NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_005559.4(LAMA1):c.8253G>A (p.Leu2751=)
|
rs139713073
|
0.00271
|
NM_005559.4(LAMA1):c.1792G>C (p.Glu598Gln)
|
rs116690149
|
0.00203
|
NM_033026.6(PCLO):c.1297G>A (p.Ala433Thr)
|
rs201344475
|
0.00180
|
NM_033026.6(PCLO):c.9373G>A (p.Asp3125Asn)
|
rs145077014
|
0.00140
|
NM_033026.6(PCLO):c.8069G>A (p.Gly2690Asp)
|
rs184748520
|
0.00133
|
NM_002768.5(CHMP1A):c.51G>A (p.Lys17=)
|
rs187184327
|
0.00114
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
NM_033026.6(PCLO):c.5267G>A (p.Arg1756His)
|
rs139451754
|
0.00096
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_033026.6(PCLO):c.13571C>T (p.Pro4524Leu)
|
rs181317757
|
0.00076
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_153816.6(SNX14):c.2410G>A (p.Val804Ile)
|
rs141213887
|
0.00066
|
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)
|
rs143389605
|
0.00055
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala)
|
rs145464176
|
0.00048
|
NM_020320.5(RARS2):c.773G>A (p.Arg258His)
|
rs145297855
|
0.00044
|
NM_005559.4(LAMA1):c.1619C>T (p.Pro540Leu)
|
rs140908403
|
0.00041
|
NM_005559.4(LAMA1):c.3687+4A>C
|
rs7226848
|
0.00039
|
NM_005559.4(LAMA1):c.7187G>A (p.Arg2396Gln)
|
rs200776408
|
0.00038
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_002768.5(CHMP1A):c.130T>A (p.Cys44Ser)
|
rs372234497
|
0.00029
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_005559.4(LAMA1):c.3745G>A (p.Val1249Ile)
|
rs148225763
|
0.00026
|
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
|
rs142348911
|
0.00026
|
NM_005559.4(LAMA1):c.7181G>A (p.Arg2394Gln)
|
rs140792199
|
0.00025
|
NM_005559.4(LAMA1):c.371T>C (p.Ile124Thr)
|
rs200657079
|
0.00024
|
NM_005559.4(LAMA1):c.4204C>T (p.Pro1402Ser)
|
rs202133880
|
0.00024
|
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)
|
rs201219078
|
0.00023
|
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)
|
rs200236654
|
0.00021
|
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
|
rs376578633
|
0.00020
|
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
0.00020
|
NM_005559.4(LAMA1):c.6779C>A (p.Ser2260Tyr)
|
rs146652610
|
0.00016
|
NM_020320.5(RARS2):c.472_474del (p.Lys158del)
|
rs757743894
|
0.00016
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_207346.3(TSEN54):c.1057C>T (p.Arg353Trp)
|
rs200540627
|
0.00013
|
NM_002768.5(CHMP1A):c.204C>T (p.Arg68=)
|
rs199628110
|
0.00012
|
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp)
|
rs200293618
|
0.00012
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
NM_005559.4(LAMA1):c.2524C>T (p.Pro842Ser)
|
rs149208354
|
0.00011
|
NM_006831.3(CLP1):c.178G>T (p.Gly60Cys)
|
rs200305079
|
0.00011
|
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)
|
rs201439617
|
0.00010
|
NM_025265.4(TSEN2):c.971C>T (p.Thr324Met)
|
rs772061041
|
0.00010
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
0.00009
|
NM_001128159.3(VPS53):c.2365C>G (p.Leu789Val)
|
rs1010638222
|
0.00009
|
NM_014875.3(KIF14):c.1147A>G (p.Met383Val)
|
rs371446188
|
0.00008
|
NM_014875.3(KIF14):c.1813G>T (p.Ala605Ser)
|
rs370591311
|
0.00008
|
NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn)
|
rs201831309
|
0.00007
|
NM_207346.3(TSEN54):c.1035G>C (p.Lys345Asn)
|
rs376308638
|
0.00007
|
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His)
|
rs771622959
|
0.00006
|
NM_016955.4(SEPSECS):c.388+3A>G
|
rs757504141
|
0.00006
|
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val)
|
rs202043298
|
0.00006
|
NM_018082.6(POLR3B):c.2407A>G (p.Ile803Val)
|
rs372387469
|
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_020320.5(RARS2):c.35A>G (p.Gln12Arg)
|
rs147391618
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_005559.4(LAMA1):c.8263A>G (p.Met2755Val)
|
rs373014487
|
0.00005
|
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)
|
rs765088174
|
0.00005
|
NM_033026.6(PCLO):c.3367C>T (p.Arg1123Cys)
|
rs562725219
|
0.00005
|
NM_153816.6(SNX14):c.140+9G>A
|
rs751616334
|
0.00005
|
NM_000548.5(TSC2):c.921C>G (p.His307Gln)
|
rs878854121
|
0.00004
|
NM_001135146.2(SLC39A8):c.923C>T (p.Thr308Met)
|
rs376000562
|
0.00004
|
NM_005559.4(LAMA1):c.1846G>A (p.Gly616Arg)
|
rs146460281
|
0.00004
|
NM_005559.4(LAMA1):c.6050C>T (p.Ser2017Phe)
|
rs778208901
|
0.00004
|
NM_018082.6(POLR3B):c.3098+8A>G
|
rs753390602
|
0.00004
|
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter)
|
rs199835443
|
