NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)
|
rs144383241
|
0.00222
|
NM_024664.4(PPCS):c.792G>C (p.Gln264His)
|
rs61745591
|
0.00197
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
NM_000018.4(ACADVL):c.1678+23C>T
|
rs147546456
|
0.00163
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)
|
rs141671123
|
0.00106
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)
|
rs139425622
|
0.00066
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala)
|
rs772684721
|
0.00023
|
NM_182961.4(SYNE1):c.26154-2590C>G
|
rs767099068
|
0.00022
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)
|
rs202040519
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln)
|
rs200191311
|
0.00016
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)
|
rs139679692
|
0.00016
|
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)
|
rs780768015
|
0.00015
|
NM_006767.4(LZTR1):c.594-3C>T
|
rs373968693
|
0.00015
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys)
|
rs774710219
|
0.00014
|
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)
|
rs146320179
|
0.00014
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_001122630.2(CDKN1C):c.-10-5C>T
|
rs374634184
|
0.00013
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg)
|
rs765282250
|
0.00012
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)
|
rs364897
|
0.00011
|
NM_001267550.2(TTN):c.20485G>A (p.Gly6829Ser)
|
rs139549363
|
0.00011
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00011
|
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
|
rs149761650
|
0.00010
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)
|
rs375482798
|
0.00010
|
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)
|
rs397517662
|
0.00010
|
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)
|
rs150419186
|
0.00010
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_001267550.2(TTN):c.40082T>A (p.Ile13361Asn)
|
rs568151115
|
0.00009
|
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)
|
rs397517746
|
0.00009
|
NM_002471.4(MYH6):c.4651-3C>A
|
rs572175190
|
0.00009
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val)
|
rs201068049
|
0.00009
|
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe)
|
rs1026930115
|
0.00009
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro)
|
rs375194444
|
0.00008
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00008
|
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu)
|
rs149367009
|
0.00008
|
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)
|
rs375576259
|
0.00008
|
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln)
|
rs763908636
|
0.00008
|
NM_182914.3(SYNE2):c.16905+4A>C
|
rs369093036
|
0.00008
|
NM_182914.3(SYNE2):c.3889A>G (p.Met1297Val)
|
rs368642506
|
0.00008
|
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp)
|
rs377410590
|
0.00008
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)
|
rs752492870
|
0.00007
|
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys)
|
rs371908649
|
0.00007
|
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)
|
rs796051964
|
0.00007
|
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)
|
rs142218590
|
0.00007
|
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)
|
rs201850378
|
0.00007
|
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)
|
rs775537775
|
0.00006
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000157.4(GBA1):c.84dup (p.Leu29fs)
|
rs387906315
|
0.00006
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_000337.6(SGCD):c.659C>T (p.Thr220Ile)
|
rs1471128348
|
0.00006
|
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)
|
rs184709702
|
0.00006
|
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)
|
rs370331492
|
0.00006
|
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr)
|
rs377204776
|
0.00006
|
NM_001122630.2(CDKN1C):c.458C>T (p.Pro153Leu)
|
rs1315960524
|
0.00006
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr)
|
rs200724395
|
0.00006
|
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala)
|
rs373509391
|
0.00006
|
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)
|
rs398124152
|
0.00006
|
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)
|
rs779598020
|
0.00006
|
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser)
|
rs368649599
|
0.00006
|
NM_014000.3(VCL):c.592G>A (p.Val198Met)
|
rs760340545
|
0.00006
|
NM_078470.6(COX15):c.1015G>A (p.Val339Met)
|
rs141830307
|
0.00006
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr)
|
rs201226974
|
0.00005
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr)
|
rs1282623859
|
0.00005
|
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)
|
rs772325115
|
0.00005
|
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr)
|
rs764164607
|
0.00005
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
NM_182914.3(SYNE2):c.15073A>G (p.Thr5025Ala)
|
rs527550049
|
0.00005
|
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys)
|
rs141278167
|
0.00005
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)
|
rs771025937
|
0.00004
|
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)
|
rs200117742
|
0.00004
|
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)
|
rs754202690
|
0.00004
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000231.3(SGCG):c.195+1G>C
|
rs200502077
|
0.00004
|
NM_000232.5(SGCB):c.1_2del (p.Met1fs)
|
rs886042503
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
NM_000256.3(MYBPC3):c.3330+2T>G
|
rs387906397
|
0.00004
|
NM_001122630.2(CDKN1C):c.316C>T (p.Pro106Ser)
|
rs570636789
|
0.00004
|
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)
|
rs368945564
|
0.00004
|
NM_001267550.2(TTN):c.10690G>C (p.Asp3564His)
|
rs371708823
|
0.00004
|
NM_001267550.2(TTN):c.31821G>T (p.Lys10607Asn)
|
rs746722623
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val)
|
rs202090888
|
0.00004
|
NM_003673.4(TCAP):c.460C>T (p.Arg154Cys)
|
rs755539784
|
0.00004
|
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg)
|
rs370291114
|
0.00004
|
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)
|
rs750327309
|
0.00004
|
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr)
|
rs1042170
|
0.00004
|
NM_004168.4(SDHA):c.1930G>A (p.Val644Met)
|
rs3211483
|
0.00004
|
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys)
|
rs375396913
|
0.00004
|
NM_004168.4(SDHA):c.448G>A (p.Val150Met)
|
rs542980860
|
0.00004
|
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)
|
rs147014102
|
0.00004
|
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)
|
rs398124151
|
0.00004
|
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)
|
rs558005496
|
0.00004
|
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)
|
rs746598421
|
0.00004
|
NM_004453.4(ETFDH):c.1657T>C (p.Tyr553His)
|
rs182913453
|
0.00004
|
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00004
|
NM_004453.4(ETFDH):c.406-1G>A
|
rs750189181
|
0.00004
|
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)
|
rs762928354
|
0.00004
|
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)
|
rs780015493
|
0.00004
|
NM_005138.3(SCO2):c.157C>T (p.Gln53Ter)
|
rs74315510
|
0.00004
|
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)
|
rs749465164
|
0.00004
|
NM_020778.5(ALPK3):c.322G>A (p.Val108Met)
|
rs151295172
|
0.00004
|
NM_144573.4(NEXN):c.370G>A (p.Glu124Lys)
|
rs372745590
|
0.00004
|
NM_182961.4(SYNE1):c.1453A>G (p.Met485Val)
|
rs767978898
|
0.00004
|
NM_182961.4(SYNE1):c.5417A>G (p.His1806Arg)
|
rs779891217
|
0.00004
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)
|
rs118204018
|
0.00003
