NM_001321218.2(B9D1):c.473-1G>C
|
rs73980009
|
0.01140
|
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)
|
rs17089782
|
0.00771
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp)
|
rs201845154
|
0.00034
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_019892.6(INPP5E):c.844G>A (p.Gly282Arg)
|
rs138068434
|
0.00018
|
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.3196C>T (p.Arg1066Ter)
|
rs780163791
|
0.00013
|
NM_001134831.2(AHI1):c.136-2A>G
|
rs776579906
|
0.00011
|
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)
|
rs759799287
|
0.00011
|
NM_015681.6(B9D1):c.151T>C (p.Ser51Pro)
|
rs546359789
|
0.00011
|
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)
|
rs141744337
|
0.00009
|
NM_001382391.1(CSPP1):c.2128+1G>A
|
rs199791452
|
0.00009
|
NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly)
|
rs138866758
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
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_015202.5(KATNIP):c.49C>T (p.Arg17Ter)
|
rs142375551
|
0.00008
|
NM_001082538.3(TCTN1):c.341+1G>A
|
rs200241085
|
0.00006
|
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)
|
rs752659088
|
0.00006
|
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val)
|
rs199956627
|
0.00006
|
NM_024809.5(TCTN2):c.267+1G>A
|
rs141752910
|
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_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln)
|
rs200645738
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_024809.5(TCTN2):c.1612+1G>A
|
rs371537478
|
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_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)
|
rs150433582
|
0.00004
|
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)
|
rs755097302
|
0.00004
|
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter)
|
rs150242262
|
0.00004
|
NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg)
|
rs768663992
|
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_025103.4(IFT74):c.535C>G (p.Gln179Glu)
|
rs150219690
|
0.00004
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met)
|
rs771551765
|
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.461A>G (p.Asn154Ser)
|
rs758972393
|
0.00003
|
NM_001329943.3(KIAA0586):c.411-1486G>A
|
rs982449380
|
0.00003
|
NM_001378615.1(CC2D2A):c.4652T>C (p.Leu1551Pro)
|
rs763425007
|
0.00003
|
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn)
|
rs533310477
|
0.00003
|
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)
|
rs375009168
|
0.00003
|
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
|
rs763219658
|
0.00003
|
NM_006346.4(PIBF1):c.1213C>T (p.Arg405Ter)
|
rs751280996
|
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_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_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)
|
rs370676288
|
0.00002
|
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys)
|
rs772739103
|
0.00002
|
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)
|
rs750247691
|
0.00002
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)
|
rs386833755
|
0.00002
|
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His)
|
rs886940102
|
0.00002
|
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys)
|
rs149170427
|
0.00002
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)
|
rs200444162
|
0.00002
|
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)
|
rs144610914
|
0.00002
|
NM_015156.4(RCOR1):c.446-3C>T
|
rs754404879
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs)
|
rs749987648
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3220+1G>A
|
rs969617857
|
0.00002
|
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)
|
rs745688122
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
0.00002
|
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)
|
rs375909217
|
0.00002
|
NM_019892.6(INPP5E):c.1615G>A (p.Gly539Arg)
|
rs375126841
|
0.00002
|
NM_025114.4(CEP290):c.181-1G>A
|
rs281865190
|
0.00002
|
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)
|
rs752362727
|
0.00002
|
NM_153704.6(TMEM67):c.1844G>A (p.Cys615Tyr)
|
rs377160954
|
0.00002
|
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr)
|
rs149475825
|
0.00002
|
NM_001044385.3(TMEM237):c.136+1G>T
|
rs778823927
|
0.00001
|
NM_001082538.3(TCTN1):c.1104+1G>C
|
rs756402483
|
0.00001
|
NM_001082538.3(TCTN1):c.713-2A>G
|
rs2066444872
|