0.00004
|
NM_033026.6(PCLO):c.1585C>A (p.Pro529Thr)
|
rs895119524
|
0.00004
|
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr)
|
rs1007335343
|
0.00003
|
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)
|
rs796053492
|
0.00003
|
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp)
|
rs1200837034
|
0.00003
|
NM_000548.5(TSC2):c.5260-1G>C
|
rs1057518103
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_004958.4(MTOR):c.841-6A>G
|
rs539605016
|
0.00003
|
NM_005559.4(LAMA1):c.4555G>C (p.Gly1519Arg)
|
rs747710308
|
0.00003
|
NM_014846.4(WASHC5):c.2257C>T (p.Arg753Cys)
|
rs780719370
|
0.00003
|
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter)
|
rs267608688
|
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_025114.4(CEP290):c.6752C>G (p.Ala2251Gly)
|
rs758864226
|
0.00003
|
NM_207346.3(TSEN54):c.637A>G (p.Lys213Glu)
|
rs184421010
|
0.00003
|
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg)
|
rs1489623582
|
0.00002
|
NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly)
|
rs764608837
|
0.00002
|
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)
|
rs137854123
|
0.00002
|
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)
|
rs547352656
|
0.00002
|
NM_001128178.3(NPHP1):c.729-2A>G
|
rs773781058
|
0.00002
|
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)
|
rs765263671
|
0.00002
|
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter)
|
rs766699868
|
0.00002
|
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)
|
rs147416429
|
0.00002
|
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp)
|
rs1065764
|
0.00002
|
NM_001497.4(B4GALT1):c.811G>A (p.Val271Ile)
|
rs750802296
|
0.00002
|
NM_003611.3(OFD1):c.3G>A (p.Met1Ile)
|
rs778840618
|
0.00002
|
NM_006831.3(CLP1):c.310C>G (p.Arg104Gly)
|
rs994445804
|
0.00002
|
NM_014008.5(CCDC22):c.1610C>T (p.Ala537Val)
|
rs782683625
|
0.00002
|
NM_020320.5(RARS2):c.160_161del (p.Asp53_Asn54insTer)
|
rs756101515
|
0.00002
|
NM_025077.4(TOE1):c.1159G>A (p.Asp387Asn)
|
rs140119746
|
0.00002
|
NM_033026.6(PCLO):c.4697A>G (p.Asp1566Gly)
|
rs748686744
|
0.00002
|
NM_153240.5(NPHP3):c.2112T>C (p.Cys704=)
|
rs761833505
|
0.00002
|
NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp)
|
rs556044910
|
0.00002
|
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu)
|
rs200881798
|
0.00002
|
NM_207346.3(TSEN54):c.808C>T (p.Pro270Ser)
|
rs758853965
|
0.00002
|
NM_000368.5(TSC1):c.106+4A>G
|
rs373075566
|
0.00001
|
NM_000368.5(TSC1):c.1263+5G>A
|
rs767745683
|
0.00001
|
NM_000368.5(TSC1):c.1800G>C (p.Gln600His)
|
rs1254353359
|
0.00001
|
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr)
|
rs1343881428
|
0.00001
|
NM_000368.5(TSC1):c.1818T>A (p.His606Gln)
|
rs758769193
|
0.00001
|
NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr)
|
rs1374339026
|
0.00001
|
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)
|
rs1263094349
|
0.00001
|
NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu)
|
rs1845082733
|
0.00001
|
NM_000368.5(TSC1):c.312G>T (p.Lys104Asn)
|
rs1554820281
|
0.00001
|
NM_000368.5(TSC1):c.3151C>T (p.Pro1051Ser)
|
rs1210523479
|
0.00001
|
NM_000368.5(TSC1):c.3274G>A (p.Ala1092Thr)
|
rs747053008
|
0.00001
|
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu)
|
rs751398082
|
0.00001
|
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr)
|
rs1470270925
|
0.00001
|
NM_000368.5(TSC1):c.371C>G (p.Thr124Ser)
|
rs747251435
|
0.00001
|
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys)
|
rs1060503209
|
0.00001
|
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn)
|
rs984306144
|
0.00001
|
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)
|
rs878853968
|
0.00001
|
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile)
|
rs370916731
|
0.00001
|
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)
|
rs796053483
|
0.00001
|
NM_000548.5(TSC2):c.1389C>G (p.Ile463Met)
|
rs1188230416
|
0.00001
|
NM_000548.5(TSC2):c.1946+9G>T
|
rs1470276886
|
0.00001
|
NM_000548.5(TSC2):c.2144A>C (p.Glu715Ala)
|
rs763351805
|
0.00001
|
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe)
|
rs758961134
|
0.00001
|
NM_000548.5(TSC2):c.2416G>A (p.Val806Met)
|
rs796053473
|
0.00001
|
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys)
|
rs774758044
|
0.00001
|
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys)
|
rs147523833
|
0.00001
|
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln)
