NM_000546.6(TP53):c.74+38C>G
|
rs1642785
|
0.66254
|
NM_000158.4(GBE1):c.-28G>T
|
rs368460254
|
0.48974
|
NM_003793.4(CTSF):c.126C>T (p.Pro42=)
|
rs1044522
|
0.22868
|
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys)
|
rs16945474
|
0.07291
|
NM_000487.6(ARSA):c.1149C>T (p.Asp383=)
|
rs6151425
|
0.04013
|
NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln)
|
rs4850
|
0.03828
|
NM_024876.4(COQ8B):c.1055C>G (p.Thr352Arg)
|
rs36012476
|
0.03290
|
NM_006351.4(TIMM44):c.1114A>G (p.Ile372Val)
|
rs11542187
|
0.03212
|
NM_020745.4(AARS2):c.2188G>A (p.Val730Met)
|
rs35623954
|
0.03189
|
NM_025219.3(DNAJC5):c.493+22C>T
|
rs75028039
|
0.03082
|
NM_016292.3(TRAP1):c.2075G>A (p.Arg692His)
|
rs2791
|
0.02823
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_006351.4(TIMM44):c.753C>G (p.Asn251Lys)
|
rs118048213
|
0.02546
|
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)
|
rs17325713
|
0.02528
|
NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu)
|
rs141298312
|
0.02511
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
NM_022089.4(ATP13A2):c.3083+24C>T
|
rs55885047
|
0.02459
|
NM_022089.4(ATP13A2):c.3235+17G>A
|
rs56146840
|
0.02453
|
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)
|
rs11539201
|
0.02438
|
NM_024876.4(COQ8B):c.232C>T (p.Arg78Cys)
|
rs11538384
|
0.02355
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_020320.5(RARS2):c.991A>G (p.Ile331Val)
|
rs3757370
|
0.02330
|
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys)
|
rs74637005
|
0.02312
|
NM_015340.4(LARS2):c.972C>A (p.His324Gln)
|
rs71645922
|
0.02237
|
NM_198076.6(COX20):c.42+9G>A
|
rs192100928
|
0.02237
|
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val)
|
rs61732273
|
0.02073
|
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile)
|
rs112780453
|
0.02065
|
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln)
|
rs17313469
|
0.02052
|
NM_016098.4(MPC1):c.106C>A (p.Leu36Ile)
|
rs11557064
|
0.02030
|
NM_012434.5(SLC17A5):c.1111+7G>A
|
rs146729568
|
0.01982
|
NM_001040108.2(MLH3):c.666G>A (p.Lys222=)
|
rs28756980
|
0.01977
|
NM_000289.6(PFKM):c.306C>T (p.Ala102=)
|
rs11552507
|
0.01954
|
NM_001040108.2(MLH3):c.444G>C (p.Val148=)
|
rs11556091
|
0.01944
|
NM_001040108.2(MLH3):c.4242+13C>G
|
rs77157930
|
0.01890
|
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln)
|
rs78651634
|
0.01784
|
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)
|
rs28730701
|
0.01764
|
NM_001011719.2(ARSH):c.1611A>G (p.Pro537=)
|
rs61978642
|
0.01676
|
NM_005002.5(NDUFA9):c.881C>T (p.Pro294Leu)
|
rs34076756
|
0.01666
|
NM_004813.4(PEX16):c.760G>C (p.Val254Leu)
|
rs35214605
|
0.01652
|
NM_004360.5(CDH1):c.2634C>T (p.Gly878=)
|
rs2229044
|
0.01638
|
NM_000144.5(FXN):c.226A>G (p.Met76Val)
|
rs59907886
|
0.01619
|
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile)
|
rs62288347
|
0.01504
|
NM_000308.4(CTSA):c.1360-27C>T
|
rs2077056
|
0.01488
|
NM_018060.4(IARS2):c.23G>T (p.Arg8Leu)
|
rs149324758
|
0.01481
|
NM_000181.4(GUSB):c.724+26_724+27insTT
|
rs139791587
|
0.01479
|
NM_002693.3(POLG):c.128A>G (p.Gln43Arg)
|
rs28567406
|
0.01478
|
NM_000308.4(CTSA):c.53_54del (p.Leu18fs)
|
rs562182818
|
0.01435
|
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=)
|
rs28541364
|
0.01398
|
NM_000308.4(CTSA):c.1255-25G>T
|
rs77361881
|
0.01383
|
NM_000293.3(PHKB):c.318T>C (p.Asp106=)
|
rs17738933
|
0.01382
|
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln)
|
rs4494951
|
0.01364
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
NM_153033.5(KCTD7):c.315-24C>T
|
rs75672175
|
0.01333
|
NM_153033.5(KCTD7):c.654C>T (p.Asp218=)
|
rs117194263
|
0.01331
|
NM_000642.3(AGL):c.3849T>C (p.Ala1283=)
|
rs28730706
|
0.01312
|
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn)
|
rs8178991
|
0.01308
|
NM_000263.4(NAGLU):c.764+19C>G
|
rs77738617
|
0.01306
|
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572
|
0.01280
|
NM_000642.3(AGL):c.3260-19G>A
|
rs140333425
|
0.01279
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
NM_000642.3(AGL):c.1612-24C>A
|
rs115666491
|
0.01263
|
NM_024996.7(GFM1):c.1601+9G>C
|
rs77186707
|
0.01234
|
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val)
|
rs115977487
|
0.01228
|
NM_198834.3(ACACA):c.2082-10_2082-8dup
|
rs147020148
|
0.01218
|
NM_005609.4(PYGM):c.1569C>G (p.Leu523=)
|
rs114138772
|
0.01217
|
NM_000436.4(OXCT1):c.480G>T (p.Gly160=)
|
rs78432029
|
0.01211
|
NM_000308.4(CTSA):c.51del (p.Leu18fs)
|
rs564815597
|
0.01174
|
NM_000046.5(ARSB):c.312+29C>T
|
rs537289342
|
0.01168
|
NM_000512.5(GALNS):c.1413C>T (p.Val471=)
|
rs73251084
|
0.01159
|
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=)
|
rs115275192
|
0.01140
|
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
NM_182760.4(SUMF1):c.1015-22C>T
|
rs77991674
|
0.01138
|
NM_018060.4(IARS2):c.1564A>G (p.Ile522Val)
|
rs11800305
|
0.01131
|
NM_004046.6(ATP5F1A):c.667A>G (p.Ile223Val)
|
rs77958705
|
0.01119
|
NM_003705.5(SLC25A12):c.728G>A (p.Arg243Lys)
|
rs35881803
|
0.01111
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_006294.5(UQCRB):c.195G>A (p.Arg65=)
|
rs11558865
|
0.01093
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=)
|
rs77290575
|
0.01088
|
NM_004565.3(PEX14):c.768G>A (p.Val256=)
|
rs36083022
|
0.01070
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_000528.4(MAN2B1):c.2436+17C>T
