NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)
|
rs137852987
|
0.00102
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)
|
rs118204057
|
0.00024
|
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)
|
rs137852988
|
0.00022
|
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)
|
rs137852991
|
0.00013
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)
|
rs199473072
|
0.00009
|
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)
|
rs587782962
|
0.00008
|
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)
|
rs120074190
|
0.00006
|
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)
|
rs199472918
|
0.00006
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
0.00006
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter)
|
rs201079485
|
0.00006
|
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)
|
rs397515458
|
0.00006
|
NM_000169.3(GLA):c.640-801G>A
|
rs199473684
|
0.00005
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
|
rs372827156
|
0.00005
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)
|
rs151344631
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.3330+2T>G
|
rs387906397
|
0.00004
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
|
rs397516347
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_001005242.3(PKP2):c.2357+1G>A
|
rs111517471
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)
|
rs772624348
|
0.00004
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
NM_004444.5(EPHB4):c.1054C>T (p.Arg352Ter)
|
rs898898802
|
0.00004
|
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)
|
rs749465164
|
0.00004
|
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)
|
rs1051900223
|
0.00004
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)
|
rs121964972
|
0.00003
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)
|
rs199472709
|
0.00003
|
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter)
|
rs773724817
|
0.00003
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)
|
rs397515907
|
0.00003
|
NM_000256.3(MYBPC3):c.1624+4A>T
|
rs397515916
|
0.00003
|
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)
|
rs397516005
|
0.00003
|
NM_000256.3(MYBPC3):c.927-2A>G
|
rs397516082
|
0.00003
|
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg)
|
rs121913632
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)
|
rs761954844
|
0.00003
|
NM_001005242.3(PKP2):c.1557-1G>C
|
rs78897684
|
0.00003
|
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter)
|
rs751288871
|
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_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)
|
rs758195453
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_006073.4(TRDN):c.22+29A>G
|
rs774068079
|
0.00003
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)
|
rs778220779
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)
|
rs120074178
|
0.00002
|
NM_000237.3(LPL):c.805G>A (p.Glu269Lys)
|
rs761886494
|
0.00002
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)
|
rs397515963
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)
|
rs387907267
|
0.00002
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000335.5(SCN5A):c.845G>A (p.Arg282His)
|
rs199473083
|
0.00002
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)
|
rs767987619
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter)
|
rs749890642
|
0.00002
|
NM_001365276.2(TNXB):c.6293dup (p.Glu2100fs)
|
rs764867655
|
0.00002
|
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs)
|
rs1553421496
|
0.00002
|
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)
|
rs111033560
|
0.00002
|
NM_024422.6(DSC2):c.943-1G>A
|
rs796756333
|
0.00002
|
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)
|
rs771028960
|
0.00002
|
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)
|
rs1060503248
|
0.00001
|
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)
|
rs1131691686
|
0.00001
|
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)
|
rs121909284
|
0.00001
|
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln)
|
rs1085307426
|
0.00001
|
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)
|
rs121909288
|
0.00001
|
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)
|
rs1085307405
|
0.00001
|
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)
|
rs28935197
|
0.00001
|
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)
|
rs199472763
|
0.00001
|
NM_000218.3(KCNQ1):c.1032+1G>A
|
rs397508070
|
0.00001
|
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)
|
rs1800171
|
0.00001
|
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)
|
rs397508097
|
0.00001
|
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)
|
rs199472795
|
0.00001
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys)
|
rs199472678
|
0.00001
|
NM_000218.3(KCNQ1):c.477+1G>A
|
rs762814879
|
0.00001
|
NM_000218.3(KCNQ1):c.477+5G>A
|
rs397508111
|
0.00001
|
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)
|
rs179489
|
0.00001
|
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)
|
rs199472696
|
0.00001
|
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)
|
rs199473394
|
0.00001
|
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)
|
rs199472702
|
0.00001
|
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)
|
rs199473457
|
0.00001
|
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys)
|
rs199472713
|
0.00001
|
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)
|
rs120074194
|
0.00001
|
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)
|
rs199472726
|
0.00001
|
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)
|
rs199472730
|
0.00001
|
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)
|
rs120074186
|
0.00001
|
NM_000237.3(LPL):c.590G>A (p.Arg197His)
|
rs372668179
|
0.00001
|
NM_000237.3(LPL):c.701C>T (p.Pro234Leu)
|
rs118204060
|
0.00001
|
NM_000237.3(LPL):c.808C>T (p.Arg270Cys)
|
rs118204077
|
0.00001
|
NM_000237.3(LPL):c.809G>A (p.Arg270His)
|
rs118204062
|
0.00001
|
NM_000237.3(LPL):c.829G>A (p.Asp277Asn)
|
rs118204068
|
0.00001
|
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)
|
rs199472979
|
0.00001
|
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)
|
rs199472990
|
0.00001
|
NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter)
|
rs397515890
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs)
|
rs774521272
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000256.3(MYBPC3):c.3190+1G>A
|
rs111683277
|
0.00001
|
NM_000256.3(MYBPC3):c.3190+2T>G
|
rs113358486
|
0.00001
|
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs)
|
rs397516008
|
0.00001
|
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)
|
rs121909377
|
0.00001
|
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter)
|
rs193922383
|
0.00001
|
NM_000256.3(MYBPC3):c.3490+1G>T
|
rs397516020
|
0.00001
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)
|
rs727503166
|
0.00001
|
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)
|
rs397516042
|
0.00001
|
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs)
|
rs397516049
|
0.00001
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)
|
rs121913625
|
0.00001
|
NM_000257.4(MYH7):c.1358G>A (p.Arg453His)
|
rs397516101
|
0.00001
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)
|
rs727504239
|
0.00001
|
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)
|
rs121913637
|
0.00001
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
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.4066G>A (p.Glu1356Lys)
|
rs727503246
|
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.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu)
|
rs121913633
|
0.00001
|
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His)
|
rs28937318
|
0.00001
|
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)
|
rs137854618
|
0.00001
|
NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter)
|
rs199473284
|
0.00001
|
NM_000335.5(SCN5A):c.4891C>T (p.Arg1631Cys)
|
rs878855292
|
0.00001
|
NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter)
|
rs761505217
|
0.00001
|
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)
|
rs28937316
|
0.00001
|
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)
|
rs199473305
|
0.00001
|
NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val)
|
rs199473311
|
0.00001
|
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
NM_000335.5(SCN5A):c.656G>A (p.Arg219His)
|
rs878855296
|
0.00001
|
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)
|
rs397516357
|
0.00001
|
NM_000371.4(TTR):c.118G>A (p.Val40Ile)
|
rs121918093
|
0.00001
|
NM_000371.4(TTR):c.130C>T (p.Pro44Ser)
|
rs11541790
|
0.00001
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
|
rs267607161
|
0.00001
|
NM_000384.3(APOB):c.1315C>T (p.Arg439Ter)
|
rs142066904
|
0.00001
|
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)
|
rs104894369
|
0.00001
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
NM_000527.5(LDLR):c.1061-1G>C
|
rs879254774
|
0.00001
|
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
|
rs137943601
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1359-1G>A
|
rs139617694
|
0.00001
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)
|
rs138947766
|
0.00001
|
NM_000527.5(LDLR):c.1846-1G>A
|
rs879255051
|
0.00001
|
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)
|
rs775092314
|
0.00001
|
NM_000527.5(LDLR):c.2061dup (p.Asn688fs)
|
rs137853965
|
0.00001
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
0.00001
|
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter)
|
rs869320652
|
0.00001
|
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)
|
rs1057516127
|
0.00001
|
NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter)
|
rs200793488
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000527.5(LDLR):c.314-2A>C
|
rs879254470
|
0.00001
|
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)
|
rs140807148
|
0.00001
|
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter)
|
rs199774121
|
0.00001
|
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
|
rs121908033
|
0.00001
|
NM_000527.5(LDLR):c.581del (p.Ser194fs)
|
rs2077276693
|
0.00001
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
NM_000527.5(LDLR):c.820del (p.Thr274fs)
|
rs751122998
|
0.00001
|
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His)
|
rs1057517711
|
0.00001
|
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)
|
rs397516986
|
0.00001
|
NM_001005242.3(PKP2):c.1171-2A>G
|
rs794729133
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2A>T
|
rs1453983744
|
0.00001
|
NM_001005242.3(PKP2):c.533dup (p.His179fs)
|
rs769220833
|
0.00001
|
NM_001005242.3(PKP2):c.837_838del (p.Val280fs)
|
rs772220644
|
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_001035.3(RYR2):c.1258C>T (p.Arg420Trp)
|
rs190140598
|
0.00001
|
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)
|
rs119463990
|
0.00001
|
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)
|
rs1554809450
|
0.00001
|
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)
|
rs1434169817
|
0.00001
|
NM_001114753.3(ENG):c.524-2A>G
|
rs1060501414
|
0.00001
|
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys)
|
rs267607002
|
0.00001
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter)
|
rs768327292
|
0.00001
|
NM_001232.4(CASQ2):c.939+1G>T
|
rs905985075
|
0.00001
|
NM_001267550.2(TTN):c.44816-1G>A
|
rs749705939
|
0.00001
|
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)
|
rs727505350
|
0.00001
|
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)
|
rs751746401
|
0.00001
|
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)
|
rs374140736
|
0.00001
|
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter)
|
rs753333359
|
0.00001
|
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter)
|
rs794729284
|
0.00001
|
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)
|
rs727505284
|
0.00001
|
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)
|
rs770038577
|
0.00001
|
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)
|
rs776065839
|
0.00001
|
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter)
|
rs869312121
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)
|
rs397516456
|
0.00001
|
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)
|
rs121964856
|
0.00001
|
NM_001365276.2(TNXB):c.7826-1G>C
|
rs200357005
|
0.00001
|
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter)
|
rs940576720
|
0.00001
|
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs)
|
rs760264695
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)
|
rs539612316
|
0.00001
|
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)
|
rs750326619
|
0.00001
|
NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter)
|
rs974309886
|
0.00001
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter)
|
rs759024519
|
0.00001
|
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)
|
rs749339938
|
0.00001
|
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)
|
rs771994237
|
0.00001
|
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)
|
rs1198051503
|
0.00001
|
NM_001458.5(FLNC):c.3791-1G>C
|
rs781135153
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter)
|
rs753052874
|
0.00001
|
NM_001943.5(DSG2):c.523+2T>C
|
rs397516709
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter)
|
rs794729175
|
0.00001
|
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)
|
rs141019458
|
0.00001
|
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)
|
rs128626249
|
0.00001
