NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp)
|
rs113964173
|
0.00462
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe)
|
rs146698690
|
0.00271
|
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro)
|
rs199742668
|
0.00240
|
NM_005006.7(NDUFS1):c.-5+236T>C
|
rs184505364
|
0.00195
|
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)
|
rs75442795
|
0.00172
|
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)
|
rs3212977
|
0.00150
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe)
|
rs145496449
|
0.00143
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_198129.4(LAMA3):c.1283G>C (p.Cys428Ser)
|
rs180795245
|
0.00092
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)
|
rs145360423
|
0.00054
|
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)
|
rs144575803
|
0.00050
|
NM_000494.4(COL17A1):c.1013T>C (p.Leu338Ser)
|
rs61731630
|
0.00046
|
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu)
|
rs145740834
|
0.00045
|
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)
|
rs74315298
|
0.00039
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu)
|
rs143194967
|
0.00031
|
NM_003721.4(RFXANK):c.188-11C>T
|
rs201545133
|
0.00029
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)
|
rs143899993
|
0.00026
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00023
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys)
|
rs376935647
|
0.00018
|
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)
|
rs28936700
|
0.00017
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met)
|
rs180716474
|
0.00016
|
NM_001382347.1(MYO5A):c.3098T>G (p.Leu1033Trp)
|
rs751411629
|
0.00016
|
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys)
|
rs148089728
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg)
|
rs374754187
|
0.00016
|
NM_032229.3(SLITRK6):c.1904G>A (p.Arg635His)
|
rs79624852
|
0.00015
|
NM_000666.3(ACY1):c.575dup (p.Ser192fs)
|
rs770702363
|
0.00014
|
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys)
|
rs200534908
|
0.00014
|
NM_017668.3(NDE1):c.214C>T (p.Arg72Cys)
|
rs777008106
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_000093.5(COL5A1):c.2700+191C>T
|
rs183885286
|
0.00011
|
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp)
|
rs200865845
|
0.00011
|
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter)
|
rs149459910
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_001162383.2(ARHGEF2):c.382G>A (p.Asp128Asn)
|
rs1370253003
|
0.00010
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_016327.3(UPB1):c.105-2A>G
|
rs138081800
|
0.00010
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly)
|
rs138866758
|
0.00009
|
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys)
|
rs372035044
|
0.00009
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)
|
rs121908003
|
0.00008
|
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met)
|
rs1127511
|
0.00008
|
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)
|
rs142375551
|
0.00008
|
NM_000265.7(NCF1):c.124C>T (p.Arg42Trp)
|
rs782800778
|
0.00007
|
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)
|
rs770199817
|
0.00007
|
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys)
|
rs141210410
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
|
rs121918548
|
0.00007
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_001205293.3(CACNA1E):c.6856C>T (p.Arg2286Trp)
|
rs762766720
|
0.00006
|
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)
|
rs111033609
|
0.00006
|
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)
|
rs775162839
|
0.00006
|
NM_004523.4(KIF11):c.980G>A (p.Arg327His)
|
rs746977730
|
0.00006
|
NM_005535.3(IL12RB1):c.1791+2T>G
|
rs554063682
|
0.00006
|
NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn)
|
rs140985565
|
0.00006
|
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)
|
rs141310608
|
0.00006
|
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val)
|
rs199956627
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_000218.3(KCNQ1):c.1514+3290A>G
|
rs1048449968
|
0.00005
|
NM_001330574.2(ZNF711):c.326G>C (p.Gly109Ala)
|
rs769223012
|
0.00005
|
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly)
|
rs140059558
|
0.00005
|
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg)
|
rs34575645
|
0.00005
|
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala)
|
rs767982852
|
0.00005
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00005
|
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)
|
rs776814144
|
0.00004
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu)
|
rs782426283
|
0.00004
|
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser)
|
rs63751279
|
0.00004
|
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)
|
rs200090033
|
0.00004
|
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)
|
rs138125282
|
0.00004
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter)
|
rs201045495
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_004446.3(EPRS1):c.2513G>A (p.Arg838His)
|
rs542576870
|
0.00004
|
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter)
|
rs72553885
|
0.00004
|
NM_022124.6(CDH23):c.1450-10G>A
|
rs751220612
|
0.00004
|
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer)
|
rs587783735
|
0.00004
|
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
NM_032040.5(CCDC8):c.963del (p.Ala323fs)
|
rs746873023
|
0.00004
|
NM_138272.3(MPIG6B):c.248G>A (p.Arg83His)
|
rs200855070
|
0.00004
|
NM_172369.5(C1QC):c.490G>A (p.Gly164Ser)
|
rs752596663
|
0.00004
|
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn)
|
rs606231276
|
0.00004
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000308.4(CTSA):c.601-2A>G
|
rs778159802
|
0.00003
|
NM_000501.4(ELN):c.1357G>A (p.Gly453Arg)
|
rs781802762
|
0.00003
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_001009944.3(PKD1):c.12391G>T (p.Glu4131Ter)
|
rs764447736
|
0.00003
|
NM_001014342.3(FLG2):c.632C>G (p.Ser211Ter)
|
rs1050823116
|
0.00003
|
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His)
|
rs376019368
|
0.00003
|
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys)
|
rs372337277
|
0.00003
|
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser)
|
rs368513591
|
0.00003
|
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr)
|
rs150563256
|
0.00003
|
NM_001365999.1(SZT2):c.2929+15C>T
|
rs1030508390
|
0.00003
|
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn)
|
rs533310477
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser)
|
rs749985011
|
0.00003
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_015836.4(WARS2):c.317C>T (p.Pro106Leu)
|
rs753188889
|
0.00003
|
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)
|
rs121918129
|
0.00003
|
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp)
|
rs121908321
|
0.00003
|
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)
|
rs587776954
|
0.00003
|
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr)
|
rs572278771
|
0.00003
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
NM_000208.4(INSR):c.3529+5G>A
|
rs764083259
|
0.00002
|
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)
|
rs199472737
|
0.00002
|
NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln)
|
rs146778113
|
0.00002
|
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter)
|
rs747602915
|
0.00002
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)
|
rs753508874
|
0.00002
|
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)
|
rs113994028
|
0.00002
|
NM_001194998.2(CEP152):c.2148-17G>A
|
rs751691427
|
0.00002
|
NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln)
|
rs542660333
|
0.00002
|
NM_001298.3(CNGA3):c.830G>A (p.Arg277His)
|
rs778114016
|
0.00002
|
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)