|
rs148420017
|
0.01054
|
NM_017866.6(TMEM70):c.580G>A (p.Val194Met)
|
rs77410280
|
0.01045
|
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr)
|
rs34270473
|
0.01029
|
NM_000512.5(GALNS):c.1002+17C>T
|
rs78494153
|
0.01020
|
NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile)
|
rs188718836
|
0.01018
|
NM_001011719.2(ARSH):c.563G>A (p.Arg188His)
|
rs142811205
|
0.01014
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_000249.4(MLH1):c.1039-29del
|
rs746933807
|
0.01004
|
NM_000108.5(DLD):c.249T>C (p.Val83=)
|
rs2228664
|
0.00985
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_002637.4(PHKA1):c.538-25T>C
|
rs149014464
|
0.00963
|
NM_001040108.2(MLH3):c.3570+28A>T
|
rs67547819
|
0.00949
|
NM_005138.3(SCO2):c.776C>T (p.Ala259Val)
|
rs8139305
|
0.00949
|
NM_000108.5(DLD):c.777A>G (p.Lys259=)
|
rs1065762
|
0.00944
|
NM_002076.4(GNS):c.21C>G (p.Ala7=)
|
rs61743823
|
0.00937
|
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg)
|
rs7116126
|
0.00931
|
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala)
|
rs73346297
|
0.00930
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
NM_020686.6(ABAT):c.603+3G>A
|
rs41312254
|
0.00925
|
NM_022042.4(SLC26A1):c.*878G>A
|
rs147498923
|
0.00924
|
NM_001011719.2(ARSH):c.340+18T>G
|
rs146474927
|
0.00922
|
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=)
|
rs149101873
|
0.00911
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
NM_004565.3(PEX14):c.213C>G (p.Gly71=)
|
rs41274482
|
0.00899
|
NM_006351.4(TIMM44):c.184G>A (p.Gly62Ser)
|
rs144317041
|
0.00890
|
NM_004035.7(ACOX1):c.921G>A (p.Arg307=)
|
rs79677613
|
0.00869
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_000512.5(GALNS):c.723C>T (p.Ala241=)
|
rs117053987
|
0.00855
|
NM_000293.3(PHKB):c.2244C>G (p.Leu748=)
|
rs34717357
|
0.00851
|
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr)
|
rs34225615
|
0.00845
|
NM_000391.4(TPP1):c.1076-18A>G
|
rs78676565
|
0.00826
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_213595.4(ISCU):c.51G>A (p.Leu17=)
|
rs112552261
|
0.00804
|
NM_182760.4(SUMF1):c.-9C>T
|
rs148200251
|
0.00803
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_000512.5(GALNS):c.899-4C>G
|
rs143793386
|
0.00779
|
NM_000642.3(AGL):c.2802A>C (p.Ala934=)
|
rs34230588
|
0.00775
|
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp)
|
rs12918964
|
0.00765
|
NM_003793.4(CTSF):c.939G>A (p.Gly313=)
|
rs114727660
|
0.00758
|
NM_130837.3(OPA1):c.2961C>T (p.Arg987=)
|
rs35540805
|
0.00758
|
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys)
|
rs35501326
|
0.00753
|
NM_130837.3(OPA1):c.2049A>G (p.Val683=)
|
rs73069703
|
0.00753
|
NM_000310.4(PPT1):c.536+25T>C
|
rs16826876
|
0.00744
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
NM_006432.5(NPC2):c.442-4A>C
|
rs114950106
|
0.00742
|
NM_020191.4(MRPS22):c.201A>G (p.Lys67=)
|
rs11556243
|
0.00739
|
NM_004085.4(TIMM8A):c.-6C>T
|
rs180806413
|
0.00726
|
NM_020686.6(ABAT):c.1269+4A>C
|
rs183947905
|
0.00716
|
NM_000512.5(GALNS):c.775C>A (p.Arg259=)
|
rs61742258
|
0.00707
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
NM_000038.6(APC):c.4326T>A (p.Pro1442=)
|
rs67622085
|
0.00705
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00700
|
NM_025152.3(NUBPL):c.-1C>T
|
rs45468395
|
0.00691
|
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)
|
rs61757217
|
0.00689
|
NM_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00678
|
NM_000153.4(GALC):c.1302C>T (p.Ser434=)
|
rs3213918
|
0.00674
|
NM_001193313.2(SUGCT):c.1226C>T (p.Thr409Met)
|
rs192063213
|
0.00672
|
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu)
|
rs145082938
|
0.00672
|
NM_001916.5(CYC1):c.960A>C (p.Ala320=)
|
rs35387134
|
0.00671
|
NM_000108.5(DLD):c.34G>A (p.Ala12Thr)
|
rs75077312
|
0.00666
|
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)
|
rs143732206
|
0.00657
|
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)
|
rs151181674
|
0.00646
|
NM_004614.5(TK2):c.94C>T (p.Arg32Trp)
|
rs200121712
|
0.00636
|
NM_001083614.2(EARS2):c.402C>T (p.Thr134=)
|
rs116657756
|
0.00624
|
NM_032520.5(GNPTG):c.255G>A (p.Pro85=)
|
rs76594024
|
0.00606
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_000512.5(GALNS):c.1242+29G>A
|
rs115524203
|
0.00597
|
NM_017827.4(SARS2):c.248C>T (p.Ser83Leu)
|
rs34050897
|
0.00595
|
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=)
|
rs146292053
|
0.00593
|
NM_002617.4(PEX10):c.113-26C>T
|
rs41315652
|
0.00590
|
NM_000271.5(NPC1):c.1554-1016C>T
|
rs145998218
|
0.00584
|
NM_006012.4(CLPP):c.368-8G>A
|
rs143053584
|
0.00583
|
NM_006351.4(TIMM44):c.69A>G (p.Gln23=)
|
rs35992331
|
0.00569
|
NM_020442.6(VARS2):c.423G>A (p.Met141Ile)
|
rs141408930
|
0.00569
|
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)
|
rs34778324
|
0.00568
|
NM_014402.5(UQCRQ):c.108C>G (p.Pro36=)
|
rs36093416
|
0.00563
|
NM_001909.5(CTSD):c.1072-7G>A
|
rs149019571
|
0.00560
|
NM_001040108.2(MLH3):c.408T>C (p.Asp136=)
|
rs61755655
|
0.00552
|
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=)
|
rs77484245
|
0.00552
|
NM_004208.4(AIFM1):c.1833T>C (p.His611=)
|
rs73556209
|
0.00551
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
NM_002087.4(GRN):c.264+7G>A
|
rs60100877
|
0.00548
|
NM_000158.4(GBE1):c.143+11A>C
|
rs145918282
|
0.00545
|
NM_001079866.2(BCS1L):c.-49-530C>T
|
rs115162602
|
0.00544
|
