NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)
|
rs3729547
|
0.69444
|
NM_001006630.2(CHRM2):c.*295T>A
|
rs8191992
|
0.59512
|
NM_000257.4(MYH7):c.189C>T (p.Thr63=)
|
rs2069540
|
0.51584
|
NM_001927.3(DES):c.*762T>C
|
rs11685408
|
0.49560
|
NM_001330.5(CTF1):c.26-1030C>G
|
rs11862962
|
0.23264
|
NM_000335.5(SCN5A):c.*1453dup
|
rs397763929
|
0.23236
|
NM_014000.3(VCL):c.*1849_*1850insC
|
rs200756813
|
0.16729
|
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)
|
rs3729830
|
0.14676
|
NM_000257.4(MYH7):c.1095G>A (p.Lys365=)
|
rs735711
|
0.13859
|
NM_005159.4(ACTC1):c.*918delA
|
rs34323254
|
0.13239
|
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=)
|
rs3729845
|
0.08311
|
NM_001368067.1(LDB3):c.504T>C (p.Asp168=)
|
rs76615432
|
0.06909
|
NM_000257.4(MYH7):c.*113G>A
|
rs17794387
|
0.06427
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)
|
rs3730238
|
0.05965
|
NM_000021.3(PSEN1):c.-296C>T
|
rs1800839
|
0.05747
|
NM_000257.4(MYH7):c.1605A>G (p.Glu535=)
|
rs2069543
|
0.03319
|
NM_001018004.2(TPM1):c.*119T>C
|
rs138843544
|
0.02527
|
NM_000447.2(PSEN2):c.*536G>A
|
rs16846619
|
0.02363
|
NM_001330.5(CTF1):c.120C>T (p.Tyr40=)
|
rs8059269
|
0.02315
|
NM_001276345.2(TNNT2):c.*66G>A
|
rs3729998
|
0.01883
|
NM_000257.4(MYH7):c.975C>T (p.Asp325=)
|
rs2231124
|
0.01865
|
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg)
|
rs34423165
|
0.01671
|
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=)
|
rs7140196
|
0.01445
|
NM_001276345.2(TNNT2):c.163+12G>A
|
rs45580032
|
0.01441
|
NM_002471.4(MYH6):c.3979-7del
|
rs397516766
|
0.01401
|
NM_003476.4(CSRP3):c.-252G>A
|
rs59444364
|
0.01356
|
NM_000257.4(MYH7):c.1767C>T (p.Asn589=)
|
rs3729816
|
0.01311
|
NM_000257.4(MYH7):c.3972+15C>T
|
rs3729820
|
0.01159
|
NM_000257.4(MYH7):c.-36C>T
|
rs45497293
|
0.01123
|
NM_001276345.2(TNNT2):c.294+7G>A
|
rs45490292
|
0.01066
|
NM_007078.3(LDB3):c.896+6959C>T
|
rs139415121
|
0.00968
|
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu)
|
rs45592139
|
0.00960
|
NM_000257.4(MYH7):c.597A>G (p.Ala199=)
|
rs2069541
|
0.00853
|
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)
|
rs2754155
|
0.00831
|
NM_201550.4(LRRC10):c.360C>T (p.Leu120=)
|
rs145823585
|
0.00793
|
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=)
|
rs35914325
|
0.00788
|
NM_002471.4(MYH6):c.-64G>C
|
rs79618123
|
0.00747
|
NM_001006630.2(CHRM2):c.1197T>C (p.Thr399=)
|
rs34586275
|
0.00676
|
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)
|
rs9858585
|
0.00488
|
NM_000447.2(PSEN2):c.-400C>T
|
rs186308126
|
0.00465
|
NM_000257.4(MYH7):c.*20G>A
|
rs45548631
|
0.00463
|
NM_001134363.3(RBM20):c.*627_*628del
|
rs34371891
|
0.00439
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
NM_201550.4(LRRC10):c.584T>C (p.Ile195Thr)
|
rs151080979
|
0.00397
|
NM_003476.4(CSRP3):c.-181delC
|
rs886048102
|
0.00372
|
NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile)
|
rs76394680
|
0.00359
|
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
|
rs41313693
|
0.00351
|
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)
|
rs41313703
|
0.00349
|
NM_001943.5(DSG2):c.*131C>T
|
rs146873880
|
0.00328
|
NC_000014.9:g.23408281C>T
|
rs142094404
|
0.00318
|
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
|
rs71473272
|
0.00316
|
NM_007078.3(LDB3):c.163G>A (p.Val55Ile)
|
rs3740343
|
0.00292
|
NM_007078.3(LDB3):c.-23-32C>A
|
rs34972863
|
0.00282
|
NM_000337.6(SGCD):c.*1846_*1847dup
|
rs527436848
|
0.00258
|
NM_000257.4(MYH7):c.3853+7C>T
|
rs45467397
|
0.00247
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)
|
rs45554236
|
0.00217
|
NM_001330.5(CTF1):c.591C>G (p.Pro197=)
|
rs397516652
|
0.00208
|
NM_201550.4(LRRC10):c.521T>C (p.Leu174Pro)
|
rs146361892
|
0.00196
|
NM_000257.4(MYH7):c.-62C>T
|
rs45566639
|
0.00185
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_000257.4(MYH7):c.480C>T (p.Asn160=)
|
rs45500700
|
0.00178
|
NM_001943.5(DSG2):c.*989C>T
|
rs140755940
|
0.00172
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_001006630.2(CHRM2):c.773A>G (p.Asn258Ser)
|
rs142006633
|
0.00128
|
NM_001018005.1(TPM1):c.-206G>A
|
rs17525848
|
0.00111
|
NM_007078.3(LDB3):c.897-6834C>T
|
rs185972751
|
0.00101
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
NM_001330.5(CTF1):c.443G>T (p.Arg148Leu)
|
rs769217611
|
0.00084
|
NM_001006630.2(CHRM2):c.1114C>G (p.Pro372Ala)
|
rs138806839
|
0.00078
|
NM_001006630.2(CHRM2):c.1050A>G (p.Ser350=)
|
rs60372903
|
0.00070
|
NM_201550.4(LRRC10):c.697G>T (p.Gly233Cys)
|
rs144404056
|
0.00067
|
NM_001006630.2(CHRM2):c.991A>T (p.Thr331Ser)
|
rs146328962
|
0.00064
|
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=)
|
rs138294643
|
0.00063
|
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr)
|
rs2234933
|
0.00062
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
NM_201550.4(LRRC10):c.571T>A (p.Phe191Ile)
|
rs150202472
|
0.00058
|
NM_201550.4(LRRC10):c.768G>A (p.Ala256=)
|
rs148566929
|
0.00056
|
NM_014000.3(VCL):c.*1282C>T
|
rs529687198
|
0.00054
|
NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser)
|
rs138193709
|
0.00053
|
NM_001330.5(CTF1):c.280C>T (p.Leu94=)
|
rs397516648
|
0.00053
|
NM_201550.4(LRRC10):c.29C>T (p.Ala10Val)
|
rs201435560
|
0.00053
|
NM_201550.4(LRRC10):c.688G>A (p.Val230Met)
|
rs141399395
|
0.00051
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
NM_201550.4(LRRC10):c.453C>T (p.Ala151=)
|
rs12229290
|
0.00050
|
NM_005159.4(ACTC1):c.*1781C>T
|
rs560065427
|
0.00041
|
NM_001006630.2(CHRM2):c.150C>T (p.Val50=)
|
rs144511065
|
0.00039
|
NM_001006630.2(CHRM2):c.456C>T (p.Phe152=)
|
rs148163637
|
0.00038
|
NM_000257.4(MYH7):c.2349C>T (p.Arg783=)
|
rs139882431
|
0.00036
|
NM_005159.4(ACTC1):c.*983C>T
|
rs549986676
|
0.00035
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
NM_001006630.2(CHRM2):c.757G>A (p.Asp253Asn)
|
rs140681489
|
0.00034
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_001943.5(DSG2):c.*1036C>G
|
rs191443311
|
0.00032
|
NM_001006630.2(CHRM2):c.549T>C (p.Asn183=)
|
rs141951417
|
0.00031
|
NM_001006630.2(CHRM2):c.674T>A (p.Val225Asp)
|
rs143952141
|
0.00031
|
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=)
