NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_021814.5(ELOVL5):c.246+3891C>T
|
rs150583340
|
0.00704
|
NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg)
|
rs12895357
|
0.00572
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)
|
rs142985368
|
0.00051
|
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met)
|
rs149834738
|
0.00032
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)
|
rs145995735
|
0.00026
|
NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu)
|
rs151078477
|
0.00024
|
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)
|
rs142593312
|
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_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile)
|
rs776461147
|
0.00006
|
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)
|
rs771578775
|
0.00006
|
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)
|
rs119468009
|
0.00006
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_001163809.2(WDR81):c.626C>A (p.Pro209His)
|
rs200343855
|
0.00003
|
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)
|
rs201096140
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)
|
rs121434379
|
0.00003
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)
|
rs201128942
|
0.00003
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His)
|
rs201852582
|
0.00002
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)
|
rs397515524
|
0.00001
|
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro)
|
rs1191799507
|
0.00001
|
NM_001278064.2(GRM1):c.1602G>A (p.Lys534=)
|
rs775323670
|
0.00001
|
NM_001329943.3(KIAA0586):c.2932_2944+4del
|
rs1278372009
|
0.00001
|
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)
|
rs1598820860
|
0.00001
|
NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys)
|
rs200529832
|
0.00001
|
NM_007289.4(MME):c.1511A>T (p.Glu504Val)
|
rs201239248
|
0.00001
|
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)
|
rs281865119
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter)
|
rs747150601
|
0.00001
|
NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser)
|
rs1057519343
|
0.00001
|
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys)
|
rs119468008
|
0.00001
|
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)
|
rs119468005
|
0.00001
|
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)
|
rs80356544
|
0.00001
|
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr)
|
rs80356542
|
0.00001
|
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1
|
|
|
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)
|
rs397508010
|
|
NM_000370.3(TTPA):c.191A>G (p.Asp64Gly)
|
rs397515523
|
|
NM_000370.3(TTPA):c.205-1G>T
|
rs886040963
|
|
NM_000370.3(TTPA):c.303T>G (p.His101Gln)
|
rs121917849
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000370.3(TTPA):c.548T>C (p.Leu183Pro)
|
rs397515525
|
|
NM_000370.3(TTPA):c.552+2T>A
|
rs886040964
|
|
NM_000370.3(TTPA):c.736G>C (p.Gly246Arg)
|
rs397515526
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
NM_000784.4(CYP27A1):c.355del (p.Arg119fs)
|
rs587778793
|
|
NM_001020658.2(PUM1):c.2405C>T (p.Ser802Phe)
|
rs1640045849
|
|
NM_001080414.4(CCDC88C):c.1085C>T (p.Thr362Ile)
|
|
|
NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val)
|
rs1600353470
|
|
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)
|
rs1555755909
|
|
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)
|
rs1599294284
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)
|
rs2144773045
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4515T>G (p.Phe1505Leu)
|
rs757643322
|
|
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val)
|
rs2056444576
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe)
|
|
|
NM_001127222.2(CACNA1A):c.5936A>C (p.Glu1979Ala)
|
|
|
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
|
rs775428832
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)
|
rs121908215
|
|
NM_001142633.3(PIK3R5):c.13G>A (p.Ala5Thr)
|
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001204747.1:c.132+2923_2927AAAAG[(12_200)]
|
|
|
NM_001204747.1:c.132+2923_2927AAAGG[(40_1000)]
|
|
|
NM_001204747.1:c.132+2923_2927AAGGG[(400_2000)]
|
|
|
NM_001204747.1:c.132+2923_2927ACAGG[(400_2000)]
|
|
|
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)
|
rs72554634
|
|
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp)
|
rs515726147
|
|
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)
|
rs121912425
|
|
NM_001378452.1(ITPR1):c.3617A>G (p.Lys1206Arg)
|
|
|
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)
|
rs1559718601
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His)
