NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00042
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)
|
rs146292819
|
0.00038
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00032
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys)
|
rs1306393544
|
0.00022
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)
|
rs199472706
|
0.00011
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)
|
rs370912401
|
0.00010
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
rs201573863
|
0.00009
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)
|
rs151115064
|
0.00008
|
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro)
|
rs769576789
|
0.00008
|
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)
|
rs137852989
|
0.00008
|
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)
|
rs199473625
|
0.00007
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
rs146200173
|
0.00007
|
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu)
|
rs762770081
|
0.00007
|
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
|
rs564427867
|
0.00007
|
NM_000237.3(LPL):c.292G>A (p.Ala98Thr)
|
rs145657341
|
0.00006
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)
|
rs137852990
|
0.00006
|
NM_032588.4(TRIM63):c.224G>A (p.Cys75Tyr)
|
rs200811483
|
0.00006
|
NM_000256.3(MYBPC3):c.1224-80G>A
|
rs1025692267
|
0.00005
|
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)
|
rs727503195
|
0.00005
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)
|
rs375675796
|
0.00005
|
NM_000258.3(MYL3):c.466G>A (p.Val156Met)
|
rs199474707
|
0.00005
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00005
|
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)
|
rs199473645
|
0.00004
|
NM_000237.3(LPL):c.662T>C (p.Ile221Thr)
|
rs118204061
|
0.00004
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys)
|
rs143852164
|
0.00004
|
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)
|
rs199473283
|
0.00004
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
NM_000527.5(LDLR):c.1359-5C>G
|
rs531005522
|
0.00004
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)
|
rs727504509
|
0.00004
|
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)
|
rs564822776
|
0.00004
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
NM_022773.4(LMF1):c.1323del (p.Phe441fs)
|
rs760536168
|
0.00004
|
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)
|
rs371564200
|
0.00003
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00003
|
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)
|
rs148808089
|
0.00003
|
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)
|
rs886039030
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)
|
rs45611033
|
0.00003
|
NM_000257.4(MYH7):c.3134G>A (p.Arg1045His)
|
rs397516178
|
0.00003
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)
|
rs199473101
|
0.00003
|
NM_000335.5(SCN5A):c.393-1C>T
|
rs759235726
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)
|
rs755449669
|
0.00003
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn)
|
rs879254554
|
0.00003
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00003
|
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro)
|
rs762153545
|
0.00003
|
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)
|
rs139228801
|
0.00003
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)
|
rs587780494
|
0.00003
|
NM_001267550.2(TTN):c.89197+1G>C
|
rs1131691873
|
0.00003
|
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)
|
rs757836789
|
0.00003
|
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter)
|
rs149808404
|
0.00003
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys)
|
rs200484060
|
0.00003
|
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met)
|
rs397507536
|
0.00003
|
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu)
|
rs376607329
|
0.00003
|
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg)
|
rs376923069
|
0.00003
|
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter)
|
rs554054538
|
0.00003
|
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)
|
rs749621872
|
0.00002
|
NM_000169.3(GLA):c.868A>C (p.Met290Leu)
|
rs375538532
|
0.00002
|
NM_000229.2(LCAT):c.1267C>T (p.Arg423Cys)
|
rs370803551
|
0.00002
|
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)
|
rs770047651
|
0.00002
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)
|
rs372381770
|
0.00002
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
NM_000335.5(SCN5A):c.612-2A>G
|
rs370438420
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)
|
rs730882082
|
0.00002
|
NM_001035.3(RYR2):c.7375G>A (p.Gly2459Arg)
|
rs1481363942
|
0.00002
|
NM_001037.5(SCN1B):c.254G>A (p.Arg85His)
|
rs16969925
|
0.00002
|
NM_001134363.3(RBM20):c.1338-1G>T
|
rs1265727354
|
0.00002
|
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)
|
rs1436844070
|
0.00002
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00002
|
NM_001267550.2(TTN):c.49346-1G>A
|
rs869312070
|
0.00002
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001267550.2(TTN):c.99936G>A (p.Trp33312Ter)
|
rs1294718974
|
0.00002
|
NM_001371904.1(APOA5):c.913C>T (p.Gln305Ter)
|
rs1403296082
|
0.00002
|
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)
|
rs774263134
|
0.00002
|
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys)
|
rs778496291
|
0.00002
|
NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys)
|
rs755356387
|
0.00002
|
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs)
|
rs919111760
|
0.00002
|
NM_020778.5(ALPK3):c.4130-1G>A
|
rs762110595
|
0.00002
|
NM_022437.3(ABCG8):c.1213C>T (p.Arg405Cys)
|
rs199553576
|
0.00002
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
NC_000011.10:g.47335872C>T
|
rs398123280
|
0.00001
|
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu)
|
rs1283365095
|
0.00001
|
NM_000039.3(APOA1):c.296T>C (p.Leu99Pro)
|
rs372520221
|
0.00001
|
NM_000041.4(APOE):c.127C>T (p.Arg43Cys)
|
rs121918399
|
0.00001
|
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)
|
rs1410254723
|
0.00001
|
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)
|
rs1054264002
|
0.00001
|
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)
|
rs199472800
|
0.00001
|
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)
|
rs199472697
|
0.00001
|
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)
|
rs17215479
|
0.00001
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
NM_000237.3(LPL):c.589C>T (p.Arg197Cys)
|
rs768128481
|
0.00001
|
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)
|
rs199473428
|
0.00001
|
NM_000238.4(KCNH2):c.188C>A (p.Pro63His)
|
rs766379103
|
0.00001
|
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln)
|
rs121912512
|
0.00001
|
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)
|
rs199473538
|
0.00001
|
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)
|
rs199473432
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-2A>G
|
rs730880531
|
0.00001
|
NM_000256.3(MYBPC3):c.1A>T (p.Met1Leu)
|
rs1461764618
|
0.00001
|
NM_000256.3(MYBPC3):c.3331-2A>C
|
rs869025469
|
0.00001
|
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr)
|
rs397516053
|
0.00001
|
NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe)
|
rs397516068
|
0.00001
|
NM_000256.3(MYBPC3):c.851+2T>C
|
rs1194615408
|
0.00001
|
NM_000256.3(MYBPC3):c.905G>A (p.Arg302Lys)
|
rs1414396886
|
0.00001
|
NM_000257.4(MYH7):c.1129G>C (p.Gly377Arg)
|
rs773599095
|
0.00001
|
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile)
|
rs730880868
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn)
|
rs564101364
|
0.00001
|
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)
|
rs121913626
|
0.00001
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln)
|
rs730880748
|
0.00001
|
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)
|
rs397516157
|
0.00001
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
0.00001
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
0.00001
|
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)
|
rs397516179
|
0.00001
|
NM_000257.4(MYH7):c.343T>C (p.Tyr115His)
|
rs397516183
|
0.00001
|
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His)
|
rs397516187
|
0.00001
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)
|
rs397516207
|
0.00001
|
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)
|
rs727503278
|
0.00001
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln)
|
rs730880843
|
0.00001
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000258.3(MYL3):c.281G>A (p.Arg94His)
|
rs199474703
|
0.00001
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_000258.3(MYL3):c.446T>C (p.Met149Thr)
|
rs202141423
|
0.00001
|
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)
|
rs199473565
|
0.00001
|
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=)
|
rs1204915217
|
0.00001
|
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln)
|
rs199473584
|
0.00001
|
NM_000335.5(SCN5A):c.2614G>A (p.Asp872Asn)
|
rs763396298
|
0.00001
|
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys)
|
rs199473171
|
0.00001
|
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His)
|
rs199473172
|
0.00001
|
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val)
|
rs727503407
|
0.00001
|
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)
|
rs199473224
|
0.00001
|
NM_000335.5(SCN5A):c.4296+1G>A
|
rs2061175467
|
0.00001
|
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)
|
rs199473286
|
0.00001
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
NM_000335.5(SCN5A):c.656G>A (p.Arg219His)
|
rs878855296
|
0.00001
|
NM_000335.5(SCN5A):c.841G>A (p.Val281Met)
|
rs776363986
|
0.00001
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val)
|
rs727504285
|
0.00001
|
NM_000371.4(TTR):c.239C>T (p.Thr80Ile)
|
rs1254341785
|
0.00001
|
NM_000371.4(TTR):c.293A>T (p.Tyr98Phe)
|
rs958191819
|
0.00001
|
NM_000371.4(TTR):c.301G>A (p.Ala101Thr)
|
rs730881165
|
0.00001
|
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter)
|
rs199563828
|
0.00001
|
NM_000527.5(LDLR):c.-152C>T
|
rs879254367
|
0.00001
|
NM_000527.5(LDLR):c.1060+2T>G
|
rs774069731
|
0.00001
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
0.00001
|
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)
|
rs779732323
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro)
|
rs879254900
|
0.00001
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
rs879254913
|
0.00001
|
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
NM_000527.5(LDLR):c.1592T>A (p.Met531Lys)
|
rs779913921
|
0.00001
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser)
|
rs879255034
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser)
|
rs764550980
|
0.00001
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611
|
0.00001
|
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser)
|
rs770744861
|
0.00001
|
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)
|
rs879254439
|
0.00001
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
rs730882078
|
0.00001
|
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)
|
rs730882080
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
0.00001
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
NM_000527.5(LDLR):c.67+1G>A
|
rs762417023
|
0.00001
|
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly)
|
rs879254630
|
0.00001
|
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)
|
rs121908040
|
0.00001
|
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly)
|
rs141681167
|
0.00001
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_001005242.3(PKP2):c.1034+1G>A
|
rs869025496
|
0.00001
|
NM_001005242.3(PKP2):c.1834A>T (p.Lys612Ter)
|
rs1158333072
|
0.00001
|
NM_001005242.3(PKP2):c.2446-2A>C
|
rs1060501188
|
0.00001
|
NM_001010874.5(TECRL):c.730+1G>A
|
rs369606261
|
0.00001
|
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn)
|
rs754664923
|
0.00001
|
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)
|
rs730881151
|
0.00001
|
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr)
|
rs397516382
|
0.00001
|
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn)
|
rs1695348814
|
0.00001
|
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)
|
rs764698152
|
0.00001
|
NM_001035.3(RYR2):c.365G>A (p.Arg122His)
|
rs727503396
|
0.00001
|
NM_001035.3(RYR2):c.7550A>G (p.Asn2517Ser)
|
rs1314129285
|
0.00001
|
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)
|
rs786205830
|
0.00001
|
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)
|
rs1554761402
|
0.00001
|
NM_001079802.2(FKTN):c.1175dup (p.Tyr392Ter)
|
rs1383324318
|
0.00001
|
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser)
|
rs752358445
|
0.00001
|
NM_001114753.3(ENG):c.-10C>T
|
rs756994701
|
0.00001
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
NM_001134363.3(RBM20):c.3452G>C (p.Gly1151Ala)
|
rs1185476843
|
0.00001
|
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
|
rs869025431
|
0.00001
|
NM_001232.4(CASQ2):c.420+1G>A
|
rs368728701
|
0.00001
|
NM_001232.4(CASQ2):c.532+1G>A
|
rs1202663155
|
0.00001
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)
|
rs1260821931
|
0.00001
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)
|
rs794729305
|
0.00001
|
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter)
|
rs967542291
|
0.00001
|
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter)
|
rs727504184
|
0.00001
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter)
|
rs1057518003
|
0.00001
|
NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter)
|
rs1202115268
|
0.00001
|
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)
|
rs886043924
|
0.00001
|
NM_001267550.2(TTN):c.105805del (p.Thr35269fs)
|
rs752787097
|
0.00001
|
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs)
|
rs1394131775
|
0.00001
|
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)
|
rs1009131948
|
0.00001
|
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter)
|
rs150954246
|
0.00001
|
NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter)
|
rs794729258
|
0.00001
|
NM_001267550.2(TTN):c.43319G>A (p.Trp14440Ter)
|
rs372663057
|
0.00001
|
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)
|
rs397517580
|
0.00001
|
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter)
|
rs1060500405
|
0.00001
|
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs)
|
rs794729319
|
0.00001
|
NM_001267550.2(TTN):c.48760+1G>T
|
rs1474000709
|
0.00001
|
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)
|
rs570046043
|
0.00001
|
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter)
|
rs1471414348
|
0.00001
|
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter)
|
rs748956593
|
0.00001
|
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)
|
rs1343120755
|
0.00001
|
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)
|
rs768431507
|
0.00001
|
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter)
|
rs747236787
|
0.00001
|
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
|
rs775367836
|
0.00001
|
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)
|
rs1483931960
|
0.00001
|
NM_001267550.2(TTN):c.56401C>T (p.Gln18801Ter)
|
rs2052670569
|
0.00001
|
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer)
|
rs2052216955
|
0.00001
|
NM_001267550.2(TTN):c.57262+1G>A
|
rs1468372318
|
0.00001
|
NM_001267550.2(TTN):c.57849del (p.Val19284fs)
|
rs776385412
|
0.00001
|
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter)
|
rs768073446
|
0.00001
|
NM_001267550.2(TTN):c.58732+2T>C
|
rs869312054
|
0.00001
|
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs)
|
rs752948913
|
0.00001
|
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter)
|
rs1250461669
|
0.00001
|
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)
|
rs974671846
|
0.00001
|
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)
|
rs797044692
|
0.00001
|
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter)
|
rs869312098
|
0.00001
|
NM_001267550.2(TTN):c.6508+1G>T
|
rs1373416532
|
0.00001
|
NM_001267550.2(TTN):c.67348+1G>A
|
rs758279518
|
0.00001
|
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs)
|
rs757603460
|
0.00001
|
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter)
|
rs1561253718
|
0.00001
|
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)
|
rs545954490
|
0.00001
|
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs)
|
rs1205409465
|
0.00001
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)
|
rs1419374180
|
0.00001
|
NM_001267550.2(TTN):c.81715C>T (p.Gln27239Ter)
|
rs1408614204
|
0.00001
|
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter)
|
rs766840243
|
0.00001
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs)
|
rs794729351
|
0.00001
|
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)
|
rs886055237
|
0.00001
|
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter)
|
rs1060500525
|
0.00001
|
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter)
|
rs794729300
|
0.00001
|
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs)
|
rs1064794472
|
0.00001
|
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)
|
rs1553539391
|
0.00001
|
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)
|
rs794729301
|
0.00001
|
