NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_144666.3(DNHD1):c.8782C>T (p.Arg2928Ter)
|
rs199752008
|
0.00136
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)
|
rs138016359
|
0.00088
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_015971.4(MRPS7):c.550A>G (p.Met184Val)
|
rs115047866
|
0.00067
|
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys)
|
rs137901350
|
0.00066
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)
|
rs115209243
|
0.00031
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg)
|
rs137852638
|
0.00026
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)
|
rs137852988
|
0.00022
|
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg)
|
rs753904927
|
0.00020
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)
|
rs200277476
|
0.00016
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)
|
rs769114543
|
0.00012
|
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe)
|
rs370444838
|
0.00011
|
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter)
|
rs774702094
|
0.00011
|
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys)
|
rs540217942
|
0.00010
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
|
rs774130993
|
0.00009
|
NM_001102564.3(IFT43):c.100G>A (p.Glu34Lys)
|
rs140366557
|
0.00009
|
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)
|
rs143739249
|
0.00009
|
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)
|
rs375401970
|
0.00008
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys)
|
rs141210410
|
0.00007
|
NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp)
|
rs368572297
|
0.00007
|
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met)
|
rs199545653
|
0.00006
|
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser)
|
rs758100382
|
0.00006
|
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg)
|
rs781734780
|
0.00006
|
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)
|
rs202059967
|
0.00006
|
NM_018230.3(NUP133):c.3164T>C (p.Leu1055Ser)
|
rs376476266
|
0.00006
|
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr)
|
rs529924080
|
0.00006
|
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile)
|
rs542429051
|
0.00006
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro)
|
rs539962457
|
0.00005
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro)
|
rs1468772495
|
0.00005
|
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)
|
rs766328537
|
0.00004
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)
|
rs121918010
|
0.00004
|
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)
|
rs150219690
|
0.00004
|
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys)
|
rs387906847
|
0.00004
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001243133.2(NLRP3):c.55G>C (p.Asp19His)
|
rs200154873
|
0.00003
|
NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter)
|
rs548527219
|
0.00003
|
NM_004539.4(NARS1):c.50C>T (p.Thr17Met)
|
rs148893823
|
0.00003
|
NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp)
|
rs104894270
|
0.00003
|
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val)
|
rs750982844
|
0.00003
|
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp)
|
rs1283838287
|
0.00003
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala)
|
rs1360128571
|
0.00003
|
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln)
|
rs1281361203
|
0.00003
|
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)
|
rs200649783
|
0.00003
|
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)
|
rs398123012
|
0.00003
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter)
|
rs777647845
|
0.00002
|
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly)
|
rs754080445
|
0.00002
|
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser)
|
rs782220208
|
0.00002
|
NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg)
|
rs1275864234
|
0.00002
|
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu)
|
rs770633648
|
0.00002
|
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu)
|
rs759393722
|
0.00002
|
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)
|
rs201757275
|
0.00002
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)
|
rs786204643
|
0.00001
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
|
rs137852871
|
0.00001
|
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His)
|
rs775061512
|
0.00001
|
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser)
|
rs771145682
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001135022.2(ELMOD3):c.512A>G (p.His171Arg)
|
rs1280785617
|
0.00001
|
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg)
|
rs1190703859
|
0.00001
|
NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys)
|
rs121434309
|
0.00001
|
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter)
|
rs587779779
|
0.00001
|
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)
|
rs753034799
|
0.00001
|
NM_001354483.2(CSGALNACT1):c.1151C>G (p.Pro384Arg)
