NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_014000.3(VCL):c.2828_2829del (p.Pro943fs)
|
rs781036800
|
0.00014
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)
|
rs587782962
|
0.00008
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_000169.3(GLA):c.640-801G>A
|
rs199473684
|
0.00005
|
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)
|
rs727503195
|
0.00005
|
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)
|
rs375675796
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
|
rs372827156
|
0.00005
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
NM_001267550.2(TTN):c.1800+1G>A
|
rs397517497
|
0.00005
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
NM_000256.3(MYBPC3):c.3330+2T>G
|
rs387906397
|
0.00004
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
|
rs397516347
|
0.00004
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_001005242.3(PKP2):c.2357+1G>A
|
rs111517471
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)
|
rs397515907
|
0.00003
|
NM_000256.3(MYBPC3):c.1624+4A>T
|
rs397515916
|
0.00003
|
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)
|
rs397516005
|
0.00003
|
NM_000256.3(MYBPC3):c.927-2A>G
|
rs397516082
|
0.00003
|
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg)
|
rs121913632
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)
|
rs45611033
|
0.00003
|
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)
|
rs727503278
|
0.00003
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)
|
rs104894503
|
0.00003
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile)
|
rs397516686
|
0.00003
|
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)
|
rs727503381
|
0.00003
|
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)
|
rs397507525
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)
|
rs397515963
|
0.00002
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)
|
rs387907267
|
0.00002
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
NM_000256.3(MYBPC3):c.927-9G>A
|
rs397516083
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00002
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser)
|
rs730881097
|
0.00002
|
NM_001289808.2(CRYAB):c.325-2A>G
|
rs202024436
|
0.00002
|
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)
|
rs111033560
|
0.00002
|
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)
|
rs28935197
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
NM_000256.3(MYBPC3):c.2490dup (p.His831fs)
|
rs397515966
|
0.00001
|
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn)
|
rs727503185
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000256.3(MYBPC3):c.3190+1G>A
|
rs111683277
|
0.00001
|
NM_000256.3(MYBPC3):c.3190+2T>G
|
rs113358486
|
0.00001
|
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs)
|
rs397516008
|
0.00001
|
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter)
|
rs397516010
|
0.00001
|
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)
|
rs121909377
|
0.00001
|
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter)
|
rs193922383
|
0.00001
|
NM_000256.3(MYBPC3):c.3491-2A>T
|
rs397516022
|
0.00001
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)
|
rs727503166
|
0.00001
|
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)
|
rs397516042
|
0.00001
|
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs)
|
rs397516049
|
0.00001
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)
|
rs148808089
|
0.00001
|
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)
|
rs121913625
|
0.00001
|
NM_000257.4(MYH7):c.1358G>A (p.Arg453His)
|
rs397516101
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
NM_000257.4(MYH7):c.1700G>A (p.Arg567His)
|
rs377491278
|
0.00001
|
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)
|
rs121913626
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)
|
rs727504239
|
0.00001
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)
|
rs121913637
|
0.00001
|
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)
|
rs397516157
|
0.00001
|
NM_000257.4(MYH7):c.2573G>A (p.Arg858His)
|
rs2856897
|
0.00001
|
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)
|
rs36211715
|
0.00001
|
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu)
|
rs397516160
|
0.00001
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
0.00001
|
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)
|
rs267606908
|
0.00001
|
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)
|
rs121913631
|
0.00001
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)
|
rs397516202
|
0.00001
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000257.4(MYH7):c.728G>A (p.Arg243His)
|
rs267606910
|
0.00001
|
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu)
|
rs121913633
|
0.00001
|
NM_000258.3(MYL3):c.281G>A (p.Arg94His)
|
rs199474703
|
0.00001
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)
|
rs45546039
|
0.00001
|
NM_000363.5(TNNI3):c.12-1G>T
|
rs397516340
|
0.00001
|
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)
|
rs104894724
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)
|
rs397516357
|
0.00001
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
|
rs267607161
|
0.00001
|
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)
|
rs104894369
|
0.00001
|
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)
|
rs397516986
|
0.00001
|
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)
|
rs397517012
|
0.00001
|
NM_001005242.3(PKP2):c.533dup (p.His179fs)
|
rs769220833
|
0.00001
|
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)
|
rs199476316
|
0.00001
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
NM_001256850.1(TTN):c.51809dup (p.Asp17270fs)
|
rs397517626
|
0.00001
|
NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)
|
rs991187915
|
0.00001
|
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter)
|
rs727504499
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)
|
rs397517580
|
0.00001
|
NM_001267550.2(TTN):c.57995del (p.His19332fs)
|
rs397517633
|
0.00001
|
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)
|
rs974671846
|
0.00001
|
NM_001267550.2(TTN):c.72669del (p.Asp24224fs)
|
rs727504531
|
0.00001
|
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)
|
rs727505284
|
0.00001
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)
|
rs397516455
|
0.00001
|
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)
|
rs397516456
|
0.00001
|
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)
|
rs121964856
|
0.00001
|
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)
|
rs727504331
|
0.00001
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
NM_001276345.2(TNNT2):c.823C>T (p.Arg275Ter)
|
rs748970759
|
0.00001
|
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)
|
rs727504247
|
0.00001
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
NM_001927.4(DES):c.600del (p.Lys201fs)
|
rs727504448
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_001943.5(DSG2):c.523+2T>C
|
rs397516709
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)
|
rs397507504
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003319.4(TTN):c.16349dup (p.Phe5451fs)
|
rs752856716
|
0.00001
|
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)
|
rs104894655
|
0.00001
|
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)
|
rs387906875
|
0.00001
|
NM_004415.4(DSP):c.2436+2T>C
|
rs774514264
|
0.00001
|
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs)
|
rs1554108287
