NM_001142633.3(PIK3R5):c.2557C>T (p.Pro853Ser)
|
rs62620227
|
0.00280
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
NM_015378.4(VPS13D):c.1414+5G>A
|
rs190463258
|
0.00110
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)
|
rs111619594
|
0.00089
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys)
|
rs112513009
|
0.00080
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00080
|
NM_020680.4(SCYL1):c.804G>A (p.Met268Ile)
|
rs141670485
|
0.00076
|
NM_001142633.3(PIK3R5):c.470G>A (p.Arg157His)
|
rs144891748
|
0.00071
|
NM_153816.6(SNX14):c.2410G>A (p.Val804Ile)
|
rs141213887
|
0.00066
|
NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr)
|
rs369748157
|
0.00061
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
NM_014687.4(RUBCN):c.2075A>T (p.Glu692Val)
|
rs201343662
|
0.00060
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00057
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp)
|
rs200605669
|
0.00050
|
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe)
|
rs138413501
|
0.00036
|
NM_020247.5(COQ8A):c.1677C>G (p.His559Gln)
|
rs200963031
|
0.00036
|
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly)
|
rs199996939
|
0.00034
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_152617.4(RNF168):c.596T>C (p.Leu199Ser)
|
rs147030576
|
0.00028
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)
|
rs144147839
|
0.00025
|
NM_001278064.2(GRM1):c.1073G>A (p.Arg358Lys)
|
rs112817798
|
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_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
|
rs376578633
|
0.00020
|
NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly)
|
rs780969097
|
0.00020
|
NM_015215.4(CAMTA1):c.1559G>A (p.Arg520Gln)
|
rs138288107
|
0.00016
|
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)
|
rs370004832
|
0.00015
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)
|
rs201949664
|
0.00013
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)
|
rs368089670
|
0.00011
|
NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln)
|
rs758146224
|
0.00011
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)
|
rs201439617
|
0.00010
|
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys)
|
rs761117623
|
0.00010
|
NM_023077.3(COA7):c.113A>G (p.Tyr38Cys)
|
rs753445023
|
0.00010
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
0.00009
|
NM_001378615.1(CC2D2A):c.4314+12C>T
|
rs775304664
|
0.00009
|
NM_015378.4(VPS13D):c.9737A>G (p.Gln3246Arg)
|
rs146589155
|
0.00009
|
NM_018075.5(ANO10):c.799A>G (p.Asn267Asp)
|
rs143322256
|
0.00009
|
NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro)
|
rs527612343
|
0.00009
|
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)
|
rs369223258
|
0.00009
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln)
|
rs375243763
|
0.00008
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu)
|
rs747028553
|
0.00008
|
NM_001278064.2(GRM1):c.1165A>C (p.Asn389His)
|
rs769064791
|
0.00007
|
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)
|
rs200546493
|
0.00007
|
NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly)
|
rs548699524
|
0.00006
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly)
|
rs374765060
|
0.00006
|
NM_006297.3(XRCC1):c.1738C>T (p.Arg580Trp)
|
rs140655170
|
0.00006
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
NM_015160.3(PMPCA):c.258G>C (p.Gln86His)
|
rs141305380
|
0.00006
|
NM_015378.4(VPS13D):c.10558G>T (p.Asp3520Tyr)
|
rs148356821
|
0.00006
|
NM_020247.5(COQ8A):c.263G>T (p.Gly88Val)
|
rs141687205
|
0.00006
|
NM_020247.5(COQ8A):c.664G>A (p.Val222Met)
|
rs372435075
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)
|
rs151166046
|
0.00006
|
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)
|
rs202036490
|
0.00006
|
NM_182961.4(SYNE1):c.334A>T (p.Thr112Ser)
|
rs750010888
|
0.00006
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met)
|
rs200284291
|
0.00005
|
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met)
|
rs755920468
|
0.00005
|
NM_015378.4(VPS13D):c.293A>G (p.Asn98Ser)
|
rs776251343
|
0.00005
|
NM_015378.4(VPS13D):c.614T>C (p.Ile205Thr)
|
rs146889077
|
0.00005
|