|
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)
|
rs387906875
|
0.00001
|
NM_004415.4(DSP):c.268C>T (p.Gln90Ter)
|
rs886039343
|
0.00001
|
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)
|
rs767643821
|
0.00001
|
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter)
|
rs778178956
|
0.00001
|
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs)
|
rs1554108287
|
0.00001
|
NM_004415.4(DSP):c.4518del (p.Arg1506fs)
|
rs1289037294
|
0.00001
|
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)
|
rs397516940
|
0.00001
|
NM_004415.4(DSP):c.939+1G>A
|
rs727504443
|
0.00001
|
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)
|
rs193922680
|
0.00001
|
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter)
|
rs1198103383
|
0.00001
|
NM_014908.4(DOLK):c.374del (p.Ser125fs)
|
rs1156844272
|
0.00001
|
NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter)
|
rs121908325
|
0.00001
|
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)
|
rs121908987
|
0.00001
|
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter)
|
rs763944898
|
0.00001
|
NM_020778.5(ALPK3):c.3340C>T (p.Arg1114Ter)
|
rs751041696
|
0.00001
|
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter)
|
rs1431206462
|
0.00001
|
NM_020778.5(ALPK3):c.835G>T (p.Glu279Ter)
|
rs370072439
|
0.00001
|
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)
|
rs772950604
|
0.00001
|
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)
|
rs756457861
|
0.00001
|
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys)
|
rs121908258
|
0.00001
|
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter)
|
rs1057517941
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)
|
rs397517889
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)
|
rs59026483
|
0.00001
|
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)
|
rs794728591
|
0.00001
|
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)
|
rs60682848
|
0.00001
|
NM_170707.4(LMNA):c.768G>A (p.Val256=)
|
rs794728593
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NM_000020.3(ACVRL1):c.100dup (p.Cys34fs)
|
rs1555152440
|
|
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs)
|
rs2139074041
|
|
NM_000020.3(ACVRL1):c.101G>A (p.Cys34Tyr)
|
|
|
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter)
|
rs1064796530
|
|
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter)
|
rs1226848374
|
|
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)
|
rs28936688
|
|
NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe)
|
rs28936688
|
|
NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs)
|
rs1565594524
|
|
NM_000020.3(ACVRL1):c.1048+1G>A
|
rs2139074368
|
|
NM_000020.3(ACVRL1):c.1048+1G>T
|
|
|
NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg)
|
rs1565594547
|
|
NM_000020.3(ACVRL1):c.1083C>A (p.Tyr361Ter)
|
|
|
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)
|
rs28936401
|
|
NM_000020.3(ACVRL1):c.1122del (p.Tyr375fs)
|
rs863223418
|
|
NM_000020.3(ACVRL1):c.1125C>A (p.Tyr375Ter)
|
|
|
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val)
|
rs1555153277
|
|
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg)
|
rs28936399
|
|
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser)
|
rs959973779
|
|
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs)
|
rs1940834530
|
|
NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs)
|
rs2139064475
|
|
NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn)
|
rs1940836783
|
|
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter)
|
rs121909289
|
|
NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys)
|
rs2139077046
|
|
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)
|
rs1057521203
|
|
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp)
|
rs1565595129
|
|
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)
|
rs121909287
|
|
NM_000020.3(ACVRL1):c.1246+1G>A
|
rs1565595176
|
|
NM_000020.3(ACVRL1):c.1246+2T>C
|
rs1555153382
|
|
NM_000020.3(ACVRL1):c.1250_1269del (p.Ile417fs)
|
rs1555153796
|
|
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg)
|
rs1940906429
|
|
NM_000020.3(ACVRL1):c.1271C>T (p.Pro424Leu)
|
|
|
NM_000020.3(ACVRL1):c.128_132del (p.Gly43fs)
|
|
|
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs)
|
rs1940731395
|
|
NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs)
|
rs2139064592
|
|
NM_000020.3(ACVRL1):c.130_146delinsTGCACAGTAGTG (p.Pro44fs)
|
|
|
NM_000020.3(ACVRL1):c.1329T>A (p.Cys443Ter)
|
|
|
NM_000020.3(ACVRL1):c.1331_1332dup (p.Asp445fs)
|
rs1565596508
|
|
NM_000020.3(ACVRL1):c.133_148del (p.Thr45fs)
|
|
|
NM_000020.3(ACVRL1):c.1347del (p.Thr450fs)
|
rs1940908396
|
|
NM_000020.3(ACVRL1):c.1365_1366delinsC (p.Ala456fs)
|
|
|
NM_000020.3(ACVRL1):c.1377+1G>A
|
rs863223406
|
|
NM_000020.3(ACVRL1):c.1378-1G>A
|
rs1060503237
|
|
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)
|
rs1085307422
|
|
NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs)
|
rs1555152455
|
|
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs)
|
rs1940731944
|
|
NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter)
|
rs1301762186
|
|
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)
|
rs1555154144
|
|
NM_000020.3(ACVRL1):c.1416G>A (p.Trp472Ter)
|
|
|
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)
|
rs1057517944
|
|
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.145del (p.Ala49fs)
|
rs863223415
|
|
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)
|
rs863223415
|
|
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)
|
rs1085307429
|
|
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys)
|
rs121909285
|
|
NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr)
|
rs863223409
|
|
NM_000020.3(ACVRL1):c.177_180dup (p.Arg61fs)
|
|
|
NM_000020.3(ACVRL1):c.183del (p.Arg61fs)
|
rs1060503246
|
|
NM_000020.3(ACVRL1):c.18dup (p.Arg7fs)
|
|
|
NM_000020.3(ACVRL1):c.193G>T (p.Glu65Ter)
|
rs1427299751
|
|
NM_000020.3(ACVRL1):c.193del (p.Glu65fs)
|
rs2139065161
|
|
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)
|
rs863223414
|
|
NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg)
|
rs2139065261
|
|
NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter)
|
rs56080682
|
|
NM_000020.3(ACVRL1):c.210_213delinsAAA (p.Leu72fs)
|
|
|
NM_000020.3(ACVRL1):c.239_240insT (p.Thr82fs)
|
|
|
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)
|
rs863223410
|
|
NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe)
|
rs863223410
|
|
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)
|
rs556168617
|
|
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
|
|
|
NM_000020.3(ACVRL1):c.310G>T (p.Glu104Ter)
|
|
|
NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter)
|
rs1592222308
|
|
NM_000020.3(ACVRL1):c.353_360dup (p.Leu121fs)
|
|
|
NM_000020.3(ACVRL1):c.361del (p.Ala120_Leu121insTer)
|
|
|
NM_000020.3(ACVRL1):c.375del (p.Val126fs)
|
rs1940751760
|
|
NM_000020.3(ACVRL1):c.400del (p.Ala134fs)
|
|
|
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)
|
rs863223416
|
|
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs)
|
rs2139067412
|
|
NM_000020.3(ACVRL1):c.423G>A (p.Trp141Ter)
|
|
|
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)
|
rs758683062
|
|
NM_000020.3(ACVRL1):c.433del (p.Arg145fs)
|
|
|
NM_000020.3(ACVRL1):c.474del (p.Glu159fs)
|
|
|
NM_000020.3(ACVRL1):c.501del (p.Glu168fs)
|
|
|
NM_000020.3(ACVRL1):c.525+1G>A
|
rs1555152710
|
|
NM_000020.3(ACVRL1):c.525+2T>C
|
rs2139067969
|
|
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs)
|
rs1555152774
|
|
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter)
|
rs2139068677
|
|
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)
|
rs1318446539
|
|
NM_000020.3(ACVRL1):c.625+1G>T
|
rs1940767034
|
|
NM_000020.3(ACVRL1):c.626-3C>G
|
rs1555152899
|
|
NM_000020.3(ACVRL1):c.639T>A (p.Tyr213Ter)
|
|
|
NM_000020.3(ACVRL1):c.643G>T (p.Glu215Ter)
|
|
|
NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter)
|
rs1592223399
|
|
NM_000020.3(ACVRL1):c.65del (p.Asp22fs)
|
|
|
NM_000020.3(ACVRL1):c.663G>A (p.Trp221Ter)
|
rs2139070482
|
|
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del)
|
rs387906391
|
|
NM_000020.3(ACVRL1):c.703del (p.Asp235fs)
|
|
|
NM_000020.3(ACVRL1):c.716G>A (p.Trp239Ter)
|
|
|
NM_000020.3(ACVRL1):c.717G>A (p.Trp239Ter)
|
|
|
NM_000020.3(ACVRL1):c.71_93del (p.Val24fs)
|
|
|
NM_000020.3(ACVRL1):c.726del (p.Thr243fs)
|
|
|
NM_000020.3(ACVRL1):c.73A>T (p.Lys25Ter)
|
|
|
NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25_Pro26delinsSerCysTer)
|
|
|
NM_000020.3(ACVRL1):c.766del (p.Ile256fs)
|
|
|
NM_000020.3(ACVRL1):c.772+1G>C
|
rs1940785759
|
|
NM_000020.3(ACVRL1):c.807_810del (p.Ser270fs)
|
rs2139072772
|
|
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)
|
rs1085307409
|
|
NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter)
|
rs757645341
|
|
NM_000020.3(ACVRL1):c.858_859insA (p.Asp287fs)
|
|
|
NM_000020.3(ACVRL1):c.866T>C (p.Leu289Pro)
|
|
|
NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter)
|
rs1057256890
|
|
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs)
|
rs1592224087
|
|
NM_000020.3(ACVRL1):c.874C>T (p.Gln292Ter)
|
rs1940805354
|
|
NM_000020.3(ACVRL1):c.889del (p.His297fs)
|
rs1060503245
|
|
NM_000020.3(ACVRL1):c.900del (p.Arg301fs)
|
|
|
NM_000020.3(ACVRL1):c.913T>C (p.Ser305Pro)
|
rs1565594238
|
|
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter)
|
rs1555153131
|
|
NM_000020.3(ACVRL1):c.926G>A (p.Gly309Asp)
|
|
|
NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr)
|
rs1565594311
|
|
NM_000020.3(ACVRL1):c.971_972insGCGACAAG (p.Ala325fs)
|
|
|
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)
|
rs1592224291
|
|
NM_000020.3(ACVRL1):c.986G>A (p.Arg329His)
|
rs863223412
|
|
NM_000020.3(ACVRL1):c.988_994dup (p.Lys332fs)
|
|
|
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)
|
rs863223413
|
|
NM_000041.4(APOE):c.497TCC[1] (p.Leu167del)
|
rs515726148
|
|
NM_000088.4(COL1A1):c.1128del (p.Gly377fs)
|
rs72645370
|
|
NM_000088.4(COL1A1):c.288del (p.Asp97fs)
|
rs2144593759
|
|
NM_000089.4(COL1A2):c.3355G>A (p.Ala1119Thr)
|
|
|
NM_000090.4(COL3A1):c.2642del (p.Pro881fs)
|
rs886038920
|
|
NM_000090.4(COL3A1):c.3500_3501delinsAA (p.Gly1167Glu)
|
rs886038925
|
|
NM_000116.5(TAFAZZIN):c.145del (p.Val49fs)
|
rs1557191074
|
|
NM_000116.5(TAFAZZIN):c.489dup (p.Phe164fs)
|
|
|
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)
|
rs132630262
|
|
NM_000117.3(EMD):c.153dup (p.Ser52fs)
|
rs876661345
|
|
NM_000117.3(EMD):c.217dup (p.Met73fs)
|
|
|
NM_000118.3(ENG):c.1687delG
|
rs1564452075
|
|
NM_000138.4(FBN1):c.2127_2130delACTCins11 (p.?)
|
|
|
NM_000138.4(FBN1):c.5067_5073delTATGAGA
|
rs886038823
|
|
NM_000138.5(FBN1):c.1211dup (p.Pro405fs)
|
rs112289537
|
|
NM_000138.5(FBN1):c.1571del (p.Thr524fs)
|
rs886038817
|
|
NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter)
|
rs886038963
|
|
NM_000138.5(FBN1):c.2227del (p.Arg743fs)
|
rs886038769
|
|
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter)
|
rs886038941
|
|
NM_000138.5(FBN1):c.2725del (p.Glu909fs)
|
rs886038804
|
|
NM_000138.5(FBN1):c.2906del (p.Leu969fs)
|
rs886039154
|
|
NM_000138.5(FBN1):c.3269del (p.Pro1090fs)
|
rs35656954
|
|
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr)
|
rs137854469
|
|
NM_000138.5(FBN1):c.412A>T (p.Lys138Ter)
|
rs886038937
|
|
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs)
|
rs886038846
|
|
NM_000138.5(FBN1):c.4721del (p.Cys1574fs)
|
rs1555397148
|
|
NM_000138.5(FBN1):c.526C>T (p.Gln176Ter)
|
rs886038766
|
|
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)
|
rs763091520
|
|
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter)
|
rs886038797
|
|
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)
|
rs187553035
|
|
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)
|
rs886038795
|
|
NM_000169.3(GLA):c.1210dup (p.Arg404fs)
|
|
|
NM_000169.3(GLA):c.18del (p.Glu7fs)
|
rs2147487830
|
|
NM_000169.3(GLA):c.202C>T (p.Leu68Phe)
|
rs1928411447
|
|
NM_000169.3(GLA):c.295C>T (p.Gln99Ter)
|
rs868937910
|
|
NM_000169.3(GLA):c.295dup (p.Gln99fs)
|
rs886039136
|
|
NM_000169.3(GLA):c.334C>T (p.Arg112Cys)
|
rs104894834
|
|
NM_000169.3(GLA):c.337T>C (p.Phe113Leu)
|
rs869312142
|
|
NM_000169.3(GLA):c.402T>A (p.Tyr134Ter)
|
|
|
NM_000169.3(GLA):c.469C>T (p.Gln157Ter)
|
rs797044702
|
|
NM_000169.3(GLA):c.547G>A (p.Gly183Ser)
|
rs869312324
|
|
NM_000169.3(GLA):c.677G>A (p.Trp226Ter)
|
rs398123219
|
|
NM_000169.3(GLA):c.80del (p.Pro27fs)
|
rs730880454
|
|
NM_000169.3(GLA):c.901C>G (p.Arg301Gly)
|
rs398123224
|
|
NM_000169.3(GLA):c.902G>A (p.Arg301Gln)
|
rs104894828
|
|
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter)
|
rs1600185499
|
|
NM_000214.3(JAG1):c.1369C>T (p.Gln457Ter)
|
rs863223652
|
|
NM_000214.3(JAG1):c.1424dup (p.Cys475fs)
|
|
|
NM_000214.3(JAG1):c.1563_1564del (p.Cys522fs)
|
rs2067324506
|
|
NM_000214.3(JAG1):c.165C>A (p.Cys55Ter)
|
|
|
NM_000214.3(JAG1):c.1984del (p.Ala662fs)
|
|
|
NM_000214.3(JAG1):c.3172C>T (p.Gln1058Ter)
|
|
|
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del)
|
rs397508068
|
|
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser)
|
rs199472759
|
|
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1033-1_1117dup
|
|
|
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)
|
rs397508072
|
|
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)
|
rs397508075
|
|
NM_000218.3(KCNQ1):c.107dup (p.Ser37fs)
|
|
|
NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter)
|
rs794728571
