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_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_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro)
|
rs199742668
|
0.00240
|
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)
|
rs75442795
|
0.00172
|
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_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_144508.5(KNL1):c.2815A>T (p.Met939Leu)
|
rs145740834
|
0.00045
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_003721.4(RFXANK):c.188-11C>T
|
rs201545133
|
0.00029
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
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_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys)
|
rs200534908
|
0.00014
|
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_001378030.1(CCDC78):c.811C>T (p.Arg271Trp)
|
rs200865845
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
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_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_005956.4(MTHFD1):c.517C>T (p.Arg173Cys)
|
rs141210410
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
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_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_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_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_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_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_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
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_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
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_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)
|
rs199472737
|
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_002633.3(PGM1):c.1543C>T (p.Arg515Trp)
|
rs775651976
|
0.00002
|
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter)
|
rs730882240
|
0.00002
|
NM_017950.4(CCDC40):c.2832+360C>T
|
rs1567813319
|
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_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
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_000291.4(PGK1):c.758T>C (p.Ile253Thr)
|
rs137852534
|
0.00001
|
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)
|
rs767831048
|
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_000642.3(AGL):c.4353G>T (p.Trp1451Cys)
|
rs775685508
|
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_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_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_003235.5(TG):c.6725G>A (p.Arg2242His)
|
rs2069566
|
0.00001
|
NM_003764.4(STX11):c.173T>C (p.Leu58Pro)
|
rs431905512
|
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_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)
|
rs748571395
|
0.00001
|
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser)
|
rs750972972
|
0.00001
|
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)
|
rs764260054
|
0.00001
|
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)
|
rs768019897
|
0.00001
|
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)
|
rs1304109530
|
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_030632.3(ASXL3):c.2471C>T (p.Pro824Leu)
|
rs764053964
|
0.00001
|
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)
|
rs774005569
|
0.00001
|
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)
|
rs730882213
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp)
|
rs548129734
|
0.00001
|
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)
|
rs111033349
|
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.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)
|
rs1249398093
|
|
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.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter)
|
rs867425110
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
NM_000123.4(ERCC5):c.2427del (p.Asp809fs)
|
rs777455688
|
|
NM_000138.5(FBN1):c.5917+1G>T
|
rs363808
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
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_000170.3(GLDC):c.2901G>C (p.Glu967Asp)
|
rs1587908683
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)
|
rs121912691
|
|
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter)
|
rs121909792
|
|
NM_000383.4(AIRE):c.44G>A (p.Arg15His)
|
rs179363876
|
|
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)
|
rs786205465
|
|
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_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_000492.4(CFTR):c.1993A>T (p.Thr665Ser)
|
rs1177201180
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000521.4(HEXB):c.1169+3_1169+10del
|
rs398123444
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg)
|
rs1592380743
|
|
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)
|
rs398123498
|
|
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly)
|
rs587777067
|
|
NM_001032386.2(SUOX):c.520del (p.Asp174fs)
|
rs1565798380
|
|
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)
|
rs137852739
|
|
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter)
|
rs1596891223
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042646.3(TRAK1):c.1759dup (p.His587fs)
|
rs1559390743
|
|
NM_001077365.2(POMT1):c.1175+4_1175+7del
|
rs1588409344
|
|
NM_001080467.3(MYO5B):c.1829C>A (p.Ser610Ter)
|
rs753160864
|
|
NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter)
|
rs762039116
|
|
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter)
|
rs1591672193
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His)
|
rs863225436
|
|
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn)
|
rs1977170764
|
|
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs)
|
rs1566212378
|
|
NM_001164277.2(SLC37A4):c.985+1G>A
|
rs1943553565
|
|
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe)
|
rs1574568704
|
|
NM_001174089.2(SLC4A11):c.2018+1G>A
|
rs2067654837
|
|
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)
|
rs764333096
|
|
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)
|
rs747536886
|
|
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs)
|
rs1601419986
|
|
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)
|
rs1275489527
|
|