NM_033064.5(ATCAY):c.370G>A (p.Val124Met)
|
rs147684273
|
0.00005
|
NM_153816.6(SNX14):c.140+9G>A
|
rs751616334
|
0.00005
|
NM_000144.5(FXN):c.146C>A (p.Thr49Asn)
|
rs995690945
|
0.00004
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)
|
rs188850202
|
0.00004
|
NM_000784.4(CYP27A1):c.845-1G>A
|
rs397515353
|
0.00004
|
NM_001080414.4(CCDC88C):c.786G>T (p.Arg262Ser)
|
rs368545314
|
0.00004
|
NM_001142633.3(PIK3R5):c.1207C>T (p.Pro403Ser)
|
rs775905402
|
0.00004
|
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter)
|
rs770296270
|
0.00004
|
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu)
|
rs768603321
|
0.00004
|
NM_014363.6(SACS):c.11576G>A (p.Arg3859His)
|
rs149427669
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_014363.6(SACS):c.2597A>G (p.Lys866Arg)
|
rs761960824
|
0.00004
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
0.00004
|
NM_015215.4(CAMTA1):c.4977G>T (p.Arg1659Ser)
|
rs373331254
|
0.00004
|
NM_015378.4(VPS13D):c.9157A>G (p.Ile3053Val)
|
rs966474941
|
0.00004
|
NM_020247.5(COQ8A):c.785G>A (p.Arg262Gln)
|
rs145422777
|
0.00004
|
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe)
|
rs775046032
|
0.00004
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)
|
rs575064188
|
0.00003
|
NM_003383.5(VLDLR):c.692G>A (p.Arg231His)
|
rs767529669
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_015215.4(CAMTA1):c.3892C>T (p.Arg1298Trp)
|
rs145964068
|
0.00003
|
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile)
|
rs151174849
|
0.00003
|
NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln)
|
rs769010867
|
0.00003
|
NM_018319.4(TDP1):c.910C>T (p.Arg304Ter)
|
rs370121773
|
0.00003
|
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg)
|
rs759470563
|
0.00003
|
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His)
|
rs767899984
|
0.00003
|
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly)
|
rs758864226
|
0.00003
|
NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His)
|
rs748256440
|
0.00003
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)
|
rs72551319
|
0.00002
|
NM_001127222.2(CACNA1A):c.7067C>T (p.Thr2356Met)
|
rs780098532
|
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_001130823.3(DNMT1):c.3353A>G (p.His1118Arg)
|
rs150331990
|
0.00002
|
NM_001146262.4(SYT14):c.392C>G (p.Pro131Arg)
|
rs1192775388
|
0.00002
|
NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu)
|
rs746252411
|
0.00002
|
NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys)
|
rs886540540
|
0.00002
|
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His)
|
rs749048534
|
0.00002
|
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp)
|
rs759630451
|
0.00002
|
NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr)
|
rs778029251
|
0.00002
|
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys)
|
rs1028247558
|
0.00002
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
NM_018319.4(TDP1):c.1478A>G (p.His493Arg)
|
rs119467003
|
0.00002
|
NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln)
|
rs1295882768
|
0.00002
|
NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp)
|
rs556044910
|
0.00002
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
NM_000370.3(TTPA):c.205-1G>C
|
rs886040963
|
0.00001
|
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)
|
rs397515524
|
0.00001
|
NM_000784.4(CYP27A1):c.1185-1G>A
|
rs587778779
|
0.00001
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+5G>T
|
rs587778784
|
0.00001
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)
|
rs1398584213
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)
|
rs72551314
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)
|
rs72551315
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_001080414.4(CCDC88C):c.3020G>A (p.Cys1007Tyr)
|
rs917595672
|
0.00001
|
NM_001080414.4(CCDC88C):c.932A>G (p.Tyr311Cys)
|
rs751049970
|
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_001130823.3(DNMT1):c.4492G>A (p.Gly1498Ser)
|
rs768764350
|
0.00001
|
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg)
|
rs140836078
|
0.00001
|
NM_001142633.3(PIK3R5):c.2425G>A (p.Gly809Ser)
|
rs746906096
