NM_024334.3(TMEM43):c.*115T>C
|
rs1043943
|
0.65275
|
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)
|
rs2228001
|
0.64910
|
NM_004572.3(PKP2):c.-116C>T
|
rs187291890
|
0.48955
|
NM_004628.5(XPC):c.*96C>G
|
rs2229090
|
0.22357
|
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro)
|
rs1046116
|
0.20181
|
NM_001005242.3(PKP2):c.2357+13_2357+14insC
|
rs149968852
|
0.19813
|
NM_024334.3(TMEM43):c.*779A>C
|
rs13069
|
0.19544
|
NM_024334.3(TMEM43):c.*1424T>C
|
rs10468
|
0.19535
|
NM_004415.4(DSP):c.1dup (p.Met1fs)
|
rs17133512
|
0.17362
|
NM_004628.5(XPC):c.*618A>G
|
rs2470458
|
0.16965
|
NM_024334.3(TMEM43):c.*1374T>C
|
rs8516
|
0.16859
|
NM_024334.3(TMEM43):c.*463A>G
|
rs1043953
|
0.15711
|
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser)
|
rs3766871
|
0.06110
|
NM_024334.3(TMEM43):c.*719G>T
|
rs3796308
|
0.05531
|
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)
|
rs79241126
|
0.05477
|
NM_003239.5(TGFB3):c.-614C>T
|
rs11466414
|
0.04715
|
NM_024334.3(TMEM43):c.*312A>C
|
rs11920099
|
0.04223
|
NM_024334.3(TMEM43):c.*277C>T
|
rs11943
|
0.03059
|
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)
|
rs17604693
|
0.02655
|
NM_001035.3(RYR2):c.8437-7dup
|
rs148246251
|
0.02544
|
NM_024334.3(TMEM43):c.*924T>C
|
rs79741000
|
0.02523
|
NM_024334.3(TMEM43):c.*217G>A
|
rs116757981
|
0.02517
|
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)
|
rs41315858
|
0.01767
|
NM_004415.4(DSP):c.*276_*278del
|
rs144440643
|
0.01744
|
NM_003239.5(TGFB3):c.-543T>A
|
rs74448762
|
0.01331
|
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)
|
rs80325569
|
0.01244
|
NM_024334.3(TMEM43):c.*1160A>G
|
rs9842062
|
0.01099
|
NM_004628.5(XPC):c.*192T>C
|
rs3731178
|
0.01085
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01077
|
NM_001035.3(RYR2):c.11880+13_11880+16del
|
rs199562036
|
0.01032
|
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val)
|
rs62001016
|
0.01013
|
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile)
|
rs2230235
|
0.00917
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)
|
rs56219475
|
0.00787
|
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)
|
rs59887778
|
0.00758
|
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
|
rs143004808
|
0.00716
|
NM_004415.4(DSP):c.2673T>C (p.Tyr891=)
|
rs146407262
|
0.00703
|
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)
|
rs34884895
|
0.00701
|
NM_001005242.3(PKP2):c.*48dup
|
rs369140281
|
0.00677
|
NM_004415.4(DSP):c.*9T>A
|
rs11558732
|
0.00645
|
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)
|
rs114026724
|
0.00598
|
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser)
|
rs113902911
|
0.00572
|
NM_024334.3(TMEM43):c.*1054_*1058del
|
rs550702296
|
0.00553
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00550
|
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)
|
rs35028636
|
0.00535
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)
|
rs147240502
|
0.00417
|
NM_024334.3(TMEM43):c.*806A>C
|
rs58476065
|
0.00408
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00396
|
NM_001943.5(DSG2):c.*131C>T
|
rs146873880
|
0.00328
|
NM_024422.6(DSC2):c.*1237G>A
|
rs28530723
|
0.00292
|
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=)
|
rs190537182
|
0.00281
|
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser)
|
rs77758574
|
0.00270
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_020297.4(ABCC9):c.407-14C>A
|
rs201279882
|
0.00248
|
NM_024422.6(DSC2):c.*185A>G
|