|
rs144420313
|
0.00030
|
NM_201550.4(LRRC10):c.149C>T (p.Ser50Phe)
|
rs141358220
|
0.00029
|
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn)
|
rs78439745
|
0.00026
|
NM_000335.5(SCN5A):c.*1673C>T
|
rs886058443
|
0.00024
|
NM_001330.5(CTF1):c.275C>A (p.Ala92Glu)
|
rs727502949
|
0.00023
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00021
|
NM_000335.5(SCN5A):c.*1969C>T
|
rs190416544
|
0.00020
|
NM_201550.4(LRRC10):c.87G>A (p.Pro29=)
|
rs766209612
|
0.00020
|
NM_000335.5(SCN5A):c.3228+6C>G
|
rs368048551
|
0.00019
|
NM_001006630.2(CHRM2):c.1059T>C (p.Asn353=)
|
rs143722099
|
0.00019
|
NM_000257.4(MYH7):c.*105T>C
|
rs200550717
|
0.00018
|
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile)
|
rs373519667
|
0.00017
|
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)
|
rs45523233
|
0.00016
|
NM_001943.5(DSG2):c.*2034C>T
|
rs886053738
|
0.00016
|
NM_001006630.2(CHRM2):c.1031T>G (p.Val344Gly)
|
rs139037603
|
0.00015
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_201550.4(LRRC10):c.707G>A (p.Arg236His)
|
rs570820489
|
0.00015
|
NM_201550.4(LRRC10):c.747T>C (p.Pro249=)
|
rs144939992
|
0.00015
|
NM_000257.4(MYH7):c.2526T>C (p.Ser842=)
|
rs554560162
|
0.00013
|
NM_001330.5(CTF1):c.145-13C>T
|
rs397516646
|
0.00013
|
NM_201550.4(LRRC10):c.199C>T (p.Leu67=)
|
rs781199181
|
0.00011
|
NM_000021.3(PSEN1):c.-226C>A
|
rs200531676
|
0.00010
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
NM_001330.5(CTF1):c.144+7G>T
|
rs374359365
|
0.00010
|
NM_001927.4(DES):c.*588G>A
|
rs746886224
|
0.00010
|
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu)
|
rs151253841
|
0.00010
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
NM_001330.5(CTF1):c.174G>A (p.Leu58=)
|
rs1269652445
|
0.00009
|
NM_201550.4(LRRC10):c.206C>T (p.Pro69Leu)
|
rs140389574
|
0.00009
|
NM_201550.4(LRRC10):c.57C>T (p.Asn19=)
|
rs754386706
|
0.00009
|
NM_201550.4(LRRC10):c.732G>A (p.Thr244=)
|
rs142092409
|
0.00009
|
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)
|
rs45560242
|
0.00008
|
NM_001006630.2(CHRM2):c.703C>A (p.Leu235Met)
|
rs138886480
|
0.00008
|
NM_001032283.3(TMPO):c.-126A>T
|
rs886049908
|
0.00008
|
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met)
|
rs368451573
|
0.00008
|
NM_201550.4(LRRC10):c.760C>T (p.Arg254Cys)
|
rs149896098
|
0.00008
|
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=)
|
rs3729831
|
0.00007
|
NM_001103.4(ACTN2):c.*1274_*1275del
|
rs771809993
|
0.00007
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
NM_001330.5(CTF1):c.464C>A (p.Pro155His)
|
rs779426091
|
0.00007
|
NM_001330.5(CTF1):c.592G>C (p.Gly198Arg)
|
rs1356326953
|
0.00007
|
NM_201550.4(LRRC10):c.382A>G (p.Ile128Val)
|
rs376622534
|
0.00007
|
NM_201550.4(LRRC10):c.470G>A (p.Arg157His)
|
rs140782746
|
0.00007
|
NM_201550.4(LRRC10):c.570C>T (p.Pro190=)
|
rs547157948
|
0.00007
|
NM_201550.4(LRRC10):c.704G>A (p.Arg235His)
|
rs538939242
|
0.00007
|
NM_000256.3(MYBPC3):c.1553T>C (p.Met518Thr)
|
rs886048378
|
0.00006
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
NM_000257.4(MYH7):c.1179C>T (p.Ala393=)
|
rs143293426
|
0.00006
|
NM_000257.4(MYH7):c.1888+8G>T
|
rs200668471
|
0.00006
|
NM_000257.4(MYH7):c.2028T>C (p.Asn676=)
|
rs145564868
|
0.00006
|
NM_001006630.2(CHRM2):c.169G>A (p.Val57Ile)
|
rs143842239
|
0.00006
|
NM_001006630.2(CHRM2):c.761G>T (p.Gly254Val)
|
rs368473785
|
0.00006
|
NM_001006630.2(CHRM2):c.973A>T (p.Ile325Phe)
|
rs773330734
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
NM_001330.5(CTF1):c.515T>C (p.Val172Ala)
|
rs892483374
|
0.00006
|
NM_001330.5(CTF1):c.55C>A (p.Leu19Ile)
|
rs544073469
|
0.00006
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
NM_007078.3(LDB3):c.690-4619G>T
|
rs761090088
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_201550.4(LRRC10):c.170T>C (p.Leu57Pro)
|
rs200318358
|
0.00006
|
NM_201550.4(LRRC10):c.266C>T (p.Ala89Val)
|
rs201075055
|
0.00006
|
NM_201550.4(LRRC10):c.276G>C (p.Gln92His)
|
rs375327073
|
0.00006
|
NM_201550.4(LRRC10):c.434T>C (p.Leu145Pro)
|
rs746066388
|
0.00006
|
NM_000257.4(MYH7):c.153C>T (p.Ile51=)
|
rs373145667
|
0.00005
|
NM_001006630.2(CHRM2):c.384T>C (p.Pro128=)
|
rs375980850
|
0.00005
|
NM_001330.5(CTF1):c.527G>A (p.Arg176His)
|
rs886051925
|
0.00005
|
NM_007078.3(LDB3):c.897-6665C>T
|
rs549156118
|
0.00005
|
NM_201550.4(LRRC10):c.260T>A (p.Phe87Tyr)
|
rs150521577
|
0.00005
|
NM_201550.4(LRRC10):c.575T>G (p.Leu192Arg)
|
rs140945419
|
0.00005
|
NM_000021.3(PSEN1):c.-214T>G
|
rs886050662
|
0.00004
|
NM_000021.4(PSEN1):c.*1415C>A
|
rs574671310
|
0.00004
|
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=)
|
rs375007425
|
0.00004
|
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)
|
rs768393069
|
0.00004
|
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)
|
rs886050418
|
0.00004
|
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=)
|
rs578166720
|
0.00004
|
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=)
|
rs878911306
|
0.00004
|
NM_001006630.2(CHRM2):c.1074G>C (p.Gln358His)
|
rs747925877
|
0.00004
|
NM_001006630.2(CHRM2):c.1088G>A (p.Arg363His)
|
rs147228075
|
0.00004
|
NM_001006630.2(CHRM2):c.213C>T (p.Ile71=)
|
rs770495131
|
0.00004
|
NM_001006630.2(CHRM2):c.480C>T (p.Leu160=)
|
rs975508576
|
0.00004
|
NM_001006630.2(CHRM2):c.570G>A (p.Thr190=)
|
rs777593546
|
0.00004
|
NM_001006630.2(CHRM2):c.632G>A (p.Arg211Gln)
|
rs774760812
|
0.00004
|
NM_001006630.2(CHRM2):c.756C>T (p.Asp252=)
|
rs531986911
|
0.00004
|
NM_001006630.2(CHRM2):c.951T>C (p.Asp317=)
|
rs77845403
|
0.00004
|
NM_001276345.2(TNNT2):c.720-5T>G
|
rs730881092
|
0.00004
|
NM_001330.5(CTF1):c.414C>A (p.Ala138=)
|
rs727505121
|
0.00004
|
NM_001330.5(CTF1):c.454G>C (p.Ala152Pro)
|
rs1467275471
|
0.00004
|
NM_005159.4(ACTC1):c.*1318T>G
|
rs759530643
|
0.00004
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
NM_007078.3(LDB3):c.690-4617G>A
|
rs754174632
|
0.00004
|
NM_014000.3(VCL):c.45G>A (p.Pro15=)
|
rs775062250
|
0.00004
|
NM_144573.4(NEXN):c.1892T>C (p.Ile631Thr)
|
rs775292649
|
0.00004
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
NM_201550.4(LRRC10):c.525G>A (p.Ser175=)
|
rs571446377
|
0.00004
|