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)
|
rs398123085
|
0.00003
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)
|
rs119458971
|
0.00003
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)
|
rs759292700
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)
|
rs374591570
|
0.00003
|
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)
|
rs381418
|
0.00003
|
NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr)
|
rs534553558
|
0.00003
|
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser)
|
rs958717402
|
0.00003
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)
|
rs397515907
|
0.00003
|
NM_000256.3(MYBPC3):c.1624+4A>T
|
rs397515916
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys)
|
rs45511396
|
0.00003
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly)
|
rs374306538
|
0.00003
|
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)
|
rs773748242
|
0.00003
|
NM_001122630.2(CDKN1C):c.317C>G (p.Pro106Arg)
|
rs945890937
|
0.00003
|
NM_001267550.2(TTN):c.105680C>T (p.Ala35227Val)
|
rs794727541
|
0.00003
|
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)
|
rs886042995
|
0.00003
|
NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser)
|
rs727505333
|
0.00003
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
NM_001386795.1(DTNA):c.1637G>A (p.Arg546Gln)
|
rs773504046
|
0.00003
|
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)
|
rs758509148
|
0.00003
|
NM_002471.4(MYH6):c.1088T>C (p.Met363Thr)
|
rs150272218
|
0.00003
|
NM_002471.4(MYH6):c.2615G>A (p.Arg872His)
|
rs773162706
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_003476.5(CSRP3):c.287C>T (p.Pro96Leu)
|
rs766783066
|
0.00003
|
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)
|
rs150326789
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys)
|
rs778737664
|
0.00003
|
NM_004168.4(SDHA):c.512G>A (p.Arg171His)
|
rs587782076
|
0.00003
|
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)
|
rs373340696
|
0.00003
|
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)
|
rs61754481
|
0.00003
|
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr)
|
rs774160524
|
0.00003
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00003
|
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg)
|
rs369711837
|
0.00003
|
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)
|
rs751821289
|
0.00003
|
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)
|
rs377656387
|
0.00003
|
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)
|
rs767795266
|
0.00003
|
NM_004453.4(ETFDH):c.405+3A>T
|
rs796051965
|
0.00003
|
NM_005138.3(SCO2):c.281T>C (p.Leu94Pro)
|
rs138294250
|
0.00003
|
NM_005138.3(SCO2):c.535C>T (p.Arg179Cys)
|
rs780314255
|
0.00003
|
NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp)
|
rs757502214
|
0.00003
|
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)
|
rs1390048261
|
0.00003
|
NM_182961.4(SYNE1):c.10284G>T (p.Met3428Ile)
|
rs755180412
|
0.00003
|
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile)
|
rs201487756
|
0.00003
|
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)
|
rs779458466
|
0.00002
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)
|
rs138058572
|
0.00002
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)
|
rs1231343685
|
0.00002
|
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)
|
rs766192888
|
0.00002
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000023.4(SGCA):c.197T>A (p.Leu66His)
|
rs767928766
|
0.00002
|
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)
|
rs199763682
|
0.00002
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)
|
rs121907942
|
0.00002
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)
|
rs764670084
|
0.00002
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)
|
rs1344266804
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)
|
rs1264734195
|
0.00002
|
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)
|
rs137852771
|
0.00002
|
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)
|
rs1240187200
|
0.00002
|
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)
|
rs752317877
|
0.00002
|
NM_000231.3(SGCG):c.386-1G>A
|
rs913248720
|
0.00002
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
NM_000257.4(MYH7):c.706G>A (p.Val236Ile)
|
rs397516261
|
0.00002
|
NM_000363.5(TNNI3):c.347C>G (p.Ala116Gly)
|
rs777177571
|
0.00002
|
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)
|
rs767987619
|
0.00002
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser)
|
rs1429464723
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_001122630.2(CDKN1C):c.827C>T (p.Ser276Leu)
|
rs928007699
|
0.00002
|
NM_001161417.2(GPR17):c.988G>A (p.Glu330Lys)
|
rs562945179
|
0.00002
|
NM_001267550.2(TTN):c.2662G>A (p.Asp888Asn)
|
rs759686739
|
0.00002
|
NM_001267550.2(TTN):c.5889A>C (p.Lys1963Asn)
|
rs897521028
|
0.00002
|
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser)
|
rs727503576
|
0.00002
|
NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala)
|
rs765064363
|
0.00002
|
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)
|
rs104894678
|
0.00002
|
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)
|
rs111033560
|
0.00002
|
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr)
|
rs376597185
|
0.00002
|
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp)
|
rs1355851620
|
0.00002
|
NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg)
|
rs770028533
|
0.00002
|
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)
|
rs781747137
|
0.00002
|
NM_004168.4(SDHA):c.1580G>A (p.Arg527His)
|
rs766352407
|
0.00002
|
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn)
|
rs769882609
|
0.00002
|
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met)
|
rs775350508
|
0.00002
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
NM_004168.4(SDHA):c.464A>G (p.Asn155Ser)
|
rs749824479
|
0.00002
|
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu)
|
rs759827541
|
0.00002
|
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)
|
rs761669036
|
0.00002
|
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)
|
rs767249944
|
0.00002
|
NM_005138.3(SCO2):c.512G>A (p.Arg171Gln)
|
rs775173963
|
0.00002
|
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe)
|
rs143912947
|
0.00002
|
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys)
|
rs778626874
|
0.00002
|
NM_007078.3(LDB3):c.1696A>G (p.Met566Val)
|
rs775232208
|
0.00002
|
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys)
|
rs570116954
|
0.00002
|
NM_182961.4(SYNE1):c.11002G>A (p.Glu3668Lys)
|
rs767544504
|
0.00002
|
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu)
|
rs149940427
|
0.00002
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)
|
rs1567565733
|
0.00001
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)
|
rs1057523504
|
0.00001
|
NM_000018.4(ACADVL):c.1182+3G>T
|
rs376281637
|
0.00001
|
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)
|
rs149116708
|
0.00001
|
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)
|
rs1451455641
|
0.00001
|
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)
|
rs765356942
|
0.00001
|
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)
|
rs533055438
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)
|
rs794727113
|
0.00001
|
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)
|
rs1175359422
|
0.00001
|
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)
|
rs118204017
|
0.00001
|
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)
|
rs766742117
|
0.00001
|
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)
|
rs200366828
|