|
0.00001
|
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)
|
rs397516940
|
0.00001
|
NM_004415.4(DSP):c.939+1G>A
|
rs727504443
|
0.00001
|
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)
|
rs193922680
|
0.00001
|
NM_005188.4(CBL):c.1096-1G>T
|
rs397517076
|
0.00001
|
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)
|
rs869025189
|
0.00001
|
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)
|
rs869025196
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_014000.3(VCL):c.1713del (p.Ala573fs)
|
rs779488376
|
0.00001
|
NM_014000.3(VCL):c.562C>T (p.Arg188Ter)
|
rs397517244
|
0.00001
|
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)
|
rs121908987
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)
|
rs397517889
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_170707.4(LMNA):c.356+1G>C
|
rs794728589
|
0.00001
|
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)
|
rs794728591
|
0.00001
|
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)
|
rs60682848
|
0.00001
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
NM_170707.4(LMNA):c.768G>A (p.Val256=)
|
rs794728593
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NC_000023.10:g.(?_153640181)_(153641904_?)del
|
|
|
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter)
|
rs397515738
|
|
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg)
|
rs397515740
|
|
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu)
|
rs397515741
|
|
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)
|
rs397515739
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val)
|
rs727504431
|
|
NM_000116.5(TAFAZZIN):c.700-1G>A
|
rs397515747
|
|
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs)
|
rs727504394
|
|
NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg)
|
rs387907218
|
|
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
|
rs397515750
|
|
NM_000152.5(GAA):c.2481+110_2646+39del
|
rs1598592604
|
|
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)
|
rs727504348
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000256.3(MYBPC3):c.(?_26)_(1090_?)del
|
|
|
NM_000256.3(MYBPC3):c.(?_2906)_(3627_?)del
|
|
|
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter)
|
rs573916965
|
|
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs)
|
rs730880336
|
|
NM_000256.3(MYBPC3):c.1075G>T (p.Glu359Ter)
|
rs876657702
|
|
NM_000256.3(MYBPC3):c.1090+1G>A
|
rs727504269
|
|
NM_000256.3(MYBPC3):c.1090+1G>T
|
rs727504269
|
|
NM_000256.3(MYBPC3):c.1156G>T (p.Glu386Ter)
|
rs397515888
|
|
NM_000256.3(MYBPC3):c.1168del (p.His390fs)
|
rs397515889
|
|
NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter)
|
rs727504329
|
|
NM_000256.3(MYBPC3):c.1224-2A>G
|
rs397515891
|
|
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer)
|
rs397515894
|
|
NM_000256.3(MYBPC3):c.1273C>T (p.Gln425Ter)
|
rs397515895
|
|
NM_000256.3(MYBPC3):c.1310del (p.Val437fs)
|
rs397515896
|
|
NM_000256.3(MYBPC3):c.1330del (p.Ser444fs)
|
rs727505152
|
|
NM_000256.3(MYBPC3):c.1343T>C (p.Phe448Ser)
|
rs727504279
|
|
NM_000256.3(MYBPC3):c.1351+1G>A
|
rs727503204
|
|
NM_000256.3(MYBPC3):c.1351+2T>C
|
rs397515897
|
|
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs)
|
rs727503203
|
|
NM_000256.3(MYBPC3):c.1444dup (p.Ala482fs)
|
rs876657703
|
|
NM_000256.3(MYBPC3):c.1458-1G>A
|
rs397515903
|
|
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter)
|
rs397515910
|
|
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.1624+2T>C
|
rs111437311
|
|
NM_000256.3(MYBPC3):c.1628del (p.Lys543fs)
|
rs727504248
|
|
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs)
|
rs398123279
|
|
NM_000256.3(MYBPC3):c.1678del (p.Asp560fs)
|
rs727504366
|
|
NM_000256.3(MYBPC3):c.1693A>T (p.Lys565Ter)
|
rs397515920
|
|
NM_000256.3(MYBPC3):c.1700_1701del (p.Glu567fs)
|
rs727503197
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs)
|
rs397515926
|
|
NM_000256.3(MYBPC3):c.1863del (p.Phe621fs)
|
rs397515931
|
|
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter)
|
rs397515932
|
|
NM_000256.3(MYBPC3):c.1892del (p.Phe631fs)
|
rs397515933
|
|
NM_000256.3(MYBPC3):c.1895del (p.Met632fs)
|
rs397515934
|
|
NM_000256.3(MYBPC3):c.1897+1G>A
|
rs397515935
|
|
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter)
|
rs727504293
|
|
NM_000256.3(MYBPC3):c.1928-2A>G
|
rs397515937
|
|
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)
|
rs727503192
|
|
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs)
|
rs397515943
|
|
NM_000256.3(MYBPC3):c.2040dup (p.Val681fs)
|
rs397515944
|
|
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter)
|
rs397515942
|
|
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs)
|
rs397515947
|
|
NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs)
|
rs397515948
|
|
NM_000256.3(MYBPC3):c.2148+1G>T
|
rs1060499604
|
|
NM_000256.3(MYBPC3):c.2149-1G>A
|
rs727504334
|
|
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs)
|
rs730880362
|
|
NM_000256.3(MYBPC3):c.2163del (p.Glu722fs)
|
rs397515952
|
|
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter)
|
rs397515954
|
|
NM_000256.3(MYBPC3):c.2308+1G>A
|
rs112738974
|
|
NM_000256.3(MYBPC3):c.2308+1G>T
|
rs112738974
|
|
NM_000256.3(MYBPC3):c.2309-2A>G
|
rs111729952
|
|
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs)
|
rs397515960
|
|
NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter)
|
rs730880698
|
|
NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter)
|
rs727504864
|
|
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs)
|
rs730880341
|
|
NM_000256.3(MYBPC3):c.2437A>T (p.Lys813Ter)
|
rs727504252
|
|
NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter)
|
rs397515965
|
|
NM_000256.3(MYBPC3):c.2504del (p.Arg835fs)
|
rs876657704
|
|
NM_000256.3(MYBPC3):c.2517_2538del (p.Val840fs)
|
rs727503187
|
|
NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs)
|
rs397515970
|
|
NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del)
|
rs397515972
|
|
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs)
|
rs397515973
|
|
NM_000256.3(MYBPC3):c.2541C>A (p.Tyr847Ter)
|
rs397515974
|
|
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter)
|
rs397515974
|
|
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs)
|
rs397515975
|
|
NM_000256.3(MYBPC3):c.2556del (p.Ile852fs)
|
rs727503186
|
|
NM_000256.3(MYBPC3):c.2558del (p.Gly853fs)
|
rs397515977
|
|
NM_000256.3(MYBPC3):c.2604_2605delinsA (p.Ser871fs)
|
rs727504371
|
|
NM_000256.3(MYBPC3):c.2610dup (p.Ser871fs)
|
rs397515979
|
|
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)
|
rs397515982
|
|
NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs)
|
rs730880657
|
|
NM_000256.3(MYBPC3):c.2737+1G>C
|
rs727504314
|
|
NM_000256.3(MYBPC3):c.2737+2T>A
|
rs727503184
|
|
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter)
|
rs727504349
|
|
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs)
|
rs727504265
|
|
NM_000256.3(MYBPC3):c.2789del (p.Leu930fs)
|
rs876657705
|
|
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs)
|
rs397515987
|
|
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs)
|
rs727503182
|
|
NM_000256.3(MYBPC3):c.2905+1G>A
|
rs397515991
|
|
NM_000256.3(MYBPC3):c.2905+1G>C
|
rs397515991
|
|
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)
|
rs397515992
|
|
NM_000256.3(MYBPC3):c.2906-2A>G
|
rs727504333
|
|
NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter)
|
rs727503180
|
|
NM_000256.3(MYBPC3):c.2943_2947del (p.Gln981fs)
