NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)
|
rs143389605
|
0.00055
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_020320.5(RARS2):c.773G>A (p.Arg258His)
|
rs145297855
|
0.00044
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_020320.5(RARS2):c.472_474del (p.Lys158del)
|
rs757743894
|
0.00016
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_005559.4(LAMA1):c.858+1G>T
|
rs141914419
|
0.00012
|
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)
|
rs759799287
|
0.00011
|
NM_018082.6(POLR3B):c.2084-6A>G
|
rs747912710
|
0.00011
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_001368809.2(AMPD2):c.520G>T (p.Glu174Ter)
|
rs753591864
|
0.00008
|
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly)
|
rs142217951
|
0.00006
|
NM_016955.4(SEPSECS):c.1A>G (p.Met1Val)
|
rs1025711998
|
0.00006
|
NM_016955.4(SEPSECS):c.388+3A>G
|
rs757504141
|
0.00006
|
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)
|
rs775295739
|
0.00006
|
NM_020320.5(RARS2):c.1564G>A (p.Val522Ile)
|
rs201386427
|
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_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter)
|
rs745870736
|
0.00005
|
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)
|
rs765088174
|
0.00005
|
NM_025077.4(TOE1):c.757C>T (p.Arg253Trp)
|
rs368182654
|
0.00005
|
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)
|
rs781180515
|
0.00005
|
NM_001077418.3(TMEM231):c.438+5G>C
|
rs1472951348
|
0.00004
|
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter)
|
rs760433806
|
0.00004
|
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)
|
rs755097302
|
0.00004
|
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)
|
rs1277577195
|
0.00004
|
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)
|
rs146539065
|
0.00004
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile)
|
rs755312623
|
0.00004
|
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter)
|
rs199835443
|
0.00004
|
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)
|
rs753666055
|
0.00004
|
NM_025265.4(TSEN2):c.1099+1G>A
|
rs149417061
|
0.00004
|
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)
|
rs148670389
|
0.00004
|
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)
|
rs376555896
|
0.00003
|
NM_001128159.3(VPS53):c.1312_1313+2del
|
rs768997239
|
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_001286535.2(RAD9B):c.28A>G (p.Ser10Gly)
|
rs372056091
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1244-1G>T
|
rs1306595038
|
0.00003
|
NM_015891.3(CDC40):c.1505T>G (p.Phe502Cys)
|
rs779945821
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_020320.5(RARS2):c.1679G>A (p.Arg560His)
|
rs756502974
|
0.00003
|
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
NM_025077.4(TOE1):c.219G>C (p.Arg73Ser)
|
rs774056037
|
0.00003
|
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr)
|
rs148067486
|
0.00003
|
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)
|
rs143604970
|
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_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)
|
rs778210210
|
0.00002
|
NM_001173990.3(TMEM216):c.35-2A>G
|
rs1057517528
|
0.00002
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)
|
rs200444162
|
0.00002
|
NM_003384.3(VRK1):c.216+1G>C
|
rs774518440
|
0.00002
|
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)
|
rs144610914
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs)
|
rs749987648
|
0.00002
|
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)
|
rs745688122
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016059.5(PPIL1):c.280+1G>A
|
rs374639625
|
0.00002
|
NM_016955.4(SEPSECS):c.389-1G>A
|
rs754373273
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_018082.6(POLR3B):c.1263+2T>C
|
rs774526181
|
0.00002
|
NM_020320.5(RARS2):c.160_161del (p.Asp53_Asn54insTer)
|
rs756101515
|
0.00002
|
NM_025077.4(TOE1):c.1018C>T (p.Arg340Ter)
|
rs761932920
|
0.00002
|
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)
|
rs755246924
|
0.00002
|
NM_031307.4(PUS3):c.578G>A (p.Arg193Gln)
|
rs576405108
|
0.00002
|
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)
|
rs201237799
|
0.00002
|
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter)
