NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)
|
rs199823175
|
0.00210
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)
|
rs727503234
|
0.00019
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg)
|
rs751650734
|
0.00015
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)
|
rs372731424
|
0.00010
|
NM_014000.3(VCL):c.829C>A (p.Leu277Met)
|
rs71579353
|
0.00010
|
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
|
rs727504355
|
0.00009
|
NM_005477.3(HCN4):c.724C>T (p.Arg242Cys)
|
rs745880598
|
0.00008
|
NM_005477.3(HCN4):c.520C>T (p.Pro174Ser)
|
rs542532555
|
0.00007
|
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)
|
rs377068202
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)
|
rs141873745
|
0.00006
|
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser)
|
rs775608046
|
0.00005
|
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)
|
rs727503195
|
0.00005
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)
|
rs375774648
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser)
|
rs2009813
|
0.00005
|
NM_145046.5(CALR3):c.217C>G (p.Arg73Gly)
|
rs199561391
|
0.00005
|
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)
|
rs773819168
|
0.00004
|
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His)
|
rs730880142
|
0.00004
|
NM_002471.4(MYH6):c.3476C>T (p.Thr1159Met)
|
rs780305056
|
0.00004
|
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)
|
rs565398652
|
0.00004
|
NM_017636.4(TRPM4):c.1603G>A (p.Glu535Lys)
|
rs748187859
|
0.00004
|
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)
|
rs375471260
|
0.00003
|
NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys)
|
rs374976635
|
0.00003
|
NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp)
|
rs371711564
|
0.00003
|
NM_000256.3(MYBPC3):c.927-2A>G
|
rs397516082
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser)
|
rs760218400
|
0.00003
|
NM_002471.4(MYH6):c.2827C>T (p.Arg943Cys)
|
rs368912844
|
0.00003
|
NM_003673.4(TCAP):c.259C>T (p.Arg87Trp)
|
rs777518512
|
0.00003
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
NM_000219.6(KCNE1):c.273C>G (p.Asp91Glu)
|
rs146614850
|
0.00002
|
NM_000256.3(MYBPC3):c.1458-6G>A
|
rs375347534
|
0.00002
|
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)
|
rs397515963
|
0.00002
|
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)
|
rs387907267
|
0.00002
|
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His)
|
rs376461745
|
0.00002
|
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met)
|
rs397516182
|
0.00002
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00002
|
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe)
|
rs375619307
|
0.00002
|
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys)
|
rs397516574
|
0.00002
|
NM_001148.6(ANK2):c.3652C>T (p.Pro1218Ser)
|
rs754740031
|
0.00002
|
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)
|
rs1436844070
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys)
|
rs766439553
|
0.00002
|
NM_003476.5(CSRP3):c.437G>A (p.Arg146His)
|
rs377066670
|
0.00002
|
NM_014000.3(VCL):c.220A>G (p.Met74Val)
|
rs1196607553
|
0.00002
|
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)
|
rs1800171
|
0.00001
|
NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu)
|
rs763031434
|
0.00001
|
NM_000238.4(KCNH2):c.778G>C (p.Ala260Pro)
|
rs1220897906
|
0.00001
|
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met)
|
rs772073491
|
0.00001
|
NM_000256.3(MYBPC3):c.1174G>A (p.Ala392Thr)
|
rs1019697151
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln)
|
rs397516003
|
0.00001
|
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)
|
rs121909377
|
0.00001
|
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)
|
rs368721523
|
0.00001
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
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.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)
|
rs36211715
|
0.00001
|
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)
|
rs397516179
|
0.00001