NM_201550.4(LRRC10):c.678C>T (p.Asn226=)
|
rs367700049
|
0.00004
|
NM_201550.4(LRRC10):c.832T>C (p.Ter278Arg)
|
rs200140508
|
0.00004
|
NM_000256.3(MYBPC3):c.3191-7C>T
|
rs373012629
|
0.00003
|
NM_000256.3(MYBPC3):c.927-10C>T
|
rs201078659
|
0.00003
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
NM_000257.4(MYH7):c.540C>A (p.Ser180=)
|
rs369490861
|
0.00003
|
NM_000335.5(SCN5A):c.*945C>A
|
rs886058450
|
0.00003
|
NM_000335.5(SCN5A):c.21T>A (p.Pro7=)
|
rs587781157
|
0.00003
|
NM_000337.6(SGCD):c.*1171C>A
|
rs528794571
|
0.00003
|
NM_001006630.2(CHRM2):c.1194C>T (p.Ile398=)
|
rs150776322
|
0.00003
|
NM_001006630.2(CHRM2):c.1338C>T (p.Thr446=)
|
rs763752437
|
0.00003
|
NM_001018005.2(TPM1):c.-48C>T
|
rs747523720
|
0.00003
|
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His)
|
rs764117439
|
0.00003
|
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val)
|
rs886045828
|
0.00003
|
NM_001330.5(CTF1):c.145-10G>A
|
rs397516645
|
0.00003
|
NM_001330.5(CTF1):c.219C>G (p.Ala73=)
|
rs1252669969
|
0.00003
|
NM_001330.5(CTF1):c.466G>A (p.Ala156Thr)
|
rs936775298
|
0.00003
|
NM_001330.5(CTF1):c.469G>A (p.Ala157Thr)
|
rs876657768
|
0.00003
|
NM_001330.5(CTF1):c.497G>C (p.Gly166Ala)
|
rs1053768184
|
0.00003
|
NM_001943.5(DSG2):c.2162A>G (p.His721Arg)
|
rs756912703
|
0.00003
|
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
|
rs727502985
|
0.00003
|
NM_007078.3(LDB3):c.897-6909G>A
|
rs532856980
|
0.00003
|
NM_201550.4(LRRC10):c.141C>T (p.His47=)
|
rs373230856
|
0.00003
|
NM_201550.4(LRRC10):c.207G>A (p.Pro69=)
|
rs200277583
|
0.00003
|
NM_201550.4(LRRC10):c.348G>A (p.Glu116=)
|
rs778805482
|
0.00003
|
NM_201550.4(LRRC10):c.411G>A (p.Pro137=)
|
rs762992535
|
0.00003
|
NM_201550.4(LRRC10):c.454G>A (p.Gly152Ser)
|
rs756019434
|
0.00003
|
NM_201550.4(LRRC10):c.491G>A (p.Arg164Gln)
|
rs775896006
|
0.00003
|
NM_201550.4(LRRC10):c.617C>T (p.Pro206Leu)
|
rs763225285
|
0.00003
|
NM_201550.4(LRRC10):c.69G>T (p.Arg23Ser)
|
rs767711263
|
0.00003
|
NM_201550.4(LRRC10):c.809_812del (p.Pro270fs)
|
rs766326895
|
0.00003
|
NM_201550.4(LRRC10):c.98T>C (p.Met33Thr)
|
rs536125045
|
0.00003
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)
|
rs779973529
|
0.00002
|
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)
|
rs150241539
|
0.00002
|
NM_000257.4(MYH7):c.733-3C>T
|
rs765068619
|
0.00002
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
NM_001006630.2(CHRM2):c.1029C>T (p.Thr343=)
|
rs1481148988
|
0.00002
|
NM_001006630.2(CHRM2):c.1389C>T (p.Gly463=)
|
rs573795503
|
0.00002
|
NM_001006630.2(CHRM2):c.680A>G (p.Asn227Ser)
|
rs760821552
|
0.00002
|
NM_001006630.2(CHRM2):c.885T>C (p.Asn295=)
|
rs1443103188
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_001330.5(CTF1):c.228G>A (p.Pro76=)
|
rs886051923
|
0.00002
|
NM_001330.5(CTF1):c.474C>T (p.Thr158=)
|
rs1217608616
|
0.00002
|
NM_001330.5(CTF1):c.83G>A (p.Arg28His)
|
rs201703547
|
0.00002
|
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)
|
rs371708921
|
0.00002
|
NM_002471.4(MYH6):c.1822G>A (p.Ala608Thr)
|
rs886050409
|
0.00002
|
NM_002471.4(MYH6):c.212T>C (p.Val71Ala)
|
rs769686237
|
0.00002
|
NM_002471.4(MYH6):c.934G>A (p.Ala312Thr)
|
rs748143404
|
0.00002
|
NM_005159.5(ACTC1):c.-36C>G
|
rs886051091
|
0.00002
|
NM_007078.3(LDB3):c.897-6831C>T
|
rs886047355
|
0.00002
|
NM_170707.4(LMNA):c.-109G>T
|
rs886045360
|
0.00002
|
NM_201550.4(LRRC10):c.159G>A (p.Glu53=)
|
rs761912259
|
0.00002
|
NM_201550.4(LRRC10):c.190C>T (p.Leu64Phe)
|
rs144313495
|
0.00002
|
NM_201550.4(LRRC10):c.204T>C (p.Pro68=)
|
rs767076195
|
0.00002
|
NM_201550.4(LRRC10):c.24C>T (p.Leu8=)
|
rs772538122
|
0.00002
|
NM_201550.4(LRRC10):c.25G>A (p.Val9Met)
|
rs572910562
|
0.00002
|
NM_201550.4(LRRC10):c.494G>A (p.Arg165His)
|
rs372742540
|
0.00002
|
NM_201550.4(LRRC10):c.533G>A (p.Arg178Gln)
|
rs138855649
|
0.00002
|
NM_201550.4(LRRC10):c.742G>A (p.Asp248Asn)
|
rs373847240
|
0.00002
|
NM_201550.4(LRRC10):c.746C>G (p.Pro249Arg)
|
rs781382323
|
0.00002
|
NM_201550.4(LRRC10):c.818C>G (p.Pro273Arg)
|
rs529860544
|
0.00002
|
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val)
|
rs730880530
|
0.00001
|
NM_000257.4(MYH7):c.1119G>A (p.Ala373=)
|
rs572672362
|
0.00001
|
NM_000257.4(MYH7):c.1749C>T (p.Ala583=)
|
rs758665829
|
0.00001
|
NM_000257.4(MYH7):c.2692C>T (p.Leu898=)
|
rs727504407
|
0.00001
|
NM_000257.4(MYH7):c.2922+6G>C
|
rs781192476
|
0.00001
|
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)
|
rs745414245
|
0.00001
|
NM_000257.4(MYH7):c.4659C>T (p.His1553=)
|
rs570079347
|
0.00001
|
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)
|
rs730880824
|
0.00001
|
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln)
|
rs397516253
|
0.00001
|
NM_000335.5(SCN5A):c.*1731G>C
|
rs569249327
|
0.00001
|
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=)
|
rs781529391
|
0.00001
|
NM_000335.5(SCN5A):c.687T>C (p.Thr229=)
|
rs770390440
|
0.00001
|
NM_000337.6(SGCD):c.475G>A (p.Val159Ile)
|
rs370327314
|
0.00001
|
NM_001006630.2(CHRM2):c.1030G>A (p.Val344Met)
|
rs201165506
|
0.00001
|
NM_001006630.2(CHRM2):c.1094T>C (p.Ile365Thr)
|
rs1805158684
|
0.00001
|
NM_001006630.2(CHRM2):c.1113G>C (p.Gln371His)
|
rs1237014805
|
0.00001
|
NM_001006630.2(CHRM2):c.1143G>T (p.Arg381=)
|
rs1227972027
|
0.00001
|
NM_001006630.2(CHRM2):c.1180T>C (p.Leu394=)
|
rs781736829
|
0.00001
|
NM_001006630.2(CHRM2):c.1251C>A (p.Ile417=)
|
rs770736119
|
0.00001
|
NM_001006630.2(CHRM2):c.1329C>T (p.Cys443=)
|
rs187298017
|
0.00001
|
NM_001006630.2(CHRM2):c.1363C>A (p.Leu455Ile)
|
rs1470994649
|
0.00001
|
NM_001006630.2(CHRM2):c.154C>T (p.Arg52Cys)
|
rs1011147170
|
0.00001
|
NM_001006630.2(CHRM2):c.186A>G (p.Leu62=)
|
rs760443842
|
0.00001
|
NM_001006630.2(CHRM2):c.227C>G (p.Ser76Cys)
|
rs1440850408
|
0.00001
|
NM_001006630.2(CHRM2):c.426G>A (p.Met142Ile)
|
rs142493466
|
0.00001
|
NM_001006630.2(CHRM2):c.525G>A (p.Glu175=)
|
rs576281726
|
0.00001
|
NM_001006630.2(CHRM2):c.537G>A (p.Gln179=)
|
rs150934226
|
0.00001
|
NM_001006630.2(CHRM2):c.569C>T (p.Thr190Met)
|
rs1394629702
|
0.00001
|
NM_001006630.2(CHRM2):c.597G>A (p.Val199=)
|
rs769572164
|
0.00001
|
NM_001006630.2(CHRM2):c.618T>C (p.Tyr206=)