|
0.00001
|
NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu)
|
rs992608564
|
0.00001
|
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)
|
rs762607878
|
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_001329943.3(KIAA0586):c.4324-1G>A
|
rs753649082
|
0.00001
|
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln)
|
rs1574832115
|
0.00001
|
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile)
|
rs747698039
|
0.00001
|
NM_001378615.1(CC2D2A):c.3015-9A>C
|
rs1010285962
|
0.00001
|
NM_001386140.1(MTTP):c.393+5A>G
|
rs771577895
|
0.00001
|
NM_003194.5(TBP):c.410C>T (p.Pro137Leu)
|
rs142540266
|
0.00001
|
NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala)
|
rs753848585
|
0.00001
|
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)
|
rs753491527
|
0.00001
|
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met)
|
rs750623875
|
0.00001
|
NM_006946.4(SPTBN2):c.773-5T>C
|
rs1941832250
|
0.00001
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)
|
rs863224916
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
NM_014363.6(SACS):c.1869del (p.Arg624fs)
|
rs1006060877
|
0.00001
|
NM_014363.6(SACS):c.3066del (p.Asn1025fs)
|
rs1057516767
|
0.00001
|
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter)
|
rs1027429746
|
0.00001
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)
|
rs755824618
|
0.00001
|
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
|
rs946368716
|
0.00001
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)
|
rs773182375
|
0.00001
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)
|
rs1213203489
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
NM_015160.3(PMPCA):c.485C>T (p.Thr162Met)
|
rs192764146
|
0.00001
|
NM_015215.4(CAMTA1):c.940G>A (p.Glu314Lys)
|
rs758739555
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3220+17A>C
|
rs1204073957
|
0.00001
|
NM_016373.4(WWOX):c.605+5G>A
|
rs1039151413
|
0.00001
|
NM_016529.6(ATP8A2):c.77-2A>G
|
rs373909734
|
0.00001
|
NM_016614.3(TDP2):c.97G>T (p.Ala33Ser)
|
rs760554150
|
0.00001
|
NM_018075.5(ANO10):c.1628G>A (p.Arg543His)
|
rs372086237
|
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_021830.5(TWNK):c.1296G>T (p.Leu432Phe)
|
rs1382315425
|
0.00001
|
NM_022464.5(SIL1):c.741G>A (p.Ala247=)
|
rs773520401
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter)
|
rs1896432430
|
0.00001
|
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro)
|
rs767886819
|
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_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp)
|
rs1159750019
|
0.00001
|
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala)
|
rs777755452
|
0.00001
|
NM_182961.4(SYNE1):c.8984T>C (p.Ile2995Thr)
|
rs527822279
|
0.00001
|
NC_012920.1:m.8993T>G
|
rs199476133
|
|
NM_000370.3(TTPA):c.13C>T (p.Arg5Ter)
|
rs1008240677
|
|
NM_000370.3(TTPA):c.173C>A (p.Ala58Asp)
|
rs1805742556
|
|
NM_000370.3(TTPA):c.182del (p.Phe61fs)
|
rs1805742175
|
|
NM_000370.3(TTPA):c.19C>T (p.Gln7Ter)
|
rs1351036862
|
|
NM_000370.3(TTPA):c.19del (p.Gln7fs)
|
rs760014795
|
|
NM_000370.3(TTPA):c.204+1G>T
|
|
|
NM_000370.3(TTPA):c.214_215delinsC (p.Asn72fs)
|
|
|
NM_000370.3(TTPA):c.218_219dup (p.Tyr74fs)
|
rs766675875
|
|
NM_000370.3(TTPA):c.223A>T (p.Lys75Ter)
|
|
|
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)
|
rs1554524061
|
|
NM_000370.3(TTPA):c.302_309del (p.His101fs)
|
|
|
NM_000370.3(TTPA):c.303T>G (p.His101Gln)
|
rs121917849
|
|
NM_000370.3(TTPA):c.358+2T>C
|
|
|
NM_000370.3(TTPA):c.358+2T>G
|
|
|
NM_000370.3(TTPA):c.381dup (p.Thr128fs)
|
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000370.3(TTPA):c.489del (p.Trp163fs)
|
|
|
NM_000370.3(TTPA):c.588del (p.Leu196_Ile197insTer)
|
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
NM_000370.3(TTPA):c.74del (p.Gln25fs)
|
|
|
NM_000370.3(TTPA):c.80del (p.Gly27fs)
|
|
|
NM_000370.3(TTPA):c.84_91dup (p.Leu31fs)
|
rs1805745954
|
|
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)
|
rs1575206357
|
|
NM_000784.4(CYP27A1):c.1017+1del
|
rs1559392904
|
|
NM_000784.4(CYP27A1):c.1018-1G>C
|
rs1575206658
|
|
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)
