ClinVar Miner

List of variants studied for cardiomyopathy by Blueprint Genetics

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 678
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
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_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_032588.4(TRIM63):c.143C>T (p.Ala48Val) rs140523053 0.00128
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345 0.00121
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206 0.00100
NM_020433.5(JPH2):c.565G>A (p.Ala189Thr) rs730880254 0.00099
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025 0.00098
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs) rs749838192 0.00091
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001267550.2(TTN):c.2775+4G>A rs548681281 0.00086
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val) rs730880036 0.00071
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr) rs2234933 0.00062
NM_003803.4(MYOM1):c.4376T>A (p.Ile1459Lys) rs730880167 0.00061
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691 0.00052
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_004517.4(ILK):c.157T>A (p.Leu53Met) rs200336608 0.00049
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln) rs202076328 0.00033
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro) rs202063433 0.00032
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663 0.00030
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_001105206.3(LAMA4):c.2614C>G (p.Pro872Ala) rs180931319 0.00028
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_013266.4(CTNNA3):c.2573T>C (p.Leu858Ser) rs41313840 0.00028
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480 0.00025
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp) rs199867593 0.00024
NM_004006.3(DMD):c.1337A>G (p.His446Arg) rs72468699 0.00023
NM_000335.5(SCN5A):c.998+5G>A rs187531872 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_007078.3(LDB3):c.532C>G (p.Arg178Gly) rs730880128 0.00019
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) rs143501870 0.00018
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_002230.4(JUP):c.1924+8G>C rs730880115 0.00016
NM_002471.4(MYH6):c.67C>T (p.Arg23Cys) rs587782959 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=) rs368706722 0.00015
NM_013266.4(CTNNA3):c.457G>C (p.Ala153Pro) rs147116577 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu) rs730880184 0.00014
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003 0.00014
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001105206.3(LAMA4):c.3043G>C (p.Val1015Leu) rs730880122 0.00013
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val) rs368588052 0.00012
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys) rs147349145 0.00012
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val) rs730880170 0.00012
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr) rs397516720 0.00011
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_000257.4(MYH7):c.5786C>T (p.Thr1929Met) rs730880918 0.00010
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr) rs730880239 0.00010
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) rs727503239 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln) rs373979810 0.00010
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000432.4(MYL2):c.374C>T (p.Thr125Met) rs375667565 0.00009
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile) rs375533809 0.00009
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777 0.00009
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu) rs730880054 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_004517.4(ILK):c.962A>G (p.Asn321Ser) rs570806647 0.00009
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg) rs730880226 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_213569.2(NEBL):c.305C>T (p.Thr102Met) rs377492976 0.00009