|
rs141382037
|
0.00001
|
NM_001006630.2(CHRM2):c.686A>G (p.Asp229Gly)
|
rs762688022
|
0.00001
|
NM_001006630.2(CHRM2):c.735T>C (p.Asn245=)
|
rs1263310656
|
0.00001
|
NM_001006630.2(CHRM2):c.911A>T (p.Asp304Val)
|
rs778284565
|
0.00001
|
NM_001006630.2(CHRM2):c.914A>G (p.Glu305Gly)
|
rs915877356
|
0.00001
|
NM_001042475.3(CEP85L):c.1020+17181A>T
|
rs779232815
|
0.00001
|
NM_001042475.3(CEP85L):c.1020+6250A>T
|
rs886060999
|
0.00001
|
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)
|
rs535319438
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001267550.2(TTN):c.55432+5G>C
|
rs754717390
|
0.00001
|
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val)
|
rs886055258
|
0.00001
|
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)
|
rs777101912
|
0.00001
|
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile)
|
rs886055245
|
0.00001
|
NM_001276345.2(TNNT2):c.720-9C>A
|
rs763204242
|
0.00001
|
NM_001330.5(CTF1):c.172C>T (p.Leu58=)
|
rs1194218989
|
0.00001
|
NM_001330.5(CTF1):c.190C>T (p.Pro64Ser)
|
rs1373635087
|
0.00001
|
NM_001330.5(CTF1):c.201G>T (p.Pro67=)
|
rs1405204256
|
0.00001
|
NM_001330.5(CTF1):c.207C>A (p.Ala69=)
|
rs1567331191
|
0.00001
|
NM_001330.5(CTF1):c.253G>C (p.Glu85Gln)
|
rs1489208133
|
0.00001
|
NM_001330.5(CTF1):c.314G>A (p.Cys105Tyr)
|
rs1324790071
|
0.00001
|
NM_001330.5(CTF1):c.319C>A (p.Arg107Ser)
|
rs727502950
|
0.00001
|
NM_001330.5(CTF1):c.328G>A (p.Glu110Lys)
|
rs1391759634
|
0.00001
|
NM_001330.5(CTF1):c.34C>T (p.Gln12Ter)
|
rs369917781
|
0.00001
|
NM_001330.5(CTF1):c.350G>A (p.Arg117His)
|
rs1332064376
|
0.00001
|
NM_001330.5(CTF1):c.389G>A (p.Arg130Gln)
|
rs2055409690
|
0.00001
|
NM_001330.5(CTF1):c.505C>T (p.Pro169Ser)
|
rs746337311
|
0.00001
|
NM_001330.5(CTF1):c.516G>A (p.Val172=)
|
rs1009554008
|
0.00001
|
NM_001330.5(CTF1):c.531T>C (p.Val177=)
|
rs772604974
|
0.00001
|
NM_001330.5(CTF1):c.582G>A (p.Gln194=)
|
rs1179040083
|
0.00001
|
NM_001330.5(CTF1):c.592G>A (p.Gly198Arg)
|
rs1356326953
|
0.00001
|
NM_001330.5(CTF1):c.596G>A (p.Gly199Asp)
|
rs776753331
|
0.00001
|
NM_001943.5(DSG2):c.*599_*600del
|
rs1491095224
|
0.00001
|
NM_001943.5(DSG2):c.2335-9T>C
|
rs757355636
|
0.00001
|
NM_001943.5(DSG2):c.2802A>G (p.Ile934Met)
|
rs368584610
|
0.00001
|
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr)
|
rs752390475
|
0.00001
|
NM_004281.4(BAG3):c.564G>T (p.Leu188=)
|
rs886046754
|
0.00001
|
NM_005159.4(ACTC1):c.*1090A>G
|
rs886051070
|
0.00001
|
NM_005159.4(ACTC1):c.-109C>A
|
rs886051097
|
0.00001
|
NM_014391.3(ANKRD1):c.458A>T (p.Lys153Ile)
|
rs727502889
|
0.00001
|
NM_020297.4(ABCC9):c.4316-14T>G
|
rs886049168
|
0.00001
|
NM_201550.4(LRRC10):c.142G>A (p.Val48Met)
|
rs565500326
|
0.00001
|
NM_201550.4(LRRC10):c.143T>G (p.Val48Gly)
|
rs1267413776
|
0.00001
|
NM_201550.4(LRRC10):c.195T>C (p.Asn65=)
|
rs552658459
|
0.00001
|
NM_201550.4(LRRC10):c.241_243del (p.Ala81del)
|
rs751444931
|
0.00001
|
NM_201550.4(LRRC10):c.242C>A (p.Ala81Asp)
|
rs764162460
|
0.00001
|
NM_201550.4(LRRC10):c.333C>T (p.Cys111=)
|
rs780066909
|
0.00001
|
NM_201550.4(LRRC10):c.351G>A (p.Leu117=)
|
rs753730377
|
0.00001
|
NM_201550.4(LRRC10):c.462C>T (p.Asn154=)
|
rs780713335
|
0.00001
|
NM_201550.4(LRRC10):c.497T>C (p.Leu166Pro)
|
rs774636598
|
0.00001
|
NM_201550.4(LRRC10):c.535C>T (p.Leu179=)
|
rs746518980
|
0.00001
|
NM_201550.4(LRRC10):c.607C>T (p.Arg203Cys)
|
rs143606238
|
0.00001
|
NM_201550.4(LRRC10):c.608G>A (p.Arg203His)
|
rs766586554
|
0.00001
|
NM_201550.4(LRRC10):c.627G>A (p.Ala209=)
|
rs770103230
|
0.00001
|
NM_201550.4(LRRC10):c.679G>A (p.Ala227Thr)
|
rs778412060
|
0.00001
|
NM_201550.4(LRRC10):c.706C>T (p.Arg236Cys)
|
rs867657812
|
0.00001
|
NM_201550.4(LRRC10):c.741C>T (p.Pro247=)
|
rs778555681
|
0.00001
|
NM_201550.4(LRRC10):c.761G>A (p.Arg254His)
|
rs780649377
|
0.00001
|
NM_201550.4(LRRC10):c.765T>C (p.Tyr255=)
|
rs548431025
|
0.00001
|
NM_201550.4(LRRC10):c.76C>T (p.Arg26Cys)
|
rs773143752
|
0.00001
|
NM_201550.4(LRRC10):c.774C>T (p.Val258=)
|
rs761916115
|
0.00001
|
NM_201550.4(LRRC10):c.77G>A (p.Arg26His)
|
rs751287791
|
0.00001
|
NC_000007.13:g.(?_136699613)_(136701013_?)del
|
|
|
NC_000007.13:g.(?_136699613)_(136701013_?)dup
|
|
|
NM_000021.3(PSEN1):c.-241G>T
|
rs886050661
|
|
NM_000021.4(PSEN1):c.*1716TATGA[4]
|
rs886050670
|
|
NM_000021.4(PSEN1):c.*1867ACAG[1]
|
rs563773430
|
|
NM_000021.4(PSEN1):c.*3033CT[2]
|
rs886050680
|
|
NM_000256.3(MYBPC3):c.*163C>A
|
rs886048366
|
|
NM_000256.3(MYBPC3):c.*230del
|
rs376645369
|
|
NM_000256.3(MYBPC3):c.*26+3A>G
|
rs886048369
|
|
NM_000256.3(MYBPC3):c.*327C>A
|
rs886048364
|
|
NM_000256.3(MYBPC3):c.*95G>T
|
rs886048368
|
|
NM_000256.3(MYBPC3):c.1458-9C>T
|
rs886048379
|
|
NM_000256.3(MYBPC3):c.2603-4C>A
|
rs886048377
|
|
NM_000256.3(MYBPC3):c.2603G>T (p.Gly868Val)
|
rs886048376
|
|
NM_000256.3(MYBPC3):c.2622C>A (p.Thr874=)
|
rs886048375
|
|
NM_000256.3(MYBPC3):c.2639A>C (p.Asp880Ala)
|
rs886048374
|
|
NM_000256.3(MYBPC3):c.2854C>G (p.Pro952Ala)
|
rs554694434
|
|
NM_000256.3(MYBPC3):c.2892G>T (p.Val964=)
|
rs886048372
|
|
NM_000256.3(MYBPC3):c.2905+7G>C
|
rs886048371
|
|
NM_000256.3(MYBPC3):c.3627+6G>T
|
rs886048370
|
|
NM_000256.3(MYBPC3):c.927-7G>T
|
rs886048381
|
|
NM_000257.4(MYH7):c.-39C>A
|
rs886050424
|
|
NM_000257.4(MYH7):c.-47G>T
|
rs886050425
|
|
NM_000257.4(MYH7):c.1671G>T (p.Leu557=)
|
rs149386750
|
|
NM_000257.4(MYH7):c.1755C>A (p.Ile585=)
|
rs201860580
|
|
NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr)
|
rs753137666
|
|
NM_000257.4(MYH7):c.3148C>A (p.Arg1050=)
|
rs730880767
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=)
|
rs529700838
|
|
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser)
|
rs574005462
|
|
NM_000257.4(MYH7):c.4169+6T>G
|
rs886050417
|
|
NM_000257.4(MYH7):c.449C>G (p.Ala150Gly)
|
rs879196018
|
|
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)
|
rs777053791
|
|
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr)
|
rs886050415
|
|
NM_000257.4(MYH7):c.658A>C (p.Ile220Leu)
|
rs779190577
|
|
NM_000257.4(MYH7):c.895+12C>A
|
rs186276057
|
|
NM_000335.5(SCN5A):c.*1443C>A
|
rs886058445
|
|
NM_000335.5(SCN5A):c.*1602G>T
|
rs886058444