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter)
|
|
|
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His)
|
rs199472767
|
|
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs)
|
rs397508077
|
|
NM_000218.3(KCNQ1):c.1128+2T>A
|
rs2133754863
|
|
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs)
|
rs397508082
|
|
NM_000218.3(KCNQ1):c.1250dup (p.Val418fs)
|
rs2133758591
|
|
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1319_1337dup (p.Glu449fs)
|
|
|
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs)
|
rs397508087
|
|
NM_000218.3(KCNQ1):c.1356del (p.Leu453fs)
|
rs1848632145
|
|
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter)
|
rs794728527
|
|
NM_000218.3(KCNQ1):c.1394-1G>T
|
rs775537394
|
|
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs)
|
rs397508090
|
|
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)
|
rs397508091
|
|
NM_000218.3(KCNQ1):c.1514+1G>A
|
rs397508093
|
|
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)
|
rs397508096
|
|
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)
|
rs199473480
|
|
NM_000218.3(KCNQ1):c.1660del (p.Val554fs)
|
rs794728561
|
|
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)
|
rs120074185
|
|
NM_000218.3(KCNQ1):c.1686del
|
rs794728562
|
|
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)
|
rs199472805
|
|
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)
|
rs199472807
|
|
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)
|
rs120074189
|
|
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His)
|
rs199472814
|
|
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter)
|
rs794728537
|
|
NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs)
|
rs2133992401
|
|
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)
|
rs1435990592
|
|
NM_000218.3(KCNQ1):c.221dup (p.Val75fs)
|
|
|
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)
|
rs397508109
|
|
NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs)
|
rs1554958132
|
|
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)
|
rs199472687
|
|
NM_000218.3(KCNQ1):c.488del (p.Leu163fs)
|
rs397508112
|
|
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)
|
rs179489
|
|
NM_000218.3(KCNQ1):c.504del (p.Thr169fs)
|
rs397508114
|
|
NM_000218.3(KCNQ1):c.510del (p.Glu170fs)
|
rs1554892895
|
|
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs)
|
rs763462603
|
|
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter)
|
rs530612385
|
|
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)
|
rs397508117
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
NM_000218.3(KCNQ1):c.585del (p.Lys196fs)
|
rs397508120
|
|
NM_000218.3(KCNQ1):c.605-2A>G
|
rs2133728692
|
|
NM_000218.3(KCNQ1):c.713_719del (p.Met238fs)
|
|
|
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)
|
rs199472712
|
|
NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter)
|
rs1554893091
|
|
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)
|
rs120074179
|
|
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)
|
rs199472719
|
|
NM_000218.3(KCNQ1):c.796del (p.Leu266fs)
|
rs397508125
|
|
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)
|
rs120074193
|
|
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)
|
rs120074180
|
|
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs)
|
rs397508129
|
|
NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter)
|
|
|
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)
|
rs120074186
|
|
NM_000218.3(KCNQ1):c.919del (p.Val307fs)
|
rs2133733071
|
|
NM_000218.3(KCNQ1):c.931del (p.Thr311fs)
|
|
|
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser)
|
rs120074184
|
|
NM_000218.3(KCNQ1):c.940G>C (p.Gly314Arg)
|
rs120074184
|
|
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp)
|
rs199472748
|
|
NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser)
|
rs74462309
|
|
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)
|
rs74462309
|
|
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)
|
rs199472755
|
|
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)
|
rs199472756
|
|
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs)
|
rs397508134
|
|
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter)
|
rs1131691762
|
|
NM_000229.2(LCAT):c.101dup (p.His35fs)
|
|
|
NM_000237.3(LPL):c.1019-2A>T
|
rs767366957
|
|
NM_000237.3(LPL):c.1019-3C>A
|
rs2128839190
|
|
NM_000237.3(LPL):c.1322+2T>G
|
|
|
NM_000237.3(LPL):c.249+1G>A
|
rs1563569634
|
|
NM_000237.3(LPL):c.264T>A (p.Tyr88Ter)
|
rs118204065
|
|
NM_000237.3(LPL):c.566_567del (p.Asn188_Phe189insTer)
|
rs1416098529
|
|
NM_000237.3(LPL):c.58_71delinsCCTC (p.Ala20fs)
|
|
|
NM_000238.4(KCNH2):c.100del (p.Ala34fs)
|
rs794728506
|
|
NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter)
|
rs794728364
|
|
NM_000238.4(KCNH2):c.1139del (p.Leu380fs)
|
rs1563161538
|
|
NM_000238.4(KCNH2):c.1142del (p.Gly381fs)
|
rs794728497
|
|
NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu)
|
rs1554426244
|
|
NM_000238.4(KCNH2):c.1293C>A (p.Phe431Leu)
|
rs199472900
|
|
NM_000238.4(KCNH2):c.1385dup (p.Met462fs)
|
|
|
NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter)
|
rs1584883377
|
|
NM_000238.4(KCNH2):c.1557+1G>A
|
rs886039043
|
|
NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys)
|
rs199472916
|
|
NM_000238.4(KCNH2):c.1620del (p.Arg541fs)
|
rs1554425955
|
|
NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter)
|
rs1554430962
|
|
NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs)
|
|
|
NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr)
|
rs199472921
|
|
NM_000238.4(KCNH2):c.1681G>C (p.Ala561Pro)
|
rs199472921
|
|
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)
|
rs121912504
|
|
NM_000238.4(KCNH2):c.1704G>A (p.Trp568Ter)
|
rs199472926
|
|
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)
|
rs9333649
|
|
NM_000238.4(KCNH2):c.1742del (p.Ser581fs)
|
|
|
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)
|
rs121912508
|
|
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser)
|
rs199472936
|
|
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser)
|
rs199473522
|
|
NM_000238.4(KCNH2):c.1826A>G (p.Asp609Gly)
|
rs199472940
|
|
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)
|
rs199473524
|
|
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)
|
rs199472944
|
|
NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile)
|
rs199472947
|
|
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.1888del (p.Val630fs)
|
rs1554425724
|
|
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser)
|
rs199472961
|
|
NM_000238.4(KCNH2):c.1946-2A>C
|
rs794728488
|
|
NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs)
|
|
|
NM_000238.4(KCNH2):c.205_271del (p.Leu69fs)
|
|
|
NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter)
|
rs1064794793
|
|
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter)
|
rs189014161
|
|
NM_000238.4(KCNH2):c.2236del (p.Ala746fs)
|
rs1554425277
|
|
NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs)
|
|
|
NM_000238.4(KCNH2):c.234_241del (p.Ala79fs)
|
rs886039045
|
|
NM_000238.4(KCNH2):c.2376dup (p.Asp793fs)
|
|
|
NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs)
|
rs1554424849
|
|
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)
|
rs121912510
|
|
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met)
|
rs121912506
|
|
NM_000238.4(KCNH2):c.2494A>T (p.Lys832Ter)
|
rs794728393
|
|
NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter)
|
|
|
NM_000238.4(KCNH2):c.2567dup (p.Glu857fs)
|
|
|
NM_000238.4(KCNH2):c.2647del (p.Arg883fs)
|
|
|
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs)
|
rs1385959174
|
|
NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs)
|
rs1554424620
|
|
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter)
|
rs1800975855
|
|
NM_000238.4(KCNH2):c.2705del (p.Pro902fs)
|
rs1563148264
|
|
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs)
|
rs794728449
|
|
NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs)
|
|
|
NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs)
|
rs794728502
|
|
NM_000238.4(KCNH2):c.2734_2738dup (p.Ala915fs)
|
rs794728502
|
|
NM_000238.4(KCNH2):c.2734dup (p.Arg912fs)
|
|
|
NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs)
|
|
|
NM_000238.4(KCNH2):c.2762del (p.Gly921fs)
|
rs1584845263
|
|
NM_000238.4(KCNH2):c.2762dup (p.Arg922fs)
|
|
|
NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs)
|
rs1554424390
|
|
NM_000238.4(KCNH2):c.2766del (p.Pro923fs)
|
rs1554424403
|
|
NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs)
|
rs2116933379
|
|
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs)
|
rs794728455
|
|
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs)
|
rs794728458
|
|
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs)
|
rs794728462
|
|
NM_000238.4(KCNH2):c.2894del (p.Gly965fs)
|
|
|
NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs)
|
|
|
NM_000238.4(KCNH2):c.2918del (p.Leu973fs)
|
rs1800958758
|
|
NM_000238.4(KCNH2):c.2927del (p.Asp976fs)
|
|
|
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs)
|
rs748706373
|
|
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter)
|
rs794728401
|
|
NM_000238.4(KCNH2):c.307_307+1delinsTT
|
rs1554430850
|
|
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs)
|
rs1554424091
|
|
NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs)
|
rs1554424070
|
|
NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs)
|
rs1554424083
|
|
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)
|
rs1800940404
|
|
NM_000238.4(KCNH2):c.3093_3094del (p.Arg1032fs)
|
|
|
NM_000238.4(KCNH2):c.3094del (p.Arg1032fs)
|
rs864622309
|
|
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs)
|
rs794728467
|
|
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs)
|
rs794728466
|
|
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs)
|
rs1800937691
|
|
NM_000238.4(KCNH2):c.3107del (p.Gly1036fs)
|
rs794728469
|
|
NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs)
|
rs794728469
|
|
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs)
|
rs1584843033
|
|
NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter)
|
|
|
NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter)
|
rs1554423871
|
|
NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs)
|
rs1584841841
|
|
NM_000238.4(KCNH2):c.3330+1G>A
|
rs1368439403
|
|
NM_000238.4(KCNH2):c.397del (p.Met133fs)
|
|
|
NM_000238.4(KCNH2):c.422dup (p.Ala142fs)
|
rs2117011733
|
|
NM_000238.4(KCNH2):c.453del (p.Thr152fs)
|
rs761863251
|
|
NM_000238.4(KCNH2):c.453dup (p.Thr152fs)
|
rs761863251
|
|
NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter)
|
|
|
NM_000238.4(KCNH2):c.464_467del (p.Leu155fs)
|
|
|
NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter)
|
rs1057517742
|
|
NM_000238.4(KCNH2):c.557dup (p.Gly187fs)
|
|
|
NM_000238.4(KCNH2):c.565_568del (p.Gly189fs)
|
rs794728420
|
|
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)
|
rs730880116
|
|
NM_000238.4(KCNH2):c.735dup (p.Gly246fs)
|
|
|
NM_000238.4(KCNH2):c.749C>A (p.Ser250Ter)
|
rs794728360
|
|
NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs)
|
rs1554427697
|
|
NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs)
|
rs1554427692
|
|
NM_000238.4(KCNH2):c.892_904del (p.Pro298fs)
|
|
|
NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs)
|
rs1554427596
|
|
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter)
|
rs730880631
|
|
NM_000256.3(MYBPC3):c.1049del (p.Lys350fs)
|
|
|
NM_000256.3(MYBPC3):c.1090+1G>A
|
rs727504269
|
|
NM_000256.3(MYBPC3):c.1091-2A>C
|
|
|
NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs)
|
rs1555122462
|
|
NM_000256.3(MYBPC3):c.1120dup (p.Gln374fs)
|
rs730880688
|
|
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs)
|
rs730880724
|
|
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer)
|
rs397515894
|
|
NM_000256.3(MYBPC3):c.1236dup (p.Glu413Ter)
|
rs397515894
|
|
NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter)
|
rs190228518
|
|
NM_000256.3(MYBPC3):c.1308C>A (p.Cys436Ter)
|
|
|
NM_000256.3(MYBPC3):c.1316del (p.Gly439fs)
|
rs730880710
|
|
NM_000256.3(MYBPC3):c.1350del (p.Glu451fs)
|
|
|
NM_000256.3(MYBPC3):c.1351+1G>C
|
rs727503204
|
|
NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter)
|
rs786204338
|
|
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs)
|
rs727503203
|
|
NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter)
|
rs730880538
|
|
NM_000256.3(MYBPC3):c.1405C>T (p.Gln469Ter)
|
rs730880539
|
|
NM_000256.3(MYBPC3):c.1447C>T (p.Gln483Ter)
|
rs730880541
|
|
NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter)
|
rs730880542
|
|
NM_000256.3(MYBPC3):c.1458-1G>A
|
rs397515903
|
|
NM_000256.3(MYBPC3):c.1458G>A (p.Trp486Ter)
|
rs1057517920
|
|
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1483del (p.Arg495fs)
|
rs1555122196
|
|
NM_000256.3(MYBPC3):c.1531del (p.His511fs)
|
|
|
NM_000256.3(MYBPC3):c.1570_1594del (p.His524fs)
|
rs1555122156
|
|
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs)
|
rs2142860924
|
|
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter)
|
rs397515910
|
|
NM_000256.3(MYBPC3):c.1595_1596delinsT (p.Gly532fs)
|
|
|
NM_000256.3(MYBPC3):c.1595del (p.Gly532fs)
|
rs730880640
|
|
NM_000256.3(MYBPC3):c.1597C>T (p.Gln533Ter)
|
|
|
NM_000256.3(MYBPC3):c.1624+2T>C
|
rs111437311
|
|
NM_000256.3(MYBPC3):c.1633_1640del (p.Leu545fs)
|
rs878853831
|
|
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs)
|
rs398123279
|
|
NM_000256.3(MYBPC3):c.1729_1730del (p.Trp577fs)