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_001105206.3(LAMA4):c.2189G>A (p.Arg730His) rs781825990 0.00008
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) rs200153625 0.00008
NM_006393.3(NEBL):c.1255G>T (p.Glu419Ter) rs201103536 0.00008
NM_170707.4(LMNA):c.1381-5G>A rs730880133 0.00008
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg) rs750349613 0.00007
NM_014391.3(ANKRD1):c.820T>C (p.Tyr274His) rs377074932 0.00007
NM_032578.4(MYPN):c.2642A>T (p.Asn881Ile) rs71584493 0.00007
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys) rs368770848 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631 0.00006
NM_001105206.3(LAMA4):c.631A>C (p.Asn211His) rs371848733 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001386795.1(DTNA):c.1219G>T (p.Ala407Ser) rs760958673 0.00006
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751 0.00006
NM_002471.4(MYH6):c.1171C>A (p.Leu391Met) rs869025472 0.00006
NM_002471.4(MYH6):c.4216G>A (p.Val1406Met) rs201566738 0.00006
NM_003803.4(MYOM1):c.2138G>A (p.Arg713His) rs183881662 0.00006
NM_003803.4(MYOM1):c.4148T>C (p.Ile1383Thr) rs374491316 0.00006
NM_006440.5(TXNRD2):c.174C>T (p.Ala58=) rs767236339 0.00006
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln) rs759202535 0.00006
NM_032578.4(MYPN):c.3886T>A (p.Ser1296Thr) rs199585352 0.00006
NM_032588.4(TRIM63):c.224G>A (p.Cys75Tyr) rs200811483 0.00006
NM_133379.5(TTN):c.13939del (p.Glu4647fs) rs781363456 0.00006
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys) rs74315449 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335 0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436 0.00005
NM_002230.4(JUP):c.560C>T (p.Ala187Val) rs782370709 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu) rs587782936 0.00005
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser) rs548695484 0.00005
NM_144573.4(NEXN):c.865-5G>A rs727505353 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565 0.00004
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235 0.00004
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) rs730880142 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile) rs750117613 0.00004
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg) rs587782974 0.00004
NM_001103.4(ACTN2):c.1070G>A (p.Arg357His) rs730880041 0.00004
NM_001105206.3(LAMA4):c.3563T>G (p.Leu1188Arg) rs782291756 0.00004
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met) rs200977103 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.1550C>T (p.Pro517Leu) rs781988240 0.00004
NM_002230.4(JUP):c.1882G>A (p.Ala628Thr) rs730880114 0.00004
NM_002294.3(LAMP2):c.1137A>G (p.Ile379Met) rs730880126 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_004006.3(DMD):c.2251C>T (p.Arg751Trp) rs373475448 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_004415.4(DSP):c.598-4G>A rs747448946 0.00004
NM_005477.3(HCN4):c.559G>A (p.Ala187Thr) rs761571946 0.00004
NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser) rs730880129 0.00004
NM_013266.4(CTNNA3):c.2500C>T (p.Arg834Ter) rs202196166 0.00004
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter) rs199896820 0.00004
NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp) rs730880138 0.00003
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005 0.00003
NM_000257.4(MYH7):c.161G>A (p.Arg54Gln) rs397516117 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_001032283.3(TMPO):c.1237G>T (p.Val413Leu) rs115843977 0.00003
NM_001035.3(RYR2):c.8209-4T>C rs371966353 0.00003
NM_001134363.3(RBM20):c.2173G>A (p.Glu725Lys) rs190416018 0.00003
NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr) rs756434530 0.00003
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter) rs869025546 0.00003
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr) rs727505175 0.00003
NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys) rs371142225 0.00003