|
rs1575206688
|
|
NM_000784.4(CYP27A1):c.1146_1151delinsAAGCT (p.His382fs)
|
|
|
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
|
|
|
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)
|
rs1178393503
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1333del (p.Gln445fs)
|
|
|
NM_000784.4(CYP27A1):c.1374dup (p.Arg459fs)
|
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter)
|
|
|
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
|
|
|
NM_000784.4(CYP27A1):c.1472dup (p.Arg492fs)
|
|
|
NM_000784.4(CYP27A1):c.1476+2T>C
|
rs1165952837
|
|
NM_000784.4(CYP27A1):c.1477-1G>A
|
|
|
NM_000784.4(CYP27A1):c.1477-2A>C
|
rs111570247
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)
|
rs374507635
|
|
NM_000784.4(CYP27A1):c.20del (p.Ala7fs)
|
|
|
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs)
|
rs1163340926
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
|
NM_000784.4(CYP27A1):c.303del (p.Pro102fs)
|
|
|
NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)
|
|
|
NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
|
|
|
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
|
|
|
NM_000784.4(CYP27A1):c.473dup (p.Gln159fs)
|
|
|
NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter)
|
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
|
|
|
NM_000784.4(CYP27A1):c.571C>T (p.Gln191Ter)
|
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.608_614del (p.Ser203fs)
|
|
|
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr)
|
rs1943727741
|
|
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)
|
rs755532803
|
|
NM_000784.4(CYP27A1):c.67dup (p.His23fs)
|
rs1559384522
|
|
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs)
|
rs1559392634
|
|
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)
|
rs587778810
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)
|
rs587778812
|
|
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
|
|
|
NM_000784.4(CYP27A1):c.844+1G>T
|
|
|
NM_000784.4(CYP27A1):c.845-1G>C
|
|
|
NM_000784.4(CYP27A1):c.845-46_881del
|
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_000784.4(CYP27A1):c.953del (p.Gly318fs)
|
|
|
NM_000784.4(CYP27A1):c.985_994del (p.Leu329fs)
|
|
|
NM_001001344.3(ATP2B3):c.1976C>T (p.Pro659Leu)
|
rs2090483867
|
|
NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg)
|
rs782081961
|
|
NM_001001344.3(ATP2B3):c.3313T>A (p.Phe1105Ile)
|
rs1569535623
|
|
NM_001001344.3(ATP2B3):c.3316C>T (p.Arg1106Trp)
|
rs1227019809
|
|
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn)
|
rs782596945
|
|
NM_001001344.3(ATP2B3):c.4G>A (p.Gly2Ser)
|
|
|
NM_001005920.4(JMJD8):c.*903G>C
|
rs1567281056
|
|
NM_001020658.2(PUM1):c.1444G>A (p.Ala482Thr)
|
rs1017436032
|
|
NM_001020658.2(PUM1):c.3028C>T (p.Arg1010Ter)
|
rs1639458746
|
|
NM_001020658.2(PUM1):c.949A>C (p.Asn317His)
|
rs2124486243
|
|
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_001080414.4(CCDC88C):c.2845G>A (p.Asp949Asn)
|
|
|
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs)
|
rs1555755878
|
|
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)
|
rs1057522420
|
|
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val)
|
rs2059190094
|
|
NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter)
|
rs2059069286
|
|
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_001142633.3(PIK3R5):c.1634G>A (p.Arg545His)
|
|
|
NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala)
|
rs1915232687
|
|
NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu)
|
rs1915315281
|
|
NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg)
|
rs748793270
|
|
NM_001163809.2(WDR81):c.2980C>T (p.Arg994Trp)
|
|
|
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu)
|
rs199995527
|
|
NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro)
|
rs150784268
|
|
NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)
|
|
|
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_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
|
|
|
NM_001278064.2(GRM1):c.2867A>T (p.Asn956Ile)
|
rs1212150882
|
|
NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln)
|
rs2093820776
|
|
NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp)
|
rs2093283649
|
|
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)
|
rs1559603328
|
|
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)
|
rs797044955
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr)
|
rs1719718448
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)
|
|
|
NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile)
|
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly)
|
rs1827120184
|
|
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs)
|
rs755739341
|
|
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg)
|
rs1313170509
|
|
NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter)
|
rs1726269709
|
|
NM_001386140.1(MTTP):c.502-2A>G
|
rs1725410386
|
|
NM_001447.3(FAT2):c.1653del (p.Leu552fs)
|
|
|
NM_001510.4(GRID2):c.-62C>T
|
|
|
NM_001510.4(GRID2):c.121G>T (p.Asp41Tyr)
|
rs1728640535
|
|
NM_001510.4(GRID2):c.1658A>G (p.Glu553Gly)
|
rs752073311
|
|
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
|
|
|
NM_002739.5(PRKCG):c.1210G>A (p.Ala404Thr)
|
rs769292201
|
|
NM_002739.5(PRKCG):c.1712C>G (p.Thr571Ser)
|
|
|
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
|
|
|
NM_002913.5(RFC1):c.398A>G (p.Asn133Ser)
|
rs1739849007
|
|
NM_003047.5(SLC9A1):c.176A>T (p.Asp59Val)
|
|
|
NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe)
|
rs1818184738
|
|
NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro)
|
rs1817930978
|
|
NM_004977.3(KCNC3):c.1255G>A (p.Val419Ile)
|
|
|
NM_004977.3(KCNC3):c.140G>A (p.Gly47Asp)
|
rs2037143763
|
|
NM_004977.3(KCNC3):c.1822A>G (p.Thr608Ala)
|
|
|
NM_006392.4(NOP56):c.1475A>G (p.Gln492Arg)
|
rs2086850165
|
|
NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val)
|
rs866272063
|
|
NM_006946.4(SPTBN2):c.1549C>G (p.Arg517Gly)
|
rs371919862
|
|
NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln)
|
rs1443491358
|
|
NM_006946.4(SPTBN2):c.3777-3C>G
|
|
|
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val)
|
rs1940772032
|
|
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val)
|
rs1940755126
|
|
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)
|
rs1941829953
|
|
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn)
|
rs1473117442
|
|
NM_007254.4(PNKP):c.1227_1228del (p.Cys409_Glu410delinsTer)
|
rs1477525034
|
|
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu)
|
rs2074784919
|
|
NM_014053.4(FLVCR1):c.1516A>T (p.Ile506Leu)
|
rs1665131014
|
|
NM_014053.4(FLVCR1):c.236C>T (p.Ala79Val)
|
rs767746826
|
|
NM_014363.6(SACS):c.10055_10056del (p.Thr3352fs)
|
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
NM_014363.6(SACS):c.10536_10537del (p.Glu3512fs)
|
|
|
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter)
|
rs1593123432
|
|
NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter)
|
|
|
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)
|
rs779338945
|
|
NM_014363.6(SACS):c.10780A>T (p.Ile3594Leu)
|
rs994425261
|
|
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)
|
rs1057517002
|
|
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
|
|
|
NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)
|
|
|
NM_014363.6(SACS):c.10944_10947dup (p.Leu3650fs)
|
|
|
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
|
|
|
NM_014363.6(SACS):c.11109del (p.Cys3704fs)
|
rs2137569412
|
|
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer)
|
rs2137569225
|
|
NM_014363.6(SACS):c.11191del (p.Glu3731fs)
|
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
NM_014363.6(SACS):c.11286_11287del (p.Asp3762fs)
|
|
|
NM_014363.6(SACS):c.11302del (p.Thr3768fs)
|
|
|
NM_014363.6(SACS):c.11361dup (p.Arg3788fs)
|
|
|
NM_014363.6(SACS):c.11373dup (p.Arg3792fs)
|
rs1555249904
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.11406_11409del (p.Trp3803fs)
|
|
|
NM_014363.6(SACS):c.11601_11604del (p.Lys3867fs)
|
|
|
NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)
|
|
|
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs)
|
rs1593121924
|
|
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter)
|
rs745740932
|
|
NM_014363.6(SACS):c.1189dup (p.Ser397fs)
|
|
|