NM_153638.4(PANK2):c.276G>A (p.Arg92=)
|
rs142832849
|
0.00544
|
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)
|
rs57474185
|
0.00543
|
NM_004563.4(PCK2):c.190G>A (p.Asp64Asn)
|
rs10132601
|
0.00541
|
NM_005359.6(SMAD4):c.*11C>T
|
rs11663402
|
0.00538
|
NM_016292.3(TRAP1):c.757A>G (p.Ile253Val)
|
rs113476582
|
0.00536
|
NM_000310.4(PPT1):c.363-18C>G
|
rs143235344
|
0.00531
|
NM_000290.4(PGAM2):c.366G>A (p.Pro122=)
|
rs143830182
|
0.00529
|
NM_002617.4(PEX10):c.6C>G (p.Ala2=)
|
rs112471479
|
0.00523
|
NM_000434.4(NEU1):c.352+27C>T
|
rs41267078
|
0.00516
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=)
|
rs146111948
|
0.00507
|
NM_001278716.2(FBXL4):c.978A>G (p.Gln326=)
|
rs61744041
|
0.00506
|
NM_018109.4(MTPAP):c.158-9C>T
|
rs139217290
|
0.00503
|
NM_005908.4(MANBA):c.177+26G>A
|
rs369306444
|
0.00498
|
NM_001040108.2(MLH3):c.3987+15C>T
|
rs117251698
|
0.00496
|
NM_000251.3(MSH2):c.984C>T (p.Ala328=)
|
rs4987189
|
0.00495
|
NM_001909.5(CTSD):c.828-19A>C
|
rs200047861
|
0.00494
|
NM_002055.5(GFAP):c.720G>T (p.Thr240=)
|
rs2229012
|
0.00494
|
NM_018122.5(DARS2):c.228-21_228-20insC
|
rs367543010
|
0.00491
|
NM_024876.4(COQ8B):c.381G>A (p.Gly127=)
|
rs55895642
|
0.00488
|
NM_000287.4(PEX6):c.330C>G (p.Thr110=)
|
rs140486558
|
0.00486
|
NM_004614.5(TK2):c.231+10C>T
|
rs187517309
|
0.00486
|
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly)
|
rs113722817
|
0.00485
|
NM_003501.3(ACOX3):c.1439G>C (p.Arg480Pro)
|
rs114126152
|
0.00484
|
NM_001371596.2(MFSD8):c.199-8T>C
|
rs112721309
|
0.00481
|
NM_004563.4(PCK2):c.747C>T (p.Phe249=)
|
rs149974910
|
0.00478
|
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr)
|
rs147727753
|
0.00476
|
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)
|
rs144125742
|
0.00475
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
NM_000152.5(GAA):c.546+18G>A
|
rs190153982
|
0.00474
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
NM_001909.5(CTSD):c.353-12C>T
|
rs141523461
|
0.00468
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_000181.4(GUSB):c.1245-15C>T
|
rs62470935
|
0.00464
|
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp)
|
rs147332381
|
0.00464
|
NM_012062.5(DNM1L):c.966C>T (p.Tyr322=)
|
rs118169466
|
0.00464
|
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val)
|
rs77539990
|
0.00463
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val)
|
rs9934849
|
0.00453
|
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His)
|
rs114142266
|
0.00447
|
NM_000179.3(MSH6):c.3173-97T>C
|
rs138463559
|
0.00436
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
NM_012208.4(HARS2):c.868C>T (p.Leu290=)
|
rs73273316
|
0.00427
|
NM_016098.4(MPC1):c.30G>A (p.Ala10=)
|
rs79498685
|
0.00426
|
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)
|
rs61737992
|
0.00419
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_000249.4(MLH1):c.453+25A>G
|
rs4647246
|
0.00414
|
NM_000038.6(APC):c.933+30A>G
|
rs145211300
|
0.00412
|
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met)
|
rs149660059
|
0.00412
|
NM_198834.3(ACACA):c.547C>A (p.Arg183=)
|
rs111441513
|
0.00408
|
NM_016013.4(NDUFAF1):c.-6T>G
|
rs180730324
|
0.00404
|
NM_003501.3(ACOX3):c.378+11G>A
|
rs146248344
|
0.00400
|
NM_024876.4(COQ8B):c.1347C>T (p.Phe449=)
|
rs142420160
|
0.00400
|
NM_001698.3(AUH):c.927A>G (p.Glu309=)
|
rs78739693
|
0.00399
|
NM_000249.4(MLH1):c.307-29C>A
|
rs139620056
|
0.00398
|
NM_004360.5(CDH1):c.532-18C>T
|
rs200673941
|
0.00398
|
NM_024312.5(GNPTAB):c.204-21G>C
|
rs12322848
|
0.00393
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_000642.3(AGL):c.3384G>A (p.Ala1128=)
|
rs149393587
|
0.00383
|
NM_000290.4(PGAM2):c.375G>A (p.Pro125=)
|
rs145985559
|
0.00382
|
NM_014324.6(AMACR):c.837G>A (p.Thr279=)
|
rs35655488
|
0.00378
|
NM_018122.5(DARS2):c.1192-28del
|
rs60221533
|
0.00376
|
NM_000642.3(AGL):c.2883A>G (p.Arg961=)
|
rs113625417
|
0.00375
|
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=)
|
rs183012002
|
0.00375
|
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)
|
rs2723669
|
0.00374
|
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=)
|
rs34715591
|
0.00373
|
NM_000642.3(AGL):c.3362+22T>A
|
rs79435569
|
0.00373
|
NM_000199.5(SGSH):c.249+25G>T
|
rs200104349
|
0.00372
|
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met)
|
rs118053940
|
0.00372
|
NM_004360.5(CDH1):c.-84G>A
|
rs374268061
|
0.00369
|
NM_014297.5(ETHE1):c.227-9C>G
|
rs199921503
|
0.00367
|
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=)
|
rs76767223
|
0.00362
|
NM_000487.6(ARSA):c.1002C>T (p.Ser334=)
|
rs147027229
|
0.00358
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)
|
rs148036492
|
0.00346
|
NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr)
|
rs61745091
|
0.00343
|
NM_020442.6(VARS2):c.607G>A (p.Gly203Arg)
|
rs73430135
|
0.00342
|
NM_005984.5(SLC25A1):c.894T>C (p.Asp298=)
|
rs144180074
|
0.00340
|
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)
|
rs34355306
|
0.00335
|
NM_000642.3(AGL):c.3260-20T>C
|
rs17121560
|
0.00332
|
NM_020442.6(VARS2):c.876G>A (p.Val292=)
|
rs147636694
|
0.00332
|
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=)
|
rs149613968
|
0.00328
|
NM_006351.4(TIMM44):c.138A>G (p.Pro46=)
|
rs145509783
|
0.00327
|
NM_024884.3(L2HGDH):c.6G>T (p.Val2=)
|
rs113626637
|
0.00324
|
NM_025215.6(PUS1):c.999G>C (p.Leu333=)