|
rs397515995
|
|
NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter)
|
rs727504423
|
|
NM_000256.3(MYBPC3):c.2965G>T (p.Glu989Ter)
|
rs727503178
|
|
NM_000256.3(MYBPC3):c.2994+2T>C
|
rs727503176
|
|
NM_000256.3(MYBPC3):c.3040del (p.Leu1014fs)
|
rs397515997
|
|
NM_000256.3(MYBPC3):c.3068dup (p.Asn1023fs)
|
rs397516001
|
|
NM_000256.3(MYBPC3):c.3089_3101del (p.Leu1030fs)
|
rs727503175
|
|
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs)
|
rs1064793202
|
|
NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter)
|
rs573821685
|
|
NM_000256.3(MYBPC3):c.3166dup (p.Ala1056fs)
|
rs727503174
|
|
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs)
|
rs397516007
|
|
NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs)
|
rs730880668
|
|
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter)
|
rs397516006
|
|
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)
|
rs727503172
|
|
NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter)
|
rs397516013
|
|
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs)
|
rs397516014
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3330+5G>T
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3331-1G>A
|
rs727504305
|
|
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter)
|
rs730880337
|
|
NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter)
|
rs727504276
|
|
NM_000256.3(MYBPC3):c.333dup (p.Glu112Ter)
|
rs730880335
|
|
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)
|
rs727504289
|
|
NM_000256.3(MYBPC3):c.343G>T (p.Gly115Ter)
|
rs727503220
|
|
NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs)
|
rs727504321
|
|
NM_000256.3(MYBPC3):c.3476_3479dup (p.Pro1161fs)
|
rs397516019
|
|
NM_000256.3(MYBPC3):c.3490+1G>A
|
rs397516020
|
|
NM_000256.3(MYBPC3):c.350del (p.Pro117fs)
|
rs397516023
|
|
NM_000256.3(MYBPC3):c.3512del (p.Asn1171fs)
|
rs876657706
|
|
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)
|
rs397516028
|
|
NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs)
|
rs727504271
|
|
NM_000256.3(MYBPC3):c.3605G>A (p.Cys1202Tyr)
|
rs727503170
|
|
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs)
|
rs397516029
|
|
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs)
|
rs397516029
|
|
NM_000256.3(MYBPC3):c.3627+1G>A
|
rs397516031
|
|
NM_000256.3(MYBPC3):c.362del (p.Pro121fs)
|
rs397516032
|
|
NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter)
|
rs730880597
|
|
NM_000256.3(MYBPC3):c.3644dup (p.Lys1216fs)
|
rs730880361
|
|
NM_000256.3(MYBPC3):c.3690_3691del (p.Phe1230fs)
|
rs727504390
|
|
NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter)
|
rs397516035
|
|
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs)
|
rs397516038
|
|
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
|
rs193922384
|
|
NM_000256.3(MYBPC3):c.3753T>G (p.Tyr1251Ter)
|
rs397516039
|
|
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del)
|
rs397516040
|
|
NM_000256.3(MYBPC3):c.3815-1G>A
|
rs397516044
|
|
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp)
|
rs727504380
|
|
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs)
|
rs397516047
|
|
NM_000256.3(MYBPC3):c.459del (p.Ile154fs)
|
rs397516052
|
|
NM_000256.3(MYBPC3):c.466dup (p.Leu156Profs)
|
rs730880366
|
|
NM_000256.3(MYBPC3):c.505+5G>C
|
rs727503219
|
|
NM_000256.3(MYBPC3):c.506-1G>T
|
rs397516056
|
|
NM_000256.3(MYBPC3):c.506-2A>C
|
rs397516057
|
|
NM_000256.3(MYBPC3):c.533del (p.Val178fs)
|
rs727503217
|
|
NM_000256.3(MYBPC3):c.541_560del (p.Ala181fs)
|
rs397516058
|
|
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs)
|
rs397516059
|
|
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter)
|
rs397516061
|
|
NM_000256.3(MYBPC3):c.622C>T (p.Gln208Ter)
|
rs1595849603
|
|
NM_000256.3(MYBPC3):c.655-1G>A
|
rs397516067
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser)
|
rs397516070
|
|
NM_000256.3(MYBPC3):c.772+1G>A
|
rs397516072
|
|
NM_000256.3(MYBPC3):c.773-2A>T
|
rs1595848628
|
|
NM_000256.3(MYBPC3):c.821+1G>C
|
rs397516073
|
|
NM_000256.3(MYBPC3):c.821+2T>C
|
rs397516076
|
|
NM_000256.3(MYBPC3):c.821+5G>A
|
rs397516077
|
|
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)
|
rs727503212
|
|
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)
|
rs397516080
|
|
NM_000256.3(MYBPC3):c.927-10C>A
|
rs201078659
|
|
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)
|
rs193922386
|
|
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter)
|
rs727503211
|
|
NM_000256.3(MYBPC3):c.979C>T (p.Gln327Ter)
|
rs727503210
|
|
NM_000256.3(MYBPC3):c.984_1054del (p.Pro329fs)
|
rs1555122751
|
|
NM_000256.3(MYBPC3):c.993dup (p.Glu332Ter)
|
rs727503209
|
|
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter)
|
rs367947846
|
|
NM_000257.4(MYH7):c.1012G>A (p.Val338Met)
|
rs727503271
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)
|
rs397516089
|
|
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys)
|
rs727503269
|
|
NM_000257.4(MYH7):c.1207C>G (p.Arg403Gly)
|
rs3218714
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1220G>T (p.Gly407Val)
|
rs397516095
|
|
NM_000257.4(MYH7):c.1273G>A (p.Gly425Arg)
|
rs397516097
|
|
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val)
|
rs727503266
|
|
NM_000257.4(MYH7):c.1318G>A (p.Val440Met)
|
rs397516098
|
|
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)
|
rs727504236
|
|
NM_000257.4(MYH7):c.1477A>G (p.Met493Val)
|
rs730880875
|
|
NM_000257.4(MYH7):c.1477_1478del (p.Met493fs)
|
rs727504336
|
|
NM_000257.4(MYH7):c.1549C>A (p.Leu517Met)
|
rs727504237
|
|
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)
|
rs606231324
|
|
NM_000257.4(MYH7):c.1584G>A (p.Met528Ile)
|
rs727503265
|
|
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro)
|
rs121913642
|
|
NM_000257.4(MYH7):c.1608G>T (p.Glu536Asp)
|
rs397516115
|
|
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)
|
rs121913626
|
|
NM_000257.4(MYH7):c.1757T>C (p.Val586Ala)
|
rs397516121
|
|
NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys)
|
rs397516122
|
|
NM_000257.4(MYH7):c.1798C>T (p.Pro600Ser)
|
rs397516123
|
|
NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys)
|
rs727504925
|
|
NM_000257.4(MYH7):c.1922G>C (p.Gly641Ala)
|
rs1555338080
|
|
NM_000257.4(MYH7):c.1969A>C (p.Lys657Gln)
|
rs727503264
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)
|
rs727503263
|
|
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr)
|
rs397516128
|
|
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn)
|
rs397516132
|
|
NM_000257.4(MYH7):c.2123G>C (p.Gly708Ala)
|
rs397516134
|
|
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)
|
rs121913638
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)
|
rs121913630
|
|
NM_000257.4(MYH7):c.2198G>A (p.Gly733Glu)
|
rs727504241
|
|
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)
|
rs727503261
|
|
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2242T>C (p.Ser748Pro)
|
rs876657879
|
|
NM_000257.4(MYH7):c.2287G>A (p.Val763Met)
|
rs727504253
|
|
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg)
|
rs727503260
|
|
NM_000257.4(MYH7):c.2347C>G (p.Arg783Gly)
|
rs727503258
|
|
NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro)
|
rs397516142
|
|
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala)
|
rs727503255
|
|
NM_000257.4(MYH7):c.2502C>G (p.Phe834Leu)
|
rs397516152
|
|
NM_000257.4(MYH7):c.2513C>A (p.Pro838Gln)
|
rs397516153
|
|
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu)
|
rs397516153
|
|