|
rs1565627536
|
|
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter)
|
rs730880546
|
|
NM_000256.3(MYBPC3):c.1776_1777del (p.Ser593fs)
|
rs730880713
|
|
NM_000256.3(MYBPC3):c.1777del (p.Ser593fs)
|
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs)
|
rs397515926
|
|
NM_000256.3(MYBPC3):c.1812_1813dup (p.Asp605fs)
|
rs764743402
|
|
NM_000256.3(MYBPC3):c.1827_1846delinsTACAGC (p.Asp610fs)
|
rs1555121907
|
|
NM_000256.3(MYBPC3):c.1831G>T (p.Glu611Ter)
|
rs730880555
|
|
NM_000256.3(MYBPC3):c.1890del (p.Phe631fs)
|
rs1565627110
|
|
NM_000256.3(MYBPC3):c.1900del (p.Val634fs)
|
rs2142859074
|
|
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter)
|
rs727504293
|
|
NM_000256.3(MYBPC3):c.1927G>T (p.Glu643Ter)
|
rs1555121871
|
|
NM_000256.3(MYBPC3):c.1928-2A>G
|
rs397515937
|
|
NM_000256.3(MYBPC3):c.1950del (p.Cys651fs)
|
|
|
NM_000256.3(MYBPC3):c.1960_1971delinsT (p.Arg654fs)
|
|
|
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)
|
rs727503192
|
|
NM_000256.3(MYBPC3):c.2015del (p.Pro672fs)
|
|
|
NM_000256.3(MYBPC3):c.2067+1G>A
|
rs1444727212
|
|
NM_000256.3(MYBPC3):c.2079_2085del (p.Pro694fs)
|
|
|
NM_000256.3(MYBPC3):c.2082_2086del (p.Arg696fs)
|
|
|
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs)
|
rs397515947
|
|
NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs)
|
rs397515948
|
|
NM_000256.3(MYBPC3):c.2149-1G>A
|
rs727504334
|
|
NM_000256.3(MYBPC3):c.2158G>T (p.Glu720Ter)
|
rs886039028
|
|
NM_000256.3(MYBPC3):c.2221del (p.Ala741fs)
|
rs730880650
|
|
NM_000256.3(MYBPC3):c.2281del (p.Gln761fs)
|
|
|
NM_000256.3(MYBPC3):c.2309-2A>G
|
rs111729952
|
|
NM_000256.3(MYBPC3):c.230del (p.Gly77fs)
|
|
|
NM_000256.3(MYBPC3):c.2310del (p.Asp770fs)
|
rs1555121331
|
|
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs)
|
rs397515960
|
|
NM_000256.3(MYBPC3):c.2334del (p.Lys779fs)
|
rs1057518030
|
|
NM_000256.3(MYBPC3):c.2364C>A (p.Cys788Ter)
|
|
|
NM_000256.3(MYBPC3):c.236dup (p.Tyr79Ter)
|
rs1057517939
|
|
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter)
|
rs863225106
|
|
NM_000256.3(MYBPC3):c.2451del (p.Trp818fs)
|
rs1555121247
|
|
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs)
|
rs730880652
|
|
NM_000256.3(MYBPC3):c.25+1G>A
|
rs113709679
|
|
NM_000256.3(MYBPC3):c.2500_2501del (p.Arg834fs)
|
|
|
NM_000256.3(MYBPC3):c.2503del (p.Arg835fs)
|
|
|
NM_000256.3(MYBPC3):c.2526C>A (p.Tyr842Ter)
|
rs373792537
|
|
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs)
|
rs397515975
|
|
NM_000256.3(MYBPC3):c.2584C>T (p.Gln862Ter)
|
|
|
NM_000256.3(MYBPC3):c.2603-2A>G
|
rs1419155559
|
|
NM_000256.3(MYBPC3):c.2604_2605insA (p.Pro869fs)
|
rs1555120956
|
|
NM_000256.3(MYBPC3):c.2639_2642dup (p.Ser882fs)
|
|
|
NM_000256.3(MYBPC3):c.2700_2703dup (p.Asp902fs)
|
rs1555120927
|
|
NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs)
|
rs730880657
|
|
NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter)
|
rs886038822
|
|
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter)
|
rs727504349
|
|
NM_000256.3(MYBPC3):c.2766del (p.Gly922_Leu923insTer)
|
rs1565624196
|
|
NM_000256.3(MYBPC3):c.2767del (p.Gly922_Leu923insTer)
|
rs2142853009
|
|
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs)
|
rs727504265
|
|
NM_000256.3(MYBPC3):c.2807del (p.Thr936fs)
|
|
|
NM_000256.3(MYBPC3):c.2842_2843del (p.Asn948fs)
|
rs2142852888
|
|
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs)
|
rs727503182
|
|
NM_000256.3(MYBPC3):c.2905+1G>A
|
rs397515991
|
|
NM_000256.3(MYBPC3):c.2906-2A>G
|
rs727504333
|
|
NM_000256.3(MYBPC3):c.2990del (p.Phe997fs)
|
|
|
NM_000256.3(MYBPC3):c.29C>A (p.Ser10Ter)
|
|
|
NM_000256.3(MYBPC3):c.3079G>AA
|
rs730880666
|
|
NM_000256.3(MYBPC3):c.310del (p.Leu104fs)
|
rs1565631428
|
|
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs)
|
rs1064793202
|
|
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs)
|
rs397516007
|
|
NM_000256.3(MYBPC3):c.3208C>T (p.Gln1070Ter)
|
|
|
NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs)
|
rs1555120529
|
|
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter)
|
rs397516006
|
|
NM_000256.3(MYBPC3):c.3240dup (p.Asn1081Ter)
|
|
|
NM_000256.3(MYBPC3):c.3242dup (p.Asn1081fs)
|
|
|
NM_000256.3(MYBPC3):c.3273_3280delinsACTCTGGGGGTACAC (p.Asp1091fs)
|
|
|
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)
|
rs727503172
|
|
NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter)
|
rs767039057
|
|
NM_000256.3(MYBPC3):c.3302del (p.Thr1101fs)
|
rs730880670
|
|
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs)
|
rs730880672
|
|
NM_000256.3(MYBPC3):c.3328del (p.Met1110fs)
|
rs2142850736
|
|
NM_000256.3(MYBPC3):c.3330+2T>A
|
rs387906397
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3331-1G>A
|
rs727504305
|
|
NM_000256.3(MYBPC3):c.3331-1G>C
|
rs727504305
|
|
NM_000256.3(MYBPC3):c.3369_3370insA (p.Cys1124fs)
|
|
|
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)
|
rs727504289
|
|
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs)
|
rs730880720
|
|
NM_000256.3(MYBPC3):c.3490+1G>A
|
rs397516020
|
|
NM_000256.3(MYBPC3):c.3491-1G>A
|
|
|
NM_000256.3(MYBPC3):c.350del (p.Pro117fs)
|
rs397516023
|
|
NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter)
|
rs730880699
|
|
NM_000256.3(MYBPC3):c.3607_3611dup (p.Arg1205fs)
|
|
|
NM_000256.3(MYBPC3):c.3627+1G>A
|
rs397516031
|
|
NM_000256.3(MYBPC3):c.3627+2del
|
rs1555120258
|
|
NM_000256.3(MYBPC3):c.362del (p.Pro121fs)
|
rs397516032
|
|
NM_000256.3(MYBPC3):c.3702_3703del (p.Leu1236fs)
|
rs2142849399
|
|
NM_000256.3(MYBPC3):c.3720dup (p.Arg1241Ter)
|
|
|
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer)
|
rs1057517767
|
|
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
|
rs193922384
|
|
NM_000256.3(MYBPC3):c.3773T>A (p.Leu1258Ter)
|
rs730880604
|
|
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter)
|
rs730880604
|
|
NM_000256.3(MYBPC3):c.379dup (p.Leu127fs)
|
|
|
NM_000256.3(MYBPC3):c.405dup (p.Gly136fs)
|
rs1555123597
|
|
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter)
|
rs730880704
|
|
NM_000256.3(MYBPC3):c.480del (p.Pro161fs)
|
rs1555123496
|
|
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter)
|
rs730880618
|
|
NM_000256.3(MYBPC3):c.505_505+7del
|
rs1555123473
|
|
NM_000256.3(MYBPC3):c.528_532del (p.Arg177fs)
|
|
|
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs)
|
rs397516059
|
|
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter)
|
rs397516061
|
|
NM_000256.3(MYBPC3):c.653delinsGCTGGTGACCC (p.Lys218delinsSerTrpTer)
|
|
|
NM_000256.3(MYBPC3):c.655-1G>A
|
rs397516067
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000256.3(MYBPC3):c.660T>G (p.Tyr220Ter)
|
rs1555123138
|
|
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser)
|
rs397516070
|
|
NM_000256.3(MYBPC3):c.772+1G>A
|
rs397516072
|
|
NM_000256.3(MYBPC3):c.775del (p.Ala259fs)
|
|
|
NM_000256.3(MYBPC3):c.787G>T (p.Gly263Ter)
|
rs373730381
|
|
NM_000256.3(MYBPC3):c.821+1G>C
|
rs397516073
|
|
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)
|
rs727503212
|
|
NM_000256.3(MYBPC3):c.862G>T (p.Glu288Ter)
|
|
|
NM_000256.3(MYBPC3):c.884del (p.Phe295fs)
|
rs730880684
|
|
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)
|
rs730880629
|
|
NM_000256.3(MYBPC3):c.906-36G>A
|
rs864622197
|
|
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)
|
rs397516080
|
|
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)
|
rs193922386
|
|
NM_000256.3(MYBPC3):c.965G>A (p.Trp322Ter)
|
rs2142864321
|
|
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter)
|
rs727503211
|
|
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs)
|
rs745811346
|
|
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter)
|
rs367947846
|
|
NM_000257.3(MYH7):c.4522_4524del
|
rs397516220
|
|
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.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro)
|
rs121913642
|
|
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)
|
rs121913626
|
|
NM_000257.4(MYH7):c.1955G>A (p.Arg652Lys)
|
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)
|
rs727503263
|
|
NM_000257.4(MYH7):c.2150A>C (p.Asp717Ala)
|
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)
|
rs727503261
|
|
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg)
|
rs727503260
|
|
NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg)
|
rs727503260
|
|
NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu)
|
rs2069544
|
|
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)
|
rs2069544
|
|
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)
|
rs727504310
|
|
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.2770G>A (p.Glu924Lys)
|
rs121913628
|
|
NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys)
|
rs397516171
|
|
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del)
|
rs367543052
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys)
|
rs730880922
|
|
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)
|
rs3218713
|
|
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)
|
rs397516269
|
|
NM_000335.5(SCN5A):c.1230del (p.Val411fs)
|
|
|
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)
|
rs72549410
|
|
NM_000335.5(SCN5A):c.1338+2T>A
|
rs786204839
|
|
NM_000335.5(SCN5A):c.1460_1461dup (p.Glu488fs)
|
|
|
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter)
|
rs1417036453
|
|
NM_000335.5(SCN5A):c.1679C>G (p.Ser560Ter)
|
|
|
NM_000335.5(SCN5A):c.1894_1897del (p.Thr632fs)
|
|
|
NM_000335.5(SCN5A):c.1936del (p.Gln646fs)
|
rs727505158
|
|
NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter)
|
rs1553607561
|
|
NM_000335.5(SCN5A):c.2082C>A (p.Tyr694Ter)
|
|
|
NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg)
|
rs199473153
|
|
NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg)
|
|
|
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)
|
rs199473161
|
|
NM_000335.5(SCN5A):c.2520del (p.Asn841fs)
|
|
|
NM_000335.5(SCN5A):c.2533del (p.Val845fs)
|
rs794728912
|
|
NM_000335.5(SCN5A):c.2533dup (p.Val845fs)
|
rs794728912
|
|
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs)
|
rs397514450
|
|
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter)
|
rs794728865
|
|
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs)
|
rs794728914
|
|
NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs)
|
|
|
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs)
|
rs756159737
|
|
NM_000335.5(SCN5A):c.2998C>T (p.Gln1000Ter)
|
|
|
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)
|
rs199473055
|
|
NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs)
|
rs794728917
|
|
NM_000335.5(SCN5A):c.3259del (p.Ala1087fs)
|
rs1553699292
|
|
NM_000335.5(SCN5A):c.3281G>A (p.Trp1094Ter)
|
|
|
NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter)
|
|
|
NM_000335.5(SCN5A):c.3458del (p.Ile1153fs)
|
|
|
NM_000335.5(SCN5A):c.3693del (p.Lys1232fs)
|
|
|
NM_000335.5(SCN5A):c.3762del (p.Leu1255fs)
|
rs2125849694
|
|
NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter)
|
rs1553696647
|
|
NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu)
|
rs199473225
|
|
NM_000335.5(SCN5A):c.4085del (p.Cys1362fs)
|
rs2125840793
|
|
NM_000335.5(SCN5A):c.40del (p.Arg14fs)
|
|
|
NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter)
|
rs1553695282
|
|
NM_000335.5(SCN5A):c.4179C>G (p.Tyr1393Ter)
|
rs863224532
|
|
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)
|
rs137854612
|
|
NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer)
|
rs1553694426
|
|
NM_000335.5(SCN5A):c.4420del (p.Gln1474fs)
|
rs886039018
|
|
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del)
|
rs397514251
|
|
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)
|
rs199473062
|
|
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)
|
rs137854613
|
|
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys)
|
rs137854614
|
|
NM_000335.5(SCN5A):c.576del (p.Trp193fs)
|
rs2062303387
|
|
NM_000335.5(SCN5A):c.611+1G>A
|
rs794728843
|
|
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)
|
rs794728849
|
|
NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter)
|
rs1060501136
|
|
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)
|
rs104894724
|
|
NM_000363.5(TNNI3):c.523C>T (p.Gln175Ter)
|
rs876661394
|
|
NM_000363.5(TNNI3):c.575G>A (p.Arg192His)
|
rs104894729
|
|
NM_000363.5(TNNI3):c.611G>A (p.Arg204His)
|
rs727504275
|
|
NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys)
|
rs267607128
|
|
NM_000371.4(TTR):c.112G>A (p.Asp38Asn)
|
rs1567945632
|
|
NM_000371.4(TTR):c.114T>A (p.Asp38Glu)
|
rs779619795
|
|
NM_000371.4(TTR):c.148G>C (p.Val50Leu)
|
rs28933979
|
|
NM_000371.4(TTR):c.157T>C (p.Phe53Leu)
|
rs121918068
|
|
NM_000371.4(TTR):c.173A>C (p.Asp58Ala)
|
rs1598844213
|
|
NM_000371.4(TTR):c.193G>A (p.Ala65Thr)
|
rs121918078
|
|
NM_000371.4(TTR):c.200G>A (p.Gly67Glu)
|
rs121918090
|
|
NM_000371.4(TTR):c.200G>C (p.Gly67Ala)
|
rs121918090
|
|
NM_000371.4(TTR):c.200G>T (p.Gly67Val)
|
rs121918090
|
|
NM_000371.4(TTR):c.210T>A (p.Ser70Arg)
|
rs121918076
|
|
NM_000371.4(TTR):c.210T>G (p.Ser70Arg)
|
rs121918076
|
|
NM_000371.4(TTR):c.214T>C (p.Ser72Pro)
|
rs2144409444
|
|
NM_000371.4(TTR):c.220G>A (p.Glu74Lys)
|
rs1555631393
|
|
NM_000371.4(TTR):c.221A>G (p.Glu74Gly)
|
rs1598845097
|
|
NM_000371.4(TTR):c.233T>A (p.Leu78His)
|
rs121918069
|
|
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)
|
rs121918091
|
|
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071
|
|
NM_000371.4(TTR):c.290C>T (p.Ser97Phe)
|
|
|
NM_000371.4(TTR):c.311T>G (p.Ile104Ser)
|
rs121918072
|
|
NM_000371.4(TTR):c.323A>G (p.His108Arg)