|
rs775651976
|
0.00002
|
NM_004174.4(SLC9A3):c.932+1G>A
|
rs144524702
|
0.00002
|
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter)
|
rs730882240
|
0.00002
|
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys)
|
rs112817175
|
0.00002
|
NM_004595.5(SMS):c.799G>A (p.Gly267Arg)
|
rs757074790
|
0.00002
|
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp)
|
rs781491587
|
0.00002
|
NM_017909.4(RMND1):c.920A>G (p.Asn307Ser)
|
rs746632175
|
0.00002
|
NM_017950.4(CCDC40):c.2832+360C>T
|
rs1567813319
|
0.00002
|
NM_018943.3(TUBA8):c.728G>A (p.Arg243His)
|
rs768178362
|
0.00002
|
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)
|
rs387907236
|
0.00002
|
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)
|
rs753966933
|
0.00002
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000108.5(DLD):c.684+1G>T
|
rs780025714
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000178.4(GSS):c.656A>G (p.Asp219Gly)
|
rs28938472
|
0.00001
|
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)
|
rs786205673
|
0.00001
|
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)
|
rs121917780
|
0.00001
|
NM_000260.4(MYO7A):c.470+1G>A
|
rs797044510
|
0.00001
|
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr)
|
rs137852534
|
0.00001
|
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)
|
rs767831048
|
0.00001
|
NM_000352.6(ABCC8):c.1882G>A (p.Glu628Lys)
|
rs565662182
|
0.00001
|
NM_000384.3(APOB):c.13059C>A (p.Cys4353Ter)
|
rs935792706
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys)
|
rs1327401976
|
0.00001
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys)
|
rs758630897
|
0.00001
|
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)
|
rs775685508
|
0.00001
|
NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe)
|
rs994299183
|
0.00001
|
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)
|
rs199422117
|
0.00001
|
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp)
|
rs752858869
|
0.00001
|
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter)
|
rs777327250
|
0.00001
|
NM_001267550.2(TTN):c.32471-1G>A
|
rs371725574
|
0.00001
|
NM_001267550.2(TTN):c.43033C>T (p.Pro14345Ser)
|
rs1576701632
|
0.00001
|
NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile)
|
rs1354476372
|
0.00001
|
NM_001290003.1(THPO):c.98C>T (p.Pro33Leu)
|
rs1208732776
|
0.00001
|
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys)
|
rs763041373
|
0.00001
|
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)
|
rs761622153
|
0.00001
|
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter)
|
rs200659479
|
0.00001
|
NM_001379286.1(ZNF423):c.3274G>A (p.Val1092Ile)
|
rs759221881
|
0.00001
|
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys)
|
rs762796464
|
0.00001
|
NM_001457.4(FLNB):c.871G>A (p.Val291Met)
|
rs751747906
|
0.00001
|
NM_001807.6(CEL):c.703C>T (p.Arg235Ter)
|
rs778611627
|
0.00001
|
NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe)
|
rs1877889898
|
0.00001
|
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg)
|
rs757047420
|
0.00001
|
NM_001985.3(ETFB):c.58-57C>T
|
rs766066977
|
0.00001
|
NM_002168.4(IDH2):c.1039G>A (p.Ala347Thr)
|
rs767061831
|
0.00001
|
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)
|
rs199839840
|
0.00001
|
NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser)
|
rs143337739
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
NM_003235.5(TG):c.6725G>A (p.Arg2242His)
|
rs2069566
|
0.00001
|
NM_003356.4(UCP3):c.365C>T (p.Ala122Val)
|
rs773117397
|
0.00001
|
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)
|
rs587784350
|
0.00001
|
NM_003764.4(STX11):c.173T>C (p.Leu58Pro)
|
rs431905512
|
0.00001
|
NM_004064.5(CDKN1B):c.274C>T (p.Pro92Ser)
|
rs868695692
|
0.00001
|
NM_004092.4(ECHS1):c.88+5G>A
|
rs761464256
|
0.00001
|
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)
|
rs767643821
|
0.00001
|
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr)
|
rs540817676
|
0.00001
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
NM_005149.3(TBX19):c.377C>T (p.Pro126Leu)
|
rs753455443
|
0.00001
|
NM_005149.3(TBX19):c.608C>T (p.Thr203Met)
|
rs748717639
|
0.00001
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
NM_005529.7(HSPG2):c.11671+1G>T
|
rs1373848573
|
0.00001
|
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys)
|
rs1333091798
|
0.00001
|
NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter)
|
rs1297603674
|
0.00001
|
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)
|
rs748571395
|
0.00001
|
NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter)
|
rs1131691593
|
0.00001
|
NM_006348.5(COG5):c.1535C>G (p.Ala512Gly)
|
rs1037950511
|
0.00001
|
NM_006612.6(KIF1C):c.646C>T (p.Arg216Cys)
|
rs1064796693
|
0.00001
|
NM_006929.5(SKIC2):c.1297C>T (p.Arg433Cys)
|
rs750250320
|
0.00001
|
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu)
|
rs121918540
|
0.00001
|
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser)
|
rs750972972
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)
|
rs766629205
|
0.00001
|
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)
|
rs764260054
|
0.00001
|
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu)
|
rs1037774698
|
0.00001
|
NM_013382.7(POMT2):c.311A>T (p.Asp104Val)
|
rs1891449262
|
0.00001
|
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys)
|
rs1114167292
|
0.00001
|
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter)
|
rs1023630527
|
0.00001
|
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)
|
rs768019897
|
0.00001
|
NM_016239.4(MYO15A):c.4429C>T (p.Arg1477Cys)
|
rs774077101
|
0.00001
|
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)
|
rs1304109530
|
0.00001
|
NM_016553.5(NUP62):c.548C>T (p.Thr183Met)
|
rs756420654
|
0.00001
|
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter)
|
rs754867753
|
0.00001
|
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter)
|
rs587783275
|
0.00001
|
NM_021008.4(DEAF1):c.776C>T (p.Ala259Val)
|
rs1564949612
|
0.00001
|
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter)
|
rs587777626
|
0.00001
|
NM_024101.7(MLPH):c.104G>A (p.Arg35Gln)
|
rs786205551
|
0.00001
|
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter)
|
rs777438557
|
0.00001
|
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu)
|
rs764053964
|
0.00001
|
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)
|
rs774005569
|
0.00001
|
NM_031421.5(ODAD4):c.158G>A (p.Arg53His)
|
rs782594989
|
0.00001
|
NM_032551.5(KISS1R):c.439C>T (p.Pro147Ser)
|
rs61735615
|
0.00001
|
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)
|
rs730882213
|
0.00001
|
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)
|
rs1295732689
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_153033.5(KCTD7):c.551G>A (p.Arg184His)
|
rs747676224
|
0.00001
|
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp)
|
rs548129734
|
0.00001
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
0.00001
|
NM_181776.3(SLC36A2):c.448G>A (p.Val150Met)
|
rs766388628
|
0.00001
|
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)
|
rs111033349
|
0.00001
|
NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr)
|
rs1326810030
|
0.00001
|
NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys)
|
rs1229969030
|
0.00001
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)
|
rs1597534120
|
|
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
|
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser)
|
rs398123088
|
|
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
|
rs727503788
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs)
|
rs1591363795
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)
|
rs1249398093
|
|
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)