NM_001276345.2(TNNT2):c.883G>A (p.Gly295Arg) rs147940106 0.00003
NM_001289808.2(CRYAB):c.31C>T (p.Arg11Cys) rs781902168 0.00003
NM_001386795.1(DTNA):c.1965G>A (p.Met655Ile) rs749109824 0.00003
NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu) rs730880152 0.00003
NM_003476.5(CSRP3):c.112+1G>A rs746990436 0.00003
NM_003803.4(MYOM1):c.4799C>T (p.Pro1600Leu) rs372260768 0.00003
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr) rs869025394 0.00003
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_004517.4(ILK):c.734T>A (p.Phe245Tyr) rs869025438 0.00003
NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser) rs397517168 0.00003
NM_006440.5(TXNRD2):c.572G>A (p.Arg191Gln) rs730880248 0.00003
NM_013266.4(CTNNA3):c.232C>T (p.Gln78Ter) rs201306690 0.00003
NM_017636.4(TRPM4):c.3512G>A (p.Arg1171His) rs762615860 0.00003
NM_020297.4(ABCC9):c.1985T>C (p.Leu662Pro) rs869025346 0.00003
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp) rs139842014 0.00003
NM_024422.6(DSC2):c.1264-4G>A rs377439942 0.00003
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter) rs201273719 0.00003
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) rs372371774 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.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu) rs730880158 0.00002
NM_000257.4(MYH7):c.1856C>T (p.Thr619Ile) rs541143322 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000335.5(SCN5A):c.1975C>T (p.Arg659Trp) rs730880205 0.00002
NM_000335.5(SCN5A):c.328G>A (p.Ala110Thr) rs730880202 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_001005242.3(PKP2):c.1045A>G (p.Met349Val) rs199957846 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001032283.3(TMPO):c.248C>T (p.Ala83Val) rs730880228 0.00002
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser) rs727503400 0.00002
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val) rs869025513 0.00002
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu) rs730880123 0.00002
NM_001267550.2(TTN):c.29962+1G>T rs774961188 0.00002
NM_001267550.2(TTN):c.64072G>A (p.Val21358Met) rs371725212 0.00002
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu) rs587780983 0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_001927.4(DES):c.212C>T (p.Ala71Val) rs759235186 0.00002
NM_001943.5(DSG2):c.2623A>G (p.Met875Val) rs370316475 0.00002
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00002
NM_002471.4(MYH6):c.4918G>A (p.Glu1640Lys) rs748924413 0.00002
NM_003673.4(TCAP):c.421C>G (p.Pro141Ala) rs45509691 0.00002
NM_004281.4(BAG3):c.668C>G (p.Pro223Arg) rs754615028 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala) rs730880088 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004517.4(ILK):c.1180G>A (p.Asp394Asn) rs730880112 0.00002
NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter) rs200162480 0.00002
NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln) rs759374389 0.00002
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln) rs61857115 0.00002
NM_014476.6(PDLIM3):c.476T>A (p.Ile159Asn) rs730880177 0.00002
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp) rs770850932 0.00002
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu) rs730880227 0.00002
NM_024422.6(DSC2):c.1219G>T (p.Val407Leu) rs751861273 0.00002
NM_024422.6(DSC2):c.824C>T (p.Thr275Met) rs397517404 0.00002
NM_144573.4(NEXN):c.1400T>C (p.Ile467Thr) rs370195451 0.00002
NM_145046.5(CALR3):c.679-7T>C rs730880060 0.00002
NM_182914.3(SYNE2):c.9392A>G (p.Asp3131Gly) rs730880220 0.00002
NM_000116.5(TAFAZZIN):c.700-5C>T rs782731479 0.00001
NM_000117.3(EMD):c.406G>C (p.Asp136His) rs869025401 0.00001
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884 0.00001
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln) rs397515945 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3227A>G (p.Asp1076Gly) rs730880140 0.00001
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010 0.00001