NM_001267550.2(TTN):c.93139C>T (p.Arg31047Ter)
|
rs1416323929
|
0.00001
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)
|
rs1322596650
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter)
|
rs781171206
|
0.00001
|
NM_001267550.2(TTN):c.97633C>T (p.Arg32545Ter)
|
rs780653613
|
0.00001
|
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter)
|
rs869312085
|
0.00001
|
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter)
|
rs553821887
|
0.00001
|
NM_001276345.2(TNNT2):c.163G>T (p.Glu55Ter)
|
rs730881120
|
0.00001
|
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)
|
rs397516455
|
0.00001
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser)
|
rs730881097
|
0.00001
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
0.00001
|
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile)
|
rs397516482
|
0.00001
|
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)
|
rs367785431
|
0.00001
|
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)
|
rs727504247
|
0.00001
|
NM_001367624.2(ZNF469):c.6297_6298del (p.Gly2100_Asp2101insTer)
|
rs764745826
|
0.00001
|
NM_001371904.1(APOA5):c.427del (p.Arg143fs)
|
rs777046568
|
0.00001
|
NM_001371904.1(APOA5):c.775A>T (p.Arg259Ter)
|
rs758216033
|
0.00001
|
NM_001371904.1(APOA5):c.888del (p.Ile296fs)
|
rs1477198098
|
0.00001
|
NM_001378454.1(ALMS1):c.12299-2A>G
|
rs759788656
|
0.00001
|
NM_001458.5(FLNC):c.5199+1G>T
|
rs1465588989
|
0.00001
|
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met)
|
rs1420394583
|
0.00001
|
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr)
|
rs373542380
|
0.00001
|
NM_001943.5(DSG2):c.523+1G>C
|
rs553299589
|
0.00001
|
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)
|
rs782058451
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)
|
rs761507504
|
0.00001
|
NM_004100.5(EYA4):c.1739-1G>A
|
rs797045088
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val)
|
rs1454748709
|
0.00001
|
NM_005502.4(ABCA1):c.4175+1G>T
|
rs375247413
|
0.00001
|
NM_005502.4(ABCA1):c.6238C>T (p.Arg2080Trp)
|
rs780321144
|
0.00001
|
NM_006073.4(TRDN):c.22G>C (p.Gly8Arg)
|
rs1350873943
|
0.00001
|
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)
|
rs869025196
|
0.00001
|
NM_014908.4(DOLK):c.857G>A (p.Trp286Ter)
|
rs766645192
|
0.00001
|
NM_014908.4(DOLK):c.991C>T (p.Gln331Ter)
|
rs761604406
|
0.00001
|
NM_015627.3(LDLRAP1):c.1A>G (p.Met1Val)
|
rs1019504966
|
0.00001
|
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter)
|
rs2072617381
|
0.00001
|
NM_022773.4(LMF1):c.862del (p.Cys288fs)
|
rs778522733
|
0.00001
|
NM_022773.4(LMF1):c.966del (p.Phe323fs)
|
rs2544498725
|
0.00001
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)
|
rs753390261
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_130468.4(CHST14):c.958C>T (p.Arg320Ter)
|
rs1555410784
|
0.00001
|
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met)
|
rs57629361
|
0.00001
|
NM_170707.4(LMNA):c.1608+5G>A
|
rs267607539
|
0.00001
|
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)
|
rs918645468
|
0.00001
|
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)
|
rs57830985
|
0.00001
|
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)
|
rs267607560
|
0.00001
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)
|
rs104894378
|
0.00001
|
NC_000002.12:g.178552644_178552645del
|
rs773840992
|
|
NC_000011.10:g.47332705G>C
|
rs730880592
|
|
NC_000011.10:g.47338688G>C
|
rs773882783
|
|
NC_000011.10:g.47351310delinsAA
|
rs1555123743
|
|
NC_000019.10:g.11089393C>T
|
rs879254364
|
|
NM_000020.3(ACVRL1):c.1012G>T (p.Val338Phe)
|
rs2540164872
|
|
NM_000020.3(ACVRL1):c.1023C>G (p.Asn341Lys)
|
rs2540164910
|
|
NM_000020.3(ACVRL1):c.1027_1047del (p.Gln343_Leu349del)
|
rs1592224385
|
|
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)
|
rs1592224412
|
|
NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser)
|
rs1565594547
|
|
NM_000020.3(ACVRL1):c.1049-1G>A
|
rs1060503242
|
|
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)
|
rs1085307415
|
|
NM_000020.3(ACVRL1):c.1111G>A (p.Gly371Ser)
|
rs2139076199
|
|
NM_000020.3(ACVRL1):c.1123T>C (p.Tyr375His)
|
rs2139076336
|
|
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
|
rs2540166475
|
|
NM_000020.3(ACVRL1):c.1133C>T (p.Pro378Leu)
|
rs1940833669
|
|
NM_000020.3(ACVRL1):c.1136A>C (p.Glu379Ala)
|
rs2540166517
|
|
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser)
|
rs121909289
|
|
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp)
|
rs2139076990
|
|
NM_000020.3(ACVRL1):c.1208T>C (p.Leu403Pro)
|
rs2540166760
|
|
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser)
|
rs1592225112
|
|
NM_000020.3(ACVRL1):c.1273T>A (p.Phe425Ile)
|
rs2540170652
|
|
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu)
|
rs191763644
|
|
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys)
|
rs771606504
|
|
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser)
|
rs2139084154
|
|
NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del)
|
rs1940907616
|
|
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)
|
rs2139084385
|
|
NM_000020.3(ACVRL1):c.1378-78T>G
|
rs1168929877
|
|
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser)
|
rs1555152454
|
|
NM_000020.3(ACVRL1):c.1398_1399del (p.Gln466fs)
|
rs2540174463
|
|
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)
|
rs774389618
|
|
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu)
|
rs1940955941
|
|
NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu)
|
rs267606632
|
|
NM_000020.3(ACVRL1):c.1451G>C (p.Arg484Pro)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.1456A>G (p.Lys486Glu)
|
rs113700354
|
|
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro)
|
rs1057523573
|
|
NM_000020.3(ACVRL1):c.154A>C (p.Thr52Pro)
|
rs1131691346
|
|
NM_000020.3(ACVRL1):c.229T>C (p.Cys77Arg)
|
rs2540158883
|
|
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg)
|
rs2540158927
|
|
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg)
|
rs1555152520
|
|
NM_000020.3(ACVRL1):c.287A>G (p.Asn96Ser)
|
rs2540159181
|
|
NM_000020.3(ACVRL1):c.313+2T>C
|
rs2540159380
|
|
NM_000020.3(ACVRL1):c.313_313+1del
|
rs2540159366
|
|
NM_000020.3(ACVRL1):c.526-1G>A
|
rs1565593274
|
|
NM_000020.3(ACVRL1):c.526-1G>C
|
rs1565593274
|
|
NM_000020.3(ACVRL1):c.526-6C>G
|
rs1438077609
|
|
NM_000020.3(ACVRL1):c.526-7C>A
|
rs772776468
|
|
NM_000020.3(ACVRL1):c.526-7C>G
|
rs772776468
|
|
NM_000020.3(ACVRL1):c.62-36_66delinsTGAAG
|
rs2540158011
|
|
NM_000020.3(ACVRL1):c.625+1G>A
|
rs1940767034
|
|
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg)
|
rs1940766958
|
|
NM_000020.3(ACVRL1):c.625G>C (p.Gly209Arg)
|
rs1940766958
|
|
NM_000020.3(ACVRL1):c.641G>T (p.Gly214Val)
|
rs2540162521
|
|
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys)
|
rs754283265
|
|
NM_000020.3(ACVRL1):c.649T>G (p.Trp217Gly)
|
rs2540162558
|
|
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)
|
rs1592223490
|
|
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)
|
rs387906393
|
|
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)
|
rs1555152966
|
|
NM_000020.3(ACVRL1):c.794_799del (p.Thr265_Arg267delinsSer)
|
rs2540164101
|
|
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro)
|
rs2540164174
|
|
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
|
rs750085854
|
|
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr)
|
rs2540164204
|
|
NM_000020.3(ACVRL1):c.839A>G (p.His280Arg)
|
rs2540164236
|
|
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe)
|
rs768643771
|
|
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe)
|
rs1085307410
|
|
NM_000020.3(ACVRL1):c.854T>C (p.Leu285Pro)
|
rs1085307411
|
|
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)
|
rs1565594217
|
|
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe)
|
rs1555153126
|
|
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu)
|
rs863223411
|
|
NM_000020.3(ACVRL1):c.926G>T (p.Gly309Val)
|
rs2540164531
|
|
NM_000020.3(ACVRL1):c.956G>A (p.Gly319Asp)
|
rs2540164646
|
|
NM_000020.3(ACVRL1):c.967A>G (p.Lys323Glu)
|
rs2540164690
|
|
NM_000020.3(ACVRL1):c.984C>G (p.His328Gln)
|
|
|
NM_000020.3(ACVRL1):c.988G>A (p.Asp330Asn)
|
rs2540164775
|
|
NM_000020.3(ACVRL1):c.988_990delinsTGG (p.Asp330Trp)
|
rs2540164781
|
|
NM_000039.3(APOA1):c.532_533del (p.Ala178fs)
|
rs781350389
|
|
NM_000088.4(COL1A1):c.1299+5G>A
|
rs193922139
|
|
NM_000088.4(COL1A1):c.3118G>C (p.Gly1040Arg)
|
|
|
NM_000088.4(COL1A1):c.3371G>A (p.Gly1124Asp)
|
rs2509170044
|
|
NM_000088.4(COL1A1):c.3559G>T (p.Gly1187Cys)
|
rs72656332
|
|
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)
|
rs1114167408
|
|
NM_000088.4(COL1A1):c.661G>A (p.Gly221Ser)
|
rs72667037
|
|
NM_000088.4(COL1A1):c.859-17_859-16delinsGTAGATCAGAAT
|
rs1555574417
|
|
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)
|
rs1114167416
|
|
NM_000089.4(COL1A2):c.3305G>C (p.Gly1102Ala)
|
rs68063264
|
|
NM_000089.4(COL1A2):c.587G>A (p.Gly196Asp)
|
rs2484702812
|
|
NM_000090.4(COL3A1):c.1347+1G>C
|
|
|
NM_000090.4(COL3A1):c.1871G>T (p.Gly624Val)
|
rs1553508463
|
|
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)
|
rs587779704
|
|
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser)
|
rs886038892
|
|
NM_000117.3(EMD):c.82G>A (p.Gly28Arg)
|
rs1064797380
|
|
NM_000138.5(FBN1):c.1876G>A (p.Gly626Arg)
|
rs794728177
|
|
NM_000138.5(FBN1):c.202T>A (p.Cys68Ser)
|
rs113604459
|
|
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr)
|
rs794728187
|
|
NM_000138.5(FBN1):c.2241del (p.Lys747fs)
|
|
|
NM_000138.5(FBN1):c.2294-1G>T
|
rs1064793914
|
|
NM_000138.5(FBN1):c.2728+2T>C
|
rs886038898
|
|
NM_000138.5(FBN1):c.2740T>G (p.Cys914Gly)
|
rs1555398994
|
|
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)
|
rs886038877
|
|
NM_000138.5(FBN1):c.3777_3778delinsC (p.Glu1260fs)
|
|
|
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=)
|
rs140648
|
|
NM_000138.5(FBN1):c.4460-9_4468delinsA
|
|
|
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)
|
rs886038848
|
|
NM_000138.5(FBN1):c.5672-1G>C
|
rs1555395849
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His)
|
rs886038943
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000169.3(GLA):c.1077_1086del (p.Gly360fs)
|
rs2520852645
|
|
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)
|
rs730880441
|
|
NM_000169.3(GLA):c.1117G>C (p.Gly373Arg)
|
|
|
NM_000169.3(GLA):c.167G>T (p.Cys56Phe)
|
rs869312258
|
|
NM_000169.3(GLA):c.1A>G (p.Met1Val)
|
rs869312265
|
|
NM_000169.3(GLA):c.254G>A (p.Gly85Asp)
|
rs1569304898
|
|
NM_000169.3(GLA):c.335G>T (p.Arg112Leu)
|
rs372966991
|
|
NM_000169.3(GLA):c.439G>A (p.Gly147Arg)
|
rs1555985830
|
|
NM_000169.3(GLA):c.444T>G (p.Ser148Arg)
|
rs1569304190
|
|
NM_000169.3(GLA):c.47T>C (p.Leu16Pro)
|
rs869312310
|
|
NM_000169.3(GLA):c.512G>A (p.Gly171Asp)
|
rs2520895216
|
|
NM_000169.3(GLA):c.540G>T (p.Leu180Phe)
|
rs869312145
|
|
NM_000169.3(GLA):c.613C>A (p.Pro205Thr)
|
rs397515870
|
|
NM_000169.3(GLA):c.667T>C (p.Cys223Arg)
|
rs869312381
|
|
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr)
|
rs869312382
|
|
NM_000169.3(GLA):c.695T>C (p.Ile232Thr)
|
rs797044749
|
|
NM_000169.3(GLA):c.704C>G (p.Ser235Cys)
|
rs797044746
|
|
NM_000169.3(GLA):c.712A>T (p.Ser238Cys)
|
|
|
NM_000169.3(GLA):c.713G>A (p.Ser238Asn)
|
rs730880450
|
|
NM_000169.3(GLA):c.802-2A>T
|
rs797044499
|
|
NM_000169.3(GLA):c.811G>T (p.Gly271Cys)
|
|
|
NM_000169.3(GLA):c.812G>T (p.Gly271Val)
|
rs869312429
|
|
NM_000169.3(GLA):c.828C>A (p.Ser276Arg)
|
rs1555985010
|
|
NM_000169.3(GLA):c.962A>G (p.Gln321Arg)
|
rs1928161905
|
|
NM_000214.3(JAG1):c.886+3A>G
|
rs1555829065
|
|
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe)
|
rs199472760
|
|
NM_000218.3(KCNQ1):c.1025T>A (p.Leu342His)
|
rs794728522
|
|
NM_000218.3(KCNQ1):c.1027C>T (p.Pro343Ser)
|
rs199472762
|
|
NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu)
|
rs199472763
|
|
NM_000218.3(KCNQ1):c.1039C>T (p.Leu347Phe)
|
|
|
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp)
|
rs199472765
|
|
NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1111G>A (p.Ala371Thr)
|
rs199473412
|
|
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser)
|
rs199472771
|
|
NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs)
|
rs1848613169
|
|
NM_000218.3(KCNQ1):c.1394-2A>G
|
rs2133855926
|
|
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg)
|
rs199473479
|
|
NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser)
|
rs199472789
|
|
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr)
|
rs120074188
|
|
NM_000218.3(KCNQ1):c.1602del (p.Lys534fs)
|
|
|
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln)
|
rs199472794
|
|
NM_000218.3(KCNQ1):c.1685+1G>A
|
rs794728531
|
|
NM_000218.3(KCNQ1):c.1686-2A>G
|
rs878854350
|
|
NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser)
|
rs794728535
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala)
|
rs199472806
|
|
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro)
|
rs199472815
|
|
NM_000218.3(KCNQ1):c.1794+2T>C
|
rs2494146135
|
|
NM_000218.3(KCNQ1):c.1795-2A>G
|
rs867564993
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro)
|
rs199473448
|
|
NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly)
|
rs199472679
|
|
NM_000218.3(KCNQ1):c.478G>A (p.Glu160Lys)
|
rs199473453
|
|
NM_000218.3(KCNQ1):c.521G>C (p.Arg174Pro)
|
rs199472697
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser)
|
rs199473397
|
|
NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys)
|
rs199473398
|
|
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)
|
rs120074178
|
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
|
NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val)
|
rs199472707
|
|
NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu)
|
rs199472709
|
|
NM_000218.3(KCNQ1):c.716T>C (p.Leu239Pro)
|
rs199473458
|
|
NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu)
|
rs1589957756
|
|
NM_000218.3(KCNQ1):c.760G>T (p.Val254Leu)
|
rs120074179
|
|
NM_000218.3(KCNQ1):c.773A>G (p.His258Arg)
|
rs199472718
|
|
NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu)
|
rs199472720
|
|
NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys)
|
rs199472722
|
|
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys)
|
rs199472734
|
|
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu)
|
rs1001293702
|
|
NM_000218.3(KCNQ1):c.902A>T (p.Asp301Val)
|
rs1554893260
|
|
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu)
|
rs193922365
|
|
NM_000218.3(KCNQ1):c.921+1G>T
|
rs397508130
|
|
NM_000218.3(KCNQ1):c.921G>A (p.Val307=)
|
rs397508131
|
|
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile)
|
rs120074182
|
|
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser)
|
rs199472753
|
|
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)
|
rs199472754
|
|
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg)
|
rs199472755
|
|
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)
|
rs199473362
|
|
NM_000237.3(LPL):c.1139+1G>A
|
rs767260655
|
|
NM_000237.3(LPL):c.1187A>T (p.Glu396Val)
|
rs886037775
|
|
NM_000237.3(LPL):c.1322+1G>C
|
rs2128839625
|
|
NM_000237.3(LPL):c.242G>A (p.Gly81Asp)
|
rs762007406
|
|
NM_000237.3(LPL):c.989T>C (p.Leu330Pro)
|
|
|
NM_000238.3:c.(2692+1_2693-1)_(3330+1_3331-1)del
|
|
|
NM_000238.4(KCNH2):c.1128+1G>C
|
rs1405113457
|
|
NM_000238.4(KCNH2):c.1236G>A (p.Trp412Ter)
|
|
|
NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser)
|
rs199472897
|
|
NM_000238.4(KCNH2):c.1342G>A (p.Ala448Thr)
|
rs767723985
|
|
NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile)
|
rs199472906
|
|
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr)
|
rs28928905
|
|
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg)
|
rs794728370
|
|
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn)
|
rs199472912
|
|
NM_000238.4(KCNH2):c.1520C>T (p.Pro507Leu)
|
rs794728372
|
|
NM_000238.4(KCNH2):c.1557+1G>C
|
rs886039043
|
|
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg)
|
rs199472842
|
|
NM_000238.4(KCNH2):c.157G>T (p.Gly53Cys)
|
rs199472842
|
|
NM_000238.4(KCNH2):c.1592G>A (p.Arg531Gln)
|
rs199473515
|
|
NM_000238.4(KCNH2):c.160T>C (p.Tyr54His)
|
rs199472843
|
|
NM_000238.4(KCNH2):c.164C>T (p.Ser55Leu)
|
rs199472844
|
|
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr)
|
rs794728481
|
|
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg)
|
rs199472922
|
|
NM_000238.4(KCNH2):c.1693G>C (p.Ala565Pro)
|
rs199473518
|
|
NM_000238.4(KCNH2):c.1711A>G (p.Ile571Val)
|
rs199472928
|
|
NM_000238.4(KCNH2):c.1764C>A (p.Asn588Lys)
|
rs104894021
|
|
NM_000238.4(KCNH2):c.1764C>G (p.Asn588Lys)
|
rs104894021
|
|
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala)
|
rs199472951
|
|
NM_000238.4(KCNH2):c.1882G>C (p.Gly628Arg)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.1894C>G (p.Pro632Ala)
|
rs199473527
|
|
NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser)
|
rs199473527
|
|
NM_000238.4(KCNH2):c.1904A>T (p.Asn635Ile)
|
rs199472964
|
|
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del)
|
rs794728442
|
|
NM_000238.4(KCNH2):c.1911G>C (p.Glu637Asp)
|
rs199472966
|
|
NM_000238.4(KCNH2):c.1945+1G>C
|
rs794728487
|
|
NM_000238.4(KCNH2):c.2013_2145+77del
|
rs2486029577
|
|
NM_000238.4(KCNH2):c.209A>G (p.His70Arg)
|