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His)
|
rs369058100
|
0.00001
|
NM_000335.5(SCN5A):c.5846A>G (p.Tyr1949Cys)
|
rs375614054
|
0.00001
|
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)
|
rs104894724
|
0.00001
|
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)
|
rs397516357
|
0.00001
|
NM_000890.5(KCNJ5):c.616G>A (p.Ala206Thr)
|
rs750424299
|
0.00001
|
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn)
|
rs397516391
|
0.00001
|
NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn)
|
rs372880584
|
0.00001
|
NM_001035.3(RYR2):c.1392C>A (p.His464Gln)
|
rs749032742
|
0.00001
|
NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys)
|
rs765369749
|
0.00001
|
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)
|
rs764144130
|
0.00001
|
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)
|
rs776874142
|
0.00001
|
NM_001267550.2(TTN):c.51436+1G>A
|
rs761807131
|
0.00001
|
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter)
|
rs926741242
|
0.00001
|
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)
|
rs397516456
|
0.00001
|
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)
|
rs367785431
|
0.00001
|
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn)
|
rs375169402
|
0.00001
|
NM_002471.4(MYH6):c.5072G>A (p.Arg1691His)
|
rs727504502
|
0.00001
|
NM_003098.3(SNTA1):c.368C>G (p.Ala123Gly)
|
rs755263941
|
0.00001
|
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp)
|
rs730881061
|
0.00001
|
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu)
|
rs1064793890
|
0.00001
|
NM_005120.3(MED12):c.1562G>A (p.Arg521His)
|
rs875989806
|
0.00001
|
NM_005751.5(AKAP9):c.2478A>G (p.Ile826Met)
|
rs777349648
|
0.00001
|
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)
|
rs367792378
|
0.00001
|
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)
|
rs121908987
|
0.00001
|
NM_017636.4(TRPM4):c.739A>T (p.Asn247Tyr)
|
rs1555752067
|
0.00001
|
NM_033118.4(MYLK2):c.1189A>G (p.Met397Val)
|
rs1490196764
|
0.00001
|
NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr)
|
rs1336353571
|
0.00001
|
NG_012570.1:g.7766_7770delTAGGTinsAA
|
rs875989809
|
|
NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg)
|
rs1554425569
|
|
NM_000238.4(KCNH2):c.2038del (p.Val680fs)
|
rs1554425498
|
|
NM_000238.4(KCNH2):c.3124C>G (p.Leu1042Val)
|
rs1346047270
|
|
NM_000256.3(MYBPC3):c.(2148+1_2149-1)_(2737+1_2738-1)del
|
|
|
NM_000256.3(MYBPC3):c.1142T>A (p.Ile381Asn)
|
rs1565628519
|
|
NM_000256.3(MYBPC3):c.1227-1G>T
|
rs113276889
|
|
NM_000256.3(MYBPC3):c.1393dup (p.Val465fs)
|
rs1565628078
|
|
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs)
|
rs886037900
|
|
NM_000256.3(MYBPC3):c.1928-2A>G
|
rs397515937
|
|
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter)
|
rs397515954
|
|
NM_000256.3(MYBPC3):c.2281C>T (p.Gln761Ter)
|
rs1565625795
|
|
NM_000256.3(MYBPC3):c.2308+1G>A
|
rs112738974
|
|
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)
|
rs727504288
|
|
NM_000256.3(MYBPC3):c.2543_2544dup (p.Val849fs)
|
rs1595843598
|
|
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs)
|
rs397515979
|
|
NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter)
|
rs190765116
|
|
NM_000256.3(MYBPC3):c.2737+1G>A
|
rs727504314
|
|
NM_000256.3(MYBPC3):c.2737+2_2737+3del
|
rs1265248322
|
|
NM_000256.3(MYBPC3):c.313del (p.Ala105fs)
|
rs1565631424
|
|
NM_000256.3(MYBPC3):c.3191-11_3193del
|
rs1565623216
|
|
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs)
|
rs730880672
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000256.3(MYBPC3):c.342_343del (p.Gly115fs)
|
rs1565631381
|
|
NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs)
|
rs1565622703
|
|
NM_000256.3(MYBPC3):c.482C>A (p.Pro161Gln)
|
rs1565631094
|
|
NM_000256.3(MYBPC3):c.505+5G>C
|
rs727503219
|
|
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs)
|
rs786204329
|
|
NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter)
|
rs774316050
|
|
NM_000256.3(MYBPC3):c.821+3G>T
|
rs727503213
|
|
NM_000256.3(MYBPC3):c.821+5G>A