|
rs765711776
|
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)
|
rs1593726081
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs)
|
rs1593903422
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter)
|
rs867425110
|
|
NM_000067.3(CA2):c.232+1G>A
|
rs573750741
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
NM_000081.4(LYST):c.3170del (p.Lys1057fs)
|
|
|
NM_000089.4(COL1A2):c.432+4_432+7del
|
rs72656363
|
|
NM_000094.4(COL7A1):c.6026G>A (p.Gly2009Glu)
|
rs1342925232
|
|
NM_000095.3(COMP):c.361_364dup (p.Gly122fs)
|
rs1601059597
|
|
NM_000098.3(CPT2):c.416C>T (p.Pro139Leu)
|
rs369475478
|
|
NM_000104.4(CYP1B1):c.975_978del (p.Asp326fs)
|
rs1573274915
|
|
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter)
|
rs121913032
|
|
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)
|
rs2068606445
|
|
NM_000123.4(ERCC5):c.2427del (p.Asp809fs)
|
rs777455688
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter)
|
rs1475984278
|
|
NM_000127.3(EXT1):c.1469del (p.Leu490fs)
|
rs886039356
|
|
NM_000132.4(F8):c.2044G>T (p.Val682Phe)
|
rs1569559755
|
|
NM_000133.4(F9):c.855G>C (p.Glu285Asp)
|
rs1603267310
|
|
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe)
|
rs794728193
|
|
NM_000138.5(FBN1):c.5917+1G>T
|
rs363808
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr)
|
rs1598577393
|
|
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
|
rs1221156663
|
|
NM_000153.4(GALC):c.1886G>T (p.Trp629Leu)
|
rs1566967736
|
|
NM_000155.4(GALT):c.650T>C (p.Leu217Pro)
|
rs111033741
|
|
NM_000158.4(GBE1):c.998A>T (p.Glu333Val)
|
rs1553684545
|
|
NM_000159.4(GCDH):c.1167G>A (p.Leu389=)
|
rs398123191
|
|
NM_000168.6(GLI3):c.1527G>C (p.Glu509Asp)
|
rs1583749201
|
|
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp)
|
rs1587908683
|
|
NM_000174.5(GP9):c.404G>T (p.Cys135Phe)
|
rs769561588
|
|
NM_000180.4(GUCY2D):c.2978del (p.Met993fs)
|
rs1598151437
|
|
NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val)
|
rs1309642469
|
|
NM_000212.3(ITGB3):c.727G>C (p.Asp243His)
|
rs1598690937
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000218.3(KCNQ1):c.586A>C (p.Lys196Gln)
|
rs1589956747
|
|
NM_000222.3(KIT):c.2872A>G (p.Asn958Asp)
|
rs1560426461
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
NM_000251.3(MSH2):c.619G>T (p.Ala207Ser)
|
rs63750913
|
|
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys)
|
rs796052005
|
|
NM_000255.4(MMUT):c.785G>T (p.Ser262Ile)
|
rs1767683356
|
|
NM_000257.4(MYH7):c.1858_1859del (p.Leu620fs)
|
rs1566533919
|
|
NM_000257.4(MYH7):c.4622A>T (p.Gln1541Leu)
|
rs587779389
|
|
NM_000260.4(MYO7A):c.133del
|
rs1591224147
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000271.5(NPC1):c.2130+1G>A
|
rs2058753286
|
|
NM_000275.2(OCA2):c.646+1823_807+678delinsAAA
|
rs1555375711
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu)
|
rs1602226867
|
|
NM_000297.4(PKD2):c.111_117delinsGG (p.Ser39fs)
|
rs1726227364
|
|
NM_000297.4(PKD2):c.481_502del (p.Gly161fs)
|
rs1553923513
|
|
NM_000312.4(PROC):c.1163C>T (p.Ala388Val)
|
rs769277939
|
|
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser)
|
rs876660634
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000316.3(PTH1R):c.611T>A (p.Val204Glu)
|
rs769180471
|
|
NM_000330.4(RS1):c.215A>G (p.Glu72Gly)
|
rs1927823799
|
|
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)
|
rs121912691
|
|
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)
|
rs888909415
|
|
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter)
|
rs121909792
|
|
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs)
|
rs886041124
|
|
NM_000383.4(AIRE):c.44G>A (p.Arg15His)
|
rs179363876
|
|
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)
|
rs786205465
|
|
NM_000404.4(GLB1):c.950G>A (p.Trp317Ter)
|
rs1575451526
|
|
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu)
|
rs730882196
|
|
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)
|
rs766503255
|
|
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)
|
rs746844753
|
|
NM_000426.4(LAMA2):c.2054T>C (p.Leu685Pro)
|
rs746641607
|
|
NM_000426.4(LAMA2):c.3924+2T>C
|
rs1554269966
|
|
NM_000428.3(LTBP2):c.1934T>C (p.Leu645Pro)
|
rs1566626728
|
|
NM_000436.4(OXCT1):c.370C>T (p.Arg124Ter)
|
rs1579884900
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)
|
rs752916287
|
|
NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile)
|
rs1585617108
|
|
NM_000486.6(AQP2):c.526-1G>T
|
rs749468605
|
|
NM_000487.6(ARSA):c.1108-2A>G
|
rs398123411
|
|
NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile)
|
rs1569538665
|
|
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser)
|
rs1177201180
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly)
|
rs111033546
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000512.5(GALNS):c.423-862C>T
|
rs1597575641
|
|
NM_000517.6(HBA2):c.*94A>G
|
rs63751269
|
|
NM_000521.4(HEXB):c.1169+3_1169+10del
|
rs398123444
|
|
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter)
|
rs1554034434
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
NM_000527.5(LDLR):c.2027del (p.Gly676fs)
|
rs875989937
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000529.2(MC2R):c.459dup (p.Ile154fs)
|
rs1555619430
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
NM_000535.7(PMS2):c.1145-31_1145-13del
|
rs751973268
|
|
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)
|
rs587780724
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000546.6(TP53):c.273G>A (p.Trp91Ter)
|
rs876660548
|
|
NM_000551.4(VHL):c.508G>C (p.Val170Leu)
|
rs1553620326
|
|
NM_000552.5(VWF):c.5520dup (p.Gly1841fs)
|
rs1591858979
|
|
NM_000553.6(WRN):c.1822C>T (p.Gln608Ter)
|
rs1813725009
|
|
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg)
|
rs1592380743
|
|
NM_000642.3(AGL):c.113C>G (p.Thr38Ser)
|
rs1557746521
|
|
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)
|
rs398123498
|
|
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)
|
rs398123509
|
|
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)
|
rs780950819
|
|
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu)
|
rs1057520815
|
|
NM_000815.5(GABRD):c.470+1G>C
|
rs1557445669
|
|
NM_000817.3(GAD1):c.1402T>G (p.Trp468Gly)
|
rs1575446166
|
|
NM_000834.5(GRIN2B):c.1287C>A (p.Cys429Ter)
|
rs747172511
|
|
NM_000834.5(GRIN2B):c.1820G>C (p.Trp607Ser)
|
rs1591638805
|
|
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn)
|
rs1591609136
|
|
NM_000875.5(IGF1R):c.2741G>A (p.Gly914Glu)
|
rs1596457264
|
|
NM_000965.5(RARB):c.1180G>T (p.Glu394Ter)
|
rs1575553528
|
|
NM_000975.5(RPL11):c.465_466del (p.His155fs)
|
rs1644530053
|
|
NM_001003787.4(STRADA):c.1101-1G>C
|
rs1598144913
|
|
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)
|
rs1167476946
|
|
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser)
|
rs1596582702
|
|
NM_001009944.3(PKD1):c.7063A>C (p.Thr2355Pro)
|
rs2092400099
|
|
NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg)
|
rs1367567191
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1])
|
rs763199524
|
|
NM_001010874.5(TECRL):c.331+1G>A
|
rs1057517699
|
|
NM_001012759.3(CTU2):c.873+5G>A
|
rs1597431437
|
|
NM_001017420.3(ESCO2):c.116dup (p.Asn39fs)
|
rs1585389705
|
|
NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe)
|
rs1581259156
|
|
NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr)
|
rs1582095105
|
|
NM_001029883.3(PCARE):c.1541del (p.Pro514fs)
|
rs1667513233
|
|
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly)
|
rs587777067
|
|
NM_001031725.6(DDX59):c.1648AAT[2] (p.Asn552del)
|
rs1571603072
|
|
NM_001032386.2(SUOX):c.520del (p.Asp174fs)
|
rs1565798380
|
|
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)
|
rs137852739
|
|
NM_001035256.2(POMC):c.297_298ins90 (p.?)