rs199473419
|
|
NM_000238.4(KCNH2):c.212G>A (p.Gly71Glu)
|
rs886039183
|
|
NM_000238.4(KCNH2):c.2145+1G>A
|
rs886039385
|
|
NM_000238.4(KCNH2):c.2146-1G>C
|
rs2116950992
|
|
NM_000238.4(KCNH2):c.215C>T (p.Pro72Leu)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.2312A>G (p.His771Arg)
|
rs1060500659
|
|
NM_000238.4(KCNH2):c.2367C>G (p.Ile789Met)
|
|
|
NM_000238.4(KCNH2):c.2398+5G>T
|
rs1554425149
|
|
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys)
|
rs199472999
|
|
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)
|
rs199473004
|
|
NM_000238.4(KCNH2):c.2536C>T (p.Pro846Ser)
|
rs199473006
|
|
NM_000238.4(KCNH2):c.2766del (p.Pro923fs)
|
rs1554424403
|
|
NM_000238.4(KCNH2):c.2785G>T (p.Glu929Ter)
|
|
|
NM_000238.4(KCNH2):c.298C>T (p.Arg100Trp)
|
rs121912515
|
|
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro)
|
rs886039064
|
|
NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs)
|
rs1554423346
|
|
NM_000238.4(KCNH2):c.67G>A (p.Glu23Lys)
|
|
|
NM_000238.4(KCNH2):c.76+1dup
|
rs2117072537
|
|
NM_000238.4(KCNH2):c.832_916+11del
|
rs2486087544
|
|
NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu)
|
rs199472830
|
|
NM_000238.4(KCNH2):c.917-1G>T
|
rs2486083513
|
|
NM_000238.4(KCNH2):c.94G>C (p.Ala32Pro)
|
|
|
NM_000256.3(MYBPC3):c.107del (p.Ala36fs)
|
rs2495786486
|
|
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)
|
rs794727046
|
|
NM_000256.3(MYBPC3):c.111del (p.Gly37_Val38insTer)
|
|
|
NM_000256.3(MYBPC3):c.112_115del (p.Val38fs)
|
rs2142869736
|
|
NM_000256.3(MYBPC3):c.1224-2A>G
|
rs397515891
|
|
NM_000256.3(MYBPC3):c.1227-39_1263del
|
rs2495764295
|
|
NM_000256.3(MYBPC3):c.133G>T (p.Gly45Ter)
|
|
|
NM_000256.3(MYBPC3):c.1351+2T>C
|
rs397515897
|
|
NM_000256.3(MYBPC3):c.1352-2A>G
|
|
|
NM_000256.3(MYBPC3):c.1457+2T>G
|
rs112999777
|
|
NM_000256.3(MYBPC3):c.1457+2del
|
|
|
NM_000256.3(MYBPC3):c.1457+5G>T
|
rs727503202
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1504C>G (p.Arg502Gly)
|
rs375882485
|
|
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)
|
rs727504287
|
|
NM_000256.3(MYBPC3):c.1536del (p.Ile513fs)
|
|
|
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.1624+1G>T
|
rs1252584025
|
|
NM_000256.3(MYBPC3):c.1790+1G>A
|
rs1555122053
|
|
NM_000256.3(MYBPC3):c.1897+1G>A
|
rs397515935
|
|
NM_000256.3(MYBPC3):c.2060_2063delinsGA (p.Ile687fs)
|
|
|
NM_000256.3(MYBPC3):c.2148+1G>T
|
rs1060499604
|
|
NM_000256.3(MYBPC3):c.2163dup (p.Glu722fs)
|
|
|
NM_000256.3(MYBPC3):c.2291_2308+3del
|
rs2095884867
|
|
NM_000256.3(MYBPC3):c.2413+1G>A
|
rs1595843828
|
|
NM_000256.3(MYBPC3):c.2413+2T>A
|
rs2495750255
|
|
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)
|
rs375675796
|
|
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)
|
rs727504288
|
|
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)
|
rs775404728
|
|
NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del)
|
rs397515972
|
|
NM_000256.3(MYBPC3):c.252_262del (p.Ser85fs)
|
rs2095900581
|
|
NM_000256.3(MYBPC3):c.2602+2T>G
|
rs1555121145
|
|
NM_000256.3(MYBPC3):c.2737+2_2737+3del
|
rs1265248322
|
|
NM_000256.3(MYBPC3):c.2738-2A>G
|
rs1595842632
|
|
NM_000256.3(MYBPC3):c.2825del (p.Phe942fs)
|
rs1265547595
|
|
NM_000256.3(MYBPC3):c.2993A>C (p.Gln998Pro)
|
rs727503177
|
|
NM_000256.3(MYBPC3):c.2994+1del
|
rs2095879886
|
|
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile)
|
rs397516002
|
|
NM_000256.3(MYBPC3):c.3190+5G>C
|
rs587782958
|
|
NM_000256.3(MYBPC3):c.3227_3233del (p.Asp1076fs)
|
rs2495740224
|
|
NM_000256.3(MYBPC3):c.3330+1G>T
|
rs1298025872
|
|
NM_000256.3(MYBPC3):c.3330+5G>T
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000256.3(MYBPC3):c.3482_3490+3delinsTCATTCTT
|
|
|
NM_000256.3(MYBPC3):c.3491-2A>C
|
rs397516022
|
|
NM_000256.3(MYBPC3):c.3593_3627+20del
|
rs2495737667
|
|
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro)
|
rs730880702
|
|
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del)
|
rs397516040
|
|
NM_000256.3(MYBPC3):c.3774dup (p.Gln1259fs)
|
|
|
NM_000256.3(MYBPC3):c.3782_3792delinsCCTG (p.Glu1261fs)
|
rs1085307897
|
|
NM_000256.3(MYBPC3):c.3787del (p.Arg1263fs)
|
rs2495736043
|
|
NM_000256.3(MYBPC3):c.3815-1G>A
|
rs397516044
|
|
NM_000256.3(MYBPC3):c.505+5G>T
|
|
|
NM_000256.3(MYBPC3):c.565del (p.Val189fs)
|
rs2142867765
|
|
NM_000256.3(MYBPC3):c.654+5G>A
|
rs397516066
|
|
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)
|
rs730880624
|
|
NM_000256.3(MYBPC3):c.710A>G (p.Tyr237Cys)
|
rs397516070
|
|
NM_000256.3(MYBPC3):c.821+2dup
|
rs2495775259
|
|
NM_000256.3(MYBPC3):c.821+3G>T
|
rs727503213
|
|
NM_000256.3(MYBPC3):c.927-10C>A
|
rs201078659
|
|
NM_000256.3:c.(1927+1_1928-1)_(2602+1_2603-1)del
|
|
|
NM_000257.4(MYH7):c.1012G>A (p.Val338Met)
|
rs727503271
|
|
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu)
|
rs730880864
|
|
NM_000257.4(MYH7):c.1132A>C (p.Thr378Pro)
|
rs397516090
|
|
NM_000257.4(MYH7):c.1219G>T (p.Gly407Cys)
|
rs1566535368
|
|
NM_000257.4(MYH7):c.1220G>T (p.Gly407Val)
|
rs397516095
|
|
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val)
|
rs727503266
|
|
NM_000257.4(MYH7):c.1318G>A (p.Val440Met)
|
rs397516098
|
|
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala)
|
rs1244840759
|
|
NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu)
|
rs397516101
|
|
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)
|
rs727504236
|
|
NM_000257.4(MYH7):c.1477A>G (p.Met493Val)
|
rs730880875
|
|
NM_000257.4(MYH7):c.1549C>A (p.Leu517Met)
|
rs727504237
|
|
NM_000257.4(MYH7):c.1618T>C (p.Phe540Leu)
|
rs1060501443
|
|
NM_000257.4(MYH7):c.1748C>T (p.Ala583Val)
|
rs2138672244
|
|
NM_000257.4(MYH7):c.1750G>T (p.Gly584Cys)
|
rs121913626
|
|
NM_000257.4(MYH7):c.1751G>A (p.Gly584Asp)
|
rs1595085409
|
|
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser)
|
rs730880880
|
|
NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys)
|
rs727504925
|
|
NM_000257.4(MYH7):c.1871A>G (p.Tyr624Cys)
|
rs727504291
|
|
NM_000257.4(MYH7):c.1970A>C (p.Lys657Thr)
|
|
|
NM_000257.4(MYH7):c.1977G>A (p.Met659Ile)
|
rs1241603111
|
|
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)
|
rs397516127
|
|
NM_000257.4(MYH7):c.2012G>A (p.Arg671His)
|
rs730880883
|
|
NM_000257.4(MYH7):c.2104A>G (p.Ile702Val)
|
rs863225101
|
|
NM_000257.4(MYH7):c.2129C>A (p.Pro710His)
|
rs727504272
|
|
NM_000257.4(MYH7):c.2345G>A (p.Ser782Asn)
|
rs886039185
|
|
NM_000257.4(MYH7):c.2386C>T (p.Leu796Phe)
|
rs1222361739
|
|
NM_000257.4(MYH7):c.2419C>T (p.Arg807Cys)
|
rs2138666871
|
|
NM_000257.4(MYH7):c.2459C>A (p.Ala820Asp)
|
rs730880741
|
|
NM_000257.4(MYH7):c.2464A>G (p.Met822Val)
|
rs730880742
|
|
NM_000257.4(MYH7):c.2536G>A (p.Glu846Lys)
|
rs730880748
|
|
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)
|
rs397516155
|
|
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly)
|
rs727504311
|
|
NM_000257.4(MYH7):c.2546T>C (p.Met849Thr)
|
rs397516156
|
|
NM_000257.4(MYH7):c.2573G>C (p.Arg858Pro)
|
rs2856897
|
|
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)
|
rs730880749
|
|
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)
|
rs727504356
|
|
NM_000257.4(MYH7):c.2618T>C (p.Leu873Pro)
|
rs1555337701
|
|
NM_000257.4(MYH7):c.2631G>A (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del)
|
rs193922387
|
|
NM_000257.4(MYH7):c.2699A>T (p.Asp900Val)
|
rs397516163
|
|
NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys)
|
rs730880756
|
|
NM_000257.4(MYH7):c.2711G>C (p.Arg904Pro)
|
rs397516165
|
|
NM_000257.4(MYH7):c.2738T>C (p.Ile913Thr)
|
rs1360649783
|
|
NM_000257.4(MYH7):c.2738T>G (p.Ile913Ser)
|
rs1360649783
|
|
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys)
|
rs730880759
|
|
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn)
|
rs727503252
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn)
|
rs886039204
|
|
NM_000257.4(MYH7):c.2886del (p.Val964fs)
|
rs886038901
|
|
NM_000257.4(MYH7):c.323G>A (p.Arg108His)
|
rs730880832
|
|
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys)
|
rs727504274
|
|
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp)
|
rs730880910
|
|
NM_000257.4(MYH7):c.427C>G (p.Arg143Gly)
|
rs727503278
|
|
NM_000257.4(MYH7):c.438G>C (p.Lys146Asn)
|
rs397516212
|
|
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys)
|
rs876657884
|
|
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)
|
rs45544633
|
|
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)
|
rs121913648
|
|
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)
|
rs121913650
|
|
NM_000257.4(MYH7):c.596C>A (p.Ala199Glu)
|
|
|
NM_000257.4(MYH7):c.596C>T (p.Ala199Val)
|
rs727504283
|
|
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)
|
rs397516260
|
|
NM_000257.4(MYH7):c.646C>G (p.Leu216Val)
|
rs772488436
|
|
NM_000257.4(MYH7):c.652G>T (p.Asp218Tyr)
|
rs1595089520
|
|
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr)
|
rs1057517773
|
|
NM_000257.4(MYH7):c.677C>T (p.Ala226Val)
|
rs876657887
|
|
NM_000257.4(MYH7):c.728G>A (p.Arg243His)
|
rs267606910
|
|
NM_000257.4(MYH7):c.732+1G>A
|
rs730880850
|
|
NM_000257.4(MYH7):c.739T>C (p.Phe247Leu)
|
rs727503276
|
|
NM_000257.4(MYH7):c.741C>A (p.Phe247Leu)
|
rs1566537070
|
|
NM_000257.4(MYH7):c.746G>T (p.Arg249Leu)
|
rs3218713
|
|
NM_000257.4(MYH7):c.815G>C (p.Arg272Thr)
|
rs1555338578
|
|
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr)
|
rs730880856
|
|
NM_000257.4(MYH7):c.895+1G>A
|
rs111547156
|
|
NM_000258.3(MYL3):c.445A>G (p.Met149Val)
|
rs104893748
|
|
NM_000335.5(SCN5A):c.1046A>G (p.Asp349Gly)
|
|
|
NM_000335.5(SCN5A):c.1051_1058dup (p.Ser354fs)
|
rs2471767329
|
|
NM_000335.5(SCN5A):c.2023+1G>A
|
rs1553703211
|
|
NM_000335.5(SCN5A):c.2437-1G>C
|
rs2471678625
|
|
NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys)
|
rs199473168
|
|
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu)
|
rs199473175
|
|
NM_000335.5(SCN5A):c.2788-2del
|
rs2471660795
|
|
NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter)
|
rs1553699747
|
|
NM_000335.5(SCN5A):c.3509-1G>C
|
rs1553698563
|
|
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp)
|
rs199473556
|
|
NM_000335.5(SCN5A):c.362G>A (p.Arg121Gln)
|
rs199473058
|
|
NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys)
|
rs199473204
|
|
NM_000335.5(SCN5A):c.3822C>A (p.Asp1274Glu)
|
|
|
NM_000335.5(SCN5A):c.3914G>T (p.Arg1305Leu)
|
rs730880207
|
|
NM_000335.5(SCN5A):c.3960+1G>A
|
rs483353016
|
|
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser)
|
rs28937317
|
|
NM_000335.5(SCN5A):c.4027T>C (p.Phe1343Leu)
|
rs199473228
|
|
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del)
|
rs794728922
|
|
NM_000335.5(SCN5A):c.4242+1G>T
|
rs794728879
|
|
NM_000335.5(SCN5A):c.4243-2del
|
rs794728943
|
|
NM_000335.5(SCN5A):c.4296+1G>T
|
rs2061175467
|
|
NM_000335.5(SCN5A):c.4296+1del
|
rs1450434935
|
|
NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln)
|
rs199473249
|
|
NM_000335.5(SCN5A):c.4490T>C (p.Met1497Thr)
|
rs199473263
|
|
NM_000335.5(SCN5A):c.4504T>C (p.Ser1502Pro)
|
rs199473342
|
|
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)
|
rs754221948
|
|
NM_000335.5(SCN5A):c.4717G>A (p.Glu1573Lys)
|
rs199473620
|
|
NM_000335.5(SCN5A):c.482+1G>C
|
rs2471848000
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
NM_000335.5(SCN5A):c.4892G>T (p.Arg1631Leu)
|
rs199473286
|
|
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile)
|
rs199473293
|
|
NM_000335.5(SCN5A):c.5250del (p.Phe1751fs)
|
|
|
NM_000335.5(SCN5A):c.5263ATC[2] (p.Ile1757del)
|
rs1575705549
|
|
NM_000335.5(SCN5A):c.5283C>G (p.Ile1761Met)
|
rs375323548
|
|
NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer)
|
rs1559720870
|
|
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs)
|
rs1060501127
|
|
NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs)
|
rs1553692660
|
|
NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs)
|
rs794728924
|
|
NM_000335.5(SCN5A):c.5466del (p.Glu1822fs)
|
|
|
NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter)
|
rs2062567690
|
|
NM_000335.5(SCN5A):c.998+1G>T
|
rs1167495153
|
|
NM_000335.5(SCN5A):c.999-1G>A
|
rs2125906068
|
|
NM_000363.5(TNNI3):c.204del (p.Arg69fs)
|
rs727504872
|
|
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)
|
rs730881069
|
|
NM_000363.5(TNNI3):c.414G>C (p.Lys138Asn)
|
|
|
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)
|
rs397516353
|
|
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro)
|
rs397516354
|
|
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)
|
rs727503503
|
|
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del)
|
rs397516351
|
|
NM_000363.5(TNNI3):c.595A>T (p.Ser199Cys)
|
rs2085696801
|
|
NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn)
|
rs730881091
|
|
NM_000371.4(TTR):c.116C>A (p.Ala39Asp)
|
rs11541795
|
|
NM_000371.4(TTR):c.128G>A (p.Ser43Asn)
|
rs1598844112
|
|
NM_000371.4(TTR):c.133G>T (p.Ala45Ser)
|
rs104894664
|
|
NM_000371.4(TTR):c.155T>C (p.Val52Ala)
|
rs2073493951
|
|
NM_000371.4(TTR):c.172G>C (p.Asp58His)
|
rs2073494217
|
|
NM_000371.4(TTR):c.179C>A (p.Thr60Asn)
|
rs113625622
|
|
NM_000371.4(TTR):c.191T>C (p.Phe64Ser)
|
rs104894665
|
|
NM_000371.4(TTR):c.194C>T (p.Ala65Val)
|
rs730881169
|
|
NM_000371.4(TTR):c.220G>C (p.Glu74Gln)
|
rs1555631393
|
|
NM_000371.4(TTR):c.220_221delinsCT (p.Glu74Leu)
|
rs730881168
|
|
NM_000371.4(TTR):c.220_221inv (p.Glu74Ser)
|
|
|
NM_000371.4(TTR):c.241G>A (p.Glu81Lys)
|
rs121918086
|
|
NM_000371.4(TTR):c.242A>C (p.Glu81Ala)
|
rs1567946170
|
|
NM_000371.4(TTR):c.242A>G (p.Glu81Gly)
|
rs1567946170
|
|
NM_000371.4(TTR):c.244G>A (p.Glu82Lys)
|
rs1555631402
|
|
NM_000371.4(TTR):c.265T>C (p.Tyr89His)
|
rs121918100
|
|
NM_000371.4(TTR):c.302C>T (p.Ala101Val)
|
rs1555631417
|
|
NM_000371.4(TTR):c.311T>C (p.Ile104Thr)
|
rs121918072
|
|
NM_000371.4(TTR):c.326A>T (p.Glu109Val)
|
rs2073511444
|
|
NM_000371.4(TTR):c.381T>G (p.Ile127Met)
|
rs751430411
|
|
NM_000371.4(TTR):c.391C>A (p.Leu131Met)
|
rs121918073
|
|
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)
|
rs876658108
|
|
NM_000384.3(APOB):c.149G>A (p.Arg50Gln)
|
rs1465696669
|
|
NM_000384.3(APOB):c.237+1G>A
|
|
|
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys)
|
rs727503299
|
|
NM_000432.4(MYL2):c.497A>T (p.Asp166Val)
|
rs199474815
|
|
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu)
|
rs104894370
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
NM_000527.4:c.2462_2463insALU
|
|
|
NM_000527.5(LDLR):c.-135C>G
|
rs879254375
|
|
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val)
|
rs869320650
|
|
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
|
rs879254756
|
|
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu)
|
rs879254758
|
|
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp)
|
rs879254760
|
|
NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser)
|
rs879254769
|
|
NM_000527.5(LDLR):c.1061A>C (p.Asp354Ala)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr)
|
rs767767730
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
NM_000527.5(LDLR):c.1072T>G (p.Cys358Gly)
|
rs879254783
|
|
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr)
|
rs875989915
|
|
NM_000527.5(LDLR):c.1090T>G (p.Cys364Gly)
|
rs879254787
|
|
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr)
|
rs879254788
|
|
NM_000527.5(LDLR):c.1108A>T (p.Asn370Tyr)
|
|
|
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr)
|
rs879254792
|
|
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val)
|
rs752951310
|
|
NM_000527.5(LDLR):c.1174T>A (p.Cys392Ser)
|
rs879254814
|
|
NM_000527.5(LDLR):c.1177A>G (p.Lys393Glu)
|
rs1060499921
|
|
NM_000527.5(LDLR):c.1208T>C (p.Phe403Ser)
|
rs2516003230
|
|
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val)
|
rs879254838
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
rs869320651
|
|
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys)
|
rs368708058
|
|
NM_000527.5(LDLR):c.1299_1304del (p.Asp433_Thr434del)
|
rs2516004003
|
|
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro)
|
rs1555805237
|
|
NM_000527.5(LDLR):c.1304_1307delinsTGGC (p.Glu435_Val436delinsValAla)
|
rs2516004084
|
|
NM_000527.5(LDLR):c.1307T>A (p.Val436Glu)
|
rs779732323
|
|
NM_000527.5(LDLR):c.1322T>G (p.Ile441Ser)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His)
|
rs879254863
|
|
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys)
|
rs879254864
|
|
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT
|
rs879254876
|
|
NM_000527.5(LDLR):c.1432G>T (p.Gly478Trp)
|
rs144614838
|
|
NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys)
|
rs879254915
|
|
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu)
|
rs755667663
|
|
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu)
|
rs879254931
|
|
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu)
|
rs28942080
|
|
NM_000527.5(LDLR):c.1577C>A (p.Pro526His)
|
rs879254944
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
NM_000527.5(LDLR):c.1587-3C>G
|
rs2512412601
|
|
NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg)
|
rs1344561983
|
|
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)
|
rs746959386
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
rs777188764
|
|
NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro)
|
rs1249568272
|
|
