NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_004483.5(GCSH):c.53C>T (p.Ala18Val)
|
rs540997326
|
0.00326
|
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)
|
rs140963213
|
0.00275
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)
|
rs148352371
|
0.00245
|
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val)
|
rs113401862
|
0.00236
|
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu)
|
rs147173555
|
0.00165
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)
|
rs142614369
|
0.00132
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)
|
rs140243105
|
0.00081
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)
|
rs143108250
|
0.00073
|
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly)
|
rs186865544
|
0.00073
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys)
|
rs201733073
|
0.00072
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)
|
rs61736659
|
0.00065
|
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)
|
rs137964147
|
0.00057
|
NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg)
|
rs201020526
|
0.00052
|
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)
|
rs200151353
|
0.00051
|
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)
|
rs751749989
|
0.00048
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)
|
rs200520924
|
0.00045
|
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)
|
rs146877597
|
0.00043
|
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)
|
rs149837553
|
0.00041
|
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)
|
rs200897773
|
0.00040
|
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile)
|
rs189609282
|
0.00037
|
NM_005045.4(RELN):c.1483A>G (p.Ile495Val)
|
rs150850005
|
0.00034
|
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)
|
rs201756175
|
0.00034
|
NM_000384.3(APOB):c.9322G>A (p.Glu3108Lys)
|
rs140240214
|
0.00033
|
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr)
|
rs148640214
|
0.00033
|
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val)
|
rs147026512
|
0.00031
|
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)
|
rs121913563
|
0.00031
|
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp)
|
rs139221232
|
0.00030
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser)
|
rs767013819
|
0.00029
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00026
|
NM_004304.5(ALK):c.310C>T (p.Pro104Ser)
|
rs576431612
|
0.00026
|
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser)
|
rs115577014
|
0.00026
|
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly)
|
rs138598422
|
0.00025
|
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)
|
rs762648754
|
0.00024
|
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro)
|
rs149174359
|
0.00024
|
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His)
|
rs144830879
|
0.00024
|
NM_005045.4(RELN):c.59C>T (p.Thr20Met)
|
rs145135688
|
0.00024
|
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)
|
rs375673671
|
0.00023
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu)
|
rs141235562
|
0.00022
|
NM_152383.5(DIS3L2):c.1430T>G (p.Leu477Arg)
|
rs201719374
|
0.00022
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser)
|
rs201422815
|
0.00021
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
NM_000207.3(INS):c.-153C>G
|
rs915076855
|
0.00019
|
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
|
rs370093129
|
0.00019
|
NM_000360.4(TH):c.679G>A (p.Glu227Lys)
|
rs536382000
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln)
|
rs200010849
|
0.00017
|
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)
|
rs201205904
|
0.00016
|
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu)
|
rs140330831
|
0.00016
|
NM_000384.3(APOB):c.6969T>A (p.Asn2323Lys)
|
rs138118085
|
0.00016
|
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)
|
rs145885540
|
0.00016
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu)
|
rs766868824
|
0.00016
|
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)
|
rs200206944
|
0.00016
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)
|
rs146642551
|
0.00016
|
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)
|
rs201044262
|
0.00016
|
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)
|
rs200690226
|
0.00015
|
NM_000384.3(APOB):c.7577T>C (p.Met2526Thr)
|
rs373272476
|
0.00015
|
NM_032415.7(CARD11):c.2735G>A (p.Arg912Gln)
|
rs368119340
|
0.00015
|
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
|
rs200698961
|
0.00014
|
NM_000384.3(APOB):c.6941T>C (p.Leu2314Pro)
|
rs372035579
|
0.00014
|
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr)
|
rs780695627
|
0.00014
|
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)
|
rs144465428
|
0.00014
|
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)
|
rs140002194
|
0.00014
|
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)
|
rs376968555
|
0.00014
|
NM_000384.3(APOB):c.1010T>A (p.Ile337Asn)
|
rs148126873
|
0.00013
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp)
|
rs368995503
|
0.00013
|
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val)
|
rs2697798
|
0.00013
|
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)
|
rs556748657
|
0.00012
|
NM_000384.3(APOB):c.5434G>T (p.Gly1812Trp)
|
rs140174653
|
0.00012
|
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp)
|
rs139824017
|
0.00012
|
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln)
|
rs147693839
|
0.00012
|
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val)
|
rs148770452
|
0.00011
|
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=)
|
rs146619460
|
0.00011
|
NM_000384.3(APOB):c.7006G>A (p.Ala2336Thr)
|
rs146888928
|
0.00011
|
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile)
|
rs183770014
|
0.00011
|
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln)
|
rs116463039
|
0.00011
|
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln)
|
rs374424323
|
0.00011
|
NM_000384.3(APOB):c.1316G>A (p.Arg439Gln)
|
rs61742990
|
0.00010
|
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala)
|
rs139843107
|