|
rs758716466
|
0.00002
|
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)
|
rs774157225
|
0.00002
|
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)
|
rs775267348
|
0.00001
|
NM_001044385.3(TMEM237):c.136+1G>T
|
rs778823927
|
0.00001
|
NM_001128159.3(VPS53):c.1556+5G>A
|
rs587777466
|
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.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_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr)
|
rs755786784
|
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_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)
|
rs780265931
|
0.00001
|
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)
|
rs587777395
|
0.00001
|
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp)
|
rs776868175
|
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_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.3673-1G>C
|
rs886041688
|
0.00001
|
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg)
|
rs869312898
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003384.3(VRK1):c.889+1G>T
|
rs1482696609
|
0.00001
|
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His)
|
rs1023010218
|
0.00001
|
NM_005559.4(LAMA1):c.184C>T (p.Arg62Ter)
|
rs758223206
|
0.00001
|
NM_005559.4(LAMA1):c.767G>A (p.Arg256His)
|
rs748576952
|
0.00001
|
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)
|
rs886042002
|
0.00001
|
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe)
|
rs911707459
|
0.00001
|
NM_014846.4(WASHC5):c.2505-1G>C
|
rs953586472
|
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.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_015631.6(TCTN3):c.1203+1G>C
|
rs1221992171
|
0.00001
|
NM_015631.6(TCTN3):c.627+1G>A
|
rs1566074908
|
0.00001
|
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)
|
rs1325914775
|
0.00001
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter)
|
rs1774516234
|
0.00001
|
NM_016059.5(PPIL1):c.233A>G (p.Tyr78Cys)
|
rs1774173253
|
0.00001
|
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala)
|
rs553128312
|
0.00001
|
NM_016059.5(PPIL1):c.392G>A (p.Arg131Gln)
|
rs765668519
|
0.00001
|
NM_016111.4(TELO2):c.682+1G>A
|
rs779227414
|
0.00001
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
NM_016955.4(SEPSECS):c.1148dup (p.His383fs)
|
rs761072755
|
0.00001
|
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)
|
rs267607035
|
0.00001
|
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter)
|
rs779387647
|
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_018082.6(POLR3B):c.1857-2A>C
|
rs267608686
|
0.00001
|
NM_018082.6(POLR3B):c.2104C>T (p.Arg702Ter)
|
rs201401034
|
0.00001
|
NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr)
|
rs146513209
|
0.00001
|
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys)
|
rs371453512
|
0.00001
|
NM_018082.6(POLR3B):c.2413C>T (p.Arg805Ter)
|
rs1437442253
|
0.00001
|
NM_018082.6(POLR3B):c.2818-1G>T
|
rs1057520785
|
0.00001
|
NM_018082.6(POLR3B):c.308G>A (p.Arg103His)
|
rs780148992
|
0.00001
|
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys)
|
rs751459271
|
0.00001
|
NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter)
|
rs758437925
|
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_020320.5(RARS2):c.1156C>T (p.Arg386Ter)
|
rs199728745
|
0.00001
|
NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg)
|
rs764875815
|
0.00001
|
NM_020320.5(RARS2):c.1312A>T (p.Lys438Ter)
|
rs1419422047
|
0.00001
|
NM_020320.5(RARS2):c.1406G>A (p.Arg469His)
|
rs759331139
|
0.00001
|
NM_020320.5(RARS2):c.1415+2T>C
|
rs772989345
|
0.00001
|
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs)
|
rs863224183
|
0.00001
|
NM_020320.5(RARS2):c.1650+5G>A
|
rs750433723
|
0.00001
|
NM_020320.5(RARS2):c.297+2T>G
|
rs574343583
|
0.00001
|
NM_020320.5(RARS2):c.517G>A (p.Asp173Asn)
|
rs769045045
|
0.00001
|
NM_020320.5(RARS2):c.685C>T (p.Arg229Ter)
|
rs769473411
|
0.00001
|
NM_020320.5(RARS2):c.771+2T>G
|
rs771801398
|
0.00001
|
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln)
|
rs1258569046
|
0.00001
|
NM_025077.4(TOE1):c.237-2A>G
|
rs773776995
|
0.00001
|
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr)
|
rs371848318