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000256.3(MYBPC3):c.3781G>A (p.Glu1261Lys) rs730880141 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro) rs397516048 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.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.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000335.5(SCN5A):c.1036G>A (p.Glu346Lys) rs368552426 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His) rs566251672 0.00001
NM_000335.5(SCN5A):c.3371C>G (p.Ala1124Gly) rs730880206 0.00001
NM_000335.5(SCN5A):c.4514C>T (p.Pro1505Leu) rs766554531 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4672A>G (p.Ile1558Val) rs779999584 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_001005242.3(PKP2):c.1034+1G>A rs869025496 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001018005.2(TPM1):c.115-261C>T rs746952638 0.00001
NM_001018005.2(TPM1):c.240+4493G>A rs869025540 0.00001
NM_001018005.2(TPM1):c.257C>G (p.Ala86Gly) rs757577112 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001032283.3(TMPO):c.565+1485A>G rs730880229 0.00001
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe) rs377712921 0.00001
NM_001035.3(RYR2):c.12767T>C (p.Met4256Thr) rs530277653 0.00001
NM_001035.3(RYR2):c.14172G>C (p.Trp4724Cys) rs780752317 0.00001
NM_001035.3(RYR2):c.2203+3_2203+4dup rs730880376 0.00001
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys) rs730880191 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) rs730880194 0.00001
NM_001103.4(ACTN2):c.1906G>A (p.Glu636Lys) rs780431842 0.00001
NM_001105206.3(LAMA4):c.1121G>A (p.Ser374Asn) rs869025449 0.00001
NM_001105206.3(LAMA4):c.2576C>T (p.Thr859Met) rs730880121 0.00001
NM_001105206.3(LAMA4):c.814+7A>C rs730880124 0.00001
NM_001134363.3(RBM20):c.1281G>A (p.Trp427Ter) rs869025504 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg) rs376463335 0.00001
NM_001148.6(ANK2):c.7247G>A (p.Arg2416Gln) rs766001488 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) rs779948923 0.00001
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr) rs370728359 0.00001
NM_001267550.2(TTN):c.56963-3C>T rs375979145 0.00001
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala) rs587782985 0.00001
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) rs397516447 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001386795.1(DTNA):c.2200G>A (p.Asp734Asn) rs769251451 0.00001
NM_001943.5(DSG2):c.1014+1G>A rs587782939 0.00001
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946 0.00001
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) rs727505208 0.00001
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly) rs730880077 0.00001
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val) rs141388237 0.00001
NM_001943.5(DSG2):c.2335-7A>G rs528851283 0.00001
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu) rs587782938 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_002230.4(JUP):c.1500A>T (p.Ala500=) rs869025443 0.00001
NM_002471.4(MYH6):c.1663G>A (p.Asp555Asn) rs730880149 0.00001
NM_002471.4(MYH6):c.182C>T (p.Ala61Val) rs730880148 0.00001
NM_002471.4(MYH6):c.3133A>G (p.Lys1045Glu) rs869025474 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003239.5(TGFB3):c.521T>A (p.Leu174His) rs869025534 0.00001
NM_003476.5(CSRP3):c.197A>G (p.Tyr66Cys) rs397516854 0.00001
NM_003673.4(TCAP):c.49C>T (p.Arg17Cys) rs869025530 0.00001
NM_003803.4(MYOM1):c.3691C>T (p.Arg1231Cys) rs730880166 0.00001
NM_004006.3(DMD):c.2628A>T (p.Glu876Asp) rs869025382 0.00001
NM_004281.4(BAG3):c.322G>A (p.Val108Met) rs730880053 0.00001
NM_004281.4(BAG3):c.55C>T (p.Arg19Cys) rs727502896 0.00001
NM_004409.5(DMPK):c.161-189T>C rs752437441 0.00001
NM_004415.4(DSP):c.2597G>A (p.Arg866His) rs764965132 0.00001
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys) rs730880081 0.00001
NM_004415.4(DSP):c.265G>A (p.Val89Met) rs766022243 0.00001