NM_000257.4(MYH7):c.2527G>A (p.Ala843Thr)
|
rs727505132
|
|
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)
|
rs727504310
|
|
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)
|
rs397516155
|
|
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly)
|
rs727504311
|
|
NM_000257.4(MYH7):c.2546T>C (p.Met849Thr)
|
rs397516156
|
|
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)
|
rs727504356
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del)
|
rs193922387
|
|
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val)
|
rs727503254
|
|
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)
|
rs727503253
|
|
NM_000257.4(MYH7):c.2711G>A (p.Arg904His)
|
rs397516165
|
|
NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro)
|
rs397516166
|
|
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)
|
rs121913628
|
|
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys)
|
rs397516170
|
|
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn)
|
rs727503252
|
|
NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del)
|
rs397516172
|
|
NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys)
|
rs397516171
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
|
rs397516178
|
|
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys)
|
rs727504274
|
|
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del)
|
rs397516190
|
|
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp)
|
rs727503249
|
|
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys)
|
rs727503245
|
|
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)
|
rs397516207
|
|
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn)
|
rs397516212
|
|
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)
|
rs45544633
|
|
NM_000257.4(MYH7):c.457del (p.His153fs)
|
rs397516224
|
|
NM_000257.4(MYH7):c.505A>G (p.Arg169Gly)
|
rs727504267
|
|
NM_000257.4(MYH7):c.506G>A (p.Arg169Lys)
|
rs397516237
|
|
NM_000257.4(MYH7):c.507A>T (p.Arg169Ser)
|
rs397516238
|
|
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)
|
rs121913650
|
|
NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys)
|
rs397516247
|
|
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)
|
rs397516248
|
|
NM_000257.4(MYH7):c.5717C>G (p.Ala1906Gly)
|
rs397516252
|
|
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro)
|
rs397516253
|
|
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)
|
rs397516254
|
|
NM_000257.4(MYH7):c.596C>T (p.Ala199Val)
|
rs727504283
|
|
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)
|
rs397516258
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
NM_000257.4(MYH7):c.732+1G>A
|
rs730880850
|
|
NM_000257.4(MYH7):c.739T>C (p.Phe247Leu)
|
rs727503276
|
|
NM_000257.4(MYH7):c.743T>C (p.Ile248Thr)
|
rs727504280
|
|
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)
|
rs3218713
|
|
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)
|
rs397516269
|
|
NM_000257.4(MYH7):c.799C>G (p.Leu267Val)
|
rs727504409
|
|
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr)
|
rs730880856
|
|
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)
|
rs199473161
|
|
NM_000335.5(SCN5A):c.3992del (p.Pro1331fs)
|
rs727504801
|
|
NM_000363.5(TNNI3):c.1A>G (p.Met1Val)
|
rs397516341
|
|
NM_000363.5(TNNI3):c.431T>C (p.Leu144Pro)
|
rs121917760
|
|
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)
|
rs104894724
|
|
NM_000363.5(TNNI3):c.464T>C (p.Met155Thr)
|
rs397516352
|
|
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)
|
rs397516353
|
|
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro)
|
rs397516354
|
|
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp)
|
rs727503504
|
|
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)
|
rs727503503
|
|
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del)
|
rs397516351
|
|
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)
|
rs397516355
|
|
NM_000363.5(TNNI3):c.550G>A (p.Glu184Lys)
|
rs397516356
|
|
NM_000363.5(TNNI3):c.568G>T (p.Asp190Tyr)
|
rs727503500
|
|
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)
|
rs727503499
|
|
NM_000363.5(TNNI3):c.575G>A (p.Arg192His)
|
rs104894729
|
|
NM_000363.5(TNNI3):c.575G>C (p.Arg192Pro)
|
rs104894729
|
|
NM_000363.5(TNNI3):c.575G>T (p.Arg192Leu)
|
rs104894729
|
|
NM_000363.5(TNNI3):c.602T>C (p.Met201Thr)
|
rs727504365
|
|
NM_000363.5(TNNI3):c.611G>A (p.Arg204His)
|
rs727504275
|
|
NM_000371.4(TTR):c.113A>G (p.Asp38Gly)
|
rs121918098
|
|
NM_000371.4(TTR):c.421GTC[1] (p.Val142del)
|
rs121918096
|
|
NM_000432.4(MYL2):c.193G>A (p.Glu65Lys)
|
rs397516398
|
|
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn)
|
rs587782965
|
|
NM_000432.4(MYL2):c.260G>C (p.Gly87Ala)
|
rs397516399
|
|
NM_000432.4(MYL2):c.482A>G (p.His161Arg)
|
rs727503296
|
|
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg)
|
rs199474814
|
|
NM_000432.4(MYL2):c.485G>A (p.Gly162Glu)
|
rs397516406
|
|
NM_000432.4(MYL2):c.488A>C (p.Glu163Ala)
|
rs397516407
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
NM_000432.4(MYL2):c.80A>G (p.Gln27Arg)
|
rs397516408
|
|
NM_001005242.3(PKP2):c.1034+1G>T
|
rs869025496
|
|
NM_001005242.3(PKP2):c.1034+1del
|
rs1555148011
|
|
NM_001005242.3(PKP2):c.1035-1G>A
|
rs1555147210
|
|
NM_001005242.3(PKP2):c.1170+2T>A
|
rs397516987
|
|
NM_001005242.3(PKP2):c.1211dup (p.Val406fs)
|
rs397516989
|
|
NM_001005242.3(PKP2):c.1271T>C (p.Phe424Ser)
|
rs397516990
|
|
NM_001005242.3(PKP2):c.1301dup (p.Ala434_Glu435insTer)
|
rs876657659
|
|
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs)
|
rs397516992
|
|
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer)
|
rs397516993
|
|
NM_001005242.3(PKP2):c.1378+1G>C
|
rs397516994
|
|
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter)
|
rs397517001
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
NM_001005242.3(PKP2):c.14del (p.Gly5fs)
|
rs397516996
|
|
NM_001005242.3(PKP2):c.1511del (p.Gly504fs)
|
rs794729137
|
|
NM_001005242.3(PKP2):c.1556+1G>A
|
rs397517003
|
|
NM_001005242.3(PKP2):c.1577del (p.Ala526fs)
|
rs397517005
|
|
NM_001005242.3(PKP2):c.1627del (p.Val543fs)
|
rs397517008
|
|
NM_001005242.3(PKP2):c.1628del (p.Val543fs)
|
rs397517009
|
|
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)
|
rs397517010
|
|
NM_001005242.3(PKP2):c.1708del (p.Leu570fs)
|
rs1555142994
|
|
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs)
|
rs397517013
|
|
NM_001005242.3(PKP2):c.1867G>T (p.Glu623Ter)
|
rs397517015
|
|
NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter)
|
rs397517017
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter)
|
rs121434421
|
|
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs)
|
rs397517022
|
|
NM_001005242.3(PKP2):c.2357+1G>T
|
rs111517471
|
|
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)
|
rs727504432
|
|
NM_001005242.3(PKP2):c.2419del (p.Thr807fs)
|
rs727504786
|
|
NM_001005242.3(PKP2):c.269_272del (p.Leu90fs)
|
rs397517025
|
|
NM_001005242.3(PKP2):c.337-2A>T
|
rs786204389
|
|
NM_001005242.3(PKP2):c.654_655del (p.His218fs)
|
rs1591828796
|
|
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter)
|
rs727504430
|
|
NM_001005242.3(PKP2):c.951_983delinsAC (p.His318fs)
|
rs397517030
|
|
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs)
|
rs1555148035
|
|
NM_001005242.3(PKP2):c.968_975dup (p.Ala326fs)
|
rs1555148032
|
|
NM_001008844.3(DSP):c.3582+1242dup
|
rs727503003
|
|
NM_001018005.2(TPM1):c.163G>A (p.Asp55Asn)
|
rs397516363
|
|
NM_001018005.2(TPM1):c.23T>G (p.Met8Arg)
|
rs397516364