0.00001
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)
|
rs398123083
|
0.00001
|
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)
|
rs759775666
|
0.00001
|
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)
|
rs200771970
|
0.00001
|
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)
|
rs1555529088
|
0.00001
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
NM_000018.4(ACADVL):c.342+18G>A
|
rs372594520
|
0.00001
|
NM_000018.4(ACADVL):c.343-1G>A
|
rs1555527877
|
0.00001
|
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)
|
rs1057520088
|
0.00001
|
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)
|
rs1057516369
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)
|
rs763630981
|
0.00001
|
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)
|
rs398123090
|
0.00001
|
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)
|
rs748329498
|
0.00001
|
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)
|
rs140629318
|
0.00001
|
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)
|
rs746860401
|
0.00001
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)
|
rs786204536
|
0.00001
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
NM_000018.4(ACADVL):c.856A>G (p.Arg286Gly)
|
rs751556332
|
0.00001
|
NM_000018.4(ACADVL):c.878+1G>C
|
rs757946752
|
0.00001
|
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)
|
rs200573371
|
0.00001
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)
|
rs771247610
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000023.4(SGCA):c.157+1G>A
|
rs113109898
|
0.00001
|
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)
|
rs60407644
|
0.00001
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00001
|
NM_000126.4(ETFA):c.-40G>A
|
rs1057521597
|
0.00001
|
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser)
|
rs1166705959
|
0.00001
|
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)
|
rs727503918
|
0.00001
|
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)
|
rs119458969
|
0.00001
|
NM_000126.4(ETFA):c.625del (p.Arg209fs)
|
rs1209473816
|
0.00001
|
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)
|
rs766074609
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)
|
rs886042961
|
0.00001
|
NM_000152.5(GAA):c.1327-2A>G
|
rs1410829147
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)
|
rs749529161
|
0.00001
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)
|
rs1448515860
|
0.00001
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.2331+2T>A
|
rs1057517148
|
0.00001
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)
|
rs765718882
|
0.00001
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
NM_000152.5(GAA):c.692+5G>T
|
rs763027848
|
0.00001
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)
|
rs374306700
|
0.00001
|
NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp)
|
rs121908308
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
0.00001
|
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)
|
rs80356772
|
0.00001
|
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)
|
rs398123532
|
0.00001
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter)
|
rs1057516461
|
0.00001
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
NM_000182.5(HADHA):c.315-1G>A
|
rs1458898996
|
0.00001
|
NM_000231.3(SGCG):c.342dup (p.Ala115fs)
|
rs1262459682
|
0.00001
|
NM_000231.3(SGCG):c.385+2T>C
|
rs200206447
|
0.00001
|
NM_000231.3(SGCG):c.559del (p.Asp187fs)
|
rs1484553312
|
0.00001
|
NM_000231.3(SGCG):c.579-2A>G
|
rs754415994
|
0.00001
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000231.3(SGCG):c.87dup (p.Gly30fs)
|
rs762777463
|
0.00001
|
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)
|
rs779516489
|
0.00001
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter)
|
rs773554421
|
0.00001
|
NM_000232.5(SGCB):c.621+1G>T
|
rs1264362642
|
0.00001
|
NM_000232.5(SGCB):c.622-2A>G
|
rs780596734
|
0.00001
|
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr)
|
rs730880692
|
0.00001
|
NM_000256.3(MYBPC3):c.3112G>A (p.Val1038Met)
|
rs370223247
|
0.00001
|
NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp)
|
rs368973872
|
0.00001
|
NM_000256.3(MYBPC3):c.3491-2A>T
|
rs397516022
|
0.00001
|
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp)
|
rs730880619
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile)
|
rs201195256
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)
|
rs760187215
|
0.00001
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)
|
rs121909295
|
0.00001
|
NM_001005242.3(PKP2):c.837_838del (p.Val280fs)
|
rs772220644
|
0.00001
|
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)
|
rs1554761402
|
0.00001
|
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)
|
rs119463990
|
0.00001
|
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)
|
rs119463991
|
0.00001
|
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
|
rs746763506
|
0.00001
|
NM_001079802.2(FKTN):c.911-1G>A
|
rs958678700
|
0.00001
|
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)
|
rs119463992
|
0.00001
|
NM_001103.4(ACTN2):c.1393G>A (p.Ala465Thr)
|
rs371434667
|
0.00001
|
NM_001122630.2(CDKN1C):c.130G>T (p.Ala44Ser)
|
rs1013973901
|
0.00001
|
NM_001122630.2(CDKN1C):c.232G>A (p.Ala78Thr)
|
rs1177512372
|
0.00001
|
NM_001122630.2(CDKN1C):c.314G>T (p.Ser105Ile)
|
rs1197769841
|
0.00001
|
NM_001122630.2(CDKN1C):c.364C>T (p.Pro122Ser)
|
rs1192914687
|
0.00001
|
NM_001122630.2(CDKN1C):c.365C>T (p.Pro122Leu)
|
rs1590150577
|
0.00001
|
NM_001122630.2(CDKN1C):c.578C>T (p.Pro193Leu)
|
rs2583440
|
0.00001
|
NM_001122630.2(CDKN1C):c.679C>T (p.Leu227Phe)
|
rs878853640
|
0.00001
|
NM_001122630.2(CDKN1C):c.737C>G (p.Ala246Gly)
|
rs878853642
|
0.00001
|
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser)
|
rs773881541
|
0.00001
|
NM_001122630.2(CDKN1C):c.769T>A (p.Ser257Thr)
|
rs781340171
|
0.00001
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)
|
rs1393804220
|
0.00001
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
NM_001267550.2(TTN):c.14093-1G>A
|
rs869312099
|
0.00001
|
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)
|
rs772235481
|
0.00001
|
NM_001267550.2(TTN):c.25453A>G (p.Ile8485Val)
|
rs1560628327
|
0.00001
|
NM_001267550.2(TTN):c.30503C>T (p.Thr10168Met)
|
rs746275042
|
0.00001
|
NM_001267550.2(TTN):c.42872C>T (p.Ala14291Val)
|
rs746486506
|
0.00001
|
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln)
|
rs772498581
|
0.00001
|
NM_001267550.2(TTN):c.73416A>C (p.Lys24472Asn)
|
rs1239070012
|
0.00001
|
NM_001267550.2(TTN):c.74840G>A (p.Arg24947His)
|
rs765512476
|
0.00001
|
NM_001267550.2(TTN):c.80923C>A (p.Pro26975Thr)
|
rs1283579585
|
0.00001
|
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)
|
rs770038577
|
0.00001
|
NM_001267550.2(TTN):c.85328T>A (p.Val28443Asp)
|
rs1703365236
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)
|
rs760917372
|
0.00001
|
NM_001386795.1(DTNA):c.1352T>C (p.Leu451Pro)
|
rs2096416305
|
0.00001
|
NM_001458.5(FLNC):c.3791-1G>C
|
rs781135153
|
0.00001
|
NM_001927.4(DES):c.-7C>G
|
rs764966574
|
0.00001
|
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys)
|
rs369214871
|
0.00001
|
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)
|
rs148045813
|
0.00001
|
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)
|
rs772976948
|
0.00001
|
NM_001985.3(ETFB):c.58-87A>C
|
rs1986023015
|
0.00001
|
NM_002471.4(MYH6):c.493A>T (p.Met165Leu)
|
rs972242173
|
0.00001
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)
|
rs397507546
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_004006.3(DMD):c.1998A>G (p.Ser666=)
