NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
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_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)
|
rs755097302
|
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_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)
|
rs148670389
|
0.00004
|
NM_001128159.3(VPS53):c.1312_1313+2del
|
rs768997239
|
0.00003
|
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
|
rs755459875
|
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_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)
|
rs143604970
|
0.00003
|
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_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)
|
rs200444162
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs)
|
rs749987648
|
0.00002
|
NM_016955.4(SEPSECS):c.389-1G>A
|
rs754373273
|
0.00002
|
NM_018082.6(POLR3B):c.1263+2T>C
|
rs774526181
|
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_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)
|
rs775267348
|
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.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
NM_001173990.3(TMEM216):c.34+2T>C
|
rs1057517498
|
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_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)
|
rs776941281
|
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.776+1G>A
|
rs771226563
|
0.00001
|
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)
|
rs267607035
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
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.297+2T>G
|
rs574343583
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)
|
rs1374014119
|
0.00001
|
NM_153240.5(NPHP3):c.2171+1G>A
|
rs1280230808
|
0.00001
|
NM_153240.5(NPHP3):c.2311-2A>G
|
rs1332659264
|
0.00001
|
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
|
|
|
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_000548.5(TSC2):c.138+5G>A
|
rs45481400
|
|
NM_000548.5(TSC2):c.2545+5G>C
|
rs1131691965
|
|
NM_000548.5(TSC2):c.2640-2A>G
|
rs137854380
|
|
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)
|
rs397515087
|
|
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)
|
rs1060499676
|
|
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro)
|
rs2151631825
|
|
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)
|
rs1410236296
|
|
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.2671C>T (p.Arg891Ter)
|
rs1355690902
|
|
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs)
|
rs780910490
|
|
NM_001173990.3(TMEM216):c.230-2A>G
|
rs1211592806
|
|
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
|
rs1560166511
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
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.5337del (p.Ser1780fs)
|
rs777045246
|
|
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer)
|
rs962476553
|
|
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs)
|
rs747815682
|
|
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs)
|
rs1779035528
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
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.2692_2696del (p.Glu898fs)
|
rs1966218490
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>T
|
rs2151056579
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)
|
rs564992297
|
|
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs)
|
rs757594906
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)
|
rs553175533
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)
|
rs267607036
|
|
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter)
|
rs1309003036
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_020320.5(RARS2):c.1554del (p.Arg519fs)
|
rs754610170
|
|
NM_020320.5(RARS2):c.1A>G (p.Met1Val)
|
rs774923951
|
|
NM_020320.5(RARS2):c.2T>G (p.Met1Arg)
|
rs199862050
|
|
NM_020320.5(RARS2):c.772-1G>A
|
rs2128057942
|
|
NM_020320.5(RARS2):c.928dup (p.Ile310fs)
|
rs1360282089
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
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.4621del (p.Thr1541fs)
|
rs587779733
|
|
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.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.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)
|
rs560987504
|
|
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
|
|