|
rs1478204355
|
0.00001
|
NM_000548.5(TSC2):c.2956G>A (p.Val986Met)
|
rs765489754
|
0.00001
|
NM_000548.5(TSC2):c.2971A>G (p.Ile991Val)
|
rs369524855
|
0.00001
|
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val)
|
rs775639244
|
0.00001
|
NM_000548.5(TSC2):c.3695C>T (p.Ser1232Phe)
|
rs886039876
|
0.00001
|
NM_000548.5(TSC2):c.3940C>G (p.Pro1314Ala)
|
rs771499212
|
0.00001
|
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala)
|
rs878854104
|
0.00001
|
NM_000548.5(TSC2):c.4210A>G (p.Lys1404Glu)
|
rs1384101814
|
0.00001
|
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn)
|
rs1267811475
|
0.00001
|
NM_000548.5(TSC2):c.4570-1G>A
|
rs777985056
|
0.00001
|
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn)
|
rs796872464
|
0.00001
|
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp)
|
rs777592623
|
0.00001
|
NM_000548.5(TSC2):c.4886A>G (p.Asp1629Gly)
|
rs767444397
|
0.00001
|
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val)
|
rs140526185
|
0.00001
|
NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu)
|
rs45517414
|
0.00001
|
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)
|
rs45517118
|
0.00001
|
NM_001128159.3(VPS53):c.2329G>C (p.Gly777Arg)
|
rs1191869765
|
0.00001
|
NM_001128159.3(VPS53):c.2420T>C (p.Leu807Pro)
|
rs771439682
|
0.00001
|
NM_001128159.3(VPS53):c.959T>G (p.Phe320Cys)
|
rs1302881349
|
0.00001
|
NM_001128178.3(NPHP1):c.1270-1G>A
|
rs376492641
|
0.00001
|
NM_001128178.3(NPHP1):c.143+1G>C
|
rs745806504
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+1G>T
|
rs1233478832
|
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.643G>T (p.Glu215Ter)
|
rs753517219
|
0.00001
|
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg)
|
rs140836078
|
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_001199198.3(TBC1D23):c.1327G>A (p.Asp443Asn)
|
rs1336318830
|
0.00001
|
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)
|
rs587777395
|
0.00001
|
NM_001384732.1(CPLANE1):c.5876A>G (p.Glu1959Gly)
|
rs1230715850
|
0.00001
|
NM_002547.3(OPHN1):c.1201+3A>G
|
rs1482683297
|
0.00001
|
NM_002768.5(CHMP1A):c.*93G>A
|
rs542215121
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_004958.4(MTOR):c.1244A>G (p.Asp415Gly)
|
rs1288219609
|
0.00001
|
NM_005559.4(LAMA1):c.1862C>T (p.Thr621Ile)
|
rs1372291355
|
0.00001
|
NM_005559.4(LAMA1):c.2274+3G>T
|
rs1346412853
|
0.00001
|
NM_005559.4(LAMA1):c.2856C>G (p.Asn952Lys)
|
rs576734629
|
0.00001
|
NM_005559.4(LAMA1):c.3191A>C (p.Gln1064Pro)
|
rs535850595
|
0.00001
|
NM_005559.4(LAMA1):c.5584A>G (p.Arg1862Gly)
|
rs773614520
|
0.00001
|
NM_005559.4(LAMA1):c.5660+5G>T
|
rs767853385
|
0.00001
|
NM_005559.4(LAMA1):c.7124C>T (p.Thr2375Ile)
|
rs533138285
|
0.00001
|
NM_006831.3(CLP1):c.427C>T (p.Arg143Cys)
|
rs957840738
|
0.00001
|
NM_014008.5(CCDC22):c.383G>A (p.Arg128Gln)
|
rs782726788
|
0.00001
|
NM_014875.3(KIF14):c.4385G>A (p.Gly1462Glu)
|
rs759119778
|
0.00001
|
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln)
|
rs150934316
|
0.00001
|
NM_016955.4(SEPSECS):c.1148dup (p.His383fs)
|
rs761072755
|
0.00001
|
NM_016955.4(SEPSECS):c.256C>T (p.Arg86Cys)
|
rs373439857
|
0.00001
|
NM_018082.6(POLR3B):c.2570+1G>A
|
rs753943393
|
0.00001
|
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)
|
rs782672149
|
0.00001
|
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
|
rs201504407
|
0.00001
|
NM_020320.5(RARS2):c.1156C>T (p.Arg386Ter)
|
rs199728745
|
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.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_020320.5(RARS2):c.879-1G>C
|
rs1428801547
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
NM_033026.6(PCLO):c.10780A>G (p.Thr3594Ala)
|
rs1479830877
|
0.00001
|
NM_033026.6(PCLO):c.11671T>C (p.Ser3891Pro)
|
rs761884390
|
0.00001
|
NM_033026.6(PCLO):c.9494T>C (p.Leu3165Ser)
|
rs371068804
|
0.00001
|
NM_153240.5(NPHP3):c.236C>T (p.Ser79Leu)
|
rs1303757034
|
0.00001
|
NM_153816.6(SNX14):c.131T>C (p.Leu44Pro)
|
rs777542453
|
0.00001
|
NM_153816.6(SNX14):c.2674G>A (p.Gly892Ser)
|
rs758491411
|
0.00001
|
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile)
|
rs1845955010
|
|
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu)
|
rs1588324106
|
|
NM_000368.5(TSC1):c.1030-5C>G
|
rs1588323218
|
|
NM_000368.5(TSC1):c.107-1G>C
|
|
|
NM_000368.5(TSC1):c.1076C>T (p.Pro359Leu)
|
|
|
NM_000368.5(TSC1):c.1145G>A (p.Gly382Asp)
|
rs1460150475
|
|