|
rs150359622
|
0.00323
|
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=)
|
rs147210645
|
0.00323
|
NM_020686.6(ABAT):c.817-6A>G
|
rs140106845
|
0.00319
|
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255
|
0.00318
|
NM_000436.4(OXCT1):c.733-3T>C
|
rs77000151
|
0.00315
|
NM_002979.5(SCP2):c.675-6T>C
|
rs115815213
|
0.00313
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
NM_004553.6(NDUFS6):c.96C>A (p.Val32=)
|
rs140619622
|
0.00311
|
NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg)
|
rs117510230
|
0.00309
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
NM_002858.4(ABCD3):c.1356A>G (p.Gly452=)
|
rs147293586
|
0.00308
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)
|
rs116827211
|
0.00302
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=)
|
rs142023670
|
0.00298
|
NM_198834.3(ACACA):c.1009-3A>C
|
rs184995115
|
0.00298
|
NM_198834.3(ACACA):c.6924G>A (p.Ala2308=)
|
rs141608509
|
0.00298
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
NM_000396.4(CTSK):c.675A>G (p.Arg225=)
|
rs41271965
|
0.00297
|
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)
|
rs45576136
|
0.00296
|
NM_002488.5(NDUFA2):c.129G>A (p.Glu43=)
|
rs73271536
|
0.00293
|
NM_000038.6(APC):c.3165A>T (p.Ile1055=)
|
rs61734287
|
0.00286
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_003172.4(SURF1):c.54+10G>A
|
rs587598397
|
0.00276
|
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile)
|
rs61743028
|
0.00274
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00272
|
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=)
|
rs114168492
|
0.00272
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_003465.3(CHIT1):c.26-22C>T
|
rs142814183
|
0.00268
|
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
NM_016035.5(COQ4):c.424G>A (p.Ala142Thr)
|
rs34043652
|
0.00268
|
NM_000292.3(PHKA2):c.3282+13G>A
|
rs200925279
|
0.00267
|
NM_002863.5(PYGL):c.1683C>T (p.Ser561=)
|
rs145471351
|
0.00262
|
NM_004937.3(CTNS):c.462-7C>A
|
rs189632527
|
0.00259
|
NM_000038.6(APC):c.3264G>A (p.Lys1088=)
|
rs114774495
|
0.00255
|
NM_000286.3(PEX12):c.680+26T>C
|
rs141894911
|
0.00255
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_000308.4(CTSA):c.105C>T (p.Ile35=)
|
rs150140984
|
0.00238
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
NM_001610.4(ACP2):c.773-20C>T
|
rs111271272
|
0.00237
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
NM_000126.4(ETFA):c.186+7A>G
|
rs184587113
|
0.00231
|
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=)
|
rs147754092
|
0.00231
|
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr)
|
rs140796438
|
0.00229
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_001011719.2(ARSH):c.428T>G (p.Val143Gly)
|
rs143533816
|
0.00227
|
NM_005609.4(PYGM):c.1403+24G>A
|
rs71581782
|
0.00226
|
NM_000153.4(GALC):c.1862G>A (p.Arg621His)
|
rs192911803
|
0.00224
|
NM_003465.3(CHIT1):c.258-6T>C
|
rs184235051
|
0.00223
|
NM_005670.4(EPM2A):c.393G>A (p.Glu131=)
|
rs61758155
|
0.00223
|
NM_001953.5(TYMP):c.735G>A (p.Gln245=)
|
rs139223629
|
0.00222
|
NM_001303.4(COX10):c.929-7C>T
|
rs62052075
|
0.00220
|
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)
|
rs36100288
|
0.00220
|
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)
|
rs117880912
|
0.00217
|
NM_000925.4(PDHB):c.132T>C (p.Asp44=)
|
rs11542399
|
0.00216
|
NM_000466.3(PEX1):c.473-3C>T
|
rs150576000
|
0.00213
|
NM_020549.5(CHAT):c.438C>T (p.Tyr146=)
|
rs61731734
|
0.00210
|
NM_020745.4(AARS2):c.2253G>A (p.Gly751=)
|
rs78397386
|
0.00210
|
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu)
|
rs149102738
|
0.00209
|
NM_002541.4(OGDH):c.936-7G>A
|
rs116644435
|
0.00209
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_016360.4(TACO1):c.498T>C (p.His166=)
|
rs17549732
|
0.00202
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_020549.5(CHAT):c.1248C>T (p.Asn416=)
|
rs116071049
|
0.00187
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=)
|
rs193102273
|
0.00182
|
NM_198834.3(ACACA):c.3475-10T>C
|
rs192888791
|
0.00182
|
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala)
|
rs34305721
|
0.00181
|
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)
|
rs144486825
|
0.00176
|
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)
|
rs116424900
|
0.00176
|
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
NM_007215.4(POLG2):c.927C>T (p.His309=)
|
rs73332195
|
0.00175
|
NM_016292.3(TRAP1):c.933T>C (p.His311=)
|
rs142413437
|
0.00172
|
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile)
|
rs73496064
|
0.00172
|
NM_000235.4(LIPA):c.756A>C (p.Ile252=)
|
rs145037134
|
0.00170
|
NM_004655.4(AXIN2):c.1713-18G>A
|
rs147664289
|
0.00169
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
NM_000203.5(IDUA):c.1524+24G>A
|
rs538040010
|
0.00167
|
NM_004544.4(NDUFA10):c.548-9A>G
|
rs147876332
|
0.00166
|
NM_007294.4(BRCA1):c.21C>T (p.Arg7=)
|
rs149402012
|
0.00165
|
NM_000249.4(MLH1):c.885-24T>A
|
rs201594027
|
0.00164
|
NM_001386393.1(PANK2):c.489G>A (p.Leu163=)
|
rs71647837
|
0.00164
|
NM_001953.5(TYMP):c.1074A>G (p.Arg358=)
|
rs372847627
|
0.00163
|
NM_012208.4(HARS2):c.324T>C (p.Tyr108=)
|
rs143687204
|
0.00162
|
NM_000038.6(APC):c.120G>A (p.Glu40=)
|
rs142720069
|
0.00161
|
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)
|
rs11556797
|
0.00161
|