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)
|
rs1556401714
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)
|
rs1578999313
|
|
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.5224del (p.Val1742fs)
|
rs1583502875
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr)
|
rs1554644827
|
|
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro)
|
rs730882250
|
|
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys)
|
rs1166271142
|
|
NM_001887.4(CRYBB1):c.171del (p.Asn58fs)
|
rs1064793935
|
|
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)
|
rs748294403
|
|
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)
|
rs765023287
|
|
NM_002187.3(IL12B):c.320dup (p.Glu108fs)
|
rs587776807
|
|
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser)
|
rs121918104
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)
|
rs794726860
|
|
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)
|
rs767004810
|
|
NM_003394.4(WNT10B):c.338-1G>C
|
rs1163162816
|
|
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del)
|
rs587783704
|
|
NM_003721.4(RFXANK):c.271+1G>C
|
rs759667201
|
|
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)
|
rs104894709
|
|
NM_003721.4(RFXANK):c.713-1G>A
|
rs2060720733
|
|
NM_003742.4(ABCB11):c.936G>T (p.Gln312His)
|
rs770497192
|
|
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)
|
rs367638648
|
|
NM_004273.5(CHST3):c.503T>G (p.Ile168Ser)
|
rs1589509307
|
|
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_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
|
|
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser)
|
rs1601071085
|
|
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val)
|
rs752600100
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005138.3(SCO2):c.2T>C (p.Met1Thr)
|
rs1603441682
|
|
NM_005476.7(GNE):c.796C>T (p.Arg266Trp)
|
rs121908621
|
|
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)
|
rs137852763
|
|
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)
|
rs1555691402
|
|
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg)
|
rs1315777461
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)
|
rs1942168488
|
|
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter)
|
rs119479061
|
|
NM_006096.4(NDRG1):c.944-1G>T
|
rs1588216753
|
|
NM_006295.3(VARS1):c.1341G>T (p.Met447Ile)
|
rs1581645904
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)
|
rs397514610
|
|
NM_006642.5(SDCCAG8):c.1853+1G>A
|
rs1573930690
|
|
NM_006766.5(KAT6A):c.2218del (p.Arg740fs)
|
rs1587723169
|
|
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_007262.5(PARK7):c.191_192del (p.Glu64fs)
|
rs1553122929
|
|
NM_012144.4(DNAI1):c.1311+2T>A
|
rs1587085165
|
|
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)
|
rs1554616628
|
|
NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg)
|
rs1239964151
|
|
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)
|
rs1114167288
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014956.5(CEP164):c.347del (p.Lys116fs)
|
rs751277203
|
|
NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter)
|
rs1585190351
|
|
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
|
rs119476046
|
|
NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)
|
rs755138493
|
|
NM_017414.4(USP18):c.1073+1G>A
|
rs1602534094
|
|
NM_017946.4(FKBP14):c.197+5_197+8del
|
rs747353360
|
|
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)
|
rs199422147
|
|
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)
|
rs1057520873
|
|
NM_018238.4(AGK):c.72G>A (p.Trp24Ter)
|
rs1587053244
|
|
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)
|
rs1589625941
|
|
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter)
|
rs1411237396
|
|
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter)
|
rs1555374290
|
|
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)
|
rs1553281318
|
|
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met)
|
rs754097561
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
NM_021147.5(CCNO):c.425del (p.Pro142fs)
|
rs752527657
|
|
NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu)
|
rs768092083
|
|
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs)
|
rs1570452214
|
|
NM_022356.4(P3H1):c.570_571del (p.Gly191fs)
|
rs1553143741
|
|
NM_023067.4(FOXL2):c.313_315del (p.Asn105del)
|
rs1057516154
|
|
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln)
|
rs1040187200
|
|
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)
|
rs786205483
|
|
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)
|
rs886039814
|
|
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly)
|
rs1565941025
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
|
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter)
|
rs756783990
|
|
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)
|
rs556752387
|
|
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn)
|
rs558425417
|
|
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)
|
rs759541820
|
|
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)
|
rs201623252
|
|
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)
|
rs886041401
|
|
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter)
|
rs763706988
|
|
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter)
|
rs104894113
|
|
NM_138272.3(MPIG6B):c.149dup (p.Ala52fs)
|
rs1807027560
|
|
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro)
|
rs1572611822
|
|
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly)
|
rs141090506
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152281.3(GORAB):c.231dup (p.Pro78fs)
|
rs1571243797
|
|
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)
|
rs386834070
|
|
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg)
|
rs730880295
|
|
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)
|
rs118091316
|
|
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)
|
rs1554961118
|
|
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)
|
rs121912543
|
|
NM_182977.3(NNT):c.98dup (p.Leu33fs)
|
rs1579966821
|
|
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)
|
rs397514513
|
|
NM_198239.2(CCN6):c.246del (p.Glu84fs)
|
rs797044438
|
|
NM_213653.4(HJV):c.497A>G (p.His166Arg)
|
rs1553769663
|
|