rs147458812
|
0.00227
|
NM_024334.3(TMEM43):c.*8C>T
|
rs192707412
|
0.00225
|
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=)
|
rs147060179
|
0.00220
|
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)
|
rs142429411
|
0.00214
|
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_001943.5(DSG2):c.*989C>T
|
rs140755940
|
0.00172
|
NM_002471.4(MYH6):c.3979-2A>C
|
rs1158854454
|
0.00172
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala)
|
rs139851304
|
0.00142
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu)
|
rs200875379
|
0.00105
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00104
|
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)
|
rs138329459
|
0.00103
|
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)
|
rs199473025
|
0.00098
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)
|
rs142047577
|
0.00092
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)
|
rs28763970
|
0.00087
|
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg)
|
rs142951029
|
0.00083
|
NM_024422.6(DSC2):c.*1104G>A
|
rs186055396
|
0.00080
|
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)
|
rs28763971
|
0.00077
|
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val)
|
rs144054367
|
0.00060
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)
|
rs142410803
|
0.00045
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu)
|
rs185913848
|
0.00039
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
|
rs184154918
|
0.00037
|
NM_002230.4(JUP):c.1366G>A (p.Val456Ile)
|
rs78437817
|
0.00036
|
NM_001943.5(DSG2):c.*1036C>G
|
rs191443311
|
0.00032
|
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)
|
rs202063433
|
0.00032
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_004415.4(DSP):c.1154C>T (p.Ala385Val)
|
rs146737031
|
0.00027
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00026
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
NM_000335.5(SCN5A):c.998+5G>A
|
rs187531872
|
0.00019
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
NM_001267550.2(TTN):c.36936A>T (p.Lys12312Asn)
|
rs765517955
|
0.00016
|
NM_001943.5(DSG2):c.*2034C>T
|
rs886053738
|
0.00016
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)
|
rs143413607
|
0.00016
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
NM_001032283.3(TMPO):c.565+2376C>T
|
rs202035749
|
0.00015
|
NM_003239.5(TGFB3):c.-547dup
|
rs886050802
|
0.00014
|
NM_004415.3(DSP):c.-281C>T
|
rs547069600
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)
|
rs72650035
|
0.00013
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
NM_017636.4(TRPM4):c.1139C>T (p.Ala380Val)
|
rs150894548
|
0.00011
|
NM_001035.3(RYR2):c.13957-5C>G
|
rs189772599
|
0.00010
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
NM_004415.4(DSP):c.5304G>C (p.Gly1768=)
|
rs530612211
|
0.00010
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)
|
rs151010429
|
0.00010
|
NM_003239.5(TGFB3):c.*185C>T
|
rs3917216
|
0.00009
|
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)
|
rs373600053
|
0.00007
|
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)
|
rs144106775
|
0.00007
|
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu)
|
rs777446804
|
0.00007
|
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
|
rs199473044
|
0.00006
|
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)
|
rs145324631
|
0.00006
|
NM_001005242.3(PKP2):c.968_969del (p.Gln323fs)
|
rs745882420
|
0.00006
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