|
rs2073511411
|
|
NM_000371.4(TTR):c.325G>A (p.Glu109Lys)
|
rs121918082
|
|
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)
|
rs121918082
|
|
NM_000371.4(TTR):c.379A>G (p.Ile127Val)
|
rs121918089
|
|
NM_000371.4(TTR):c.94C>G (p.Leu32Val)
|
rs2144406525
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000384.3(APOB):c.11040T>G (p.Tyr3680Ter)
|
rs1663118269
|
|
NM_000384.3(APOB):c.4006C>T (p.Gln1336Ter)
|
rs1663384393
|
|
NM_000483.5(APOC2):c.196_197del (p.Ala66fs)
|
rs751214954
|
|
NM_000527.4(LDLR):c.-136C>T
|
rs879254374
|
|
NM_000527.4(LDLR):c.1706_1715delATCTCCTCAG
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly)
|
rs879254405
|
|
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)
|
rs879254753
|
|
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
|
|
|
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)
|
rs755757866
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
|
|
|
NM_000527.5(LDLR):c.1046dup (p.Arg350fs)
|
rs1555804545
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp)
|
rs13306515
|
|
NM_000527.5(LDLR):c.1056_1060+3del
|
rs879254770
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)
|
rs879254791
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter)
|
rs113669610
|
|
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
|
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)
|
rs879254800
|
|
NM_000527.5(LDLR):c.1129T>C (p.Cys377Arg)
|
|
|
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr)
|
rs879254801
|
|
NM_000527.5(LDLR):c.1130G>C (p.Cys377Ser)
|
rs879254801
|
|
NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe)
|
rs879254801
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
|
|
NM_000527.5(LDLR):c.1164del (p.His388fs)
|
|
|
NM_000527.5(LDLR):c.1169del (p.Lys390fs)
|
|
|
NM_000527.5(LDLR):c.1186+1G>T
|
rs730880131
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp)
|
rs875989918
|
|
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del)
|
rs879254826
|
|
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)
|
rs201016593
|
|
NM_000527.5(LDLR):c.1202T>A (p.Leu401His)
|
rs121908038
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs)
|
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
NM_000527.5(LDLR):c.1255dup (p.Tyr419fs)
|
rs2077408827
|
|
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter)
|
rs774439908
|
|
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr)
|
rs879254849
|
|
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1284del (p.Asn428fs)
|
rs2077409930
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000527.5(LDLR):c.1309_1310insTCGCTCTGGACACGTAGGTGG (p.Ala437delinsValAlaLeuAspThrTer)
|
rs2077410686
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter)
|
rs879254867
|
|
NM_000527.5(LDLR):c.132G>A (p.Trp44Ter)
|
rs1555802287
|
|
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
|
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
NM_000527.5(LDLR):c.1361_1364del (p.Thr454fs)
|
|
|
NM_000527.5(LDLR):c.136_142del (p.Cys46fs)
|
|
|
NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs)
|
rs1555805360
|
|
NM_000527.5(LDLR):c.1428dup (p.Asp477fs)
|
rs876657697
|
|
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg)
|
rs879254905
|
|
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)
|
rs730880130
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)
|
rs869025453
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
NM_000527.5(LDLR):c.1586+1G>A
|
|
|
NM_000527.5(LDLR):c.1587-1G>A
|
rs879254948
|
|
NM_000527.5(LDLR):c.1597T>A (p.Trp533Arg)
|
|
|
NM_000527.5(LDLR):c.1613_1622del (p.Thr538fs)
|
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter)
|
rs879254985
|
|
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1705+1G>A
|
rs875989926
|
|
NM_000527.5(LDLR):c.1706-1G>T
|
rs879254996
|
|
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg)
|
rs879255000
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn)
|
rs875989929
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs)
|
rs879255020
|
|
NM_000527.5(LDLR):c.1808dup (p.Arg604fs)
|
rs1555806526
|
|
NM_000527.5(LDLR):c.1810_1811del (p.Arg604fs)
|
|
|
NM_000527.5(LDLR):c.1844A>T (p.Glu615Val)
|
rs879255046
|
|
NM_000527.5(LDLR):c.1845+1G>A
|
rs879255049
|
|
NM_000527.5(LDLR):c.1845+2T>C
|
|
|
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly)
|
rs879255060
|
|
NM_000527.5(LDLR):c.1867dup (p.Ile623fs)
|
rs1555807206
|
|
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
|
|
|
NM_000527.5(LDLR):c.1876G>T (p.Glu626Ter)
|
|
|
NM_000527.5(LDLR):c.1878del (p.Ala627fs)
|
rs1057516134
|
|
NM_000527.5(LDLR):c.1886del (p.Phe629fs)
|
rs879255068
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000527.5(LDLR):c.190+1G>A
|
rs879254428
|
|
NM_000527.5(LDLR):c.191-1G>A
|
rs879254433
|
|
NM_000527.5(LDLR):c.191-2A>G
|
rs544203837
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter)
|
rs2077524952
|
|
NM_000527.5(LDLR):c.193_202delinsGGACTTCA (p.Ser65fs)
|
|
|
NM_000527.5(LDLR):c.1955dup (p.Met652fs)
|
|
|
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs)
|
rs879254435
|
|
NM_000527.5(LDLR):c.1988-50_2007del
|
|
|
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter)
|
rs752935814
|
|
NM_000527.5(LDLR):c.1A>G (p.Met1Val)
|
rs879254382
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter)
|
rs879255109
|
|
NM_000527.5(LDLR):c.2027del (p.Gly676fs)
|
rs875989937
|
|
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter)
|
rs760436036
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
NM_000527.5(LDLR):c.2055_2068del (p.Gln686fs)
|
rs2077532372
|
|
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter)
|
rs879255126
|
|
NM_000527.5(LDLR):c.2068del (p.His690fs)
|
rs879255130
|
|
NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter)
|
rs369943481
|
|
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp)
|
rs879255137
|
|
NM_000527.5(LDLR):c.2099_2102dup (p.Met702fs)
|
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
NM_000527.5(LDLR):c.2140+1G>T
|
rs145787161
|
|
NM_000527.5(LDLR):c.214del (p.Asp72fs)
|
rs879254438
|
|
NM_000527.5(LDLR):c.2167del (p.Glu723fs)
|
rs879255153
|
|
NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs)
|
rs1555808044
|
|
NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs)
|
rs879255159
|
|
NM_000527.5(LDLR):c.2207dup (p.Arg737fs)
|
rs879255164
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
NM_000527.5(LDLR):c.2270del (p.Pro757fs)
|
rs1131692223
|
|
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
|
|
|
NM_000527.5(LDLR):c.2274del (p.Leu759fs)
|
rs1555808139
|
|
NM_000527.5(LDLR):c.2292del (p.Ile764fs)
|
rs875989941
|
|
NM_000527.5(LDLR):c.2311+1G>A
|
rs879255175
|
|
NM_000527.5(LDLR):c.2311+1G>T
|
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
|
|
NM_000527.5(LDLR):c.2340del (p.Asn780fs)
|
|
|
NM_000527.5(LDLR):c.2389+1G>T
|
rs879255186
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu)
|
rs750518671
|
|
NM_000527.5(LDLR):c.2390-2A>G
|
rs767790696
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
|
|
|
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter)
|
rs879255212
|
|
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)
|
rs374045590
|
|
NM_000527.5(LDLR):c.2478del (p.Val827fs)
|
rs747344293
|
|
NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs)
|
rs1600704961
|
|
NM_000527.5(LDLR):c.2502dup (p.Glu835Ter)
|
|
|
NM_000527.5(LDLR):c.2547+1G>T
|
|
|
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp)
|
rs777640882
|
|
NM_000527.5(LDLR):c.269A>C (p.Asp90Ala)
|
rs771019366
|
|
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)
|
rs771019366
|
|
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu)
|
rs372828849
|
|
NM_000527.5(LDLR):c.283T>C (p.Cys95Arg)
|
rs879254456
|
|
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe)
|
rs879254457
|
|
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter)
|
rs377271627
|
|
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)
|
rs563390335
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.313+2dup
|
rs875989897
|
|
NM_000527.5(LDLR):c.314-1G>A
|
rs879254471
|
|
NM_000527.5(LDLR):c.320del (p.Lys107fs)
|
|
|
NM_000527.5(LDLR):c.334_349dup (p.His117fs)
|
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
NM_000527.5(LDLR):c.337dup (p.Glu113fs)
|
rs752191968
|
|
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter)
|
rs875989899
|
|
NM_000527.5(LDLR):c.378del (p.Phe126fs)
|
rs1555803213
|
|
NM_000527.5(LDLR):c.400T>A (p.Cys134Ser)
|
|
|
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg)
|
rs875989900
|
|
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr)
|
rs879254514
|
|
NM_000527.5(LDLR):c.415_416del (p.Asp139fs)
|
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
NM_000527.5(LDLR):c.41dup (p.Leu14fs)
|
rs879254388
|
|
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)
|
rs879254520
|
|
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr)
|
rs879254522
|
|
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr)
|
rs879254526
|
|
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
|
rs879254535
|
|
NM_000527.5(LDLR):c.467del (p.Asn156fs)
|
rs1057516135
|
|
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg)
|
rs879254540
|
|
NM_000527.5(LDLR):c.478T>G (p.Cys160Gly)
|
rs879254540
|
|
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
|
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
NM_000527.5(LDLR):c.502G>C (p.Asp168His)
|
rs200727689
|
|
NM_000527.5(LDLR):c.513del (p.Asp172fs)
|
rs879254552
|
|
NM_000527.5(LDLR):c.513dup (p.Asp172fs)
|
rs879254552
|
|
NM_000527.5(LDLR):c.518del (p.Cys173fs)
|
rs879254559
|
|
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)
|
rs769318035
|
|
NM_000527.5(LDLR):c.520G>T (p.Glu174Ter)
|
rs777326720
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000527.5(LDLR):c.557del (p.Gly186fs)
|
rs879254573
|
|
NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter)
|
rs121908034
|
|
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter)
|
rs121908034
|
|
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg)
|
rs730882085
|
|
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)
|
rs730882085
|
|
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)
|
rs376459828
|
|
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp)
|
rs879254584
|
|
NM_000527.5(LDLR):c.610T>C (p.Cys204Arg)
|
rs1057519655
|
|
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044
|
|
NM_000527.5(LDLR):c.642G>A (p.Trp214Ter)
|
rs879254606
|
|
NM_000527.5(LDLR):c.648_665del (p.Asp217_Cys222del)
|
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000527.5(LDLR):c.653del (p.Gly218fs)
|
rs137853966
|
|
NM_000527.5(LDLR):c.660del (p.Asp221fs)
|
rs875989905
|
|
NM_000527.5(LDLR):c.661delinsATCAC (p.Asp221fs)
|
rs2077280444
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup)
|
rs879254620
|
|
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr)
|
rs730882086
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
NM_000527.5(LDLR):c.671A>T (p.Asp224Val)
|
rs879254630
|
|
NM_000527.5(LDLR):c.678del (p.Asp227fs)
|
|
|
NM_000527.5(LDLR):c.68-1G>C
|
rs879254397
|
|
NM_000527.5(LDLR):c.68-2A>T
|
rs879254396
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs)
|
rs879254637
|
|
NM_000527.5(LDLR):c.681C>A (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
|
|
|
NM_000527.5(LDLR):c.691T>C (p.Cys231Arg)
|
rs746091400
|
|
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly)
|
rs746091400
|
|
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
|
|
|
NM_000527.5(LDLR):c.693C>G (p.Cys231Trp)
|
rs121908035
|
|
NM_000527.5(LDLR):c.694+1G>T
|
rs879254646
|
|
NM_000527.5(LDLR):c.695-1G>A
|
rs879254652
|
|
NM_000527.5(LDLR):c.695-1G>C
|
|
|
NM_000527.5(LDLR):c.6del (p.Trp4fs)
|
rs875989888
|
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
|
NM_000527.5(LDLR):c.779_782del (p.Asp260fs)
|
rs1600713742
|
|
NM_000527.5(LDLR):c.796G>C (p.Asp266His)
|
|
|
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr)
|
rs875989907
|
|
NM_000527.5(LDLR):c.818-1G>A
|
rs879254688
|
|
NM_000527.5(LDLR):c.818-2A>G
|
|
|
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)
|
rs2228671
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000527.5(LDLR):c.825_826del (p.Cys276fs)
|
rs879254691
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.881_882del (p.Lys294fs)
|
rs879254704
|
|
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)
|
rs875989909
|
|
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)
|
rs11547917
|
|
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter)
|
rs776421777
|
|
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)
|
rs875989910
|
|
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter)
|
rs13306512
|
|
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
|
|
|
NM_000527.5(LDLR):c.966del (p.Asn322fs)
|
rs2077361078
|
|
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)
|
rs879254746
|
|
NM_000527.5(LDLR):c.979del (p.His327fs)
|
rs2077361581
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs79891110
|
|
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)
|
rs786205748
|
|
NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs)
|
|
|
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)
|
rs1559391480
|
|
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)
|
rs386352319
|
|
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)
|
rs104894580
|
|
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)