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe)
|
rs934496989
|
|
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg)
|
rs763147599
|
|
NM_000527.5(LDLR):c.1775G>T (p.Gly592Val)
|
rs137929307
|
|
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser)
|
rs879255025
|
|
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro)
|
rs875989932
|
|
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu)
|
rs879255035
|
|
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe)
|
rs879255038
|
|
NM_000527.5(LDLR):c.1833G>T (p.Leu611Phe)
|
rs879255041
|
|
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly)
|
rs1057519677
|
|
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711
|
|
NM_000527.5(LDLR):c.1880C>T (p.Ala627Val)
|
rs875989934
|
|
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr)
|
rs879254427
|
|
NM_000527.5(LDLR):c.190+5G>A
|
rs1131692190
|
|
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584
|
|
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936
|
|
NM_000527.5(LDLR):c.1987+2T>G
|
rs1600742966
|
|
NM_000527.5(LDLR):c.1988-2A>G
|
rs879255101
|
|
NM_000527.5(LDLR):c.2000G>T (p.Cys667Phe)
|
rs28942083
|
|
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)
|
rs745753810
|
|
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr)
|
rs201637900
|
|
NM_000527.5(LDLR):c.2054C>G (p.Pro685Arg)
|
rs28942084
|
|
NM_000527.5(LDLR):c.2086T>A (p.Cys696Ser)
|
rs1555807435
|
|
NM_000527.5(LDLR):c.2086T>G (p.Cys696Gly)
|
rs1555807435
|
|
NM_000527.5(LDLR):c.2087G>T (p.Cys696Phe)
|
rs879255134
|
|
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val)
|
rs879255143
|
|
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)
|
rs875989890
|
|
NM_000527.5(LDLR):c.2312-2A>C
|
rs2077660035
|
|
NM_000527.5(LDLR):c.2389+1G>A
|
rs879255186
|
|
NM_000527.5(LDLR):c.2389G>C (p.Val797Leu)
|
rs750518671
|
|
NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg)
|
rs879255196
|
|
NM_000527.5(LDLR):c.2412G>A (p.Leu804=)
|
rs2077686564
|
|
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr)
|
rs879254448
|
|
NM_000527.5(LDLR):c.246C>G (p.Cys82Trp)
|
rs875989891
|
|
NM_000527.5(LDLR):c.2473_2475del (p.Asn825del)
|
rs2512461322
|
|
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr)
|
rs879255217
|
|
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del)
|
rs879254451
|
|
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
|
rs879254386
|
|
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)
|
rs879254459
|
|
NM_000527.5(LDLR):c.302A>C (p.Glu101Ala)
|
rs2077233012
|
|
NM_000527.5(LDLR):c.302A>G (p.Glu101Gly)
|
rs2077233012
|
|
NM_000527.5(LDLR):c.313+4_313+16del
|
rs1555802822
|
|
NM_000527.5(LDLR):c.313+5G>A
|
rs879254467
|
|
NM_000527.5(LDLR):c.313+6T>G
|
rs879254468
|
|
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)
|
rs121908042
|
|
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg)
|
rs879254492
|
|
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)
|
rs193922571
|
|
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)
|
rs879254524
|
|
NM_000527.5(LDLR):c.463T>C (p.Cys155Arg)
|
rs879254535
|
|
NM_000527.5(LDLR):c.464G>T (p.Cys155Phe)
|
rs879254536
|
|
NM_000527.5(LDLR):c.479G>C (p.Cys160Ser)
|
rs879254541
|
|
NM_000527.5(LDLR):c.479G>T (p.Cys160Phe)
|
rs879254541
|
|
NM_000527.5(LDLR):c.515A>C (p.Asp172Ala)
|
rs879254555
|
|
NM_000527.5(LDLR):c.515A>G (p.Asp172Gly)
|
rs879254555
|
|
NM_000527.5(LDLR):c.516C>G (p.Asp172Glu)
|
rs879254557
|
|
NM_000527.5(LDLR):c.530C>G (p.Ser177Trp)
|
rs121908026
|
|
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly)
|
rs875989902
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.611G>T (p.Cys204Phe)
|
rs879254592
|
|
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)
|
rs879254597
|
|
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg)
|
rs879254610
|
|
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr)
|
rs879254611
|
|
NM_000527.5(LDLR):c.665_679dup (p.Ser226_Asp227insGlyLysAspLysSer)
|
rs2515968704
|
|
NM_000527.5(LDLR):c.670G>C (p.Asp224His)
|
rs387906303
|
|
NM_000527.5(LDLR):c.677C>T (p.Ser226Phe)
|
rs879254636
|
|
NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del)
|
rs1064792905
|
|
NM_000527.5(LDLR):c.781T>A (p.Cys261Ser)
|
rs1372739823
|
|
NM_000527.5(LDLR):c.797A>G (p.Asp266Gly)
|
rs879254678
|
|
NM_000527.5(LDLR):c.79T>C (p.Cys27Arg)
|
rs1555802245
|
|
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr)
|
rs730882089
|
|
NM_000527.5(LDLR):c.851G>A (p.Cys284Tyr)
|
rs879254694
|
|
NM_000527.5(LDLR):c.851G>T (p.Cys284Phe)
|
rs879254694
|
|
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg)
|
rs879254697
|
|
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)
|
rs879254707
|
|
NM_000527.5(LDLR):c.888C>G (p.Cys296Trp)
|
rs879254708
|
|
NM_000527.5(LDLR):c.910G>C (p.Asp304His)
|
rs121908030
|
|
NM_000527.5(LDLR):c.937T>G (p.Cys313Gly)
|
rs879254728
|
|
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp)
|
rs13306512
|
|
NM_000527.5(LDLR):c.940+2T>A
|
rs875989912
|
|
NM_000527.5(LDLR):c.941-12G>A
|
rs879254734
|
|
NM_000527.5(LDLR):c.941-2A>C
|
rs112366278
|
|
NM_000527.5(LDLR):c.953G>A (p.Cys318Tyr)
|
rs879254739
|
|
NM_000527.5(LDLR):c.974G>C (p.Cys325Ser)
|
rs879254746
|
|
NM_000527.5(LDLR):c.974G>T (p.Cys325Phe)
|
rs879254746
|
|
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp)
|
rs1467561684
|
|
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del)
|
rs786205771
|
|
NM_000719.7(CACNA1C):c.2567G>A (p.Gly856Asp)
|
|
|
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)
|
rs786205753
|
|
NM_000719.7(CACNA1C):c.2578C>G (p.Arg860Gly)
|
rs758786846
|
|
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu)
|
rs786205759
|
|
NM_000719.7(CACNA1C):c.971G>A (p.Arg324Gln)
|
rs2099740070
|
|
NM_000891.3(KCNJ2):c.155G>T (p.Gly52Val)
|
rs1555603894
|
|
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)
|
rs104894585
|
|
NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile)
|
rs2509921093
|
|
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)
|
rs1555603994
|
|
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)
|
rs199473389
|
|
NM_001005242.3(PKP2):c.1034+1G>C
|
rs869025496
|
|
NM_001005242.3(PKP2):c.1746T>G (p.Tyr582Ter)
|
|
|
NM_001005242.3(PKP2):c.2167+1G>A
|
rs794729116
|
|
NM_001005242.3(PKP2):c.2167+1G>T
|
rs794729116
|
|
NM_001005242.3(PKP2):c.224-1639_274del
|
|
|
NM_001005242.3(PKP2):c.2287dup (p.Tyr763fs)
|
|
|
NM_001005242.3(PKP2):c.2385del (p.Ala796fs)
|
rs2541184876
|
|
NM_001005242.3(PKP2):c.626del (p.Ser209fs)
|
|
|
NM_001010874.5(TECRL):c.435+1_435+97del
|
|
|
NM_001010874.5(TECRL):c.436-2A>G
|
rs2476098889
|
|
NM_001010874.5(TECRL):c.658-2A>G
|
|
|
NM_001010874.5(TECRL):c.809TGT[1] (p.Leu271del)
|
rs764174354
|
|
NM_001010874.5(TECRL):c.833-1G>C
|
rs763631876
|
|
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys)
|
rs104894505
|
|
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln)
|
rs199476305
|
|
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)
|
rs104894504
|
|
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val)
|
rs397516369
|
|
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr)
|
rs727503517
|
|
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val)
|
rs1555408679
|
|
NM_001018005.2(TPM1):c.461T>C (p.Ile154Thr)
|
|
|
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr)
|
rs199476312
|
|
NM_001018005.2(TPM1):c.533G>A (p.Arg178His)
|
rs397516375
|
|
NM_001018005.2(TPM1):c.560A>T (p.Glu187Val)
|
rs786204411
|
|
NM_001018005.2(TPM1):c.615G>T (p.Lys205Asn)
|
|
|
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val)
|
rs397516387
|
|
NM_001035.2:c.(1708+1_1709-1)_(14904_?)del
|
|
|
NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly)
|
rs1553453324
|
|
NM_001035.3(RYR2):c.1153G>A (p.Gly385Arg)
|
rs1553453398
|
|
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile)
|
rs1060500137
|
|
NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp)
|
rs374306538
|
|
NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe)
|
rs794728785
|
|
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)
|
rs730880196
|
|
NM_001035.3(RYR2):c.12344T>G (p.Leu4115Arg)
|
rs2527781764
|
|
NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala)
|
rs2527783445
|
|
NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys)
|
rs1234449785
|
|
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)
|
rs794728787
|
|
NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln)
|
rs397516508
|
|
NM_001035.3(RYR2):c.1372G>A (p.Asp458Asn)
|
rs1553458124
|
|
NM_001035.3(RYR2):c.14147A>G (p.Asp4716Gly)
|
|
|
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln)
|
rs794728802
|
|
NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe)
|
rs794728804
|
|
NM_001035.3(RYR2):c.14528G>T (p.Arg4843Leu)
|
|
|
NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly)
|
rs1663930286
|
|
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)
|
rs794728811
|
|
NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys)
|
rs794728722
|
|
NM_001035.3(RYR2):c.230C>T (p.Ala77Val)
|
rs1060500142
|
|
NM_001035.3(RYR2):c.505C>G (p.Arg169Gly)
|
rs749930577
|
|
NM_001035.3(RYR2):c.506G>T (p.Arg169Leu)
|
rs397516539
|
|
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)
|
rs794728740
|
|
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu)
|
rs794728708
|
|
NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr)
|
rs1372052481
|
|
NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg)
|
rs1553263907
|
|
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr)
|
rs794728753
|
|
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)
|
rs794728754
|
|
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)
|
rs794728756
|
|
NM_001035.3(RYR2):c.7400C>T (p.Ala2467Val)
|
|
|
NM_001077653.2(TBX20):c.130C>T (p.Gln44Ter)
|
rs2546997554
|
|
NM_001077653.2(TBX20):c.139G>T (p.Glu47Ter)
|
rs2546997545
|
|
NM_001077653.2(TBX20):c.205G>T (p.Gly69Ter)
|
rs1790276091
|
|
NM_001077653.2(TBX20):c.418dup (p.Val140fs)
|
rs1562567739
|
|
NM_001077653.2(TBX20):c.697dup (p.Ile233fs)
|
rs2128714664
|
|
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter)
|
rs1203741361
|
|
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
|
rs1588315166
|
|
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr)
|
rs727502886
|
|
NM_001103.4(ACTN2):c.683T>C (p.Met228Thr)
|
rs786205144
|
|
NM_001110556.2(FLNA):c.4776del (p.Lys1593fs)
|
|
|
NM_001114753.3(ENG):c.1109T>C (p.Leu370Pro)
|
rs1830547696
|
|
NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu)
|
rs2539070821
|
|
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)
|
rs2131885751
|
|
NM_001114753.3(ENG):c.1134+1G>T
|
rs112809381
|
|
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr)
|
rs1131691931
|
|
NM_001114753.3(ENG):c.1146C>G (p.Cys382Trp)
|
rs2539064456
|
|
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
|
rs1830433526
|
|
NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr)
|
rs1554809513
|
|
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)
|
rs1830431553
|
|
NM_001114753.3(ENG):c.1310G>C (p.Arg437Pro)
|
rs989537576
|
|
NM_001114753.3(ENG):c.1312-2A>G
|
rs2539061224
|
|
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)
|
rs1554809363
|
|
NM_001114753.3(ENG):c.1429-2del
|
rs2539059977
|
|
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser)
|
rs763475207
|
|
NM_001114753.3(ENG):c.1517T>C (p.Leu506Pro)
|
rs778594104
|
|
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro)
|
rs2131875808
|
|
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)
|
rs1564462765
|
|
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
|
rs2539107399
|
|
NM_001114753.3(ENG):c.1686+1G>C
|
rs1554809228
|
|
NM_001114753.3(ENG):c.1687-1G>A
|
rs1554809106
|
|
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs)
|
rs2539056673
|
|
NM_001114753.3(ENG):c.219+2T>C
|
rs2131918332
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.360+4A>G
|
rs1564457752
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
NM_001114753.3(ENG):c.503TCC[2] (p.Leu170del)
|
rs1830619692
|
|
NM_001114753.3(ENG):c.506T>C (p.Leu169Pro)
|
rs2539077645
|
|
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro)
|
rs756980265
|
|
NM_001114753.3(ENG):c.523+1G>A
|
rs113930974
|
|
NM_001114753.3(ENG):c.523+5G>C
|
rs2539077593
|
|
NM_001114753.3(ENG):c.545G>A (p.Cys182Tyr)
|
rs1370852588
|
|
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
|
rs1830602163
|
|
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg)
|
rs2131889336
|
|
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)
|
rs751778614
|
|
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg)
|
rs2131889169
|
|
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)
|
rs1588582695
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
NM_001114753.3(ENG):c.67+2T>C
|
rs2131936480
|
|
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del)
|
rs2131888057
|
|
NM_001114753.3(ENG):c.787_789del (p.Ile263del)
|
rs1830579035
|
|
NM_001114753.3(ENG):c.816+5G>C
|
rs2539073850
|
|
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
|
rs2539073270
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001114753.3(ENG):c.917T>C (p.Leu306Pro)
|
rs2539072930
|
|
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
|
rs2539107650
|
|
NM_001127464.2(ZNF469):c.7554del (p.Ser2519Alafs)
|
rs886039575
|
|
NM_001134363.2:c.(1800+1_1801-1)_(3451+1_3452-1)del
|
|
|
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu)
|
rs267607001
|
|
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly)
|
rs267607005
|
|
NM_001134363.3(RBM20):c.39del (p.Ser14fs)
|
|
|
NM_001159699.2(FHL1):c.146_155del (p.Asp49fs)
|
|
|
NM_001232.4(CASQ2):c.235-2A>G
|
rs1060502164
|
|
NM_001232.4(CASQ2):c.319+2T>G
|
rs2526031776
|
|
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)
|
rs775663612
|
|
NM_001232.4(CASQ2):c.533-2A>G
|
|
|
NM_001232.4(CASQ2):c.606+1G>T
|
|
|
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
|
rs2464840483
|
|
NM_001232.4(CASQ2):c.939+5G>C
|
rs746128346
|
|
NM_001267550.1(TTN):c.106531+2T>A
|
rs878854373
|
|
NM_001267550.2(TTN):c.100433G>A (p.Trp33478Ter)
|
|
|
NM_001267550.2(TTN):c.100693_100696dup (p.Thr33566fs)
|
|
|
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter)
|
rs1553501227
|
|
NM_001267550.2(TTN):c.100742dup (p.Thr33582fs)
|
rs2468602856
|
|
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)
|
rs1057518195
|
|
NM_001267550.2(TTN):c.101056_101060delinsATGA (p.Val33686fs)
|
|
|
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs)
|
rs794729367
|
|
NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter)
|
rs2468576682
|
|
NM_001267550.2(TTN):c.10131G>A (p.Trp3377Ter)
|
rs2531939450
|
|
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter)
|
rs943777958
|
|
NM_001267550.2(TTN):c.101789del (p.Leu33930fs)
|
rs1575285509
|
|
NM_001267550.2(TTN):c.101884C>T (p.Gln33962Ter)
|
|
|
NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter)
|
rs534613934
|
|
NM_001267550.2(TTN):c.101992_101993del (p.Met33998fs)
|
rs1690631284
|
|
NM_001267550.2(TTN):c.101997G>A (p.Trp33999Ter)
|
rs764821435
|
|
NM_001267550.2(TTN):c.102057del (p.Asn34020fs)
|
rs1690605753
|
|
NM_001267550.2(TTN):c.102096_102097del (p.Thr34033fs)
|
|
|
NM_001267550.2(TTN):c.10219del (p.Tyr3407fs)
|
rs2531935860
|
|
NM_001267550.2(TTN):c.102234_102235del (p.Arg34079fs)
|
rs2468533193
|
|
NM_001267550.2(TTN):c.102234_102237del (p.Arg34079fs)
|
rs754731686
|
|
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter)
|
rs1212204584
|
|
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)
|
rs752697861
|
|
NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter)
|
rs1690344942
|
|
NM_001267550.2(TTN):c.102766del (p.Arg34256fs)
|
rs2468510942
|
|
NM_001267550.2(TTN):c.102842dup (p.Thr34282fs)
|
rs2468507391
|
|
NM_001267550.2(TTN):c.102876_102877delinsAT (p.Tyr34292_Lys34293delinsTer)
|
rs2468505868
|
|
NM_001267550.2(TTN):c.103117_103124del (p.Glu34373fs)
|
rs2468495794
|
|
NM_001267550.2(TTN):c.103184_103185dup (p.Trp34396fs)
|
|
|
NM_001267550.2(TTN):c.103303del (p.Arg34435fs)
|
rs2468488044
|
|
NM_001267550.2(TTN):c.103322_103323dup (p.Ala34442fs)
|
rs2468486894
|
|
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)
|
rs1553490574
|
|
NM_001267550.2(TTN):c.103730del (p.Gln34577fs)
|
rs2468469410
|
|
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs)
|
rs1689777278
|
|
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter)
|
rs2154134580
|
|
NM_001267550.2(TTN):c.103846_103849dup (p.Pro34617fs)
|
rs2154134575
|
|
NM_001267550.2(TTN):c.104069del (p.Gly34690fs)
|
rs2154134397
|
|
NM_001267550.2(TTN):c.104087del (p.Pro34696fs)
|
rs1553489404
|
|
NM_001267550.2(TTN):c.104170_104174del (p.Lys34724fs)
|
rs2154134297
|
|
NM_001267550.2(TTN):c.104197dup (p.Ile34733fs)
|
rs2468451119
|
|
NM_001267550.2(TTN):c.104265C>G (p.Tyr34755Ter)
|
rs756003817
|
|
NM_001267550.2(TTN):c.104393del (p.Lys34798fs)
|
rs2468441688
|
|
NM_001267550.2(TTN):c.104418_104419del (p.Glu34808fs)
|
rs1181631215
|
|
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter)
|
rs1553488049
|
|
NM_001267550.2(TTN):c.104573del (p.Ile34858fs)
|
rs1689352168
|
|
NM_001267550.2(TTN):c.104753T>A (p.Leu34918Ter)