|
rs1289591017
|
0.00001
|
NM_004006.3(DMD):c.4048C>T (p.Arg1350Cys)
|
rs1278483491
|
0.00001
|
NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp)
|
rs760598746
|
0.00001
|
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys)
|
rs766779919
|
0.00001
|
NM_004168.4(SDHA):c.107C>T (p.Thr36Ile)
|
rs1440814662
|
0.00001
|
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser)
|
rs768055345
|
0.00001
|
NM_004168.4(SDHA):c.1340A>G (p.His447Arg)
|
rs779151375
|
0.00001
|
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp)
|
rs752461029
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_004168.4(SDHA):c.150+1G>A
|
rs1057523165
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val)
|
rs1445945083
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val)
|
rs367621815
|
0.00001
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
NM_004168.4(SDHA):c.1908+6T>C
|
rs1359050908
|
0.00001
|
NM_004168.4(SDHA):c.23C>G (p.Ser8Trp)
|
rs878854631
|
0.00001
|
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile)
|
rs756543943
|
0.00001
|
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)
|
rs775827529
|
0.00001
|
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr)
|
rs770407681
|
0.00001
|
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg)
|
rs764534044
|
0.00001
|
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)
|
rs940845256
|
0.00001
|
NM_004168.4(SDHA):c.869T>C (p.Leu290Pro)
|
rs1333787672
|
0.00001
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)
|
rs557241012
|
0.00001
|
NM_004415.4(DSP):c.2054G>C (p.Arg685Thr)
|
rs1212756552
|
0.00001
|
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)
|
rs779253471
|
0.00001
|
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)
|
rs200920510
|
0.00001
|
NM_004453.4(ETFDH):c.1690+1G>T
|
rs917285990
|
0.00001
|
NM_004453.4(ETFDH):c.176-2A>T
|
rs1485038306
|
0.00001
|
NM_004453.4(ETFDH):c.1809G>A (p.Trp603Ter)
|
rs796051960
|
0.00001
|
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln)
|
rs765742496
|
0.00001
|
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)
|
rs1172887273
|
0.00001
|
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val)
|
rs199899494
|
0.00001
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)
|
rs748289922
|
0.00001
|
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)
|
rs371260517
|
0.00001
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)
|
rs763541530
|
0.00001
|
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)
|
rs754082348
|
0.00001
|
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)
|
rs1235904433
|
0.00001
|
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr)
|
rs727504496
|
0.00001
|
NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly)
|
rs730881042
|
0.00001
|
NM_005633.4(SOS1):c.1681G>A (p.Glu561Lys)
|
rs1393222137
|
0.00001
|
NM_005633.4(SOS1):c.3352G>T (p.Asp1118Tyr)
|
rs1276062555
|
0.00001
|
NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile)
|
rs1342428273
|
0.00001
|
NM_006767.4(LZTR1):c.1254G>C (p.Arg418Ser)
|
rs746064505
|
0.00001
|
NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg)
|
rs1311281590
|
0.00001
|
NM_006767.4(LZTR1):c.59C>T (p.Ala20Val)
|
rs770762358
|
0.00001
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys)
|
rs375724784
|
0.00001
|
NM_007078.3(LDB3):c.1851T>C (p.Ile617=)
|
rs145402041
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln)
|
rs730880980
|
0.00001
|
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys)
|
rs748282723
|
0.00001
|
NM_020433.5(JPH2):c.962A>G (p.Asn321Ser)
|
rs373731005
|
0.00001
|
NM_020774.4(MIB1):c.2779+1G>C
|
rs570099048
|
0.00001
|
NM_020778.5(ALPK3):c.2470dup (p.Ser824fs)
|
rs1567093598
|
0.00001
|
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter)
|
rs794728075
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_032578.4(MYPN):c.1979C>T (p.Ser660Phe)
|
rs377257378
|
0.00001
|
NM_032578.4(MYPN):c.2051C>G (p.Ser684Cys)
|
rs577089308
|
0.00001
|
NM_078470.6(COX15):c.305G>A (p.Trp102Ter)
|
rs778412019
|
0.00001
|
NM_144573.4(NEXN):c.1739G>A (p.Gly580Glu)
|
rs560530481
|
0.00001
|
NM_144573.4(NEXN):c.991G>T (p.Glu331Ter)
|
rs533331740
|
0.00001
|
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg)
|
rs775693385
|
0.00001
|
NM_170707.4(LMNA):c.1304G>A (p.Arg435His)
|
rs1263919141
|
0.00001
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)
|
rs1016767319
|
0.00001
|
NM_182914.3(SYNE2):c.13826A>C (p.Asn4609Thr)
|
rs751525888
|
0.00001
|
NM_182914.3(SYNE2):c.20176C>T (p.Arg6726Trp)
|
rs371271767
|
0.00001
|
NM_182914.3(SYNE2):c.4231T>C (p.Ser1411Pro)
|
rs748414819
|
0.00001
|
NM_182961.4(SYNE1):c.20821A>G (p.Ile6941Val)
|
rs191912037
|
0.00001
|
NM_182961.4(SYNE1):c.23936G>A (p.Arg7979Gln)
|
rs769773495
|
0.00001
|
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp)
|
rs777175001
|
0.00001
|
NM_206937.2(LIG4):c.2422T>C (p.Ser808Pro)
|
rs1284344984
|
0.00001
|
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1
|
|
|
GRCh37/hg19 1q43(chr1:237413038-237540797)
|
|
|
NC_012920.1:m.5782_13922del8141
|
|
|
NC_012920.1:m.5794_14876del9083
|
|
|
NM_000018.3(ACADVL):c.1375dup
|
rs796051916
|
|
NM_000018.4(ACADVL):c.100_104dup (p.Arg37fs)
|
rs2142960989
|
|
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)
|
rs1329022268
|
|
NM_000018.4(ACADVL):c.105_109del (p.Arg37fs)
|
|
|
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)
|
rs1555527532
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
NM_000018.4(ACADVL):c.1077+1G>A
|
rs140989450
|
|
NM_000018.4(ACADVL):c.1077+2T>C
|
rs1057516370
|
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)
|
rs776063244
|
|
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)
|
rs1281137823
|
|
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
|
|
|
NM_000018.4(ACADVL):c.1213G>C (p.Asp405His)
|
|
|
NM_000018.4(ACADVL):c.1234C>T (p.Gln412Ter)
|
|
|
NM_000018.4(ACADVL):c.1238T>C (p.Ile413Thr)
|
|
|
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)
|
rs1597534120
|
|
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
|
NM_000018.4(ACADVL):c.1269+1G>A
|
rs773401248
|
|
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)
|
rs1419478766
|
|
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)
|
rs2071345754
|
|
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)
|
rs2071345821
|
|
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)
|
rs748450834
|
|
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)
|
rs748077880
|
|
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
|
|
|
NM_000018.4(ACADVL):c.1333-2A>T
|
rs1057517280
|
|
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)
|
rs794727112
|
|
NM_000018.4(ACADVL):c.1375C>G (p.Arg459Gly)
|
rs766742117
|
|
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)
|
rs398123082
|
|
NM_000018.4(ACADVL):c.139-1G>A
|
|
|
NM_000018.4(ACADVL):c.139-1G>T
|
rs1597518019
|
|
NM_000018.4(ACADVL):c.1417del (p.Ala473fs)
|
|
|
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
|
|
|
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)
|
rs1060499596
|
|
NM_000018.4(ACADVL):c.1612del (p.Arg538fs)
|
rs1555528937
|
|
NM_000018.4(ACADVL):c.1678+1G>T
|
|
|
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
|
|
|
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
|
|
|
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)
|
rs1555529048
|
|
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)
|
rs796051917
|
|
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)
|
rs2142990894
|
|