|
rs746391651
|
0.00001
|
NM_001367975.1(BTG4):c.166G>A (p.Ala56Thr)
|
rs1865879702
|
0.00001
|
NM_001372106.1(DNAH10):c.13192G>A (p.Gly4398Arg)
|
rs759073156
|
0.00001
|
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)
|
rs140992482
|
0.00001
|
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)
|
rs121909724
|
0.00001
|
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg)
|
rs1057523689
|
0.00001
|
NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter)
|
rs932183417
|
0.00001
|
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)
|
rs770931044
|
0.00001
|
NM_004795.4(KL):c.578A>G (p.His193Arg)
|
rs121908423
|
0.00001
|
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His)
|
rs137852639
|
0.00001
|
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu)
|
rs370564476
|
0.00001
|
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)
|
rs1558498928
|
0.00001
|
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)
|
rs749314857
|
0.00001
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
NM_017752.3(TBC1D8B):c.738G>C (p.Gln246His)
|
rs761410195
|
0.00001
|
NM_018965.4(TREM2):c.132G>A (p.Trp44Ter)
|
rs104894001
|
0.00001
|
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter)
|
rs104893998
|
0.00001
|
NM_018965.4(TREM2):c.377T>G (p.Val126Gly)
|
rs121908402
|
0.00001
|
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter)
|
rs749969789
|
0.00001
|
NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp)
|
rs1435355373
|
0.00001
|
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter)
|
rs961245497
|
0.00001
|
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter)
|
rs866435487
|
0.00001
|
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)
|
rs780889226
|
0.00001
|
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter)
|
rs863225064
|
0.00001
|
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr)
|
rs376610445
|
0.00001
|
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter)
|
rs751583919
|
0.00001
|
NM_033198.4(PIGS):c.108G>A (p.Trp36Ter)
|
rs1263517814
|
0.00001
|
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)
|
rs777176261
|
0.00001
|
NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys)
|
rs1035842147
|
0.00001
|
NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln)
|
rs369544858
|
0.00001
|
NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter)
|
rs749779829
|
0.00001
|
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro)
|
rs1553259602
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)
|
rs749465732
|
|
NM_000090.4(COL3A1):c.3851G>A (p.Gly1284Glu)
|
rs587779528
|
|
NM_000125.4(ESR1):c.1181G>A (p.Arg394His)
|
rs1131692059
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr)
|
rs121918353
|
|
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser)
|
rs199472759
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)
|
rs1336387628
|
|
NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)
|
rs1555755308
|
|
NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)
|
rs1555755242
|
|
NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys)
|
rs2072168176
|
|
NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln)
|
rs2072157379
|
|
NM_001007228.2(SPOP):c.395G>T (p.Gly132Val)
|
rs2072155694
|
|
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys)
|
rs968974699
|
|
NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn)
|
rs2072153488
|
|
NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala)
|
rs2072244773
|
|
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg)
|
rs1567628757
|
|
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr)
|
rs1567626023
|
|
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)
|
rs1557539450
|
|
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)
|
rs794728811
|
|
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)
|
rs1131692231
|
|
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro)
|
rs1554108163
|
|
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu)
|
rs1554108163
|
|
NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr)
|
rs1735294501
|
|
NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg)
|
rs1735303754
|
|
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn)
|
rs1553956958
|
|
NM_001083619.3(GRIA2):c.1915G>T (p.Ala639Ser)
|
rs1579377564
|
|
NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly)
|
rs1735116193
|
|
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg)
|
rs1659978909
|
|
NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg)
|
rs1555369050
|
|
NM_001103.4(ACTN2):c.1459T>C (p.Cys487Arg)
|
rs1572140109
|
|
NM_001103.4(ACTN2):c.2180T>G (p.Leu727Arg)
|
rs1572148902
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn)
|
rs1554310600
|
|
NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg)
|
rs2148705154
|
|
NM_001135651.3(EIF2AK2):c.388G>C (p.Gly130Arg)
|
rs2148705154
|
|
NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val)