|
rs2468426201
|
|
NM_001267550.2(TTN):c.104924G>A (p.Trp34975Ter)
|
rs1181086213
|
|
NM_001267550.2(TTN):c.104941G>T (p.Glu34981Ter)
|
rs2468418880
|
|
NM_001267550.2(TTN):c.105057_105059del (p.Tyr35019_Lys35020delinsTer)
|
|
|
NM_001267550.2(TTN):c.105161del (p.Pro35054fs)
|
rs1689079381
|
|
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)
|
rs770878165
|
|
NM_001267550.2(TTN):c.105613_105614del (p.Asn35205fs)
|
rs2154133153
|
|
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)
|
rs1688812000
|
|
NM_001267550.2(TTN):c.105795del (p.Thr35267fs)
|
|
|
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
|
rs2468365185
|
|
NM_001267550.2(TTN):c.106368_106374+6delinsACAAA
|
|
|
NM_001267550.2(TTN):c.106531+1G>A
|
rs760915007
|
|
NM_001267550.2(TTN):c.106836_106837del (p.Ser35613fs)
|
rs2468304792
|
|
NM_001267550.2(TTN):c.107589del (p.Phe35863fs)
|
|
|
NM_001267550.2(TTN):c.1076_1080del (p.Met359fs)
|
rs2534089825
|
|
NM_001267550.2(TTN):c.1118_1121del (p.Glu373fs)
|
rs2534087552
|
|
NM_001267550.2(TTN):c.1129G>T (p.Glu377Ter)
|
rs1012350596
|
|
NM_001267550.2(TTN):c.11311+1G>T
|
rs1553963537
|
|
NM_001267550.2(TTN):c.11722A>T (p.Lys3908Ter)
|
rs2530723915
|
|
NM_001267550.2(TTN):c.11831T>A (p.Leu3944Ter)
|
rs2530718128
|
|
NM_001267550.2(TTN):c.12217del (p.Thr4073fs)
|
|
|
NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter)
|
rs1574087037
|
|
NM_001267550.2(TTN):c.12316C>T (p.Gln4106Ter)
|
rs1553940122
|
|
NM_001267550.2(TTN):c.12405del (p.Asn4135fs)
|
rs727503658
|
|
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs)
|
rs869312038
|
|
NM_001267550.2(TTN):c.12742C>T (p.Gln4248Ter)
|
rs794729308
|
|
NM_001267550.2(TTN):c.13102_13105del (p.Lys4368fs)
|
rs1553937967
|
|
NM_001267550.2(TTN):c.13168G>T (p.Glu4390Ter)
|
|
|
NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter)
|
rs2530637215
|
|
NM_001267550.2(TTN):c.13181_13182del (p.Asn4394fs)
|
rs2530636896
|
|
NM_001267550.2(TTN):c.13192C>T (p.Gln4398Ter)
|
rs868502763
|
|
NM_001267550.2(TTN):c.13340C>A (p.Ser4447Ter)
|
rs777547090
|
|
NM_001267550.2(TTN):c.13380del (p.Asp4461fs)
|
rs2530626511
|
|
NM_001267550.2(TTN):c.133_137delinsC (p.Val45fs)
|
|
|
NM_001267550.2(TTN):c.13525del (p.Ser4509fs)
|
rs1553936898
|
|
NM_001267550.2(TTN):c.13697_13701del (p.Gln4566fs)
|
rs2530609590
|
|
NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter)
|
rs755338726
|
|
NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)
|
rs2530607571
|
|
NM_001267550.2(TTN):c.13880_13881del (p.Thr4627fs)
|
rs2530600313
|
|
NM_001267550.2(TTN):c.13937C>G (p.Ser4646Ter)
|
rs2530597033
|
|
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter)
|
rs1313233245
|
|
NM_001267550.2(TTN):c.13943_13947dup (p.Phe4650fs)
|
rs767038068
|
|
NM_001267550.2(TTN):c.14050G>T (p.Gly4684Ter)
|
|
|
NM_001267550.2(TTN):c.14245C>T (p.Arg4749Ter)
|
rs1553934752
|
|
NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter)
|
rs1217230000
|
|
NM_001267550.2(TTN):c.2089A>T (p.Lys697Ter)
|
rs1554023044
|
|
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)
|
rs727505277
|
|
NM_001267550.2(TTN):c.229C>T (p.Arg77Ter)
|
rs1347415564
|
|
NM_001267550.2(TTN):c.2393_2394del (p.Thr798fs)
|
rs1060500528
|
|
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs)
|
rs2093000714
|
|
NM_001267550.2(TTN):c.2670C>A (p.Tyr890Ter)
|
|
|
NM_001267550.2(TTN):c.27067C>T (p.Gln9023Ter)
|
|
|
NM_001267550.2(TTN):c.3007dup (p.Arg1003fs)
|
rs1574771625
|
|
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)
|
rs397517547
|
|
NM_001267550.2(TTN):c.3217C>T (p.Gln1073Ter)
|
rs2092857726
|
|
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs)
|
rs2092847994
|
|
NM_001267550.2(TTN):c.35044G>T (p.Glu11682Ter)
|
|
|
NM_001267550.2(TTN):c.3850del (p.Ser1284fs)
|
|
|
NM_001267550.2(TTN):c.3939del (p.Met1314fs)
|
rs2533093966
|
|
NM_001267550.2(TTN):c.3976A>T (p.Lys1326Ter)
|
|
|
NM_001267550.2(TTN):c.4008del (p.Arg1336fs)
|
rs2533076634
|
|
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter)
|
rs727503697
|
|
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter)
|
rs974323028
|
|
NM_001267550.2(TTN):c.40516G>T (p.Glu13506Ter)
|
|
|
NM_001267550.2(TTN):c.40537del (p.Glu13513fs)
|
rs1553756349
|
|
NM_001267550.2(TTN):c.40626dup (p.Pro13543fs)
|
rs1553754743
|
|
NM_001267550.2(TTN):c.41120_41123del (p.Glu13707fs)
|
rs2060470205
|
|
NM_001267550.2(TTN):c.41202del (p.Phe13734fs)
|
rs2471632050
|
|
NM_001267550.2(TTN):c.41222_41223del (p.Arg13741fs)
|
rs1436937190
|
|
NM_001267550.2(TTN):c.41367dup (p.Val13790fs)
|
rs2471619850
|
|
NM_001267550.2(TTN):c.41432del (p.Val13811fs)
|
rs2060408539
|
|
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)
|
rs869312043
|
|
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)
|
rs876657664
|
|
NM_001267550.2(TTN):c.41578del (p.Leu13860fs)
|
|
|
NM_001267550.2(TTN):c.41581G>T (p.Glu13861Ter)
|
rs2154230108
|
|
NM_001267550.2(TTN):c.41595C>A (p.Cys13865Ter)
|
rs1336274191
|
|
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter)
|
rs794729380
|
|
NM_001267550.2(TTN):c.41986C>T (p.Gln13996Ter)
|
|
|
NM_001267550.2(TTN):c.42154del (p.Ile14052fs)
|
rs2471553789
|
|
NM_001267550.2(TTN):c.42463G>T (p.Glu14155Ter)
|
|
|
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)
|
rs797046064
|
|
NM_001267550.2(TTN):c.42507_42508delinsT (p.Lys14169fs)
|
rs2471527080
|
|
NM_001267550.2(TTN):c.4257dup (p.Ala1420fs)
|
rs2532976979
|
|
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs)
|
rs1553742630
|
|
NM_001267550.2(TTN):c.42614_42635delinsCCTTCAGGGGCACAGCAAAGTCAAGG (p.Leu14205fs)
|
rs2471523624
|
|
NM_001267550.2(TTN):c.42639dup (p.Gln14214fs)
|
rs2060106818
|
|
NM_001267550.2(TTN):c.42728dup (p.Glu14244fs)
|
rs2471515346
|
|
NM_001267550.2(TTN):c.42786del (p.Trp14262fs)
|
rs2471513686
|
|
NM_001267550.2(TTN):c.42807_42819dup (p.Lys14274fs)
|
rs2471512595
|
|
NM_001267550.2(TTN):c.42822del (p.Lys14274fs)
|
rs2060064534
|
|
NM_001267550.2(TTN):c.43122del (p.Ile14374_Leu14375insTer)
|
rs1203006457
|
|
NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter)
|
rs754568652
|
|
NM_001267550.2(TTN):c.4330G>T (p.Glu1444Ter)
|
rs2532971329
|
|
NM_001267550.2(TTN):c.43538del (p.Ser14513fs)
|
rs2471459148
|
|
NM_001267550.2(TTN):c.43595del (p.Asn14532fs)
|
|
|
NM_001267550.2(TTN):c.43816C>T (p.Gln14606Ter)
|
rs2471418730
|
|
NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter)
|
rs1463883512
|
|
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter)
|
rs776970935
|
|
NM_001267550.2(TTN):c.44046_44047del (p.His14682fs)
|
rs2471404660
|
|
NM_001267550.2(TTN):c.44067_44068del (p.Glu14690fs)
|
rs2471403950
|
|
NM_001267550.2(TTN):c.44143del (p.Leu14715fs)
|
rs2471401478
|
|
NM_001267550.2(TTN):c.44149del (p.Thr14717fs)
|
rs2471401192
|
|
NM_001267550.2(TTN):c.44170_44173del (p.Glu14724fs)
|
rs2471378577
|
|
NM_001267550.2(TTN):c.44204dup (p.Asn14735fs)
|
|
|
NM_001267550.2(TTN):c.44281+1G>A
|
rs771562210
|
|
NM_001267550.2(TTN):c.44335dup (p.Glu14779fs)
|
rs2059495906
|
|
NM_001267550.2(TTN):c.44378del (p.Pro14793fs)
|
rs1064796121
|
|
NM_001267550.2(TTN):c.44548+2T>G
|
|
|
NM_001267550.2(TTN):c.44684del (p.Ser14895fs)
|
rs930220089
|
|
NM_001267550.2(TTN):c.44831del (p.Phe14944fs)
|
rs2471101614
|
|
NM_001267550.2(TTN):c.44840del (p.Pro14947fs)
|
rs2471101226
|
|
NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter)
|
rs2058478213
|
|
NM_001267550.2(TTN):c.45009T>A (p.Cys15003Ter)
|
rs2058350211
|
|
NM_001267550.2(TTN):c.45100dup (p.Thr15034fs)
|
rs2154212181
|
|
NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter)
|
rs1060500487
|
|
NM_001267550.2(TTN):c.45283G>T (p.Glu15095Ter)
|
rs2154212024
|
|
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs)
|
rs794729390
|
|
NM_001267550.2(TTN):c.45407del (p.Lys15136fs)
|
|
|
NM_001267550.2(TTN):c.45433_45445delinsGG (p.Lys15145fs)
|
rs2471039916
|
|
NM_001267550.2(TTN):c.45547_45551del (p.Leu15183fs)
|
rs2471035397
|
|
NM_001267550.2(TTN):c.45616G>T (p.Glu15206Ter)
|
rs796314079
|
|
NM_001267550.2(TTN):c.45617-1G>C
|
rs2471025366
|
|
NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs)
|
rs1559873786
|
|
NM_001267550.2(TTN):c.45802_45803del (p.Asp15268fs)
|
rs2471019114
|
|
NM_001267550.2(TTN):c.45823_45848del (p.Ala15275fs)
|
rs2471017401
|
|
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs)
|
rs1131691910
|
|
NM_001267550.2(TTN):c.46337_46338del (p.Arg15446fs)
|
rs2470985498
|
|
NM_001267550.2(TTN):c.46344dup (p.Ile15449fs)
|
rs2470985275
|
|
NM_001267550.2(TTN):c.46374_46375dup (p.Glu15459fs)
|
rs2154210696
|
|
NM_001267550.2(TTN):c.46421_46422del (p.Phe15474fs)
|
rs2470982805
|
|
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)
|
rs765316175
|
|
NM_001267550.2(TTN):c.46514_46517dup (p.Asp15506fs)
|
rs2470974058
|
|
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter)
|
rs764654357
|
|
NM_001267550.2(TTN):c.46668_46671del (p.Glu15557fs)
|
rs2470968919
|
|
NM_001267550.2(TTN):c.47125_47126del (p.Asp15709fs)
|
rs2470897479
|
|
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter)
|
rs1554008881
|
|
NM_001267550.2(TTN):c.47187_47188del (p.Phe15730fs)
|
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.47486_47498del (p.Glu15828_Tyr15829insTer)
|
rs2470875483
|
|
NM_001267550.2(TTN):c.47487_47488del (p.Tyr15829_Ser15830delinsTer)
|
rs1447249014
|
|
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter)
|
rs775186117
|
|
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)
|
rs373040154
|
|
NM_001267550.2(TTN):c.47779G>T (p.Gly15927Ter)
|
rs2057501802
|
|
NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter)
|
rs2057499255
|
|
NM_001267550.2(TTN):c.47885dup (p.Met15963fs)
|
rs2057454001
|
|
NM_001267550.2(TTN):c.48119del (p.Arg16040fs)
|
rs2470818301
|
|
NM_001267550.2(TTN):c.48142del (p.Ile16048fs)
|
rs2470817715
|
|
NM_001267550.2(TTN):c.48248_48251del (p.Gly16083fs)
|
rs2470805048
|
|
NM_001267550.2(TTN):c.48264del (p.Gly16089fs)
|
rs2154208052
|
|
NM_001267550.2(TTN):c.48286G>T (p.Glu16096Ter)
|
rs2470803770
|
|
NM_001267550.2(TTN):c.48334del (p.Asp16111_Leu16112insTer)
|
rs2470763679
|
|
NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter)
|
rs1312425985
|
|
NM_001267550.2(TTN):c.48502del (p.Thr16168fs)
|
rs2470739291
|
|
NM_001267550.2(TTN):c.48629del (p.Ala16210fs)
|
rs2057135958
|
|
NM_001267550.2(TTN):c.48638+2T>G
|
rs2470730854
|
|
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)
|
rs2470693959
|
|
NM_001267550.2(TTN):c.48813del (p.Ala16272fs)
|
rs2470682520
|
|
NM_001267550.2(TTN):c.48889_48893del (p.Met16297fs)
|
|
|
NM_001267550.2(TTN):c.49046T>G (p.Leu16349Ter)
|
|
|
NM_001267550.2(TTN):c.49338T>A (p.Tyr16446Ter)
|
rs2470642551
|
|
NM_001267550.2(TTN):c.49378dup (p.Ser16460fs)
|
rs2470629154
|
|
NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)
|
rs754776552
|
|
NM_001267550.2(TTN):c.49532+1G>T
|
rs2470620124
|
|
NM_001267550.2(TTN):c.49560dup (p.Tyr16521fs)
|
rs2470582888
|
|
NM_001267550.2(TTN):c.49586dup (p.Asn16529fs)
|
|
|
NM_001267550.2(TTN):c.49658G>A (p.Trp16553Ter)
|
rs1576441321
|
|
NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter)
|
rs2056613965
|
|
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter)
|
rs1553699454
|
|
NM_001267550.2(TTN):c.4995dup (p.Thr1666fs)
|
|
|
NM_001267550.2(TTN):c.50069del (p.Lys16690fs)
|
rs1064796139
|
|
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)
|
rs751502842
|
|
NM_001267550.2(TTN):c.50134_50137dup (p.Thr16713fs)
|
rs794729321
|
|
NM_001267550.2(TTN):c.50162_50163del (p.Tyr16721fs)
|
rs2470536986
|
|
NM_001267550.2(TTN):c.50315G>A (p.Trp16772Ter)
|
rs2470522609
|
|
NM_001267550.2(TTN):c.50330del (p.Asn16777fs)
|
rs2470522008
|
|
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter)
|
rs72677249
|
|
NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs)
|
rs2470513891
|
|
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer)
|
rs1553696967
|
|
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter)
|
rs2056330918
|
|
NM_001267550.2(TTN):c.50661C>A (p.Tyr16887Ter)
|
rs1553696233
|
|
NM_001267550.2(TTN):c.50767G>T (p.Glu16923Ter)
|
rs2470493165
|
|
NM_001267550.2(TTN):c.50777_50778insTCTC (p.Arg16927fs)
|
|
|
NM_001267550.2(TTN):c.50859del (p.Asp16952_Cys16953insTer)
|
rs2470483012
|
|
NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter)
|
rs794729268
|
|
NM_001267550.2(TTN):c.51060dup (p.Asp17021fs)
|
rs2154199483
|
|
NM_001267550.2(TTN):c.51127A>T (p.Lys17043Ter)
|
rs794729269
|
|
NM_001267550.2(TTN):c.51129dup (p.Val17044fs)
|
rs2470469852
|
|
NM_001267550.2(TTN):c.51203_51224dup (p.Thr17077_Pro17078insSerArgIleTerGlyThr)
|
rs2154198963
|
|
NM_001267550.2(TTN):c.51424C>T (p.Gln17142Ter)
|
rs2470424243
|
|
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)
|
rs906494713
|
|
NM_001267550.2(TTN):c.51444del (p.Asp17149fs)
|
rs1362409861
|
|
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs)
|
rs886043718
|
|
NM_001267550.2(TTN):c.51501_51502delinsCTCCTTTGTAATATGAGGTACCTTTGTAATA (p.Trp17168delinsSerPheValIleTer)
|
|
|
NM_001267550.2(TTN):c.51503G>A (p.Trp17168Ter)
|
rs2470411842
|
|
NM_001267550.2(TTN):c.51528del (p.Ser17177fs)
|
rs2470410679
|
|
NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter)
|
rs1553692290
|
|
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer)
|
rs1553692107
|
|
NM_001267550.2(TTN):c.51916_51922del (p.Gly17306fs)
|
rs1553691187
|
|
NM_001267550.2(TTN):c.51965dup (p.Leu17322fs)
|
rs2470384677
|
|
NM_001267550.2(TTN):c.52041T>A (p.Tyr17347Ter)
|
rs2154198344
|
|
NM_001267550.2(TTN):c.52404del (p.Phe17468fs)
|
rs2470347864
|
|
NM_001267550.2(TTN):c.52518del (p.Glu17507fs)
|
rs753584634
|
|
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer)
|
rs1064792915
|
|
NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter)
|
rs1559746821
|
|
NM_001267550.2(TTN):c.52643del (p.Asn17548fs)
|
|
|
NM_001267550.2(TTN):c.5268del (p.Glu1756fs)
|
rs2532881744
|
|
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs)
|
rs878854315
|
|
NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter)
|
rs2055319182
|
|
NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter)
|
rs2154197188
|
|
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
|
rs2470299695
|
|
NM_001267550.2(TTN):c.530del (p.Asn177fs)
|
|
|
NM_001267550.2(TTN):c.53288-1G>C
|
rs1553685927
|
|
NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter)
|
rs794729273
|
|
NM_001267550.2(TTN):c.53393del (p.Gly17798fs)
|
rs794729324
|
|
NM_001267550.2(TTN):c.53412del (p.Asp17805fs)
|
rs2470278474
|
|
NM_001267550.2(TTN):c.53535del (p.Cys17845fs)
|
rs2470272884
|
|
NM_001267550.2(TTN):c.53543del (p.Pro17848fs)
|
rs2470272284
|
|
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)
|
rs1131691381
|
|
NM_001267550.2(TTN):c.53616del (p.Glu17873fs)
|
rs2470202207
|
|
NM_001267550.2(TTN):c.53649G>A (p.Trp17883Ter)
|
rs774663244
|
|
NM_001267550.2(TTN):c.5395dup (p.Ser1799fs)
|
rs1064796474
|
|
NM_001267550.2(TTN):c.54023_54024insC (p.Glu18008fs)
|
rs2470175213
|
|
NM_001267550.2(TTN):c.5404dup (p.Glu1802fs)
|
rs2532874523
|
|
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter)
|
rs1553682168
|
|
NM_001267550.2(TTN):c.54190+1G>A
|
rs756339648
|
|
NM_001267550.2(TTN):c.54259del (p.Asp18087fs)
|
rs2470159760
|
|
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs)
|
rs2054384043
|
|
NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter)
|
rs769624146
|
|
NM_001267550.2(TTN):c.54392_54393dup (p.Ile18132fs)
|
rs2054222422
|
|
NM_001267550.2(TTN):c.54427del (p.Ala18143fs)
|
rs2470124525
|
|
NM_001267550.2(TTN):c.5460_5466delinsAGT (p.Arg1821fs)
|
rs1554007128
|
|
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)
|
rs727503602
|
|
NM_001267550.2(TTN):c.54811+1G>A
|
rs1205836993
|
|
NM_001267550.2(TTN):c.54812-2A>T
|
rs2470055476
|
|
NM_001267550.2(TTN):c.54976_54979del (p.Asp18326fs)
|
rs2470049545
|
|
NM_001267550.2(TTN):c.54999dup (p.Cys18334fs)
|
rs2470048518
|
|
NM_001267550.2(TTN):c.55129_55130insC (p.Glu18377fs)
|
rs2154193431
|
|
NM_001267550.2(TTN):c.5513del (p.Lys1838fs)
|
rs1554007001
|
|
NM_001267550.2(TTN):c.55269+1G>A
|
rs2470031684
|
|
NM_001267550.2(TTN):c.5534T>A (p.Leu1845Ter)
|
rs794729576
|
|
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter)
|
rs1440093502
|
|
NM_001267550.2(TTN):c.55403dup (p.Thr18469fs)
|
rs2470013243
|
|
NM_001267550.2(TTN):c.55425dup (p.Val18476fs)
|
rs2470012385
|
|
NM_001267550.2(TTN):c.55492del (p.Leu18498fs)
|
rs2470004236
|
|
NM_001267550.2(TTN):c.55522G>T (p.Gly18508Ter)
|
|
|
NM_001267550.2(TTN):c.55884_55887del (p.Glu18629fs)
|
rs2154192604
|
|
NM_001267550.2(TTN):c.55893G>A (p.Trp18631Ter)
|
rs2154192598
|
|
NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter)
|
rs764985774
|
|
NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter)
|
rs1391010387
|
|
NM_001267550.2(TTN):c.56178del (p.Asp18727fs)
|
rs2469906284
|
|
NM_001267550.2(TTN):c.56246T>A (p.Leu18749Ter)
|
|
|
NM_001267550.2(TTN):c.56287_56288dup (p.Ile18764fs)
|
rs2469901335
|
|
NM_001267550.2(TTN):c.56440_56443del (p.Gly18814fs)
|
rs2469888970
|
|
NM_001267550.2(TTN):c.56472_56473del (p.Glu18826fs)
|
|
|
NM_001267550.2(TTN):c.56473del (p.Arg18825fs)
|
rs2469888162
|
|
NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter)
