NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
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.2429G>A (p.Arg810His)
|
rs375675796
|
0.00005
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
NM_000258.3(MYL3):c.466G>A (p.Val156Met)
|
rs199474707
|
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_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
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_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)
|
rs794729474
|
0.00003
|
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
|
rs483352832
|
0.00003
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00002
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)
|
rs730880923
|
0.00002
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00002
|
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)
|
rs767987619
|
0.00002
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile)
|
rs730880868
|
0.00001
|
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)
|
rs148808089
|
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.2536G>C (p.Glu846Gln)
|
rs730880748
|
0.00001
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln)
|
rs727504273
|
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_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.656G>A (p.Arg219His)
|
rs878855296
|
0.00001
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val)
|
rs727504285
|
0.00001
|
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)
|
rs199476316
|
0.00001
|
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
|
rs199476321
|
0.00001
|
NM_001256850.1(TTN):c.51809dup (p.Asp17270fs)
|
rs397517626
|
0.00001
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
NM_001267550.2(TTN):c.14194C>T (p.Gln4732Ter)
|
rs2081878770
|
0.00001
|
NM_001267550.2(TTN):c.57995del (p.His19332fs)
|
rs397517633
|
0.00001
|
NM_001267550.2(TTN):c.58732+2T>C
|
rs869312054
|
0.00001
|
NM_001267550.2(TTN):c.67349-2A>C
|
rs753948675
|
0.00001
|
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter)
|
rs869312085
|
0.00001
|
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile)
|
rs397516482
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter)
|
rs902082118
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NC_000012.12:g.32843315_32868927del
|
|
|
NM_000169.3(GLA):c.295del (p.Gln99fs)
|
rs886039136
|
|
NM_000169.3(GLA):c.613C>A (p.Pro205Thr)
|
rs397515870
|
|
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)
|
rs794727046
|
|
NM_000256.3(MYBPC3):c.1101_1129dup (p.Lys377delinsArgSerTrpSerArgProThrArgTer)
|
rs1565628520
|
|
NM_000256.3(MYBPC3):c.1168dup (p.His390fs)
|
rs397515889
|
|
NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val)
|
rs727503207
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.1351+2T>G
|
rs397515897
|
|
NM_000256.3(MYBPC3):c.1419dup (p.Glu474Ter)
|
rs2095890370
|
|
NM_000256.3(MYBPC3):c.1484G>T (p.Arg495Leu)
|
rs200411226
|
|
NM_000256.3(MYBPC3):c.1573del (p.Tyr525fs)
|
|
|
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.1591G>T (p.Gly531Trp)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.1624+1G>C
|
rs1252584025
|
|
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg)
|
rs730880695
|
|
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter)
|
rs730880546
|
|
NM_000256.3(MYBPC3):c.1806del (p.Ile603fs)
|
rs730880648
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
NM_000256.3(MYBPC3):c.1851dup (p.Pro618fs)
|
rs1565627145
|
|
NM_000256.3(MYBPC3):c.2058_2061dup (p.Thr688fs)
|
rs1565626367
|
|
NM_000256.3(MYBPC3):c.2068-2A>G
|
|
|
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs)
|
rs730880362
|
|
NM_000256.3(MYBPC3):c.2243dup (p.Tyr749fs)
|
rs2142856598
|
|
NM_000256.3(MYBPC3):c.2294_2295del (p.Thr765fs)
|
rs2142856521
|
|
NM_000256.3(MYBPC3):c.241_244del (p.Val81fs)
|
rs2142869406
|
|
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)