|
rs551034751
|
0.00006
|
NM_002230.4(JUP):c.1055-14del
|
rs140002183
|
0.00006
|
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del)
|
rs782439900
|
0.00006
|
NM_003803.4(MYOM1):c.2138G>A (p.Arg713His)
|
rs183881662
|
0.00006
|
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)
|
rs535762713
|
0.00006
|
NM_004415.4(DSP):c.7548G>A (p.Arg2516=)
|
rs756527780
|
0.00006
|
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)
|
rs193922707
|
0.00006
|
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)
|
rs199567559
|
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_001943.5(DSG2):c.2471G>A (p.Arg824His)
|
rs376858770
|
0.00005
|
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)
|
rs201040643
|
0.00005
|
NM_002230.4(JUP):c.560C>T (p.Ala187Val)
|
rs782370709
|
0.00005
|
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu)
|
rs587782936
|
0.00005
|
NM_004628.5(XPC):c.2421-11T>C
|
rs3731167
|
0.00005
|
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)
|
rs879255385
|
0.00005
|
NM_000219.6(KCNE1):c.127G>A (p.Glu43Lys)
|
rs755781709
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2022G>A
|
rs111450489
|
0.00004
|
NM_001005242.3(PKP2):c.2357+1G>A
|
rs111517471
|
0.00004
|
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val)
|
rs754805893
|
0.00004
|
NM_001134363.3(RBM20):c.2371C>T (p.Arg791Trp)
|
rs529403382
|
0.00004
|
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val)
|
rs373598034
|
0.00004
|
NM_004415.4(DSP):c.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_004415.4(DSP):c.4752G>A (p.Ala1584=)
|
rs201213622
|
0.00004
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
NM_004628.5(XPC):c.*133G>A
|
rs377250919
|
0.00004
|
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)
|
rs777688726
|
0.00004
|
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr)
|
rs978623916
|
0.00004
|
NM_000257.4(MYH7):c.2599G>A (p.Glu867Lys)
|
rs558673680
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys)
|
rs763004638
|
0.00003
|
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu)
|
rs763845436
|
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.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
NM_024334.3(TMEM43):c.*849T>C
|
rs886058034
|
0.00003
|
NM_024422.6(DSC2):c.*166C>G
|
rs886053692
|
0.00003
|
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys)
|
rs769787593
|
0.00003
|
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)
|
rs145476705
|
0.00003
|
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter)
|
rs201273719
|
0.00003
|
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn)
|
rs759284746
|
0.00002
|
NM_001005242.3(PKP2):c.*1220A>G
|
rs886049306
|
0.00002
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
NM_001035.3(RYR2):c.11039+7T>C
|
rs569571855
|
0.00002
|
NM_001035.3(RYR2):c.3484G>A (p.Val1162Met)
|
rs377030538
|
0.00002
|
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val)
|
rs370141970
|
0.00002
|
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu)
|
rs730880123
|
0.00002
|
NM_001267550.2(TTN):c.78508G>A (p.Gly26170Ser)
|
rs781248790
|
0.00002
|
NM_001943.5(DSG2):c.1014+7A>G
|
rs756562276
|
0.00002
|
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys)
|
rs121913012
|
0.00002
|
NM_002230.4(JUP):c.*19G>A
|
rs782012233
|
0.00002
|
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)
|
rs782058451
|
0.00002
|
NM_003239.5(TGFB3):c.796C>T (p.Arg266Cys)
|
rs770911263
|
0.00002
|