|
|
NM_000335.5(SCN5A):c.*1691G>T
|
rs886058442
|
|
NM_000335.5(SCN5A):c.*1701G>T
|
rs886058441
|
|
NM_000335.5(SCN5A):c.*1705C>T
|
rs886058440
|
|
NM_000335.5(SCN5A):c.*1744C>G
|
rs886058439
|
|
NM_000335.5(SCN5A):c.*1836A>T
|
rs886058438
|
|
NM_000335.5(SCN5A):c.*1943C>A
|
rs569552176
|
|
NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1]
|
rs45592631
|
|
NM_000335.5(SCN5A):c.*2149G>A
|
rs114517792
|
|
NM_000335.5(SCN5A):c.*296G>A
|
rs886058456
|
|
NM_000335.5(SCN5A):c.*516G>T
|
rs886058454
|
|
NM_000335.5(SCN5A):c.*634C>A
|
rs886058453
|
|
NM_000335.5(SCN5A):c.*6G>T
|
rs776980213
|
|
NM_000335.5(SCN5A):c.*725C>A
|
rs886058451
|
|
NM_000335.5(SCN5A):c.*73C>A
|
rs886058458
|
|
NM_000335.5(SCN5A):c.*980C>A
|
rs886058449
|
|
NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile)
|
rs886058463
|
|
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe)
|
rs886058462
|
|
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn)
|
rs746291609
|
|
NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile)
|
rs774432823
|
|
NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu)
|
rs886058459
|
|
NM_000337.6(SGCD):c.*3918_*3921dup
|
rs886060303
|
|
NM_000337.6(SGCD):c.*4340_*4341dup
|
rs556887176
|
|
NM_000337.6(SGCD):c.*4341dup
|
rs556887176
|
|
NM_000337.6(SGCD):c.*6045A>G
|
rs886060312
|
|
NM_000337.6(SGCD):c.*6497dup
|
rs886060314
|
|
NM_000337.6(SGCD):c.*6644del
|
rs886060315
|
|
NM_000337.6(SGCD):c.*6660del
|
rs57240389
|
|
NM_000337.6(SGCD):c.*6660dup
|
rs57240389
|
|
NM_000337.6(SGCD):c.*6661del
|
rs886060317
|
|
NM_000337.6(SGCD):c.*8113_*8114dup
|
rs397736317
|
|
NM_000337.6(SGCD):c.*8114dup
|
rs397736317
|
|
NM_001006630.2(CHRM2):c.101G>T (p.Ser34Ile)
|
rs1805074915
|
|
NM_001006630.2(CHRM2):c.1020T>A (p.Thr340=)
|
rs764893658
|
|
NM_001006630.2(CHRM2):c.1020T>C (p.Thr340=)
|
|
|
NM_001006630.2(CHRM2):c.1021A>G (p.Asn341Asp)
|
|
|
NM_001006630.2(CHRM2):c.1031T>C (p.Val344Ala)
|
rs139037603
|
|
NM_001006630.2(CHRM2):c.1032G>T (p.Val344=)
|
|
|
NM_001006630.2(CHRM2):c.1036G>T (p.Val346Leu)
|
rs1455067791
|
|
NM_001006630.2(CHRM2):c.1054C>A (p.Gln352Lys)
|
|
|
NM_001006630.2(CHRM2):c.106G>T (p.Val36Leu)
|
|
|
NM_001006630.2(CHRM2):c.1074G>A (p.Gln358=)
|
rs747925877
|
|
NM_001006630.2(CHRM2):c.1074G>T (p.Gln358His)
|
rs747925877
|
|
NM_001006630.2(CHRM2):c.1087C>T (p.Arg363Cys)
|
|
|
NM_001006630.2(CHRM2):c.1107T>G (p.Thr369=)
|
|
|
NM_001006630.2(CHRM2):c.1135C>T (p.Pro379Ser)
|
rs36044268
|
|
NM_001006630.2(CHRM2):c.1140C>T (p.Ser380=)
|
|
|
NM_001006630.2(CHRM2):c.1141C>T (p.Arg381Trp)
|
|
|
NM_001006630.2(CHRM2):c.1142G>A (p.Arg381Gln)
|
rs1432230108
|
|
NM_001006630.2(CHRM2):c.1142G>T (p.Arg381Leu)
|
|
|
NM_001006630.2(CHRM2):c.1148A>G (p.Lys383Arg)
|
|
|
NM_001006630.2(CHRM2):c.116T>A (p.Ile39Asn)
|
|
|
NM_001006630.2(CHRM2):c.1203C>T (p.Ala401=)
|
rs2131136011
|
|
NM_001006630.2(CHRM2):c.120G>C (p.Gly40=)
|
|
|
NM_001006630.2(CHRM2):c.1243C>T (p.Pro415Ser)
|
rs1584929720
|
|
NM_001006630.2(CHRM2):c.1245T>G (p.Pro415=)
|
|
|
NM_001006630.2(CHRM2):c.1248C>G (p.Cys416Trp)
|
rs2131136215
|
|
NM_001006630.2(CHRM2):c.1259C>G (p.Thr420Ser)
|
rs758947846
|
|
NM_001006630.2(CHRM2):c.1263G>A (p.Val421=)
|
|
|
NM_001006630.2(CHRM2):c.1286G>C (p.Cys429Ser)
|
rs1805176312
|
|
NM_001006630.2(CHRM2):c.1303A>G (p.Ile435Val)
|
|
|
NM_001006630.2(CHRM2):c.1323A>T (p.Ala441=)
|
|
|
NM_001006630.2(CHRM2):c.1326T>C (p.Leu442=)
|
|
|
NM_001006630.2(CHRM2):c.1368G>T (p.Met456Ile)
|
rs139832815
|
|
NM_001006630.2(CHRM2):c.1372C>T (p.His458Tyr)
|
|
|
NM_001006630.2(CHRM2):c.1389C>A (p.Gly463=)
|
rs573795503
|
|
NM_001006630.2(CHRM2):c.1394C>T (p.Thr465Ile)
|
rs202195493
|
|
NM_001006630.2(CHRM2):c.171C>T (p.Val57=)
|
|
|
NM_001006630.2(CHRM2):c.17del (p.Asn6fs)
|
|
|
NM_001006630.2(CHRM2):c.180C>T (p.Tyr60=)
|
rs2131131055
|
|
NM_001006630.2(CHRM2):c.217G>A (p.Gly73Ser)
|
|
|
NM_001006630.2(CHRM2):c.219T>C (p.Gly73=)
|
|
|
NM_001006630.2(CHRM2):c.234C>T (p.Asn78=)
|
rs760006520
|
|
NM_001006630.2(CHRM2):c.247T>G (p.Tyr83Asp)
|
rs1192304125
|
|
NM_001006630.2(CHRM2):c.256A>G (p.Ile86Val)
|
|
|
NM_001006630.2(CHRM2):c.257T>C (p.Ile86Thr)
|
|
|
NM_001006630.2(CHRM2):c.2T>A (p.Met1Lys)
|
|
|
NM_001006630.2(CHRM2):c.348C>T (p.Ile116=)
|
|
|
NM_001006630.2(CHRM2):c.34C>T (p.Leu12=)
|
|
|
NM_001006630.2(CHRM2):c.351C>T (p.Ile117=)
|
|
|
NM_001006630.2(CHRM2):c.357T>C (p.Phe119=)
|
|
|
NM_001006630.2(CHRM2):c.385C>G (p.Leu129Val)
|
|
|
NM_001006630.2(CHRM2):c.403C>T (p.Arg135Trp)
|
|
|
NM_001006630.2(CHRM2):c.404G>A (p.Arg135Gln)
|
|
|
NM_001006630.2(CHRM2):c.415A>G (p.Met139Val)
|
|
|
NM_001006630.2(CHRM2):c.416T>A (p.Met139Lys)
|
rs757844531
|
|
NM_001006630.2(CHRM2):c.44C>A (p.Thr15Lys)
|
rs1805069679
|
|
NM_001006630.2(CHRM2):c.454T>G (p.Phe152Val)
|
rs2131132038
|
|
NM_001006630.2(CHRM2):c.457A>G (p.Ile153Val)
|
|
|
NM_001006630.2(CHRM2):c.486G>T (p.Trp162Cys)
|
rs2131132222
|
|
NM_001006630.2(CHRM2):c.501G>C (p.Gly167=)
|
|
|
NM_001006630.2(CHRM2):c.502G>A (p.Val168Met)
|
|
|
NM_001006630.2(CHRM2):c.532A>C (p.Ile178Leu)
|
|
|
NM_001006630.2(CHRM2):c.576T>C (p.Ile192=)
|
rs1293483630
|
|
NM_001006630.2(CHRM2):c.577G>A (p.Ala193Thr)
|
rs1805107459
|
|
NM_001006630.2(CHRM2):c.579A>C (p.Ala193=)
|
|
|
NM_001006630.2(CHRM2):c.594A>G (p.Pro198=)
|
rs558678081
|
|
NM_001006630.2(CHRM2):c.622C>T (p.His208Tyr)
|
rs1196291053
|
|
NM_001006630.2(CHRM2):c.629C>T (p.Ser210Phe)
|
rs1563128628
|
|
NM_001006630.2(CHRM2):c.638G>A (p.Ser213Asn)
|
|
|
NM_001006630.2(CHRM2):c.639C>T (p.Ser213=)
|
|
|
NM_001006630.2(CHRM2):c.645C>T (p.Ser215=)
|
rs2131132940
|
|
NM_001006630.2(CHRM2):c.652A>G (p.Lys218Glu)
|
rs2131132962
|
|
NM_001006630.2(CHRM2):c.652AAG[1] (p.Lys219del)
|
|
|
NM_001006630.2(CHRM2):c.673G>A (p.Val225Ile)
|
|
|
NM_001006630.2(CHRM2):c.692T>C (p.Val231Ala)
|
|
|
NM_001006630.2(CHRM2):c.709C>G (p.Gln237Glu)
|
|
|
NM_001006630.2(CHRM2):c.713G>C (p.Gly238Ala)
|
|
|
NM_001006630.2(CHRM2):c.716G>A (p.Arg239Lys)
|
|
|
NM_001006630.2(CHRM2):c.720A>G (p.Ile240Met)
|
rs1805119053
|
|
NM_001006630.2(CHRM2):c.727C>A (p.Pro243Thr)
|
|
|
NM_001006630.2(CHRM2):c.794C>T (p.Ala265Val)
|
rs1554437349
|
|