|
0.00001
|
NM_025077.4(TOE1):c.518T>G (p.Val173Gly)
|
rs777030573
|
0.00001
|
NM_025077.4(TOE1):c.544C>T (p.Arg182Ter)
|
rs752569685
|
0.00001
|
NM_025077.4(TOE1):c.716T>C (p.Phe239Ser)
|
rs778263701
|
0.00001
|
NM_025077.4(TOE1):c.913-2A>G
|
rs779707076
|
0.00001
|
NM_025077.4(TOE1):c.955C>T (p.His319Tyr)
|
rs750266350
|
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_025233.7(COASY):c.1486-3C>G
|
rs577714887
|
0.00001
|
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg)
|
rs797046051
|
0.00001
|
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter)
|
rs376815626
|
0.00001
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)
|
rs200876642
|
0.00001
|
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr)
|
rs879253780
|
0.00001
|
NM_153240.5(NPHP3):c.2171+1G>A
|
rs1280230808
|
0.00001
|
NM_153240.5(NPHP3):c.2311-2A>G
|
rs1332659264
|
0.00001
|
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter)
|
rs1171657935
|
0.00001
|
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
|
|
|
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
|
|
|
NC_000008.10:g.(?_126079753)_(126096155_?)del
|
|
|
NC_000012.11:g.110950633C>G
|
|
|
NC_000014.8:g.(97313682_97319167)_(97322924_97326893)del
|
|
|
NC_000016.9:g.(?_75575228)_(75579413_?)dup
|
|
|
NC_000017.10:g.(?_411907)_(618097_?)del
|
|
|
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
|
|
|
NM_000368.5(TSC1):c.1033del (p.Thr345fs)
|
rs1564488264
|
|
NM_000368.5(TSC1):c.107-1G>C
|
|
|
NM_000368.5(TSC1):c.1264-2A>G
|
|
|
NM_000368.5(TSC1):c.2042-2A>G
|
rs118203628
|
|
NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)
|
|
|
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
|
|
|
NM_000368.5(TSC1):c.846del (p.Ala283fs)
|
rs1846010451
|
|
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)
|
rs762734007
|
|
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)
|
rs1555727841
|
|
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
|
|
|
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)
|
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter)
|
rs397514897
|
|
NM_000548.5(TSC2):c.138+5G>A
|
rs45481400
|
|
NM_000548.5(TSC2):c.225+1G>A
|
rs1567387207
|
|
NM_000548.5(TSC2):c.2318dup (p.Leu773fs)
|
rs1596350476
|
|
NM_000548.5(TSC2):c.2545+5G>C
|
rs1131691965
|
|
NM_000548.5(TSC2):c.2640-2A>G
|
rs137854380
|
|
NM_000548.5(TSC2):c.2859del (p.Lys954fs)
|
|
|
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3284+1dup
|
|
|
NM_000548.5(TSC2):c.3824del (p.Phe1275fs)
|
rs1185513978
|
|
NM_000548.5(TSC2):c.4146del (p.Ser1383fs)
|
|
|
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)
|
rs45471896
|
|
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)
|
rs1060499676
|
|
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro)
|
rs2151631825
|
|
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.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_001077446.4(TSEN34):c.862_865dup (p.Leu289fs)
|
rs1246937494
|
|
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln)
|
rs1556173896
|
|
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
|
|
|
NM_001128159.3(VPS53):c.1516C>T (p.Arg506Ter)
|
rs200594402
|
|
NM_001128159.3(VPS53):c.1704+1G>A
|
|
|
NM_001128159.3(VPS53):c.1787+1G>A
|
|
|
NM_001128159.3(VPS53):c.594del (p.Gln199fs)
|
|
|
NM_001128159.3(VPS53):c.692C>T (p.Pro231Leu)
|
rs1472685858
|
|
NM_001128159.3(VPS53):c.869G>A (p.Trp290Ter)
|
rs370828258
|
|
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.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.2037-1G>C
|
rs1784918128
|
|
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)
|
rs797045224
|
|
NM_001134831.2(AHI1):c.2492+5G>A
|
rs2128012406
|
|
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.430del (p.Glu144fs)
|
rs2128098409
|
|
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs)
|
rs780910490
|
|
NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter)
|
rs1732173818
|
|
NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter)
|
rs1734625225
|
|
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser)
|
rs1444255127
|
|
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_001199198.3(TBC1D23):c.1687+2T>A
|
rs1553731605