NM_000368.5(TSC1):c.1186C>T (p.Pro396Ser)
|
rs1845904238
|
|
NM_000368.5(TSC1):c.1256C>A (p.Pro419His)
|
rs878853959
|
|
NM_000368.5(TSC1):c.1264-2A>G
|
|
|
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu)
|
rs587778721
|
|
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg)
|
rs762688935
|
|
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr)
|
rs1554816213
|
|
NM_000368.5(TSC1):c.1465A>T (p.Ile489Phe)
|
rs1564482602
|
|
NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr)
|
|
|
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp)
|
rs1243886871
|
|
NM_000368.5(TSC1):c.173T>C (p.Leu58Ser)
|
|
|
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu)
|
rs1588309097
|
|
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg)
|
rs751247705
|
|
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn)
|
rs1588309025
|
|
NM_000368.5(TSC1):c.1868A>G (p.Lys623Arg)
|
|
|
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr)
|
rs1588308288
|
|
NM_000368.5(TSC1):c.1966G>A (p.Gly656Arg)
|
|
|
NM_000368.5(TSC1):c.203A>T (p.His68Leu)
|
|
|
NM_000368.5(TSC1):c.2042-2A>G
|
rs118203628
|
|
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del)
|
rs397514799
|
|
NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg)
|
rs1845511359
|
|
NM_000368.5(TSC1):c.2077G>A (p.Asp693Asn)
|
|
|
NM_000368.5(TSC1):c.2093T>C (p.Leu698Pro)
|
|
|
NM_000368.5(TSC1):c.2102A>G (p.Gln701Arg)
|
|
|
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer)
|
rs118203645
|
|
NM_000368.5(TSC1):c.2117G>A (p.Arg706His)
|
rs1588304158
|
|
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln)
|
rs1060503207
|
|
NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu)
|
|
|
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr)
|
rs1845494587
|
|
NM_000368.5(TSC1):c.2185C>G (p.Leu729Val)
|
|
|
NM_000368.5(TSC1):c.2191G>A (p.Glu731Lys)
|
|
|
NM_000368.5(TSC1):c.2208+7A>T
|
|
|
NM_000368.5(TSC1):c.225G>C (p.Arg75Ser)
|
|
|
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp)
|
rs1264839312
|
|
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu)
|
rs118203675
|
|
NM_000368.5(TSC1):c.2470A>C (p.Thr824Pro)
|
|
|
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala)
|
rs1554814639
|
|
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro)
|
rs76667066
|
|
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile)
|
rs1845329722
|
|
NM_000368.5(TSC1):c.2635A>G (p.Met879Val)
|
rs778416424
|
|
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser)
|
rs751362258
|
|
NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)
|
|
|
NM_000368.5(TSC1):c.2975+1G>A
|
|
|
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr)
|
rs144314195
|
|
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly)
|
rs1554813029
|
|
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile)
|
rs751970451
|
|
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp)
|
rs1176815392
|
|
NM_000368.5(TSC1):c.3190_3192del (p.Glu1064del)
|
|
|
NM_000368.5(TSC1):c.3224C>G (p.Pro1075Arg)
|
|
|
NM_000368.5(TSC1):c.323C>T (p.Ser108Phe)
|
|
|
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser)
|
rs747053008
|
|
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)
|
rs550526986
|
|
NM_000368.5(TSC1):c.3292A>G (p.Asn1098Asp)
|
|
|
NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr)
|
rs1845031012
|
|
NM_000368.5(TSC1):c.3487C>T (p.His1163Tyr)
|
rs2131585152
|
|
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
|
|
|
NM_000368.5(TSC1):c.396C>T (p.Gly132=)
|
rs368922726
|
|
NM_000368.5(TSC1):c.475G>A (p.Gly159Ser)
|
rs1846672854
|
|
NM_000368.5(TSC1):c.496C>G (p.Leu166Val)
|
|
|
NM_000368.5(TSC1):c.507A>G (p.Pro169=)
|
rs1846669296
|
|
NM_000368.5(TSC1):c.526T>C (p.Tyr176His)
|
|
|
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr)
|
rs1279777367
|
|
NM_000368.5(TSC1):c.611G>A (p.Arg204His)
|
rs397514834
|
|
NM_000368.5(TSC1):c.664-43C>G
|
|
|
NM_000368.5(TSC1):c.796C>G (p.Pro266Ala)
|
|
|
NM_000368.5(TSC1):c.845C>T (p.Ser282Leu)
|
rs118203459
|
|
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)
|
|
|
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe)
|
rs1847031671
|
|
NM_000548.5(TSC2):c.-30+1G>C
|
rs587778004
|
|
NM_000548.5(TSC2):c.-30+1G>T
|
rs587778004
|
|
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys)
|
rs45517144
|
|
NM_000548.5(TSC2):c.1024A>C (p.Ile342Leu)
|
|
|
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val)