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.1483C>T (p.Arg495Cys)
|
rs891261493
|
0.00001
|
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)
|
rs1785745572
|
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.2582G>A (p.Gly861Glu)
|
rs1217172210
|
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_001174150.2(ARL13B):c.689+2T>G
|
rs761785586
|
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.4324-2A>G
|
rs763815640
|
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_001352754.2(ARMC9):c.879G>A (p.Thr293=)
|
rs766572502
|
0.00001
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
NM_001378615.1(CC2D2A):c.2486+1G>C
|
rs386833747
|
0.00001
|
NM_001378615.1(CC2D2A):c.2625G>A (p.Ser875=)
|
rs765873247
|
0.00001
|
NM_001378615.1(CC2D2A):c.3594+5G>A
|
rs863225181
|
0.00001
|
NM_001378615.1(CC2D2A):c.438+1G>A
|
rs1453265480
|
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.1828C>T (p.Gln610Ter)
|
rs1200574734
|
0.00001
|
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs)
|
rs1327245073
|
0.00001
|
NM_001384732.1(CPLANE1):c.2563C>T (p.Gln855Ter)
|
rs1285358729
|
0.00001
|
NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala)
|
rs1019442092
|
0.00001
|
NM_001384732.1(CPLANE1):c.3673-1G>C
|
rs886041688
|
0.00001
|
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg)
|
rs869312898
|
0.00001
|
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs)
|
rs1398880084
|
0.00001
|
NM_001384732.1(CPLANE1):c.4482-1G>T
|
rs774492992
|
0.00001
|
NM_001384732.1(CPLANE1):c.8858G>A (p.Trp2953Ter)
|
rs1482303814
|
0.00001
|
NM_001384732.1(CPLANE1):c.9017+1G>A
|
rs863225154
|
0.00001
|
NM_006346.4(PIBF1):c.1133A>C (p.His378Pro)
|
rs147863910
|
0.00001
|
NM_014704.4(CEP104):c.49del (p.Asp17fs)
|
rs1334483830
|
0.00001
|
NM_015041.3(CLUAP1):c.688C>T (p.Arg230Ter)
|
rs769705065
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)
|
rs776941281
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1700-1G>A
|
rs1057520790
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
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.2304+1G>T
|
rs746451396
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)
|
rs1456208953
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3221-2A>G
|
rs200448428
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3617-2A>G
|
rs781683750
|
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_015631.6(TCTN3):c.1203+1G>C
|
rs1221992171
|
0.00001
|
NM_015631.6(TCTN3):c.627+1G>A
|
rs1566074908
|
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.1095+1G>A
|
rs747740477
|
0.00001
|
NM_017777.4(MKS1):c.1096-1G>C
|
rs1401015954
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
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.81-1G>A
|
rs12942386
|
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.1052G>A (p.Arg351His)
|
rs775094328
|
0.00001
|
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)
|
rs13297509
|
0.00001
|
NM_019892.6(INPP5E):c.1670G>A (p.Arg557His)
|
rs992814593
|
0.00001
|
NM_019892.6(INPP5E):c.1790C>T (p.Pro597Leu)
|
rs760790290
|
0.00001
|
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter)
|
rs754596743
|
0.00001
|
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter)
|
rs751583919
|
0.00001
|
NM_025114.4(CEP290):c.1190-2A>G
|
rs200818935
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.1712-2A>T
|
rs764551108
|
0.00001
|
NM_025114.4(CEP290):c.181-2A>G
|
rs886042359
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.3309+2T>C
|
rs1007902545
|
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_153704.6(TMEM67):c.1322G>A (p.Arg441His)
|
rs386834183
|
0.00001
|
NM_153704.6(TMEM67):c.1353del (p.Glu452fs)
|
rs749435317
|
0.00001
|
NM_153704.6(TMEM67):c.1646G>A (p.Arg549His)
|
rs768457119
|
0.00001
|
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr)
|
rs1281778614
|
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.638G>A (p.Arg213His)
|
rs770605718
|
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_000004.11:g.(?_15478346)_(15482422_?)del
|
|
|
NC_000004.11:g.15589466_15589468delGAA
|
rs794729225
|
|
NC_000006.11:g.(?_135679250)_(135679345_?)dup
|
|
|
NC_000006.12:g.(?_135394756)_(135411564_?)del
|
|
|
NC_000008.10:g.(94807736_94808128)_(94809699_94811845)del
|
|
|
NC_000008.10:g.(?_68018120)_(68071392_?)dup
|
|
|
NC_000008.10:g.(?_68024187)_(68044335_?)dup