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)
|
rs200243976
|
0.00002
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
NM_024422.6(DSC2):c.*784G>T
|
rs1613246
|
0.00002
|
NM_024422.6(DSC2):c.2664G>T (p.Glu888Asp)
|
rs748675400
|
0.00002
|
NM_024422.6(DSC2):c.824C>T (p.Thr275Met)
|
rs397517404
|
0.00002
|
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)
|
rs373514686
|
0.00001
|
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His)
|
rs566251672
|
0.00001
|
NM_000335.5(SCN5A):c.4514C>T (p.Pro1505Leu)
|
rs766554531
|
0.00001
|
NM_001005242.3(PKP2):c.1034+1G>A
|
rs869025496
|
0.00001
|
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)
|
rs397516986
|
0.00001
|
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)
|
rs766209297
|
0.00001
|
NM_001005242.3(PKP2):c.1363A>G (p.Lys455Glu)
|
rs1649395606
|
0.00001
|
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln)
|
rs755076586
|
0.00001
|
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)
|
rs397517012
|
0.00001
|
NM_001005242.3(PKP2):c.1840-5G>C
|
rs752016948
|
0.00001
|
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys)
|
rs781739949
|
0.00001
|
NM_001005242.3(PKP2):c.533dup (p.His179fs)
|
rs769220833
|
0.00001
|
NM_001035.3(RYR2):c.10987C>T (p.Pro3663Ser)
|
rs1299197961
|
0.00001
|
NM_001035.3(RYR2):c.11968G>A (p.Val3990Ile)
|
rs1210103464
|
0.00001
|
NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser)
|
rs1330847491
|
0.00001
|
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)
|
rs779666612
|
0.00001
|
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)
|
rs748716535
|
0.00001
|
NM_001035.3(RYR2):c.1424A>G (p.Lys475Arg)
|
rs750510651
|
0.00001
|
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys)
|
rs748762074
|
0.00001
|
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)
|
rs371157868
|
0.00001
|
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu)
|
rs769384124
|
0.00001
|
NM_001105206.3(LAMA4):c.4607G>T (p.Gly1536Val)
|
rs368316926
|
0.00001
|
NM_001148.6(ANK2):c.7247G>A (p.Arg2416Gln)
|
rs766001488
|
0.00001
|
NM_001267550.2(TTN):c.56963-3C>T
|
rs375979145
|
0.00001
|
NM_001943.5(DSG2):c.*599_*600del
|
rs1491095224
|
0.00001
|
NM_001943.5(DSG2):c.1014+1G>A
|
rs587782939
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly)
|
rs730880077
|
0.00001
|
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys)
|
rs200484060
|
0.00001
|
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)
|
rs727502989
|
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_001943.5(DSG2):c.391G>A (p.Ala131Thr)
|
rs373542380
|
0.00001
|
NM_001943.5(DSG2):c.445G>A (p.Val149Ile)
|
rs372606274
|
0.00001
|
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu)
|
rs587782938
|
0.00001
|
NM_001943.5(DSG2):c.523+2T>C
|
rs397516709
|
0.00001
|
NM_001943.5(DSG2):c.653G>A (p.Gly218Glu)
|
rs794728082
|
0.00001
|
NM_001943.5(DSG2):c.792T>A (p.Asp264Glu)
|
rs869025388
|
0.00001
|
NM_001943.5(DSG2):c.82-1G>A
|
rs746353565
|
0.00001
|
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)
|
rs770921270
|
0.00001
|
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)
|
rs752432726
|
0.00001
|
NM_002230.4(JUP):c.1500A>T (p.Ala500=)
|
rs869025443
|
0.00001
|
NM_003239.5(TGFB3):c.521T>A (p.Leu174His)
|
rs869025534
|
0.00001
|
NM_003239.5(TGFB3):c.916T>C (p.Tyr306His)
|
rs1299759608
|
0.00001
|
NM_004415.4(DSP):c.2436+2T>C
|
rs774514264
|
0.00001
|
NM_004415.4(DSP):c.265G>A (p.Val89Met)
|
rs766022243
|
0.00001
|