|
rs902767624
|
|
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro)
|
rs1060500919
|
|
NM_000548.5(TSC2):c.1180C>A (p.Leu394Met)
|
rs1409309186
|
|
NM_000548.5(TSC2):c.1180C>G (p.Leu394Val)
|
rs1409309186
|
|
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys)
|
rs773920155
|
|
NM_000548.5(TSC2):c.1202A>C (p.His401Pro)
|
rs2086691569
|
|
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly)
|
rs1057518321
|
|
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter)
|
rs397514897
|
|
NM_000548.5(TSC2):c.1257+172C>G
|
|
|
NM_000548.5(TSC2):c.1258-6T>A
|
|
|
NM_000548.5(TSC2):c.125C>G (p.Ala42Gly)
|
|
|
NM_000548.5(TSC2):c.1295A>G (p.Gln432Arg)
|
|
|
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu)
|
rs796053485
|
|
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu)
|
rs777457815
|
|
NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu)
|
rs769147552
|
|
NM_000548.5(TSC2):c.1362-10C>A
|
rs45446697
|
|
NM_000548.5(TSC2):c.1385G>A (p.Arg462His)
|
rs45494392
|
|
NM_000548.5(TSC2):c.142C>G (p.Leu48Val)
|
rs1486839704
|
|
NM_000548.5(TSC2):c.1443+5G>A
|
rs1057521562
|
|
NM_000548.5(TSC2):c.1481C>A (p.Ser494Tyr)
|
|
|
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe)
|
rs751984707
|
|
NM_000548.5(TSC2):c.153A>T (p.Glu51Asp)
|
rs746366461
|
|
NM_000548.5(TSC2):c.1559A>G (p.His520Arg)
|
rs1220672669
|
|
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr)
|
rs2151191974
|
|
NM_000548.5(TSC2):c.1601T>G (p.Val534Gly)
|
rs924098595
|
|
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu)
|
rs764191178
|
|
NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro)
|
rs763183991
|
|
NM_000548.5(TSC2):c.1717A>C (p.Thr573Pro)
|
|
|
NM_000548.5(TSC2):c.1735C>T (p.Pro579Ser)
|
rs45517196
|
|
NM_000548.5(TSC2):c.1786C>T (p.Leu596Phe)
|
|
|
NM_000548.5(TSC2):c.1828A>G (p.Ile610Val)
|
rs1285778253
|
|
NM_000548.5(TSC2):c.183A>G (p.Ile61Met)
|
rs2084961841
|
|
NM_000548.5(TSC2):c.1867G>A (p.Ala623Thr)
|
|
|
NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu)
|
rs1596342515
|
|
NM_000548.5(TSC2):c.190A>G (p.Ile64Val)
|
rs397515081
|
|
NM_000548.5(TSC2):c.1933G>T (p.Val645Phe)
|
rs746677177
|
|
NM_000548.5(TSC2):c.1955A>T (p.Glu652Val)
|
|
|
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu)
|
rs794727221
|
|
NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala)
|
rs1338802781
|
|
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu)
|
rs756536921
|
|
NM_000548.5(TSC2):c.203C>G (p.Ala68Gly)
|
|
|
NM_000548.5(TSC2):c.2114T>C (p.Val705Ala)
|
rs397515068
|
|
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met)
|
rs778040604
|
|
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro)
|
rs876659689
|
|
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe)
|
rs886051789
|
|
NM_000548.5(TSC2):c.2272T>C (p.Ser758Pro)
|
rs2151327279
|
|
NM_000548.5(TSC2):c.2288A>C (p.His763Pro)
|
|
|
NM_000548.5(TSC2):c.2288A>T (p.His763Leu)
|
|
|
NM_000548.5(TSC2):c.2512A>G (p.Ser838Gly)
|
|
|
NM_000548.5(TSC2):c.2546-6C>G
|
|
|
NM_000548.5(TSC2):c.2552C>T (p.Ala851Val)
|
rs1596364874
|
|
NM_000548.5(TSC2):c.2596G>T (p.Ala866Ser)
|
rs1555508378
|
|
NM_000548.5(TSC2):c.2607C>A (p.Phe869Leu)
|
rs750336814
|
|
NM_000548.5(TSC2):c.2608G>A (p.Ala870Thr)
|
rs1060500975
|
|
NM_000548.5(TSC2):c.2638A>G (p.Lys880Glu)
|
rs2151382293
|
|
NM_000548.5(TSC2):c.2656G>A (p.Val886Met)
|
rs999523698
|
|
NM_000548.5(TSC2):c.2734A>C (p.Ile912Leu)
|
|
|
NM_000548.5(TSC2):c.2787G>T (p.Glu929Asp)
|
rs968144525
|
|
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)
|
rs1222477746
|
|
NM_000548.5(TSC2):c.2836A>G (p.Ser946Gly)
|
rs2151396480
|
|
NM_000548.5(TSC2):c.2859del (p.Lys954fs)
|
|
|
NM_000548.5(TSC2):c.2859dup (p.Lys954fs)
|
rs796053504
|
|
NM_000548.5(TSC2):c.2896T>G (p.Phe966Val)
|
|
|
NM_000548.5(TSC2):c.2992G>C (p.Ala998Pro)
|
rs1440361406
|
|
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser)
|
rs1440361406
|
|
NM_000548.5(TSC2):c.3056A>C (p.His1019Pro)
|
rs1555510317
|
|
NM_000548.5(TSC2):c.3167G>A (p.Arg1056Lys)
|
|
|
NM_000548.5(TSC2):c.3227G>C (p.Gly1076Ala)
|
|
|
NM_000548.5(TSC2):c.3236C>T (p.Ser1079Leu)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3259G>A (p.Glu1087Lys)
|
rs1085307762
|
|
NM_000548.5(TSC2):c.3263T>C (p.Leu1088Pro)
|
|
|
NM_000548.5(TSC2):c.3284+1dup
|
|
|
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met)
|
rs775584262
|
|