|
|
NM_001199198.3(TBC1D23):c.614_615del (p.Phe205fs)
|
rs2148861371
|
|
NM_001199198.3(TBC1D23):c.630del (p.Thr211fs)
|
rs1354130291
|
|
NM_001272071.2(AP1S2):c.-1+1G>A
|
rs1934288587
|
|
NM_001272071.2(AP1S2):c.21del (p.Phe7fs)
|
|
|
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs)
|
rs1933972061
|
|
NM_001286535.2(RAD9B):c.1060A>G (p.Ser354Gly)
|
rs747100389
|
|
NM_001286535.2(RAD9B):c.336A>G (p.Ile112Met)
|
rs1593037878
|
|
NM_001286535.2(RAD9B):c.645T>A (p.Phe215Leu)
|
rs1593083585
|
|
NM_001286535.2(RAD9B):c.661G>A (p.Gly221Arg)
|
rs763079713
|
|
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
|
|
|
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)
|
rs1114167352
|
|
NM_001367721.1(CASK):c.1510del (p.Thr504fs)
|
|
|
NM_001367721.1(CASK):c.1582+1G>A
|
rs2147179060
|
|
NM_001367721.1(CASK):c.1583-1G>T
|
|
|
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)
|
rs1555981717
|
|
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
|
|
|
NM_001367721.1(CASK):c.173-1G>A
|
|
|
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)
|
rs779508996
|
|
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp)
|
rs1569302194
|
|
NM_001367721.1(CASK):c.1999G>T (p.Gly667Ter)
|
|
|
NM_001367721.1(CASK):c.2039+1del
|
|
|
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)
|
rs587783361
|
|
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)
|
rs137852818
|
|
NM_001367721.1(CASK):c.2155+1G>C
|
rs1555977199
|
|
NM_001367721.1(CASK):c.2155G>A (p.Val719Met)
|
rs12842195
|
|
NM_001367721.1(CASK):c.2156-1G>A
|
rs1569291261
|
|
NM_001367721.1(CASK):c.2169A>G (p.Leu723=)
|
|
|
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)
|
rs398122844
|
|
NM_001367721.1(CASK):c.2317+5G>A
|
rs2147095645
|
|
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs)
|
rs1569288603
|
|
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala)
|
rs1569283243
|
|
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
|
|
|
NM_001367721.1(CASK):c.2678_2679del (p.Thr893fs)
|
|
|
NM_001367721.1(CASK):c.356+1G>T
|
rs2147736023
|
|
NM_001367721.1(CASK):c.359A>G (p.His120Arg)
|
rs1602550687
|
|
NM_001367721.1(CASK):c.506T>G (p.Leu169Ter)
|
rs2147495562
|
|
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp)
|
rs587783367
|
|
NM_001367721.1(CASK):c.725G>A (p.Trp242Ter)
|
rs2067016221
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys)
|
rs1602424843
|
|
NM_001367721.1(CASK):c.915+1G>A
|
rs2147368049
|
|
NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)
|
|
|
NM_001368809.2(AMPD2):c.1408-3_1418del
|
|
|
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln)
|
rs192669225
|
|
NM_001368809.2(AMPD2):c.1698+1G>A
|
rs1650988132
|
|
NM_001368809.2(AMPD2):c.1858C>A (p.Arg620Ser)
|
|
|
NM_001368809.2(AMPD2):c.1859G>T (p.Arg620Leu)
|
rs587777395
|
|
NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His)
|
rs774256040
|
|
NM_001368809.2(AMPD2):c.646del (p.Leu216fs)
|
|
|
NM_001368809.2(AMPD2):c.971G>T (p.Arg324Leu)
|
rs746332433
|
|
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_001383.6(DPH1):c.686T>C (p.Leu229Pro)
|
rs730882250
|
|
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter)
|
rs730882245
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.2666C>T (p.Ala889Val)
|
rs2150361119
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs)
|
rs2150128669
|
|
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.5337del (p.Ser1780fs)
|
rs777045246
|
|
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer)
|
rs962476553
|
|
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.7778G>A (p.Trp2593Ter)
|
rs863225159
|
|
NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs)
|
rs1579740974
|
|
NM_001519.4(BRF1):c.793_794delinsCATTTA (p.Thr265fs)
|
rs2141566255
|
|
NM_001759.4(CCND2):c.812C>A (p.Ser271Ter)
|
|
|
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)
|
rs587777620
|
|
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)
|
rs587777620
|
|
NM_001759.4(CCND2):c.851T>A (p.Val284Glu)
|
rs777786993
|
|
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)
|
rs1558939623
|
|
NM_002547.3(OPHN1):c.1081_1082insT (p.Glu361fs)
|
|
|
NM_002547.3(OPHN1):c.1105-13_1109del
|
rs2077502210
