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
|
|