|
rs397516077
|
|
NM_000256.3(MYBPC3):c.852-2A>G
|
rs1565629792
|
|
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)
|
rs397516080
|
|
NM_000256.3(MYBPC3):c.927_928delGG
|
rs886037902
|
|
NM_000257.4(MYH7):c.1128C>A (p.Asp376Glu)
|
rs2231126
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1325G>T (p.Arg442Leu)
|
rs730880870
|
|
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser)
|
rs730880159
|
|
NM_000257.4(MYH7):c.1351C>G (p.Gln451Glu)
|
rs730880871
|
|
NM_000257.4(MYH7):c.1400T>A (p.Ile467Asn)
|
rs730880872
|
|
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)
|
rs727504236
|
|
NM_000257.4(MYH7):c.2047G>C (p.Val683Leu)
|
rs1566532876
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)
|
rs727503261
|
|
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)
|
rs2069544
|
|
NM_000257.4(MYH7):c.2576T>C (p.Leu859Pro)
|
rs1566531421
|
|
NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys)
|
rs730880756
|
|
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.952A>C (p.Thr318Pro)
|
rs1566536436
|
|
NM_000257.4(MYH7):c.959T>A (p.Val320Glu)
|
rs1566536418
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
NM_000258.3(MYL3):c.452C>T (p.Ala151Val)
|
rs876657895
|
|
NM_000335.5(SCN5A):c.3792G>T (p.Lys1264Asn)
|
rs1553696666
|
|
NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe)
|
rs773216333
|
|
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp)
|
rs727503504
|
|
NM_000363.5(TNNI3):c.611G>A (p.Arg204His)
|
rs727504275
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
NM_001018005.1(TPM1):c.640_645del
|
rs1555409659
|
|
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln)
|
rs199476305
|
|
NM_001018005.2(TPM1):c.787C>G (p.Gln263Glu)
|
rs730881147
|
|
NM_001018005.2(TPM1):c.851T>C (p.Ile284Thr)
|
rs745520822
|
|
NM_001029896.2(WDR45):c.777del (p.Thr260fs)
|
rs875989804
|
|
NM_001035.3(RYR2):c.11230del (p.Ile3744fs)
|
rs1558350625
|
|
NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr)
|
rs1553322494
|
|
NM_001035.3(RYR2):c.14650A>G (p.Met4884Val)
|
rs1553341966
|
|
NM_001035.3(RYR2):c.4186G>A (p.Asp1396Asn)
|
rs1553515422
|
|
NM_001103.4(ACTN2):c.253C>T (p.Pro85Ser)
|
rs1558232396
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001127208.3(TET2):c.3678del (p.Ile1226fs)
|
|
|
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys)
|
rs1564664312
|
|
NM_001148.6(ANK2):c.6078A>T (p.Lys2026Asn)
|
rs759970012
|
|
NM_001199138.2(NLRC4):c.1021G>T (p.Val341Leu)
|
|
|
NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter)
|
rs1559047711
|
|
NM_001267550.2(TTN):c.101789del (p.Leu33930fs)
|
rs1575285509
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.11444del (p.Lys3815fs)
|
rs1574099951
|
|
NM_001267550.2(TTN):c.12057dup (p.Ser4020fs)
|
|
|
NM_001267550.2(TTN):c.12645del (p.Gln4215fs)
|
|
|
NM_001267550.2(TTN):c.13115del (p.Val4372fs)
|
rs2154317965
|
|
NM_001267550.2(TTN):c.13592C>G (p.Ser4531Ter)
|
rs2154317682
|
|
NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)
|
|
|
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter)
|
rs764654357
|
|
NM_001267550.2(TTN):c.50467_50468del (p.Gln16823fs)
|
|
|
NM_001267550.2(TTN):c.50533del (p.Ser16845fs)
|
|
|
NM_001267550.2(TTN):c.52334_52335del (p.Val17445fs)
|
rs2055522786
|
|
NM_001267550.2(TTN):c.52769G>A (p.Trp17590Ter)
|
|
|
NM_001267550.2(TTN):c.56145dup (p.Leu18716fs)
|
|
|
NM_001267550.2(TTN):c.57297del (p.Asp19100fs)
|
|
|
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)
|
rs869312055
|
|
NM_001267550.2(TTN):c.62581_62584dup (p.Leu20862fs)
|
|
|
NM_001267550.2(TTN):c.67157_67161dup (p.Asn22388delinsSerTer)
|
|
|
NM_001267550.2(TTN):c.67302T>G (p.Tyr22434Ter)
|
|
|
NM_001267550.2(TTN):c.67900G>T (p.Gly22634Ter)
|
|
|
NM_001267550.2(TTN):c.68737G>T (p.Glu22913Ter)
|
|
|
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)
|
rs1060500575
|
|
NM_001267550.2(TTN):c.81936_81937delinsAT (p.Asp27312_Gly27313delinsGluTer)
|
|
|
NM_001267550.2(TTN):c.83575_83579del (p.Lys27859fs)
|
|
|
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)