|
rs1560621495
|
|
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile)
|
rs199422222
|
|
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu)
|
rs767833468
|
|
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr)
|
rs199422221
|
|
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser)
|
rs945307250
|
|
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu)
|
rs121918516
|
|
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)
|
rs1555806333
|
|
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa)
|
rs1555808841
|
|
NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter)
|
rs2068614711
|
|
NM_002739.5(PRKCG):c.285C>G (p.Asp95Glu)
|
rs17854523
|
|
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)
|
rs121918511
|
|
NM_002739.5(PRKCG):c.302A>G (p.His101Arg)
|
rs2068656783
|
|
NM_002739.5(PRKCG):c.303C>G (p.His101Gln)
|
rs121918518
|
|
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)
|
rs121918514
|
|
NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp)
|
rs121918513
|
|
NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)
|
rs386134166
|
|
NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr)
|
rs386134167
|
|
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)
|
rs386134168
|
|
NM_002739.5(PRKCG):c.767T>C (p.Met256Thr)
|
rs2068685112
|
|
NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly)
|
rs386134157
|
|
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31])
|
rs1885090126
|
|
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])
|
rs1885090126
|
|
NM_003383.5(VLDLR):c.1124T>G (p.Val375Gly)
|
|
|
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)
|
rs80338905
|
|
NM_003383.5(VLDLR):c.2339del (p.Ile780fs)
|
rs80338906
|
|
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter)
|
rs80338907
|
|
NM_004715.5(CTDP1):c.863+389C>T
|
rs113994102
|
|
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr)
|
rs151344512
|
|
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)
|
rs2143165387
|
|
NM_006796.3(AFG3L2):c.1958dup (p.Thr654fs)
|
rs2143124461
|
|
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
|
rs151344514
|
|
NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr)
|
rs151344515
|
|
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg)
|
rs151344515
|
|
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)
|
rs151344517
|
|
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu)
|
rs151344518
|
|
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)
|
rs797045221
|
|
NM_006796.3(AFG3L2):c.2065T>A (p.Tyr689Asn)
|
rs1598820860
|
|
NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys)
|
rs151344522
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[280]
|
|
|
NM_014363.6(SACS):c.5917A>G (p.Lys1973Glu)
|
|
|
NM_014363.6(SACS):c.8487G>A (p.Met2829Ile)
|
rs1566062847
|
|
NM_015046.7(SETX):c.193G>A (p.Glu65Lys)
|
rs1554825315
|
|
NM_015215.4(CAMTA1):c.4103_4104del (p.Glu1368fs)
|
rs1577313897
|
|
NM_015215.4(CAMTA1):c.423G>C (p.Lys141Asn)
|
rs1666321359
|
|
NM_015378.4(VPS13D):c.5802A>C (p.Arg1934Ser)
|
|
|
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser)
|
rs767929766
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_018896.5(CACNA1G):c.1471G>T (p.Val491Phe)
|
rs201788352
|
|
NM_020247.5(COQ8A):c.1081-1_1082dup
|
rs1057519344
|
|
NM_020247.5(COQ8A):c.1398+2T>C
|
rs606231138
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs)
|
rs387906298
|
|
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp)
|
rs752130338
|
|
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)
|
rs764847439
|
|
NM_020247.5(COQ8A):c.337G>T (p.Glu113Ter)
|
rs765966679
|
|
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp)
|
rs119468006
|
|
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val)
|
rs119468006
|
|
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val)
|
rs587777671
|
|
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val)
|
rs587777670
|
|
NM_021830.5(TWNK):c.1287C>T (p.Ala429=)
|
rs80356541
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln)
|
rs878855336
|
|
NM_152703.5(SAMD9L):c.2672T>C (p.Ile891Thr)
|
rs1554341277
|
|
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys)
|
rs1554341158
|
|
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser)
|
rs878855337
|
|
NM_153816.6(SNX14):c.2557+1G>A
|
rs200277996
|
|
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs)
|
rs80356539
|
|
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs)
|
rs318240735
|
|
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)
|
rs80356538
|
|
NM_182961.4(SYNE1):c.3930_3931dup (p.His1311fs)
|
rs1592773965
|
|