|
rs879255262
|
|
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)
|
rs121434308
|
|
NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys)
|
rs76344857
|
|
NM_001164811.2(PET117):c.172C>T (p.Gln58Ter)
|
rs2037617604
|
|
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)
|
rs764333096
|
|
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu)
|
rs1554709662
|
|
NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro)
|
rs1554709654
|
|
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)
|
rs953422571
|
|
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)
|
rs148695069
|
|
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg)
|
rs1554835827
|
|
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)
|
rs1057523275
|
|
NM_001204375.2(NPR3):c.1088A>T (p.Asp363Val)
|
rs1741953064
|
|
NM_001204375.2(NPR3):c.442T>C (p.Ser148Pro)
|
rs1433125500
|
|
NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly)
|
rs387907259
|
|
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter)
|
rs2050749062
|
|
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)
|
rs786200949
|
|
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)
|
rs1057518760
|
|
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)
|
rs1064795534
|
|
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)
|
rs1575654528
|
|
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)
|
rs572662012
|
|
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)
|
rs2054757914
|
|
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg)
|
rs1553638614
|
|
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro)
|
rs672601366
|
|
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His)
|
rs672601368
|
|
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)
|
rs1064793161
|
|
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)
|
rs1064793161
|
|
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe)
|
rs1569507511
|
|
NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter)
|
rs770703007
|
|
NM_001318852.2(MAPK8IP3):c.1334T>C (p.Leu445Pro)
|
rs1567198751
|
|
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)
|
rs1567203083
|
|
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)
|
rs1567214097
|
|
NM_001321380.2(PIK3C2A):c.-75-13528T>G
|
rs1565287817
|
|
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)
|
rs587777101
|
|
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)
|
rs587777100
|
|
NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp)
|
rs1876920040
|
|
NM_001353345.2(SETD1B):c.5833T>C (p.Phe1945Leu)
|
rs1877026127
|
|
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn)
|
rs1556323334
|
|
NM_001354483.2(CSGALNACT1):c.1294G>T (p.Asp432Tyr)
|
rs2054868908
|
|
NM_001367975.1(BTG4):c.73C>T (p.Gln25Ter)
|
rs1865886567
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp)
|
rs1758081729
|
|
NM_001378974.1(FBXW11):c.1154C>A (p.Ala385Asp)
|
rs1758081491
|
|
NM_001378974.1(FBXW11):c.787G>C (p.Gly263Arg)
|
rs1759346639
|
|
NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe)
|
rs869320709
|
|
NM_001384910.1(GUCA1A):c.320T>C (p.Ile107Thr)
|
rs869320710
|
|
NM_001387263.1(PATL2):c.784C>T (p.Arg262Ter)
|
rs1351320025
|
|
NM_001397406.1(FDX2):c.422C>T (p.Pro141Leu)
|
rs888630930
|
|
NM_001563.4(IMPG1):c.1736T>C (p.Leu579Pro)
|
rs1782008883
|
|
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile)
|
rs1732900321
|
|
NM_001829.4(CLCN3):c.1820T>C (p.Ile607Thr)
|
rs2150267036
|
|
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del)
|
rs1568317152
|
|
NM_001982.4(ERBB3):c.2359A>C (p.Thr787Pro)
|
rs2136818517
|
|
NM_001982.4(ERBB3):c.2695G>A (p.Val899Met)
|
rs2136822199
|
|
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter)
|
rs761317200
|
|
NM_002470.4(MYH3):c.859T>G (p.Phe287Val)
|
rs1567560080
|
|
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg)
|
rs1567559562
|
|
NM_002576.5(PAK1):c.1286A>G (p.Tyr429Cys)
|
rs1565583382
|
|
NM_002576.5(PAK1):c.392A>G (p.Tyr131Cys)
|
rs1565638316
|
|
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly)
|
rs1561737008
|
|
NM_002715.4(PPP2CA):c.572A>G (p.His191Arg)
|
rs915349596
|
|
NM_002715.4(PPP2CA):c.667G>C (p.Asp223His)
|
rs1580636668
|
|
NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys)
|
rs1561733474
|
|
NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup)
|
rs864622012
|
|
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)
|
rs387907306
|
|
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
|
|
|
NM_003108.4(SOX11):c.170T>C (p.Met57Thr)
|
rs2103276340
|
|
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp)
|
rs1665660543
|
|
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro)
|
rs1064794628
|
|
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
|
|
|
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)
|
rs780122780
|
|
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
|
|
|