|
rs199473373
|
|
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)
|
rs199473384
|
|
NM_001005242.3(PKP2):c.1003G>T (p.Glu335Ter)
|
rs1396519956
|
|
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter)
|
rs878898365
|
|
NM_001005242.3(PKP2):c.1170+2T>A
|
rs397516987
|
|
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter)
|
rs786204393
|
|
NM_001005242.3(PKP2):c.1211dup (p.Val406fs)
|
rs397516989
|
|
NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter)
|
rs1555145520
|
|
NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter)
|
rs1565590309
|
|
NM_001005242.3(PKP2):c.1368del (p.Lys456fs)
|
rs1393661338
|
|
NM_001005242.3(PKP2):c.1378+1G>C
|
rs397516994
|
|
NM_001005242.3(PKP2):c.1378+2T>A
|
rs762103704
|
|
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs)
|
rs930283260
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
NM_001005242.3(PKP2):c.1511del (p.Gly504fs)
|
rs794729137
|
|
NM_001005242.3(PKP2):c.1532del (p.Phe511fs)
|
rs794729127
|
|
NM_001005242.3(PKP2):c.1556+1G>A
|
rs397517003
|
|
NM_001005242.3(PKP2):c.1627del (p.Val543fs)
|
rs397517008
|
|
NM_001005242.3(PKP2):c.1667del (p.Asp556fs)
|
rs794729128
|
|
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)
|
rs397517010
|
|
NM_001005242.3(PKP2):c.1769del (p.Asn590fs)
|
rs1064793231
|
|
NM_001005242.3(PKP2):c.1771del (p.Arg591fs)
|
rs1555142984
|
|
NM_001005242.3(PKP2):c.1788_1789del (p.Asp596fs)
|
|
|
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs)
|
rs1555142963
|
|
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs)
|
rs397517013
|
|
NM_001005242.3(PKP2):c.1881del (p.Lys628fs)
|
rs764817683
|
|
NM_001005242.3(PKP2):c.190dup (p.Leu64fs)
|
rs762288961
|
|
NM_001005242.3(PKP2):c.1993del (p.Leu665fs)
|
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter)
|
rs121434421
|
|
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs)
|
rs1064794350
|
|
NM_001005242.3(PKP2):c.218dup (p.Asn74fs)
|
rs1257456477
|
|
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)
|
rs794729098
|
|
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)
|
rs727504432
|
|
NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter)
|
rs2137953226
|
|
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs)
|
rs786204388
|
|
NM_001005242.3(PKP2):c.257dup (p.Tyr86Ter)
|
rs1555148271
|
|
NM_001005242.3(PKP2):c.270_273delinsTGGTTGTAGATGATT (p.His91delinsGlyCysArgTer)
|
|
|
NM_001005242.3(PKP2):c.337-2A>T
|
rs786204389
|
|
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter)
|
rs760576804
|
|
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter)
|
rs774663443
|
|
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter)
|
rs794729132
|
|
NM_001005242.3(PKP2):c.451del (p.Ser151fs)
|
|
|
NM_001005242.3(PKP2):c.623del (p.Thr208fs)
|
rs794729122
|
|
NM_001005242.3(PKP2):c.795_811dup (p.Val271fs)
|
rs1555148090
|
|
NM_001005242.3(PKP2):c.963del (p.Gly322fs)
|
|
|
NM_001005242.3(PKP2):c.964_977del (p.Gly322fs)
|
|
|
NM_001005242.3(PKP2):c.971_972insT (p.Ala325fs)
|
|
|
NM_001010874.5(TECRL):c.137dup (p.Arg47fs)
|
|
|
NM_001010874.5(TECRL):c.202C>T (p.Gln68Ter)
|
|
|
NM_001010874.5(TECRL):c.206del (p.Thr69fs)
|
|
|
NM_001010874.5(TECRL):c.438del (p.Leu148fs)
|
|
|
NM_001010874.5(TECRL):c.586C>T (p.Arg196Ter)
|
|
|
NM_001010874.5(TECRL):c.616A>T (p.Lys206Ter)
|
|
|
NM_001010874.5(TECRL):c.675G>A (p.Trp225Ter)
|
|
|
NM_001010874.5(TECRL):c.736G>T (p.Gly246Ter)
|
|
|
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)
|
rs199476315
|
|
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)
|
rs1401116572
|
|
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)
|
rs794728721
|
|
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)
|
rs121918600
|
|
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)
|
rs794728804
|
|
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)
|
rs397516539
|
|
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)
|
rs794728708
|
|
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)
|
rs121918597
|
|
NM_001077653.2(TBX20):c.390dup (p.Pro131fs)
|
|
|
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)
|
rs750176716
|
|
NM_001079802.2(FKTN):c.1167del (p.Lys389fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)
|
rs1564301594
|
|
NM_001079802.2(FKTN):c.786C>A (p.Tyr262Ter)
|
|
|
NM_001114753.3(ENG):c.-127C>T
|
rs1060501408
|
|
NM_001114753.3(ENG):c.1002_1003delinsCT (p.Gln335Ter)
|
|
|
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
|
|
|
NM_001114753.3(ENG):c.1042_1054del (p.Asp348fs)
|
|
|
NM_001114753.3(ENG):c.1071_1080dup (p.Thr361fs)
|
|
|
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)
|
rs863223540
|
|
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs)
|
rs1554810051
|
|
NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)
|
|
|
NM_001114753.3(ENG):c.1088dup (p.Cys363fs)
|
|
|
NM_001114753.3(ENG):c.1099_1102del (p.Asp366_Ala367insTer)
|
|
|
NM_001114753.3(ENG):c.1104del (p.Met368fs)
|
|
|
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs)
|
rs1064793734
|
|
NM_001114753.3(ENG):c.1122_1125del (p.Lys374fs)
|
|
|
NM_001114753.3(ENG):c.1139dup (p.Leu380fs)
|
|
|
NM_001114753.3(ENG):c.1146C>A (p.Cys382Ter)
|
|
|
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del)
|
rs1588577016
|
|
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter)
|
rs1564453619
|
|
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter)
|
|
|
NM_001114753.3(ENG):c.1176del (p.Ser393fs)
|
|
|
NM_001114753.3(ENG):c.1181dup (p.Cys394fs)
|
|
|
NM_001114753.3(ENG):c.1195del (p.Arg399fs)
|
rs1131691444
|
|
NM_001114753.3(ENG):c.1205_1208dup (p.Phe403fs)
|
|
|
NM_001114753.3(ENG):c.121G>T (p.Glu41Ter)
|
|
|
NM_001114753.3(ENG):c.1238del (p.Gly413fs)
|
rs1830432717
|
|
NM_001114753.3(ENG):c.1243C>T (p.Gln415Ter)
|
rs1343053876
|
|
NM_001114753.3(ENG):c.1268del (p.Asn423fs)
|
rs1564453538
|
|
NM_001114753.3(ENG):c.1273-2A>G
|
rs373842615
|
|
NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter)
|
rs761353511
|
|
NM_001114753.3(ENG):c.1297dup (p.Ser433fs)
|
|
|
NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter)
|
|
|
NM_001114753.3(ENG):c.1311+1G>C
|
|
|
NM_001114753.3(ENG):c.1311+2T>A
|
|
|
NM_001114753.3(ENG):c.1311+2T>G
|
|
|
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
|
rs1554809448
|
|
NM_001114753.3(ENG):c.1311G>C (p.Arg437=)
|
rs1554809448
|
|
NM_001114753.3(ENG):c.1312-1G>C
|
rs2131877148
|
|
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter)
|
rs863223536
|
|
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter)
|
rs1554809361
|
|
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs)
|
rs1564453019
|
|
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)
|
rs1830395639
|
|
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter)
|
rs965119099
|
|
NM_001114753.3(ENG):c.1428+1G>A
|
rs863223542
|
|
NM_001114753.3(ENG):c.1428+2T>C
|
rs863223543
|
|
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs)
|
rs1564452747
|
|
NM_001114753.3(ENG):c.1440_1449del (p.Val483fs)
|
|
|
NM_001114753.3(ENG):c.145G>T (p.Val49Phe)
|
rs1252348200
|
|
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)
|
rs1057521648
|
|
NM_001114753.3(ENG):c.1465_1466del (p.Gln489fs)
|
|
|
NM_001114753.3(ENG):c.1470dup (p.Asp491fs)
|
rs1830385077
|
|
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
|
rs1830384910
|
|
NM_001114753.3(ENG):c.1488_1498delinsATTGGGCCTT (p.Asp496fs)
|
|
|
NM_001114753.3(ENG):c.1494del (p.Pro499fs)
|
|
|
NM_001114753.3(ENG):c.1509_1510insCCAC (p.Val504fs)
|
|
|
NM_001114753.3(ENG):c.1509del (p.Val504fs)
|
rs1564452685
|
|
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)
|
rs1830383454
|
|
NM_001114753.3(ENG):c.1541del (p.Gly514fs)
|
rs1554809268
|
|
NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs)
|
rs886041325
|
|
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)
|
rs863223538
|
|
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
|
rs148475405
|
|
NM_001114753.3(ENG):c.1613_1614del (p.Thr538fs)
|
|
|
NM_001114753.3(ENG):c.1626dup (p.Lys543fs)
|
rs1830377451
|
|
NM_001114753.3(ENG):c.1639_1645dup (p.Cys549fs)
|
|
|
NM_001114753.3(ENG):c.1657del (p.Leu553fs)
|
rs1064794218
|
|
NM_001114753.3(ENG):c.1682_1686+15del
|
|
|
NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter)
|
rs1588574749
|
|
NM_001114753.3(ENG):c.1686+1G>A
|
rs1554809228
|
|
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)
|
rs2131873923
|
|
NM_001114753.3(ENG):c.1698del (p.Thr567fs)
|
rs1830345215
|
|
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter)
|
rs863223539
|
|
NM_001114753.3(ENG):c.1A>G (p.Met1Val)
|
rs1060501418
|
|
NM_001114753.3(ENG):c.205del (p.Leu69fs)
|
|
|
NM_001114753.3(ENG):c.219+1G>A
|
rs1554812253
|
|
NM_001114753.3(ENG):c.219+5G>A
|
rs1554812252
|
|
NM_001114753.3(ENG):c.224del (p.Pro75fs)
|
rs1554810932
|
|
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter)
|
rs1588585997
|
|
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter)
|
rs763992842
|
|
NM_001114753.3(ENG):c.239del (p.Leu80fs)
|
|
|
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro)
|
rs1564466414
|
|
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter)
|
rs863223532
|
|
NM_001114753.3(ENG):c.258del (p.Lys86fs)
|
|
|
NM_001114753.3(ENG):c.263del (p.Asn88fs)
|
|
|
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)
|
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.277dup (p.Arg93fs)
|
rs1830717066
|
|
NM_001114753.3(ENG):c.2T>C (p.Met1Thr)
|
rs267606783
|
|
NM_001114753.3(ENG):c.313_314del (p.Val105fs)
|
|
|
NM_001114753.3(ENG):c.360+1G>A
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+1G>C
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+1G>T
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+2dup
|
|
|
NM_001114753.3(ENG):c.360+5G>C
|
rs1060501417
|
|
NM_001114753.3(ENG):c.361-2A>G
|
|
|
NM_001114753.3(ENG):c.361-2A>T
|
|
|
NM_001114753.3(ENG):c.391_392dup (p.Gly132fs)
|
|
|
NM_001114753.3(ENG):c.3G>T (p.Met1Ile)
|
|
|
NM_001114753.3(ENG):c.439_440insAAGC (p.Leu147fs)
|
|
|
NM_001114753.3(ENG):c.445dup (p.Trp149fs)
|
|
|
NM_001114753.3(ENG):c.446G>A (p.Trp149Ter)
|
rs863223534
|
|
NM_001114753.3(ENG):c.447G>A (p.Trp149Ter)
|
|
|
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)
|
rs878853657
|
|
NM_001114753.3(ENG):c.451_470delinsTCTGCTG (p.Ala151fs)
|
|
|
NM_001114753.3(ENG):c.457_458del (p.Arg153fs)
|
rs2131890509
|
|
NM_001114753.3(ENG):c.457_458dup (p.Pro155fs)
|
|
|
NM_001114753.3(ENG):c.457dup (p.Arg153fs)
|
|
|
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
|
rs1830620247
|
|
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)
|
rs1554810490
|
|
NM_001114753.3(ENG):c.523+1G>C
|
rs113930974
|
|
NM_001114753.3(ENG):c.523G>A (p.Ala175Thr)
|
|
|
NM_001114753.3(ENG):c.523G>C (p.Ala175Pro)
|
|
|
NM_001114753.3(ENG):c.524-1G>T
|
|
|
NM_001114753.3(ENG):c.558del (p.Ser187fs)
|
rs2131889490
|
|
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter)
|
rs863223537
|
|
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro)
|
rs2131889364
|
|
NM_001114753.3(ENG):c.581_582del (p.Leu194fs)
|
|
|
NM_001114753.3(ENG):c.582_583insCATG (p.Glu195fs)
|
|
|
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter)
|
rs1588582870
|
|
NM_001114753.3(ENG):c.595dup (p.Arg199fs)
|
|
|
NM_001114753.3(ENG):c.617del (p.Gly206fs)
|
rs1830599423
|
|
NM_001114753.3(ENG):c.619del (p.Cys207fs)
|
|
|
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter)
|
rs1243079862
|
|
NM_001114753.3(ENG):c.635_654del (p.Val212fs)
|
|
|
NM_001114753.3(ENG):c.63del (p.Thr22fs)
|
|
|
NM_001114753.3(ENG):c.640_643del (p.Gly214fs)
|
rs864622666
|
|
NM_001114753.3(ENG):c.647del (p.Lys216fs)
|
|
|
NM_001114753.3(ENG):c.67+1G>A
|
rs1554813783
|
|
NM_001114753.3(ENG):c.674del (p.Pro225fs)
|
rs1830596596
|
|
NM_001114753.3(ENG):c.674dup (p.His227fs)
|
|
|
NM_001114753.3(ENG):c.68-1G>A
|
rs878853659
|
|
NM_001114753.3(ENG):c.689+1G>T
|
|
|
NM_001114753.3(ENG):c.690-1G>A
|
rs1554810272
|
|
NM_001114753.3(ENG):c.700dup (p.Val234fs)
|
|
|
NM_001114753.3(ENG):c.701_705dup (p.Val236Ter)
|
|
|
NM_001114753.3(ENG):c.715dup (p.Glu239fs)
|
rs1554810257
|
|
NM_001114753.3(ENG):c.721_725del (p.Ser241fs)
|
rs1064794219
|
|
NM_001114753.3(ENG):c.740del (p.Leu247fs)
|
|
|
NM_001114753.3(ENG):c.743del (p.Asp248fs)
|
rs1588581961
|
|
NM_001114753.3(ENG):c.766_767delinsA (p.Pro256fs)
|
|
|
NM_001114753.3(ENG):c.767_786del (p.Pro256fs)
|
rs2131887701
|
|
NM_001114753.3(ENG):c.771del (p.Tyr258fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.771dup (p.Tyr258fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.772del (p.Tyr258fs)
|
rs1830580093
|
|
NM_001114753.3(ENG):c.776del (p.Val259fs)
|
rs1588581880
|
|
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter)
|
rs1588581785
|
|
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter)
|
rs886041326
|
|
NM_001114753.3(ENG):c.817-1G>C
|
rs1564455715
|
|
NM_001114753.3(ENG):c.822del (p.Gly275fs)
|
|
|
NM_001114753.3(ENG):c.828del (p.Glu276fs)
|
|
|
NM_001114753.3(ENG):c.841del (p.Ile281fs)
|
|
|
NM_001114753.3(ENG):c.878del (p.Pro293fs)
|
|
|
NM_001114753.3(ENG):c.895del (p.Leu299fs)
|
rs1064795636
|
|
NM_001114753.3(ENG):c.904dup (p.Glu302fs)
|
rs1554810177
|
|
NM_001114753.3(ENG):c.910del (p.Arg304fs)
|
|
|
NM_001114753.3(ENG):c.916del (p.Leu306fs)
|
|
|
NM_001114753.3(ENG):c.917_918del (p.Leu306fs)
|
|
|
NM_001114753.3(ENG):c.919_920del (p.Asn307fs)
|
|
|
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)
|
rs1482440395
|
|