NM_000179.3(MSH6):c.3801+17T>C
|
rs3136365
|
0.00159
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00159
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000294.3(PHKG2):c.288C>T (p.Ser96=)
|
rs56029513
|
0.00158
|
NM_014236.4(GNPAT):c.925-16G>A
|
rs41305723
|
0.00157
|
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=)
|
rs113840224
|
0.00155
|
NM_001916.5(CYC1):c.454-9C>T
|
rs191769818
|
0.00152
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_021147.5(CCNO):c.134C>A (p.Pro45His)
|
rs139606873
|
0.00150
|
NM_000152.5(GAA):c.692+17G>C
|
rs199559553
|
0.00147
|
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn)
|
rs142656537
|
0.00146
|
NM_000038.6(APC):c.6921G>A (p.Ser2307=)
|
rs2229993
|
0.00143
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_004360.5(CDH1):c.1272C>T (p.Val424=)
|
rs61756284
|
0.00143
|
NM_000251.3(MSH2):c.1661+73A>G
|
rs180805863
|
0.00142
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=)
|
rs142775086
|
0.00136
|
NM_005005.3(NDUFB9):c.201C>T (p.Ala67=)
|
rs142579814
|
0.00135
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
NM_212552.3(BOLA3):c.258+9A>C
|
rs201380456
|
0.00133
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_000405.5(GM2A):c.427-22C>T
|
rs183697013
|
0.00131
|
NM_000925.4(PDHB):c.198A>G (p.Ala66=)
|
rs138621975
|
0.00130
|
NM_000159.4(GCDH):c.1143C>T (p.Ile381=)
|
rs142553521
|
0.00128
|
NM_001040108.2(MLH3):c.4242+28G>C
|
rs188956387
|
0.00128
|
NM_014324.6(AMACR):c.-22C>G
|
rs35448266
|
0.00123
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_145691.4(ATPAF2):c.346T>C (p.Leu116=)
|
rs144484457
|
0.00118
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_000038.6(APC):c.423-17T>A
|
rs534684461
|
0.00114
|
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=)
|
rs143015234
|
0.00114
|
NM_130837.3(OPA1):c.2880A>G (p.Arg960=)
|
rs144898877
|
0.00109
|
NM_002103.5(GYS1):c.234A>G (p.Glu78=)
|
rs146683677
|
0.00107
|
NM_000046.5(ARSB):c.903C>T (p.Asn301=)
|
rs147495977
|
0.00106
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
NM_000434.4(NEU1):c.408G>A (p.Gly136=)
|
rs41267074
|
0.00106
|
NM_004453.4(ETFDH):c.1812G>A (p.Val604=)
|
rs17843967
|
0.00103
|
NM_000046.5(ARSB):c.82C>T (p.Leu28=)
|
rs138587718
|
0.00101
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_001303.4(COX10):c.981C>T (p.Asn327=)
|
rs146175179
|
0.00098
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_003465.3(CHIT1):c.447C>T (p.Ala149=)
|
rs139891908
|
0.00094
|
NM_020533.3(MCOLN1):c.32-10A>G
|
rs371191277
|
0.00093
|
NM_000038.6(APC):c.835-24A>T
|
rs200399868
|
0.00091
|
NM_001739.2(CA5A):c.214A>C (p.Arg72=)
|
rs150841082
|
0.00088
|
NM_000152.5(GAA):c.1755-18T>C
|
rs201399518
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu)
|
rs151241589
|
0.00081
|
NM_000202.8(IDS):c.1181-13C>T
|
rs188486717
|
0.00078
|
NM_005670.4(EPM2A):c.24G>A (p.Val8=)
|
rs587780938
|
0.00077
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
NM_004453.4(ETFDH):c.832-10T>G
|
rs200911913
|
0.00076
|
NM_004655.4(AXIN2):c.270C>T (p.Asp90=)
|
rs141655687
|
0.00076
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)
|
rs148575027
|
0.00074
|
NM_001010867.4(IBA57):c.210G>C (p.Leu70=)
|
rs199589485
|
0.00073
|
NM_018838.5(NDUFA12):c.66C>G (p.Gly22=)
|
rs141719682
|
0.00073
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
NM_020320.5(RARS2):c.456T>C (p.Asn152=)
|
rs141374913
|
0.00070
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_001040108.2(MLH3):c.3571-26G>T
|
rs369710216
|
0.00069
|
NM_005908.4(MANBA):c.*8T>G
|
rs199881261
|
0.00068
|
NM_024120.5(NDUFAF5):c.216G>A (p.Lys72=)
|
rs377716355
|
0.00067
|
NM_001008215.3(COA5):c.*3C>G
|
rs372867268
|
0.00065
|
NM_000249.4(MLH1):c.1039-25T>A
|
rs764852270
|
0.00064
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
NM_003366.4(UQCRC2):c.582C>T (p.Asp194=)
|
rs146640786
|
0.00063
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00060
|
NM_020549.5(CHAT):c.327G>A (p.Thr109=)
|
rs79914771
|
0.00060
|
NM_001040716.2(PC):c.216G>A (p.Thr72=)
|
rs117711892
|
0.00058
|
NM_000152.5(GAA):c.858+8G>A
|
rs5822325
|
0.00055
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_007294.4(BRCA1):c.301+8T>C
|
rs80358101
|
0.00054
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
NM_198076.6(COX20):c.87C>T (p.Cys29=)
|
rs140032239
|
0.00052
|
NM_000027.4(AGA):c.127+22G>A
|
rs369583737
|
0.00051
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
NM_004655.4(AXIN2):c.1908-21C>G
|
rs190627728
|
0.00051
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_000249.4(MLH1):c.1039-24T>A
|
rs1285179213
|
0.00048
|
NM_005006.7(NDUFS1):c.153+9A>G
|
rs200675161
|
0.00048
|
NM_005006.7(NDUFS1):c.873-9G>A
|
rs180899908
|
0.00048
|
NM_007103.4(NDUFV1):c.348C>T (p.Asn116=)
|
rs139824241
|
0.00047
|
NM_000271.5(NPC1):c.1554-1010C>T
|
rs142706876
|
0.00046
|
NM_000310.4(PPT1):c.799-19A>C
|
rs367820578
|
0.00046
|
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=)
|
rs200573256
|
0.00046
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
NM_000642.3(AGL):c.39C>T (p.Asn13=)
|
rs138203039
|
0.00045
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)
|
rs146522699
|
0.00044
|
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)
|
rs150269172
|
0.00043
|
NM_020442.6(VARS2):c.864G>A (p.Ser288=)
|
rs59234326
|
0.00043