|
rs1576247054
|
|
NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs)
|
rs1294679653
|
|
NM_001267550.2(TTN):c.56598del (p.Ile18867fs)
|
rs1553664644
|
|
NM_001267550.2(TTN):c.56641del (p.Leu18881fs)
|
rs2469881916
|
|
NM_001267550.2(TTN):c.56648-1G>C
|
|
|
NM_001267550.2(TTN):c.56720del (p.Glu18907fs)
|
rs2469871880
|
|
NM_001267550.2(TTN):c.5674del (p.Asp1892fs)
|
rs2154346038
|
|
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter)
|
rs1060500526
|
|
NM_001267550.2(TTN):c.56940_56957delinsT (p.Ala18981fs)
|
rs2469861021
|
|
NM_001267550.2(TTN):c.56978dup (p.Phe18994fs)
|
rs2469852440
|
|
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer)
|
rs1553662326
|
|
NM_001267550.2(TTN):c.57277del (p.Gln19093fs)
|
rs2469805839
|
|
NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter)
|
rs1553659902
|
|
NM_001267550.2(TTN):c.57334del (p.Ile19112fs)
|
rs2469802743
|
|
NM_001267550.2(TTN):c.57377G>A (p.Trp19126Ter)
|
rs2469800384
|
|
NM_001267550.2(TTN):c.57518_57521del (p.Lys19173fs)
|
rs760967554
|
|
NM_001267550.2(TTN):c.57558del (p.Val19187fs)
|
rs1576186406
|
|
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)
|
rs794729275
|
|
NM_001267550.2(TTN):c.57865G>T (p.Glu19289Ter)
|
|
|
NM_001267550.2(TTN):c.58157dup (p.Thr19387fs)
|
rs1559622431
|
|
NM_001267550.2(TTN):c.58290dup (p.Asp19431Ter)
|
rs2469615248
|
|
NM_001267550.2(TTN):c.58474_58480del (p.Val19492fs)
|
rs2469599218
|
|
NM_001267550.2(TTN):c.58606A>T (p.Lys19536Ter)
|
rs2469594241
|
|
NM_001267550.2(TTN):c.58788_58795dup (p.Thr19599delinsAsnTer)
|
rs2469577137
|
|
NM_001267550.2(TTN):c.58838del (p.Tyr19613fs)
|
rs1576141328
|
|
NM_001267550.2(TTN):c.58925del (p.Pro19642fs)
|
rs2469572128
|
|
NM_001267550.2(TTN):c.59127del (p.Ser19710fs)
|
rs2050559188
|
|
NM_001267550.2(TTN):c.59205del (p.Glu19735fs)
|
rs397517643
|
|
NM_001267550.2(TTN):c.59277del (p.Val19760fs)
|
rs2469551141
|
|
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)
|
rs886039027
|
|
NM_001267550.2(TTN):c.59353G>T (p.Glu19785Ter)
|
rs794729276
|
|
NM_001267550.2(TTN):c.59394del (p.Val19800fs)
|
rs2469538973
|
|
NM_001267550.2(TTN):c.59602_59603del (p.Val19868fs)
|
rs2469530748
|
|
NM_001267550.2(TTN):c.59605dup (p.Ser19869fs)
|
rs2469530688
|
|
NM_001267550.2(TTN):c.59627-1G>C
|
|
|
NM_001267550.2(TTN):c.59763del (p.Ser19921fs)
|
rs1559599859
|
|
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)
|
rs2469513309
|
|
NM_001267550.2(TTN):c.59771G>A (p.Trp19924Ter)
|
|
|
NM_001267550.2(TTN):c.59836_59842del (p.Gln19946fs)
|
|
|
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)
|
rs1559598775
|
|
NM_001267550.2(TTN):c.59926+1G>A
|
rs553526525
|
|
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter)
|
rs1085307825
|
|
NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)
|
rs2469494483
|
|
NM_001267550.2(TTN):c.60138T>A (p.Tyr20046Ter)
|
|
|
NM_001267550.2(TTN):c.60153del (p.Ala20052fs)
|
|
|
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter)
|
rs1553644307
|
|
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs)
|
rs2154184873
|
|
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter)
|
rs2050116026
|
|
NM_001267550.2(TTN):c.6061C>T (p.Arg2021Ter)
|
rs2092153679
|
|
NM_001267550.2(TTN):c.60716del (p.Gly20239fs)
|
rs2469460047
|
|
NM_001267550.2(TTN):c.60837_60840delinsAA (p.Val20280fs)
|
rs2469454918
|
|
NM_001267550.2(TTN):c.60902del (p.Ser20301fs)
|
rs1553643140
|
|
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)
|
rs869312055
|
|
NM_001267550.2(TTN):c.61175G>A (p.Trp20392Ter)
|
|
|
NM_001267550.2(TTN):c.61197_61198insAT (p.Gly20400fs)
|
rs2049985232
|
|
NM_001267550.2(TTN):c.61218T>G (p.Tyr20406Ter)
|
|
|
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs)
|
rs2154184320
|
|
NM_001267550.2(TTN):c.61479_61483del (p.Ile20494fs)
|
rs1131691981
|
|
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
|
rs794729278
|
|
NM_001267550.2(TTN):c.61612del (p.Glu20538fs)
|
rs2469421735
|
|
NM_001267550.2(TTN):c.61637dup (p.Tyr20547fs)
|
rs886039084
|
|
NM_001267550.2(TTN):c.61770G>A (p.Trp20590Ter)
|
rs2469415251
|
|
NM_001267550.2(TTN):c.61830dup (p.Pro20611fs)
|
rs2154184083
|
|
NM_001267550.2(TTN):c.61855del (p.Val20619fs)
|
rs2469411858
|
|
NM_001267550.2(TTN):c.61890del (p.Asn20631fs)
|
rs2469410613
|
|
NM_001267550.2(TTN):c.62131_62135dup (p.Asp20713fs)
|
rs2469400184
|
|
NM_001267550.2(TTN):c.62173G>T (p.Glu20725Ter)
|
|
|
NM_001267550.2(TTN):c.62197_62198insC (p.Cys20733fs)
|
rs2469397711
|
|
NM_001267550.2(TTN):c.62272del (p.Glu20758fs)
|
|
|
NM_001267550.2(TTN):c.62299C>T (p.Gln20767Ter)
|
rs1553640642
|
|
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter)
|
rs757231565
|
|
NM_001267550.2(TTN):c.62506_62510del (p.Lys20835_Arg20836insTer)
|
|
|
NM_001267550.2(TTN):c.62610dup (p.Leu20871fs)
|
|
|
NM_001267550.2(TTN):c.62627del (p.Val20876fs)
|
rs1553640190
|
|
NM_001267550.2(TTN):c.62654G>A (p.Trp20885Ter)
|
rs2469376762
|
|
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)
|
rs543860009
|
|
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)
|
rs876657666
|
|
NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter)
|
rs1306891128
|
|
NM_001267550.2(TTN):c.62966del (p.Tyr20989fs)
|
rs2469363669
|
|
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter)
|
rs368452607
|
|
NM_001267550.2(TTN):c.63142_63143del (p.Glu21048fs)
|
rs2469355092
|
|
NM_001267550.2(TTN):c.63234del (p.Lys21078fs)
|
rs2469329299
|
|
NM_001267550.2(TTN):c.63333del (p.Pro21112fs)
|
|
|
NM_001267550.2(TTN):c.63467del (p.Pro21156fs)
|
rs2469318845
|
|
NM_001267550.2(TTN):c.63504del (p.Ile21168_Leu21169insTer)
|
rs2154182600
|
|
NM_001267550.2(TTN):c.63526_63527del (p.Leu21176fs)
|
rs2154182483
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
NM_001267550.2(TTN):c.63615del (p.Val21206fs)
|
|
|
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter)
|
rs2049307995
|
|
NM_001267550.2(TTN):c.63792del (p.Asp21265fs)
|
rs2469297748
|
|
NM_001267550.2(TTN):c.6381C>G (p.Tyr2127Ter)
|
rs2092121151
|
|
NM_001267550.2(TTN):c.63898_63899del (p.His21300fs)
|
rs2469283584
|
|
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)
|
rs1553636324
|
|
NM_001267550.2(TTN):c.64198_64202dup (p.Tyr21401Ter)
|
|
|
NM_001267550.2(TTN):c.64243del (p.Trp21415fs)
|
rs2469245062
|
|
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter)
|
rs794729329
|
|
NM_001267550.2(TTN):c.64287del (p.Gly21430fs)
|
rs2049038862
|
|
NM_001267550.2(TTN):c.64397-1G>A
|
rs876657668
|
|
NM_001267550.2(TTN):c.64397-2del
|
rs2469181316
|
|
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter)
|
rs768345594
|
|
NM_001267550.2(TTN):c.64468del (p.Val21490fs)
|
rs2469178279
|
|
NM_001267550.2(TTN):c.64495_64498dup (p.Trp21500Ter)
|
|
|
NM_001267550.2(TTN):c.64551dup (p.Ala21518fs)
|
|
|
NM_001267550.2(TTN):c.64586_64587del (p.Val21529fs)
|
rs2469173765
|
|
NM_001267550.2(TTN):c.64688del (p.Pro21563fs)
|
rs774395395
|
|
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)
|
rs767011515
|
|
NM_001267550.2(TTN):c.64849del (p.Thr21617fs)
|
rs2469155018
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
NM_001267550.2(TTN):c.6501del (p.Val2168fs)
|
|
|
NM_001267550.2(TTN):c.65040G>A (p.Trp21680Ter)
|
rs2469142626
|
|
NM_001267550.2(TTN):c.65156_65157dup (p.Pro21720fs)
|
rs2469137282
|
|
NM_001267550.2(TTN):c.65324dup (p.Leu21776fs)
|
rs2469106192
|
|
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter)
|
rs1193046655
|
|
NM_001267550.2(TTN):c.65394del (p.Lys21798fs)
|
|
|
NM_001267550.2(TTN):c.65449del (p.Glu21817fs)
|
rs2469101483
|
|
NM_001267550.2(TTN):c.65536del (p.Ser21846fs)
|
rs2469098192
|
|
NM_001267550.2(TTN):c.65696_65706del (p.Lys21899fs)
|
rs2469065314
|
|
NM_001267550.2(TTN):c.65704_65712delinsT (p.Gly21901_Thr21902insTer)
|
rs2469065049
|
|
NM_001267550.2(TTN):c.65783_65805del (p.Arg21928fs)
|
|
|
NM_001267550.2(TTN):c.6583G>T (p.Glu2195Ter)
|
|
|
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter)
|
rs748313513
|
|
NM_001267550.2(TTN):c.66010del (p.Ala22004fs)
|
|
|
NM_001267550.2(TTN):c.66059_66060del (p.Leu22020fs)
|
rs2469025786
|
|
NM_001267550.2(TTN):c.66159T>A (p.Tyr22053Ter)
|
rs760885240
|
|
NM_001267550.2(TTN):c.66176dup (p.Cys22059fs)
|
rs2469016068
|
|
NM_001267550.2(TTN):c.66222dup (p.Ser22075fs)
|
|
|
NM_001267550.2(TTN):c.66401dup (p.Asn22134fs)
|
|
|
NM_001267550.2(TTN):c.66464-2A>G
|
rs1575921187
|
|
NM_001267550.2(TTN):c.66593del (p.Ala22198fs)
|
rs2468991750
|
|
NM_001267550.2(TTN):c.66679C>T (p.Gln22227Ter)
|
rs2468989119
|
|
NM_001267550.2(TTN):c.66816_66817del (p.Leu22273fs)
|
rs2154176484
|
|
NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter)
|
rs779240170
|
|
NM_001267550.2(TTN):c.669+1G>T
|
rs1574982376
|
|
NM_001267550.2(TTN):c.66968del (p.Asn22323fs)
|
rs2154176360
|
|
NM_001267550.2(TTN):c.67028dup (p.Glu22344fs)
|
rs2047417339
|
|
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs)
|
rs1476017129
|
|
NM_001267550.2(TTN):c.67374del (p.Lys22459_Val22460insTer)
|
rs2468900294
|
|
NM_001267550.2(TTN):c.67421del (p.Lys22474fs)
|
rs794729332
|
|
NM_001267550.2(TTN):c.67609del (p.Ile22537fs)
|
rs1553622205
|
|
NM_001267550.2(TTN):c.67637-1G>C
|
rs886038831
|
|
NM_001267550.2(TTN):c.67823_67824del (p.Leu22608fs)
|
|
|
NM_001267550.2(TTN):c.67900_67901del (p.Gly22634fs)
|
rs2468869425
|
|
NM_001267550.2(TTN):c.67932dup (p.Gly22645fs)
|
|
|
NM_001267550.2(TTN):c.67952_67955del (p.Ile22651fs)
|
rs2047099006
|
|
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)
|
rs145649088
|
|
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs)
|
rs1085307600
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
NM_001267550.2(TTN):c.68350G>T (p.Glu22784Ter)
|
rs1423648586
|
|
NM_001267550.2(TTN):c.68370G>A (p.Trp22790Ter)
|
rs2468816812
|
|
NM_001267550.2(TTN):c.68427del (p.Glu22810fs)
|
rs2468814033
|
|
NM_001267550.2(TTN):c.68442T>A (p.Tyr22814Ter)
|
rs2468813508
|
|
NM_001267550.2(TTN):c.6857T>G (p.Leu2286Ter)
|
|
|
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)
|
rs1213930919
|
|
NM_001267550.2(TTN):c.68746_68749dup (p.Arg22917delinsAsnTer)
|
rs2468794483
|
|
NM_001267550.2(TTN):c.68862dup (p.Gly22955fs)
|
rs2468781847
|
|
NM_001267550.2(TTN):c.68993C>A (p.Ser22998Ter)
|
rs2468776213
|
|
NM_001267550.2(TTN):c.69078del (p.Phe23026fs)
|
rs2468772442
|
|
NM_001267550.2(TTN):c.69131del (p.Pro23044fs)
|
rs2154173603
|
|
NM_001267550.2(TTN):c.69131dup (p.Gly23045fs)
|
rs2154173603
|
|
NM_001267550.2(TTN):c.69211_69214delinsTCT (p.Pro23071fs)
|
rs886039741
|
|
NM_001267550.2(TTN):c.69244del (p.Thr23082fs)
|
rs2468762969
|
|
NM_001267550.2(TTN):c.69291C>A (p.Cys23097Ter)
|
rs2468761188
|
|
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs)
|
rs1247353236
|
|
NM_001267550.2(TTN):c.69422_69423delinsAAAAGGA (p.Gly23141fs)
|
rs2468749792
|
|
NM_001267550.2(TTN):c.69422_69426delinsAAAAGGACCC (p.Gly23141fs)
|
rs2046539116
|
|
NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs)
|
rs397517679
|
|
NM_001267550.2(TTN):c.69536_69543dup (p.Lys23182fs)
|
rs2468743550
|
|
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter)
|
rs878854328
|
|
NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs)
|
rs2046499843
|
|
NM_001267550.2(TTN):c.69860G>A (p.Trp23287Ter)
|
rs869067204
|
|
NM_001267550.2(TTN):c.69999del (p.Glu23334fs)
|
rs2468713552
|
|
NM_001267550.2(TTN):c.70000del (p.Glu23334fs)
|
rs1131691811
|
|
NM_001267550.2(TTN):c.70131_70132dup (p.Trp23378fs)
|
|
|
NM_001267550.2(TTN):c.70137_70138delinsTTCAGGTTG (p.Lys23380delinsSerGlyTer)
|
rs2468706609
|
|
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs)
|
rs1553614347
|
|
NM_001267550.2(TTN):c.70378_70379del (p.Leu23460fs)
|
rs2468696124
|
|
NM_001267550.2(TTN):c.70420A>T (p.Lys23474Ter)
|
rs2154172475
|
|
NM_001267550.2(TTN):c.70571_70572dup (p.Glu23525fs)
|
rs1709775754
|
|
NM_001267550.2(TTN):c.70699dup (p.Tyr23567fs)
|
rs2468678417
|
|
NM_001267550.2(TTN):c.70794del (p.Glu23599fs)
|
rs1553612904
|
|
NM_001267550.2(TTN):c.70810C>T (p.Gln23604Ter)
|
rs747651345
|
|
NM_001267550.2(TTN):c.7082del (p.Gly2361fs)
|
|
|
NM_001267550.2(TTN):c.70890_70891del (p.Pro23631fs)
|
rs2468666500
|
|
NM_001267550.2(TTN):c.70915delinsAGAAACTGACC (p.Tyr23639delinsArgAsnTer)
|
rs2468665214
|
|
NM_001267550.2(TTN):c.71007del (p.Gly23670fs)
|
rs2468661040
|
|
NM_001267550.2(TTN):c.71024_71027del (p.Lys23675fs)
|
rs1709577304
|
|
NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter)
|
rs1575796530
|
|
NM_001267550.2(TTN):c.71176dup (p.Ile23726fs)
|
rs2468654445
|
|
NM_001267550.2(TTN):c.71242del (p.Trp23748fs)
|
rs1060500514
|
|
NM_001267550.2(TTN):c.71421T>G (p.Tyr23807Ter)
|
rs745999472
|
|
NM_001267550.2(TTN):c.71491_71492insT (p.Gly23831fs)
|
rs1196000654
|
|
NM_001267550.2(TTN):c.71620C>T (p.Gln23874Ter)
|
|
|
NM_001267550.2(TTN):c.71634del (p.Ala23879fs)
|
rs727503565
|
|
NM_001267550.2(TTN):c.71661del (p.Lys23887fs)
|
rs2468631530
|
|
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer)
|
rs1709360511
|
|
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs)
|
rs1254650118
|
|
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer)
|
rs794729338
|
|
NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter)
|
rs1709195189
|
|
NM_001267550.2(TTN):c.72130_72133del (p.Gly24044fs)
|
rs2154171220
|
|
NM_001267550.2(TTN):c.72267_72270del (p.Asn24089fs)
|
|
|
NM_001267550.2(TTN):c.72574G>T (p.Glu24192Ter)
|
rs2154170941
|
|
NM_001267550.2(TTN):c.72611del (p.Gly24204fs)
|
|
|
NM_001267550.2(TTN):c.72630dup (p.Ser24211fs)
|
rs2468588490
|
|
NM_001267550.2(TTN):c.72632C>G (p.Ser24211Ter)
|
rs2468588268
|
|
NM_001267550.2(TTN):c.72645delinsCTGCAA (p.Ala24216fs)
|
rs1553609137
|
|
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs)
|
rs751319893
|
|
NM_001267550.2(TTN):c.72835_72838dup (p.Leu24280Ter)
|
rs2468577902
|
|
NM_001267550.2(TTN):c.73114_73132del (p.Ile24372fs)
|
rs2468564655
|
|
NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)
|
rs1250752630
|
|
NM_001267550.2(TTN):c.73324_73331dup (p.Cys24444fs)
|
rs2468554373
|
|
NM_001267550.2(TTN):c.73346_73347del (p.Phe24449fs)
|
rs2154170352
|
|
NM_001267550.2(TTN):c.73385_73386delinsC (p.Trp24462fs)
|
rs2468551534
|
|
NM_001267550.2(TTN):c.73469dup (p.Asn24490fs)
|
rs2468547967
|
|
NM_001267550.2(TTN):c.73508del (p.Asn24503fs)
|
rs886038839
|
|
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs)
|
rs794729397
|
|
NM_001267550.2(TTN):c.73673del (p.Lys24558fs)
|
|
|
NM_001267550.2(TTN):c.73734G>A (p.Trp24578Ter)
|
rs753105114
|
|
NM_001267550.2(TTN):c.73767C>G (p.Tyr24589Ter)
|
|
|
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter)
|
rs2154169928
|
|
NM_001267550.2(TTN):c.73975_74029del (p.Gly24659fs)
|
rs2468522858
|
|
NM_001267550.2(TTN):c.74246G>A (p.Trp24749Ter)
|
|
|
NM_001267550.2(TTN):c.74368_74372del (p.Lys24789_Leu24790insTer)
|
rs2468507533
|
|
NM_001267550.2(TTN):c.74381_74382del (p.Ala24794fs)
|
rs2468506986
|
|
NM_001267550.2(TTN):c.74608del (p.Ala24870fs)
|
rs878854332
|
|
NM_001267550.2(TTN):c.74865G>A (p.Trp24955Ter)
|
rs1708081683
|
|
NM_001267550.2(TTN):c.74901del (p.Lys24967fs)
|
rs2468484409
|
|
NM_001267550.2(TTN):c.7495A>T (p.Lys2499Ter)
|
rs2532675283
|
|
NM_001267550.2(TTN):c.75003T>G (p.Tyr25001Ter)
|
|
|
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter)
|
rs781459488
|
|
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs)
|
rs794729340
|
|
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter)
|
rs794729286
|
|
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)
|
rs794729382
|
|
NM_001267550.2(TTN):c.75468_75469delinsCT (p.Arg25157Ter)
|
rs2468459965
|
|
NM_001267550.2(TTN):c.75479_75482del (p.Ile25160fs)
|
rs1553603364
|
|
NM_001267550.2(TTN):c.75507_75508del (p.Ser25170fs)
|
rs2468458306
|
|
NM_001267550.2(TTN):c.75542_75554del (p.Asn25181fs)
|
rs2468456267
|
|
NM_001267550.2(TTN):c.75568del (p.Ala25190fs)
|
rs2468455749
|
|
NM_001267550.2(TTN):c.7557del (p.Gly2520fs)
|
rs2532671828
|
|
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)
|
rs1553603036
|
|
NM_001267550.2(TTN):c.75669_75670del (p.Leu25224fs)
|
rs2468451818
|
|
NM_001267550.2(TTN):c.75741del (p.Ser25248fs)
|
rs2468449263
|
|
NM_001267550.2(TTN):c.75778C>T (p.Gln25260Ter)
|
|
|
NM_001267550.2(TTN):c.76023dup (p.Glu25342Ter)
|
|
|
NM_001267550.2(TTN):c.76238_76239del (p.Lys25413fs)
|
rs2468425787
|
|
NM_001267550.2(TTN):c.76240dup (p.Val25414fs)
|
rs1707514832
|
|
NM_001267550.2(TTN):c.76293T>G (p.Tyr25431Ter)
|
rs763605078
|
|
NM_001267550.2(TTN):c.76342_76345dup (p.Val25449fs)
|
rs2154168044
|
|
NM_001267550.2(TTN):c.76383_76386del (p.Asn25462fs)
|
rs869312078
|
|
NM_001267550.2(TTN):c.76401del (p.Glu25467_Val25468insTer)
|
rs2468418251
|
|
NM_001267550.2(TTN):c.76403del (p.Val25468fs)
|
rs2468417997
|
|
NM_001267550.2(TTN):c.76446_76447del (p.Ala25483fs)
|
rs1707425522
|
|
NM_001267550.2(TTN):c.76507del (p.Glu25503fs)
|
rs2154167928
|
|
NM_001267550.2(TTN):c.76634del (p.Gly25545fs)
|
rs2468408553
|
|
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)
|
rs767450912
|
|
NM_001267550.2(TTN):c.76770del (p.Lys25590fs)
|
|
|
NM_001267550.2(TTN):c.76779del (p.Phe25593fs)
|
rs2468402452
|
|
NM_001267550.2(TTN):c.76940C>G (p.Ser25647Ter)
|