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)
|
rs397516940
|
0.00001
|
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)
|
rs763355815
|
0.00001
|
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)
|
rs759982048
|
0.00001
|
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser)
|
rs869025396
|
0.00001
|
NM_004415.4(DSP):c.939+1G>A
|
rs727504443
|
0.00001
|
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr)
|
rs555913548
|
0.00001
|
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)
|
rs727504823
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr)
|
rs773215003
|
0.00001
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
NM_000335.5(SCN5A):c.2383G>C (p.Glu795Gln)
|
|
|
NM_001005242.3(PKP2):c.*1023C>T
|
rs886049309
|
|
NM_001005242.3(PKP2):c.*1048G>T
|
rs886049308
|
|
NM_001005242.3(PKP2):c.*1159A>T
|
rs886049307
|
|
NM_001005242.3(PKP2):c.*1199del
|
rs11476598
|
|
NM_001005242.3(PKP2):c.*1311del
|
rs3833501
|
|
NM_001005242.3(PKP2):c.*320C>A
|
rs886049315
|
|
NM_001005242.3(PKP2):c.*578_*583dup
|
rs137947383
|
|
NM_001005242.3(PKP2):c.*579C>A
|
rs886049314
|
|
NM_001005242.3(PKP2):c.*753C>G
|
rs886049313
|
|
NM_001005242.3(PKP2):c.*910C>A
|
rs886049312
|
|
NM_001005242.3(PKP2):c.*953C>A
|
rs886049311
|
|
NM_001005242.3(PKP2):c.*962C>A
|
rs886049310
|
|
NM_001005242.3(PKP2):c.-15G>T
|
rs886049325
|
|
NM_001005242.3(PKP2):c.1034+1del
|
rs1555148011
|
|
NM_001005242.3(PKP2):c.1035-1G>A
|
rs1555147210
|
|
NM_001005242.3(PKP2):c.1079T>C (p.Leu360Pro)
|
rs730880180
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
NM_001005242.3(PKP2):c.1170+2T>A
|
rs397516987
|
|
NM_001005242.3(PKP2):c.1211dup (p.Val406fs)
|
rs397516989
|
|
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs)
|
rs1956690062
|
|
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.1379-2027A>G
|
rs778247181
|
|
NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer)
|
rs794729126
|
|
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.1584del (p.Arg529fs)
|
rs1592738654
|
|
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.1755del (p.Asn585fs)
|
rs2137777604
|
|
NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter)
|
rs1555142971
|
|
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.187A>C (p.Thr63Pro)
|
rs886049324
|
|
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter)
|
rs193922673
|
|
NM_001005242.3(PKP2):c.1904del (p.His635fs)
|
rs2137773640
|
|
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.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
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.256dup (p.Tyr86fs)
|
rs794729120
|
|
NM_001005242.3(PKP2):c.269_272del (p.Leu90fs)
|
rs397517025
|
|
NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer)
|
rs1555148259
|
|
NM_001005242.3(PKP2):c.337-2A>T
|
rs786204389
|
|
NM_001005242.3(PKP2):c.337-5T>G
|
rs2137951361
|
|
NM_001005242.3(PKP2):c.470A>T (p.Glu157Val)
|
rs886049323
|
|
NM_001005242.3(PKP2):c.654_655del (p.His218fs)
|
rs1591828796
|
|
NM_001005242.3(PKP2):c.681C>G (p.Ser227Arg)
|
rs762263587
|
|
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter)
|
rs727504430
|
|
NM_001005242.3(PKP2):c.861del (p.Arg287fs)
|
rs2137947261
|
|
NM_001005242.3(PKP2):c.938del (p.Ser313fs)
|
rs2137946556
|
|
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_001005242.3(PKP2):c.983dup (p.Ser329fs)
|
rs786205353
|
|
NM_001035.3(RYR2):c.*1023G>T
|
rs886046304
|
|
NM_001035.3(RYR2):c.*1065A>G
|
rs886046305
|
|
NM_001035.3(RYR2):c.*1070G>T