|
rs775404728
|
|
NM_000256.3(MYBPC3):c.2476del (p.Ile826fs)
|
rs2095883614
|
|
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs)
|
rs730880654
|
|
NM_000256.3(MYBPC3):c.2542del (p.Ala848fs)
|
|
|
NM_000256.3(MYBPC3):c.2560_2570del (p.Met854fs)
|
rs2095883336
|
|
NM_000256.3(MYBPC3):c.2603-1G>C
|
rs977277400
|
|
NM_000256.3(MYBPC3):c.2767del (p.Gly922_Leu923insTer)
|
rs2142853009
|
|
NM_000256.3(MYBPC3):c.2871del (p.Thr958fs)
|
rs2095880923
|
|
NM_000256.3(MYBPC3):c.2905+5G>T
|
rs193922381
|
|
NM_000256.3(MYBPC3):c.2906_2994del
|
|
|
NM_000256.3(MYBPC3):c.2919dup (p.Gln974fs)
|
rs1565623713
|
|
NM_000256.3(MYBPC3):c.292+1G>A
|
rs1433492944
|
|
NM_000256.3(MYBPC3):c.2994+1del
|
rs2095879886
|
|
NM_000256.3(MYBPC3):c.2995-2_2995-1del
|
rs2142851672
|
|
NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs)
|
rs1565631430
|
|
NM_000256.3(MYBPC3):c.3116_3120del (p.His1039fs)
|
rs1565623439
|
|
NM_000256.3(MYBPC3):c.3265_3269del (p.Pro1089fs)
|
|
|
NM_000256.3(MYBPC3):c.3268del (p.Gln1090fs)
|
rs2095879053
|
|
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter)
|
rs863225113
|
|
NM_000256.3(MYBPC3):c.333dup (p.Glu112Ter)
|
rs730880335
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000256.3(MYBPC3):c.3412del (p.Arg1138fs)
|
rs2095878612
|
|
NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs)
|
rs727504321
|
|
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.3620del (p.Ser1207fs)
|
rs2095878223
|
|
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)
|
|
|
NM_000256.3(MYBPC3):c.3752_3753del (p.Tyr1251fs)
|
rs2095877711
|
|
NM_000256.3(MYBPC3):c.3759dup (p.Arg1254fs)
|
rs2095877700
|
|
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del)
|
rs397516040
|
|
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter)
|
rs375607980
|
|
NM_000256.3(MYBPC3):c.605del (p.Lys202fs)
|
rs2095898456
|
|
NM_000256.3(MYBPC3):c.655-2A>G
|
rs1219818351
|
|
NM_000256.3(MYBPC3):c.773-7_773dup
|
|
|
NM_000256.3(MYBPC3):c.821+3G>T
|
rs727503213
|
|
NM_000256.3(MYBPC3):c.821+5G>A
|
rs397516077
|
|
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)
|
rs727503212
|
|
NM_000256.3(MYBPC3):c.897del (p.Lys301fs)
|
rs1555122928
|
|
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)
|
rs730880629
|
|
NM_000256.3(MYBPC3):c.93del (p.Glu32fs)
|
|
|
NM_000256.3:c.2855_3518del
|
|
|
NM_000256.3:c.2956_3519del
|
|
|
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.1216G>A (p.Val406Met)
|
rs1422611896
|
|
NM_000257.4(MYH7):c.2246T>A (p.Leu749Gln)
|
rs727504320
|
|
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn)
|
rs730880895
|
|
NM_000257.4(MYH7):c.2332G>C (p.Asp778His)
|
rs730880895
|
|
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)
|
rs2069544
|
|
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn)
|
rs397516154
|
|
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys)
|
rs730880750
|
|
NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu)
|
rs36211715
|
|
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val)
|
rs727503254
|
|
NM_000257.4(MYH7):c.2711G>A (p.Arg904His)
|
rs397516165
|
|
NM_000257.4(MYH7):c.2711G>T (p.Arg904Leu)
|
rs397516165
|
|
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys)
|
rs397516170
|
|
NM_000257.4(MYH7):c.2821C>T (p.Arg941Cys)
|
rs750435648
|
|
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.4402G>A (p.Glu1468Lys)
|
rs876657884
|
|
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)
|
rs45544633
|
|
NM_000257.4(MYH7):c.4663G>A (p.Glu1555Lys)
|
rs727505176
|
|
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu)
|
rs397516247
|
|
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)
|
rs397516254
|
|
NM_000257.4(MYH7):c.595G>A (p.Ala199Thr)
|
rs730880845
|
|
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)
|
rs397516258
|
|
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)
|
rs397516260
|
|