NM_000018.4(ACADVL):c.1839del (p.Ile614fs)
|
|
|
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)
|
rs1057520507
|
|
NM_000018.4(ACADVL):c.192del (p.Lys64fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.192dup (p.Pro65fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)
|
rs765432568
|
|
NM_000018.4(ACADVL):c.228_231dup (p.Phe78fs)
|
|
|
NM_000018.4(ACADVL):c.259_272delinsT (p.Val87fs)
|
|
|
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)
|
rs796051907
|
|
NM_000018.4(ACADVL):c.265C>T (p.Pro89Ser)
|
|
|
NM_000018.4(ACADVL):c.266del (p.Pro89fs)
|
rs771808680
|
|
NM_000018.4(ACADVL):c.277+2T>A
|
|
|
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
|
|
|
NM_000018.4(ACADVL):c.298C>T (p.Gln100Ter)
|
|
|
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)
|
rs786204713
|
|
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)
|
rs1597520263
|
|
NM_000018.4(ACADVL):c.335del (p.Phe112fs)
|
rs764028320
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.365dup (p.Asn122fs)
|
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.388_391dup (p.Thr131fs)
|
|
|
NM_000018.4(ACADVL):c.421dup (p.Ala141fs)
|
rs2071185652
|
|
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)
|
rs758144859
|
|
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)
|
rs786204738
|
|
NM_000018.4(ACADVL):c.477+1G>C
|
rs2142969951
|
|
NM_000018.4(ACADVL):c.479_486del
|
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)
|
rs1597524963
|
|
NM_000018.4(ACADVL):c.552del (p.Ile184fs)
|
rs1597525249
|
|
NM_000018.4(ACADVL):c.595_598del (p.Glu199fs)
|
|
|
NM_000018.4(ACADVL):c.603C>A (p.Tyr201Ter)
|
|
|
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
|
|
|
NM_000018.4(ACADVL):c.604del (p.Leu202fs)
|
|
|
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)
|
rs768975918
|
|
NM_000018.4(ACADVL):c.623-2_623-1del
|
rs1555528265
|
|
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)
|
rs2142976531
|
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
|
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)
|
rs1057516714
|
|
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)
|
rs1432183079
|
|
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
|
rs727503788
|
|
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)
|
rs2071255080
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
NM_000018.4(ACADVL):c.711_712del (p.Cys237fs)
|
rs2071256607
|
|
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
|
|
|
NM_000018.4(ACADVL):c.753-2A>G
|
rs398123092
|
|
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)
|
rs1197133430
|
|
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)
|
rs761204548
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
NM_000018.4(ACADVL):c.842C>A (p.Ala281Asp)
|
|
|
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
|
|
|
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)
|
rs886044671
|
|
NM_000018.4(ACADVL):c.879-2_879-1del
|
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
NM_000018.4(ACADVL):c.90del (p.Gln30fs)
|
|
|
NM_000018.4(ACADVL):c.916_917del (p.Asn306fs)
|
|
|
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)
|
rs2071289046
|
|
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
|
rs764488310
|
|
NM_000018.4(ACADVL):c.996del (p.Ala333fs)
|
rs1057516843
|
|
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)
|
rs1057516843
|
|
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
|
|
|
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)
|
rs1598277713
|
|
NM_000023.4(SGCA):c.1052del (p.Arg351fs)
|
|
|
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)
|
rs2144493427
|
|
NM_000023.4(SGCA):c.157+2T>G
|
|
|
NM_000023.4(SGCA):c.183dup (p.Tyr62fs)
|
rs886044688
|
|
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)
|
rs766400853
|
|
NM_000023.4(SGCA):c.20G>A (p.Trp7Ter)
|
|
|
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
|
|
|
NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter)
|
rs1598265248
|
|
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)
|
rs1567739339
|
|
NM_000023.4(SGCA):c.262_269dup (p.Gly91fs)
|
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)
|
rs752640127
|
|
NM_000023.4(SGCA):c.37+2C>G
|
rs112500642
|
|
NM_000023.4(SGCA):c.37+3A>T
|
|
|
NM_000023.4(SGCA):c.377dup (p.Asp126fs)
|
rs1905070544
|
|
NM_000023.4(SGCA):c.386-1G>A
|
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
NM_000023.4(SGCA):c.488_489delinsT (p.Gly163fs)
|
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter)
|
rs1057516242
|
|
NM_000023.4(SGCA):c.582dup (p.Gly195fs)
|
|
|
NM_000023.4(SGCA):c.596del (p.Lys199fs)
|
|
|
NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter)
|
|
|
NM_000023.4(SGCA):c.71del (p.Gln24fs)
|
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000023.4(SGCA):c.725T>C (p.Val242Ala)
|
|
|
NM_000023.4(SGCA):c.747+1G>A
|
rs886043392
|
|
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)
|
rs1057517377
|
|
NM_000023.4(SGCA):c.762del (p.Pro255fs)
|
|
|
NM_000023.4(SGCA):c.794del (p.Gly265fs)
|
|
|
NM_000023.4(SGCA):c.801dup (p.Ile268fs)
|
rs1905256830
|
|
NM_000023.4(SGCA):c.86dup (p.His29fs)
|
rs1904986620
|
|
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)
|
rs1555569329
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000023.4(SGCA):c.957-1G>T
|
rs2144502043
|
|
NM_000023.4(SGCA):c.960_961insTC (p.Lys321fs)
|
|
|
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)
|
rs796065318
|
|
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe)
|
rs2068330347
|
|
NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys)
|
|
|
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)
|
rs782507902
|
|
NM_000117.3(EMD):c.161C>T (p.Ser54Phe)
|
|
|
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)
|
rs1384386872
|
|
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)
|
|
|
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
|
|
|
NM_000126.4(ETFA):c.226del (p.Val76fs)
|
|
|
NM_000126.4(ETFA):c.238C>T (p.Gln80Ter)
|
|
|
NM_000126.4(ETFA):c.266del (p.Pro89fs)
|
|
|
NM_000126.4(ETFA):c.268+1G>C
|
|
|
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
|
|
|
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
|
|
|
NM_000126.4(ETFA):c.319_322del (p.His107fs)
|
rs866218814
|
|
NM_000126.4(ETFA):c.365G>A (p.Arg122Lys)
|
|
|
NM_000126.4(ETFA):c.371_372dup (p.Ala125fs)
|
|
|
NM_000126.4(ETFA):c.375_379delinsAAA (p.Lys126fs)
|
|
|
NM_000126.4(ETFA):c.451+1G>A
|
|
|
NM_000126.4(ETFA):c.452-2A>G
|
rs2141531787
|
|
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)
|
rs1298299792
|
|
NM_000126.4(ETFA):c.516del (p.Phe173fs)
|
|
|
NM_000126.4(ETFA):c.650_653dup (p.Val219fs)
|
|
|
NM_000126.4(ETFA):c.664+2dup
|
|
|
NM_000126.4(ETFA):c.665-1G>A
|
|
|
NM_000126.4(ETFA):c.689dup (p.Asn230fs)
|
|
|
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)
|
rs779140971
|
|
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
|
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
|
rs886042960
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1075+1G>T
|
|
|
NM_000152.5(GAA):c.1075+2T>C
|
|
|
NM_000152.5(GAA):c.1076-2A>G
|
rs1057516290
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)
|
rs1555600070
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
NM_000152.5(GAA):c.1117del (p.Leu373fs)
|
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)
|
rs786204646
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1194+2T>G
|
|
|
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)
|
|
|
NM_000152.5(GAA):c.133del (p.Ser45fs)
|
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