|
rs886046306
|
|
NM_001035.3(RYR2):c.*167_*168dup
|
rs886046284
|
|
NM_001035.3(RYR2):c.*187C>A
|
rs886046285
|
|
NM_001035.3(RYR2):c.*206C>A
|
rs886046286
|
|
NM_001035.3(RYR2):c.*272C>A
|
rs886046287
|
|
NM_001035.3(RYR2):c.*354A>G
|
rs886046289
|
|
NM_001035.3(RYR2):c.*378C>A
|
rs886046290
|
|
NM_001035.3(RYR2):c.*578del
|
rs113047070
|
|
NM_001035.3(RYR2):c.*578dup
|
rs113047070
|
|
NM_001035.3(RYR2):c.*642A>C
|
rs886046297
|
|
NM_001035.3(RYR2):c.*646del
|
rs377407067
|
|
NM_001035.3(RYR2):c.*646dup
|
rs377407067
|
|
NM_001035.3(RYR2):c.*715_*716insGC
|
rs886046302
|
|
NM_001035.3(RYR2):c.*716del
|
rs397983403
|
|
NM_001035.3(RYR2):c.*716dup
|
rs397983403
|
|
NM_001035.3(RYR2):c.*717GCCCCC[1]
|
rs886046299
|
|
NM_001035.3(RYR2):c.*79C>A
|
rs886046282
|
|
NM_001035.3(RYR2):c.*84del
|
rs764277833
|
|
NM_001035.3(RYR2):c.*890_*893dup
|
rs10667874
|
|
NM_001035.3(RYR2):c.-20C>A
|
rs778527185
|
|
NM_001035.3(RYR2):c.-27C>A
|
rs886046260
|
|
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)
|
rs786205455
|
|
NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly)
|
rs1553453324
|
|
NM_001035.3(RYR2):c.10323+13dup
|
rs886046276
|
|
NM_001035.3(RYR2):c.10766A>C (p.Lys3589Thr)
|
rs730880195
|
|
NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr)
|
rs1374577335
|
|
NM_001035.3(RYR2):c.11754C>A (p.Asn3918Lys)
|
rs886046278
|
|
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp)
|
rs371680410
|
|
NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu)
|
rs869025514
|
|
NM_001035.3(RYR2):c.13994G>A (p.Arg4665Lys)
|
rs1299849256
|
|
NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu)
|
rs2149404327
|
|
NM_001035.3(RYR2):c.14464C>G (p.Arg4822Gly)
|
rs876657986
|
|
NM_001035.3(RYR2):c.2204-10C>A
|
rs886046264
|
|
NM_001035.3(RYR2):c.4459A>C (p.Met1487Leu)
|
rs1278512393
|
|
NM_001035.3(RYR2):c.4597-11del
|
rs3841805
|
|
NM_001035.3(RYR2):c.4867G>T (p.Asp1623Tyr)
|
rs1194621692
|
|
NM_001035.3(RYR2):c.4920C>A (p.Asp1640Glu)
|
rs886046267
|
|
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=)
|
rs727504997
|
|
NM_001035.3(RYR2):c.5078A>G (p.Tyr1693Cys)
|
rs886046268
|
|
NM_001035.3(RYR2):c.5288T>G (p.Phe1763Cys)
|
rs1057518518
|
|
NM_001035.3(RYR2):c.5306T>C (p.Val1769Ala)
|
rs1553522244
|
|
NM_001035.3(RYR2):c.6314C>T (p.Thr2105Ile)
|
rs2148667252
|
|
NM_001035.3(RYR2):c.7093A>G (p.Asn2365Asp)
|
rs2148728656
|
|
NM_001035.3(RYR2):c.7382G>A (p.Cys2461Tyr)
|
rs373193260
|
|
NM_001035.3(RYR2):c.7859A>G (p.Tyr2620Cys)
|
rs1683039143
|
|
NM_001035.3(RYR2):c.8048C>T (p.Ser2683Leu)
|
rs776621043
|
|
NM_001035.3(RYR2):c.8390G>A (p.Ser2797Asn)
|
rs2148846582
|
|
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter)
|
rs770335717
|
|
NM_001134363.3(RBM20):c.2338G>C (p.Gly780Arg)
|
rs750988872
|
|
NM_001267550.2(TTN):c.752A>G (p.His251Arg)
|
rs587782983
|
|
NM_001318895.3(FHL2):c.715T>G (p.Phe239Val)
|
rs869025433
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001927.4(DES):c.1315G>A (p.Glu439Lys)
|
rs1114167347
|
|
NM_001927.4(DES):c.365A>G (p.Tyr122Cys)
|
rs1400593451
|
|
NM_001927.4(DES):c.380G>C (p.Arg127Pro)
|
rs397516694
|
|
NM_001927.4(DES):c.985C>T (p.Gln329Ter)
|
rs759320891
|
|
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.*1714_*1715dup
|
rs10645928
|
|
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.*601TG[7]
|
rs36022761
|
|
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.*960dup
|
rs200149790
|
|
NM_001943.5(DSG2):c.-44C>A
|
rs886053710
|
|