|
|
NM_002547.3(OPHN1):c.116_127del (p.Val39_Asp42del)
|
rs2078892867
|
|
NM_002547.3(OPHN1):c.1202-1G>A
|
rs2147456067
|
|
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys)
|
rs1602169116
|
|
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
|
|
|
NM_002547.3(OPHN1):c.1526+1G>A
|
rs2147429591
|
|
NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu)
|
rs2147404496
|
|
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn)
|
rs869312676
|
|
NM_002547.3(OPHN1):c.597+1del
|
|
|
NM_002547.3(OPHN1):c.598-1G>C
|
|
|
NM_002547.3(OPHN1):c.702+4A>G
|
rs2147481894
|
|
NM_002547.3(OPHN1):c.702+4A>T
|
rs2147481894
|
|
NM_002601.4(PDE6D):c.257del (p.Cys86fs)
|
rs2048717087
|
|
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)
|
rs1559307932
|
|
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg)
|
rs1060499542
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002768.5(CHMP1A):c.271C>T (p.Gln91Ter)
|
|
|
NM_002768.5(CHMP1A):c.28-2A>G
|
|
|
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)
|
rs1064794609
|
|
NM_003384.2(VRK1):c.318_889+1945del
|
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.1069-2A>G
|
|
|
NM_003384.3(VRK1):c.1094del (p.Ser365fs)
|
rs2139845854
|
|
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs)
|
rs2139845924
|
|
NM_003384.3(VRK1):c.156_160+3del
|
rs1566696845
|
|
NM_003384.3(VRK1):c.160+1G>T
|
rs2139749072
|
|
NM_003384.3(VRK1):c.161-2A>G
|
|
|
NM_003384.3(VRK1):c.216+1G>A
|
|
|
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu)
|
rs2139779062
|
|
NM_003384.3(VRK1):c.287-2A>C
|
|
|
NM_003384.3(VRK1):c.374+1G>T
|
|
|
NM_003384.3(VRK1):c.402_890-895del
|
|
|
NM_003384.3(VRK1):c.483+1G>A
|
|
|
NM_003384.3(VRK1):c.576+1G>A
|
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.710-1G>A
|
|
|
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)
|
rs1428656431
|
|
NM_003384.3(VRK1):c.812T>C (p.Val271Ala)
|
rs2139804166
|
|
NM_003384.3(VRK1):c.830+1G>C
|
|
|
NM_003384.3(VRK1):c.889+1G>A
|
rs1482696609
|
|
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
|
rs1566713184
|
|
NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
|
|
|
NM_003611.3(OFD1):c.2387+1G>A
|
rs2047914412
|
|
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter)
|
rs2147060430
|
|
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del)
|
rs1131691889
|
|
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)
|
rs1555904005
|
|
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)
|
rs180177041
|
|
NM_004897.5(MINPP1):c.1210C>T (p.Arg404Ter)
|
rs1311614264
|
|
NM_004897.5(MINPP1):c.157T>G (p.Tyr53Asp)
|
rs2131792567
|
|
NM_004897.5(MINPP1):c.75_94del (p.Leu27fs)
|
rs1323094107
|
|
NM_004897.5(MINPP1):c.851C>A (p.Ala284Asp)
|
rs748636033
|
|
NM_004897.5(MINPP1):c.940G>T (p.Glu314Ter)
|
|
|
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser)
|
rs749643952
|
|
NM_004958.4(MTOR):c.1078C>T (p.Arg360Trp)
|
|
|
NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg)
|
rs2100901805
|
|
NM_004958.4(MTOR):c.3945-26_4016dup
|
|
|
NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser)
|
rs2100609915
|
|
NM_004958.4(MTOR):c.4468T>C (p.Trp1490Arg)
|
rs2100566800
|
|
NM_004958.4(MTOR):c.4883G>A (p.Arg1628His)
|
rs777925640
|
|
NM_004958.4(MTOR):c.5005G>T (p.Ala1669Ser)
|
rs2100477650
|
|
NM_004958.4(MTOR):c.5911G>A (p.Ala1971Thr)
|
rs1057524049
|
|
NM_004958.4(MTOR):c.5912C>T (p.Ala1971Val)
|
rs2100414567
|
|
NM_004958.4(MTOR):c.6227G>A (p.Arg2076Gln)
|
rs2100402606
|
|
NM_004958.4(MTOR):c.6457A>G (p.Ile2153Val)
|
rs2100396600
|
|
NM_004958.4(MTOR):c.7292T>C (p.Leu2431Pro)
|
rs1057524044
|
|
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met)
|
rs1057519915
|
|
NM_004958.4(MTOR):c.7529G>T (p.Gly2510Val)
|
rs2100280361
|
|
NM_005027.4(PIK3R2):c.1056C>G (p.Phe352Leu)
|
rs1568636630
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005027.4(PIK3R2):c.1681A>G (p.Asn561Asp)
|
rs1057519801
|
|
NM_005027.4(PIK3R2):c.988T>G (p.Trp330Gly)
|
rs2043757489
|
|
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter)
|
rs372318863
|
|
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val)
|
rs1574509510
|
|
NM_005465.7(AKT3):c.230T>A (p.Leu77His)
|
rs2147921662
|
|