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)
|
rs397516269
|
|
NM_000257.4(MYH7):c.797A>G (p.Tyr266Cys)
|
rs2138680281
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
NM_000258.3(MYL3):c.466G>T (p.Val156Leu)
|
rs199474707
|
|
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)
|
rs730881069
|
|
NM_000363.5(TNNI3):c.485G>T (p.Arg162Leu)
|
rs397516354
|
|
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)
|
rs397516355
|
|
NM_000432.4(MYL2):c.193G>T (p.Glu65Ter)
|
rs397516398
|
|
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)
|
rs1566147422
|
|
NM_000432.4(MYL2):c.485G>A (p.Gly162Glu)
|
rs397516406
|
|
NM_000432.4(MYL2):c.491_495del (p.Glu164fs)
|
rs1592798444
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
NM_000432.4(MYL2):c.92_93+1del
|
rs751392310
|
|
NM_001005242.3(PKP2):c.1170+1G>A
|
rs786204392
|
|
NM_001005242.3(PKP2):c.1171-1_1556+1del
|
|
|
NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter)
|
rs1565590309
|
|
NM_001005242.3(PKP2):c.1300del (p.Ala434fs)
|
rs1956689333
|
|
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs)
|
rs397516992
|
|
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)
|
rs397517010
|
|
NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter)
|
rs1555142971
|
|
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs)
|
rs1555142963
|
|
NM_001005242.3(PKP2):c.1968del (p.Ala657fs)
|
rs1956374971
|
|
NM_001005242.3(PKP2):c.2084_2085del (p.His695fs)
|
|
|
NM_001005242.3(PKP2):c.223G>T (p.Gly75Ter)
|
|
|
NM_001005242.3(PKP2):c.636delinsAA (p.His213fs)
|
rs2137948943
|
|
NM_001005242.3(PKP2):c.954_984del (p.His318fs)
|
rs1956945634
|
|
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln)
|
rs727504290
|
|
NM_001018005.2(TPM1):c.85AAG[1] (p.Lys30del)
|
rs2031437544
|
|
NM_001035.3(RYR2):c.11934G>A (p.Met3978Ile)
|
rs794728826
|
|
NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala)
|
rs794728788
|
|
NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser)
|
rs794728803
|
|
NM_001035.3(RYR2):c.7459_7470del (p.Leu2487_Val2490del)
|
rs1682404578
|
|
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)
|
rs397516607
|
|
NM_001267550.2(TTN):c.100887G>A (p.Trp33629Ter)
|
rs1559051231
|
|
NM_001267550.2(TTN):c.101001T>A (p.Tyr33667Ter)
|
|
|
NM_001267550.2(TTN):c.102234_102235delinsGT (p.Arg34079Ter)
|
rs1690511212
|
|
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter)
|
rs2154134580
|
|
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter)
|
rs1553488049
|
|
NM_001267550.2(TTN):c.11657del (p.Asp3886fs)
|
rs397517826
|
|
NM_001267550.2(TTN):c.11913G>A (p.Trp3971Ter)
|
rs749961489
|
|
NM_001267550.2(TTN):c.12744_12745del (p.Arg4249fs)
|
rs2154318180
|
|
NM_001267550.2(TTN):c.12870dup (p.Val4291fs)
|
rs869025556
|
|
NM_001267550.2(TTN):c.13066_13087dup (p.Pro4363delinsHisHisTer)
|
rs2154317982
|
|
NM_001267550.2(TTN):c.1558del (p.Thr520fs)
|
rs1561445221
|
|
NM_001267550.2(TTN):c.2775+1G>T
|
rs1057346353
|
|
NM_001267550.2(TTN):c.3462C>G (p.Tyr1154Ter)
|
rs2154348959
|
|
NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter)
|
rs1561323791
|
|
NM_001267550.2(TTN):c.40537_40540del (p.Glu13513fs)
|
rs2061340651
|
|
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)
|
rs2060187635
|
|
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter)
|
rs745926057
|
|
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)
|
rs797046064
|
|
NM_001267550.2(TTN):c.43326_43327del (p.Gly14443fs)
|
rs2154222273
|
|
NM_001267550.2(TTN):c.43509del (p.Asp14505fs)
|
|
|
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter)
|
rs776970935
|
|
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
|
|
|
NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs)
|
rs1559873786
|
|
NM_001267550.2(TTN):c.45852_45853del (p.His15284fs)
|
rs1266824761
|
|
NM_001267550.2(TTN):c.46089_46090del (p.Cys15363fs)
|
rs2154211017
|
|