|
|
|
NM_001037.5(SCN1B):c.449-2A>G
|
rs1600370558
|
|
NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro)
|
rs773013563
|
|
NM_001039591.3(USP9X):c.2663T>G (p.Phe888Cys)
|
rs1174582313
|
|
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His)
|
rs1553579488
|
|
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter)
|
rs1596891223
|
|
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)
|
rs886041347
|
|
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs)
|
rs1597716817
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs)
|
rs1599879104
|
|
NM_001042646.3(TRAK1):c.1759dup (p.His587fs)
|
rs1559390743
|
|
NM_001069.3(TUBB2A):c.1178C>T (p.Ala393Val)
|
rs1581496351
|
|
NM_001077365.2(POMT1):c.1175+4_1175+7del
|
rs1588409344
|
|
NM_001077418.3(TMEM231):c.526C>G (p.Leu176Val)
|
rs775613602
|
|
NM_001079520.2(DACT1):c.868_869del (p.Trp290fs)
|
rs1555329832
|
|
NM_001079668.3(NKX2-1):c.583C>T (p.Arg195Trp)
|
rs1881114341
|
|
NM_001080467.3(MYO5B):c.1829C>A (p.Ser610Ter)
|
rs753160864
|
|
NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter)
|
rs762039116
|
|
NM_001080517.3(SETD5):c.1452dup (p.Pro485fs)
|
rs1575453353
|
|
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile)
|
rs1569441509
|
|
NM_001082538.3(TCTN1):c.342-2A>G
|
rs730882221
|
|
NM_001082971.2(DDC):c.571-3C>G
|
rs779659084
|
|
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter)
|
rs727504175
|
|
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter)
|
rs1591672193
|
|
NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter)
|
rs2093650935
|
|
NM_001098.3(ACO2):c.1285C>T (p.Arg429Trp)
|
rs757438868
|
|
NM_001098511.3(KIF2A):c.283C>T (p.Arg95Ter)
|
rs1580059038
|
|
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)
|
rs121909529
|
|
NM_001101.5(ACTB):c.209C>A (p.Pro70His)
|
rs587779769
|
|
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys)
|
rs1472549168
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)
|
rs121912678
|
|
NM_001123385.2(BCOR):c.2449del (p.Thr817fs)
|
rs1602148660
|
|
NM_001127644.2(GABRA1):c.1268C>T (p.Ser423Leu)
|
rs1581221893
|
|
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His)
|
rs863225436
|
|
NM_001134407.3(GRIN2A):c.2007+1del
|
rs1596471698
|
|
NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys)
|
rs1578557666
|
|
NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys)
|
rs1598176834
|
|
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn)
|
rs1977170764
|
|
NM_001160148.2(DDHD1):c.2444G>A (p.Arg815Lys)
|
rs147133475
|
|
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu)
|
rs1357591960
|
|
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs)
|
rs1566212378
|
|
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs)
|
rs1592109970
|
|
NM_001164277.2(SLC37A4):c.985+1G>A
|
rs1943553565
|
|
NM_001165963.4(SCN1A):c.657A>C (p.Arg219Ser)
|
rs727504143
|
|
NM_001170535.3(ATAD3A):c.283-60del
|
rs1557458134
|
|
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe)
|
rs1574568704
|
|
NM_001174089.2(SLC4A11):c.2018+1G>A
|
rs2067654837
|
|
NM_001190274.2(FBXO11):c.1920+2T>A
|
rs1572776344
|
|
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)
|
rs764333096
|
|
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp)
|
rs1388811021
|
|
NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter)
|
rs1744312712
|
|
NM_001205254.2(OCLN):c.546G>C (p.Leu182=)
|
rs1580554633
|
|
NM_001206999.2(CIT):c.3350+5G>A
|
rs1565958864
|
|
NM_001206999.2(CIT):c.4354A>C (p.Thr1452Pro)
|
rs1593442207
|
|
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro)
|
rs180177442
|
|
NM_001256317.3(TMPRSS3):c.1192-1G>C
|
rs1601514990
|
|
NM_001257096.2(PAX1):c.1181C>T (p.Pro394Leu)
|
rs767129610
|
|
NM_001267550.2(TTN):c.106375-2A>G
|
rs1553482872
|
|
NM_001267550.2(TTN):c.28174+1G>T
|
rs1577824925
|
|
NM_001267550.2(TTN):c.28462+1G>T
|
rs2076520917
|
|
NM_001267550.2(TTN):c.55732+5G>C
|
rs878854377
|
|
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)
|
rs747536886
|
|
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs)
|
rs1601419986
|
|
NM_001282531.3(ADNP):c.1265dup (p.Gln423fs)
|
rs1600932676
|
|
NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer)
|
rs1600930164
|
|
NM_001286577.2(C2CD3):c.195G>C (p.Trp65Cys)
|
rs1590991247
|
|
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)
|
rs1275489527
|
|
NM_001318852.2(MAPK8IP3):c.3668A>G (p.Tyr1223Cys)
|
rs1596818779
|
|
NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr)
|
rs1603251548
|
|
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs)
|
rs886039809
|
|
NM_001348768.2(HECW2):c.4550G>A (p.Ser1517Asn)
|
rs1353654549
|
|
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)
|
rs61752138
|
|
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)
|
rs1556401714
|
|
NM_001354930.2(RIPK1):c.954del (p.Met318fs)
|
rs1561772403
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)
|
rs1578999313
|
|
NM_001364905.1(LRBA):c.7850-1G>A
|
rs1729842757
|
|
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs)
|
rs1569288603
|
|
NM_001369.3(DNAH5):c.11028+2T>C
|
rs773447251
|
|
NM_001369268.1(ACAN):c.5546G>A (p.Gly1849Asp)
|
rs34124958
|
|
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)
|
rs1050035768
|
|
NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs)
|
rs1561540623
|
|
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter)
|
rs1571242220
|
|
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter)
|
rs1289499829
|
|
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)
|
rs1554265316
|
|
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs)
|
rs1583451146
|
|
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)
|
rs1554234402
|
|
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs)
|
rs1583502875
|
|
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter)
|
rs1451259945
|
|
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)
|
rs797045283
|
|
NM_001375380.1(EBF3):c.412-2A>T
|
rs1859264278
|
|
NM_001375380.1(EBF3):c.428G>A (p.Gly143Asp)
|
rs1589962586
|
|
NM_001376.5(DYNC1H1):c.11765C>G (p.Pro3922Arg)
|
rs141696238
|
|
NM_001377299.1(NDUFS2):c.703-11T>G
|
rs770054202
|
|
NM_001378183.1(PIEZO2):c.4244_4245del (p.Thr1415fs)
|
rs1598431052
|
|
NM_001378183.1(PIEZO2):c.6055C>T (p.Arg2019Ter)
|
rs764171255
|
|
NM_001378454.1(ALMS1):c.2728_2731del (p.His910fs)
|
rs1558648189
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378778.1(MPDZ):c.1502dup (p.Leu501fs)