NM_000152.5(GAA):c.1396dup (p.Val466fs)
|
|
|
NM_000152.5(GAA):c.1407del (p.Asn470fs)
|
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
|
rs886043068
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
NM_000152.5(GAA):c.1438-1G>A
|
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
|
|
|
NM_000152.5(GAA):c.1494del (p.Trp498fs)
|
|
|
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
|
rs1598581919
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)
|
rs794727016
|
|
NM_000152.5(GAA):c.1636+1G>A
|
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.1703A>T (p.His568Leu)
|
rs2143882997
|
|
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)
|
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
NM_000152.5(GAA):c.1781G>A (p.Arg594His)
|
rs775450536
|
|
NM_000152.5(GAA):c.1798del (p.Arg600fs)
|
|
|
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)
|
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)
|
rs1243515778
|
|
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
|
|
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1888+1G>A
|
rs776325453
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
NM_000152.5(GAA):c.1924G>T (p.Val642Phe)
|
|
|
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs)
|
rs748829376
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>C (p.Asp645His)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)
|
rs368438393
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs)
|
|
|
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu)
|
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
NM_000152.5(GAA):c.2041-1G>A
|
rs760731229
|
|
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs)
|
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)
|
rs398123172
|
|
NM_000152.5(GAA):c.2122del (p.His708fs)
|
|
|
NM_000152.5(GAA):c.2122dup (p.His708fs)
|
|
|
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)
|
rs1555601780
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter)
|
rs140376273
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
NM_000152.5(GAA):c.2189+2T>A
|
|
|
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)
|
rs1057516327
|
|
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)
|
rs1057516277
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)
|
rs1057516363
|
|
NM_000152.5(GAA):c.2242del (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2261dup (p.Val755fs)
|
rs1555602648
|
|
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)
|
rs200483245
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)
|
|
|
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
|
|
|
NM_000152.5(GAA):c.2331+1G>A
|
|
|
NM_000152.5(GAA):c.2331+1G>C
|
|
|
NM_000152.5(GAA):c.2331+4A>G
|
|
|
NM_000152.5(GAA):c.2332-1G>A
|
|
|
NM_000152.5(GAA):c.236_246del (p.Pro79fs)
|
rs1057517165
|
|
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)
|
rs763048948
|
|
NM_000152.5(GAA):c.2476del (p.Leu826fs)
|
|
|
NM_000152.5(GAA):c.2481+110_2646+39del
|
rs1598592604
|
|
NM_000152.5(GAA):c.2544del (p.Lys849fs)
|
rs398123173
|
|
NM_000152.5(GAA):c.258del (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)
|
|
|
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
|
|
|
NM_000152.5(GAA):c.2672del (p.Arg891fs)
|
|
|
NM_000152.5(GAA):c.2701del (p.Leu901fs)
|
|
|
NM_000152.5(GAA):c.2723del (p.Gly908fs)
|
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.2799+2C>G
|
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)
|
|
|
NM_000152.5(GAA):c.340_341insT (p.Lys114fs)
|
rs2143827701
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
NM_000152.5(GAA):c.371_381del (p.Gln124fs)
|
|
|
NM_000152.5(GAA):c.378G>A (p.Trp126Ter)
|
rs2039041225
|
|
NM_000152.5(GAA):c.389del (p.Pro130fs)
|
|
|
NM_000152.5(GAA):c.396dup (p.Tyr133fs)
|
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
NM_000152.5(GAA):c.465dup (p.Thr156fs)
|
|
|
NM_000152.5(GAA):c.482_483del (p.Pro161fs)
|
rs764750389
|
|
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)
|
|
|
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer)
|
rs2143829478
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.546G>T (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
NM_000152.5(GAA):c.84dup (p.His29fs)
|
|
|
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)
|
rs764622267
|
|
NM_000152.5(GAA):c.858+1G>A
|
|
|
NM_000152.5(GAA):c.859-2A>G
|
rs2143848897
|
|
NM_000152.5(GAA):c.873_874del (p.Tyr292fs)
|
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|
NM_000152.5(GAA):c.[2228A>G;2237G>C]
|
|
|
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)
|
rs398123527
|
|
NM_000157.4(GBA1):c.1388+2T>C
|
rs1571965880
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)
|
rs398123530
|
|
NM_000157.4(GBA1):c.509G>A (p.Arg170His)
|
rs80356763
|
|
NM_000157.4(GBA1):c.913C>G (p.Pro305Ala)
|
rs770796008
|
|
NM_000157.4(GBA1):c.929G>A (p.Ser310Asn)
|
rs74731340
|
|
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys)
|
rs765633380
|
|
NM_000182.5(HADHA):c.1086-3_1092del
|
rs1057516460
|
|
NM_000182.5(HADHA):c.1221-2A>G
|
|
|
NM_000182.5(HADHA):c.129dup (p.Gly44fs)
|
rs1298883200
|
|
NM_000182.5(HADHA):c.1533dup (p.Ile512fs)
|
|
|
NM_000182.5(HADHA):c.1549del (p.Thr517fs)
|
|
|
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)
|
rs147103714
|
|
NM_000182.5(HADHA):c.160del (p.Ile54fs)
|
|
|
NM_000182.5(HADHA):c.1644del (p.Arg549fs)
|
rs1267615713
|
|
NM_000182.5(HADHA):c.1654G>C (p.Ala552Pro)
|
|
|
NM_000182.5(HADHA):c.1689+2T>G
|
rs1574602991
|
|
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs)
|
rs1278248464
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
NM_000182.5(HADHA):c.180_180+5delinsAT
|
rs1553316142
|
|
NM_000182.5(HADHA):c.181-1G>A
|
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
|
|
|
NM_000182.5(HADHA):c.1937_1940del (p.Lys646fs)
|
|
|
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)
|
rs779113356
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
NM_000182.5(HADHA):c.2027G>A (p.Arg676His)
|
rs1204190984
|
|
NM_000182.5(HADHA):c.2063G>A (p.Cys688Tyr)
|
rs1669504364
|
|
NM_000182.5(HADHA):c.2064_2081delinsTGGCCTCTGA (p.Leu689_Leu694delinsGlyLeuTer)
|
|
|
NM_000182.5(HADHA):c.2077del (p.Ile693fs)
|
|
|
NM_000182.5(HADHA):c.2090_2115del (p.Pro697fs)
|
|
|
NM_000182.5(HADHA):c.2132dup (p.Pro712fs)
|
rs1574600309
|
|
NM_000182.5(HADHA):c.2183_2190del (p.Lys728fs)
|
|
|
NM_000182.5(HADHA):c.2193_2194dup (p.Arg732fs)
|
|
|
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)
|
rs868816467
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
NM_000182.5(HADHA):c.314+1G>C
|
|
|
NM_000182.5(HADHA):c.315-2A>T
|
|
|
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter)
|
rs2147781182
|
|
NM_000182.5(HADHA):c.574-2A>G
|
rs1670591013
|
|
NM_000182.5(HADHA):c.658C>T (p.Gln220Ter)
|
|
|
NM_000182.5(HADHA):c.67+1G>A
|
|
|
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)
|
rs786204607
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
|
NM_000182.5(HADHA):c.874A>T (p.Lys292Ter)
|
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
NM_000182.5(HADHA):c.919-1G>A
|
|
|
NM_000182.5(HADHA):c.959del (p.Tyr320fs)
|
|
|
NM_000182.5(HADHA):c.976-2A>G
|
|
|
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)
|
rs991612107
|
|
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr)
|
rs894585162
|
|
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
|
rs776305028
|
|
NM_000231.3(SGCG):c.10G>T (p.Glu4Ter)
|
|
|
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)
|
rs781760379
|
|
NM_000231.3(SGCG):c.186G>A (p.Trp62Ter)