NM_000548.5(TSC2):c.3393G>T (p.Met1131Ile)
|
rs1297504532
|
|
NM_000548.5(TSC2):c.3502_3503delinsGC (p.Lys1168Ala)
|
|
|
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser)
|
rs137854421
|
|
NM_000548.5(TSC2):c.3575A>G (p.Gln1192Arg)
|
rs755559677
|
|
NM_000548.5(TSC2):c.3644C>T (p.Pro1215Leu)
|
rs933257311
|
|
NM_000548.5(TSC2):c.3740C>G (p.Thr1247Arg)
|
rs2151483328
|
|
NM_000548.5(TSC2):c.3817_3820dup (p.Ser1274fs)
|
rs1555512845
|
|
NM_000548.5(TSC2):c.3824del (p.Phe1275fs)
|
rs1185513978
|
|
NM_000548.5(TSC2):c.3867G>T (p.Arg1289Ser)
|
rs1008733639
|
|
NM_000548.5(TSC2):c.391C>G (p.Pro131Ala)
|
rs777398393
|
|
NM_000548.5(TSC2):c.3944C>T (p.Pro1315Leu)
|
rs775990159
|
|
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val)
|
rs587778736
|
|
NM_000548.5(TSC2):c.3995C>T (p.Ala1332Val)
|
|
|
NM_000548.5(TSC2):c.3998A>G (p.Tyr1333Cys)
|
rs878854099
|
|
NM_000548.5(TSC2):c.4005+4_4005+7dup
|
rs796053519
|
|
NM_000548.5(TSC2):c.4005G>C (p.Arg1335Ser)
|
rs2090436302
|
|
NM_000548.5(TSC2):c.4007C>G (p.Ser1336Trp)
|
rs148527903
|
|
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr)
|
rs878854103
|
|
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter)
|
rs45517329
|
|
NM_000548.5(TSC2):c.4146del (p.Ser1383fs)
|
|
|
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp)
|
rs778925833
|
|
NM_000548.5(TSC2):c.4325A>T (p.Glu1442Val)
|
rs1204349917
|
|
NM_000548.5(TSC2):c.4351del (p.Arg1451fs)
|
rs397514939
|
|
NM_000548.5(TSC2):c.4366C>G (p.Leu1456Val)
|
|
|
NM_000548.5(TSC2):c.4393G>A (p.Asp1465Asn)
|
rs1425542648
|
|
NM_000548.5(TSC2):c.439A>G (p.Thr147Ala)
|
rs1596265301
|
|
NM_000548.5(TSC2):c.4400C>T (p.Ala1467Val)
|
rs2090531407
|
|
NM_000548.5(TSC2):c.4421G>A (p.Arg1474Lys)
|
rs2090535225
|
|
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile)
|
rs1202676769
|
|
NM_000548.5(TSC2):c.4435G>C (p.Ala1479Pro)
|
|
|
NM_000548.5(TSC2):c.4450G>A (p.Ala1484Thr)
|
|
|
NM_000548.5(TSC2):c.4504C>A (p.Leu1502Met)
|
rs928525608
|
|
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)
|
rs45516293
|
|
NM_000548.5(TSC2):c.4520C>G (p.Ser1507Cys)
|
rs746246149
|
|
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp)
|
rs199848388
|
|
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser)
|
rs1060500930
|
|
NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val)
|
rs878854109
|
|
NM_000548.5(TSC2):c.4744A>G (p.Ile1582Val)
|
|
|
NM_000548.5(TSC2):c.4758C>A (p.Asp1586Glu)
|
rs1366814192
|
|
NM_000548.5(TSC2):c.476A>T (p.Glu159Val)
|
rs1555497716
|
|
NM_000548.5(TSC2):c.4772A>G (p.Lys1591Arg)
|
rs1596439144
|
|
NM_000548.5(TSC2):c.4849G>A (p.Ala1617Thr)
|
rs2090791005
|
|
NM_000548.5(TSC2):c.4850-5C>G
|
|
|
NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val)
|
rs1555516628
|
|
NM_000548.5(TSC2):c.4942A>C (p.Ile1648Leu)
|
rs749554579
|
|
NM_000548.5(TSC2):c.4979G>T (p.Gly1660Val)
|
rs1189857262
|
|
NM_000548.5(TSC2):c.4989G>A (p.Lys1663=)
|
rs1567124948
|
|
NM_000548.5(TSC2):c.4999A>G (p.Asn1667Asp)
|
rs1182240785
|
|
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)
|
rs755728007
|
|
NM_000548.5(TSC2):c.5090C>G (p.Thr1697Ser)
|
rs777223264
|
|
NM_000548.5(TSC2):c.5093G>C (p.Ser1698Thr)
|
rs1267700080
|
|
NM_000548.5(TSC2):c.5102_5104del (p.Lys1701del)
|
|
|
NM_000548.5(TSC2):c.5119A>C (p.Asn1707His)
|
rs1300582033
|
|
NM_000548.5(TSC2):c.5174T>C (p.Val1725Ala)
|
|
|
NM_000548.5(TSC2):c.5195C>T (p.Pro1732Leu)
|
|
|
NM_000548.5(TSC2):c.5197A>C (p.Thr1733Pro)
|
rs1596460327
|
|
NM_000548.5(TSC2):c.5197A>G (p.Thr1733Ala)
|
rs1596460327
|
|
NM_000548.5(TSC2):c.5201A>T (p.Asp1734Val)
|
rs878854117
|
|
NM_000548.5(TSC2):c.5260-18A>G
|
|
|
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys)
|
rs1060500957
|
|
NM_000548.5(TSC2):c.5302G>C (p.Val1768Leu)
|
|
|
NM_000548.5(TSC2):c.5309C>G (p.Pro1770Arg)
|
rs771357054
|
|
NM_000548.5(TSC2):c.5333C>T (p.Ala1778Val)
|
rs755900742
|
|
NM_000548.5(TSC2):c.5391C>G (p.Ile1797Met)
|
|
|
NM_000548.5(TSC2):c.577G>C (p.Glu193Gln)
|
|
|
NM_000548.5(TSC2):c.599+3A>G
|
rs397514899
|
|
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe)
|
rs878854120
|
|
NM_000548.5(TSC2):c.724A>G (p.Thr242Ala)
|
|
|
NM_000548.5(TSC2):c.746T>C (p.Val249Ala)
|
rs1596278719
|
|
NM_000548.5(TSC2):c.748A>G (p.Lys250Glu)
|
rs2085894886
|
|
NM_000548.5(TSC2):c.847A>G (p.Arg283Gly)
|
rs1596280931
|
|
NM_000548.5(TSC2):c.916G>T (p.Ala306Ser)
|
|
|