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln) rs41302883 0.00001
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser) rs869025396 0.00001
NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr) rs749682166 0.00001
NM_006393.3(NEBL):c.503A>T (p.Gln168Leu) rs730880171 0.00001
NM_006440.5(TXNRD2):c.896G>A (p.Ser299Asn) rs779054925 0.00001
NM_007078.3(LDB3):c.172G>A (p.Asp58Asn) rs730880127 0.00001
NM_007078.3(LDB3):c.358C>A (p.Pro120Thr) rs587782955 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_013266.4(CTNNA3):c.1073C>A (p.Thr358Asn) rs751471841 0.00001
NM_014391.3(ANKRD1):c.896C>A (p.Thr299Asn) rs751174664 0.00001
NM_014476.6(PDLIM3):c.743G>A (p.Arg248His) rs377158204 0.00001
NM_015141.4(GPD1L):c.692G>A (p.Arg231His) rs869025436 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) rs186114650 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala) rs397517190 0.00001
NM_020433.5(JPH2):c.559G>A (p.Gly187Ser) rs869025440 0.00001
NM_020433.5(JPH2):c.723C>G (p.Ser241Arg) rs587782952 0.00001
NM_020774.4(MIB1):c.758A>G (p.Asn253Ser) rs730880134 0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys) rs562700595 0.00001
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu) rs769969149 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_032578.4(MYPN):c.35T>C (p.Ile12Thr) rs869025490 0.00001
NM_032578.4(MYPN):c.3697A>T (p.Ile1233Phe) rs587782969 0.00001
NM_032588.4(TRIM63):c.650A>G (p.Tyr217Cys) rs730880235 0.00001
NM_033118.4(MYLK2):c.1582C>T (p.Arg528Trp) rs752617053 0.00001
NM_130797.4(DPP6):c.2077C>T (p.Arg693Trp) rs869025385 0.00001
NM_145046.5(CALR3):c.67T>A (p.Phe23Ile) rs368506422 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_182914.3(SYNE2):c.20630C>T (p.Ser6877Phe) rs548596262 0.00001
NM_000117.3(EMD):c.23C>G (p.Ser8Trp) rs869025400
NM_000238.4(KCNH2):c.473-7C>G rs146570628
NM_000256.3(MYBPC3):c.1091-1G>A rs730880143
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) rs869025465
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.145_150delinsTGATGAG (p.Ile49_Ser50delinsTer) rs869025462
NM_000256.3(MYBPC3):c.1505_1509del (p.Arg502fs) rs587782957
NM_000256.3(MYBPC3):c.1575T>A (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1625-1G>A rs869025466
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) rs730880553
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1886T>C (p.Leu629Pro) rs730880137
NM_000256.3(MYBPC3):c.1927+2T>C rs869025467
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.1960C>G (p.Arg654Gly) rs397515939
NM_000256.3(MYBPC3):c.2097del (p.Asp700fs) rs869025460
NM_000256.3(MYBPC3):c.2288A>G (p.Asn763Ser) rs730880527
NM_000256.3(MYBPC3):c.229G>T (p.Gly77Ter) rs869025459
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs) rs397515975
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs) rs869025468
NM_000256.3(MYBPC3):c.3118T>G (p.Ser1040Ala) rs730880139
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) rs869025461
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.357del (p.Ala120fs) rs869025463
NM_000256.3(MYBPC3):c.3627+1G>A rs397516031
NM_000256.3(MYBPC3):c.3814+2T>C rs869025470
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.441_442del (p.Gly148fs) rs869025464
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) rs397516089
NM_000257.4(MYH7):c.1178C>T (p.Ala393Val) rs869025477
NM_000257.4(MYH7):c.1331A>C (p.Asn444Thr) rs730880159
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1627G>A (p.Ala543Thr) rs730880160
NM_000257.4(MYH7):c.1820G>A (p.Gly607Asp) rs869025479
NM_000257.4(MYH7):c.1888+1G>A rs113186231
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) rs397516142
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2613G>T (p.Lys871Asn) rs869025480
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.2785G>A (p.Glu929Lys) rs730880161
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr) rs730880154