NM_014363.6(SACS):c.11946del (p.Asp3983fs)
|
|
|
NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter)
|
|
|
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)
|
rs141315518
|
|
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)
|
rs1057516365
|
|
NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)
|
|
|
NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter)
|
|
|
NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)
|
|
|
NM_014363.6(SACS):c.12471dup (p.Thr4158fs)
|
|
|
NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)
|
|
|
NM_014363.6(SACS):c.12529dup (p.Tyr4177fs)
|
|
|
NM_014363.6(SACS):c.12707_12708del (p.Ile4236fs)
|
|
|
NM_014363.6(SACS):c.12770_12917del (p.Ser4257fs)
|
|
|
NM_014363.6(SACS):c.12795_12798del (p.Thr4266fs)
|
|
|
NM_014363.6(SACS):c.12839del (p.Phe4280fs)
|
rs1197238841
|
|
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)
|
rs786204628
|
|
NM_014363.6(SACS):c.12860del (p.Lys4287fs)
|
|
|
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
|
rs1057517294
|
|
NM_014363.6(SACS):c.13112dup (p.Asn4371fs)
|
|
|
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs)
|
rs1883405453
|
|
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)
|
rs1057517123
|
|
NM_014363.6(SACS):c.13319C>A (p.Ser4440Ter)
|
|
|
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
|
|
|
NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter)
|
|
|
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)
|
rs1555249106
|
|
NM_014363.6(SACS):c.155G>A (p.Trp52Ter)
|
|
|
NM_014363.6(SACS):c.1627G>A (p.Val543Met)
|
rs752705095
|
|
NM_014363.6(SACS):c.171+1G>A
|
|
|
NM_014363.6(SACS):c.172-2A>G
|
|
|
NM_014363.6(SACS):c.1769_1770del (p.Val590fs)
|
rs1383333220
|
|
NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)
|
|
|
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
|
|
|
NM_014363.6(SACS):c.1965_1966del (p.Leu655_Ser656insTer)
|
|
|
NM_014363.6(SACS):c.2176C>T (p.Gln726Ter)
|
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs)
|
|
|
NM_014363.6(SACS):c.2291G>A (p.Trp764Ter)
|
|
|
NM_014363.6(SACS):c.237dup (p.Ser80fs)
|
rs770311689
|
|
NM_014363.6(SACS):c.2396_2399dup (p.Met800fs)
|
|
|
NM_014363.6(SACS):c.239C>G (p.Ser80Ter)
|
|
|
NM_014363.6(SACS):c.23G>A (p.Trp8Ter)
|
rs1871684539
|
|
NM_014363.6(SACS):c.2503C>T (p.Gln835Ter)
|
|
|
NM_014363.6(SACS):c.257del (p.Gly86fs)
|
|
|
NM_014363.6(SACS):c.25G>A (p.Val9Ile)
|
rs939705811
|
|
NM_014363.6(SACS):c.2620del (p.Ser874fs)
|
|
|
NM_014363.6(SACS):c.2630T>A (p.Leu877Ter)
|
|
|
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)
|
rs1593133395
|
|
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs)
|
rs1326359185
|
|
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)
|
rs1259615333
|
|
NM_014363.6(SACS):c.2938_2939del (p.Met980fs)
|
rs1593133306
|
|
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter)
|
rs1450257625
|
|
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
|
|
|
NM_014363.6(SACS):c.3218dup (p.Pro1075fs)
|
|
|
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)
|
rs770866403
|
|
NM_014363.6(SACS):c.3356del (p.Pro1119fs)
|
rs1057517039
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.351_354del (p.Leu117fs)
|
|
|
NM_014363.6(SACS):c.3557del (p.Met1186fs)
|
|
|
NM_014363.6(SACS):c.3684dup (p.Lys1229Ter)
|
|
|
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
|
rs757179309
|
|
NM_014363.6(SACS):c.388A>T (p.Lys130Ter)
|
|
|
NM_014363.6(SACS):c.3946C>T (p.Gln1316Ter)
|
|
|
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter)
|
rs199474695
|
|
NM_014363.6(SACS):c.4168del (p.Ile1391fs)
|
rs1555252465
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
NM_014363.6(SACS):c.4233_4236del (p.Leu1412fs)
|
|
|
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
|
|
|
NM_014363.6(SACS):c.4424C>A (p.Ser1475Ter)
|
|
|
NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter)
|
|
|
NM_014363.6(SACS):c.4521_4522del (p.Asn1508fs)
|
|
|
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)
|
rs1444216187
|
|
NM_014363.6(SACS):c.4716del (p.Ile1572_Met1573insTer)
|
|
|
NM_014363.6(SACS):c.4760A>G (p.His1587Arg)
|
|
|