NM_003120.3(SPI1):c.632A>C (p.His211Pro)
|
rs2095906547
|
|
NM_003301.7(TRHR):c.242C>G (p.Pro81Arg)
|
rs1586182837
|
|
NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr)
|
rs1586182912
|
|
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg)
|
rs879255633
|
|
NM_003504.5(CDC45):c.226A>C (p.Asn76His)
|
rs879255632
|
|
NM_003504.5(CDC45):c.893C>T (p.Ala298Val)
|
rs146559223
|
|
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly)
|
rs148737918
|
|
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln)
|
rs369245990
|
|
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter)
|
rs1382083552
|
|
NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp)
|
rs1280845604
|
|
NM_003676.4(DEGS1):c.839C>T (p.Ala280Val)
|
rs1558211070
|
|
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro)
|
rs782768127
|
|
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro)
|
rs1554764058
|
|
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro)
|
rs1010907740
|
|
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)
|
rs1577059692
|
|
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg)
|
rs781379291
|
|
NM_004184.4(WARS1):c.397C>T (p.Arg133Cys)
|
|
|
NM_004184.4(WARS1):c.770A>G (p.His257Arg)
|
rs770003315
|
|
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr)
|
rs1555690804
|
|
NM_004218.4(RAB11B):c.64G>A (p.Val22Met)
|
rs1555690779
|
|
NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr)
|
rs1566863801
|
|
NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter)
|
rs780625551
|
|
NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val)
|
rs1566843321
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)
|
rs1562969219
|
|
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly)
|
rs776410552
|
|
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)
|
rs1663960324
|
|
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)
|
rs376870425
|
|
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile)
|
rs28939714
|
|
NM_004897.5(MINPP1):c.157T>G (p.Tyr53Asp)
|
rs2131792567
|
|
NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg)
|
rs1597176845
|
|
NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu)
|
rs1956961224
|
|
NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu)
|
rs1956891911
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005611.4(RBL2):c.556C>T (p.Arg186Ter)
|
rs2153138545
|
|
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu)
|
rs1565962725
|
|
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)
|
rs1135402761
|
|
NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys)
|
rs144900171
|
|
NM_005639.3(SYT1):c.908T>A (p.Met303Lys)
|
rs1565922388
|
|
NM_005639.3(SYT1):c.911A>G (p.Asp304Gly)
|
rs1565922395
|
|
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter)
|
rs1601844140
|
|
NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro)
|
rs1555336810
|
|
NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile)
|
rs1555337681
|
|
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys)
|
rs1554786802
|
|
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His)
|
rs1554786803
|
|
NM_006390.4(IPO8):c.262G>A (p.Asp88Asn)
|
rs1234764565
|
|
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter)
|
rs1558478047
|
|
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter)
|
rs1553851860
|
|
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter)
|
rs1060499735
|
|
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp)
|
rs1555412542
|
|
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)
|
rs199474721
|
|
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)
|
rs267607276
|
|
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)
|
rs730882253
|
|
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter)
|
rs1554062562
|
|
NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser)
|
rs1567941256
|
|
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
|
|
|
NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter)
|
rs1568820302
|
|
NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter)
|
rs1555703272
|
|
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu)
|
rs1554616630
|
|
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)
|
rs1554616628
|
|
NM_014003.4(DHX38):c.971G>A (p.Arg324Gln)
|
rs766053952
|
|
NM_014055.4(IFT81):c.785T>G (p.Leu262Ter)
|
rs576969206
|
|
NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro)
|
rs1554197721
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter)
|
rs1057519279
|
|
NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter)
|
rs1057519283
|
|
NM_014727.3(KMT2B):c.2428C>T (p.Gln810Ter)
|
rs1057519281
|
|
NM_014727.3(KMT2B):c.4545C>A (p.Tyr1515Ter)
|
rs1057519284
|
|
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly)
|
rs1554504656
|
|
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys)
|
rs1563292586
|
|
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp)
|
rs1554504678
|