NM_001006630.2(CHRM2):c.829G>A (p.Gly277Arg)
|
|
|
NM_001006630.2(CHRM2):c.830G>A (p.Gly277Glu)
|
|
|
NM_001006630.2(CHRM2):c.874G>A (p.Val292Ile)
|
rs1805134418
|
|
NM_001006630.2(CHRM2):c.874_882del (p.Val292_Ser294del)
|
rs1454380573
|
|
NM_001006630.2(CHRM2):c.897T>C (p.Asp299=)
|
|
|
NM_001006630.2(CHRM2):c.8A>G (p.Asn3Ser)
|
|
|
NM_001006630.2(CHRM2):c.916A>C (p.Asn306His)
|
|
|
NM_001006630.2(CHRM2):c.927C>T (p.Ser309=)
|
rs770969121
|
|
NM_001006630.2(CHRM2):c.935T>A (p.Leu312Gln)
|
rs200017653
|
|
NM_001006630.2(CHRM2):c.943T>C (p.Ser315Pro)
|
|
|
NM_001006630.2(CHRM2):c.952G>A (p.Glu318Lys)
|
|
|
NM_001006630.2(CHRM2):c.954G>A (p.Glu318=)
|
rs1442558581
|
|
NM_001006630.2(CHRM2):c.991A>C (p.Thr331Pro)
|
rs146328962
|
|
NM_001018005.2(TPM1):c.*97CT[2]
|
rs886051321
|
|
NM_001042475.3(CEP85L):c.1020+5609_1020+5610del
|
rs141447190
|
|
NM_001042475.3(CEP85L):c.1020+6013_1020+6015del
|
rs765386927
|
|
NM_001103.4(ACTN2):c.-98CGCCGCC[2]
|
rs552471202
|
|
NM_001103.4(ACTN2):c.-98CGCCGCC[4]
|
rs552471202
|
|
NM_001103.4(ACTN2):c.1031A>C (p.Asn344Thr)
|
rs886046206
|
|
NM_001134363.3(RBM20):c.*1098dup
|
rs886046712
|
|
NM_001134363.3(RBM20):c.*2362_*2365del
|
rs745346028
|
|
NM_001134363.3(RBM20):c.*2442G>A
|
rs886046719
|
|
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)
|
rs397516593
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
NM_001267550.2(TTN):c.*99dup
|
rs11424072
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100766-10del
|
rs749872538
|
|
NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu)
|
rs886055226
|
|
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del)
|
rs771366227
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[7]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[8]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
NM_001267550.2(TTN):c.2758C>T (p.His920Tyr)
|
rs886055307
|
|
NM_001267550.2(TTN):c.30512-19dup
|
rs397517532
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
NM_001267550.2(TTN):c.44913+10dup
|
rs745700983
|
|
NM_001267550.2(TTN):c.46044A>C (p.Ser15348=)
|
rs886055273
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
NM_001267550.2(TTN):c.5953A>G (p.Ile1985Val)
|
rs886055303
|
|
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del)
|
rs886055257
|
|
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu)
|
rs886055251
|
|
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=)
|
rs760755965
|
|
NM_001267550.2(TTN):c.915-7dup
|
rs730880351
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=)
|
rs886055227
|
|
NM_001276345.2(TNNT2):c.-22G>T
|
rs886045829
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
NM_001276345.2(TNNT2):c.53-11_53-7del
|
rs45533739
|
|
NM_001330.5(CTF1):c.*909C>G
|
rs886051929
|
|
NM_001330.5(CTF1):c.*981dup
|
rs886051931
|
|
NM_001330.5(CTF1):c.101C>T (p.Ala34Val)
|
|
|
NM_001330.5(CTF1):c.103C>A (p.His35Asn)
|
|
|
NM_001330.5(CTF1):c.111C>T (p.Leu37=)
|
|
|
NM_001330.5(CTF1):c.121G>T (p.Ala41Ser)
|
rs149342494
|
|
NM_001330.5(CTF1):c.130C>G (p.Leu44Val)
|
|
|
NM_001330.5(CTF1):c.145-7T>A
|
|
|
NM_001330.5(CTF1):c.158G>A (p.Gly53Glu)
|
|
|
NM_001330.5(CTF1):c.162C>A (p.Asp54Glu)
|
|
|
NM_001330.5(CTF1):c.183C>A (p.Phe61Leu)
|
|
|
NM_001330.5(CTF1):c.184T>A (p.Ser62Thr)
|
rs2143244270
|
|
NM_001330.5(CTF1):c.207C>T (p.Ala69=)
|
rs1567331191
|
|
NM_001330.5(CTF1):c.211C>A (p.Leu71Met)
|
|
|
NM_001330.5(CTF1):c.224C>T (p.Ala75Val)
|
rs1385458236
|
|
NM_001330.5(CTF1):c.235G>A (p.Ala79Thr)
|
|
|
NM_001330.5(CTF1):c.238G>A (p.Gly80Arg)
|
rs1421511267
|
|
NM_001330.5(CTF1):c.246A>C (p.Pro82=)
|
rs2143244820
|
|
NM_001330.5(CTF1):c.250C>T (p.His84Tyr)
|
|
|
NM_001330.5(CTF1):c.252C>G (p.His84Gln)
|
|
|
NM_001330.5(CTF1):c.253G>A (p.Glu85Lys)
|
rs1489208133
|
|
NM_001330.5(CTF1):c.253G>T (p.Glu85Ter)
|
|
|
NM_001330.5(CTF1):c.26-13C>A
|
|
|
NM_001330.5(CTF1):c.26-13C>G
|
|
|
NM_001330.5(CTF1):c.26-13C>T
|
rs200729865
|
|
NM_001330.5(CTF1):c.26-15C>T
|
rs2143233159
|
|
NM_001330.5(CTF1):c.26-17C>G
|
|
|
NM_001330.5(CTF1):c.26-17C>T
|
|
|
NM_001330.5(CTF1):c.26-1G>A
|
rs1303838927
|
|
NM_001330.5(CTF1):c.263G>T (p.Arg88Leu)
|
|
|
NM_001330.5(CTF1):c.26A>C (p.Glu9Ala)
|
|
|
NM_001330.5(CTF1):c.283_291dup (p.Leu97_Pro98insAlaAlaLeu)
|
|
|
NM_001330.5(CTF1):c.283_297dup (p.Ala95_Pro99dup)
|
rs1419475331
|
|
NM_001330.5(CTF1):c.285C>T (p.Ala95=)
|
|
|
NM_001330.5(CTF1):c.287C>A (p.Ala96Glu)
|
rs974196158
|
|
NM_001330.5(CTF1):c.291G>T (p.Leu97=)
|
|
|
NM_001330.5(CTF1):c.292C>G (p.Pro98Ala)
|
|
|
NM_001330.5(CTF1):c.293C>T (p.Pro98Leu)
|
rs1567331279
|
|
NM_001330.5(CTF1):c.295C>G (p.Pro99Ala)
|
|
|
NM_001330.5(CTF1):c.304G>C (p.Asp102His)
|
|
|
NM_001330.5(CTF1):c.306C>T (p.Asp102=)
|
|
|
NM_001330.5(CTF1):c.311T>C (p.Val104Ala)
|
rs1367415789
|
|
NM_001330.5(CTF1):c.316C>T (p.Arg106Cys)
|
|
|
NM_001330.5(CTF1):c.317del (p.Arg106fs)
|
|
|
NM_001330.5(CTF1):c.32C>G (p.Pro11Arg)
|
rs1043291296
|
|
NM_001330.5(CTF1):c.332T>C (p.Leu111Pro)
|
|
|
NM_001330.5(CTF1):c.337C>A (p.Pro113Thr)
|
|
|
NM_001330.5(CTF1):c.342C>G (p.Arg114=)
|
|
|
NM_001330.5(CTF1):c.345_346delinsAA (p.Pro116Thr)
|
rs1555485191
|
|
NM_001330.5(CTF1):c.345_346dup (p.Pro116fs)
|
rs1167643962
|
|
NM_001330.5(CTF1):c.346_375del (p.Pro116_Ala125del)
|
rs2055408775
|
|
NM_001330.5(CTF1):c.347C>G (p.Pro116Arg)
|
rs886051924
|
|
NM_001330.5(CTF1):c.347C>T (p.Pro116Leu)
|
|
|
NM_001330.5(CTF1):c.356T>G (p.Leu119Arg)
|
rs2055409233
|
|
NM_001330.5(CTF1):c.356_404del (p.Leu119fs)
|
|
|
NM_001330.5(CTF1):c.358C>T (p.Arg120Cys)
|
rs2055409271
|
|
NM_001330.5(CTF1):c.363C>A (p.Arg121=)
|
|
|
NM_001330.5(CTF1):c.364C>G (p.Leu122Val)
|
|
|
NM_001330.5(CTF1):c.364C>T (p.Leu122=)
|
rs1384722765
|
|
NM_001330.5(CTF1):c.372C>G (p.Asp124Glu)
|
rs2143246245
|
|
NM_001330.5(CTF1):c.37A>G (p.Thr13Ala)
|
rs2143233389
|
|
NM_001330.5(CTF1):c.386C>T (p.Ala129Val)
|
|
|
NM_001330.5(CTF1):c.388C>G (p.Arg130Gly)
|
|
|
NM_001330.5(CTF1):c.391G>A (p.Ala131Thr)
|
|
|
NM_001330.5(CTF1):c.399C>A (p.Gly133=)
|
rs1596639693
|
|
NM_001330.5(CTF1):c.402C>T (p.Ala134=)
|
|
|
NM_001330.5(CTF1):c.413C>A (p.Ala138Asp)
|
|
|
NM_001330.5(CTF1):c.420G>T (p.Leu140=)
|
|
|