|
rs1956840371
|
|
NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr)
|
rs1554644827
|
|
NM_001378778.1(MPDZ):c.628C>T (p.Gln210Ter)
|
rs372127610
|
|
NM_001378789.1(CERS3):c.530C>T (p.Ser177Phe)
|
rs1178676096
|
|
NM_001379029.1(CERT1):c.1335del (p.Ala446fs)
|
rs1561223965
|
|
NM_001379500.1(COL18A1):c.3826_3827del (p.Trp1276fs)
|
rs1602667345
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro)
|
rs730882250
|
|
NM_001384125.1(BLTP1):c.1183del (p.Ile395fs)
|
rs1579165246
|
|
NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter)
|
rs1943286459
|
|
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)
|
rs863225159
|
|
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)
|
rs730882217
|
|
NM_001386298.1(CIC):c.7506dup (p.Pro2503fs)
|
rs1422380205
|
|
NM_001394062.1(MACF1):c.20105T>C (p.Leu6702Pro)
|
rs1570118657
|
|
NM_001510.4(GRID2):c.910C>T (p.Arg304Ter)
|
rs1579319300
|
|
NM_001625.4(AK2):c.545C>A (p.Ala182Asp)
|
rs559947967
|
|
NM_001626.6(AKT2):c.49G>A (p.Glu17Lys)
|
rs387906659
|
|
NM_001673.5(ASNS):c.1137+1G>A
|
rs1791383191
|
|
NM_001673.5(ASNS):c.1160A>G (p.Glu387Gly)
|
rs1584458744
|
|
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys)
|
rs1166271142
|
|
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter)
|
rs1569061768
|
|
NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly)
|
rs1597817636
|
|
NM_001807.6(CEL):c.1776dup (p.Val593fs)
|
rs193922638
|
|
NM_001844.5(COL2A1):c.1187G>A (p.Gly396Asp)
|
rs1592221192
|
|
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)
|
rs121912880
|
|
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser)
|
rs113994109
|
|
NM_001849.4(COL6A2):c.2422+1G>A
|
rs113828929
|
|
NM_001887.4(CRYBB1):c.171del (p.Asn58fs)
|
rs1064793935
|
|
NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile)
|
rs1553631770
|
|
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)
|
rs748294403
|
|
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter)
|
rs886041281
|
|
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)
|
rs765023287
|
|
NM_001955.5(EDN1):c.184G>C (p.Glu62Gln)
|
rs1561693994
|
|
NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu)
|
rs1592232580
|
|
NM_002055.5(GFAP):c.230A>G (p.Asn77Ser)
|
rs57590980
|
|
NM_002181.4(IHH):c.352G>A (p.Val118Met)
|
rs1454141074
|
|
NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla)
|
rs1574689480
|
|
NM_002187.3(IL12B):c.320dup (p.Glu108fs)
|
rs587776807
|
|
NM_002246.3(KCNK3):c.250_267dup (p.Phe84_Thr89dup)
|
rs1558592501
|
|
NM_002354.3(EPCAM):c.499dup (p.Gln167fs)
|
rs606231204
|
|
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro)
|
rs200938111
|
|
NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr)
|
rs1566012539
|
|
NM_002470.4(MYH3):c.4405dup (p.Glu1469fs)
|
rs1597482824
|
|
NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs)
|
rs1567692384
|
|
NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter)
|
rs879253889
|
|
NM_002547.3(OPHN1):c.1105-13_1109del
|
rs2077502210
|
|
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter)
|
rs387906726
|
|
NM_002641.4(PIGA):c.166C>G (p.Leu56Val)
|
rs1602212318
|
|
NM_002662.5(PLD1):c.498del (p.Ser167fs)
|
rs1719235551
|
|
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)
|
rs886041592
|
|
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser)
|
rs121918104
|
|
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002880.4(RAF1):c.659_660del (p.Ser220fs)
|
rs1575577384
|
|
NM_003038.5(SLC1A4):c.1357T>C (p.Trp453Arg)
|
rs1572971860
|
|
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)
|
rs794726860
|
|
NM_003051.4(SLC16A1):c.1079del (p.Ala360fs)
|
rs1570619302
|
|
NM_003060.4(SLC22A5):c.1313G>A (p.Gly438Glu)
|
rs1580894230
|
|
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr)
|
rs1820558146
|
|
NM_003126.4(SPTA1):c.1619C>A (p.Thr540Asn)
|
rs755070607
|
|
NM_003126.4(SPTA1):c.5263C>G (p.His1755Asp)
|
rs377659326
|
|
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)
|
rs1555354198
|
|
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)
|
rs767004810
|
|
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)
|
rs104893816
|
|
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)
|
rs201070350
|
|
NM_003394.4(WNT10B):c.338-1G>C
|
rs1163162816
|
|
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del)
|
rs587783704
|
|
NM_003483.6(HMGA2):c.283-2A>G
|
rs1592471112
|
|
NM_003506.4(FZD6):c.1393-2A>G
|
rs1815013208
|
|
NM_003611.3(OFD1):c.2193del (p.Arg732fs)
|
rs1602904530
|
|
NM_003632.3(CNTNAP1):c.1_1629-1del
|
|
|
NM_003718.5(CDK13):c.806del (p.Ser269fs)
|
rs1583893433
|
|
NM_003721.4(RFXANK):c.271+1G>C
|
rs759667201
|
|
NM_003721.4(RFXANK):c.271+1delinsTCAC
|
rs2060611603
|
|
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)
|
rs104894709
|
|
NM_003721.4(RFXANK):c.477C>A (p.Ser159Arg)
|
rs368281475
|
|
NM_003721.4(RFXANK):c.713-1G>A
|
rs2060720733
|
|
NM_003742.4(ABCB11):c.379del (p.Thr127fs)
|
rs1558927163
|
|
NM_003742.4(ABCB11):c.936G>T (p.Gln312His)
|
rs770497192
|
|
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)
|
rs367638648
|
|
NM_003978.5(PSTPIP1):c.355-4G>A
|
rs1596111331
|
|
NM_003995.4(NPR2):c.1032T>G (p.Tyr344Ter)
|
rs1588057922
|
|
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln)
|
rs771373457
|
|
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)
|
rs771373457
|
|
NM_003995.4(NPR2):c.3059G>A (p.Arg1020Gln)
|
rs770815149
|
|
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)
|
rs104894790
|
|
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu)
|
rs397514499
|
|
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His)
|
rs1569264240
|
|
NM_004214.5(FIBP):c.412-11C>G
|
rs1591078042
|
|
NM_004273.5(CHST3):c.503T>G (p.Ile168Ser)
|
rs1589509307
|
|
NM_004369.4(COL6A3):c.6257G>T (p.Gly2086Val)
|
rs1574976543
|
|
NM_004370.6(COL12A1):c.756dup (p.Ser253fs)
|
rs1582208315
|
|
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn)
|
rs895608889
|
|
NM_004415.4(DSP):c.979A>G (p.Asn327Asp)
|
rs794727915
|
|
NM_004423.4(DVL3):c.1715-1G>C
|
rs869025217
|
|
NM_004523.4(KIF11):c.895A>G (p.Ile299Val)
|
rs1844517913
|
|
NM_004553.6(NDUFS6):c.80G>A (p.Cys27Tyr)
|
rs1579936916
|
|
NM_004577.4(PSPH):c.340del (p.Ser114fs)
|
rs1788688718
|
|
NM_004628.5(XPC):c.1872+1G>C
|
rs1559374923
|
|
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)
|
rs759314410