NM_005465.7(AKT3):c.237G>C (p.Trp79Cys)
|
rs2147921624
|
|
NM_005465.7(AKT3):c.548T>A (p.Val183Asp)
|
rs886041100
|
|
NM_005465.7(AKT3):c.685A>C (p.Asn229His)
|
rs530590989
|
|
NM_005465.7(AKT3):c.803T>C (p.Val268Ala)
|
rs1674673024
|
|
NM_005465.7(AKT3):c.964G>T (p.Asp322Tyr)
|
rs1064795602
|
|
NM_005559.4(LAMA1):c.281A>G (p.Gln94Arg)
|
rs2143782472
|
|
NM_005559.4(LAMA1):c.2935del (p.Arg979fs)
|
rs758601967
|
|
NM_005559.4(LAMA1):c.4715del (p.Gly1572fs)
|
|
|
NM_005559.4(LAMA1):c.4763del (p.Tyr1588fs)
|
|
|
NM_005559.4(LAMA1):c.5108dup (p.Glu1704fs)
|
|
|
NM_005559.4(LAMA1):c.5467C>T (p.Gln1823Ter)
|
rs2057730983
|
|
NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs)
|
rs2144018381
|
|
NM_005559.4(LAMA1):c.7195+2T>A
|
|
|
NM_005559.4(LAMA1):c.7452+1G>A
|
|
|
NM_005559.4(LAMA1):c.8062_8068dup (p.Leu2690fs)
|
rs1555643185
|
|
NM_005559.4(LAMA1):c.8208_8214delinsT (p.Lys2736_Ser2738delinsAsn)
|
rs2057544094
|
|
NM_005559.4(LAMA1):c.8668C>T (p.Gln2890Ter)
|
rs2143969631
|
|
NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter)
|
rs1480105908
|
|
NM_005559.4(LAMA1):c.876_882delinsCATTTA (p.Glu293fs)
|
rs2058035458
|
|
NM_005559.4(LAMA1):c.9197del (p.Phe3066fs)
|
rs1555640521
|
|
NM_005614.4(RHEB):c.119A>T (p.Glu40Val)
|
rs1554438588
|
|
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)
|
rs1057517858
|
|
NM_006009.4(TUBA1A):c.967G>A (p.Val323Met)
|
rs2121242709
|
|
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn)
|
rs1064793349
|
|
NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg)
|
rs1576935161
|
|
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr)
|
rs1724674149
|
|
NM_006218.4(PIK3CA):c.1345C>T (p.Pro449Ser)
|
rs1724674149
|
|
NM_006218.4(PIK3CA):c.1616C>G (p.Pro539Arg)
|
rs121913285
|
|
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)
|
rs121913275
|
|
NM_006218.4(PIK3CA):c.2173G>A (p.Asp725Asn)
|
|
|
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)
|
rs1057519929
|
|
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)
|
rs587776932
|
|
NM_006218.4(PIK3CA):c.3127A>C (p.Met1043Leu)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)
|
rs1724343994
|
|
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg)
|
rs1593910113
|
|
NM_006831.3(CLP1):c.419G>A (p.Arg140His)
|
rs587777616
|
|
NM_006831.3(CLP1):c.55C>T (p.Arg19Ter)
|
|
|
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)
|
rs777520196
|
|
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)
|
rs2147938135
|
|
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys)
|
rs1559720382
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014846.4(WASHC5):c.1151-2A>G
|
rs1563627853
|
|
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)
|
rs1554593901
|
|
NM_014846.4(WASHC5):c.186+1G>C
|
|
|
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser)
|
rs1060502725
|
|
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)
|
rs397515564
|
|
NM_014846.4(WASHC5):c.2954+3_2954+4delinsGC
|
|
|
NM_014846.4(WASHC5):c.3209del (p.Pro1070fs)
|
|
|
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)
|
|
|
NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro)
|
rs1660016633
|
|
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.3594G>A (p.Trp1198Ter)
|
rs1567800920
|
|
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.530-1G>C
|
rs2151325787
|
|
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)
|
rs564992297
|
|
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_016042.4(EXOSC3):c.226dup (p.Asp76fs)
|
|
|
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
|
|
|
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
|
|
|
NM_016042.4(EXOSC3):c.325-1G>T
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)
|
rs2118977758
|
|
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
|
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_016042.4(EXOSC3):c.624_626+1del
|
rs769374744
|
|
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
|
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016059.5(PPIL1):c.245T>C (p.Phe82Ser)
|
rs2150653717
|
|
NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr)
|
rs199818754
|
|
NM_016059.5(PPIL1):c.301_318dup (p.Ala101_Asp106dup)
|
rs2150653427