NM_001330.5(CTF1):c.426G>A (p.Ala142=)
|
rs1320065665
|
|
NM_001330.5(CTF1):c.426G>T (p.Ala142=)
|
rs1320065665
|
|
NM_001330.5(CTF1):c.429G>A (p.Leu143=)
|
|
|
NM_001330.5(CTF1):c.443G>A (p.Arg148His)
|
|
|
NM_001330.5(CTF1):c.446_457dup (p.Gly149_Ala152dup)
|
rs1231514239
|
|
NM_001330.5(CTF1):c.447G>T (p.Gly149=)
|
|
|
NM_001330.5(CTF1):c.452_463dup (p.Pro154_Pro155insArgAlaGluPro)
|
|
|
NM_001330.5(CTF1):c.456C>T (p.Ala152=)
|
|
|
NM_001330.5(CTF1):c.457G>A (p.Glu153Lys)
|
rs1360227777
|
|
NM_001330.5(CTF1):c.460C>T (p.Pro154Ser)
|
|
|
NM_001330.5(CTF1):c.463_465dup (p.Pro155dup)
|
rs1218236539
|
|
NM_001330.5(CTF1):c.464C>G (p.Pro155Arg)
|
|
|
NM_001330.5(CTF1):c.465C>A (p.Pro155=)
|
|
|
NM_001330.5(CTF1):c.465dup (p.Ala156fs)
|
rs1218236539
|
|
NM_001330.5(CTF1):c.466_486dup (p.Ala156_Ala162dup)
|
rs1555485213
|
|
NM_001330.5(CTF1):c.473C>A (p.Thr158Asn)
|
rs2143247242
|
|
NM_001330.5(CTF1):c.474C>A (p.Thr158=)
|
rs1217608616
|
|
NM_001330.5(CTF1):c.475G>T (p.Ala159Ser)
|
rs1377343246
|
|
NM_001330.5(CTF1):c.495C>T (p.Thr165=)
|
rs2143247498
|
|
NM_001330.5(CTF1):c.498G>A (p.Gly166=)
|
|
|
NM_001330.5(CTF1):c.502_504del (p.Phe168del)
|
|
|
NM_001330.5(CTF1):c.503dup (p.Ala170fs)
|
rs1382940759
|
|
NM_001330.5(CTF1):c.508G>A (p.Ala170Thr)
|
|
|
NM_001330.5(CTF1):c.510C>T (p.Ala170=)
|
rs2143247725
|
|
NM_001330.5(CTF1):c.526C>T (p.Arg176Cys)
|
|
|
NM_001330.5(CTF1):c.536G>A (p.Gly179Asp)
|
rs1375739909
|
|
NM_001330.5(CTF1):c.537C>T (p.Gly179=)
|
|
|
NM_001330.5(CTF1):c.544C>A (p.Arg182Ser)
|
|
|
NM_001330.5(CTF1):c.549G>T (p.Glu183Asp)
|
|
|
NM_001330.5(CTF1):c.551G>A (p.Trp184Ter)
|
|
|
NM_001330.5(CTF1):c.555G>A (p.Leu185=)
|
rs2143248137
|
|
NM_001330.5(CTF1):c.560G>A (p.Arg187His)
|
|
|
NM_001330.5(CTF1):c.565G>T (p.Glu189Ter)
|
rs1202428159
|
|
NM_001330.5(CTF1):c.566A>C (p.Glu189Ala)
|
|
|
NM_001330.5(CTF1):c.571G>C (p.Asp191His)
|
rs2055413651
|
|
NM_001330.5(CTF1):c.574C>G (p.Leu192Val)
|
rs2143248393
|
|
NM_001330.5(CTF1):c.578G>A (p.Gly193Asp)
|
|
|
NM_001330.5(CTF1):c.584TGC[3] (p.Leu196dup)
|
rs2055413929
|
|
NM_001330.5(CTF1):c.588G>C (p.Leu196=)
|
|
|
NM_001330.5(CTF1):c.588G>T (p.Leu196=)
|
rs761082716
|
|
NM_001330.5(CTF1):c.589C>A (p.Pro197Thr)
|
rs1034195402
|
|
NM_001330.5(CTF1):c.590C>T (p.Pro197Leu)
|
|
|
NM_001330.5(CTF1):c.591C>A (p.Pro197=)
|
|
|
NM_001330.5(CTF1):c.591C>T (p.Pro197=)
|
rs397516652
|
|
NM_001330.5(CTF1):c.594G>T (p.Gly198=)
|
rs1443088980
|
|
NM_001330.5(CTF1):c.600G>A (p.Ser200=)
|
rs1026759136
|
|
NM_001330.5(CTF1):c.64C>G (p.His22Asp)
|
|
|
NM_001330.5(CTF1):c.75C>A (p.Ala25=)
|
|
|
NM_001330.5(CTF1):c.86_88del (p.Gln29_Thr30delinsPro)
|
rs2055382935
|
|
NM_001330.5(CTF1):c.91C>T (p.His31Tyr)
|
|
|
NM_001368067.1(LDB3):c.456G>T (p.Ala152=)
|
rs371708921
|
|
NM_001458.5(FLNC):c.3039C>A (p.Cys1013Ter)
|
rs1554399014
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001943.4(DSG2):c.-153dup
|
rs886053708
|
|
NM_001943.5(DSG2):c.*1012C>T
|
rs886053733
|
|
NM_001943.5(DSG2):c.*1450G>A
|
rs886053734
|
|
NM_001943.5(DSG2):c.*1473G>T
|
rs886053735
|
|
NM_001943.5(DSG2):c.*1786G>T
|
rs886053737
|
|
NM_001943.5(DSG2):c.*25del
|
rs886053717
|
|
NM_001943.5(DSG2):c.*351C>A
|
rs886053720
|
|
NM_001943.5(DSG2):c.*419G>T
|
rs552933757
|
|
NM_001943.5(DSG2):c.*874C>T
|
rs886053728
|
|
NM_001943.5(DSG2):c.*932_*933insA
|
rs886053730
|
|
NM_001943.5(DSG2):c.*944del
|
rs368604939
|
|
NM_001943.5(DSG2):c.*944dup
|
rs368604939
|
|
NM_001943.5(DSG2):c.-44C>A
|
rs886053710
|
|
NM_001943.5(DSG2):c.-4T>G
|
rs886053711
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
NM_001943.5(DSG2):c.828+10A>C
|
rs886053712
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
NM_002471.4(MYH6):c.3979-8dup
|
rs193922652
|
|
NM_002471.4(MYH6):c.675C>T (p.Asn225=)
|
rs886050413
|
|
NM_003476.4(CSRP3):c.-161delG
|
rs138573509
|
|
NM_003476.4(CSRP3):c.-162_-161AG[6]
|
rs886048098
|
|
NM_003476.4(CSRP3):c.-180delA
|
rs34865888
|
|
NM_003476.4(CSRP3):c.-182delT
|
rs886048103
|
|
NM_004100.5(EYA4):c.*1142del
|
rs886061091
|
|
NM_004100.5(EYA4):c.*2479del
|
rs886061095
|
|
NM_004100.5(EYA4):c.*737dup
|
rs749389761
|
|
NM_004100.5(EYA4):c.-227dup
|
rs138964393
|
|
NM_004100.5(EYA4):c.580+14_580+16del
|
rs139659489
|
|
NM_004281.4(BAG3):c.*240GTT[1]
|
rs3981124
|
|
NM_004281.4(BAG3):c.*306_*307del
|
rs796515184
|
|
NM_004281.4(BAG3):c.1298A>G (p.Gln433Arg)
|
rs886046755
|
|
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)
|
rs139438727
|
|
NM_005159.4(ACTC1):c.*1062G>A
|
rs886051072
|
|
NM_005159.4(ACTC1):c.*1070A>C
|
rs886051071
|
|
NM_005159.4(ACTC1):c.*1115A>T
|
rs886051069
|
|
NM_005159.4(ACTC1):c.*1482G>T
|
rs886051066
|
|
NM_005159.4(ACTC1):c.*1502G>T
|
rs886051065
|
|
NM_005159.4(ACTC1):c.*1753G>T
|
rs886051064
|
|
NM_005159.4(ACTC1):c.*1797C>A
|
rs886051063
|
|
NM_005159.4(ACTC1):c.*2168G>T
|
rs886051061
|
|
NM_005159.4(ACTC1):c.*224G>C
|
rs551820554
|
|
NM_005159.4(ACTC1):c.*247G>A
|
rs886051088
|
|
NM_005159.4(ACTC1):c.*284G>A
|
rs886051087
|
|
NM_005159.4(ACTC1):c.*307T>A
|
rs886051086
|
|
NM_005159.4(ACTC1):c.*422T>A
|
rs886051084
|
|
NM_005159.4(ACTC1):c.*561C>A
|
rs886051083
|
|
NM_005159.4(ACTC1):c.*643C>A
|
rs886051081
|
|
NM_005159.4(ACTC1):c.*646C>A
|
rs886051080
|
|
NM_005159.4(ACTC1):c.*674C>A
|
rs886051079
|
|
NM_005159.4(ACTC1):c.*708G>T
|
rs886051077
|
|
NM_005159.4(ACTC1):c.*739G>T
|
rs886051076
|
|
NM_005159.4(ACTC1):c.*775C>A
|
rs886051075
|
|
NM_005159.4(ACTC1):c.*935G>T
|
rs766542832
|
|
NM_005159.4(ACTC1):c.-101G>T
|
rs886051095
|
|
NM_005159.4(ACTC1):c.-105C>A
|
rs886051096
|
|
NM_005159.4(ACTC1):c.-175C>A
|
rs886051098
|
|
NM_005159.4(ACTC1):c.-194C>A
|
rs886051099
|
|
NM_005159.5(ACTC1):c.-55C>A
|
rs886051093
|
|
NM_005159.5(ACTC1):c.-55CCG[3]
|
rs886051092
|
|
NM_005159.5(ACTC1):c.809-12_809-11insGT
|
rs774238821
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[25]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.978C>A (p.Thr326=)
|
rs886051089
|
|
NM_005572.3(LMNA):c.-225C>A
|
rs886045355
|
|
NM_007078.3(LDB3):c.690-4618C>A
|
rs764620834
|
|
NM_014000.3(VCL):c.*145del
|
rs756151016
|
|
NM_014000.3(VCL):c.*1665_*1669dup
|
rs886047227
|
|