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
NM_001040436.3(YARS2):c.870T>C (p.Val290=)
|
rs142067801
|
0.00041
|
NM_024312.5(GNPTAB):c.3335+14G>A
|
rs141927805
|
0.00041
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
NM_000249.4(MLH1):c.198C>T (p.Thr66=)
|
rs61751642
|
0.00040
|
NM_004329.3(BMPR1A):c.430+25G>A
|
rs200416589
|
0.00040
|
NM_213595.4(ISCU):c.448C>T (p.Leu150=)
|
rs11548226
|
0.00039
|
NM_000038.6(APC):c.730-22G>C
|
rs115634618
|
0.00037
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)
|
rs200916673
|
0.00034
|
NM_000293.3(PHKB):c.3145-25C>G
|
rs144484726
|
0.00032
|
NM_001098.3(ACO2):c.987C>T (p.Asp329=)
|
rs140823998
|
0.00031
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
NM_000382.3(ALDH3A2):c.465A>G (p.Leu155=)
|
rs149865400
|
0.00030
|
NM_001953.5(TYMP):c.1443G>A (p.Gln481=)
|
rs377497287
|
0.00030
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
NM_006012.4(CLPP):c.216C>T (p.Ala72=)
|
rs746981582
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_000038.6(APC):c.221-29G>C
|
rs369645686
|
0.00025
|
NM_000251.3(MSH2):c.1277-16T>C
|
rs368653974
|
0.00024
|
NM_014363.6(SACS):c.8577C>T (p.His2859=)
|
rs140016265
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_005763.4(AASS):c.168G>A (p.Lys56=)
|
rs141727397
|
0.00023
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
NM_000038.6(APC):c.1419G>A (p.Gln473=)
|
rs141579422
|
0.00021
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=)
|
rs72944827
|
0.00021
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)
|
rs55794205
|
0.00019
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
NM_000528.4(MAN2B1):c.2766C>T (p.Ala922=)
|
rs150866794
|
0.00018
|
NM_000546.6(TP53):c.1014C>T (p.Phe338=)
|
rs150293825
|
0.00018
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
NM_004360.5(CDH1):c.1353T>C (p.Ile451=)
|
rs114192597
|
0.00014
|
NM_015340.4(LARS2):c.1383T>C (p.Ile461=)
|
rs35347543
|
0.00014
|
NM_001909.5(CTSD):c.1077G>A (p.Ser359=)
|
rs138940129
|
0.00013
|
NM_017827.4(SARS2):c.1317C>T (p.Thr439=)
|
rs556892787
|
0.00013
|
NM_022089.4(ATP13A2):c.3235+13G>A
|
rs369278996
|
0.00013
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000249.4(MLH1):c.843A>C (p.Ala281=)
|
rs146796765
|
0.00012
|
NM_001126121.2(SLC25A19):c.567C>T (p.Ala189=)
|
rs370578595
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
NM_000143.4(FH):c.6C>T (p.Tyr2=)
|
rs199971078
|
0.00011
|
NM_000382.3(ALDH3A2):c.1208-30A>C
|
rs376485655
|
0.00011
|
NM_001136193.2(FASTKD2):c.1080T>C (p.Leu360=)
|
rs376045225
|
0.00011
|
NM_138395.4(MARS2):c.60C>T (p.Leu20=)
|
rs201033319
|
0.00011
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000251.3(MSH2):c.1386+23T>G
|
rs747646424
|
0.00010
|
NM_000314.8(PTEN):c.-290A>T
|
rs985226639
|
0.00010
|
NM_002693.3(POLG):c.2724C>T (p.Ala908=)
|
rs377390914
|
0.00010
|
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=)
|
rs11571654
|
0.00009
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
NM_000251.3(MSH2):c.2802G>A (p.Thr934=)
|
rs150259097
|
0.00009
|
NM_000455.5(STK11):c.862+26A>C
|
rs762458568
|
0.00009
|
NM_005566.4(LDHA):c.435C>T (p.Tyr145=)
|
rs770829264
|
0.00009
|
NM_000038.6(APC):c.4212C>A (p.Ser1404=)
|
rs144655979
|
0.00008
|
NM_000038.6(APC):c.729+31A>G
|
rs374626709
|
0.00007
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
NM_000271.5(NPC1):c.2130+26T>A
|
rs201543574
|
0.00006
|
NM_001386393.1(PANK2):c.132C>T (p.Asp44=)
|
rs781106176
|
0.00006
|
NM_001739.2(CA5A):c.267G>A (p.Ala89=)
|
rs377436710
|
0.00006
|
NM_005984.5(SLC25A1):c.711A>T (p.Gly237=)
|
rs375963287
|
0.00006
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
NM_015294.6(TRIM37):c.2136C>T (p.Ser712=)
|
rs768860943
|
0.00006
|
NM_015294.6(TRIM37):c.2169A>G (p.Ala723=)
|
rs771713259
|
0.00006
|
NM_018122.5(DARS2):c.1192-29_1192-28del
|
rs1491323897
|
0.00006
|
NM_020745.4(AARS2):c.147C>T (p.Phe49=)
|
rs766876544
|
0.00006
|
NM_024120.5(NDUFAF5):c.222+8C>G
|
rs113659919
|
0.00006
|
NM_025150.5(TARS2):c.2052G>C (p.Arg684=)
|
rs74443150
|
0.00006
|
NM_032901.4(COX14):c.150A>G (p.Glu50=)
|
rs372336241
|
0.00006
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
NM_000179.3(MSH6):c.2239C>T (p.Leu747=)
|
rs63751305
|
0.00005
|
NM_000642.3(AGL):c.1971A>G (p.Thr657=)
|
rs767863471
|
0.00005
|
NM_001040108.2(MLH3):c.3828-15A>C
|
rs200169541
|
0.00005
|
NM_002693.3(POLG):c.125G>A (p.Arg42Gln)
|
rs74382477
|
0.00005
|
NM_014324.6(AMACR):c.204T>A (p.Arg68=)
|
rs1057472198
|
0.00005
|
NM_018127.7(ELAC2):c.983+9G>A
|
rs760385942
|
0.00005
|
NM_000038.6(APC):c.3876G>A (p.Thr1292=)
|
rs377494451
|
0.00004
|
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)
|
rs80358896
|
0.00004
|
NM_000179.3(MSH6):c.2904C>G (p.Val968=)
|
rs150683226
|
0.00004
|
NM_000179.3(MSH6):c.4002-25T>C
|
rs199500983
|
0.00004
|
NM_000314.8(PTEN):c.-121A>G
|
rs886047395
|
0.00004
|
NM_001042432.2(CLN3):c.*29A>G
|
rs778438984
|
0.00004
|
NM_001278716.2(FBXL4):c.9G>A (p.Pro3=)
|
rs773041308
|
0.00004
|
NM_001351132.2(PEX5):c.147+59A>C
|
rs183090244
|
0.00004
|
NM_002633.3(PGM1):c.99C>T (p.Ala33=)
|
rs373394538
|
0.00004
|
NM_004655.4(AXIN2):c.2004G>A (p.Gly668=)
|
rs144092307
|
0.00004
|
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val)
|
rs80356874
|
0.00004
|
NM_017827.4(SARS2):c.1347+9C>T
|
rs371086137
|
0.00004
|