|
|
|
NC_000011.10:g.(?_61393874)_(61398286_?)del
|
|
|
NC_000012.11:g.(?_111079754)_(111082915_?)del
|
|
|
NC_000012.11:g.(?_88447419)_(88448200_?)dup
|
|
|
NC_000012.11:g.(?_88465051)_(88508979_?)dup
|
|
|
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_000016.10:g.(?_53656472)_(53687965_?)del
|
|
|
NC_000016.9:g.(?_53672132)_(53679723_?)del
|
|
|
NC_000016.9:g.(?_53720335)_(53721887_?)dup
|
|
|
NC_000016.9:g.(?_53721798)_(53724290_?)del
|
|
|
NC_000016.9:g.(?_53729213)_(53730217_?)dup
|
|
|
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.62del (p.Pro21fs)
|
rs1574587553
|
|
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly)
|
rs2105899169
|
|
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.439-33_538del
|
|
|
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
|
|
|
NM_001082538.3(TCTN1):c.1104+2T>C
|
|
|
NM_001082538.3(TCTN1):c.1332-1G>C
|
|
|
NM_001082538.3(TCTN1):c.1494+1G>A
|
rs1165243207
|
|
NM_001082538.3(TCTN1):c.1495-2A>G
|
|
|
NM_001082538.3(TCTN1):c.1635+1G>A
|
|
|
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)
|
|
|
NM_001082538.3(TCTN1):c.472+1G>C
|
|
|
NM_001082538.3(TCTN1):c.580del (p.Ser194fs)
|
rs2136006298
|
|
NM_001082538.3(TCTN1):c.638T>A (p.Leu213Gln)
|
rs2066300090
|
|
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.11-1G>C
|
|
|
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)
|
rs1789162289
|
|
NM_001134831.2(AHI1):c.1151+1G>A
|
rs2128081334
|
|
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.136-1G>A
|
rs2128100946
|
|
NM_001134831.2(AHI1):c.1493T>C (p.Leu498Pro)
|
rs2128059170
|
|
NM_001134831.2(AHI1):c.1779+1G>A
|
|
|
NM_001134831.2(AHI1):c.1779+1G>T
|
|
|
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)
|
rs1583276758
|
|
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.1913-1G>A
|
|
|
NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
|
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)
|
rs797045224
|
|
NM_001134831.2(AHI1):c.2155G>C (p.Asp719His)
|
|
|
NM_001134831.2(AHI1):c.2167C>G (p.Arg723Gly)
|
|
|
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)
|
rs1784406093
|
|
NM_001134831.2(AHI1):c.2492+5G>A
|
rs2128012406
|
|
NM_001134831.2(AHI1):c.2493-1G>T
|
|
|
NM_001134831.2(AHI1):c.2624-2A>G
|
|
|
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)
|
rs1355690902
|
|
NM_001134831.2(AHI1):c.2760_2764+2del
|
|
|
NM_001134831.2(AHI1):c.2764+2T>C
|
|
|
NM_001134831.2(AHI1):c.2961+1G>A
|
|
|
NM_001134831.2(AHI1):c.2961+2T>G
|
rs2127973751
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001134831.2(AHI1):c.2989-2A>G
|
rs2128485171
|
|
NM_001134831.2(AHI1):c.2989-2A>T
|
|
|
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
|
|
|
NM_001134831.2(AHI1):c.3110-1G>A
|
|
|
NM_001134831.2(AHI1):c.3110-2A>G
|
|
|
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
|
|
|
NM_001134831.2(AHI1):c.3166-1G>T
|
|
|
NM_001134831.2(AHI1):c.3426+2T>C
|
|
|
NM_001134831.2(AHI1):c.3427-1G>A
|
|
|
NM_001134831.2(AHI1):c.3486-2A>T
|
|
|
NM_001134831.2(AHI1):c.430del (p.Glu144fs)
|
rs2128098409
|
|
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs)
|
rs780910490
|
|
NM_001134831.2(AHI1):c.749+1G>C
|
rs780069818
|
|
NM_001134831.2(AHI1):c.750-1G>A
|
|
|
NM_001134831.2(AHI1):c.750-2A>G
|
|
|
NM_001134831.2(AHI1):c.932-2_932del
|
|
|
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
|
|
|
NM_001173990.3(TMEM216):c.136+2T>G
|
|
|
NM_001173990.3(TMEM216):c.137-1G>A
|
rs1554972547
|
|
NM_001173990.3(TMEM216):c.137-2A>C
|
|
|
NM_001173990.3(TMEM216):c.137-2A>G
|
rs1858735439
|
|
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.229+1G>T
|
|
|
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.35-1G>A
|
rs2135189980
|
|
NM_001173990.3(TMEM216):c.35-2_35-1insT
|
|
|
NM_001173990.3(TMEM216):c.67del (p.Leu23fs)
|
rs1565088283
|
|
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
|
|
|
NM_001174150.2(ARL13B):c.1141+1G>A
|
|
|
NM_001174150.2(ARL13B):c.131-1G>T
|
rs373604132
|
|
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs)
|
rs1560002959
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
NM_001258244.2(TMEM218):c.111G>T (p.Arg37Ser)
|
rs1248550491
|
|
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.2338+3A>G
|
|
|
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.4150C>T (p.Gln1384Ter)
|
|
|
NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter)