NM_001943.5(DSG2):c.-4T>G
|
rs886053711
|
|
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer)
|
rs745457570
|
|
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del)
|
rs727502987
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
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.1919_1932del (p.Gly640fs)
|
rs754133577
|
|
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)
|
rs121913010
|
|
NM_001943.5(DSG2):c.2551del (p.Ile851fs)
|
rs763907170
|
|
NM_001943.5(DSG2):c.2659A>G (p.Ser887Gly)
|
rs1598826780
|
|
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)
|
rs201786158
|
|
NM_001943.5(DSG2):c.323C>G (p.Thr108Ser)
|
rs1284705376
|
|
NM_001943.5(DSG2):c.828+10A>C
|
rs886053712
|
|
NM_001943.5(DSG2):c.829-3C>A
|
rs1295936995
|
|
NM_001943.5(DSG2):c.882dup (p.Val295fs)
|
rs1187924885
|
|
NM_001943.5(DSG2):c.941C>A (p.Ser314Ter)
|
rs397516712
|
|
NM_002230.4(JUP):c.1408G>A (p.Glu470Lys)
|
rs1555602080
|
|
NM_002230.4(JUP):c.1587A>G (p.Gln529=)
|
rs886052919
|
|
NM_002230.4(JUP):c.708-3C>A
|
rs1555604620
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
NM_002471.4(MYH6):c.2957G>A (p.Gly986Glu)
|
rs1369680809
|
|
NM_002834.5(PTPN11):c.1705T>C (p.Cys569Arg)
|
rs1420924484
|
|
NM_003239.5(TGFB3):c.-440CTT[2]
|
rs774422953
|
|
NM_003239.5(TGFB3):c.-536del
|
rs71451199
|
|
NM_003239.5(TGFB3):c.-536dup
|
rs71451199
|
|
NM_003239.5(TGFB3):c.854C>A (p.Pro285Gln)
|
rs1288935716
|
|
NM_004006.3(DMD):c.531-11_531-6del
|
rs758404687
|
|
NM_004006.3(DMD):c.891G>T (p.Lys297Asn)
|
rs1569467457
|
|
NM_004415.3(DSP):c.-260A>G
|
rs886061738
|
|
NM_004415.4(DSP):c.*300C>A
|
rs886061750
|
|
NM_004415.4(DSP):c.*305C>A
|
rs886061751
|
|
NM_004415.4(DSP):c.*384C>A
|
rs886061753
|
|
NM_004415.4(DSP):c.*386G>T
|
rs886061754
|
|
NM_004415.4(DSP):c.*598G>T
|
rs886061756
|
|
NM_004415.4(DSP):c.*681C>A
|
rs886061757
|
|
NM_004415.4(DSP):c.-179T>C
|
rs886061741
|
|
NM_004415.4(DSP):c.-190G>T
|
rs886061740
|
|
NM_004415.4(DSP):c.-228C>A
|
rs886061739
|
|
NM_004415.4(DSP):c.-36C>A
|
rs886061743
|
|
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.1627A>C (p.Asn543His)
|
rs917602533
|
|
NM_004415.4(DSP):c.1650G>A (p.Trp550Ter)
|
rs397516919
|
|
NM_004415.4(DSP):c.1751del (p.Glu584fs)
|
rs727505077
|
|
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
|
rs1581805658
|
|
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.214C>T (p.Gln72Ter)
|
rs397516923
|
|
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)
|
rs770105310
|
|
NM_004415.4(DSP):c.2437-1G>C
|
rs1057517903
|
|
NM_004415.4(DSP):c.2920del (p.Thr974fs)
|
rs727505260
|
|
NM_004415.4(DSP):c.2959T>C (p.Ser987Pro)
|
rs397516929
|
|
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs)
|
rs397516932
|
|
NM_004415.4(DSP):c.3526del (p.Val1176fs)
|
rs727505271
|
|
NM_004415.4(DSP):c.3679C>T (p.Gln1227Ter)
|
rs1581816089
|
|
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.4180C>T (p.Gln1394Ter)
|
rs140474226
|
|
NM_004415.4(DSP):c.4397dup (p.Gln1467fs)
|
rs1581817513
|
|
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)
|
rs397516943
|
|
NM_004415.4(DSP):c.4803G>A (p.Met1601Ile)
|
rs869025392
|
|
NM_004415.4(DSP):c.4857G>C (p.Leu1619=)
|
rs373385083
|
|
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)
|
rs1554108410
|
|
NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro)
|
rs767885673
|
|
NM_004415.4(DSP):c.5380-1G>A
|
rs1759474600
|
|
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter)
|
rs397516946
|
|