|
|
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr)
|
rs199476310
|
|
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)
|
rs104894504
|
|
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val)
|
rs397516369
|
|
NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly)
|
rs397516370
|
|
NM_001018005.2(TPM1):c.416A>T (p.Glu139Val)
|
rs727504389
|
|
NM_001018005.2(TPM1):c.423G>C (p.Met141Ile)
|
rs397516371
|
|
NM_001018005.2(TPM1):c.457C>G (p.His153Asp)
|
rs397516372
|
|
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln)
|
rs727504290
|
|
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)
|
rs397516373
|
|
NM_001018005.2(TPM1):c.479G>A (p.Arg160His)
|
rs199476311
|
|
NM_001018005.2(TPM1):c.496G>A (p.Ala166Thr)
|
rs876657662
|
|
NM_001018005.2(TPM1):c.559G>C (p.Glu187Gln)
|
rs727504264
|
|
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)
|
rs199476315
|
|
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys)
|
rs397516486
|
|
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn)
|
rs727503518
|
|
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)
|
rs199476317
|
|
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr)
|
rs727502886
|
|
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)
|
rs267607002
|
|
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)
|
rs267607003
|
|
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)
|
rs397516607
|
|
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys)
|
rs727504859
|
|
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs)
|
rs727504763
|
|
NM_001256850.1(TTN):c.86916dup (p.Val28973fs)
|
rs730880365
|
|
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs)
|
rs727503537
|
|
NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs)
|
rs876657663
|
|
NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter)
|
rs397517787
|
|
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter)
|
rs397517830
|
|
NM_001267550.2(TTN):c.12405del (p.Asn4135fs)
|
rs727503658
|
|
NM_001267550.2(TTN):c.13058del (p.Pro4353fs)
|
rs1408345511
|
|
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter)
|
rs727504843
|
|
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg)
|
rs267607155
|
|
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)
|
rs397517547
|
|
NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs)
|
rs727504452
|
|
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter)
|
rs727503697
|
|
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)
|
rs876657664
|
|
NM_001267550.2(TTN):c.41610del (p.Val13871fs)
|
rs397517565
|
|
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs)
|
rs1553742630
|
|
NM_001267550.2(TTN):c.42968dup (p.Pro14324fs)
|
rs1553741321
|
|
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs)
|
rs397517576
|
|
NM_001267550.2(TTN):c.45895+1G>A
|
rs727504589
|
|
NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs)
|
rs397517584
|
|
NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter)
|
rs397517586
|
|
NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter)
|
rs397517587
|
|
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)
|
rs397517589
|
|
NM_001267550.2(TTN):c.48761-1G>C
|
rs876657665
|
|
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)
|
rs397517601
|
|
NM_001267550.2(TTN):c.51739+1G>C
|
rs727504799
|
|
NM_001267550.2(TTN):c.51870del (p.Glu17291fs)
|
rs1553691320
|
|
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs)
|
rs727503615
|
|
NM_001267550.2(TTN):c.53393del (p.Gly17798fs)
|
rs794729324
|
|
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)
|
rs727503607
|
|
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter)
|
rs397517620
|
|
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)
|
rs727503602
|
|
NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter)
|
rs727503598
|
|
NM_001267550.2(TTN):c.56647+1G>A
|
rs397517624
|
|
NM_001267550.2(TTN):c.57215del (p.Gly19072fs)
|
rs397517628
|
|
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)
|
rs72646831
|
|
NM_001267550.2(TTN):c.59205del (p.Glu19735fs)
|
rs397517643
|
|
NM_001267550.2(TTN):c.60399del (p.Ser20134fs)
|
rs727504466
|
|
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)
|
rs727503586
|
|
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)
|
rs876657666
|
|
NM_001267550.2(TTN):c.64094-2A>G
|
rs876657667
|
|
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter)
|
rs1576014673
|
|
NM_001267550.2(TTN):c.64397-1G>C
|
rs876657668
|
|
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)
|
rs397517664
|
|
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs)
|
rs397517698
|
|
NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter)
|
rs727505352
|
|
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)
|
rs371678190
|
|
NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs)
|
rs397517679
|
|
NM_001267550.2(TTN):c.70275del (p.Ser23425fs)
|
rs727504655
|
|
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter)
|
rs727503567
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001267550.2(TTN):c.71634del (p.Ala23879fs)
|
rs727503565
|
|
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer)
|
rs794729338
|
|
NM_001267550.2(TTN):c.73387del (p.Ala24463fs)
|
rs1553607425
|
|
NM_001267550.2(TTN):c.73827del (p.Glu24609fs)
|
rs397517695
|
|
NM_001267550.2(TTN):c.73845del (p.Glu24615fs)
|
rs397517696
|
|
NM_001267550.2(TTN):c.75443del (p.Gly25148fs)
|
rs1553603456
|
|
NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter)
|
rs780512337
|
|
NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter)
|
rs1060500562
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
NM_001267550.2(TTN):c.81521del (p.Pro27174fs)
|
rs1553577362
|
|
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)
|
rs397517721
|
|
NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs)
|
rs727504660
|
|
NM_001267550.2(TTN):c.81886del (p.Glu27296fs)
|
rs727503557
|
|
NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter)
|
rs727505288
|
|
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs)
|
rs869312037
|
|
NM_001267550.2(TTN):c.83407del (p.Val27803fs)
|
rs727504782
|
|
NM_001267550.2(TTN):c.83603del (p.Gly27868fs)
|
rs727505014
|
|
NM_001267550.2(TTN):c.83843del (p.Arg27948fs)
|
rs1703956616
|
|
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter)
|
rs876657670
|
|
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter)
|
rs1064793814
|
|
NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter)
|
rs868494032
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
NM_001267550.2(TTN):c.87516del (p.Tyr29173fs)
|
rs727503552
|
|
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter)
|
rs1575584918
|
|
NM_001267550.2(TTN):c.8780_8781insAT (p.Phe2927fs)
|
rs2091199299
|
|
NM_001267550.2(TTN):c.89197_89197+2del
|
rs397517741
|
|
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter)
|
rs727505224
|
|
NM_001267550.2(TTN):c.90587del (p.Lys30196fs)
|
rs397517749
|
|
NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer)
|
rs727505076
|
|
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter)
|
rs727504646
|
|
NM_001267550.2(TTN):c.93897del (p.Phe31299fs)
|
rs397517758
|
|
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)
|
rs727503547
|
|
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs)
|
rs727503546
|
|
NM_001267550.2(TTN):c.96268C>T (p.Gln32090Ter)
|
rs876657671
|
|
NM_001267550.2(TTN):c.97492+1G>C
|
rs727505319
|
|