|
rs745704336
|
|
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.1657-1G>A
|
rs2140873364
|
|
NM_001329943.3(KIAA0586):c.1884+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.1957C>T (p.Gln653Ter)
|
rs2140886548
|
|
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.3793dup (p.Ile1265fs)
|
|
|
NM_001329943.3(KIAA0586):c.3859-3_3865del
|
|
|
NM_001329943.3(KIAA0586):c.3991-1G>A
|
|
|
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs)
|
rs886039809
|
|
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs)
|
rs867342730
|
|
NM_001329943.3(KIAA0586):c.425del (p.Pro142fs)
|
|
|
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
|
|
|
NM_001329943.3(KIAA0586):c.787C>T (p.Gln263Ter)
|
rs985118235
|
|
NM_001329943.3(KIAA0586):c.807+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.887A>G (p.Tyr296Cys)
|
|
|
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser)
|
rs759799287
|
|
NM_001352754.2(ARMC9):c.1474+1G>C
|
rs1114167448
|
|
NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu)
|
rs1114167449
|
|
NM_001352754.2(ARMC9):c.178-2A>C
|
rs1248147660
|
|
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter)
|
rs372770167
|
|
NM_001352754.2(ARMC9):c.51+5G>T
|
rs1114167447
|
|
NM_001375405.1(CEP120):c.50-2113_206+103del
|
|
|
NM_001378615.1(CC2D2A):c.1018-1G>A
|
rs1716886666
|
|
NM_001378615.1(CC2D2A):c.123+2T>G
|
|
|
NM_001378615.1(CC2D2A):c.124-1G>C
|
|
|
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
|
rs1560166511
|
|
NM_001378615.1(CC2D2A):c.1359+1G>C
|
|
|
NM_001378615.1(CC2D2A):c.1466+1G>A
|
|
|
NM_001378615.1(CC2D2A):c.1466+2T>C
|
rs770219362
|
|
NM_001378615.1(CC2D2A):c.1467-1G>A
|
|
|
NM_001378615.1(CC2D2A):c.1608-2A>G
|
|
|
NM_001378615.1(CC2D2A):c.1676T>G (p.Leu559Arg)
|
rs754221308
|
|
NM_001378615.1(CC2D2A):c.1765-1G>C
|
|
|
NM_001378615.1(CC2D2A):c.2004-1G>A
|
|
|
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)
|
rs763596840
|
|
NM_001378615.1(CC2D2A):c.2338+2T>C
|
|
|
NM_001378615.1(CC2D2A):c.247+1G>A
|
rs765072583
|
|
NM_001378615.1(CC2D2A):c.248-1G>A
|
rs2108998253
|
|
NM_001378615.1(CC2D2A):c.2486+1G>A
|
|
|
NM_001378615.1(CC2D2A):c.2774G>T (p.Arg925Leu)
|
|
|
NM_001378615.1(CC2D2A):c.2830-1G>A
|
|
|
NM_001378615.1(CC2D2A):c.2923-1G>A
|
|
|
NM_001378615.1(CC2D2A):c.3015-1G>C
|
|
|
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs)
|
rs1560184664
|
|
NM_001378615.1(CC2D2A):c.3182+1G>A
|
|
|
NM_001378615.1(CC2D2A):c.3183-1G>T
|
rs1719930798
|
|
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs)
|
rs2109070129
|
|
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)
|
rs1719933188
|
|
NM_001378615.1(CC2D2A):c.3310G>A (p.Glu1104Lys)
|
rs2109070604
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg)
|
rs886059182
|
|
NM_001378615.1(CC2D2A):c.337-2A>C
|
|
|
NM_001378615.1(CC2D2A):c.3399-1G>C
|
|
|
NM_001378615.1(CC2D2A):c.3399-3C>A
|
rs386833753
|
|
NM_001378615.1(CC2D2A):c.3595-1G>T
|
|
|
NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu)
|
rs1720595936
|
|
NM_001378615.1(CC2D2A):c.3975+1G>T
|
|
|
NM_001378615.1(CC2D2A):c.3975+2T>G
|
|
|
NM_001378615.1(CC2D2A):c.3976-3C>A
|
rs576298659
|
|
NM_001378615.1(CC2D2A):c.4065+1G>A
|
|
|
NM_001378615.1(CC2D2A):c.4065+2T>C
|
rs1179041639
|
|
NM_001378615.1(CC2D2A):c.4066-1G>A
|
rs867390302
|
|
NM_001378615.1(CC2D2A):c.4179+1G>A
|
rs886044295
|
|
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)
|
rs863225176
|
|
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
|
|
|
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)
|
rs863225168
|
|
NM_001378615.1(CC2D2A):c.4303_4314+1del
|
|
|
NM_001378615.1(CC2D2A):c.438+1G>T
|
rs1453265480
|
|
NM_001378615.1(CC2D2A):c.4582C>A (p.Arg1528Ser)
|
|
|
NM_001378615.1(CC2D2A):c.540+1G>A
|
rs1296652053
|
|
NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs)
|
rs1392635342
|
|
NM_001378615.1(CC2D2A):c.717+1G>A
|
|
|
NM_001378615.1(CC2D2A):c.717+1G>T
|
rs1027674181
|
|
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.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.1985dup (p.Leu663fs)
|
rs2150435584
|
|
NM_001384732.1(CPLANE1):c.2278C>T (p.Gln760Ter)
|
rs762334514
|
|
NM_001384732.1(CPLANE1):c.2666C>T (p.Ala889Val)
|
rs2150361119
|
|
NM_001384732.1(CPLANE1):c.2854_2855insCT (p.Asn952fs)
|
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs)
|
rs2150128669
|
|