|
rs1553539995
|
|
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)
|
rs779129892
|
|
NM_001267550.2(TTN):c.93974C>A (p.Ser31325Ter)
|
|
|
NM_001267550.2(TTN):c.94805_94806del (p.Pro31602fs)
|
|
|
NM_001276345.2(TNNT2):c.307A>C (p.Lys103Gln)
|
rs730881122
|
|
NM_001276345.2(TNNT2):c.884G>A (p.Gly295Glu)
|
rs1272169178
|
|
NM_001289808.2(CRYAB):c.458C>T (p.Ser153Phe)
|
rs868980796
|
|
NM_001291867.2(NHS):c.694C>T (p.Gln232Ter)
|
rs875989805
|
|
NM_001330360.2(POLA1):c.254T>G (p.Ile85Ser)
|
rs1569271378
|
|
NM_001330360.2(POLA1):c.346G>A (p.Gly116Arg)
|
rs1569271892
|
|
NM_001330360.2(POLA1):c.4160C>T (p.Pro1387Leu)
|
rs1569350993
|
|
NM_001330360.2(POLA1):c.525+1G>A
|
rs1569277899
|
|
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter)
|
rs875989803
|
|
NM_001356.5(DDX3X):c.904G>A (p.Gly302Ser)
|
rs875989802
|
|
NM_001367916.1(MAGT1):c.842T>G (p.Leu281Ter)
|
rs1569547878
|
|
NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter)
|
rs1569547876
|
|
NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn)
|
rs373260156
|
|
NM_001370259.2(MEN1):c.762_768dup (p.Leu257fs)
|
rs1555165488
|
|
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del)
|
rs875989807
|
|
NM_001458.5(FLNC):c.1571A>G (p.Lys524Arg)
|
rs753176255
|
|
NM_001458.5(FLNC):c.2405del (p.Gly802fs)
|
|
|
NM_001458.5(FLNC):c.3908dup (p.Tyr1303Ter)
|
|
|
NM_001458.5(FLNC):c.3943C>T (p.Gln1315Ter)
|
|
|
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)
|
rs1562998062
|
|
NM_001458.5(FLNC):c.404G>A (p.Trp135Ter)
|
|
|
NM_001458.5(FLNC):c.4346C>G (p.Ser1449Ter)
|
|
|
NM_001458.5(FLNC):c.4581-2A>G
|
|
|
NM_001458.5(FLNC):c.4584dup (p.Phe1529fs)
|
|
|
NM_001458.5(FLNC):c.4708G>T (p.Gly1570Cys)
|
rs1562999563
|
|
NM_001458.5(FLNC):c.5142C>A (p.Tyr1714Ter)
|
|
|
NM_001458.5(FLNC):c.5503C>T (p.Gln1835Ter)
|
|
|
NM_001458.5(FLNC):c.617G>A (p.Trp206Ter)
|
|
|
NM_001458.5(FLNC):c.6742C>T (p.Gln2248Ter)
|
|
|
NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter)
|
|
|
NM_001458.5(FLNC):c.6947A>G (p.Lys2316Arg)
|
rs1563003855
|
|
NM_001458.5(FLNC):c.7316_7317del (p.Val2439fs)
|
|
|
NM_001458.5(FLNC):c.7427A>G (p.His2476Arg)
|
rs1563005164
|
|
NM_001458.5(FLNC):c.7581del (p.Ile2527fs)
|
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_003239.5(TGFB3):c.787G>C (p.Asp263His)
|
rs796051886
|
|
NM_003476.5(CSRP3):c.191G>T (p.Arg64Leu)
|
rs375014380
|
|
NM_004415.4(DSP):c.4166G>A (p.Ser1389Asn)
|
rs763523853
|
|
NM_004415.4(DSP):c.5570A>C (p.Lys1857Thr)
|
rs1178938416
|
|
NM_004588.5(SCN2B):c.332C>T (p.Ser111Leu)
|
rs868793059
|
|
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)
|
rs730880404
|
|
NM_005477.3(HCN4):c.1928T>G (p.Leu643Arg)
|
rs1555475541
|
|
NM_005573.4(LMNB1):c.124C>T (p.Arg42Trp)
|
rs1245844735
|
|
NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly)
|
rs935132421
|
|
NM_005573.4(LMNB1):c.939+1G>A
|
rs1751587092
|
|
NM_005573.4(LMNB1):c.939+2362_1491+560del
|
|
|
NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu)
|
rs1750497172
|
|
NM_005751.5(AKAP9):c.11682G>T (p.Gln3894His)
|
rs769718964
|
|
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)
|
rs387906702
|
|
NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu)
|
rs875989808
|
|
NM_016203.4(PRKAG2):c.1022T>C (p.Leu341Ser)
|
rs1563161306
|
|
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu)
|
rs193922697
|
|
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)
|
rs76757102
|
|
NM_016937.3(POLA1):c.445_507del
|
rs1569277866
|
|
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg)
|
rs398122909
|
|
NM_020297.4(ABCC9):c.2878G>C (p.Glu960Gln)
|
rs1025600293
|
|
NM_032578.4(MYPN):c.2189C>G (p.Thr730Arg)
|
rs373040567
|
|
NM_032578.4(MYPN):c.3006C>G (p.Cys1002Trp)
|
rs1321971649
|
|
NM_033118.4(MYLK2):c.1741C>T (p.Arg581Cys)
|
rs766199082
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_172201.2(KCNE2):c.285G>T (p.Lys95Asn)
|
rs1555837113
|
|
NM_181703.4(GJA5):c.586T>G (p.Cys196Gly)
|
rs1553226930
|
|
t(9;13)(q31.2;q22.1)
|
|
|