|
|
NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala)
|
rs1583103432
|
|
NM_016059.5(PPIL1):c.325G>T (p.Gly109Cys)
|
rs2150653422
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)
|
rs267607036
|
|
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs)
|
rs781277383
|
|
NM_016955.4(SEPSECS):c.114+3A>G
|
|
|
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter)
|
rs1309003036
|
|
NM_016955.4(SEPSECS):c.388+5G>A
|
rs1057518887
|
|
NM_016955.4(SEPSECS):c.466C>T (p.Arg156Ter)
|
rs1712612053
|
|
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_018082.5(POLR3B):c.[1568T>A];[1988C>T]
|
|
|
NM_018082.6(POLR3B):c.1028T>C (p.Ile343Thr)
|
|
|
NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu)
|
rs201153027
|
|
NM_018082.6(POLR3B):c.1464+1G>T
|
|
|
NM_018082.6(POLR3B):c.1612_1614del (p.Leu538del)
|
rs797045895
|
|
NM_018082.6(POLR3B):c.2099A>C (p.Asn700Thr)
|
rs2037839447
|
|
NM_018082.6(POLR3B):c.2809C>T (p.Arg937Ter)
|
|
|
NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter)
|
|
|
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
|
|
|
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_019024.3(HEATR5B):c.5050+4A>G
|
rs1667224478
|
|
NM_019024.3(HEATR5B):c.5051-1G>A
|
rs1667163007
|
|
NM_020320.5(RARS2):c.-2A>G
|
rs201150141
|
|
NM_020320.5(RARS2):c.1035+2T>G
|
|
|
NM_020320.5(RARS2):c.1037C>T (p.Thr346Ile)
|
rs1773402352
|
|
NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs)
|
rs756696262
|
|
NM_020320.5(RARS2):c.111-2A>G
|
|
|
NM_020320.5(RARS2):c.1113-2A>G
|
|
|
NM_020320.5(RARS2):c.1210A>G (p.Met404Val)
|
|
|
NM_020320.5(RARS2):c.1237+1G>C
|
|
|
NM_020320.5(RARS2):c.1238-2A>G
|
rs1167507020
|
|
NM_020320.5(RARS2):c.1261C>T (p.Gln421Ter)
|
|
|
NM_020320.5(RARS2):c.1305+2T>C
|
|
|
NM_020320.5(RARS2):c.1306-1G>A
|
|
|
NM_020320.5(RARS2):c.1315_1318del (p.Gly439fs)
|
|
|
NM_020320.5(RARS2):c.1319T>G (p.Leu440Ter)
|
|
|
NM_020320.5(RARS2):c.1340_1365del (p.Phe447fs)
|
rs1064795060
|
|
NM_020320.5(RARS2):c.1357_1358del (p.Phe453fs)
|
|
|
NM_020320.5(RARS2):c.1381_1385del (p.Val461fs)
|
|
|
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)
|
rs753312969
|
|
NM_020320.5(RARS2):c.1415+1G>A
|
|
|
NM_020320.5(RARS2):c.1416-2A>C
|
rs2127999204
|
|
NM_020320.5(RARS2):c.1423G>T (p.Glu475Ter)
|
rs886041639
|
|
NM_020320.5(RARS2):c.1425_1426del (p.Glu475fs)
|
|
|
NM_020320.5(RARS2):c.1471C>T (p.Gln491Ter)
|
|
|
NM_020320.5(RARS2):c.1480_1481del (p.Gln494fs)
|
rs776309120
|
|
NM_020320.5(RARS2):c.1490C>G (p.Ser497Ter)
|
|
|
NM_020320.5(RARS2):c.1511+1G>A
|
rs1772453347
|
|
NM_020320.5(RARS2):c.1512-1G>A
|
|
|
NM_020320.5(RARS2):c.1533del (p.Lys511fs)
|
rs2127994036
|
|
NM_020320.5(RARS2):c.1549C>T (p.Gln517Ter)
|
|
|
NM_020320.5(RARS2):c.1554del (p.Arg519fs)
|
rs754610170
|
|
NM_020320.5(RARS2):c.1568_1569delinsC (p.Ser523fs)
|
|
|
NM_020320.5(RARS2):c.156dup (p.Asp53fs)
|
|
|
NM_020320.5(RARS2):c.1583dup (p.Leu528fs)
|
|
|
NM_020320.5(RARS2):c.1612del (p.Thr538fs)
|
rs781417096
|
|
NM_020320.5(RARS2):c.1628_1631del (p.Asp543fs)
|
rs757778880
|
|
NM_020320.5(RARS2):c.1629_1630del (p.Asp543fs)
|
|
|
NM_020320.5(RARS2):c.1650+1G>T
|
|
|
NM_020320.5(RARS2):c.176_177del (p.Pro59fs)
|
|
|
NM_020320.5(RARS2):c.1A>G (p.Met1Val)
|
rs774923951
|
|
NM_020320.5(RARS2):c.1A>T (p.Met1Leu)
|
rs774923951
|
|
NM_020320.5(RARS2):c.233_234del (p.Val78fs)
|
rs1582712331
|
|
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
|
|
|
NM_020320.5(RARS2):c.277_280del (p.Asn93fs)
|
rs1326705217
|
|
NM_020320.5(RARS2):c.282_285del (p.Arg94fs)
|
rs767056243
|
|
NM_020320.5(RARS2):c.284_285del (p.Glu95fs)
|
rs767056243
|
|
NM_020320.5(RARS2):c.297+1G>C
|
|
|
NM_020320.5(RARS2):c.297+1G>T
|
|
|
NM_020320.5(RARS2):c.2T>G (p.Met1Arg)
|
rs199862050
|
|
NM_020320.5(RARS2):c.333del (p.Lys111fs)
|
|
|
NM_020320.5(RARS2):c.347_348delinsCTTATTAA (p.Ser116delinsThrTyrTer)
|
|
|
NM_020320.5(RARS2):c.36+1G>T
|
|
|
NM_020320.5(RARS2):c.36+2T>A
|
|
|
NM_020320.5(RARS2):c.370del (p.Gln124fs)
|
rs1554203400
|
|
NM_020320.5(RARS2):c.379_385del (p.Ile127fs)
|
|
|
NM_020320.5(RARS2):c.395+1G>A
|
|
|
NM_020320.5(RARS2):c.42del (p.Arg15fs)
|
rs777942571
|
|
NM_020320.5(RARS2):c.436_437delinsA (p.Arg146fs)
|
|
|