NM_014363.6(SACS):c.4762_4763del (p.Ile1588fs)
|
|
|
NM_014363.6(SACS):c.4783_4787del (p.Lys1595fs)
|
|
|
NM_014363.6(SACS):c.4811G>A (p.Trp1604Ter)
|
|
|
NM_014363.6(SACS):c.4884del (p.Gln1628fs)
|
|
|
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer)
|
rs1057516580
|
|
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
|
rs770901638
|
|
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
|
|
|
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)
|
rs1372213267
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5195del (p.Val1731_Leu1732insTer)
|
|
|
NM_014363.6(SACS):c.5379del (p.Phe1793fs)
|
rs1057517297
|
|
NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)
|
|
|
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
|
|
|
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)
|
rs1566067485
|
|
NM_014363.6(SACS):c.5515A>T (p.Arg1839Ter)
|
|
|
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs)
|
rs1593129673
|
|
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)
|
rs1485209013
|
|
NM_014363.6(SACS):c.5809dup (p.Leu1937fs)
|
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
NM_014363.6(SACS):c.604+1_604+4del
|
|
|
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
|
|
|
NM_014363.6(SACS):c.6186dup (p.Pro2063fs)
|
rs2137611917
|
|
NM_014363.6(SACS):c.6282del (p.Thr2095fs)
|
rs1555251853
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)
|
rs770490672
|
|
NM_014363.6(SACS):c.654del (p.Gln219fs)
|
|
|
NM_014363.6(SACS):c.6837dup (p.Glu2280fs)
|
rs748765057
|
|
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
|
|
|
NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr)
|
rs1868664491
|
|
NM_014363.6(SACS):c.699del (p.Asp235fs)
|
rs1415870785
|
|
NM_014363.6(SACS):c.7080_7084del (p.His2362fs)
|
rs1294102415
|
|
NM_014363.6(SACS):c.708del (p.Asp236fs)
|
|
|
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs)
|
rs1057517222
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter)
|
rs2137602382
|
|
NM_014363.6(SACS):c.7255_7259del (p.Glu2419fs)
|
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.7499dup (p.Arg2502fs)
|
|
|
NM_014363.6(SACS):c.7903del (p.Cys2635fs)
|
rs1028098148
|
|
NM_014363.6(SACS):c.8070del (p.Phe2690fs)
|
|
|
NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)
|
|
|
NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys)
|
rs780332615
|
|
NM_014363.6(SACS):c.8148del (p.Pro2717fs)
|
|
|
NM_014363.6(SACS):c.815G>A (p.Arg272His)
|
rs745907077
|
|
NM_014363.6(SACS):c.8239dup (p.Ile2747fs)
|
|
|
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
|
|
|
NM_014363.6(SACS):c.8340del (p.His2781fs)
|
rs753958013
|
|
NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)
|
|
|
NM_014363.6(SACS):c.8404_8407del (p.Ile2802fs)
|
|
|
NM_014363.6(SACS):c.8574_8577del (p.His2859fs)
|
rs1555250991
|
|
NM_014363.6(SACS):c.8589dup (p.Pro2864fs)
|
rs1555250987
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8807del (p.Gly2936fs)
|
|
|
NM_014363.6(SACS):c.896_898delinsCT (p.Phe299fs)
|
|
|
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
|
|
|
NM_014363.6(SACS):c.9119del (p.Asn3040fs)
|
|
|
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
|
|
|
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
|
|
|
NM_014363.6(SACS):c.9376del (p.Asn3125_Leu3126insTer)
|
|
|
NM_014363.6(SACS):c.9390_9391del (p.His3130fs)
|
rs1057517349
|
|
NM_014363.6(SACS):c.9580_9587delinsC (p.Lys3195fs)
|
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
NM_014363.6(SACS):c.9660dup (p.Val3221fs)
|
|
|
NM_014363.6(SACS):c.9663_9664del (p.Leu3222fs)
|
|
|
NM_014363.6(SACS):c.9762del (p.Ser3254_Val3255insTer)
|
|
|
NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)
|
|
|
NM_014363.6(SACS):c.9851del (p.Thr3284fs)
|
|
|
NM_014363.6(SACS):c.9879del (p.Val3294fs)
|
rs2137580025
|
|
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)
|
rs772704931
|
|
NM_014687.4(RUBCN):c.124A>G (p.Thr42Ala)
|
rs1451522942
|
|
NM_015046.7(SETX):c.5809_5811delinsTAC (p.Asp1937Tyr)
|
rs1844713785
|
|
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
|
rs797045067
|
|
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly)
