM_153704.6(TMEM67):c.114del (p.Phe39fs)
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NM_153704.6(TMEM67):c.1847C>A (p.Ala616Asp)
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NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
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NM_153704.6(TMEM67):c.223+1G>C
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NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)
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rs1815059174
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NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln)
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rs886039810
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NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)
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rs868404889
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