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
|
|
|
NM_001114753.3(ENG):c.991+1G>C
|
|
|
NM_001114753.3(ENG):c.991+4A>G
|
rs2131886797
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)
|
rs796734066
|
|
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)
|
rs267607002
|
|
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)
|
rs267607003
|
|
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)
|
rs397516607
|
|
NM_001148.6(ANK2):c.11760_11761delinsTT (p.Gln3921Ter)
|
|
|
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter)
|
rs1588354762
|
|
NM_001148.6(ANK2):c.3281dup (p.Val1095fs)
|
|
|
NM_001159699.2(FHL1):c.288del (p.Phe96fs)
|
rs2148373432
|
|
NM_001159699.2(FHL1):c.344_345del (p.Pro115fs)
|
|
|
NM_001159699.2(FHL1):c.516dup (p.Lys173fs)
|
|
|
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
|
|
|
NM_001232.4(CASQ2):c.261dup (p.Ala88fs)
|
|
|
NM_001232.4(CASQ2):c.546del (p.Phe182fs)
|
rs763955301
|
|
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter)
|
rs1647617368
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.13127dup (p.Asp4376fs)
|
rs2082227467
|
|
NM_001267550.2(TTN):c.49648+1G>T
|
|
|
NM_001267550.2(TTN):c.51913_51916del (p.Lys17305fs)
|
rs747513278
|
|
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer)
|
rs794729323
|
|
NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs)
|
rs2055292474
|
|
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter)
|
rs571702144
|
|
NM_001267550.2(TTN):c.54112del (p.Glu18038fs)
|
rs794729325
|
|
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)
|
rs72646831
|
|
NM_001267550.2(TTN):c.58117dup (p.Cys19373fs)
|
|
|
NM_001267550.2(TTN):c.58581G>A (p.Trp19527Ter)
|
rs2154186640
|
|
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)
|
rs1553649171
|
|
NM_001267550.2(TTN):c.59436del (p.Val19813fs)
|
|
|
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)
|
rs869312112
|
|
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)
|
rs727503586
|
|
NM_001267550.2(TTN):c.66632dup (p.Asn22211fs)
|
|
|
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter)
|
rs1403485272
|
|
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)
|
rs371678190
|
|
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter)
|
rs1553612386
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs)
|
rs971618751
|
|
NM_001267550.2(TTN):c.73845del (p.Glu24615fs)
|
rs397517696
|
|
NM_001267550.2(TTN):c.78340_78349del (p.Tyr26114fs)
|
|
|
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)
|
rs869025545
|
|
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)
|
rs869038795
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
NM_001267550.2(TTN):c.82164C>G (p.Tyr27388Ter)
|
|
|
NM_001267550.2(TTN):c.82598del (p.Gly27533fs)
|
|
|
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs)
|
rs1285329277
|
|
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter)
|
rs794729384
|
|
NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter)
|
rs794729299
|
|
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)
|
rs869312081
|
|
NM_001267550.2(TTN):c.90085del (p.Glu30029fs)
|
|
|
NM_001267550.2(TTN):c.90587del (p.Lys30196fs)
|
rs397517749
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
NM_001267550.2(TTN):c.93897del (p.Phe31299fs)
|
rs397517758
|
|
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs)
|
rs769488730
|
|
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)
|
rs780414947
|
|
NM_001267550.2(TTN):c.98319T>G (p.Tyr32773Ter)
|
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
NM_001267550.2(TTN):c.99063del (p.Lys33021fs)
|
rs1445687820
|
|
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)
|
rs121964855
|
|
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)
|
rs727503513
|
|
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)
|
rs397516470
|
|
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)
|
rs727503512
|
|
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)
|
rs397516471
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001365276.2(TNXB):c.10004dup (p.Asn3335fs)
|
rs779059111
|
|
NM_001365276.2(TNXB):c.2929del (p.Leu977fs)
|
|
|
NM_001365276.2(TNXB):c.3288del (p.Gln1095_Tyr1096insTer)
|
rs1779660599
|
|
NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs)
|
rs764070148
|
|
NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs)
|
rs2127254498
|
|
NM_001365276.2(TNXB):c.4778_4779del (p.Val1593fs)
|
|
|
NM_001365276.2(TNXB):c.8516_8517del (p.Pro2839fs)
|
|
|
NM_001367624.2(ZNF469):c.2193del (p.Thr732fs)
|
|
|
NM_001367624.2(ZNF469):c.4882_4883del (p.Thr1628fs)
|
|
|
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs)
|
rs886044697
|
|
NM_001367624.2(ZNF469):c.6445C>T (p.Gln2149Ter)
|
|
|
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
|
rs121908334
|
|
NM_001371904.1(APOA5):c.42dup (p.Leu15fs)
|
|
|
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs)
|
rs2104104189
|
|
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs)
|
rs2104104427
|
|
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs)
|
rs1218465638
|
|
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter)
|
rs747747269
|
|
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)
|
rs780252175
|
|
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs)
|
rs1476205467
|
|
NM_001378454.1(ALMS1):c.11688del (p.Asn3896fs)
|
|
|
NM_001378454.1(ALMS1):c.12313C>T (p.Gln4105Ter)
|
|
|
NM_001378454.1(ALMS1):c.149del (p.Ala50fs)
|
rs2104058704
|
|
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs)
|
rs1553403262
|
|
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs)
|
rs769291842
|
|
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs)
|
rs1230351650
|
|
NM_001378454.1(ALMS1):c.2929_2930dup (p.Ser978fs)
|
|
|
NM_001378454.1(ALMS1):c.3525_3526del (p.Gly1176fs)
|
|
|
NM_001378454.1(ALMS1):c.4143C>A (p.Tyr1381Ter)
|
|
|
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)
|
rs748709116
|
|
NM_001378454.1(ALMS1):c.5198_5199del (p.Gln1733fs)
|
|
|
NM_001378454.1(ALMS1):c.5280del (p.His1761fs)
|
rs2103785835
|
|
NM_001378454.1(ALMS1):c.6165del (p.Asn2055fs)
|
|
|
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
|
rs28730854
|
|
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs)
|
rs1370417967
|
|
NM_001378454.1(ALMS1):c.8151_8152del (p.Ser2718fs)
|
|
|
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
|
|
|
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs)
|
rs1553409715
|
|
NM_001378454.1(ALMS1):c.8650del (p.Gln2884fs)
|
|
|
NM_001378454.1(ALMS1):c.8674_8678del (p.Lys2892fs)
|
|
|
NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter)
|
rs2128934390
|
|
NM_001458.5(FLNC):c.1274del (p.Glu425fs)
|
|
|
NM_001458.5(FLNC):c.1497del (p.Phe500fs)
|
|
|
NM_001458.5(FLNC):c.1749del (p.Gly584fs)
|
|
|
NM_001458.5(FLNC):c.1756del (p.Val586fs)
|
|
|
NM_001458.5(FLNC):c.1837C>T (p.Gln613Ter)
|
|
|
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter)
|
rs770606675
|
|
NM_001458.5(FLNC):c.1994_1995delinsAA (p.Cys665Ter)
|
|
|
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter)
|
rs1389742580
|
|
NM_001458.5(FLNC):c.2809C>T (p.Gln937Ter)
|
|
|
NM_001458.5(FLNC):c.3014C>A (p.Ser1005Ter)
|
|
|
NM_001458.5(FLNC):c.302_306delinsTGT (p.Ser101fs)
|
|
|
NM_001458.5(FLNC):c.3123_3126del (p.Tyr1042fs)
|
|
|
NM_001458.5(FLNC):c.338del (p.Lys113fs)
|
|
|
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs)
|
rs2128936511
|
|
NM_001458.5(FLNC):c.3855del (p.Asn1286fs)
|
|
|
NM_001458.5(FLNC):c.3901_3904del (p.Asp1301fs)
|
|
|
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs)
|
rs1554399513
|
|
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter)
|
rs766330686
|
|
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)
|
rs1562998062
|
|
NM_001458.5(FLNC):c.4059_4060del (p.Arg1354fs)
|
|
|
NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter)
|
rs138193236
|
|
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter)
|
rs1342121466
|
|
NM_001458.5(FLNC):c.4219_4220delinsA (p.Val1407fs)
|
|
|
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter)
|
rs1562999451
|
|
NM_001458.5(FLNC):c.488_491dup (p.Leu165fs)
|
|
|
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)
|
rs1402879259
|
|
NM_001458.5(FLNC):c.4946del (p.Gly1649fs)
|
rs1282619643
|
|
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)
|
rs1563000044
|
|
NM_001458.5(FLNC):c.531del (p.Ile178fs)
|
rs2128933676
|
|
NM_001458.5(FLNC):c.5417C>A (p.Ser1806Ter)
|
|
|
NM_001458.5(FLNC):c.5559T>G (p.Tyr1853Ter)
|
|
|
NM_001458.5(FLNC):c.555G>A (p.Trp185Ter)
|
rs2128933685
|
|
NM_001458.5(FLNC):c.5778C>G (p.Tyr1926Ter)
|
|
|
NM_001458.5(FLNC):c.5926C>T (p.Gln1976Ter)
|
|
|
NM_001458.5(FLNC):c.600dup (p.Gly201fs)
|
|
|
NM_001458.5(FLNC):c.6190dup (p.Val2064fs)
|
rs1808888920
|
|
NM_001458.5(FLNC):c.6279del (p.Asp2093fs)
|
|
|
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter)
|
rs748416758
|
|
NM_001458.5(FLNC):c.711del (p.Glu238fs)
|
|
|
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
|
|
|
NM_001458.5(FLNC):c.7327del (p.Arg2443fs)
|
|
|
NM_001458.5(FLNC):c.7371del (p.Glu2458fs)
|
rs1554401780
|
|
NM_001458.5(FLNC):c.7374del (p.Glu2458fs)
|
|
|
NM_001458.5(FLNC):c.778del (p.Ala260fs)
|
|
|
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter)
|
rs755583250
|
|
NM_001458.5(FLNC):c.985_986dup (p.Asn329fs)
|
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.735+3A>G
|
rs267607483
|
|
NM_001943.4(DSG2):c.1015del
|
rs794728094
|
|
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp)
|
rs752522753
|
|
NM_001943.5(DSG2):c.1487dup (p.Cys496fs)
|
rs730880347
|
|
NM_001943.5(DSG2):c.1826dup (p.Leu610fs)
|
rs1039633976
|
|
NM_001943.5(DSG2):c.1970G>A (p.Trp657Ter)
|
|
|
NM_001943.5(DSG2):c.449_450del (p.Leu150fs)
|
|
|
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)
|
rs794728091
|
|
NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer)
|
rs1555671331
|
|
NM_001943.5(DSG2):c.630del (p.Phe211fs)
|
|
|
NM_002294.3(LAMP2):c.1075C>T (p.Gln359Ter)
|
rs1057517940
|
|
NM_002294.3(LAMP2):c.109G>T (p.Glu37Ter)
|
|
|
NM_002294.3(LAMP2):c.371_375del (p.Thr124fs)
|
|
|
NM_002294.3(LAMP2):c.64+4delinsGT
|
rs1556123906
|
|
NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter)
|
rs1556101523
|
|
NM_002294.3(LAMP2):c.864+3_864+6del
|
rs397516751
|
|
NM_002294.3(LAMP2):c.911_914del (p.Tyr304fs)
|
|
|
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)
|
rs104894858
|
|
NM_002317.7(LOX):c.732_735del (p.Cys244fs)
|
rs779512296
|
|
NM_002317.7(LOX):c.841C>T (p.Arg281Ter)
|
|
|
NM_002474.3(MYH11):c.3791T>C (p.Leu1264Pro)
|
rs201831933
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)
|
rs727504317
|
|
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)
|
rs397507501
|
|
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)
|
rs121918469
|
|
NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro)
|
rs397507537
|
|
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)
|
rs397507548
|
|
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)
|
rs397507549
|
|
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)
|
rs397507550
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)
|
rs397507509
|
|
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)
|
rs397507510
|
|
NM_002834.5(PTPN11):c.181G>C (p.Asp61His)
|
rs397507510
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)
|
rs397507511
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
|
rs121918462
|
|
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)
|
rs397507514
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)
|
rs397507523
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr)
|
rs121918463
|
|
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)
|
rs121918455
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)
|
rs121434594
|
|
NM_002890.3(RASA1):c.1926dup (p.Val643fs)
|
rs2112485022
|
|
NM_002890.3(RASA1):c.1963_1967del (p.Glu655fs)
|
|
|
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter)
|
rs863223718
|
|
NM_002890.3(RASA1):c.2291dup (p.Leu765fs)
|
|
|
NM_002890.3(RASA1):c.2552dup (p.Leu852fs)
|
|
|
NM_003242.6(TGFBR2):c.1136A>T (p.Asp379Val)
|
rs886038847
|
|
NM_003242.6(TGFBR2):c.1261A>G (p.Thr421Ala)
|
rs886038787
|
|
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)
|
rs104893811
|
|
NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn)
|
rs886038794
|
|
NM_003673.4(TCAP):c.110_110+1del
|
rs786205076
|
|
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter)
|
rs1064793964
|
|
NM_004006.3(DMD):c.31+1G>C
|
rs398123923
|
|
NM_004006.3(DMD):c.31+1G>T
|
rs398123923
|
|
NM_004006.3(DMD):c.313A>T (p.Lys105Ter)
|
rs2148850223
|
|
NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter)
|
rs1569563751
|
|
NM_004006.3(DMD):c.357+1G>T
|
|
|
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)
|
rs863224999
|
|
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter)
|
rs1057520764
|
|
NM_004006.3(DMD):c.6306del (p.Val2103fs)
|
|
|
NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter)
|
rs1557038061
|
|
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)
|
rs1556930579
|
|
NM_004006.3(DMD):c.777del (p.Lys259_Val260insTer)
|
|
|
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter)
|
rs2147076500
|
|
NM_004006.3(DMD):c.859G>T (p.Glu287Ter)
|
|
|
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)
|
rs1569530432
|
|
NM_004281.4(BAG3):c.1034_1038del (p.Glu345fs)
|
rs1554877731
|
|
NM_004281.4(BAG3):c.1257del (p.Pro420fs)
|
|
|
NM_004281.4(BAG3):c.1267_1276del (p.Leu423fs)