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004713.6(NEMF):c.574+1G>T
|
rs1892998702
|
|
NM_004750.5(CRLF1):c.983dup (p.Ser328fs)
|
rs1555758035
|
|
NM_004793.4(LONP1):c.889G>A (p.Val297Met)
|
rs1599470758
|
|
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs)
|
rs886041948
|
|
NM_004836.7(EIF2AK3):c.1538del (p.Lys513fs)
|
rs1674719462
|
|
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs)
|
rs1588621944
|
|
NM_004974.4(KCNA2):c.1195G>A (p.Val399Met)
|
rs1064794738
|
|
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
|
|
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser)
|
rs1601071085
|
|
NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter)
|
rs1601070652
|
|
NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile)
|
rs1321888585
|
|
NM_005045.4(RELN):c.6314del (p.Phe2105fs)
|
rs1830269249
|
|
NM_005045.4(RELN):c.9841del (p.Ala3281fs)
|
rs1586472959
|
|
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val)
|
rs752600100
|
|
NM_005120.3(MED12):c.1561C>T (p.Arg521Cys)
|
rs1602295979
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005138.3(SCO2):c.2T>C (p.Met1Thr)
|
rs1603441682
|
|
NM_005188.4(CBL):c.1169A>T (p.Asp390Val)
|
rs763058208
|
|
NM_005188.4(CBL):c.306T>G (p.Tyr102Ter)
|
rs397507489
|
|
NM_005199.5(CHRNG):c.1366_1367del (p.His457fs)
|
rs1309599304
|
|
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg)
|
rs1596339533
|
|
NM_005220.3(DLX3):c.337GAG[1] (p.Glu114del)
|
rs1598155105
|
|
NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly)
|
rs1435433748
|
|
NM_005476.7(GNE):c.796C>T (p.Arg266Trp)
|
rs121908621
|
|
NM_005506.4(SCARB2):c.108dup (p.Ile37fs)
|
rs1733108376
|
|
NM_005522.5(HOXA1):c.175dup (p.Val59fs)
|
rs769152039
|
|
NM_005585.5(SMAD6):c.592del (p.Arg198fs)
|
rs1893041298
|
|
NM_005591.4(MRE11):c.1166T>A (p.Val389Glu)
|
rs1591680946
|
|
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)
|
rs137852763
|
|
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp)
|
rs1176763588
|
|
NM_005639.3(SYT1):c.1100_1102dup (p.Lys367dup)
|
rs1593076474
|
|
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter)
|
rs1561635887
|
|
NM_005797.4(MPZL2):c.226-1G>A
|
rs1949708829
|
|
NM_005807.6(PRG4):c.3139_3140del (p.Lys1047fs)
|
rs1571575523
|
|
NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer)
|
rs769917456
|
|
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del)
|
rs1575202038
|
|
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)
|
rs1555691402
|
|
NM_005957.5(MTHFR):c.776T>C (p.Ile259Thr)
|
rs1570478057
|
|
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg)
|
rs1315777461
|
|
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val)
|
rs1555641324
|
|
NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg)
|
rs758413695
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006009.4(TUBA1A):c.74G>A (p.Cys25Tyr)
|
rs1565627777
|
|
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)
|
rs1942168488
|
|
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser)
|
rs587784495
|
|
NM_006015.6(ARID1A):c.1113G>A (p.Gly371=)
|
rs1485078108
|
|
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met)
|
rs371505143
|
|
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter)
|
rs119479061
|
|
NM_006096.4(NDRG1):c.944-1G>T
|
rs1588216753
|
|
NM_006118.4(HAX1):c.463dup (p.Gln155fs)
|
rs1572018886
|
|
NM_006208.3(ENPP1):c.1066T>C (p.Trp356Arg)
|
rs751147622
|
|
NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter)
|
rs561075447
|
|
NM_006295.3(VARS1):c.1341G>T (p.Met447Ile)
|
rs1581645904
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006412.4(AGPAT2):c.335del (p.Pro112fs)
|
rs1588263957
|
|
NM_006439.5(MAB21L2):c.151C>G (p.Arg51Gly)
|
rs587777512
|
|
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)
|
rs794727507
|
|
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter)
|
rs1555989364
|
|
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)
|
rs397514610
|
|
NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter)
|
rs104893720
|
|
NM_006586.5(CNPY3):c.496-3_496-2del
|
rs1581718297
|
|
NM_006642.5(SDCCAG8):c.1853+1G>A
|
rs1573930690
|
|
NM_006721.4(ADK):c.813dup (p.Asn272fs)
|
rs1589286482
|
|
NM_006755.2(TALDO1):c.793del (p.Gln265fs)
|
rs727502867
|
|
NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr)
|
rs1554486894
|
|
NM_006766.5(KAT6A):c.2218del (p.Arg740fs)
|
rs1587723169
|
|
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His)
|
rs767374538
|
|
NM_006772.3(SYNGAP1):c.1269T>A (p.Tyr423Ter)
|
rs1561785045
|
|
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser)
|
rs150736372
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
NM_006922.4(SCN3A):c.3265G>C (p.Asp1089His)
|
rs1574158109
|
|
NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del)
|
rs1582192007
|
|
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser)
|
rs754590341
|
|
NM_007262.5(PARK7):c.191_192del (p.Glu64fs)
|
rs1553122929
|
|
NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala)
|
rs80357069
|
|
NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala)
|
rs866395967
|
|
NM_007348.4(ATF6):c.1784del (p.Leu595fs)
|
rs1558022158
|
|
NM_007348.4(ATF6):c.511del (p.Ile171fs)
|
rs1571134523
|
|
NM_012144.4(DNAI1):c.1311+2T>A
|
rs1587085165
|
|
NM_012193.4(FZD4):c.461A>G (p.His154Arg)
|
rs1334686841
|
|
NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter)
|
rs1565526121
|
|
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)
|
rs1554616628
|
|
NM_013254.4(TBK1):c.400C>T (p.Arg134Cys)
|
rs1592358092
|
|
NM_013275.6(ANKRD11):c.2609_2612dup (p.Asp871fs)
|
rs1597459998
|
|
NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter)
|
rs2034195603
|
|
NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg)
|
rs1239964151
|
|
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu)
|
rs1562313702
|
|
NM_014141.6(CNTNAP2):c.2099-79071A>G
|
rs1584975264
|
|
NM_014239.4(EIF2B2):c.591C>G (p.Phe197Leu)
|
rs1595009164
|
|
NM_014290.3(TDRD7):c.2539G>A (p.Asp847Asn)
|
rs1477743112
|
|
NM_014297.5(ETHE1):c.592dup (p.His198fs)
|
rs1555762070
|
|
NM_014319.5(LEMD3):c.2094T>G (p.His698Gln)
|
rs1309178409
|
|
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)
|
rs1114167288
|
|
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)
|
rs1060503431
|
|
NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu)
|
rs1569361725
|
|
NM_014639.4(SKIC3):c.4175_4176dup (p.Val1393fs)
|
rs1582849711
|
|
NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys)
|
rs1586200380
|
|
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter)
|
rs1581930130
|
|
NM_014795.4(ZEB2):c.3114C>G (p.His1038Gln)
|
rs1573708173
|
|
NM_014845.6(FIG4):c.968A>G (p.Gln323Arg)
|
rs1583671246
|
|
NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro)
|
rs1660016633
|
|
NM_014915.3(ANKRD26):c.2476G>T (p.Glu826Ter)
|
rs1589257502
|
|
NM_014915.3(ANKRD26):c.5102_5106del (p.Val1701fs)
|
rs2052846280
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014956.5(CEP164):c.347del (p.Lys116fs)
|
rs751277203
|
|
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys)
|
rs1565416876
|
|
NM_014989.7(RIMS1):c.2770+2T>C
|
rs1590681805
|
|
NM_014994.3(MAPKBP1):c.934C>T (p.Arg312Ter)
|
rs1596088812
|
|
NM_015100.4(POGZ):c.2188_2190delinsAAA (p.Tyr730Lys)
|
rs1571340611
|
|
NM_015158.5(KANK1):c.130G>T (p.Asp44Tyr)
|
rs1564032190
|
|
NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter)
|
rs1585190351
|
|
NM_015340.4(LARS2):c.457A>C (p.Asn153His)
|
rs786205560
|
|
NM_015375.3(DSTYK):c.2605G>T (p.Ala869Ser)
|
rs1574742379
|
|
NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe)
|
rs1558788291
|
|
NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter)
|
rs2077030838
|
|
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val)
|
rs1303667371
|
|
NM_015474.4(SAMHD1):c.625+1G>A
|
rs1601141002
|
|
NM_015506.3(MMACHC):c.616del (p.Arg206fs)
|
rs1163462384
|
|
NM_015697.9(COQ2):c.16C>A (p.Gln6Lys)
|
rs752575160
|
|
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
|
rs119476046
|
|
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)
|
rs1602937895
|
|
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp)
|
rs1570073403
|
|
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)
|
rs730882234
|
|
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs)
|
rs1863269109
|
|
NM_016156.6(MTMR2):c.25_26del (p.Leu10fs)
|
rs1591060788
|
|
NM_016180.5(SLC45A2):c.870del (p.Asn290fs)
|
rs1579547726
|
|
NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)
|
rs755138493
|
|
NM_016239.4(MYO15A):c.346_376del (p.Gly116fs)
|
rs1597747826
|
|
NM_016341.4(PLCE1):c.3058C>T (p.Gln1020Ter)
|
rs895782232
|
|
NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr)
|
rs180876175
|
|
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp)
|
rs1593410369
|
|
NM_016648.4(LARP7):c.1024_1030dup (p.Thr344fs)
|
rs1057519017
|
|
NM_016648.4(LARP7):c.427del (p.Arg143fs)
|
rs1560929898
|
|
NM_017414.4(USP18):c.1073+1G>A
|
rs1602534094
|
|
NM_017721.5(CC2D1A):c.748+1G>T
|
rs876657679
|
|
NM_017755.6(NSUN2):c.1020del (p.Gly341fs)
|
rs1579368865
|
|
NM_017780.4(CHD7):c.6734del (p.Leu2245fs)
|
rs1563661595
|
|
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg)
|
rs1586468892
|
|
NM_017882.3(CLN6):c.316dup (p.Arg106fs)
|
rs397515352
|
|
NM_017946.4(FKBP14):c.197+5_197+8del
|
rs747353360
|
|
NM_018010.4(IFT57):c.585+3A>G
|
rs1560127636
|
|
NM_018127.7(ELAC2):c.1299G>T (p.Trp433Cys)
|
rs1598224070
|
|
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu)
|
rs397515465
|
|
NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del)
|
rs1385075246
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)
|
rs199422147
|
|
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)
|
rs1057520873
|
|
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter)
|
rs137852997
|
|
NM_018196.4(TMLHE):c.6G>T (p.Trp2Cys)
|
rs782121512
|
|
NM_018238.4(AGK):c.424-3C>G
|
rs766413410
|
|
NM_018238.4(AGK):c.72G>A (p.Trp24Ter)
|
rs1587053244
|
|
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)
|
rs1589625941
|
|
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg)
|
rs1582168492
|
|
NM_018486.3(HDAC8):c.859T>C (p.Cys287Arg)
|
rs1602975122
|
|
NM_018489.3(ASH1L):c.1573G>C (p.Val525Leu)
|
rs1570942566
|
|
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter)
|
rs1411237396
|
|
NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu)
|
rs1586807529
|
|
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter)
|
rs1555374290
|
|
NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter)
|
rs1596194950
|
|
NM_019096.5(GTPBP2):c.1236+1G>A
|
rs1252019134
|
|
NM_019108.4(SMG9):c.701+4A>G
|
rs869312742
|
|
NM_020198.3(CCDC47):c.567_570del (p.Glu190fs)
|
rs765103846
|
|
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)
|
rs1553281318
|
|
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup)
|
rs1558212011
|
|
NM_020312.4(COQ9):c.184C>T (p.His62Tyr)
|
rs757251412
|
|
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266
|
|
NM_020451.3(SELENON):c.455G>T (p.Ser152Ile)
|
rs762382665
|
|
NM_020461.4(TUBGCP6):c.4521del (p.Phe1508fs)
|
rs2064470709
|
|
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met)
|
rs754097561
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020778.4(ALPK3):c.5019del
|
rs2141573290
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe)
|
rs1599633287
|
|
NM_020971.3(SPTBN4):c.4584+1G>T
|
rs1599794560
|
|
NM_021005.4(NR2F2):c.1087C>A (p.Leu363Ile)
|
rs1596432381
|
|
NM_021147.5(CCNO):c.425del (p.Pro142fs)
|
rs752527657
|
|
NM_021222.3(PRUNE1):c.901A>G (p.Ile301Val)
|
rs1558088029
|
|
NM_021224.6(ZNF462):c.6671_6672insG (p.Asp2224fs)
|
rs1588136019
|
|
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)
|
rs77975504
|
|
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter)
|
rs569240271
|
|
NM_021942.6(TRAPPC11):c.1208-5C>G
|
rs185570336
|
|
NM_021942.6(TRAPPC11):c.464C>T (p.Ser155Leu)
|
rs868721699
|
|
NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu)
|
rs768092083
|
|
NM_022167.4(XYLT2):c.520del (p.Ala174fs)
|
rs797044807
|
|
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter)
|
rs749688157
|
|
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs)
|
rs1570452214
|
|
NM_022356.4(P3H1):c.570_571del (p.Gly191fs)
|
rs1553143741
|
|
NM_022370.4(ROBO3):c.2727C>G (p.Cys909Trp)
|
rs1565313973
|
|
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val)
|
rs1581535417
|
|
NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln)
|
rs1573454800
|
|
NM_023067.4(FOXL2):c.313_315del (p.Asn105del)
|
rs1057516154
|
|
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln)
|
rs1040187200
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val)
|
rs28937903
|
|
NM_024339.5(THOC6):c.837C>A (p.Cys279Ter)
|
rs146682486
|
|
NM_024422.6(DSC2):c.2075T>C (p.Leu692Pro)
|
rs1567972995
|
|