|
rs797045068
|
|
NM_015046.7(SETX):c.6107-7T>A
|
rs766634428
|
|
NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs)
|
rs1564492117
|
|
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val)
|
rs1564464665
|
|
NM_015160.3(PMPCA):c.1205G>C (p.Arg402Pro)
|
rs769031961
|
|
NM_015160.3(PMPCA):c.897+6G>A
|
rs150776126
|
|
NM_015215.4(CAMTA1):c.1187G>A (p.Ser396Asn)
|
rs2095980355
|
|
NM_015215.4(CAMTA1):c.1828C>T (p.Gln610Ter)
|
|
|
NM_015215.4(CAMTA1):c.2235C>A (p.Tyr745Ter)
|
|
|
NM_015215.4(CAMTA1):c.2470T>C (p.Cys824Arg)
|
rs2095989201
|
|
NM_015215.4(CAMTA1):c.2810T>C (p.Val937Ala)
|
rs2096135808
|
|
NM_015215.4(CAMTA1):c.4489G>C (p.Glu1497Gln)
|
|
|
NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter)
|
rs2096866859
|
|
NM_015272.5(RPGRIP1L):c.1499C>A (p.Ala500Glu)
|
rs1029054579
|
|
NM_015272.5(RPGRIP1L):c.1505A>T (p.His502Leu)
|
rs976110882
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
NM_015378.4(VPS13D):c.1183C>T (p.Arg395Ter)
|
rs752359125
|
|
NM_015378.4(VPS13D):c.12227G>A (p.Gly4076Glu)
|
rs1644798894
|
|
NM_015378.4(VPS13D):c.12260G>A (p.Gly4087Glu)
|
|
|
NM_015378.4(VPS13D):c.4451-16A>G
|
rs768036528
|
|
NM_015378.4(VPS13D):c.530A>G (p.Lys177Arg)
|
rs779567569
|
|
NM_015378.4(VPS13D):c.6965A>G (p.Tyr2322Cys)
|
|
|
NM_015378.4(VPS13D):c.8363C>G (p.Pro2788Arg)
|
rs868755481
|
|
NM_016169.4(SUFU):c.71dup (p.Ala25fs)
|
rs587776579
|
|
NM_016373.4(WWOX):c.107+1G>A
|
rs1300924648
|
|
NM_016373.4(WWOX):c.1231_1233del (p.Ser411del)
|
rs770788315
|
|
NM_016373.4(WWOX):c.517-108226G>T
|
rs1057518676
|
|
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)
|
rs1566306570
|
|
NM_016529.6(ATP8A2):c.3469+1G>C
|
rs763272441
|
|
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys)
|
rs200449118
|
|
NM_018075.5(ANO10):c.882C>G (p.Ile294Met)
|
rs2081034644
|
|
NM_018319.4(TDP1):c.764T>G (p.Leu255Trp)
|
rs151271332
|
|
NM_018718.3(CEP41):c.34-2A>G
|
rs1797714974
|
|
NM_018896.5(CACNA1G):c.2911G>T (p.Glu971Ter)
|
rs2045220988
|
|
NM_018896.5(CACNA1G):c.4325A>G (p.Gln1442Arg)
|
rs2047867072
|
|
NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg)
|
rs2050959815
|
|
NM_018896.5(CACNA1G):c.6944C>T (p.Pro2315Leu)
|
rs1192468690
|
|
NM_018896.5(CACNA1G):c.7088T>C (p.Leu2363Pro)
|
rs2053882218
|
|
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter)
|
rs201618750
|
|
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)
|
|
|
NM_020680.4(SCYL1):c.2267G>C (p.Gly756Ala)
|
rs767319743
|
|
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter)
|
rs1320473430
|
|
NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser)
|
rs1851842282
|
|
NM_022464.5(SIL1):c.1012G>A (p.Asp338Asn)
|
|
|
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
|
|
|
NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter)
|
|
|
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
|
|
|
NM_022726.4(ELOVL4):c.163C>G (p.Leu55Val)
|
rs1774342487
|
|
NM_024411.5(PDYN):c.658_659del (p.Trp220fs)
|
rs748307861
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys)
|
rs376622127
|
|
NM_032856.5(WDR73):c.627G>C (p.Trp209Cys)
|
|
|
NM_032856.5(WDR73):c.928G>T (p.Gly310Ter)
|
rs201608269
|
|
NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del)
|
rs750338466
|
|
NM_144992.5(VWA3B):c.1191T>G (p.Tyr397Ter)
|
rs546662496
|
|
NM_144992.5(VWA3B):c.3068C>G (p.Pro1023Arg)
|
rs779799210
|
|
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser)
|
rs2075231562
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)
|
rs398122887
|
|
NM_152617.4(RNF168):c.496A>G (p.Arg166Gly)
|
rs760613076
|
|
NM_152617.4(RNF168):c.559-1_560del
|
|
|
NM_152703.5(SAMD9L):c.2734C>G (p.Gln912Glu)
|
|
|
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_173500.4(TTBK2):c.2720A>G (p.Glu907Gly)
|
rs1476451255
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
NM_182961.4(SYNE1):c.18409G>A (p.Val6137Met)
|
rs945540285
|
|
NM_182961.4(SYNE1):c.18866C>A (p.Ser6289Ter)
|
|
|
NM_182961.4(SYNE1):c.19839del (p.Ile6615fs)
|
|
|
NM_182961.4(SYNE1):c.9821G>A (p.Arg3274Lys)
|
rs2097100149
|
|
NM_198994.3(TGM6):c.64A>G (p.Thr22Ala)
|
rs773079291
|
|