NM_177924.5(ASAH1):c.258A>G (p.Thr86=)
|
rs572874216
|
0.00004
|
NM_000038.6(APC):c.477C>T (p.Tyr159=)
|
rs863224281
|
0.00003
|
NM_000059.4(BRCA2):c.7632C>T (p.Gly2544=)
|
rs551834979
|
0.00003
|
NM_000159.4(GCDH):c.396G>T (p.Arg132=)
|
rs1160521098
|
0.00003
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
NM_000414.4(HSD17B4):c.112+15T>G
|
rs763381588
|
0.00003
|
NM_002617.4(PEX10):c.435G>A (p.Met145Ile)
|
rs368273118
|
0.00003
|
NM_003705.5(SLC25A12):c.1386G>A (p.Thr462=)
|
rs777556606
|
0.00003
|
NM_004130.4(GYG1):c.319-15C>T
|
rs146500395
|
0.00003
|
NM_007294.4(BRCA1):c.3822A>C (p.Val1274=)
|
rs372396487
|
0.00003
|
NM_213595.4(ISCU):c.46C>T (p.Leu16=)
|
rs779184027
|
0.00003
|
NM_000249.4(MLH1):c.1558+22C>T
|
rs863225374
|
0.00002
|
NM_000546.6(TP53):c.18A>C (p.Ser6=)
|
rs573130482
|
0.00002
|
NM_001271696.3(ABCB7):c.1161C>T (p.Val387=)
|
rs756266541
|
0.00002
|
NM_003172.4(SURF1):c.834-5C>T
|
rs370520197
|
0.00002
|
NM_004208.4(AIFM1):c.1719C>G (p.Val573=)
|
rs771940618
|
0.00002
|
NM_004655.4(AXIN2):c.135C>T (p.Val45=)
|
rs376726966
|
0.00002
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
NM_021957.4(GYS2):c.2100A>G (p.Glu700=)
|
rs753004525
|
0.00002
|
NM_000027.4(AGA):c.698+27C>T
|
rs756597510
|
0.00001
|
NM_000038.6(APC):c.1310C>G (p.Pro437Arg)
|
rs762936223
|
0.00001
|
NM_000038.6(APC):c.136-18T>C
|
rs1261769588
|
0.00001
|
NM_000038.6(APC):c.1629T>C (p.Val543=)
|
rs779848042
|
0.00001
|
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu)
|
rs149828124
|
0.00001
|
NM_000038.6(APC):c.5952T>C (p.Asn1984=)
|
rs142019870
|
0.00001
|
NM_000059.4(BRCA2):c.4725C>T (p.Asp1575=)
|
rs752402938
|
0.00001
|
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)
|
rs80358967
|
0.00001
|
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=)
|
rs776992904
|
0.00001
|
NM_000179.3(MSH6):c.3396T>A (p.Val1132=)
|
rs1026907245
|
0.00001
|
NM_000199.5(SGSH):c.606C>T (p.Ser202=)
|
rs544509805
|
0.00001
|
NM_000251.3(MSH2):c.804A>G (p.Ser268=)
|
rs876658954
|
0.00001
|
NM_000293.3(PHKB):c.1971+29A>G
|
rs974712790
|
0.00001
|
NM_000414.4(HSD17B4):c.1107T>C (p.Ser369=)
|
rs1485011447
|
0.00001
|
NM_000414.4(HSD17B4):c.1210-11C>G
|
rs779466683
|
0.00001
|
NM_000487.6(ARSA):c.618C>T (p.Phe206=)
|
rs370296376
|
0.00001
|
NM_000546.6(TP53):c.769C>T (p.Leu257=)
|
rs779761818
|
0.00001
|
NM_000546.6(TP53):c.891C>T (p.His297=)
|
rs750578863
|
0.00001
|
NM_001040108.2(MLH3):c.3716-10C>T
|
rs374204567
|
0.00001
|
NM_001040716.2(PC):c.2706C>T (p.Gly902=)
|
rs73489729
|
0.00001
|
NM_001303.4(COX10):c.561C>T (p.Pro187=)
|
rs371712806
|
0.00001
|
NM_001610.4(ACP2):c.451-29G>A
|
rs375804831
|
0.00001
|
NM_001953.5(TYMP):c.357G>C (p.Gly119=)
|
rs759788267
|
0.00001
|
NM_004329.3(BMPR1A):c.676-5T>C
|
rs200537780
|
0.00001
|
NM_004655.4(AXIN2):c.1962C>A (p.Gly654=)
|
rs377642903
|
0.00001
|
NM_005359.6(SMAD4):c.693C>T (p.Gly231=)
|
rs765597059
|
0.00001
|
NM_006493.4(CLN5):c.173+30G>A
|
rs1373592431
|
0.00001
|
NM_016292.3(TRAP1):c.312C>T (p.Ser104=)
|
rs144716962
|
0.00001
|
NM_020686.6(ABAT):c.648G>A (p.Ala216=)
|
rs767550217
|
0.00001
|
NM_024120.5(NDUFAF5):c.213G>C (p.Leu71=)
|
rs753565445
|
0.00001
|
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=)
|
rs775742250
|
0.00001
|
NM_025150.5(TARS2):c.1618-5T>C
|
rs765812601
|
0.00001
|
NM_080916.3(DGUOK):c.492C>T (p.Ile164=)
|
rs148915942
|
0.00001
|
NM_153033.5(KCTD7):c.-24C>T
|
rs1554397227
|
0.00001
|
NM_182760.4(SUMF1):c.726-16G>T
|
rs999626972
|
0.00001
|
NM_000027.4(AGA):c.34G>T (p.Val12Leu)
|
rs74626221
|
|
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=)
|
rs199997983
|
|
NM_000033.4(ABCD1):c.1780+25A>G
|
rs782547918
|
|
NM_000036.3(AMPD1):c.63T>C (p.Ala21=)
|
rs151258843
|
|
NM_000038.6(APC):c.1408+27A>G
|
rs863225312
|
|
NM_000038.6(APC):c.220+28A>G
|
rs200746873
|
|
NM_000038.6(APC):c.3429T>C (p.Tyr1143=)
|
rs1554084999
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
NM_000038.6(APC):c.4761A>G (p.Ser1587=)
|
rs863224280
|
|
NM_000038.6(APC):c.777G>T (p.Arg259=)
|
rs147704593
|
|
NM_000059.4(BRCA2):c.1167G>T (p.Pro389=)
|
rs148607710
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
NM_000059.4(BRCA2):c.5574A>G (p.Thr1858=)
|
rs1555284278
|
|
NM_000059.4(BRCA2):c.7528C>T (p.Leu2510=)
|
rs1555286272
|
|
NM_000152.5(GAA):c.2190-29G>A
|
rs142573163
|
|
NM_000153.4(GALC):c.69G>T (p.Ser23=)
|
rs763851570
|
|
NM_000158.4(GBE1):c.1447-40dup
|
rs11376242
|
|
NM_000169.3(GLA):c.1290A>G (p.Ter430=)
|
rs1555984712
|
|
NM_000179.3(MSH6):c.2187C>A (p.Ala729=)
|
rs375610656
|
|
NM_000179.3(MSH6):c.2745C>G (p.Ala915=)
|
rs876658904
|
|
NM_000179.3(MSH6):c.2877C>T (p.Arg959=)
|
rs781734958
|
|
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=)
|
rs544518097
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+49_4001+50insCTAACTGACCTTAAGTTTCAA
|
rs863225419
|
|
NM_000181.4(GUSB):c.*23G>T
|
rs751073317
|
|
NM_000199.5(SGSH):c.88+23C>G
|
rs77032342
|
|
NM_000202.8(IDS):c.709-671dup
|
rs1196180401
|
|
NM_000203.5(IDUA):c.1230C>G (p.Thr410=)
|
rs115790973
|
|
NM_000203.5(IDUA):c.1479C>A (p.Pro493=)
|
rs370394527
|
|
NM_000203.5(IDUA):c.1479C>G (p.Pro493=)
|
rs370394527
|
|
NM_000203.5(IDUA):c.1524+25GGGCC[2]
|
rs572565537
|
|
NM_000249.4(MLH1):c.2091C>T (p.Leu697=)
|
rs536488280
|
|
NM_000251.3(MSH2):c.212-4dup
|
rs746333570