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
NM_000257.4(MYH7):c.3929A>C (p.Gln1310Pro) rs869025481
NM_000257.4(MYH7):c.4510A>T (p.Asn1504Tyr) rs869025482
NM_000257.4(MYH7):c.475G>C (p.Asp159His) rs730880155
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) rs545875689
NM_000257.4(MYH7):c.536A>C (p.Glu179Ala) rs869025476
NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal) rs869025483
NM_000257.4(MYH7):c.789A>G (p.Ile263Met) rs730880855
NM_000257.4(MYH7):c.793A>T (p.Thr265Ser) rs730880157
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.383G>A (p.Gly128Asp) rs869025485
NM_000258.3(MYL3):c.447G>A (p.Met149Ile) rs730880162
NM_000258.3(MYL3):c.451G>A (p.Ala151Thr) rs869025486
NM_000258.3(MYL3):c.482-6T>C rs730880163
NM_000258.3(MYL3):c.560-3C>T rs869025488
NM_000258.3(MYL3):c.571C>G (p.His191Asp) rs869025487
NM_000335.5(SCN5A):c.1140+1G>A rs730880210
NM_000335.5(SCN5A):c.1671C>G (p.His557Gln) rs762858787
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.5(SCN5A):c.1840C>T (p.Pro614Ser) rs730880204
NM_000335.5(SCN5A):c.413T>C (p.Met138Thr) rs730880203
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.5(SCN5A):c.5798G>A (p.Ser1933Asn) rs730880209
NM_000335.5(SCN5A):c.725C>T (p.Ala242Val) rs869025518
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.5(TNNI3):c.522G>C (p.Lys174Asn) rs730880231
NM_000363.5(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.5(TNNI3):c.566G>A (p.Gly189Glu) rs587782980
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000432.4(MYL2):c.262G>A (p.Glu88Lys) rs869025484
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.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.746T>G (p.Leu249Trp) rs786204412
NM_001018005.2(TPM1):c.77A>G (p.Glu26Gly) rs730880234
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.10471C>G (p.Leu3491Val) rs747700917
NM_001035.3(RYR2):c.10766A>C (p.Lys3589Thr) rs730880195
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.12379A>C (p.Asn4127His) rs730880197
NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu) rs869025514
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del) rs869025516
NM_001035.3(RYR2):c.13285A>T (p.Lys4429Ter) rs869025515
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile) rs730880201
NM_001035.3(RYR2):c.1604A>G (p.Glu535Gly) rs869025509
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.3(RYR2):c.3049A>G (p.Thr1017Ala) rs730880189
NM_001035.3(RYR2):c.3080G>A (p.Arg1027Lys) rs730880190
NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys) rs759424061
NM_001035.3(RYR2):c.5204G>A (p.Ser1735Asn) rs869025510
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln) rs869025511
NM_001035.3(RYR2):c.6203G>T (p.Arg2068Leu) rs869025512
NM_001035.3(RYR2):c.6793-4G>T rs568936247
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001103.4(ACTN2):c.2387G>T (p.Arg796Leu) rs772409484
NM_001105206.3(LAMA4):c.2493G>A (p.Lys831=) rs869025450
NM_001134363.3(RBM20):c.1606A>G (p.Ile536Val) rs869025505
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.2219C>T (p.Ser740Phe) rs730880183
NM_001134363.3(RBM20):c.2338G>C (p.Gly780Arg) rs750988872
NM_001134363.3(RBM20):c.3496T>C (p.Cys1166Arg) rs869025506
NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu) rs587782973
NM_001134363.3(RBM20):c.611C>T (p.Pro204Leu) rs869025503
NM_001148.6(ANK2):c.11611G>A (p.Gly3871Arg) rs786205729
NM_001148.6(ANK2):c.9871C>T (p.Pro3291Ser) rs869025361
NM_001159699.2(FHL1):c.813C>G (p.Cys271Trp) rs869025432
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter) rs770029258
NM_001267550.2(TTN):c.103599_103602del (p.Arg34534fs) rs730880246
NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter) rs751039219
NM_001267550.2(TTN):c.12027T>G (p.Tyr4009Ter) rs587782984
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.15500C>A (p.Pro5167His) rs730880237
NM_001267550.2(TTN):c.34132del (p.Leu11378fs) rs869025551