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)
|
rs368200299
|
|
NM_001267550.2(TTN):c.47142T>A (p.Cys15714Ter)
|
rs2154209488
|
|
NM_001267550.2(TTN):c.47211_47212del (p.Arg15737fs)
|
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.48212C>G (p.Ser16071Ter)
|
|
|
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)
|
rs397517601
|
|
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs)
|
rs886043718
|
|
NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter)
|
rs1559746821
|
|
NM_001267550.2(TTN):c.53002+2T>G
|
|
|
NM_001267550.2(TTN):c.53648G>A (p.Trp17883Ter)
|
rs1171413936
|
|
NM_001267550.2(TTN):c.54382-12_54387delinsCT
|
rs1559712733
|
|
NM_001267550.2(TTN):c.54811+1G>A
|
rs1205836993
|
|
NM_001267550.2(TTN):c.56741del (p.Ser18914fs)
|
rs1553663867
|
|
NM_001267550.2(TTN):c.57152del (p.Thr19051fs)
|
|
|
NM_001267550.2(TTN):c.57166G>T (p.Gly19056Ter)
|
|
|
NM_001267550.2(TTN):c.584-1G>T
|
|
|
NM_001267550.2(TTN):c.60099dup (p.Glu20034fs)
|
rs2050247265
|
|
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter)
|
rs1553644307
|
|
NM_001267550.2(TTN):c.60399del (p.Ser20134fs)
|
rs727504466
|
|
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)
|
rs869312055
|
|
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
|
rs794729278
|
|
NM_001267550.2(TTN):c.61898del (p.Leu20632_Leu20633insTer)
|
|
|
NM_001267550.2(TTN):c.62830del (p.Lys20943_Ile20944insTer)
|
|
|
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)
|
rs876657666
|
|
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter)
|
rs368452607
|
|
NM_001267550.2(TTN):c.63363_63367del (p.Ala21122fs)
|
rs1559556267
|
|
NM_001267550.2(TTN):c.63556delinsTA (p.Val21186fs)
|
rs2154182456
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
NM_001267550.2(TTN):c.64098del (p.Glu21366fs)
|
rs1576018303
|
|
NM_001267550.2(TTN):c.64828del (p.Ala21610fs)
|
|
|
NM_001267550.2(TTN):c.65697dup (p.Asp21900fs)
|
rs2154178712
|
|
NM_001267550.2(TTN):c.65796dup (p.Asp21933fs)
|
|
|
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter)
|
rs748313513
|
|
NM_001267550.2(TTN):c.66251dup (p.Ser22085fs)
|
rs2047912002
|
|
NM_001267550.2(TTN):c.66525_66528dup (p.Trp22177fs)
|
|
|
NM_001267550.2(TTN):c.67421del (p.Lys22474fs)
|
rs794729332
|
|
NM_001267550.2(TTN):c.67906_67909dup (p.Ser22637fs)
|
|
|
NM_001267550.2(TTN):c.68357del (p.Asn22786fs)
|
|
|
NM_001267550.2(TTN):c.69104dup (p.Thr23036fs)
|
rs1559469421
|
|
NM_001267550.2(TTN):c.69225T>A (p.Tyr23075Ter)
|
rs2046607104
|
|
NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)
|
|
|
NM_001267550.2(TTN):c.70069dup (p.Arg23357fs)
|
rs1709972937
|
|
NM_001267550.2(TTN):c.70420A>T (p.Lys23474Ter)
|
rs2154172475
|
|
NM_001267550.2(TTN):c.70745dup (p.Thr23583fs)
|
rs1559448864
|
|
NM_001267550.2(TTN):c.71202dup (p.Lys23735fs)
|
rs1553611989
|
|
NM_001267550.2(TTN):c.71329_71332dup (p.Ala23778fs)
|
rs1709484351
|
|
NM_001267550.2(TTN):c.72826del (p.Thr24276fs)
|
rs971618751
|
|
NM_001267550.2(TTN):c.73347del (p.Phe24449fs)
|
rs2154170352
|
|
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter)
|
rs2154169928
|
|
NM_001267550.2(TTN):c.74880_74883dup (p.Pro24962fs)
|
rs869312116
|
|
NM_001267550.2(TTN):c.7719_7720dup (p.Pro2574fs)
|
rs2154344521
|
|
NM_001267550.2(TTN):c.78063del (p.Val26022fs)
|
|
|
NM_001267550.2(TTN):c.78395_78396insG (p.Asp26132fs)
|
rs2154166489
|
|
NM_001267550.2(TTN):c.78588_78624dup (p.Glu26209fs)
|
rs1706342425
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs)
|
rs886038928
|
|
NM_001267550.2(TTN):c.8219G>A (p.Trp2740Ter)
|
|
|
NM_001267550.2(TTN):c.82912del (p.Glu27638fs)
|
|
|
NM_001267550.2(TTN):c.8324_8330delinsTT (p.Ser2775fs)
|
|
|
NM_001267550.2(TTN):c.84056C>A (p.Ser28019Ter)
|
rs769665204
|
|
NM_001267550.2(TTN):c.84504del (p.Lys28168fs)
|
rs1703692114
|
|
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter)
|
rs876657670
|
|
NM_001267550.2(TTN):c.85835C>A (p.Ser28612Ter)