0.00010
|
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu)
|
rs782439813
|
0.00010
|
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser)
|
rs143891279
|
0.00010
|
NM_052989.3(IFT122):c.229G>A (p.Val77Ile)
|
rs369525803
|
0.00010
|
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr)
|
rs150218077
|
0.00009
|
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp)
|
rs199758244
|
0.00009
|
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr)
|
rs551510986
|
0.00009
|
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)
|
rs145552439
|
0.00009
|
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)
|
rs368278927
|
0.00009
|
NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp)
|
rs142828185
|
0.00009
|
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys)
|
rs777768807
|
0.00009
|
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
0.00009
|
NM_002294.3(LAMP2):c.1093+2544A>G
|
rs777128122
|
0.00009
|
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)
|
rs139928148
|
0.00009
|
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His)
|
rs367549881
|
0.00009
|
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg)
|
rs751048080
|
0.00008
|
NM_005045.4(RELN):c.697G>A (p.Ala233Thr)
|
rs181961566
|
0.00008
|
NM_014009.4(FOXP3):c.984G>A (p.Met328Ile)
|
rs367860281
|
0.00008
|
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn)
|
rs112236248
|
0.00007
|
NM_000384.3(APOB):c.2312C>T (p.Pro771Leu)
|
rs200524554
|
0.00007
|
NM_002230.4(JUP):c.427G>A (p.Ala143Thr)
|
rs375788626
|
0.00007
|
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)
|
rs747580402
|
0.00007
|
NM_004415.4(DSP):c.8172G>T (p.Gln2724His)
|
rs372569211
|
0.00007
|
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr)
|
rs753901380
|
0.00006
|
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser)
|
rs145039828
|
0.00006
|
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
|
rs201658945
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000384.3(APOB):c.9317A>G (p.Asn3106Ser)
|
rs546747242
|
0.00006
|
NM_001101362.3(KBTBD13):c.43G>A (p.Gly15Ser)
|
rs779819069
|
0.00006
|
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe)
|
rs371828469
|
0.00006
|
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)
|
rs201079458
|
0.00006
|
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr)
|
rs200808105
|
0.00006
|
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)
|
rs2491079
|
0.00006
|
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)
|
rs138588403
|
0.00006
|
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)
|
rs149827779
|
0.00006
|
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter)
|
rs139326865
|
0.00006
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00006
|
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu)
|
rs376787713
|
0.00006
|
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp)
|
rs373039242
|
0.00006
|
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser)
|
rs80358776
|
0.00005
|
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile)
|
rs775885648
|
0.00005
|
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)
|
rs755085498
|
0.00005
|
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys)
|
rs132630327
|
0.00005
|
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)
|
rs145790362
|
0.00005
|
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys)
|
rs770328474
|
0.00005
|
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)
|
rs748459878
|
0.00005
|
NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val)
|
rs398123710
|
0.00005
|
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)
|
rs373455368
|
0.00005
|
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)
|
rs751849031
|
0.00005
|
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe)
|
rs753575634
|
0.00005
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)
|
rs141031133
|
0.00004
|
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys)
|
rs138768414
|
0.00004
|
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln)
|
rs139945826
|
0.00004
|
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)
|
rs140785340
|
0.00004
|
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile)
|
rs140503215
|
0.00004
|
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr)
|
rs775206410
|
0.00004
|
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)
|
rs63750027
|
0.00004
|
NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln)
|
rs201280873
|
0.00004
|
NM_000384.3(APOB):c.166T>C (p.Tyr56His)
|
rs150496608
|
0.00004
|
NM_000384.3(APOB):c.3220G>A (p.Gly1074Arg)
|
rs72653074
|
0.00004
|
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys)
|
rs781830206
|
0.00004
|
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)
|
rs764931697
|
0.00004
|
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)
|
rs762486621
|
0.00004
|
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg)
|
rs541043583
|
0.00004
|
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys)
|
rs370160870
|
0.00004
|
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val)
|
rs372740284
|
0.00004
|
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser)
|
rs376911077
|
0.00004
|
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met)
|
rs760263014
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)
|
rs374263890
|
0.00004
|
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu)
|
rs777664260
|
0.00004
|
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)
|
rs749891883
|
0.00004
|
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr)
|
rs772557416
|
0.00004
|
NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val)
|
rs200962317
|
0.00004
|
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)
|
rs200844059
|
0.00003
|
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met)
|
rs373701906
|
0.00003
|
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu)
|
rs149658326
|
0.00003
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His)
|
rs753002023