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.45896-2A>G rs869025548
NM_001267550.2(TTN):c.48863del (p.Pro16288fs) rs794729320
NM_001267550.2(TTN):c.49813del (p.Val16605fs) rs730880245
NM_001267550.2(TTN):c.53519A>G (p.Lys17840Arg) rs730880240
NM_001267550.2(TTN):c.54990dup (p.Thr18331fs) rs869025552
NM_001267550.2(TTN):c.57847+5_57847+8del rs587782988
NM_001267550.2(TTN):c.65576-2A>G rs869025549
NM_001267550.2(TTN):c.67637-2A>G rs869025550
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter) rs200797552
NM_001267550.2(TTN):c.69639dup (p.Val23214fs) rs869025557
NM_001267550.2(TTN):c.69783G>A (p.Trp23261Ter) rs730880241
NM_001267550.2(TTN):c.71500C>T (p.Gln23834Ter) rs730880242
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.7330+5G>C rs869025547
NM_001267550.2(TTN):c.752A>G (p.His251Arg) rs587782983
NM_001267550.2(TTN):c.75314dup (p.Val25106fs) rs869025558
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs) rs869025559
NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter) rs730880243
NM_001267550.2(TTN):c.87849del (p.Leu29283fs) rs869025554
NM_001267550.2(TTN):c.94249del (p.Val31417fs) rs869025555
NM_001267550.2(TTN):c.95966del (p.Asn31989fs) rs72648265
NM_001276345.2(TNNT2):c.443A>G (p.Gln148Arg) rs730880232
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.572T>G (p.Met191Arg) rs869025538
NM_001276345.2(TNNT2):c.610A>G (p.Thr204Ala) rs587782981
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) rs45586240
NM_001276345.2(TNNT2):c.878T>A (p.Val293Asp) rs730880233
NM_001289808.2(CRYAB):c.22C>T (p.Pro8Ser) rs782654756
NM_001318895.3(FHL2):c.340A>G (p.Lys114Glu) rs765271517
NM_001318895.3(FHL2):c.715T>G (p.Phe239Val) rs869025433
NM_001318895.3(FHL2):c.823T>G (p.Cys275Gly) rs730880110
NM_001386795.1(DTNA):c.325A>G (p.Ser109Gly) rs730880094
NM_001927.4(DES):c.1234G>A (p.Glu412Lys) rs869025380
NM_001927.4(DES):c.1297C>A (p.Pro433Thr) rs869025381
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001943.5(DSG2):c.1945G>A (p.Gly649Ser) rs730880078
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_002294.3(LAMP2):c.1135A>G (p.Ile379Val) rs869025452
NM_002471.4(MYH6):c.1002+3G>A rs869025475
NM_002471.4(MYH6):c.2538G>C (p.Glu846Asp) rs730880150
NM_002471.4(MYH6):c.694G>A (p.Gly232Ser) rs587782960
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.1172G>T (p.Arg391Met) rs587782972
NM_002880.4(RAF1):c.1220T>A (p.Leu407His) rs869025502
NM_002880.4(RAF1):c.452T>C (p.Phe151Ser) rs587782971
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.779C>T (p.Thr260Ile) rs869025501
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.788T>G (p.Val263Gly) rs397516830
NM_003280.3(TNNC1):c.469A>T (p.Met157Leu) rs730880230
NM_003476.5(CSRP3):c.353A>G (p.Glu118Gly) rs869025376
NM_003476.5(CSRP3):c.388G>C (p.Ala130Pro) rs869025377
NM_003476.5(CSRP3):c.49del (p.Val17fs) rs869025378
NM_003803.4(MYOM1):c.1733G>A (p.Arg578His) rs200374196
NM_004006.3(DMD):c.3163-3C>A rs778622512
NM_004006.3(DMD):c.4784C>A (p.Thr1595Lys) rs869025383
NM_004006.3(DMD):c.531-11_531-6del rs758404687
NM_004006.3(DMD):c.6118-3C>A rs730880074
NM_004100.5(EYA4):c.662G>A (p.Ser221Asn) rs869025402
NM_004281.4(BAG3):c.1297C>T (p.Gln433Ter) rs730880055
NM_004281.4(BAG3):c.284C>T (p.Pro95Leu) rs869025364
NM_004281.4(BAG3):c.909+1G>A rs869025365
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004409.5(DMPK):c.582-6G>C rs766818029
NM_004415.2(DSP):c.2131_2132del rs587782927
NM_004415.4(DSP):c.1140+2T>G rs869025398
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1315G>A (p.Val439Ile) rs587782941
NM_004415.4(DSP):c.1348C>G (p.Pro450Ala) rs869025390
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu) rs730880079
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) rs869025391
NM_004415.4(DSP):c.3199G>T (p.Ala1067Ser) rs730880083
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_004415.4(DSP):c.4803G>A (p.Met1601Ile) rs869025392