NM_020320.5(RARS2):c.449T>C (p.Ile150Thr)
|
rs1582576986
|
|
NM_020320.5(RARS2):c.452-1G>A
|
|
|
NM_020320.5(RARS2):c.45_46del (p.Arg15fs)
|
|
|
NM_020320.5(RARS2):c.474_477del (p.Glu159fs)
|
rs774755297
|
|
NM_020320.5(RARS2):c.535+2T>G
|
|
|
NM_020320.5(RARS2):c.536-1G>A
|
|
|
NM_020320.5(RARS2):c.53_60del (p.Asn18fs)
|
|
|
NM_020320.5(RARS2):c.598C>T (p.Gln200Ter)
|
|
|
NM_020320.5(RARS2):c.610_612+2del
|
|
|
NM_020320.5(RARS2):c.613-3927C>T
|
rs1410239766
|
|
NM_020320.5(RARS2):c.617del (p.Tyr206fs)
|
|
|
NM_020320.5(RARS2):c.633_636del (p.Glu212fs)
|
rs755936301
|
|
NM_020320.5(RARS2):c.699_700insACATC (p.Asp234fs)
|
rs745829550
|
|
NM_020320.5(RARS2):c.70_77del (p.Leu24fs)
|
|
|
NM_020320.5(RARS2):c.716C>G (p.Ser239Ter)
|
rs750319167
|
|
NM_020320.5(RARS2):c.723G>A (p.Trp241Ter)
|
|
|
NM_020320.5(RARS2):c.772-1G>A
|
rs2128057942
|
|
NM_020320.5(RARS2):c.798T>A (p.Tyr266Ter)
|
|
|
NM_020320.5(RARS2):c.829C>T (p.Gln277Ter)
|
|
|
NM_020320.5(RARS2):c.839T>G (p.Leu280Ter)
|
rs1256144022
|
|
NM_020320.5(RARS2):c.878+5G>T
|
|
|
NM_020320.5(RARS2):c.928dup (p.Ile310fs)
|
rs1360282089
|
|
NM_020320.5(RARS2):c.963_964del (p.Tyr322fs)
|
rs773838753
|
|
NM_020320.5(RARS2):c.997C>T (p.Arg333Ter)
|
rs927427873
|
|
NM_020320.5(RARS2):c.998del (p.Arg333fs)
|
|
|
NM_020320.5(RARS2):c.9C>A (p.Cys3Ter)
|
rs762495974
|
|
NM_021926.4(ALX4):c.16dup (p.Cys6fs)
|
rs746479735
|
|
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]
|
|
|
NM_025077.4(TOE1):c.1062del (p.Thr355fs)
|
rs2149260739
|
|
NM_025077.4(TOE1):c.1487C>T (p.Ser496Phe)
|
rs1570626350
|
|
NM_025077.4(TOE1):c.551G>T (p.Arg184Leu)
|
rs267598623
|
|
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys)
|
rs1570621473
|
|
NM_025077.4(TOE1):c.693T>A (p.Tyr231Ter)
|
rs1570621555
|
|
NM_025077.4(TOE1):c.937C>G (p.Pro313Ala)
|
rs1557531984
|
|
NM_025077.4(TOE1):c.957C>T (p.His319=)
|
rs758153898
|
|
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
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)
|
rs560987504
|
|
NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys)
|
rs1477347690
|
|
NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del)
|
rs797046052
|
|
NM_025265.4(TSEN2):c.904G>A (p.Glu302Lys)
|
rs1553587071
|
|
NM_025265.4(TSEN2):c.960+1_960+5del
|
rs886037738
|
|
NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro)
|
rs1114167296
|
|
NM_033026.6(PCLO):c.2532dup (p.Gln845fs)
|
rs1584071201
|
|
NM_138773.4(SLC25A46):c.479G>A (p.Trp160Ter)
|
rs1561602892
|
|
NM_139058.3(ARX):c.994C>T (p.Arg332Cys)
|
rs2147323593
|
|
NM_153240.5(NPHP3):c.1220_1221del (p.Ser407fs)
|
rs1404621140
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
NM_153240.5(NPHP3):c.1985+1G>A
|
rs1553773271
|
|
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val)
|
rs775281384
|
|
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del)
|
rs119456959
|
|
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)
|
rs747052534
|
|
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter)
|
rs1784370895
|
|
NM_153816.6(SNX14):c.1725del (p.Phe575fs)
|
rs1311909367
|
|
NM_153816.6(SNX14):c.2746-2A>G
|
|
|
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter)
|
rs1562374476
|
|
NM_153816.6(SNX14):c.44_45del (p.Arg15fs)
|
|
|
NM_153816.6(SNX14):c.462-589A>G
|
|
|
NM_177433.3(MAGED2):c.1003del (p.Gln335fs)
|
rs1114167295
|
|
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr)
|
rs1588563037
|
|
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)
|
rs773616244
|
|
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)
|
rs764339075
|
|
NM_182706.5(SCRIB):c.1177C>T (p.Gln393Ter)
|
rs2130127564
|
|
NM_207346.3(TSEN54):c.1216dup (p.Thr406fs)
|
rs2053437943
|
|
NM_207346.3(TSEN54):c.1335del (p.Leu446fs)
|
rs587784476
|
|
NM_207346.3(TSEN54):c.1511T>C (p.Leu504Pro)
|
rs587784477
|
|
NM_207346.3(TSEN54):c.1535T>C (p.Phe512Ser)
|
rs1598480419
|
|
NM_207346.3(TSEN54):c.1535del (p.Phe512fs)
|
rs2147019791
|
|
NM_207346.3(TSEN54):c.249G>A (p.Arg83=)
|
rs2147006296
|
|
NM_207346.3(TSEN54):c.621_623+9del
|
|
|
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter)
|
rs113994153
|
|
NM_207346.3(TSEN54):c.856_862dup (p.Val288fs)
|
|
|
TSEN54:c.[277T>C;919G>T]
|
|
|