rs2468395152
|
|
NM_001267550.2(TTN):c.76953del (p.Val25651_Val25652insTer)
|
rs2468394423
|
|
NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)
|
rs1707186504
|
|
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs)
|
rs794729343
|
|
NM_001267550.2(TTN):c.77113del (p.Lys25704_Ile25705insTer)
|
rs2468387098
|
|
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
|
rs2468386814
|
|
NM_001267550.2(TTN):c.77147_77150del (p.Val25715_Ser25716insTer)
|
rs1466647934
|
|
NM_001267550.2(TTN):c.77183del (p.Ser25728fs)
|
rs2468384784
|
|
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter)
|
rs765997807
|
|
NM_001267550.2(TTN):c.77230A>T (p.Lys25744Ter)
|
rs2468382923
|
|
NM_001267550.2(TTN):c.77237C>A (p.Ser25746Ter)
|
rs2468382669
|
|
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter)
|
rs794729287
|
|
NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter)
|
rs760625258
|
|
NM_001267550.2(TTN):c.77546C>A (p.Ser25849Ter)
|
rs2468369853
|
|
NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs)
|
rs794729345
|
|
NM_001267550.2(TTN):c.7766del (p.Lys2588_Leu2589insTer)
|
rs2532653345
|
|
NM_001267550.2(TTN):c.77884del (p.Gln25962fs)
|
rs2468355094
|
|
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter)
|
rs1553596594
|
|
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
|
rs751230035
|
|
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter)
|
rs1064793668
|
|
NM_001267550.2(TTN):c.78425del (p.Asn26142fs)
|
rs2468333440
|
|
NM_001267550.2(TTN):c.78489dup (p.Ile26164fs)
|
rs2468331033
|
|
NM_001267550.2(TTN):c.78563_78566dup (p.Glu26189delinsAspTer)
|
rs2468328310
|
|
NM_001267550.2(TTN):c.78572dup (p.Arg26192fs)
|
|
|
NM_001267550.2(TTN):c.78588_78624dup (p.Glu26209fs)
|
rs1706342425
|
|
NM_001267550.2(TTN):c.78697del (p.Glu26233fs)
|
rs2468323213
|
|
NM_001267550.2(TTN):c.78728_78731del (p.Lys26243fs)
|
rs2468321548
|
|
NM_001267550.2(TTN):c.78749del (p.Leu26250fs)
|
rs1064793285
|
|
NM_001267550.2(TTN):c.78961_78964del (p.His26321fs)
|
|
|
NM_001267550.2(TTN):c.78962_80999delinsTGCTTATT (p.His26321fs)
|
|
|
NM_001267550.2(TTN):c.79066G>T (p.Glu26356Ter)
|
|
|
NM_001267550.2(TTN):c.79275_79276del (p.Asp26427fs)
|
rs2468301810
|
|
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter)
|
rs774411587
|
|
NM_001267550.2(TTN):c.79447dup (p.Asp26483fs)
|
rs886039211
|
|
NM_001267550.2(TTN):c.79563del (p.Tyr26522fs)
|
|
|
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter)
|
rs1064793911
|
|
NM_001267550.2(TTN):c.79618C>T (p.Gln26540Ter)
|
|
|
NM_001267550.2(TTN):c.79712T>G (p.Leu26571Ter)
|
rs2468284394
|
|
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter)
|
rs1705879851
|
|
NM_001267550.2(TTN):c.79750G>T (p.Glu26584Ter)
|
rs2468282675
|
|
NM_001267550.2(TTN):c.79780del (p.Asp26595fs)
|
rs2468281908
|
|
NM_001267550.2(TTN):c.79797_79822dup (p.Gly26608delinsGluLysGluLeuLeuTer)
|
rs2154165475
|
|
NM_001267550.2(TTN):c.80125_80126dup (p.Asp26710fs)
|
rs1705700724
|
|
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer)
|
rs2154165199
|
|
NM_001267550.2(TTN):c.80328del (p.Ala26777fs)
|
rs2468261203
|
|
NM_001267550.2(TTN):c.80365_80432del (p.Leu26789fs)
|
rs1575674631
|
|
NM_001267550.2(TTN):c.80371dup (p.Asp26791fs)
|
rs2468259366
|
|
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter)
|
rs2154165062
|
|
NM_001267550.2(TTN):c.80401dup (p.Trp26801fs)
|
rs2468257785
|
|
NM_001267550.2(TTN):c.80584del (p.Ser26862fs)
|
rs794729348
|
|
NM_001267550.2(TTN):c.80651T>A (p.Leu26884Ter)
|
rs2468248886
|
|
NM_001267550.2(TTN):c.80738G>A (p.Trp26913Ter)
|
rs1705368893
|
|
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter)
|
rs794729291
|
|
NM_001267550.2(TTN):c.80855_80856dup (p.Thr26953Ter)
|
rs2468240887
|
|
NM_001267550.2(TTN):c.80895_80896del (p.Ser26966fs)
|
|
|
NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter)
|
rs1060500562
|
|
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer)
|
rs727503559
|
|
NM_001267550.2(TTN):c.81009C>A (p.Cys27003Ter)
|
|
|
NM_001267550.2(TTN):c.81126del (p.Glu27042fs)
|
rs1553579429
|
|
NM_001267550.2(TTN):c.81159T>A (p.Tyr27053Ter)
|
rs2468227378
|
|
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs)
|
rs794729394
|
|
NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs)
|
rs749610641
|
|
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs)
|
rs886038928
|
|
NM_001267550.2(TTN):c.81357G>A (p.Trp27119Ter)
|
rs1384101598
|
|
NM_001267550.2(TTN):c.81522_81529del (p.Pro27174_Gly27175insTer)
|
rs2468212825
|
|
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
|
|
|
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)
|
rs769821404
|
|
NM_001267550.2(TTN):c.81746del (p.Asn27249fs)
|
rs2468204803
|
|
NM_001267550.2(TTN):c.81747del (p.Asn27249fs)
|
rs2468204757
|
|
NM_001267550.2(TTN):c.81758del (p.Asn27253fs)
|
rs2154162603
|
|
NM_001267550.2(TTN):c.81926G>A (p.Trp27309Ter)
|
|
|
NM_001267550.2(TTN):c.82173G>A (p.Trp27391Ter)
|
|
|
NM_001267550.2(TTN):c.82184T>A (p.Leu27395Ter)
|
rs2468186675
|
|
NM_001267550.2(TTN):c.82186dup (p.Gln27396fs)
|
rs2468186571
|
|
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter)
|
rs371332011
|
|
NM_001267550.2(TTN):c.82310_82311del (p.Gly27437fs)
|
rs2468182036
|
|
NM_001267550.2(TTN):c.82401T>G (p.Tyr27467Ter)
|
rs771006818
|
|
NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)
|
rs2468175075
|
|
NM_001267550.2(TTN):c.82594dup (p.Thr27532fs)
|
rs1064795407
|
|
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)
|
rs779874042
|
|
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)
|
rs869178171
|
|
NM_001267550.2(TTN):c.82659del (p.Glu27554fs)
|
rs2468165346
|
|
NM_001267550.2(TTN):c.82888C>T (p.Gln27630Ter)
|
rs2468154852
|
|
NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter)
|
rs2468154010
|
|
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs)
|
rs869312037
|
|
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)
|
rs1559314812
|
|
NM_001267550.2(TTN):c.83284A>T (p.Arg27762Ter)
|
rs781734969
|
|
NM_001267550.2(TTN):c.83360G>A (p.Trp27787Ter)
|
rs2468134625
|
|
NM_001267550.2(TTN):c.83747_83751del (p.Val27916fs)
|
rs2469725831
|
|
NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs)
|
rs1575633082
|
|
NM_001267550.2(TTN):c.83935C>T (p.Gln27979Ter)
|
rs2469717681
|
|
NM_001267550.2(TTN):c.84109_84110del (p.Val28037fs)
|
rs2154160413
|
|
NM_001267550.2(TTN):c.84286_84289del (p.Glu28096fs)
|
|
|
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs)
|
rs1553565463
|
|
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter)
|
rs869312119
|
|
NM_001267550.2(TTN):c.8442del (p.Phe2814fs)
|
rs2532489689
|
|
NM_001267550.2(TTN):c.84476del (p.Gly28159fs)
|
rs1553564694
|
|
NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter)
|
rs397517729
|
|
NM_001267550.2(TTN):c.84557dup (p.Ile28187fs)
|
rs1553564589
|
|
NM_001267550.2(TTN):c.84583G>T (p.Glu28195Ter)
|
rs2469696390
|
|
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs)
|
rs1703664543
|
|
NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter)
|
rs2154159715
|
|
NM_001267550.2(TTN):c.84676_84679del (p.Glu28226fs)
|
|
|
NM_001267550.2(TTN):c.84819del (p.Trp28273fs)
|
rs2154159514
|
|
NM_001267550.2(TTN):c.84933C>G (p.Tyr28311Ter)
|
rs757013679
|
|
NM_001267550.2(TTN):c.84979del (p.Val28327fs)
|
|
|
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter)
|
rs1703437679
|
|
NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter)
|
rs1553563519
|
|
NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter)
|
rs769664554
|
|
NM_001267550.2(TTN):c.85295del (p.Leu28432fs)
|
rs1575616801
|
|
NM_001267550.2(TTN):c.85374dup (p.Glu28459Ter)
|
|
|
NM_001267550.2(TTN):c.85408_85409del (p.Leu28470fs)
|
rs2154159007
|
|
NM_001267550.2(TTN):c.85494G>A (p.Trp28498Ter)
|
rs1703274205
|
|
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs)
|
rs762286447
|
|
NM_001267550.2(TTN):c.85707_85708del (p.Cys28570fs)
|
rs1219440385
|
|
NM_001267550.2(TTN):c.86015G>A (p.Trp28672Ter)
|
rs1559284497
|
|
NM_001267550.2(TTN):c.86105_86108del (p.Ile28702fs)
|
rs2469642822
|
|
NM_001267550.2(TTN):c.86267_86268del (p.Ile28756fs)
|
rs2469637523
|
|
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs)
|
rs794729354
|
|
NM_001267550.2(TTN):c.86413_86417delinsATGG (p.Asp28805fs)
|
rs2469629904
|
|
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter)
|
rs1553560951
|
|
NM_001267550.2(TTN):c.86441del (p.Asn28814fs)
|
rs2469628413
|
|
NM_001267550.2(TTN):c.86620G>T (p.Gly28874Ter)
|
rs765852996
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
NM_001267550.2(TTN):c.86992del (p.Thr28998fs)
|
rs2469572245
|
|
NM_001267550.2(TTN):c.87143dup (p.Asn29048fs)
|
|
|
NM_001267550.2(TTN):c.87238del (p.Arg29080fs)
|
rs757007819
|
|
NM_001267550.2(TTN):c.87256A>T (p.Lys29086Ter)
|
|
|
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs)
|
rs2469555480
|
|
NM_001267550.2(TTN):c.87296dup (p.Asn29099fs)
|
rs2469555432
|
|
NM_001267550.2(TTN):c.87381_87424dup (p.Thr29142delinsLysLeuSerLeuThrLeuLeuCysTer)
|
rs2469550341
|
|
NM_001267550.2(TTN):c.87451del (p.Thr29151fs)
|
rs2154156000
|
|
NM_001267550.2(TTN):c.87515dup (p.Asn29172fs)
|
rs2469547329
|
|
NM_001267550.2(TTN):c.87572dup (p.Val29192fs)
|
rs2469544518
|
|
NM_001267550.2(TTN):c.87716del (p.Gly29239fs)
|
rs869312028
|
|
NM_001267550.2(TTN):c.87733dup (p.Trp29245fs)
|
rs1553553671
|
|
NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter)
|
rs1701973330
|
|
NM_001267550.2(TTN):c.87834_87837del (p.Asp29278fs)
|
rs756035074
|
|
NM_001267550.2(TTN):c.87835del (p.Arg29279fs)
|
rs2154155616
|
|
NM_001267550.2(TTN):c.87841_87842del (p.Ser29281fs)
|
rs2469527656
|
|
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter)
|
rs200314496
|
|
NM_001267550.2(TTN):c.88000del (p.Asp29334fs)
|
rs2469521534
|
|
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs)
|
rs2154155280
|
|
NM_001267550.2(TTN):c.88121_88122del (p.Arg29374fs)
|
|
|
NM_001267550.2(TTN):c.88184del (p.Phe29395fs)
|
rs1553551651
|
|
NM_001267550.2(TTN):c.88311del (p.Pro29438fs)
|
rs2469412099
|
|
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter)
|
rs1553547657
|
|
NM_001267550.2(TTN):c.88636_88637del (p.Val29546fs)
|
rs2469391309
|
|
NM_001267550.2(TTN):c.88696del (p.Ile29566fs)
|
rs1064796323
|
|
NM_001267550.2(TTN):c.88703_88704del (p.His29568fs)
|
rs794729360
|
|
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)
|
rs766450773
|
|
NM_001267550.2(TTN):c.8884_8898delinsTAAATG (p.Ala2962_Val2966delinsTer)
|
rs2532456803
|
|
NM_001267550.2(TTN):c.88852_88855del (p.Glu29618fs)
|
rs2154152955
|
|
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)
|
rs886038916
|
|
NM_001267550.2(TTN):c.89040G>A (p.Trp29680Ter)
|
rs2469353500
|
|
NM_001267550.2(TTN):c.89077C>T (p.Gln29693Ter)
|
rs2469351716
|
|
NM_001267550.2(TTN):c.89127T>A (p.Cys29709Ter)
|
|
|
NM_001267550.2(TTN):c.89150del (p.Gly29717fs)
|
rs2154152449
|
|
NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter)
|
rs762411631
|
|
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs)
|
rs1575534947
|
|
NM_001267550.2(TTN):c.89275_89278del (p.Val29759fs)
|
rs2469338226
|
|
NM_001267550.2(TTN):c.89288del (p.Gly29763fs)
|
rs1575534208
|
|
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter)
|
rs200503016
|
|
NM_001267550.2(TTN):c.89563del (p.Glu29855fs)
|
|
|
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter)
|
rs727505224
|
|
NM_001267550.2(TTN):c.89985dup (p.Asp29996fs)
|
rs2469307457
|
|
NM_001267550.2(TTN):c.90286_90292del (p.Gln30096fs)
|
rs2469296980
|
|
NM_001267550.2(TTN):c.9047del (p.Met3016fs)
|
rs2532400378
|
|
NM_001267550.2(TTN):c.90628del (p.Val30210fs)
|
rs2154151163
|
|
NM_001267550.2(TTN):c.90657del (p.Ile30220fs)
|
rs2469283054
|
|
NM_001267550.2(TTN):c.90721dup (p.Ser30241fs)
|
rs2469280642
|
|
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter)
|
rs1060500495
|
|
NM_001267550.2(TTN):c.90762del (p.Gly30255fs)
|
|
|
NM_001267550.2(TTN):c.90825del (p.Cys30276fs)
|
|
|
NM_001267550.2(TTN):c.90827dup (p.Cys30276fs)
|
rs2469276710
|
|
NM_001267550.2(TTN):c.90900_90901del (p.Arg30300fs)
|
rs2469274169
|
|
NM_001267550.2(TTN):c.90935del (p.Val30312fs)
|
rs2469272983
|
|
NM_001267550.2(TTN):c.91113G>A (p.Trp30371Ter)
|
rs1553538469
|
|
NM_001267550.2(TTN):c.91192del (p.Arg30398fs)
|
rs2469262451
|
|
NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer)
|
rs727505076
|
|
NM_001267550.2(TTN):c.91352dup (p.Ser30452fs)
|
rs2469239373
|
|
NM_001267550.2(TTN):c.91445_91446del (p.Thr30482fs)
|
rs1699247877
|
|
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter)
|
rs727504646
|
|
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs)
|
rs1559192617
|
|
NM_001267550.2(TTN):c.91550_91559del (p.Thr30517fs)
|
|
|
NM_001267550.2(TTN):c.91565-1G>A
|
rs775248181
|
|
NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter)
|
rs1553536305
|
|
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)
|
rs779129892
|
|
NM_001267550.2(TTN):c.91784_91790delinsAC (p.Gly30595fs)
|
rs2469186967
|
|
NM_001267550.2(TTN):c.91791del (p.Val30596_Tyr30597insTer)
|
|
|
NM_001267550.2(TTN):c.91859del (p.Pro30620fs)
|
rs2469178597
|
|
NM_001267550.2(TTN):c.91875del (p.Pro30626fs)
|
rs757451467
|
|
NM_001267550.2(TTN):c.91911_91913delinsAGTCATCT (p.Met30637fs)
|
rs2469176505
|
|
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)
|
rs1698600051
|
|
NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter)
|
rs2154148429
|
|
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs)
|
rs756367933
|
|
NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter)
|
rs2469158014
|
|
NM_001267550.2(TTN):c.92404G>T (p.Gly30802Ter)
|
rs2469154798
|
|
NM_001267550.2(TTN):c.92493del (p.Asp30832fs)
|
rs2469152579
|
|
NM_001267550.2(TTN):c.92568T>A (p.Tyr30856Ter)
|
rs1296831661
|
|
NM_001267550.2(TTN):c.92620G>T (p.Glu30874Ter)
|
rs2469149367
|
|
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs)
|
rs886039145
|
|
NM_001267550.2(TTN):c.92652_92659del (p.Asp30885fs)
|
rs1559175090
|
|
NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter)
|
rs1305222903
|
|
NM_001267550.2(TTN):c.92661del (p.Ala30888fs)
|
rs2469148059
|
|
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)
|
rs869312065
|
|
NM_001267550.2(TTN):c.92722del (p.Cys30908fs)
|
|
|
NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter)
|
rs1553532356
|
|
NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter)
|
rs2154147529
|
|
NM_001267550.2(TTN):c.9319A>T (p.Lys3107Ter)
|
|
|
NM_001267550.2(TTN):c.93288T>A (p.Tyr31096Ter)
|
rs1280272876
|
|
NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter)
|
rs1454572839
|
|
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)
|
rs886044536
|
|
NM_001267550.2(TTN):c.93553del (p.Arg31185fs)
|
|
|
NM_001267550.2(TTN):c.93641del (p.Thr31214fs)
|
rs2469112296
|
|
NM_001267550.2(TTN):c.93735del (p.Lys31246_Val31247insTer)
|
rs2469109067
|
|
NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter)
|
rs1553528016
|
|
NM_001267550.2(TTN):c.93796del (p.Thr31266fs)
|
|
|
NM_001267550.2(TTN):c.93803_93804del (p.Lys31268fs)
|
|
|
NM_001267550.2(TTN):c.93853A>T (p.Arg31285Ter)
|
rs2469105624
|
|
NM_001267550.2(TTN):c.93875_93877delinsTT (p.Asn31292fs)
|
|
|
NM_001267550.2(TTN):c.9395del (p.Gly3132fs)
|
rs2532340410
|
|
NM_001267550.2(TTN):c.94167del (p.Phe31389fs)
|
rs747837187
|
|
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)
|
rs727503547
|
|
NM_001267550.2(TTN):c.94190C>A (p.Ser31397Ter)
|
rs2469095187
|
|
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)
|
rs1697595705
|
|
NM_001267550.2(TTN):c.94298del (p.Tyr31433fs)
|
rs2469083896
|
|
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter)
|
rs1553524697
|
|
NM_001267550.2(TTN):c.94452T>G (p.Tyr31484Ter)
|
rs763668385
|
|
NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)
|
rs2469069452
|
|
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter)
|
rs1060500435
|
|
NM_001267550.2(TTN):c.94866del (p.Asp31623fs)
|
|
|
NM_001267550.2(TTN):c.94889del (p.Gly31630fs)
|
|
|
NM_001267550.2(TTN):c.94963G>T (p.Glu31655Ter)
|
|
|
NM_001267550.2(TTN):c.94991T>A (p.Leu31664Ter)
|
rs2154145831
|
|
NM_001267550.2(TTN):c.95023_95024del (p.Ile31675fs)
|
rs1697105934
|
|
NM_001267550.2(TTN):c.95266del (p.Trp31755_Val31756insTer)
|
rs2154145523
|
|
NM_001267550.2(TTN):c.95343del (p.Arg31781_Val31782insTer)
|
rs2469025705
|
|
NM_001267550.2(TTN):c.95443del (p.Glu31815fs)
|
|
|
NM_001267550.2(TTN):c.95452_95453delinsATATGCCAT (p.Gly31818fs)
|
rs2469015635
|
|
NM_001267550.2(TTN):c.95526C>G (p.Tyr31842Ter)
|
|
|
NM_001267550.2(TTN):c.9565C>T (p.Gln3189Ter)
|
rs768694953
|
|
NM_001267550.2(TTN):c.95723-2A>C
|
rs2154144335
|
|
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)
|
rs746115846
|
|
NM_001267550.2(TTN):c.95829_95830insG (p.Tyr31944fs)
|
rs2468967933
|
|
NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter)
|
rs2154144218
|
|
NM_001267550.2(TTN):c.95944del (p.Ser31982fs)
|
rs2468964807
|
|
NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs)
|
rs1553518529
|
|
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs)
|
rs2154143867
|
|
NM_001267550.2(TTN):c.96477C>A (p.Cys32159Ter)
|
rs2468932834
|
|