NM_001384732.1(CPLANE1):c.3094_3095del (p.Val1032fs)
|
|
|
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs)
|
rs1561584225
|
|
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu)
|
rs141153181
|
|
NM_001384732.1(CPLANE1):c.3835_3836del (p.Leu1279fs)
|
|
|
NM_001384732.1(CPLANE1):c.4643A>G (p.Asp1548Gly)
|
rs759649053
|
|
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs)
|
rs777045246
|
|
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer)
|
rs962476553
|
|
NM_001384732.1(CPLANE1):c.5738-2A>G
|
rs565629362
|
|
NM_001384732.1(CPLANE1):c.6114del (p.Asp2039fs)
|
|
|
NM_001384732.1(CPLANE1):c.6286C>T (p.Gln2096Ter)
|
rs2150954061
|
|
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs)
|
rs747815682
|
|
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs)
|
rs1779035528
|
|
NM_001384732.1(CPLANE1):c.7533G>A (p.Lys2511=)
|
rs753791198
|
|
NM_001384732.1(CPLANE1):c.7588+3A>G
|
|
|
NM_001384732.1(CPLANE1):c.767C>A (p.Ala256Asp)
|
rs1799919744
|
|
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)
|
rs863225159
|
|
NM_001384732.1(CPLANE1):c.834+1G>A
|
rs1581014582
|
|
NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs)
|
rs1579740974
|
|
NM_001384732.1(CPLANE1):c.994_996del (p.Met332del)
|
rs1797611349
|
|
NM_001384732.1(CPLANE1):c.[2854_2855insCT;3599C>T]
|
|
|
NM_002601.4(PDE6D):c.257del (p.Cys86fs)
|
rs2048717087
|
|
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)
|
rs1559307932
|
|
NM_003611.3(OFD1):c.1220_1221+1del
|
|
|
NM_003611.3(OFD1):c.1221_1221+13del
|
rs2147016815
|
|
NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
|
|
|
NM_003611.3(OFD1):c.2261-6C>G
|
rs769923969
|
|
NM_003611.3(OFD1):c.2387+1G>A
|
rs2047914412
|
|
NM_003611.3(OFD1):c.2388-1G>A
|
|
|
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter)
|
rs2147060430
|
|
NM_003611.3(OFD1):c.2600-5_2600del
|
|
|
NM_003611.3(OFD1):c.312+1G>T
|
rs1569102786
|
|
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del)
|
rs1131691889
|
|
NM_003611.3(OFD1):c.935+1G>C
|
|
|
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)
|
rs1555904005
|
|
NM_006346.4(PIBF1):c.1056_1068del (p.Lys353fs)
|
|
|
NM_006346.4(PIBF1):c.1150_1151insCAGATTGAAAACCAACCAAGAAATTGATCAGCTTCG (p.Ile384delinsThrAspTer)
|
rs2138204996
|
|
NM_006346.4(PIBF1):c.1669del (p.Leu557fs)
|
rs863225214
|
|
NM_006346.4(PIBF1):c.1731-1G>A
|
|
|
NM_006346.4(PIBF1):c.597_598insAAGAAAGGAATCCATTAAGAAAG (p.Glu200delinsLysLysGlyIleHisTer)
|
rs2137980593
|
|
NM_014704.4(CEP104):c.300_301del (p.Leu100_Cys101insTer)
|
rs1484807480
|
|
NM_014804.3(KIAA0753):c.1481del (p.Lys494fs)
|
rs766831438
|
|
NM_014804.3(KIAA0753):c.2333T>C (p.Met778Thr)
|
|
|
NM_015202.5(KATNIP):c.1672C>T (p.Arg558Ter)
|
rs757493420
|
|
NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter)
|
rs864309712
|
|
NM_015202.5(KATNIP):c.274_275del (p.Phe92fs)
|
|
|
NM_015202.5(KATNIP):c.2959del (p.Asp987fs)
|
rs770446723
|
|
NM_015202.5(KATNIP):c.3632-1G>C
|
|
|
NM_015202.5(KATNIP):c.4133+1G>A
|
rs2144173006
|
|
NM_015202.5(KATNIP):c.922C>T (p.Gln308Ter)
|
rs145247651
|
|
NM_015272.5(RPGRIP1L):c.1030-1G>T
|
rs2151236867
|
|
NM_015272.5(RPGRIP1L):c.1104-2A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)
|
rs797045918
|
|
NM_015272.5(RPGRIP1L):c.1243+2T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs)
|
rs749987648
|
|
NM_015272.5(RPGRIP1L):c.1350+1G>A
|
rs761435025
|
|
NM_015272.5(RPGRIP1L):c.1350+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.1351-2A>C
|
|
|
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs)
|
rs760952407
|
|
NM_015272.5(RPGRIP1L):c.1581+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.1581+2T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1582-1G>C
|
rs750917538
|
|
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)
|
rs1966902456
|
|
NM_015272.5(RPGRIP1L):c.1897T>C (p.Cys633Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)
|
rs1037406858
|
|
NM_015272.5(RPGRIP1L):c.2152+1G>C
|
rs1006433886
|
|
NM_015272.5(RPGRIP1L):c.2180G>A (p.Gly727Asp)
|
rs546150528
|
|
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)
|
rs767686118
|
|
NM_015272.5(RPGRIP1L):c.230+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.2304+1G>A
|
|
|
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.2683+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.2683+2T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2684-1G>A