|
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)
|
rs1554504681
|
|
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
|
|
|
NM_015278.5(SASH1):c.1519T>G (p.Ser507Ala)
|
rs1562489143
|
|
NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys)
|
rs1562489156
|
|
NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro)
|
rs1562489224
|
|
NM_015278.5(SASH1):c.1556G>A (p.Ser519Asn)
|
rs1562489240
|
|
NM_015278.5(SASH1):c.1651T>C (p.Tyr551His)
|
rs1562490566
|
|
NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp)
|
rs1562490566
|
|
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter)
|
rs1037828930
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser)
|
rs955171017
|
|
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro)
|
rs1562848909
|
|
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter)
|
rs1562848568
|
|
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter)
|
rs1562848425
|
|
NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg)
|
rs1553849919
|
|
NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro)
|
rs1553850185
|
|
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter)
|
rs114727354
|
|
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)
|
rs184469579
|
|
NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp)
|
rs794726858
|
|
NM_017752.3(TBC1D8B):c.872T>C (p.Phe291Ser)
|
rs1602413491
|
|
NM_017951.5(SMPD4):c.82C>T (p.Gln28Ter)
|
rs1573728266
|
|
NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg)
|
rs1558091788
|
|
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly)
|
rs1558108130
|
|
NM_020158.4(EXOSC5):c.302C>A (p.Thr101Lys)
|
rs777418116
|
|
NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys)
|
rs1565707103
|
|
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly)
|
rs749427106
|
|
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter)
|
rs1563981743
|
|
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup)
|
rs775762093
|
|
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter)
|
rs1563982489
|
|
NM_020719.3(PRR12):c.5909T>C (p.Leu1970Pro)
|
rs2122390232
|
|
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
|
rs587777695
|
|
NM_020944.3(GBA2):c.1780G>C (p.Asp594His)
|
rs398123064
|
|
NM_020944.3(GBA2):c.2618G>A (p.Arg873His)
|
rs398123015
|
|
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)
|
rs1568133760
|
|
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)
|
rs1568107449
|
|
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)
|
rs1131692037
|
|
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter)
|
rs746341112
|
|
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter)
|
rs1553193507
|
|
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)
|
rs1565216037
|
|
NM_024678.6(NARS2):c.637G>T (p.Val213Phe)
|
rs756725793
|
|
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)
|
rs565224393
|
|
NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro)
|
rs1321552081
|
|
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter)
|
rs1056125920
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_033198.4(PIGS):c.101T>C (p.Leu34Pro)
|
rs1567618413
|
|
NM_033198.4(PIGS):c.923A>G (p.Glu308Gly)
|
rs1426262136
|
|
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)
|
rs121908638
|
|
NM_079420.3(MYL1):c.488T>G (p.Met163Arg)
|
rs1259220084
|
|
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)
|
rs121909275
|
|
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)
|
rs1249621033
|
|
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)
|
rs267606681
|
|
NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter)
|
rs61729699
|
|
NM_148923.4(CYB5A):c.131A>T (p.His44Leu)
|
rs1555688659
|
|
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter)
|
rs1555691399
|
|
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter)
|
rs796052242
|
|
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter)
|
rs772995852
|
|
NM_152713.5(STT3A):c.1214G>A (p.Arg405His)
|
rs780062429
|
|
NM_152713.5(STT3A):c.137A>G (p.His46Arg)
|
rs2135904246
|
|
NM_152713.5(STT3A):c.479G>A (p.Arg160Gln)
|
rs2135921186
|
|
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp)
|
rs1553259614
|
|
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter)
|
rs1554580083
|
|
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter)
|
rs587777073
|
|
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter)
|
rs779659766
|
|
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)
|
rs56984562
|
|
NM_173628.4(DNAH17):c.[10496C>T;10784T>C]
|
|
|
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys)
|
rs137853595
|
|
NM_201589.4(MAFA):c.191C>T (p.Ser64Phe)
|
rs1554635488
|
|
NM_212482.4(FN1):c.260G>T (p.Cys87Phe)
|
rs1553669703
|
|
NM_212482.4(FN1):c.367T>C (p.Cys123Arg)
|
rs1553667072
|
|
NM_212482.4(FN1):c.675C>G (p.Cys225Trp)
|
rs1181638652
|
|
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp)
|
rs1553659131
|
|