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.2131-21dup
|
rs11299077
|
|
NM_000271.5(NPC1):c.2604+15dup
|
rs746440359
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.956-7C>T
|
rs537484682
|
|
NM_000284.4(PDHA1):c.489C>T (p.Gly163=)
|
rs1555933962
|
|
NM_000288.4(PEX7):c.748-5del
|
rs563675060
|
|
NM_000291.4(PGK1):c.937-17dup
|
rs782576397
|
|
NM_000293.3(PHKB):c.710+31dup
|
rs201321914
|
|
NM_000308.4(CTSA):c.54G>C (p.Leu18=)
|
rs181943893
|
|
NM_000314.8(PTEN):c.*78T>G
|
rs1554826080
|
|
NM_000314.8(PTEN):c.-500GGC[4]
|
rs1237307954
|
|
NM_000314.8(PTEN):c.-534G>T
|
rs886047385
|
|
NM_000314.8(PTEN):c.-534_-533delinsTT
|
rs1554890129
|
|
NM_000314.8(PTEN):c.-838C>T
|
rs786201900
|
|
NM_000314.8(PTEN):c.209+7A>G
|
rs1554897284
|
|
NM_000314.8(PTEN):c.802-51_802-14del
|
rs557364463
|
|
NM_000404.4(GLB1):c.1143+28G>C
|
rs149712618
|
|
NM_000535.7(PMS2):c.-24C>G
|
rs748909615
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.24-12_24-11del
|
rs1554306636
|
|
NM_000543.5(SMPD1):c.132G>T (p.Ala44=)
|
rs1554933861
|
|
NM_000546.6(TP53):c.96+14T>C
|
rs757865517
|
|
NM_000546.6(TP53):c.96+25ACCTGGAGGGCTGGGG[3]
|
rs59758982
|
|
NM_000642.3(AGL):c.1155G>A (p.Lys385=)
|
rs28730701
|
|
NM_000642.3(AGL):c.4162-11G>A
|
rs184309460
|
|
NM_001010867.4(IBA57):c.192C>T (p.Pro64=)
|
rs988464666
|
|
NM_001011719.2(ARSH):c.396G>C (p.Pro132=)
|
rs61746890
|
|
NM_001040108.2(MLH3):c.3828-24del
|
rs761256304
|
|
NM_001040436.3(YARS2):c.930G>A (p.Pro310=)
|
rs147551647
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001080449.3(DNA2):c.1058-6del
|
rs201474338
|
|
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu)
|
rs73274785
|
|
NM_001126049.2(KLLN):c.-955G>T
|
rs587781128
|
|
NM_001354768.3(NRL):c.-27-15516_-27-15515inv
|
|
|
NM_001358921.2(COQ2):c.18C>G (p.Ala6=)
|
rs772719748
|
|
NM_001386393.1(PANK2):c.201C>T (p.Ala67=)
|
rs756936934
|
|
NM_001866.3(COX7B):c.*5C>A
|
rs781818697
|
|
NM_002076.4(GNS):c.253-10del
|
rs201654719
|
|
NM_002087.4(GRN):c.-14G>C
|
rs1237619973
|
|
NM_002087.4(GRN):c.828G>T (p.Ala276=)
|
rs761530797
|
|
NM_002294.3(LAMP2):c.-23_-16del
|
rs1556124290
|
|
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]
|
rs193922648
|
|
NM_002541.4(OGDH):c.39A>C (p.Pro13=)
|
rs34777281
|
|
NM_002618.4(PEX13):c.914-30A>G
|
rs1553425139
|
|
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.153G>A (p.Gln51=)
|
rs1453538834
|
|
NM_002693.3(POLG):c.159A>G (p.Gln53=)
|
rs587781118
|
|
NM_002693.3(POLG):c.856-17CTC[4]
|
rs200056162
|
|
NM_002863.5(PYGL):c.-31GCAGCCCGCCGC[1]
|
rs561479231
|
|
NM_002863.5(PYGL):c.1828-21G>A
|
rs75220125
|
|
NM_003321.5(TUFM):c.923-7G>A
|
rs200807950
|
|
NM_003705.5(SLC25A12):c.1172-10del
|
rs535710884
|
|
NM_003705.5(SLC25A12):c.1338A>C (p.Pro446=)
|
rs149278617
|
|
NM_003846.3(PEX11B):c.56+25T>G
|
rs1482449951
|
|
NM_003849.4(SUCLG1):c.98-13_98-11del
|
rs56733272
|
|
NM_003849.4(SUCLG1):c.98-14_98-11del
|
rs56733272
|
|
NM_003849.4(SUCLG1):c.98-17_98-11del
|
rs56733272
|
|
NM_003850.3(SUCLA2):c.-3_-2del
|
rs570547911
|
|
NM_004130.4(GYG1):c.319-19C>T
|
rs144099043
|
|
NM_004563.4(PCK2):c.1479C>T (p.Ile493=)
|
rs1555342382
|
|
NM_005566.4(LDHA):c.835-15del
|
rs35006409
|
|
NM_005566.4(LDHA):c.835-19_835-15dup
|
rs35006409
|
|
NM_005609.4(PYGM):c.1621-19del
|
rs571976523
|
|
NM_005670.4(EPM2A):c.302-17A>G
|
rs1286332017
|
|
NM_005726.6(TSFM):c.58-7C>T
|
rs1555204197
|
|
NM_007294.4(BRCA1):c.2523G>A (p.Arg841=)
|
rs773013395
|
|
NM_007294.4(BRCA1):c.4443A>C (p.Ala1481=)
|
rs1555582589
|
|
NM_012062.5(DNM1L):c.*21_*22delinsCT
|
rs34421401
|
|
NM_014236.4(GNPAT):c.569-11del
|
rs199905093
|
|
NM_014317.5(PDSS1):c.1027-33_1027-30delinsAATA
|
rs1554798939
|
|
NM_015294.6(TRIM37):c.2229A>G (p.Ser743=)
|
rs1555650856
|
|
NM_015294.6(TRIM37):c.810-13dup
|
rs367700401
|
|
NM_015340.4(LARS2):c.945G>A (p.Ser315=)
|
rs145135580
|
|
NM_015340.4(LARS2):c.945G>C (p.Ser315=)
|
rs145135580
|
|
NM_015713.5(RRM2B):c.*4dup (p.Ter352=)
|
rs1314882154
|
|
NM_015713.5(RRM2B):c.27G>A (p.Ala9=)
|
rs1432702866
|
|
NM_017827.4(SARS2):c.1539C>G (p.Gly513=)
|
rs749749393
|
|
NM_018006.5(TRMU):c.60C>A (p.Ala20=)
|
rs1188059840
|
|
NM_018109.3(MTPAP):c.-5del
|
rs749648774
|
|
NM_018122.5(DARS2):c.1192-28C>A
|
rs768250843
|
|
NM_018122.5(DARS2):c.128-6_128-5del
|
rs746151025
|
|
NM_018238.4(AGK):c.424-5C>T
|
rs113599212
|
|
NM_020533.3(MCOLN1):c.1011G>A (p.Gln337=)
|
rs1164919725
|
|
NM_020686.6(ABAT):c.1326C>T (p.Phe442=)
|
rs201566019
|
|
NM_022089.4(ATP13A2):c.1354-24C>T
|
rs146588989
|
|
NM_022089.4(ATP13A2):c.706-13G>T
|
rs374468183
|
|
NM_024312.5(GNPTAB):c.1613-34dup
|
rs546802775
|
|
NM_024884.3(L2HGDH):c.336A>G (p.Leu112=)
|
rs59390116
|
|
NM_024996.7(GFM1):c.193C>A (p.Arg65=)
|
rs62286651
|
|
NM_032520.5(GNPTG):c.179-28C>G
|
rs746507546
|
|
NM_032520.5(GNPTG):c.204G>C (p.Ser68=)
|
rs777517766
|
|
NM_130837.3(OPA1):c.1407A>C (p.Thr469=)
|
rs1553877924
|
|
NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp)
|
rs199599204
|
|
NM_139242.4(MTFMT):c.646-6_646-5del
|
rs372515409
|
|
NM_152416.4(NDUFAF6):c.51C>A (p.Ile17=)
|
rs113557846
|
|
NM_153033.5(KCTD7):c.405G>C (p.Gly135=)
|
rs555039386
|
|
NM_153033.5(KCTD7):c.493+22T>A
|
rs1554300882
|
|
NM_182760.4(SUMF1):c.*10_*11delinsGT
|
rs71623163
|
|
NM_198834.3(ACACA):c.4777-8dup
|
rs149182938
|
|
NM_198834.3(ACACA):c.999T>C (p.Asp333=)
|
rs1419961791
|
|