NM_001029896.2(WDR45):c.131-11_145del
|
rs1569523544
|
|
NM_001029896.2(WDR45):c.158TGG[1] (p.Val54del)
|
rs864309661
|
|
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)
|
rs797046101
|
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
NM_001077418.3(TMEM231):c.140-33C>G
|
rs901311435
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro)
|
rs1348700844
|
|
NM_001082486.1(ACD):c.58G>A (p.Ala20Thr)
|
rs372927331
|
|
NM_001128159.3(VPS53):c.2006A>G (p.Lys669Arg)
|
rs1910135011
|
|
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.1551del (p.Ile517fs)
|
rs1017750255
|
|
NM_001128178.3(NPHP1):c.1643-1G>C
|
|
|
NM_001128178.3(NPHP1):c.1643-2A>G
|
|
|
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr)
|
rs372893275
|
|
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.1933G>A (p.Ala645Thr)
|
rs201077898
|
|
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)
|
rs1410236296
|
|
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.625-2A>G
|
|
|
NM_001128178.3(NPHP1):c.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.882C>A (p.Tyr294Ter)
|
|
|
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
|
|
|
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
|
|
|
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr)
|
rs1787553528
|
|
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)
|
rs863225146
|
|
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
|
|
|
NM_001135146.2(SLC39A8):c.1020C>G (p.Ile340Met)
|
rs1732174032
|
|
NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter)
|
rs1732173818
|
|
NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter)
|
rs1734625225
|
|
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
|
|
|
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
|
|
|
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
|
|
|
NM_001173990.3(TMEM216):c.229+1G>A
|
rs2135191306
|
|
NM_001173990.3(TMEM216):c.229+1G>C
|
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
|
|
|
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.170C>T (p.Ala57Val)
|
rs1007913441
|
|
NM_001199198.3(TBC1D23):c.1883G>T (p.Gly628Val)
|
rs777421069
|
|
NM_001199198.3(TBC1D23):c.538C>T (p.Pro180Ser)
|
rs2067781962
|
|
NM_001366285.2(TBXT):c.466G>T (p.Gly156Cys)
|
rs1779123176
|
|
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
|
|
|
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu)
|
rs2072812741
|
|
NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)
|
|
|
NM_001367721.1(CASK):c.709-3C>T
|
rs2067016459
|
|
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)
|
rs794727270
|
|
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs)
|
rs1602386709
|
|
NM_001519.4(BRF1):c.1592AGA[2] (p.Lys533del)
|
rs868673013
|
|
NM_001519.4(BRF1):c.1714C>G (p.Arg572Gly)
|
rs770411283
|
|
NM_001519.4(BRF1):c.779T>C (p.Leu260Pro)
|
rs1595325674
|
|
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)
|
rs587777620
|
|
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)
|
rs587777620
|
|
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter)
|
rs1569215382
|
|
NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)
|
|
|
NM_002547.3(OPHN1):c.1889C>A (p.Pro630His)
|
rs866834118
|
|
NM_002547.3(OPHN1):c.598-1G>C
|
|
|
NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)
|
|
|
NM_002768.5(CHMP1A):c.106-3C>T
|
rs765715151
|
|
NM_002768.5(CHMP1A):c.277A>G (p.Thr93Ala)
|
rs953400825
|
|
NM_002768.5(CHMP1A):c.28-2A>G
|
|
|
NM_003611.3(OFD1):c.400_403del (p.Glu134fs)
|
rs312262830
|
|
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del)
|
rs1602826132
|
|
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)
|
rs1555904005
|
|
NM_004958.4(MTOR):c.1438G>T (p.Ala480Ser)
|
rs201601333
|
|
NM_004958.4(MTOR):c.2579A>T (p.Lys860Met)
|
rs1441440583
|
|
NM_004958.4(MTOR):c.4555G>A (p.Ala1519Thr)
|
rs1644090362
|
|
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)
|
rs863225264
|
|
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)
|
rs587777894
|
|
NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile)
|
rs1553171141
|
|
NM_004958.4(MTOR):c.7336_7341del (p.Thr2446_Asp2447del)
|
rs1641966003
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005027.4(PIK3R2):c.29G>A (p.Arg10His)
|
rs1371555508
|
|
NM_005559.4(LAMA1):c.1211C>A (p.Ser404Tyr)
|
|
|
NM_005559.4(LAMA1):c.3364-4G>T
|
rs2057863581
|
|
NM_005559.4(LAMA1):c.5700dup (p.Ser1901fs)
|
|
|