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000384.3(APOB):c.13448C>T (p.Ala4483Val)
|
rs147416761
|
0.00003
|
NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu)
|
rs768045701
|
0.00003
|
NM_000384.3(APOB):c.655C>T (p.Arg219Cys)
|
rs145661815
|
0.00003
|
NM_000384.3(APOB):c.6731G>A (p.Ser2244Asn)
|
rs146333152
|
0.00003
|
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His)
|
rs201982602
|
0.00003
|
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)
|
rs371368679
|
0.00003
|
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)
|
rs782281134
|
0.00003
|
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)
|
rs782275601
|
0.00003
|
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys)
|
rs565524160
|
0.00003
|
NM_003482.4(KMT2D):c.13924G>A (p.Val4642Ile)
|
rs200638996
|
0.00003
|
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln)
|
rs774403945
|
0.00003
|
NM_003482.4(KMT2D):c.3872G>A (p.Arg1291Gln)
|
rs369794887
|
0.00003
|
NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu)
|
rs765654409
|
0.00003
|
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr)
|
rs116504075
|
0.00003
|
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu)
|
rs116225248
|
0.00003
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln)
|
rs372129830
|
0.00003
|
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)
|
rs747569209
|
0.00003
|
NM_173354.5(SIK1):c.2243G>A (p.Arg748His)
|
rs375516507
|
0.00003
|
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser)
|
rs756022224
|
0.00002
|
NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp)
|
rs758354862
|
0.00002
|
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser)
|
rs369931782
|
0.00002
|
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser)
|
rs147584221
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000384.3(APOB):c.13463T>C (p.Ile4488Thr)
|
rs374389311
|
0.00002
|
NM_000384.3(APOB):c.1595G>A (p.Arg532Gln)
|
rs753831464
|
0.00002
|
NM_000384.3(APOB):c.3828C>A (p.Asn1276Lys)
|
rs199966747
|
0.00002
|
NM_000384.3(APOB):c.4928C>T (p.Ala1643Val)
|
rs1008238083
|
0.00002
|
NM_000384.3(APOB):c.5580G>T (p.Gln1860His)
|
rs199585500
|
0.00002
|
NM_000384.3(APOB):c.7727G>A (p.Arg2576His)
|
rs759057929
|
0.00002
|
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)
|
rs782454177
|
0.00002
|
NM_001114753.3(ENG):c.805A>G (p.Met269Val)
|
rs1323617205
|
0.00002
|
NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp)
|
rs1458326422
|
0.00002
|
NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro)
|
rs398123705
|
0.00002
|
NM_003482.4(KMT2D):c.251G>A (p.Arg84His)
|
rs780096090
|
0.00002
|
NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val)
|
rs1239905273
|
0.00002
|
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln)
|
rs773681267
|
0.00002
|
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)
|
rs771667880
|
0.00002
|
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser)
|
rs372374492
|
0.00001
|
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile)
|
rs200066766
|
0.00001
|
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val)
|
rs190152688
|
0.00001
|
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)
|
rs762598979
|
0.00001
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
NM_000384.3(APOB):c.12025G>A (p.Val4009Met)
|
rs140424976
|
0.00001
|
NM_000384.3(APOB):c.2333G>A (p.Arg778His)
|
rs201595604
|
0.00001
|
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)
|
rs374130804
|
0.00001
|
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
|
rs3819330
|
0.00001
|
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)
|
rs797045581
|
0.00001
|
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)
|
rs781984274
|
0.00001
|
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)
|
rs770290260
|
0.00001
|
NM_001114753.3(ENG):c.680A>G (p.His227Arg)
|
rs377548944
|
0.00001
|
NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn)
|
rs957430941
|
0.00001
|
NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys)
|
rs551819918
|
0.00001
|
NM_001458.5(FLNC):c.2376C>T (p.Ser792=)
|
rs754097557
|
0.00001
|
NM_003482.4(KMT2D):c.11690T>C (p.Leu3897Ser)
|
rs1342235871
|
0.00001
|
NM_004415.4(DSP):c.38C>T (p.Thr13Ile)
|
rs201133637
|
0.00001
|
NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu)
|
rs764259746
|
0.00001
|
NM_014159.7(SETD2):c.2819G>T (p.Gly940Val)
|
rs751707090
|
0.00001
|
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser)
|
rs767885129
|
0.00001
|
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg)
|
rs921266576
|
0.00001
|
NM_022489.4(INF2):c.2869G>A (p.Gly957Arg)
|
rs984879135
|
0.00001
|
NM_022489.4(INF2):c.839A>G (p.His280Arg)
|
rs759115381
|
0.00001
|
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val)
|
rs375391530
|
0.00001
|
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln)
|
rs113812219
|
|
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val)
|
rs553593355
|
|
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His)
|
rs774416016
|
|
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)
|
rs201152989
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)
|
rs63750226
|
|
NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000784.4(CYP27A1):c.1263+10del
|
rs765426068
|
|
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala)
|
rs1565452616
|
|
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly)
|
rs199830512
|
|
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr)
|
rs969716149
|
|
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe)
|
rs201160155
|
|
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC
|
rs796876119
|
|
NM_007272.3(CTRC):c.-59C>T
|
rs183658182
|
|
NM_014795.4(ZEB2):c.2471T>C (p.Met824Thr)
|
rs1553961536
|
|
NM_014795.4(ZEB2):c.807+3G>T
|
rs144925893
|
|
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr)
|
rs200979425
|
|
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg)
|
rs377281840
|
|
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro)
|
rs368869709
|
|
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val)
|
rs540563766
|
|