|
rs794728981
|
|
NM_004281.4(BAG3):c.1276del (p.Glu426fs)
|
|
|
NM_004281.4(BAG3):c.1292dup (p.Val432fs)
|
rs886039182
|
|
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys)
|
rs397516881
|
|
NM_004281.4(BAG3):c.138_159del (p.Thr47fs)
|
|
|
NM_004281.4(BAG3):c.223del (p.Arg75fs)
|
|
|
NM_004281.4(BAG3):c.262C>T (p.Gln88Ter)
|
rs1554877001
|
|
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)
|
rs1057517945
|
|
NM_004281.4(BAG3):c.29_35del (p.Met10fs)
|
|
|
NM_004281.4(BAG3):c.394C>T (p.Gln132Ter)
|
|
|
NM_004281.4(BAG3):c.403C>T (p.Gln135Ter)
|
rs1847126002
|
|
NM_004281.4(BAG3):c.481C>T (p.Gln161Ter)
|
rs886039044
|
|
NM_004281.4(BAG3):c.607dup (p.Arg203fs)
|
rs1554877224
|
|
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)
|
rs121918312
|
|
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter)
|
rs876661342
|
|
NM_004281.4(BAG3):c.72dup (p.Gly25fs)
|
rs727502897
|
|
NM_004281.4(BAG3):c.764G>A (p.Trp255Ter)
|
|
|
NM_004281.4(BAG3):c.765G>A (p.Trp255Ter)
|
rs1564774668
|
|
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)
|
rs869248137
|
|
NM_004387.4(NKX2-5):c.212del (p.Ala71fs)
|
rs2113906234
|
|
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter)
|
rs1554093487
|
|
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
|
|
|
NM_004415.2:c.6060_6061insALU
|
|
|
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs)
|
rs1249913357
|
|
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter)
|
rs778856526
|
|
NM_004415.4(DSP):c.1162del (p.Thr388fs)
|
rs1554106742
|
|
NM_004415.4(DSP):c.1228_1229insT (p.Pro410fs)
|
|
|
NM_004415.4(DSP):c.1232dup (p.Gln412fs)
|
|
|
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
|
rs397516915
|
|
NM_004415.4(DSP):c.1282dup (p.Ile428fs)
|
rs1561687796
|
|
NM_004415.4(DSP):c.1587del (p.Tyr530fs)
|
|
|
NM_004415.4(DSP):c.1751del (p.Glu584fs)
|
rs727505077
|
|
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
|
rs1581805658
|
|
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter)
|
rs1554107097
|
|
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter)
|
rs876657638
|
|
NM_004415.4(DSP):c.1938C>A (p.Cys646Ter)
|
|
|
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter)
|
rs2113684096
|
|
NM_004415.4(DSP):c.250C>T (p.Arg84Ter)
|
rs768521444
|
|
NM_004415.4(DSP):c.2547T>A (p.Tyr849Ter)
|
rs1554107624
|
|
NM_004415.4(DSP):c.2593_2594dup (p.Asp865fs)
|
|
|
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
|
|
|
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter)
|
rs2113686447
|
|
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
|
|
|
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer)
|
rs1759240256
|
|
NM_004415.4(DSP):c.2709T>A (p.Tyr903Ter)
|
|
|
NM_004415.4(DSP):c.2780dup (p.Leu927fs)
|
|
|
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)
|
rs730880082
|
|
NM_004415.4(DSP):c.2842del (p.Gln948fs)
|
|
|
NM_004415.4(DSP):c.2980dup (p.Gln994fs)
|
rs1581813564
|
|
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs)
|
rs1561696970
|
|
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)
|
rs1554108012
|
|
NM_004415.4(DSP):c.313C>T (p.Arg105Ter)
|
rs1435125402
|
|
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)
|
rs886039178
|
|
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)
|
rs746877365
|
|
NM_004415.4(DSP):c.3473T>G (p.Leu1158Ter)
|
|
|
NM_004415.4(DSP):c.3474dup (p.Glu1159fs)
|
rs727503000
|
|
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
|
|
|
NM_004415.4(DSP):c.3526del (p.Val1176fs)
|
rs727505271
|
|
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter)
|
rs1759357763
|
|
NM_004415.4(DSP):c.3612del (p.Ser1204fs)
|
|
|
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter)
|
rs727503001
|
|
NM_004415.4(DSP):c.3684del (p.Glu1229fs)
|
|
|
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs)
|
rs1554108152
|
|
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter)
|
rs2113692628
|
|
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)
|
rs121912997
|
|
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
|
|
|
NM_004415.4(DSP):c.3931C>T (p.Gln1311Ter)
|
|
|
NM_004415.4(DSP):c.4009del (p.Glu1337fs)
|
rs794727381
|
|
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs)
|
rs1759385935
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004415.4(DSP):c.423-1G>T
|
rs1304410089
|
|
NM_004415.4(DSP):c.4235_4237delinsG (p.Leu1412fs)
|
rs1554108280
|
|
NM_004415.4(DSP):c.4353_4357del (p.Arg1452fs)
|
rs886039009
|
|
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)
|
rs28763965
|
|
NM_004415.4(DSP):c.4423del (p.Thr1475fs)
|
rs1227662860
|
|
NM_004415.4(DSP):c.448C>T (p.Arg150Ter)
|
rs2113659637
|
|
NM_004415.4(DSP):c.4578del (p.Asn1526fs)
|
|
|
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter)
|
rs1259613160
|
|
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)
|
rs397516943
|
|
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter)
|
rs1060500610
|
|
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)
|
rs1554108410
|
|
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter)
|
rs794728124
|
|
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs)
|
rs1394836623
|
|
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
|
|
|
NM_004415.4(DSP):c.5402_5424delinsTGA (p.Ser1801fs)
|
|
|
NM_004415.4(DSP):c.5455del (p.Ile1819fs)
|
|
|
NM_004415.4(DSP):c.5488C>T (p.Gln1830Ter)
|
|
|
NM_004415.4(DSP):c.557_558del (p.His186fs)
|
|
|
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)
|
rs774763657
|
|
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter)
|
rs1060500607
|
|
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs)
|
rs1561701401
|
|
NM_004415.4(DSP):c.5829_5832del (p.Arg1943fs)
|
|
|
NM_004415.4(DSP):c.5987del (p.Lys1996fs)
|
rs1759510200
|
|
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)
|
rs397514040
|
|
NM_004415.4(DSP):c.6170del (p.Gly2057fs)
|
|
|
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
|
|
|
NM_004415.4(DSP):c.6318del (p.Val2107fs)
|
rs2113699991
|
|
NM_004415.4(DSP):c.6336del (p.Asn2114fs)
|
|
|
NM_004415.4(DSP):c.6466dup (p.Arg2156fs)
|
rs1554108859
|
|
NM_004415.4(DSP):c.646dup (p.Gln216fs)
|
rs2113665124
|
|
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)
|
rs141026028
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
|
|
|
NM_004415.4(DSP):c.6553C>T (p.Gln2185Ter)
|
|
|
NM_004415.4(DSP):c.6631C>T (p.Gln2211Ter)
|
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
NM_004415.4(DSP):c.712dup (p.Ile238fs)
|
rs397516956
|
|
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)
|
rs1561703922
|
|
NM_004415.4(DSP):c.928dup (p.Glu310fs)
|
rs794728137
|
|
NM_004415.4(DSP):c.991C>T (p.Gln331Ter)
|
rs121912991
|
|
NM_004444.5(EPHB4):c.1236_1237insGCCTCCTTAGCCACGGGGCA (p.Ser413fs)
|
|
|
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter)
|
rs1331371272
|
|
NM_004444.5(EPHB4):c.2397del (p.Ala800fs)
|
|
|
NM_004444.5(EPHB4):c.616C>T (p.Arg206Ter)
|
|
|
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)
|
rs727503109
|
|
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)
|
rs1566967399
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser)
|
rs121908411
|
|
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg)
|
rs794727637
|
|
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala)
|
rs397517146
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)
|
rs397517150
|
|
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)
|
rs137852814
|
|
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)
|
rs397517154
|
|
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)
|
rs267607079
|
|
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)
|
rs397517159
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)
|
rs137852813
|
|
NM_005633.4(SOS1):c.806T>G (p.Met269Arg)
|
rs137852813
|
|
NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs)
|
|
|
NM_006073.4(TRDN):c.2T>C (p.Met1Thr)
|
|
|
NM_006073.4(TRDN):c.305G>A (p.Trp102Ter)
|
|
|
NM_006073.4(TRDN):c.532_533del (p.Glu178fs)
|
|
|
NM_006073.4(TRDN):c.53_56del (p.Asp18fs)
|
rs768049331
|
|
NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer)
|
|
|
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)
|
rs672601334
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
NM_014908.4(DOLK):c.2T>C (p.Met1Thr)
|
rs587777137
|
|
NM_015627.3(LDLRAP1):c.24dup (p.Arg9fs)
|
|
|
NM_015627.3(LDLRAP1):c.344+1G>A
|
rs545662810
|
|
NM_015627.3(LDLRAP1):c.604delinsCC (p.Ser202fs)
|
|
|
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg)
|
rs267606977
|
|
NM_016203.4(PRKAG2):c.1591C>G (p.Arg531Gly)
|
rs121908990
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_020778.5(ALPK3):c.1055dup (p.Pro352_Asp353insTer)
|
|
|
NM_020778.5(ALPK3):c.1072C>T (p.Gln358Ter)
|
|
|
NM_020778.5(ALPK3):c.1417del (p.Gln473fs)
|
rs769139957
|
|
NM_020778.5(ALPK3):c.1936C>T (p.Gln646Ter)
|
|
|
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer)
|
rs2141567430
|
|
NM_020778.5(ALPK3):c.2237del (p.Gly746fs)
|
rs1596155145
|
|
NM_020778.5(ALPK3):c.2434C>T (p.Gln812Ter)
|
|
|
NM_020778.5(ALPK3):c.2455C>T (p.Arg819Ter)
|
|
|
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs)
|
rs777315336
|
|
NM_020778.5(ALPK3):c.3720del (p.Ser1241fs)
|
|
|
NM_020778.5(ALPK3):c.3772C>T (p.Gln1258Ter)
|
|
|
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter)
|
rs200889953
|
|
NM_020778.5(ALPK3):c.423del
|
rs1555434555
|
|
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs)
|
rs1450218521
|
|
NM_020778.5(ALPK3):c.4688G>A (p.Trp1563Ter)
|
rs1555436118
|
|
NM_020778.5(ALPK3):c.61_62delinsT (p.Gly21fs)
|
|
|
NM_020778.5(ALPK3):c.62del (p.Gly21fs)
|
rs1250475254
|
|
NM_020778.5(ALPK3):c.634del (p.Thr212fs)
|
rs2141556375
|
|
NM_022436.3(ABCG5):c.136del (p.Ser46fs)
|
|
|
NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)
|
|
|
NM_022436.3(ABCG5):c.575del (p.Gly192fs)
|
rs762031825
|
|
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)
|
rs104894680
|
|
NM_024301.5(FKRP):c.1187dup (p.Ala397fs)
|
rs772020161
|
|
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)
|
rs1290836394
|
|
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)
|
rs765885747
|
|
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
|
rs63750743
|
|
NM_024422.6(DSC2):c.1777G>T (p.Glu593Ter)
|
|
|
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter)
|
rs1986951516
|
|
NM_024422.6(DSC2):c.2186del (p.Pro729fs)
|
rs1598572298
|
|
NM_024422.6(DSC2):c.2431G>T (p.Gly811Ter)
|
|
|
NM_024422.6(DSC2):c.2432del (p.Gly811fs)
|
|
|
NM_024422.6(DSC2):c.456_458delinsCG (p.Pro153fs)
|
|
|
NM_024422.6(DSC2):c.571_572dup (p.Asp191fs)
|
|
|
NM_024422.6(DSC2):c.587_597del (p.Tyr196fs)
|
|
|
NM_032578.4(MYPN):c.1105dup (p.Asp369fs)
|
|
|
NM_032578.4(MYPN):c.1273G>T (p.Gly425Ter)
|
rs777033025
|
|
NM_032578.4(MYPN):c.1407T>A (p.Tyr469Ter)
|
|
|
NM_032578.4(MYPN):c.1511del (p.Glu504fs)
|
|
|
NM_032578.4(MYPN):c.2709C>G (p.Tyr903Ter)
|
|
|
NM_032578.4(MYPN):c.2986C>T (p.Arg996Ter)
|
|
|
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)
|
rs116840789
|
|
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs)
|
rs1566876941
|
|
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
|
rs1595763925
|
|
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)
|
rs121434312
|
|
NM_152594.3(SPRED1):c.790delinsAA (p.Pro264fs)
|
|
|
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter)
|
rs1057518683
|
|
NM_170707.4(LMNA):c.1003del (p.Arg335fs)
|
rs1553265660
|
|
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)
|
rs267607623
|
|
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1157+1G>A
|
rs267607590
|
|
NM_170707.4(LMNA):c.1157G>C (p.Arg386Thr)
|
rs267607545
|
|
NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)
|
rs267607561
|
|
NM_170707.4(LMNA):c.1238del (p.Gly413fs)
|
rs2102890051
|
|
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)
|
rs267607618
|
|
NM_170707.4(LMNA):c.1380+1G>A
|
rs267607552
|
|
NM_170707.4(LMNA):c.1409del (p.Lys470fs)
|
|
|
NM_170707.4(LMNA):c.1526dup (p.Thr510fs)
|
rs58013325
|
|
NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter)
|
rs794728595
|
|
NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter)
|
rs149339264
|
|
NM_170707.4(LMNA):c.1576del (p.Leu526fs)
|
|
|
NM_170707.4(LMNA):c.1608+5G>C
|
rs267607539
|
|
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)
|
rs56984562
|
|
NM_170707.4(LMNA):c.1961dup (p.Thr655fs)
|
rs863225024
|
|
NM_170707.4(LMNA):c.244G>T (p.Glu82Ter)
|
|
|
NM_170707.4(LMNA):c.2T>A (p.Met1Lys)
|
|
|
NM_170707.4(LMNA):c.383dup (p.Ala129fs)
|
|
|
NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)
|
rs1558115754
|
|
NM_170707.4(LMNA):c.561dup (p.Leu188fs)
|
|
|
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)
|
rs267607571
|
|
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)
|
rs61195471
|
|
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)
|
rs267607629
|
|
NM_170707.4(LMNA):c.633C>G (p.Tyr211Ter)
|
|
|
NM_170707.4(LMNA):c.679del (p.Val227fs)
|
|
|
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)
|
rs267607573
|
|
NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs)
|
rs1572359848
|
|
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)
|
rs58327533
|
|
NM_170707.4(LMNA):c.908_909del (p.Ser303fs)
|
rs59684335
|
|
NM_170707.4(LMNA):c.913C>T (p.Gln305Ter)
|
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
NM_170707.4(LMNA):c.986dup (p.Arg329_Glu330insTer)
|
|
|
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp)
|
rs104894382
|
|