|
rs2151060257
|
|
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs)
|
rs1966218490
|
|
NM_015272.5(RPGRIP1L):c.2875-2A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2891del (p.Pro964fs)
|
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>T
|
rs2151056579
|
|
NM_015272.5(RPGRIP1L):c.2959-16_2960del
|
|
|
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs)
|
rs767018622
|
|
NM_015272.5(RPGRIP1L):c.3187G>T (p.Glu1063Ter)
|
rs1057520162
|
|
NM_015272.5(RPGRIP1L):c.3295-2A>G
|
rs1258182460
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
NM_015272.5(RPGRIP1L):c.3432+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.3432+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.3432+2T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3433-1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.3433-7_3436del
|
rs2150964847
|
|
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)
|
rs1567800920
|
|
NM_015272.5(RPGRIP1L):c.3616+1G>A
|
rs1964549409
|
|
NM_015272.5(RPGRIP1L):c.3616+2T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3616+2del
|
rs1964549329
|
|
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.441_529+79delinsTGCT
|
|
|
NM_015272.5(RPGRIP1L):c.529+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.530-1G>C
|
rs2151325787
|
|
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)
|
rs564992297
|
|
NM_015272.5(RPGRIP1L):c.632+1G>A
|
rs1376397728
|
|
NM_015272.5(RPGRIP1L):c.632+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.632+2T>C
|
rs2151325186
|
|
NM_015272.5(RPGRIP1L):c.633-1G>C
|
rs2151318564
|
|
NM_015272.5(RPGRIP1L):c.776+1G>C
|
|
|
NM_015272.5(RPGRIP1L):c.776+2T>C
|
rs2151317483
|
|
NM_015272.5(RPGRIP1L):c.85+2del
|
|
|
NM_015272.5(RPGRIP1L):c.883-2A>G
|
rs1598375731
|
|
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs)
|
rs757594906
|
|
NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs)
|
rs2139731384
|
|
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)
|
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)
|
rs553175533
|
|
NM_015631.6(TCTN3):c.737-1G>C
|
|
|
NM_015631.6(TCTN3):c.853-2A>G
|
|
|
NM_015631.6(TCTN3):c.969+2T>G
|
|
|
NM_015631.6(TCTN3):c.970-2A>G
|
rs777263669
|
|
NM_015681.6(B9D1):c.342-1G>T
|
|
|
NM_015681.6(B9D1):c.529G>C (p.Asp177His)
|
rs1309922077
|
|
NM_016169.4(SUFU):c.1023-2A>T
|
rs1060501105
|
|
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.1025-2A>G
|
|
|
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
|
|
|
NM_017777.4(MKS1):c.1071del (p.Cys358fs)
|
rs762377424
|
|
NM_017777.4(MKS1):c.1095+2T>C
|
rs2143756871
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1166-1G>C
|
rs776174898
|
|
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.1274-2A>C
|
|
|
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
|
|
|
NM_017777.4(MKS1):c.1389G>T (p.Arg463=)
|
rs773269657
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1399_1407+4del
|
rs2143742869
|
|
NM_017777.4(MKS1):c.1407+1G>A
|
rs1567795088
|
|
NM_017777.4(MKS1):c.1408-2A>G
|
rs1555596943
|
|
NM_017777.4(MKS1):c.1408-2_1408-1del
|
|
|
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.1489_1490+18delinsGCTTGCACTGTCTGCAGCAG
|
|
|
NM_017777.4(MKS1):c.1490+1G>A
|
rs2143737350
|
|
NM_017777.4(MKS1):c.1490+1G>T
|
|
|
NM_017777.4(MKS1):c.1522_1638del117 (p.Arg508_Leu546del)
|
|
|
NM_017777.4(MKS1):c.1589-2A>G
|
|
|
NM_017777.4(MKS1):c.1589-2A>T
|
rs863225207
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.190+1G>A
|
|
|
NM_017777.4(MKS1):c.1A>G (p.Met1Val)
|
rs1555601787
|
|
NM_017777.4(MKS1):c.240G>T (p.Trp80Cys)
|
rs1114167302
|
|
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.516-2A>G
|
rs2143805609
|
|
NM_017777.4(MKS1):c.528_644+12del
|
|
|
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.81-2A>G
|
|
|
NM_017777.4(MKS1):c.81-2A>T
|
rs756709080
|
|
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.859-2A>C
|
|
|
NM_017777.4(MKS1):c.859-2A>T
|
|
|
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
|
|
|
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
|
|
|
NM_017777.4(MKS1):c.959-1G>A
|
|
|
NM_017777.4(MKS1):c.959-2A>G
|
rs1273591389
|
|
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.1073C>T (p.Pro358Leu)
|
rs1835755632
|
|
NM_019892.6(INPP5E):c.1156T>C (p.Ser386Pro)
|
|
|
NM_019892.6(INPP5E):c.1280-2A>C
|
|
|
NM_019892.6(INPP5E):c.1312G>A (p.Asp438Asn)