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)
|
rs2154143423
|
|
NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)
|
rs2468927529
|
|
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs)
|
rs2154143418
|
|
NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer)
|
rs2154143307
|
|
NM_001267550.2(TTN):c.96853del (p.Val32285fs)
|
|
|
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs)
|
rs1064793419
|
|
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs)
|
rs748382770
|
|
NM_001267550.2(TTN):c.97212dup (p.Gly32405fs)
|
rs2468893752
|
|
NM_001267550.2(TTN):c.9727C>T (p.Gln3243Ter)
|
rs869312093
|
|
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter)
|
rs767837705
|
|
NM_001267550.2(TTN):c.97405_97408del (p.Glu32469fs)
|
rs2468887529
|
|
NM_001267550.2(TTN):c.97405_97410delinsAC (p.Glu32469fs)
|
rs1553515430
|
|
NM_001267550.2(TTN):c.97492+1G>C
|
rs727505319
|
|
NM_001267550.2(TTN):c.9751C>T (p.Gln3251Ter)
|
|
|
NM_001267550.2(TTN):c.97555_97558dup (p.Trp32520fs)
|
rs1575386270
|
|
NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer)
|
rs2154141588
|
|
NM_001267550.2(TTN):c.97653del (p.Val32552fs)
|
rs2468846150
|
|
NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter)
|
rs1301441435
|
|
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
|
rs879097896
|
|
NM_001267550.2(TTN):c.98072del (p.Gly32691fs)
|
rs2468791370
|
|
NM_001267550.2(TTN):c.98074del (p.Thr32692fs)
|
rs2468791271
|
|
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)
|
rs727504679
|
|
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs)
|
rs1275153634
|
|
NM_001267550.2(TTN):c.98245del (p.Ala32749fs)
|
rs2468778141
|
|
NM_001267550.2(TTN):c.9829C>T (p.Gln3277Ter)
|
rs2532188334
|
|
NM_001267550.2(TTN):c.98628del (p.Phe32876fs)
|
rs2468765145
|
|
NM_001267550.2(TTN):c.98923C>T (p.Gln32975Ter)
|
rs2468746262
|
|
NM_001267550.2(TTN):c.98989+1G>A
|
rs112240298
|
|
NM_001267550.2(TTN):c.99023_99026del (p.Leu33008fs)
|
rs2468737336
|
|
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter)
|
rs771511344
|
|
NM_001267550.2(TTN):c.99041del (p.Ser33014fs)
|
rs2154139357
|
|
NM_001267550.2(TTN):c.99081dup (p.Lys33028Ter)
|
rs2468735181
|
|
NM_001267550.2(TTN):c.99425_99428del (p.Ile33142fs)
|
rs2468684173
|
|
NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter)
|
rs886038825
|
|
NM_001267550.2(TTN):c.9951del (p.Asp3316_Tyr3317insTer)
|
rs2532184386
|
|
NM_001267550.2(TTN):c.99571C>T (p.Gln33191Ter)
|
rs2468679007
|
|
NM_001267550.2(TTN):c.99613A>T (p.Lys33205Ter)
|
rs2468677363
|
|
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter)
|
rs794727539
|
|
NM_001267550.2(TTN):c.9979_9980del (p.Val3328fs)
|
rs2532183675
|
|
NM_001267550.2(TTN):c.99859dup (p.Ile33287fs)
|
rs2468668527
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys)
|
rs397516465
|
|
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)
|
rs397516466
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.456T>G (p.Asn152Lys)
|
rs1659262013
|
|
NM_001276345.2(TNNT2):c.493G>T (p.Glu165Ter)
|
rs1558225837
|
|
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)
|
rs727504246
|
|
NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys)
|
rs376923877
|
|
NM_001276345.2(TNNT2):c.851+1G>A
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.851+1G>C
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)
|
rs397516484
|
|
NM_001281740.3(FHOD3):c.1646+1G>C
|
|
|
NM_001281740.3(FHOD3):c.1646G>A (p.Ser549Asn)
|
|
|
NM_001367624.2(ZNF469):c.9915del (p.Arg3306fs)
|
|
|
NM_001371904.1(APOA5):c.154G>T (p.Glu52Ter)
|
rs755144803
|
|
NM_001371904.1(APOA5):c.466G>T (p.Glu156Ter)
|
rs761704440
|
|
NM_001371904.1(APOA5):c.494dup (p.Val166fs)
|
rs764366547
|
|
NM_001371904.1(APOA5):c.795del (p.Thr266fs)
|
rs1341621315
|
|
NM_001371904.1(APOA5):c.990_993del (p.Asp332fs)
|
rs774150500
|
|
NM_001378454.1(ALMS1):c.10214-2A>G
|
rs2104063527
|
|
NM_001378454.1(ALMS1):c.11547+1G>T
|
rs1553418638
|
|
NM_001378454.1(ALMS1):c.12114+1G>A
|
rs376719320
|
|
NM_001378454.1(ALMS1):c.1432+1G>T
|
rs1553401634
|
|
NM_001378454.1(ALMS1):c.1432+2_1432+15del
|
rs1203193062
|
|
NM_001378454.1(ALMS1):c.31G>T (p.Glu11Ter)
|
rs2465969801
|
|
NM_001378454.1(ALMS1):c.451-2A>G
|
rs2466035962
|
|
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser)
|
rs1664632655
|
|
NM_001458.5(FLNC):c.1210+1G>A
|
|
|
NM_001458.5(FLNC):c.1549+2T>G
|
rs111806457
|
|
NM_001458.5(FLNC):c.1677-1G>C
|
rs2536627048
|
|
NM_001458.5(FLNC):c.2160del (p.Asn721fs)
|
rs2536630380
|
|
NM_001458.5(FLNC):c.2293G>T (p.Glu765Ter)
|
|
|
NM_001458.5(FLNC):c.2550+1G>C
|
rs1474115309
|
|
NM_001458.5(FLNC):c.2550+2T>C
|
rs113972676
|
|
NM_001458.5(FLNC):c.2811+1G>A
|
rs2128936028
|
|
NM_001458.5(FLNC):c.2830del (p.Thr943_Val944insTer)
|
|
|
NM_001458.5(FLNC):c.2930-1G>A
|
rs2536635253
|
|
NM_001458.5(FLNC):c.4457-1G>T
|
rs1404524040
|
|
NM_001458.5(FLNC):c.4952-2A>T
|
rs774945928
|
|
NM_001458.5(FLNC):c.5685del (p.Val1896fs)
|
rs1808809268
|
|
NM_001458.5(FLNC):c.6931G>T (p.Glu2311Ter)
|
|
|
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg)
|
rs867808948
|
|
NM_001458.5(FLNC):c.7385-2A>G
|
|
|
NM_001458.5(FLNC):c.8034del (p.Cys2679fs)
|
|
|
NM_001613.4(ACTA2):c.130-2del
|
|
|
NM_001927.4(DES):c.1202A>G (p.Glu401Gly)
|
rs1954444202
|
|
NM_001927.4(DES):c.1203G>C (p.Glu401Asp)
|
rs2125168897
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
NM_001943.5(DSG2):c.2001+1G>T
|
rs2510920042
|
|
NM_001943.5(DSG2):c.216+1G>T
|
rs1316380114
|
|
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)
|
rs121913010
|
|
NM_001943.5(DSG2):c.2551del (p.Ile851fs)
|
rs763907170
|
|
NM_001943.5(DSG2):c.2617C>T (p.Gln873Ter)
|
rs765347389
|
|
NM_001943.5(DSG2):c.2620del (p.Thr874fs)
|
rs755243947
|
|
NM_001943.5(DSG2):c.2955del (p.Val986fs)
|
rs1064794709
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.523+1G>A
|
rs553299589
|
|
NM_002294.3(LAMP2):c.183+1G>A
|
rs727503120
|
|
NM_002294.3(LAMP2):c.741+1G>A
|
rs1251075016
|
|
NM_002317.7(LOX):c.139C>T (p.Gln47Ter)
|
rs2532918093
|
|
NM_002317.7(LOX):c.295_299dup (p.Ala101fs)
|
rs2532917277
|
|
NM_002317.7(LOX):c.604G>T (p.Gly202Ter)
|
rs1473260982
|
|
NM_002317.7(LOX):c.625del (p.Gln209fs)
|
rs756849358
|
|
NM_002524.5(NRAS):c.38G>T (p.Gly13Val)
|
rs121434596
|
|
NM_002709.3(PPP1CB):c.755A>G (p.Asp252Gly)
|
rs2465753864
|
|
NM_002834.5(PTPN11):c.1507G>T (p.Gly503Trp)
|
|
|
NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys)
|
rs397507507
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)
|
rs397507530
|
|
NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly)
|
rs730881002
|
|
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)
|
rs80338799
|
|
NM_002880.4(RAF1):c.524A>G (p.His175Arg)
|
rs397516822
|
|
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile)
|
rs869025501
|
|
NM_002880.4(RAF1):c.782C>A (p.Pro261His)
|
rs397516828
|
|
NM_002880.4(RAF1):c.788T>C (p.Val263Ala)
|
rs397516830
|
|
NM_002890.3(RASA1):c.1454-11_1454-7del
|
rs60835976
|
|
NM_002890.3(RASA1):c.2011+1G>C
|
rs2531342144
|
|
NM_002890.3(RASA1):c.2925+1dup
|
rs1762098966
|
|
NM_003242.6(TGFBR2):c.1061_1063delinsCCC (p.Leu354_Ala355delinsProPro)
|
|
|
NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs)
|
rs1559472349
|
|
NM_003319.4(TTN):c.12525dup (p.Asn4176Ter)
|
rs876657673
|
|
NM_003319.4(TTN):c.22101_22120del (p.Val7368fs)
|
rs727504825
|
|
NM_003319.4(TTN):c.45637dup (p.Thr15213fs)
|
rs876657669
|
|
NM_003319.4(TTN):c.69998_70007del10
|
rs2468894140
|
|
NM_003319.4(TTN):c.80003_80028+4del
|
rs1553479603
|
|
NM_003319.4:c.42742_42743insALU
|
|
|
NM_003319.4:c.42743_42744insALU
|
|
|
NM_003319.4:c.58067_58068insALU
|
|
|
NM_003476.5(CSRP3):c.414+1G>T
|
rs935867046
|
|
NM_003673.4(TCAP):c.110_110+1dup
|
rs786205076
|
|
NM_004006.2:c.(357+1_358-1)_(2949+1_2950-1)del
|
|
|
NM_004006.2:c.(6438+1_6439-1)_(7542+1_7543-1)del
|
|
|
NM_004006.3(DMD):c.1483-1534_1565del
|
|
|
NM_004006.3(DMD):c.31+36947G>A
|
rs886042106
|
|
NM_004006.3(DMD):c.3432+2036A>G
|
rs182575709
|
|
NM_004006.3(DMD):c.5586+1G>T
|
|
|
NM_004006.3(DMD):c.6136C>T (p.Gln2046Ter)
|
rs2148457829
|
|
NM_004006.3(DMD):c.9974+1G>A
|
|
|
NM_004100.5(EYA4):c.1839+1G>A
|
rs768710868
|
|
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter)
|
rs1846844070
|
|
NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter)
|
rs117749531
|
|
NM_004281.4(BAG3):c.1306G>T (p.Glu436Ter)
|
rs2494023702
|
|
NM_004281.4(BAG3):c.1326del (p.Phe442fs)
|
|
|
NM_004281.4(BAG3):c.1417C>T (p.Arg473Ter)
|
rs199682693
|
|
NM_004281.4(BAG3):c.1440_1450del (p.Arg480fs)
|
rs2494024121
|
|
NM_004281.4(BAG3):c.568_577del (p.Ser190fs)
|
rs1847161579
|
|
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)
|
rs1554875409
|
|
NM_004281.4(BAG3):c.910C>T (p.Gln304Ter)
|
rs2134068635
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg)
|
rs397516904
|
|
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs)
|
rs2113906336
|
|
NM_004387.4(NKX2-5):c.646del (p.Arg216fs)
|
rs2480072423
|
|
NM_004387.4(NKX2-5):c.668_690del (p.Leu223fs)
|
|
|
NM_004415.2:c.3564_3565insALU
|
|
|
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter)
|
rs1057523045
|
|
NM_004415.4(DSP):c.170+1G>A
|
rs1309931610
|
|
NM_004415.4(DSP):c.1802_1851dup (p.His618fs)
|
|
|
NM_004415.4(DSP):c.1891C>T (p.Gln631Ter)
|
|
|
NM_004415.4(DSP):c.1903+5G>T
|
|
|
NM_004415.4(DSP):c.2437-1G>C
|
rs1057517903
|
|
NM_004415.4(DSP):c.250_273+1del
|
rs2533842462
|
|
NM_004415.4(DSP):c.2630+1del
|
rs1554107651
|
|
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter)
|
rs1581815654
|
|
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs)
|
rs1554108929
|
|
NM_004415.4(DSP):c.7103dup (p.Leu2368fs)
|
|
|
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg)
|
rs376923069
|
|
NM_004415.4(DSP):c.7212dup (p.Leu2405fs)
|
|
|
NM_004415.4(DSP):c.7346del (p.Lys2449fs)
|
rs2533945316
|
|
NM_004415.4(DSP):c.7418_7425dup (p.Glu2476fs)
|
rs2533945755
|
|
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del)
|
rs1473818298
|
|
NM_004415.4(DSP):c.778-2A>G
|
rs113726158
|
|
NM_004415.4(DSP):c.7780dup (p.Ser2594fs)
|
rs397514045
|
|
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter)
|
rs879254353
|
|
NM_004415.4(DSP):c.8188del (p.Gln2730fs)
|
rs886038929
|
|
NM_004415.4(DSP):c.868G>A (p.Glu290Lys)
|
rs397516974
|
|
NM_004415.4(DSP):c.877G>A (p.Glu293Lys)
|
rs876657799
|
|
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)
|
rs111854391
|
|
NM_004612.4(TGFBR1):c.958A>T (p.Ile320Phe)
|
rs760419678
|
|
NM_004985.5(KRAS):c.350A>C (p.Lys117Thr)
|
rs2141506236
|
|
NM_005159.5(ACTC1):c.148G>A (p.Gly50Ser)
|
rs1555418921
|
|
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr)
|
rs1555418793
|
|
NM_005188.4(CBL):c.1109_1111dup (p.Leu370_Tyr371insLeu)
|
rs2496939296
|
|
NM_005502.4(ABCA1):c.6007G>A (p.Gly2003Arg)
|
|
|
NM_005502.4(ABCA1):c.6242G>A (p.Arg2081Gln)
|
|
|
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn)
|
rs397517150
|
|
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)
|
rs397517153
|
|
NM_005901.6(SMAD2):c.520+1G>A
|
|
|
NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr)
|
rs886038770
|
|
NM_005902.4(SMAD3):c.747del (p.His249fs)
|
|
|
NM_006073.4(TRDN):c.580G>T (p.Glu194Ter)
|
|
|
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)
|
rs267607277
|
|
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)
|
rs1673399238
|
|
NM_006912.6(RIT1):c.259G>A (p.Asp87Asn)
|
rs886041414
|
|
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)
|
rs869312687
|
|
NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly)
|
rs1344304906
|
|
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)
|
rs730881020
|
|
NM_014000.2:c.2298_(3258+1_3259-1)dup
|
|
|
NM_014908.4(DOLK):c.1275del (p.Cys426fs)
|
rs1401485925
|
|
NM_014908.4(DOLK):c.132G>A (p.Trp44Ter)
|
|
|
NM_015627.3(LDLRAP1):c.748-608G>A
|
rs2524136302
|
|
NM_016194.4(GNB5):c.154G>T (p.Glu52Ter)
|
rs1332666675
|
|
NM_016203.4(PRKAG2):c.1149C>G (p.His383Gln)
|
|
|
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro)
|
rs121908987
|
|
NM_016938.5(EFEMP2):c.1171-2_1195del
|
rs1859863045
|
|
NM_017636.4(TRPM4):c.1127T>C (p.Ile376Thr)
|
rs2122839457
|
|
NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer)
|
rs753775062
|
|
NM_018699.4(PRDM5):c.1666C>T (p.Gln556Ter)
|
rs2529843313
|
|
NM_018699.4(PRDM5):c.243del (p.Trp81fs)
|
rs771708843
|
|
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys)
|
rs387907228
|
|
NM_020297.4(ABCC9):c.632T>G (p.Leu211Arg)
|
rs2541736804
|
|
NM_020745.4(AARS2):c.104del (p.Pro35fs)
|
rs758814921
|
|
NM_020745.4(AARS2):c.2230_2239delinsTCCCAC (p.Thr744fs)
|
|
|
NM_020778.4:c.(788+1_789-1)_(910+1_911-1)del
|
|
|
NM_020778.4:c.1178_1179insALU
|
|
|
NM_020778.5(ALPK3):c.-25dup
|
rs2505689036
|
|
NM_020778.5(ALPK3):c.1009C>T (p.Gln337Ter)
|
rs1567089714
|
|
NM_020778.5(ALPK3):c.1417dup (p.Gln473fs)
|
rs769139957
|
|
NM_020778.5(ALPK3):c.143+1G>A
|
rs2505689457
|
|
NM_020778.5(ALPK3):c.1438del (p.Arg480fs)
|
rs1963653131
|
|
NM_020778.5(ALPK3):c.2464C>T (p.Gln822Ter)
|
rs1173256548
|
|
NM_020778.5(ALPK3):c.2920G>T (p.Glu974Ter)
|
rs2505720978
|
|
NM_020778.5(ALPK3):c.3313del (p.Ala1105fs)
|
rs2505721718
|
|
NM_020778.5(ALPK3):c.3649_3662dup (p.Ser1222fs)
|
rs2505722576
|
|
NM_020778.5(ALPK3):c.3818-1G>C
|
rs2505723818
|
|
NM_020778.5(ALPK3):c.3818-1del
|
rs2505723820
|
|
NM_020778.5(ALPK3):c.3947_3954dup (p.Val1319fs)
|
rs2505724060
|
|
NM_020778.5(ALPK3):c.423-18_444del
|
rs2505704683
|
|
NM_020778.5(ALPK3):c.4499+1G>A
|
rs2505728562
|
|
NM_020778.5(ALPK3):c.4582G>T (p.Glu1528Ter)
|
rs1380478280
|
|
NM_020778.5(ALPK3):c.4641dup (p.Glu1548Ter)
|
rs2505729802
|
|
NM_020778.5(ALPK3):c.571_581dup (p.Glu195fs)
|
rs2141556264
|
|
NM_020778.5(ALPK3):c.678_685dup (p.Gly229delinsAspTer)
|
rs1963639299
|
|
NM_020778.5(ALPK3):c.680T>A (p.Leu227Ter)
|
rs2141556463
|
|
NM_020778.5(ALPK3):c.690_697del (p.Gln231fs)
|
rs750622312
|
|
NM_020778.5(ALPK3):c.751C>T (p.Gln251Ter)
|
rs1963641493
|
|
NM_020778.5(ALPK3):c.801_810delinsACCTGA (p.Asn267fs)
|
rs2505705477
|
|
NM_020778.5:c.(304+1_305-1)_(422+1_423-1)del
|
|
|
NM_022436.3(ABCG5):c.1325-1G>T
|
rs768019354
|
|
NM_022436.3(ABCG5):c.774+2T>G
|
|
|
NM_022437.3(ABCG8):c.923G>T (p.Gly308Val)
|
|
|
NM_022773.4(LMF1):c.1024C>T (p.Arg342Ter)
|
rs776584760
|
|
NM_024301.5(FKRP):c.1016G>A (p.Arg339His)
|
rs1450841129
|
|
NM_024301.5(FKRP):c.109dup (p.Arg37fs)
|
|
|
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)
|
rs2513999711
|
|
NM_024301.5(FKRP):c.1415del (p.Lys472fs)
|
rs1555739280
|
|
NM_024301.5(FKRP):c.686del (p.Arg229fs)
|
rs1555738686
|
|
NM_024422.6(DSC2):c.1521-1G>A
|
rs886039128
|
|
NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter)
|
rs963715928
|
|
NM_024422.6(DSC2):c.2250+1G>T
|
|
|
NM_024422.6(DSC2):c.354+2T>A
|
rs2510955933
|
|
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer)
|
rs397517408
|
|
NM_032588.4(TRIM63):c.713del (p.Lys238fs)
|
|
|
NM_152594.3(SPRED1):c.1075_1076insAGTA (p.Ile359fs)
|
rs2542743815
|
|
NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln)
|
rs1057518150
|
|
NM_170707.3:c.(?_-1)_(513+1_514-1)del
|
|
|
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro)
|
|
|
NM_170707.4(LMNA):c.1142_1157+1del
|
rs1553265755
|
|
NM_170707.4(LMNA):c.1381-1G>A
|
rs2528006468
|
|
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)
|
rs28928902
|
|
NM_170707.4(LMNA):c.1489-1G>A
|
rs1231097123
|
|
NM_170707.4(LMNA):c.1489-2A>G
|
rs879254081
|
|
NM_170707.4(LMNA):c.1569del (p.Asn524fs)
|
|
|
NM_170707.4(LMNA):c.1608+2T>G
|
rs2102896324
|
|
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.1622G>T (p.Arg541Leu)
|
|
|
NM_170707.4(LMNA):c.1698+1G>C
|
rs1553266337
|
|
NM_170707.4(LMNA):c.215G>A (p.Arg72His)
|
rs727504340
|
|
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu)
|
rs59040894
|
|
NM_170707.4(LMNA):c.449C>T (p.Thr150Ile)
|
rs869069617
|
|
NM_170707.4(LMNA):c.455T>C (p.Leu152Pro)
|
rs2527936976
|
|
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)
|
rs267607570
|
|
NM_170707.4(LMNA):c.513+2T>G
|
rs1553264668
|
|
NM_170707.4(LMNA):c.514-2A>G
|
|
|
NM_170707.4(LMNA):c.604G>T (p.Glu202Ter)
|
rs2527968047
|
|
NM_170707.4(LMNA):c.629T>G (p.Ile210Ser)
|
rs267607572
|
|
NM_170707.4(LMNA):c.639+1G>T
|
rs869125101
|
|
NM_170707.4(LMNA):c.640-10A>G
|
rs80356807
|
|
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)
|
rs61295588
|
|
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)
|
rs58327533
|
|
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del)
|
rs58978449
|
|
NM_170707.4(LMNA):c.799T>C (p.Tyr267His)
|
rs267607593
|
|
NM_170707.4(LMNA):c.811-1G>A
|
rs1365042239
|
|
NM_170707.4(LMNA):c.937-1G>A
|
rs1553265606
|
|
NM_170707.4(LMNA):c.937-2A>G
|
rs2527988932
|
|
NM_174936.4(PCSK9):c.1120G>C (p.Asp374His)
|
rs137852912
|
|
NM_174936.4(PCSK9):c.644G>A (p.Arg215His)
|
rs794728683
|
|
NM_176869.3(PPA2):c.611T>A (p.Leu204Ter)
|
rs371147281
|
|
NM_181486.4(TBX5):c.1202G>A (p.Trp401Ter)
|
rs2540425164
|
|
NM_181486.4(TBX5):c.1485del (p.Thr496fs)
|
rs2540424549
|
|
NM_181486.4(TBX5):c.362+2T>C
|
rs1593881162
|
|
NM_181486.4(TBX5):c.982+2T>G
|
rs2136373205
|
|
NM_198060.4(NRAP):c.3099G>A (p.Trp1033Ter)
|
rs199673219
|
|
NM_198060.4(NRAP):c.4197G>A (p.Trp1399Ter)
|
rs777578966
|
|