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)
|
rs727504679
|
|
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter)
|
rs727504550
|
|
NM_001267550.2(TTN):c.98989+1G>A
|
rs112240298
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter)
|
rs771511344
|
|
NM_001267550.2(TTN):c.99866-1G>A
|
rs876657672
|
|
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)
|
rs121964855
|
|
NM_001276345.2(TNNT2):c.274G>A (p.Gly92Arg)
|
rs727504255
|
|
NM_001276345.2(TNNT2):c.294T>A (p.Asp98Glu)
|
rs397516454
|
|
NM_001276345.2(TNNT2):c.294T>G (p.Asp98Glu)
|
rs397516454
|
|
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)
|
rs727503513
|
|
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.316_318del (p.Glu106del)
|
rs727504277
|
|
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn)
|
rs397516459
|
|
NM_001276345.2(TNNT2):c.354_355delinsGT (p.His119Tyr)
|
rs876658027
|
|
NM_001276345.2(TNNT2):c.382G>A (p.Glu128Lys)
|
rs397516461
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln)
|
rs397516464
|
|
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro)
|
rs397516464
|
|
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)
|
rs397516470
|
|
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)
|
rs727503512
|
|
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)
|
rs397516471
|
|
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)
|
rs727504246
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys)
|
rs376923877
|
|
NM_001276345.2(TNNT2):c.851+1G>A
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.851+1G>T
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)
|
rs730881116
|
|
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser)
|
rs397507473
|
|
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg)
|
rs397516891
|
|
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu)
|
rs180177042
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.347A>G (p.Asn116Ser)
|
rs267607499
|
|
NM_001927.4(DES):c.35C>T (p.Ser12Phe)
|
rs267607495
|
|
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
|
rs62636495
|
|
NM_001927.4(DES):c.735+1G>A
|
rs397516698
|
|
NM_001927.4(DES):c.735+1G>C
|
rs397516698
|
|
NM_001927.4(DES):c.735+3A>G
|
rs267607483
|
|
NM_001943.5(DSG2):c.146G>A (p.Arg49His)
|
rs121913006
|
|
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer)
|
rs397516703
|
|
NM_001943.5(DSG2):c.1880-2A>G
|
rs397514038
|
|
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.941C>A (p.Ser314Ter)
|
rs397516712
|
|
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
|
|
|
NM_002294.3(LAMP2):c.1020del (p.Gly341fs)
|
rs727504597
|
|
NM_002294.3(LAMP2):c.128_129dup (p.Ala44fs)
|
rs730880344
|
|
NM_002294.3(LAMP2):c.183+1G>A
|
rs727503120
|
|
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter)
|
rs397516736
|
|
NM_002294.3(LAMP2):c.183T>G (p.Tyr61Ter)
|
rs397516736
|
|
NM_002294.3(LAMP2):c.191del (p.Val64fs)
|
rs397516738
|
|
NM_002294.3(LAMP2):c.864+3_864+6del
|
rs397516751
|
|
NM_002294.3(LAMP2):c.865-1G>C
|
rs397516752
|
|
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter)
|
rs727503118
|
|
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)
|
rs104894858
|
|
NM_002294.3(LAMP2):c.999del (p.Glu334fs)
|
rs727504557
|
|
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)
|
rs267606921
|
|
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)
|
rs121913250
|
|
NM_002524.5(NRAS):c.35G>T (p.Gly12Val)
|
rs121913237
|
|
NM_002667.5(PLN):c.25C>T (p.Arg9Cys)
|
rs111033559
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe)
|
rs397516789
|
|
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln)
|
rs397516790
|
|
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)
|
rs727504317
|
|
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)
|
rs397516791
|
|
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)
|
rs876657651
|
|
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)
|
rs397516792
|
|
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)
|
rs121908596
|
|
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)
|
rs397516793
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)
|
rs397507501
|
|
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)
|
rs121918468
|
|
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)
|
rs121918468
|
|
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)
|
rs121918469
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)
|
rs397507542
|
|
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)
|
rs397507543
|
|
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)
|
rs121918458
|
|
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala)
|
rs121918458
|
|
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)
|
rs397507544
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)
|
rs397507548
|
|
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)
|
rs397507549
|
|
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)
|
rs121918470
|
|
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)
|
rs397507503
|
|
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)
|
rs397507506
|
|
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)
|
rs397507506
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)
|
rs397507509
|
|
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)
|
rs397507510
|
|
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala)
|
rs121918461
|
|
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
|
rs121918461
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)
|
rs397507511
|
|
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)
|
rs727503380
|
|
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)
|
rs397516801
|
|
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)
|
rs397507512
|
|
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu)
|
rs397516802
|
|
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
|
rs121918462
|
|
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)
|
rs397507514
|
|
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)
|
rs397507514
|
|
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys)
|
rs397516803
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)
|
rs397507517
|
|
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)
|
rs397507518
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)
|
rs397507523
|
|
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp)
|
rs397516809
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys)
|
rs397507527
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)
|
rs397507530
|
|
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)
|
rs397507531
|
|
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)
|
rs121918463
|
|
NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys)
|
rs121918463
|
|
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)
|
rs397516810
|
|
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)
|
rs121918455
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)
|
rs397516813
|
|
NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu)
|
rs730881003
|
|
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly)
|
rs397516815
|
|
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)
|
rs80338799
|
|
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)
|
rs80338797
|
|
NM_002880.4(RAF1):c.285C>G (p.Cys95Trp)
|
rs727503384
|
|
NM_002880.4(RAF1):c.524A>G (p.His175Arg)
|
rs397516822
|
|
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly)