|
rs1835733198
|
|
NM_019892.6(INPP5E):c.1368C>A (p.Asn456Lys)
|
|
|
NM_019892.6(INPP5E):c.1564G>C (p.Gly522Arg)
|
rs2131605763
|
|
NM_019892.6(INPP5E):c.1740G>C (p.Lys580Asn)
|
|
|
NM_019892.6(INPP5E):c.1747G>T (p.Asp583Tyr)
|
rs756888841
|
|
NM_019892.6(INPP5E):c.1762T>C (p.Tyr588His)
|
|
|
NM_019892.6(INPP5E):c.1862G>T (p.Arg621Leu)
|
rs1588830568
|
|
NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter)
|
rs763184652
|
|
NM_019892.6(INPP5E):c.874C>T (p.Arg292Cys)
|
|
|
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]
|
|
|
NM_024809.5(TCTN2):c.1033+1G>A
|
|
|
NM_024809.5(TCTN2):c.1312+1G>C
|
|
|
NM_024809.5(TCTN2):c.1751T>C (p.Ile584Thr)
|
|
|
NM_024809.5(TCTN2):c.1752A>G (p.Ile584Met)
|
|
|
NM_024809.5(TCTN2):c.1770-2A>G
|
rs1566265412
|
|
NM_024809.5(TCTN2):c.1877dup (p.Leu626fs)
|
|
|
NM_024809.5(TCTN2):c.268-2A>G
|
|
|
NM_024809.5(TCTN2):c.565-1G>A
|
|
|
NM_024809.5(TCTN2):c.613G>A (p.Gly205Ser)
|
|
|
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys)
|
rs201827132
|
|
NM_024809.5(TCTN2):c.765-1G>A
|
|
|
NM_024809.5(TCTN2):c.765-1G>C
|
|
|
NM_024809.5(TCTN2):c.82+1G>T
|
|
|
NM_024809.5(TCTN2):c.83-2A>G
|
|
|
NM_024809.5(TCTN2):c.891+1G>A
|
|
|
NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)
|
|
|
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter)
|
rs1056125920
|
|
NM_025114.4(CEP290):c.102+2T>A
|
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1065+1G>A
|
|
|
NM_025114.4(CEP290):c.1065+1G>C
|
rs2138021203
|
|
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.1360-1G>C
|
|
|
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)
|
|
|
NM_025114.4(CEP290):c.148C>T (p.His50Tyr)
|
rs878853363
|
|
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)
|
rs1434632102
|
|
NM_025114.4(CEP290):c.1523-1G>T
|
rs1192112844
|
|
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)
|
rs1465414886
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.1910-1G>A
|
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2041_2052+23del
|
rs2137779120
|
|
NM_025114.4(CEP290):c.2052+1G>A
|
|
|
NM_025114.4(CEP290):c.2052+4A>T
|
|
|
NM_025114.4(CEP290):c.2217+1G>T
|
|
|
NM_025114.4(CEP290):c.2217+2T>C
|
rs2038702746
|
|
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer)
|
rs2137710225
|
|
NM_025114.4(CEP290):c.2367+2T>C
|
rs2137707354
|
|
NM_025114.4(CEP290):c.2483+1G>A
|
rs2137661795
|
|
NM_025114.4(CEP290):c.250+1G>A
|
|
|
NM_025114.4(CEP290):c.251-1G>C
|
rs2138259162
|
|
NM_025114.4(CEP290):c.251-2A>G
|
rs951979448
|
|
NM_025114.4(CEP290):c.2586_2586+4del
|
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.2817+1G>T
|
|
|
NM_025114.4(CEP290):c.2992-2A>C
|
|
|
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)
|
rs2137423759
|
|
NM_025114.4(CEP290):c.3103+1G>A
|
|
|
NM_025114.4(CEP290):c.3104-2A>G
|
rs773386777
|
|
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
|
rs886042467
|
|
NM_025114.4(CEP290):c.3285del (p.Phe1095fs)
|
rs1017496924
|
|
NM_025114.4(CEP290):c.3461+1G>A
|
rs766952056
|
|
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)
|
rs2036977719
|
|
NM_025114.4(CEP290):c.3573+1G>A
|
|
|
NM_025114.4(CEP290):c.3574-1G>A
|
|
|
NM_025114.4(CEP290):c.3574-2A>G
|
|
|
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.4030-2A>G
|
rs2036722229
|
|
NM_025114.4(CEP290):c.4194+1G>C
|
|
|
NM_025114.4(CEP290):c.4194+2T>A
|
rs2137247685
|
|
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)
|
rs797044604
|
|
NM_025114.4(CEP290):c.441+1G>A
|
|
|
NM_025114.4(CEP290):c.441+1G>C
|
|
|
NM_025114.4(CEP290):c.442-1G>A
|
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
NM_025114.4(CEP290):c.4704+1G>A
|
|
|
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)
|
rs1592836704
|
|
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.4812+1G>A
|
rs2137167420
|
|
NM_025114.4(CEP290):c.4812+1G>T
|
|
|
NM_025114.4(CEP290):c.5013-1G>A
|
|
|
NM_025114.4(CEP290):c.516+1G>A
|
|
|
NM_025114.4(CEP290):c.5227-2A>G
|
|
|
NM_025114.4(CEP290):c.5586+1G>C
|
rs2035880971
|
|
NM_025114.4(CEP290):c.5586+1G>T
|
rs2035880971
|
|
NM_025114.4(CEP290):c.5587-14_5588del
|
|
|
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.5856-1_5856delinsTT
|
rs2136958216
|
|
NM_025114.4(CEP290):c.5856-2A>C
|
|
|
NM_025114.4(CEP290):c.6011+2T>G
|
|
|
NM_025114.4(CEP290):c.6270+1G>T
|
|
|
NM_025114.4(CEP290):c.6270+2T>C
|
|
|