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5379+8C>G rs771984464
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.55C>T (p.Arg19Cys) rs777340009
NM_004415.4(DSP):c.5725del (p.Ile1909fs) rs869025399
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.6185A>G (p.His2062Arg) rs730880086
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_004415.4(DSP):c.6305G>C (p.Gly2102Ala) rs572843477
NM_004415.4(DSP):c.6347T>C (p.Ile2116Thr) rs730880087
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.7213C>A (p.Leu2405Ile) rs774401264
NM_004517.4(ILK):c.86dup (p.Asp31fs) rs587782950
NM_004985.5(KRAS):c.528GAA[3] (p.Lys180dup) rs397517043
NM_005159.5(ACTC1):c.1124A>G (p.Lys375Arg) rs869025355
NM_005159.5(ACTC1):c.272C>A (p.Thr91Asn) rs730880037
NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe) rs730880038
NM_005159.5(ACTC1):c.751A>G (p.Thr251Ala) rs730880039
NM_005159.5(ACTC1):c.854T>C (p.Met285Thr) rs869025354
NM_005188.4(CBL):c.2519G>C (p.Cys840Ser) rs376536789
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005477.3(HCN4):c.2261A>G (p.His754Arg) rs762856084
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_006393.3(NEBL):c.658G>A (p.Val220Met) rs571563897
NM_006440.5(TXNRD2):c.14C>T (p.Ala5Val) rs775392322
NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu) rs373979810
NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His) rs869025560
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_007373.4(SHOC2):c.1582C>T (p.Pro528Ser) rs869025524
NM_013266.4(CTNNA3):c.1031C>T (p.Ser344Leu) rs730880072
NM_013266.4(CTNNA3):c.2053A>G (p.Ser685Gly) rs199697536
NM_013266.4(CTNNA3):c.242C>T (p.Thr81Ile) rs730880070
NM_013266.4(CTNNA3):c.2430del (p.Ala811fs) rs869025379
NM_013266.4(CTNNA3):c.2571del (p.Pro857_Leu858insTer) rs587782935
NM_014391.3(ANKRD1):c.229C>G (p.Gln77Glu) rs869025362
NM_014391.3(ANKRD1):c.677C>T (p.Ala226Val) rs730880050
NM_014476.6(PDLIM3):c.773G>A (p.Gly258Glu) rs730880178
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly) rs762111172
NM_016203.4(PRKAG2):c.410A>T (p.Asn137Ile) rs869025498
NM_016203.4(PRKAG2):c.868A>G (p.Lys290Glu) rs869025499
NM_020297.4(ABCC9):c.1884del (p.Phe628fs) rs869025348
NM_020297.4(ABCC9):c.3284G>A (p.Arg1095His) rs869025347
NM_020297.4(ABCC9):c.4157G>A (p.Arg1386His) rs730880035
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.4637G>T (p.Arg1546Leu) rs773377070
NM_020433.5(JPH2):c.1227C>G (p.Asn409Lys) rs869025441
NM_020433.5(JPH2):c.482C>A (p.Thr161Lys) rs587782951
NM_020433.5(JPH2):c.502A>C (p.Ser168Arg) rs869025439
NM_020774.4(MIB1):c.1322A>G (p.Asn441Ser) rs730880135
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024422.6(DSC2):c.1163A>T (p.Asn388Ile) rs587782937
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.47G>C (p.Arg16Pro) rs869025386
NM_032578.4(MYPN):c.101G>A (p.Arg34Gln) rs730880168
NM_032578.4(MYPN):c.2981T>G (p.Met994Arg) rs786205348
NM_032578.4(MYPN):c.3808C>G (p.Gln1270Glu) rs730880169
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_133379.5(TTN):c.11794G>T (p.Glu3932Ter) rs869025543
NM_133379.5(TTN):c.16515_16516insA (p.Glu5506fs) rs730880247
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_144573.4(NEXN):c.1630del (p.Gln544fs) rs730880172
NM_170707.4(LMNA):c.1086del (p.Leu363fs) rs58389804
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs) rs267607577
NM_170707.4(LMNA):c.263C>G (p.Ala88Gly) rs869025455
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del) rs794728597
NM_170707.4(LMNA):c.378C>G (p.Asp126Glu) rs869025456
NM_170707.4(LMNA):c.661C>T (p.Arg221Cys) rs869025457
NM_170707.4(LMNA):c.710T>C (p.Phe237Ser) rs730880132
NM_170707.4(LMNA):c.859del (p.Ala287fs) rs59564495
NM_174934.4(SCN4B):c.592_593+1del rs587782976
NM_182914.3(SYNE2):c.14407del (p.Ser4803fs) rs869025529
NM_182961.4(SYNE1):c.14895_14896del (p.His4965fs) rs730880219

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