|
rs397516825
|
|
NM_002880.4(RAF1):c.768G>C (p.Arg256Ser)
|
rs397516826
|
|
NM_002880.4(RAF1):c.768G>T (p.Arg256Ser)
|
rs397516826
|
|
NM_002880.4(RAF1):c.769T>C (p.Ser257Pro)
|
rs727505017
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr)
|
rs3730271
|
|
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro)
|
rs3730271
|
|
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr)
|
rs121434594
|
|
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)
|
rs121434594
|
|
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)
|
rs121434594
|
|
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)
|
rs397516828
|
|
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu)
|
rs397516828
|
|
NM_002880.4(RAF1):c.786T>A (p.Asn262Lys)
|
rs397516829
|
|
NM_002880.4(RAF1):c.788T>G (p.Val263Gly)
|
rs397516830
|
|
NM_003319.4(TTN):c.45637dup (p.Thr15213fs)
|
rs876657669
|
|
NM_003319.4(TTN):c.50226dup (p.Ser16743fs)
|
rs730880343
|
|
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer)
|
rs727503559
|
|
NM_003319.4(TTN):c.63583dup (p.Tyr21195fs)
|
rs397517750
|
|
NM_003319.4(TTN):c.80003_80028+4del
|
rs1553479603
|
|
NM_003373.4(VCL):c.659dup (p.Asn220fs)
|
rs397517245
|
|
NM_003373.4(VCL):c.670dup (p.Glu224fs)
|
rs876657674
|
|
NM_004100.4(EYA4):c.724_(804_?)del
|
|
|
NM_004281.4(BAG3):c.100_107del (p.Thr34fs)
|
rs727505283
|
|
NM_004281.4(BAG3):c.1067del (p.Pro356fs)
|
rs727505109
|
|
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys)
|
rs397516881
|
|
NM_004281.4(BAG3):c.72del (p.Gly25fs)
|
rs727502897
|
|
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter)
|
rs876657634
|
|
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)
|
rs1554875409
|
|
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)
|
rs869248137
|
|
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)
|
rs121913348
|
|
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu)
|
rs397516892
|
|
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln)
|
rs397507474
|
|
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn)
|
rs727504375
|
|
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)
|
rs397507475
|
|
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)
|
rs180177036
|
|
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)
|
rs180177036
|
|
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly)
|
rs397516893
|
|
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)
|
rs180177038
|
|
NM_004333.6(BRAF):c.1501G>C (p.Glu501Gln)
|
rs180177038
|
|
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)
|
rs180177039
|
|
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val)
|
rs180177039
|
|
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr)
|
rs397507479
|
|
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)
|
rs180177041
|
|
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu)
|
rs397507480
|
|
NM_004333.6(BRAF):c.1720C>T (p.His574Tyr)
|
rs397516894
|
|
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)
|
rs180177040
|
|
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)
|
rs397516895
|
|
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)
|
rs121913341
|
|
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)
|
rs397507483
|
|
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)
|
rs121913369
|
|
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)
|
rs121913364
|
|
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)
|
rs397507484
|
|
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)
|
rs727502904
|
|
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)
|
rs387906661
|
|
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys)
|
rs387906660
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro)
|
rs397507465
|
|
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)
|
rs397507466
|
|
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)
|
rs397507466
|
|
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)
|
rs180177034
|
|
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys)
|
rs397507469
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro)
|
rs397516904
|
|
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg)
|
rs397516905
|
|
NM_004415.4(DSP):c.1141-2A>T
|
rs794728111
|
|
NM_004415.4(DSP):c.1146del (p.Phe382fs)
|
rs397516913
|
|
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
|
rs397516915
|
|
NM_004415.4(DSP):c.1615C>T (p.Gln539Ter)
|
rs727504498
|
|
NM_004415.4(DSP):c.1650G>A (p.Trp550Ter)
|
rs397516919
|
|
NM_004415.4(DSP):c.1751del (p.Glu584fs)
|
rs727505077
|
|
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter)
|
rs876657638
|
|
NM_004415.4(DSP):c.208_209dup (p.Ile71fs)
|
rs727502993
|
|
NM_004415.4(DSP):c.2130+1G>A
|
rs727505115
|
|
NM_004415.4(DSP):c.214C>T (p.Gln72Ter)
|
rs397516923
|
|
NM_004415.4(DSP):c.226C>T (p.Gln76Ter)
|
rs1554105614
|
|
NM_004415.4(DSP):c.2437-1G>C
|
rs1057517903
|
|
NM_004415.4(DSP):c.273del (p.Glu92fs)
|
rs794728136
|
|
NM_004415.4(DSP):c.2848dup (p.Ile950fs)
|
rs397516927
|
|
NM_004415.4(DSP):c.2920del (p.Thr974fs)
|
rs727505260
|
|
NM_004415.4(DSP):c.2959T>C (p.Ser987Pro)
|
rs397516929
|
|
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)
|
rs1554108012
|
|
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs)
|
rs397516932
|
|
NM_004415.4(DSP):c.3434del (p.Ala1145fs)
|
rs1581815603
|
|
NM_004415.4(DSP):c.3474dup (p.Glu1159fs)
|
rs727503000
|
|
NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter)
|
rs148894066
|
|
NM_004415.4(DSP):c.3526del (p.Val1176fs)
|
rs727505271
|
|
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter)
|
rs727503001
|
|
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs)
|
rs1554108152
|
|
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter)
|
rs397516933
|
|
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)
|
rs1561698362
|
|
NM_004415.4(DSP):c.4397dup (p.Gln1467fs)
|
rs1581817513
|
|
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)
|
rs397516943
|
|
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)
|
rs1554108410
|
|
NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs)
|
rs727504738
|
|
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)
|
rs1554108431
|
|
NM_004415.4(DSP):c.523C>T (p.Gln175Ter)
|
rs1581794029
|
|
NM_004415.4(DSP):c.534_535insA (p.Gly179fs)
|
rs397516945
|
|
NM_004415.4(DSP):c.5378_5379dup (p.Ala1794fs)
|
rs727502994
|
|
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter)
|
rs397516946
|
|
NM_004415.4(DSP):c.6273del (p.Ala2092fs)
|
rs794728146
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
NM_004415.4(DSP):c.712dup (p.Ile238fs)
|
rs397516956
|
|
NM_004415.4(DSP):c.867C>A (p.Cys289Ter)
|
rs397516973
|
|
NM_004415.4(DSP):c.919C>T (p.Gln307Ter)
|
rs1238227166
|
|
NM_004572.3(PKP2):c.(?_1689)_(1806_?)del
|
|
|
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs)
|
rs1555144459
|
|
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)
|
rs104894366
|
|
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu)
|
rs104894366
|
|
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)
|
rs727503109
|
|
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)
|
rs193929331
|
|
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile)
|
rs104894364
|
|
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)
|
rs104894359
|
|
NM_004985.5(KRAS):c.179G>T (p.Gly60Val)
|
rs727503108
|
|
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg)
|
rs121913240
|
|