NM_025114.4(CEP290):c.6271-6_6274del
|
rs2034579427
|
|
NM_025114.4(CEP290):c.6357+1G>A
|
rs1196938557
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6818+2T>C
|
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.6961-1G>T
|
rs2136637204
|
|
NM_025114.4(CEP290):c.6961-3_6965del
|
|
|
NM_025114.4(CEP290):c.7130-1G>A
|
|
|
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
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025114.4(CEP290):c.832_852+19del
|
rs2138082472
|
|
NM_025114.4(CEP290):c.853-2A>G
|
|
|
NM_025114.4(CEP290):c.853-2A>T
|
|
|
NM_025114.4(CEP290):c.942+1G>A
|
rs2039897317
|
|
NM_025114.4(CEP290):c.942+1G>C
|
rs2039897317
|
|
NM_025114.4(CEP290):c.943-1G>A
|
rs2138025029
|
|
NM_025114.4(CEP290):c.943-1G>C
|
rs2138025029
|
|
NM_025139.4(ARMC9):c.1211_1334del
|
|
|
NM_030578.4(B9D2):c.156_163del (p.Asp53fs)
|
rs786204189
|
|
NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys)
|
rs754370463
|
|
NM_153704.6(TMEM67):c.1066-1G>A
|
|
|
NM_153704.6(TMEM67):c.1132-1G>T
|
|
|
NM_153704.6(TMEM67):c.1132-2A>G
|
|
|
NM_153704.6(TMEM67):c.1288+1G>A
|
|
|
NM_153704.6(TMEM67):c.1289-16_1289-12del
|
|
|
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu)
|
rs386834183
|
|
NM_153704.6(TMEM67):c.1518+2T>C
|
|
|
NM_153704.6(TMEM67):c.1575+5G>A
|
rs1554555063
|
|
NM_153704.6(TMEM67):c.1576-2del
|
|
|
NM_153704.6(TMEM67):c.1645C>A (p.Arg549Ser)
|
|
|
NM_153704.6(TMEM67):c.1674+1G>A
|
rs1211156516
|
|
NM_153704.6(TMEM67):c.1675-1G>T
|
|
|
NM_153704.6(TMEM67):c.1771A>G (p.Lys591Glu)
|
|
|
NM_153704.6(TMEM67):c.1774-6_1774-3inv
|
|
|
NM_153704.6(TMEM67):c.1861-1G>A
|
|
|
NM_153704.6(TMEM67):c.2018T>C (p.Val673Ala)
|
|
|
NM_153704.6(TMEM67):c.2086C>G (p.Leu696Val)
|
rs863225238
|
|
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)
|
rs863225238
|
|
NM_153704.6(TMEM67):c.2128A>G (p.Met710Val)
|
rs112261772
|
|
NM_153704.6(TMEM67):c.223+1G>C
|
|
|
NM_153704.6(TMEM67):c.2322+1G>T
|
|
|
NM_153704.6(TMEM67):c.2322+5del
|
rs863225240
|
|
NM_153704.6(TMEM67):c.2327C>T (p.Ser776Leu)
|
|
|
NM_153704.6(TMEM67):c.233G>T (p.Cys78Phe)
|
|
|
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)
|
rs1815059174
|
|
NM_153704.6(TMEM67):c.2661+5G>A
|
rs863225239
|
|
NM_153704.6(TMEM67):c.2764+2T>G
|
|
|
NM_153704.6(TMEM67):c.2879C>T (p.Ala960Val)
|
|
|
NM_153704.6(TMEM67):c.296A>G (p.Lys99Arg)
|
|
|
NM_153704.6(TMEM67):c.313-3T>G
|
rs1586336362
|
|
NM_153704.6(TMEM67):c.329A>T (p.Asp110Val)
|
|
|
NM_153704.6(TMEM67):c.371A>C (p.Glu124Ala)
|
|
|
NM_153704.6(TMEM67):c.406+1G>A
|
|
|
NM_153704.6(TMEM67):c.406G>C (p.Val136Leu)
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rs1812685381
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NM_153704.6(TMEM67):c.407-1G>T
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NM_153704.6(TMEM67):c.407-2A>G
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rs2130576231
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NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro)
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rs775716868
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NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)
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rs868404889
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NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)
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NM_153704.6(TMEM67):c.576+2T>C
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NM_153704.6(TMEM67):c.577-12_577-1delinsAA
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NM_153704.6(TMEM67):c.749G>A (p.Gly250Glu)
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NM_153704.6(TMEM67):c.754A>G (p.Met252Val)
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NM_153704.6(TMEM67):c.869+1G>C
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NM_153704.6(TMEM67):c.978+1G>A
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rs1563458773
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NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter)
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NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs)
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rs1589150410
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Single allele
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