|
|
|
NM_001267550.2(TTN):c.86152G>T (p.Gly28718Ter)
|
rs2154158315
|
|
NM_001267550.2(TTN):c.86290_86303delinsA (p.Leu28764fs)
|
rs1064792916
|
|
NM_001267550.2(TTN):c.87354del (p.Ala29119fs)
|
rs1559262463
|
|
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs)
|
rs1559192617
|
|
NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter)
|
rs1243301263
|
|
NM_001267550.2(TTN):c.93665_93668dup (p.Leu31224fs)
|
rs1697890809
|
|
NM_001267550.2(TTN):c.94634del (p.Arg31545fs)
|
rs1697365096
|
|
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)
|
rs1322596650
|
|
NM_001267550.2(TTN):c.95075dup (p.Asn31692fs)
|
rs1697077852
|
|
NM_001267550.2(TTN):c.95593_95594del (p.Asp31865fs)
|
|
|
NM_001267550.2(TTN):c.9571C>T (p.Gln3191Ter)
|
|
|
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)
|
rs746115846
|
|
NM_001267550.2(TTN):c.96266dup (p.Asn32089fs)
|
rs1695802877
|
|
NM_001267550.2(TTN):c.99103del (p.Val33035fs)
|
rs1559079166
|
|
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys)
|
rs397516465
|
|
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)
|
rs1558225569
|
|
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)
|
rs45586240
|
|
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)
|
rs863225119
|
|
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)
|
rs397516484
|
|
NM_001458.5(FLNC):c.2312del (p.Gly771fs)
|
|
|
NM_001458.5(FLNC):c.4288+1G>T
|
|
|
NM_001458.5(FLNC):c.5693del (p.Gly1898fs)
|
|
|
NM_001458.5(FLNC):c.7486del (p.Val2496fs)
|
|
|
NM_001927.4(DES):c.365A>G (p.Tyr122Cys)
|
rs1400593451
|
|
NM_001927.4(DES):c.948_952del (p.Lys318fs)
|
rs2125168194
|
|
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter)
|
rs1064793983
|
|
NM_001943.5(DSG2):c.3036_3037insG (p.Tyr1013fs)
|
rs2073310848
|
|
NM_001943.5(DSG2):c.523+1G>C
|
rs553299589
|
|
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)
|
rs794728093
|
|
NM_002230.4(JUP):c.1026dup (p.Ser343fs)
|
rs1915470891
|
|
NM_002294.3(LAMP2):c.98_101del (p.Asn32_Leu33insTer)
|
rs2147287662
|
|
NM_002667.5(PLN):c.63_64dup (p.Gln22fs)
|
rs794729138
|
|
NM_003476.5(CSRP3):c.111C>A (p.Cys37Ter)
|
rs1850628800
|
|
NM_003476.5(CSRP3):c.362del (p.Pro121fs)
|
rs1565050709
|
|
NM_003476.5(CSRP3):c.414+1G>T
|
rs935867046
|
|
NM_004415.4(DSP):c.1063C>T (p.Gln355Ter)
|
rs1561686893
|
|
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
|
rs397516915
|
|
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter)
|
rs761380979
|
|
NM_004415.4(DSP):c.1520C>T (p.Ser507Phe)
|
rs1240326550
|
|
NM_004415.4(DSP):c.171T>A (p.Cys57Ter)
|
rs1758487010
|
|
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
|
rs1581805658
|
|
NM_004415.4(DSP):c.2907del (p.Ser970fs)
|
rs2113688929
|
|
NM_004415.4(DSP):c.3451G>T (p.Glu1151Ter)
|
|
|
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter)
|
rs1759359916
|
|
NM_004415.4(DSP):c.4332dup (p.Gln1445fs)
|
rs1561698714
|
|
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs)
|
rs2113694673
|
|
NM_004415.4(DSP):c.5320_5321del (p.Gln1774fs)
|
|
|
NM_004415.4(DSP):c.6463delinsCT (p.Asp2155fs)
|
rs1561702549
|
|
NM_004415.4(DSP):c.6936_6957del (p.Glu2313fs)
|
rs2113701305
|
|
NM_004415.4(DSP):c.801_820dup (p.Asn274fs)
|
|
|
NM_004415.4(DSP):c.8029C>T (p.Gln2677Ter)
|
rs2113703930
|
|
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)
|
rs1566967399
|
|
NM_024422.6(DSC2):c.154+2T>A
|
|
|
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer)
|
rs397517408
|
|
NM_144573.4(NEXN):c.201G>A (p.Trp67Ter)
|
rs999958582
|
|
NM_170707.4(LMNA):c.1032dup (p.Met345fs)
|
|
|
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter)
|
rs1057515421
|
|
NM_170707.4(LMNA):c.1364_1365del (p.Arg455fs)
|
rs1651642668
|
|
NM_170707.4(LMNA):c.449C>T (p.Thr150Ile)
|
rs869069617
|
|
NM_170707.4(LMNA):c.936+2T>C
|
rs797045011
|
|
NM_170707.4(LMNA):c.991_992del (p.Arg331fs)
|
rs1553265647
|
|