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)
|
rs786205483
|
|
NM_024598.4(USB1):c.370T>C (p.Ser124Pro)
|
rs1597049287
|
|
NM_025000.4(DCAF17):c.436del (p.Ala147fs)
|
rs797045038
|
|
NM_025074.7(FRAS1):c.1226dup (p.Gln411fs)
|
rs1727403682
|
|
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)
|
rs1292516576
|
|
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)
|
rs886039814
|
|
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala)
|
rs121917884
|
|
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly)
|
rs1565941025
|
|
NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter)
|
rs1598089943
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
|
NM_031229.4(RBCK1):c.461-2A>G
|
rs2016220601
|
|
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys)
|
rs1602749982
|
|
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn)
|
rs749894314
|
|
NM_032228.6(FAR1):c.772G>A (p.Gly258Arg)
|
rs1591268116
|
|
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter)
|
rs756783990
|
|
NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser)
|
rs1430511251
|
|
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)
|
rs556752387
|
|
NM_032608.7(MYO18B):c.969AAG[1] (p.Arg325del)
|
rs1601634468
|
|
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn)
|
rs558425417
|
|
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
|
rs1583595091
|
|
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)
|
rs200113494
|
|
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu)
|
rs1575477812
|
|
NM_033409.4(SLC52A3):c.71G>A (p.Trp24Ter)
|
rs1599959574
|
|
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)
|
rs759541820
|
|
NM_052859.4(RFT1):c.749C>T (p.Ser250Phe)
|
rs1575494329
|
|
NM_052867.4(NALCN):c.2831dup (p.Thr945fs)
|
rs1594211244
|
|
NM_052867.4(NALCN):c.3533T>C (p.Leu1178Pro)
|
rs1594168705
|
|
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)
|
rs201623252
|
|
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)
|
rs969835605
|
|
NM_057175.5(NAA15):c.691+1G>A
|
rs1579109565
|
|
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)
|
rs886041401
|
|
NM_078480.3(PUF60):c.931del (p.Thr311fs)
|
rs1586565506
|
|
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter)
|
rs763706988
|
|
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly)
|
rs1007569346
|
|
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs)
|
rs587781231
|
|
NM_130839.5(UBE3A):c.883A>G (p.Ser295Gly)
|
rs1595810000
|
|
NM_133259.4(LRPPRC):c.1177T>C (p.Tyr393His)
|
rs863224054
|
|
NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp)
|
rs863224054
|
|
NM_133433.4(NIPBL):c.4173_4174del (p.Cys1391_Asp1392delinsTer)
|
rs1747566758
|
|
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter)
|
rs104894113
|
|
NM_138272.3(MPIG6B):c.149dup (p.Ala52fs)
|
rs1807027560
|
|
NM_138425.4(C12orf57):c.53-2A>G
|
rs1114167293
|
|
NM_138638.5(CFL2):c.338del (p.Ser113fs)
|
rs1594784544
|
|
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn)
|
rs370608473
|
|
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro)
|
rs1572611822
|
|
NM_139284.3(LGI4):c.834del (p.Ser279fs)
|
rs1600470099
|
|
NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn)
|
rs1892588636
|
|
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly)
|
rs141090506
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_145207.3(AFG2A):c.1741A>T (p.Lys581Ter)
|
rs1725521831
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu)
|
rs755024172
|
|
NM_145331.3(MAP3K7):c.608-1G>A
|
rs1180249151
|
|
NM_145331.3(MAP3K7):c.986A>T (p.Asn329Ile)
|
rs767139595
|
|
NM_152281.3(GORAB):c.231dup (p.Pro78fs)
|
rs1571243797
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)
|
rs386834070
|
|
NM_153218.4(LACC1):c.268_272dup (p.Lys92fs)
|
rs1955020297
|
|
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg)
|
rs730880295
|
|
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter)
|
rs1576660495
|
|
NM_153252.5(BRWD3):c.3602+20C>G
|
rs1602309498
|
|
NM_153816.6(SNX14):c.1725del (p.Phe575fs)
|
rs1311909367
|
|
NM_153816.6(SNX14):c.1809A>G (p.Ala603=)
|
rs1582696313
|
|
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)
|
rs1270369106
|
|
NM_172107.4(KCNQ2):c.1280G>A (p.Gly427Glu)
|
rs1601590796
|
|
NM_172107.4(KCNQ2):c.724T>G (p.Cys242Gly)
|
rs1555871915
|
|
NM_173477.5(USH1G):c.1311del (p.Lys438fs)
|
rs886043626
|
|
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)
|
rs118091316
|
|
NM_174916.3(UBR1):c.1440-1G>A
|
rs1596118528
|
|
NM_175914.5(HNF4A):c.50-4560G>A
|
rs1254732171
|
|
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)
|
rs1554961118
|
|
NM_177550.5(SLC13A5):c.285CGTGGC[3] (p.97AV[3])
|
rs1555543390
|
|
NM_178012.5(TUBB2B):c.4C>A (p.Arg2Ser)
|
rs1581526962
|
|
NM_178138.6(LHX3):c.112A>G (p.Ile38Val)
|
rs1341469393
|
|
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr)
|
rs1588563037
|
|
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)
|
rs864321624
|
|
NM_178857.6(RP1L1):c.5033del (p.Ala1678fs)
|
rs1797772026
|
|
NM_181458.4(PAX3):c.*3G>C
|
rs1574618272
|
|
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro)
|
rs1590156657
|
|
NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter)
|
rs1599651726
|
|
NM_182641.4(BPTF):c.3310G>C (p.Glu1104Gln)
|
rs749720186
|
|
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)
|
rs1064793391
|
|
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)
|
rs121912543
|
|
NM_182895.5(SCARF2):c.25del (p.Ala9fs)
|
rs1215759021
|
|
NM_182977.3(NNT):c.98dup (p.Leu33fs)
|
rs1579966821
|
|
NM_183050.4(BCKDHB):c.674T>C (p.Leu225Pro)
|
rs398124590
|
|
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)
|
rs397514513
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|
NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu)
|
rs1554513911
|
|
NM_198239.2(CCN6):c.246del (p.Glu84fs)
|
rs797044438
|
|
NM_198239.2(CCN6):c.648G>T (p.Trp216Cys)
|
rs781860587
|
|
NM_198428.3(BBS9):c.1789+1G>A
|
rs201938124
|
|
NM_198488.5(FAM83H):c.1379G>A (p.Trp460Ter)
|
rs137854444
|
|
NM_203447.4(DOCK8):c.882dup (p.Glu295fs)
|
rs1554668061
|
|
NM_203475.3(PORCN):c.329+1G>A
|
rs1602070594
|
|
NM_205836.3(FBXO38):c.1618+1G>T
|
rs1581261359
|
|
NM_207037.2(TCF12):c.1035+5G>A
|
rs878853094
|
|
NM_207111.4(RNF216):c.2663T>A (p.Val888Glu)
|
rs1449103875
|
|
NM_207391.3(RGS9BP):c.323_342delinsACCGGCG (p.Pro108fs)
|
rs1968005848
|
|
NM_213653.4(HJV):c.497A>G (p.His166Arg)
|
rs1553769663
|
|