NM_005559.4(LAMA1):c.5726T>C (p.Ile1909Thr)
|
rs199766289
|
|
NM_005559.4(LAMA1):c.6029A>G (p.Lys2010Arg)
|
rs2057692609
|
|
NM_005559.4(LAMA1):c.6557C>A (p.Ser2186Tyr)
|
rs1261229691
|
|
NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)
|
|
|
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)
|
rs1057519925
|
|
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)
|
rs587776932
|
|
NM_006831.3(CLP1):c.159_161del (p.Lys54del)
|
rs758902215
|
|
NM_006831.3(CLP1):c.422T>A (p.Leu141Ter)
|
rs1945858355
|
|
NM_014008.5(CCDC22):c.110C>T (p.Ala37Val)
|
rs782333361
|
|
NM_014008.5(CCDC22):c.1343G>T (p.Arg448Leu)
|
rs782344227
|
|
NM_014008.5(CCDC22):c.190C>G (p.Arg64Gly)
|
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg)
|
rs1815967070
|
|
NM_015631.6(TCTN3):c.730C>G (p.Pro244Ala)
|
rs1389518788
|
|
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met)
|
rs199748546
|
|
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu)
|
rs2039707751
|
|
NM_016111.4(TELO2):c.2002C>T (p.Arg668Trp)
|
|
|
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr)
|
rs2040070431
|
|
NM_018082.6(POLR3B):c.1670A>G (p.Asn557Ser)
|
rs2037539502
|
|
NM_018082.6(POLR3B):c.745C>G (p.Gln249Glu)
|
rs2036932047
|
|
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
|
|
|
NM_018718.3(CEP41):c.34-2A>G
|
rs1797714974
|
|
NM_020134.4(DPYSL5):c.-122G>T
|
|
|
NM_020134.4(DPYSL5):c.323C>T (p.Ser108Phe)
|
|
|
NM_020320.5(RARS2):c.-2A>G
|
rs201150141
|
|
NM_020320.5(RARS2):c.1035+2T>G
|
|
|
NM_020320.5(RARS2):c.1055dup (p.His353fs)
|
|
|
NM_020320.5(RARS2):c.110+5A>G
|
rs63749985
|
|
NM_020320.5(RARS2):c.111-2A>G
|
|
|
NM_020320.5(RARS2):c.1113-2A>G
|
|
|
NM_020320.5(RARS2):c.1168G>A (p.Val390Ile)
|
rs1773191232
|
|
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.1297ATT[1] (p.Ile434del)
|
rs1772724414
|
|
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.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.1512-1G>A
|
|
|
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.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.214C>G (p.Leu72Val)
|
rs1562212838
|
|
NM_020320.5(RARS2):c.233_234del (p.Val78fs)
|
rs1582712331
|
|
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.333del (p.Lys111fs)
|
|
|
NM_020320.5(RARS2):c.340T>C (p.Leu114=)
|
rs1785581058
|
|
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.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.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.488A>G (p.His163Arg)
|
rs1260340118
|
|
NM_020320.5(RARS2):c.535+2T>G
|
|
|
NM_020320.5(RARS2):c.536-1G>A
|
|
|
NM_020320.5(RARS2):c.536-5G>A
|
rs1781141008
|
|
NM_020320.5(RARS2):c.53_60del (p.Asn18fs)
|
|
|
NM_020320.5(RARS2):c.598C>T (p.Gln200Ter)
|
|
|
NM_020320.5(RARS2):c.613-3927C>T
|
rs1410239766
|
|
NM_020320.5(RARS2):c.617del (p.Tyr206fs)
|
|
|
NM_020320.5(RARS2):c.622C>T (p.Gln208Ter)
|
rs1777321509
|
|
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.795del (p.Glu265fs)
|
|
|
NM_020320.5(RARS2):c.798T>A (p.Tyr266Ter)
|
|
|
NM_020320.5(RARS2):c.826_842dup (p.Lys281delinsAsnLeuLysArgSerTer)
|
|
|
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_025077.4(TOE1):c.1439G>A (p.Gly480Asp)
|
rs1442140372
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs)
|
rs2054534882
|
|
NM_033026.6(PCLO):c.10918T>C (p.Phe3640Leu)
|
rs1795285617
|
|
NM_033026.6(PCLO):c.11578C>T (p.Pro3860Ser)
|
rs1794464164
|
|
NM_033026.6(PCLO):c.2576A>G (p.Gln859Arg)
|
rs1791681904
|
|
NM_033026.6(PCLO):c.4892A>T (p.Asp1631Val)
|
rs1795508585
|
|
NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser)
|
rs201432429
|
|
NM_033026.6(PCLO):c.6533C>A (p.Pro2178His)
|
rs764859401
|
|
NM_033026.6(PCLO):c.7375G>T (p.Val2459Phe)
|
rs1795419455
|
|
NM_033026.6(PCLO):c.863T>G (p.Ile288Arg)
|
rs1237855795
|
|
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter)
|
rs1576660495
|
|
NM_153816.6(SNX14):c.119C>T (p.Ala40Val)
|
rs1803676386
|
|
NM_153816.6(SNX14):c.1809A>G (p.Ala603=)
|
rs1582696313
|
|
NM_153816.6(SNX14):c.572C>A (p.Thr191Asn)
|
rs773557814
|
|
NM_153816.6(SNX14):c.913C>A (p.Pro305Thr)
|
rs765192341
|
|
NM_207346.3(TSEN54):c.1280T>C (p.Leu427Pro)
|
rs2053450384
|
|
NM_207346.3(TSEN54):c.1381T>C (p.Phe461Leu)
|
rs767683456
|
|
NM_207346.3(TSEN54):c.167G>A (p.Arg56His)
|
rs1281448557
|
|
NM_207346.3(TSEN54):c.462G>C (p.Gln154His)
|
rs2053387849
|
|
NM_207346.3(TSEN54):c.940del (p.Leu314fs)
|
rs1012275384
|
|