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)
|
rs869025395
|
|
NM_004415.4(DSP):c.5999del (p.Lys1999_Ser2000insTer)
|
rs2113699280
|
|
NM_004415.4(DSP):c.6167G>T (p.Gly2056Val)
|
rs2113699658
|
|
NM_004415.4(DSP):c.6273del (p.Ala2092fs)
|
rs794728146
|
|
NM_004415.4(DSP):c.65C>G (p.Ser22Cys)
|
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
NM_004415.4(DSP):c.7180_7181del (p.Arg2394fs)
|
rs2113701771
|
|
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe)
|
rs864309585
|
|
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del)
|
rs1473818298
|
|
NM_004415.4(DSP):c.793_794del (p.Arg265fs)
|
rs2113669181
|
|
NM_004415.4(DSP):c.919C>T (p.Gln307Ter)
|
rs1238227166
|
|
NM_004572.3(PKP2):c.(?_1689)_(1806_?)del
|
|
|
NM_004572.3(PKP2):c.-97_-93dup
|
rs886049329
|
|
NM_004628.5(XPC):c.*397_*400del
|
rs3731180
|
|
NM_004628.5(XPC):c.*611T>A
|
rs2470352
|
|
NM_004628.5(XPC):c.*684G>C
|
rs1126547
|
|
NM_005477.3(HCN4):c.2261A>G (p.His754Arg)
|
rs762856084
|
|
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del)
|
rs587777135
|
|
NM_020297.4(ABCC9):c.1884del (p.Phe628fs)
|
rs869025348
|
|
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT
|
rs869025349
|
|
NM_024334.3(TMEM43):c.*1080G>T
|
rs886058035
|
|
NM_024334.3(TMEM43):c.*1161C>A
|
rs886058036
|
|
NM_024334.3(TMEM43):c.*1352_*1357del
|
rs71699966
|
|
NM_024334.3(TMEM43):c.*1535T>C
|
rs886058038
|
|
NM_024334.3(TMEM43):c.*1584G>T
|
rs886058039
|
|
NM_024334.3(TMEM43):c.*1642T>G
|
rs886058040
|
|
NM_024334.3(TMEM43):c.*1677dup
|
rs886058041
|
|
NM_024334.3(TMEM43):c.*1700G>T
|
rs886058042
|
|
NM_024334.3(TMEM43):c.*270T>C
|
rs886058032
|
|
NM_024334.3(TMEM43):c.*766CAAAA[1]
|
rs141474582
|
|
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
|
rs63750743
|
|
NM_024334.3(TMEM43):c.346C>A (p.Arg116=)
|
rs752588115
|
|
NM_024334.3(TMEM43):c.584-4T>A
|
rs2124990773
|
|
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn)
|
rs570799464
|
|
NM_024422.6(DSC2):c.*1126G>T
|
rs886053687
|
|
NM_024422.6(DSC2):c.*1923C>A
|
rs886053682
|
|
NM_024422.6(DSC2):c.*640G>T
|
rs886053691
|
|
NM_024422.6(DSC2):c.*709CT[3]
|
rs886053690
|
|
NM_024422.6(DSC2):c.*764del
|
rs796836744
|
|
NM_024422.6(DSC2):c.*764dup
|
rs796836744
|
|
NM_024422.6(DSC2):c.*833G>C
|
rs886053689
|
|
NM_024422.6(DSC2):c.*934C>A
|
rs886053688
|
|
NM_024422.6(DSC2):c.-20A>C
|
rs886053696
|
|
NM_024422.6(DSC2):c.-392G>A
|
rs886053702
|
|
NM_024422.6(DSC2):c.-424G>T
|
rs555722283
|
|
NM_024422.6(DSC2):c.-42C>T
|
rs886053697
|
|
NM_024422.6(DSC2):c.154+1G>A
|
rs397517393
|
|
NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter)
|
rs887847751
|
|
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp)
|
rs1057518818
|
|
NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys)
|
rs180863872
|
|
NM_024422.6(DSC2):c.2251-3C>T
|
rs2144784605
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln)
|
rs61731921
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
NM_024422.6(DSC2):c.47G>C (p.Arg16Pro)
|
rs869025386
|
|
NM_024422.6(DSC2):c.501_502dup (p.Thr168fs)
|
rs2144839173
|
|
NM_024422.6(DSC2):c.713A>G (p.Asp238Gly)
|
rs2144833773
|
|
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del)
|
rs776784065
|
|
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter)
|
rs397517406
|
|
NM_024422.6(DSC2):c.942+13_942+15dup
|
rs5823783
|
|
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer)
|
rs397517408
|
|
NM_133379.5(TTN):c.11794G>T (p.Glu3932Ter)
|
rs869025543
|
|