NM_004985.5(KRAS):c.211T>G (p.Tyr71Asp)
|
rs387907205
|
|
NM_004985.5(KRAS):c.214A>T (p.Met72Leu)
|
rs727504662
|
|
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)
|
rs104894365
|
|
NM_004985.5(KRAS):c.454G>T (p.Val152Phe)
|
rs397517041
|
|
NM_004985.5(KRAS):c.458A>G (p.Asp153Gly)
|
rs104894360
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004985.5(KRAS):c.466T>A (p.Phe156Ile)
|
rs397517042
|
|
NM_004985.5(KRAS):c.466T>G (p.Phe156Val)
|
rs397517042
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp)
|
rs397517065
|
|
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)
|
rs727504323
|
|
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)
|
rs397517071
|
|
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr)
|
rs727504379
|
|
NM_005188.4(CBL):c.1096-1G>C
|
rs397517076
|
|
NM_005188.4(CBL):c.1096-4_1096-1del
|
rs397517077
|
|
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys)
|
rs727504504
|
|
NM_005188.4(CBL):c.1228-2A>G
|
rs727504426
|
|
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)
|
rs121917758
|
|
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)
|
rs727503093
|
|
NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu)
|
rs727504747
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg)
|
rs104894227
|
|
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)
|
rs104894230
|
|
NM_005343.4(HRAS):c.35G>T (p.Gly12Val)
|
rs104894230
|
|
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu)
|
rs727503094
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.437C>T (p.Ala146Val)
|
rs121917759
|
|
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys)
|
rs121917757
|
|
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala)
|
rs397517146
|
|
NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg)
|
rs1572830693
|
|
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg)
|
rs267607080
|
|
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys)
|
rs397517147
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)
|
rs397517150
|
|
NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr)
|
rs727504295
|
|
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)
|
rs397517149
|
|
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)
|
rs397517153
|
|
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)
|
rs137852814
|
|
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)
|
rs397517154
|
|
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)
|
rs397517154
|
|
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)
|
rs267607079
|
|
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)
|
rs267607079
|
|
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val)
|
rs727505093
|
|
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile)
|
rs397517156
|
|
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)
|
rs397517159
|
|
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys)
|
rs1553353452
|
|
NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His)
|
rs397517163
|
|
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys)
|
rs397517164
|
|
NM_005633.4(SOS1):c.335C>G (p.Pro112Arg)
|
rs397517166
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
NM_005633.4(SOS1):c.512T>C (p.Val171Ala)
|
rs397517174
|
|
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)
|
rs137852812
|
|
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)
|
rs137852813
|
|
NM_005633.4(SOS1):c.806T>G (p.Met269Arg)
|
rs137852813
|
|
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr)
|
rs397517180
|
|
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)
|
rs672601334
|
|
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)
|
rs869025191
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
NM_013995.2(LAMP2):c.217dup (p.Thr73fs)
|
rs397516739
|
|
NM_014000.3(VCL):c.1544-2A>G
|
rs727503738
|
|
NM_014000.3(VCL):c.1762C>T (p.Gln588Ter)
|
rs727504381
|
|
NM_016203.4(PRKAG2):c.1030C>T (p.His344Tyr)
|
rs727504392
|
|
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn)
|
rs28938173
|
|
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln)
|
rs267606978
|
|
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)
|
rs121908991
|
|
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu)
|
rs121908991
|
|
NM_016203.4(PRKAG2):c.967T>A (p.Phe323Ile)
|
rs397517283
|
|
NM_020778.5(ALPK3):c.2645_2670del (p.Gly882fs)
|
rs1963877824
|
|
NM_020778.5(ALPK3):c.3726del (p.Lys1243fs)
|
rs745688425
|
|
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter)
|
rs200889953
|
|
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs)
|
rs1450218521
|
|
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
|
rs63750743
|
|
NM_024422.6(DSC2):c.154+1G>A
|
rs397517393
|
|
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter)
|
rs397517406
|
|
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer)
|
rs397517408
|
|
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)
|
rs121434499
|
|
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)
|
rs727504370
|
|
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)
|
rs727504382
|
|
NM_133378.4(TTN):c.10361-1262dup
|
rs876657673
|
|
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs)
|
rs727504825
|
|
NM_152594.3(SPRED1):c.423+2T>C
|
rs1555391161
|
|
NM_170707.2(LMNA):c.(?_1)_(356_?)del
|
|
|
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro)
|
rs397517886
|
|
NM_170707.4(LMNA):c.1111_1125del (p.Met371_Ala375del)
|
rs397517887
|
|
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs)
|
rs397517888
|
|
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)
|
rs57508089
|
|
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)
|
rs267607618
|
|
NM_170707.4(LMNA):c.1300_1307del (p.His433_Ala434insTer)
|
rs267607577
|
|
NM_170707.4(LMNA):c.1526dup (p.Thr510fs)
|
rs58013325
|
|
NM_170707.4(LMNA):c.154C>G (p.Leu52Val)
|
rs397517895
|
|
NM_170707.4(LMNA):c.1609-1G>A
|
rs111569862
|
|
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581
|
|
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)
|
rs56984562
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)
|
rs61046466
|
|
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)
|
rs58596362
|
|
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)
|
rs59270054
|
|
NM_170707.4(LMNA):c.348dup (p.Lys117fs)
|
rs267607646
|
|
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)
|
rs58917027
|
|
NM_170707.4(LMNA):c.476del (p.Glu159fs)
|
rs876657650
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro)
|
rs267607594
|
|
NM_170707.4(LMNA):c.513+1G>C
|
rs397517904
|
|
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)
|
rs267607571
|
|
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)
|
rs28933091
|
|
NM_170707.4(LMNA):c.589_593delinsACTTGAAG (p.Leu197_Gln198delinsThrTer)
|
rs1572358821
|
|
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)
|
rs61195471
|
|
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)
|
rs28933092
|
|
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)
|
rs267607573
|
|
NM_170707.4(LMNA):c.763del (p.Gln255fs)
|
rs397517908
|
|
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del)
|
rs58978449
|
|
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter)
|
rs397517909
|
|
NM_170707.4(LMNA):c.799T>C (p.Tyr267His)
|
rs267607593
|
|
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly)
|
rs397517911
|
|
NM_170707.4(LMNA):c.958del (p.Leu320fs)
|
rs397517915
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|