NM_014000.3(VCL):c.*1705AAGA[3]
|
rs1554820063
|
|
NM_014000.3(VCL):c.*1841_*1842insA
|
rs886047231
|
|
NM_014000.3(VCL):c.*1841_*1842insAA
|
rs886047231
|
|
NM_014000.3(VCL):c.*1860_*1862dup
|
rs3037361
|
|
NM_014000.3(VCL):c.*1861_*1862dup
|
rs3037361
|
|
NM_014000.3(VCL):c.*353CT[1]
|
rs144115212
|
|
NM_014000.3(VCL):c.*709del
|
rs886047223
|
|
NM_014000.3(VCL):c.*990_*991dup
|
rs397804906
|
|
NM_014391.3(ANKRD1):c.*203TTTA[2]
|
rs143761686
|
|
NM_014391.3(ANKRD1):c.*544_*548del
|
rs886047478
|
|
NM_014391.3(ANKRD1):c.*566_*574del
|
rs71025330
|
|
NM_014391.3(ANKRD1):c.*570_*574dup
|
rs71025330
|
|
NM_014391.3(ANKRD1):c.*571_*574dup
|
rs71025330
|
|
NM_014391.3(ANKRD1):c.346-12_346-11insTATA
|
rs766545285
|
|
NM_014391.3(ANKRD1):c.346-15_346-14del
|
rs794728971
|
|
NM_014391.3(ANKRD1):c.346-17_346-10del
|
rs397517250
|
|
NM_014391.3(ANKRD1):c.346-21ATTT[2]
|
rs397517250
|
|
NM_014391.3(ANKRD1):c.346-29_346-12del
|
rs72003210
|
|
NM_014391.3(ANKRD1):c.346-43AT[13]
|
rs60406118
|
|
NM_014391.3(ANKRD1):c.652-13del
|
rs3839929
|
|
NM_020297.4(ABCC9):c.1165-4del
|
rs886049172
|
|
NM_020297.4(ABCC9):c.1165-6del
|
rs35857705
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
NM_020297.4(ABCC9):c.1165-7_1165-6del
|
rs35857705
|
|
NM_020297.4(ABCC9):c.2238-16del
|
rs886049170
|
|
NM_020297.4(ABCC9):c.2238-17del
|
rs4148670
|
|
NM_144573.3(NEXN):c.-212_-210GGC[7]
|
rs528439602
|
|
NM_144573.4(NEXN):c.*418del
|
rs368295679
|
|
NM_144573.4(NEXN):c.*418dup
|
rs368295679
|
|
NM_144573.4(NEXN):c.*4CT[1]
|
rs553696163
|
|
NM_170707.4(LMNA):c.-142C>A
|
rs886045358
|
|
NM_170707.4(LMNA):c.-183C>A
|
rs886045357
|
|
NM_170707.4(LMNA):c.-5C>A
|
rs886045362
|
|
NM_170707.4(LMNA):c.-62C>A
|
rs886045361
|
|
NM_170707.4(LMNA):c.1698+124C>T
|
rs1057516022
|
|
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)
|
rs775159300
|
|
NM_201550.4(LRRC10):c.124C>G (p.Arg42Gly)
|
|
|
NM_201550.4(LRRC10):c.124C>T (p.Arg42Cys)
|
|
|
NM_201550.4(LRRC10):c.125G>C (p.Arg42Pro)
|
rs746667362
|
|
NM_201550.4(LRRC10):c.128G>A (p.Arg43His)
|
|
|
NM_201550.4(LRRC10):c.129C>T (p.Arg43=)
|
|
|
NM_201550.4(LRRC10):c.135C>A (p.Pro45=)
|
rs778318582
|
|
NM_201550.4(LRRC10):c.135C>T (p.Pro45=)
|
|
|
NM_201550.4(LRRC10):c.137T>C (p.Leu46Pro)
|
|
|
NM_201550.4(LRRC10):c.141C>A (p.His47Gln)
|
rs373230856
|
|
NM_201550.4(LRRC10):c.150C>T (p.Ser50=)
|
|
|
NM_201550.4(LRRC10):c.175C>T (p.Leu59=)
|
|
|
NM_201550.4(LRRC10):c.181G>A (p.Asp61Asn)
|
|
|
NM_201550.4(LRRC10):c.181G>C (p.Asp61His)
|
rs775173428
|
|
NM_201550.4(LRRC10):c.183C>A (p.Asp61Glu)
|
|
|
NM_201550.4(LRRC10):c.186C>T (p.Asn62=)
|
|
|
NM_201550.4(LRRC10):c.194A>G (p.Asn65Ser)
|
|
|
NM_201550.4(LRRC10):c.222A>G (p.Leu74=)
|
|
|
NM_201550.4(LRRC10):c.239T>C (p.Leu80Pro)
|
rs1196312346
|
|
NM_201550.4(LRRC10):c.240G>A (p.Leu80=)
|
rs753853282
|
|
NM_201550.4(LRRC10):c.240G>T (p.Leu80=)
|
|
|
NM_201550.4(LRRC10):c.249T>C (p.Asp83=)
|
|
|
NM_201550.4(LRRC10):c.257A>G (p.Asn86Ser)
|
|
|
NM_201550.4(LRRC10):c.270G>A (p.Leu90=)
|
|
|
NM_201550.4(LRRC10):c.281_294del (p.Val94fs)
|
|
|
NM_201550.4(LRRC10):c.296A>G (p.Gln99Arg)
|
|
|
NM_201550.4(LRRC10):c.313C>A (p.Leu105Met)
|
|
|
NM_201550.4(LRRC10):c.334G>A (p.Asp112Asn)
|
|
|
NM_201550.4(LRRC10):c.367C>T (p.Leu123Phe)
|
|
|
NM_201550.4(LRRC10):c.385G>A (p.Glu129Lys)
|
|
|
NM_201550.4(LRRC10):c.396C>T (p.Cys132=)
|
|
|
NM_201550.4(LRRC10):c.401C>T (p.Thr134Ile)
|
|
|
NM_201550.4(LRRC10):c.408G>A (p.Leu136=)
|
rs2135869207
|
|
NM_201550.4(LRRC10):c.410C>T (p.Pro137Leu)
|
|
|
NM_201550.4(LRRC10):c.456C>T (p.Gly152=)
|
|
|
NM_201550.4(LRRC10):c.469C>A (p.Arg157Ser)
|
rs201257055
|
|
NM_201550.4(LRRC10):c.469C>T (p.Arg157Cys)
|
rs201257055
|
|
NM_201550.4(LRRC10):c.46C>T (p.Arg16Cys)
|
|
|
NM_201550.4(LRRC10):c.47G>A (p.Arg16His)
|
rs746225380
|
|
NM_201550.4(LRRC10):c.480A>C (p.Pro160=)
|
|
|
NM_201550.4(LRRC10):c.490C>T (p.Arg164Trp)
|
|
|
NM_201550.4(LRRC10):c.505C>T (p.Leu169=)
|
rs2135869126
|
|
NM_201550.4(LRRC10):c.50G>C (p.Cys17Ser)
|
|
|
NM_201550.4(LRRC10):c.510G>T (p.Arg170Ser)
|
|
|
NM_201550.4(LRRC10):c.516C>G (p.Ile172Met)
|
rs2135869114
|
|
NM_201550.4(LRRC10):c.520C>G (p.Leu174Val)
|
|
|
NM_201550.4(LRRC10):c.524C>T (p.Ser175Leu)
|
|
|
NM_201550.4(LRRC10):c.537_540del (p.Asp181fs)
|
rs944526586
|
|
NM_201550.4(LRRC10):c.553G>A (p.Val185Met)
|
|
|
NM_201550.4(LRRC10):c.555G>C (p.Val185=)
|
|
|
NM_201550.4(LRRC10):c.564C>A (p.His188Gln)
|
rs1593107542
|
|
NM_201550.4(LRRC10):c.565A>G (p.Met189Val)
|
|
|
NM_201550.4(LRRC10):c.576G>C (p.Leu192=)
|
rs2135869032
|
|
NM_201550.4(LRRC10):c.579G>A (p.Glu193=)
|
|
|
NM_201550.4(LRRC10):c.596G>C (p.Trp199Ser)
|
rs1593107499
|
|
NM_201550.4(LRRC10):c.612C>G (p.Tyr204Ter)
|
rs2135868999
|
|
NM_201550.4(LRRC10):c.615C>A (p.Phe205Leu)
|
|
|
NM_201550.4(LRRC10):c.626C>A (p.Ala209Glu)
|
rs773536861
|
|
NM_201550.4(LRRC10):c.62T>G (p.Val21Gly)
|
|
|
NM_201550.4(LRRC10):c.631C>G (p.Leu211Val)
|
|
|
NM_201550.4(LRRC10):c.631C>T (p.Leu211=)
|
rs1412985237
|
|
NM_201550.4(LRRC10):c.635C>T (p.Ser212Leu)
|
rs2135868960
|
|
NM_201550.4(LRRC10):c.636A>G (p.Ser212=)
|
|
|
NM_201550.4(LRRC10):c.647T>A (p.Leu216Gln)
|
|
|
NM_201550.4(LRRC10):c.647T>G (p.Leu216Arg)
|
rs1555198944
|
|
NM_201550.4(LRRC10):c.652A>G (p.Ile218Val)
|
rs1882347534
|
|
NM_201550.4(LRRC10):c.670T>C (p.Cys224Arg)
|
|
|
NM_201550.4(LRRC10):c.700G>A (p.Val234Met)
|
|
|
NM_201550.4(LRRC10):c.704G>C (p.Arg235Pro)
|
rs538939242
|
|
NM_201550.4(LRRC10):c.708T>G (p.Arg236=)
|
|
|
NM_201550.4(LRRC10):c.710T>C (p.Val237Ala)
|
|
|
NM_201550.4(LRRC10):c.718T>C (p.Trp240Arg)
|
|
|
NM_201550.4(LRRC10):c.731C>T (p.Thr244Met)
|
|
|
NM_201550.4(LRRC10):c.733C>T (p.Pro245Ser)
|
|
|
NM_201550.4(LRRC10):c.735del (p.Glu246fs)
|
|
|
NM_201550.4(LRRC10):c.75C>T (p.Leu25=)
|
|
|
NM_201550.4(LRRC10):c.762C>T (p.Arg254=)
|
rs1555198926
|
|
NM_201550.4(LRRC10):c.798G>C (p.Gln266His)
|
|
|
NM_201550.4(LRRC10):c.803C>T (p.Pro268Leu)
|
|
|
NM_201550.4(LRRC10):c.805G>A (p.Val269Ile)
|
|
|
NM_201550.4(LRRC10):c.80A>G (p.Glu27Gly)
|
rs2135869598
|
|
NM_201550.4(LRRC10):c.813A>C (p.Leu271=)
|
rs550818805
|
|
NM_201550.4(LRRC10):c.827A>T (p.Asn276Ile)
|
|
|