|
rs1555234810
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
|
|
|
NM_000231.3(SGCG):c.298-2A>C
|
rs1555240119
|
|
NM_000231.3(SGCG):c.298-2A>G
|
|
|
NM_000231.3(SGCG):c.386-2A>C
|
rs886042757
|
|
NM_000231.3(SGCG):c.450_456del (p.Leu150_Phe151insTer)
|
|
|
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer)
|
rs886042540
|
|
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)
|
rs1881219252
|
|
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)
|
rs1881865054
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.578+1G>C
|
rs1555245353
|
|
NM_000231.3(SGCG):c.579-1G>A
|
|
|
NM_000231.3(SGCG):c.579-1G>C
|
|
|
NM_000231.3(SGCG):c.580_584del
|
|
|
NM_000231.3(SGCG):c.582dup (p.Glu195fs)
|
|
|
NM_000231.3(SGCG):c.758dup (p.Pro254fs)
|
|
|
NM_000231.3(SGCG):c.796del (p.Val266fs)
|
|
|
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)
|
rs780348174
|
|
NM_000231.3(SGCG):c.801_802del (p.Pro268fs)
|
rs2137534216
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000231.3(SGCG):c.85dup (p.Tyr29fs)
|
|
|
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)
|
|
|
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
|
|
|
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
|
rs1553940963
|
|
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
|
|
|
NM_000232.5(SGCB):c.102del (p.Glu35fs)
|
rs2109376007
|
|
NM_000232.5(SGCB):c.113_120delinsATAAAGAGCACA (p.Ser38fs)
|
|
|
NM_000232.5(SGCB):c.151dup (p.Arg51fs)
|
|
|
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
|
|
|
NM_000232.5(SGCB):c.243+3_243+6del
|
rs1553940660
|
|
NM_000232.5(SGCB):c.253_254del (p.Val85fs)
|
rs1553940274
|
|
NM_000232.5(SGCB):c.275T>C (p.Ile92Thr)
|
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
NM_000232.5(SGCB):c.29_33del (p.Glu10fs)
|
rs1057517064
|
|
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)
|
rs750773622
|
|
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
|
|
|
NM_000232.5(SGCB):c.374del (p.Ser125fs)
|
|
|
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)
|
rs751427729
|
|
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)
|
rs1013015106
|
|
NM_000232.5(SGCB):c.404T>A (p.Leu135Ter)
|
|
|
NM_000232.5(SGCB):c.429+2dup
|
|
|
NM_000232.5(SGCB):c.430-2A>G
|
|
|
NM_000232.5(SGCB):c.491_494delinsTTG (p.Ser164fs)
|
|
|
NM_000232.5(SGCB):c.532dup (p.Ile178fs)
|
|
|
NM_000232.5(SGCB):c.572del (p.Leu191fs)
|
rs886042546
|
|
NM_000232.5(SGCB):c.573_574delinsCAA (p.Leu191fs)
|
|
|
NM_000232.5(SGCB):c.610T>C (p.Ser204Pro)
|
rs886044156
|
|
NM_000232.5(SGCB):c.621+2T>C
|
|
|
NM_000232.5(SGCB):c.622-1G>C
|
rs2109370093
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
NM_000232.5(SGCB):c.703dup (p.Met235fs)
|
|
|
NM_000232.5(SGCB):c.734dup (p.Gly245_Asn246insTer)
|
|
|
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)
|
rs771814273
|
|
NM_000256.3(MYBPC3):c.1234T>C (p.Phe412Leu)
|
rs2095890795
|
|
NM_000256.3(MYBPC3):c.1930C>T (p.Pro644Ser)
|
rs2095886536
|
|
NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)
|
|
|
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)
|
rs397515982
|
|
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs)
|
rs869025468
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)
|
rs727504289
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)
|
rs187705120
|
|
NM_000256.3(MYBPC3):c.450del (p.Asp151fs)
|
rs730880677
|
|
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter)
|
rs730880618
|
|
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)
|
rs727503212
|
|
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)
|
rs397516089
|
|
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)
|
rs727504753
|
|
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)
|
rs727503253
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
NM_000257.4(MYH7):c.2951G>T (p.Gly984Val)
|
rs1892575677
|
|
NM_000257.4(MYH7):c.345+1G>A
|
rs112907315
|
|
NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro)
|
rs397516195
|
|
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
|
|
|
NM_000257.4(MYH7):c.4361C>A (p.Ala1454Asp)
|
rs1892259980
|
|
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)
|
rs545875689
|
|
NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)
|
|
|
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)
|
rs397516254
|
|
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)
|
rs878853840
|
|
NM_000257.4(MYH7):c.732+1del
|
rs397516266
|
|
NM_000337.6(SGCD):c.18_37del (p.Gln6fs)
|
|
|
NM_000337.6(SGCD):c.227del (p.Gly76fs)
|
|
|
NM_000337.6(SGCD):c.289C>T (p.Arg97Ter)
|
rs758700138
|
|
NM_000337.6(SGCD):c.354_358del (p.Thr119fs)
|
rs1760626889
|
|
NM_000337.6(SGCD):c.4-1G>T
|
rs1554094927
|
|
NM_000337.6(SGCD):c.400del (p.Ala134fs)
|
|
|
NM_000337.6(SGCD):c.441dup (p.Leu148fs)
|
|
|
NM_000337.6(SGCD):c.699+1G>A
|
|
|
NM_000337.6(SGCD):c.717dup (p.Lys240fs)
|
|
|
NM_000363.5(TNNI3):c.258del (p.Leu88fs)
|
rs727503507
|
|
NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)
|
rs104894730
|
|
NM_001005242.3(PKP2):c.1379-2047_1379-2043del
|
rs775995156
|
|
NM_001005242.3(PKP2):c.1839+2T>A
|
|
|
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter)
|
rs1444213066
|
|
NM_001005242.3(PKP2):c.2066_2070del (p.His689fs)
|
rs397517021
|
|
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)
|
rs397516373
|
|
NM_001018005.2(TPM1):c.479G>A (p.Arg160His)
|
rs199476311
|
|
NM_001018005.2(TPM1):c.550G>A (p.Glu184Lys)
|
rs2035529273
|
|
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)
|
rs199476317
|
|
NM_001018005.2(TPM1):c.777G>T (p.Glu259Asp)
|
rs2035997247
|
|
NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu)
|
rs1060500137
|
|
NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe)
|
|
|
NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe)
|
rs794728785
|
|
NM_001035.3(RYR2):c.14132G>A (p.Gly4711Glu)
|
|
|
NM_001035.3(RYR2):c.14751T>G (p.Asn4917Lys)
|
|
|
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)
|
rs794728708
|
|
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser)
|
rs2148724464
|
|
NM_001035.3(RYR2):c.6957_6959del (p.Val2321del)
|
rs794728834
|
|
NM_001035.3(RYR2):c.6958G>A (p.Val2320Met)
|
rs1057522884
|
|
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val)
|
rs761019645
|
|
NM_001079802.2(FKTN):c.1022del (p.Pro341fs)
|
rs2133163213
|
|
NM_001079802.2(FKTN):c.1044+2T>A
|
|
|
NM_001079802.2(FKTN):c.1045-1G>T
|
|
|
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)
|
rs750176716
|
|
NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)
|
|
|
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)
|
rs1588222602
|
|
NM_001079802.2(FKTN):c.1167del (p.Lys389fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.1172+1G>A
|
rs1554761462
|
|
NM_001079802.2(FKTN):c.1175dup (p.Tyr392Ter)
|
|
|
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter)
|
rs1203741361
|
|
NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter)
|
rs1203741361
|
|
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del)
|
rs1554766855
|
|
NM_001079802.2(FKTN):c.1225_1236delinsT (p.Val409fs)
|
|
|
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter)
|
rs765934383
|
|
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
|
rs1588315166
|
|
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser)
|
rs752358445
|
|
NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)
|
|
|
NM_001079802.2(FKTN):c.166-1G>A
|
|
|
NM_001079802.2(FKTN):c.219del (p.Ile75fs)
|
|
|
NM_001079802.2(FKTN):c.21del (p.Asn7fs)
|
|
|
NM_001079802.2(FKTN):c.348dup (p.Tyr117fs)
|
|
|
NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter)
|
rs1376019203
|
|
NM_001079802.2(FKTN):c.370-1G>C
|
|
|
NM_001079802.2(FKTN):c.38T>A (p.Leu13Ter)
|
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)
|
|
|
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu)
|
rs119464997
|
|
NM_001079802.2(FKTN):c.515A>G (p.His172Arg)
|
|
|
NM_001079802.2(FKTN):c.530_546del (p.His177fs)
|
|
|
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr)
|
rs119463994
|
|
NM_001079802.2(FKTN):c.540del (p.Ser180fs)
|
rs1828477244
|
|
NM_001079802.2(FKTN):c.594del (p.Lys198fs)
|
|
|
NM_001079802.2(FKTN):c.608del (p.Arg203fs)
|
|
|
NM_001079802.2(FKTN):c.60dup (p.Leu21fs)
|
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001079802.2(FKTN):c.648-1243G>T
|
rs1554754182
|
|
NM_001079802.2(FKTN):c.658del (p.Gln220fs)
|
|
|
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)
|
rs1564301594
|
|
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)
|
rs377417974
|
|
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter)
|
rs369797361
|
|
NM_001079802.2(FKTN):c.910+1G>C
|
|
|
NM_001079802.2(FKTN):c.914_925delinsTATTCCTAATA (p.Trp305fs)
|
|
|
NM_001079802.2(FKTN):c.989_991delinsTAATC (p.Asp330fs)
|
|
|
NM_001079802.2(FKTN):c.998T>G (p.Leu333Ter)
|
|
|
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val)
|
rs1576359216
|
|
NM_001103.4(ACTN2):c.1135G>T (p.Glu379Ter)
|
rs1659115252
|
|
NM_001103.4(ACTN2):c.616-1G>A
|
rs1658704090
|
|
NM_001105206.3(LAMA4):c.1696G>C (p.Asp566His)
|
rs1780882314
|
|
NM_001122630.2(CDKN1C):c.*5+1G>A
|
|
|
NM_001122630.2(CDKN1C):c.254A>G (p.Gln85Arg)
|
rs1220704341
|
|
NM_001122630.2(CDKN1C):c.274C>G (p.Leu92Val)
|
rs1416112498
|
|
NM_001122630.2(CDKN1C):c.289_304del (p.Pro97fs)
|
|
|
NM_001122630.2(CDKN1C):c.355G>C (p.Glu119Gln)
|
|
|
NM_001122630.2(CDKN1C):c.380G>C (p.Ser127Thr)
|
|
|
NM_001122630.2(CDKN1C):c.407C>A (p.Thr136Asn)
|
rs1848955065
|
|
NM_001122630.2(CDKN1C):c.410C>G (p.Pro137Arg)
|
|
|
NM_001122630.2(CDKN1C):c.431C>T (p.Ala144Val)
|
rs1848952463
|
|
NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly)
|
rs765255367
|
|
NM_001122630.2(CDKN1C):c.476_477del (p.Ala159fs)
|
|
|
NM_001122630.2(CDKN1C):c.626C>T (p.Pro209Leu)
|
rs763289302
|
|
NM_001122630.2(CDKN1C):c.650C>T (p.Ala217Val)
|
|
|
NM_001122630.2(CDKN1C):c.664C>T (p.Arg222Cys)
|
|
|
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val)
|
rs765542916
|
|
NM_001122630.2(CDKN1C):c.835G>A (p.Asp279Asn)
|
rs1352481541
|
|
NM_001122630.2(CDKN1C):c.901C>T (p.Arg301Cys)
|
|
|
NM_001122630.2(CDKN1C):c.913C>T (p.Arg305Trp)
|
rs2133779874
|
|
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys)
|
rs1564664312
|
|
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)
|
rs1603271659
|
|
NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser)
|
rs56391414
|
|
NM_001267550.2(TTN):c.10115-1G>C
|
rs2088245783
|
|
NM_001267550.2(TTN):c.101533T>C (p.Tyr33845His)
|
rs1227515280
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter)
|
rs2082478614
|
|
NM_001267550.2(TTN):c.20772G>T (p.Lys6924Asn)
|
rs369993514
|
|
NM_001267550.2(TTN):c.20904G>T (p.Glu6968Asp)
|
rs2078993063
|
|
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)
|
rs727505277
|
|
NM_001267550.2(TTN):c.22982A>C (p.Asn7661Thr)
|
rs2078278433
|
|
NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys)
|
rs727504205
|
|
NM_001267550.2(TTN):c.26258T>G (p.Val8753Gly)
|
rs867579263
|
|
NM_001267550.2(TTN):c.26305T>G (p.Trp8769Gly)
|
rs779847107
|
|
NM_001267550.2(TTN):c.32554+3A>G
|
rs2070438723
|
|
NM_001267550.2(TTN):c.32653A>G (p.Met10885Val)
|
rs200732179
|
|
NM_001267550.2(TTN):c.32872C>A (p.Pro10958Thr)
|
rs2069920810
|
|
NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys)
|
|
|
NM_001267550.2(TTN):c.33325G>A (p.Glu11109Lys)
|
rs1420096611
|
|
NM_001267550.2(TTN):c.33910+3A>G
|
|
|
NM_001267550.2(TTN):c.35678_35685delinsA (p.Thr11893fs)
|
rs2066169270
|
|
NM_001267550.2(TTN):c.36281-7T>G
|
|
|
NM_001267550.2(TTN):c.38182A>T (p.Lys12728Ter)
|
|
|
NM_001267550.2(TTN):c.41063A>G (p.Glu13688Gly)
|
rs2060476554
|
|
NM_001267550.2(TTN):c.43800A>C (p.Lys14600Asn)
|
rs769967388
|
|
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs)
|
rs794729390
|
|
NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)
|
|
|
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
|
|
|
NM_001267550.2(TTN):c.47102G>C (p.Arg15701Thr)
|
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.49609A>C (p.Ser16537Arg)
|
|
|
NM_001267550.2(TTN):c.5045T>G (p.Leu1682Trp)
|
rs2092276401
|
|
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
|
|
|
NM_001267550.2(TTN):c.55154A>G (p.Gln18385Arg)
|
rs2053613633
|
|
NM_001267550.2(TTN):c.55264A>G (p.Met18422Val)
|
rs2053594072
|
|
NM_001267550.2(TTN):c.55345T>C (p.Cys18449Arg)
|
rs2053507157
|
|
NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)
|
|
|
NM_001267550.2(TTN):c.63047G>C (p.Ser21016Thr)
|
rs1169239147
|
|
NM_001267550.2(TTN):c.63450A>G (p.Gln21150=)
|
rs2049398530
|
|
NM_001267550.2(TTN):c.64066A>G (p.Lys21356Glu)
|
rs2049196006
|
|
NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp)
|
rs1559507734
|
|
NM_001267550.2(TTN):c.70195C>G (p.Leu23399Val)
|
rs1709920958
|
|
NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)
|
|
|
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs)
|
rs794729340
|
|
NM_001267550.2(TTN):c.77618C>T (p.Ala25873Val)
|
rs751402631
|
|
NM_001267550.2(TTN):c.80906T>G (p.Val26969Gly)
|
rs1705274718
|
|
NM_001267550.2(TTN):c.82325T>C (p.Phe27442Ser)
|
rs998149958
|
|
NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val)
|
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.83730G>A (p.Trp27910Ter)
|
|
|
NM_001267550.2(TTN):c.86822-2A>G
|
rs773710035
|
|
NM_001267550.2(TTN):c.86822-8T>G
|
|
|
NM_001267550.2(TTN):c.86974T>G (p.Cys28992Gly)
|
rs769162510
|
|
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)
|
rs878854428
|
|
NM_001267550.2(TTN):c.91564+2T>C
|
rs1699208458
|
|
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)
|
rs1698600051
|
|
NM_001267550.2(TTN):c.92785G>A (p.Ala30929Thr)
|
rs1192451781
|
|
NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)
|
|
|
NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile)
|
|
|
NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)
|
|
|
NM_001267550.2(TTN):c.98989+2T>C
|
|
|
NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr)
|
|
|
NM_001267550.2(TTN):c.99667C>T (p.Arg33223Cys)
|
|
|
NM_001276345.2(TNNT2):c.433del (p.Ala145fs)
|
|
|
NM_001276345.2(TNNT2):c.493G>T (p.Glu165Ter)
|
rs1558225837
|
|
NM_001281740.3(FHOD3):c.2481C>A (p.Ser827Arg)
|
|
|
NM_001386795.1(DTNA):c.442T>A (p.Leu148Ile)
|
|
|
NM_001386795.1(DTNA):c.604-10T>C
|
rs2095586366
|
|
NM_001458.5(FLNC):c.2212C>A (p.His738Asn)
|
|
|
NM_001458.5(FLNC):c.46dup (p.Asp16fs)
|
|
|
NM_001458.5(FLNC):c.6589C>T (p.Arg2197Trp)
|
rs1808943188
|
|
NM_001458.5(FLNC):c.7581del (p.Ile2527fs)
|
|
|
NM_001458.5(FLNC):c.7780+1G>T
|
|
|
NM_001458.5(FLNC):c.7925del (p.Gly2642fs)
|
|
|
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del)
|
rs2125168730
|
|
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
|
rs62636495
|
|
NM_001927.4(DES):c.640G>T (p.Asp214Tyr)
|
rs1954409882
|
|
NM_001943.5(DSG2):c.2551del (p.Ile851fs)
|
rs763907170
|
|
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)
|
rs1261674855
|
|
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)
|
|
|
NM_001985.3(ETFB):c.163A>T (p.Lys55Ter)
|
|
|
NM_001985.3(ETFB):c.208del (p.Gln70fs)
|
|
|
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)
|
rs187424345
|
|
NM_001985.3(ETFB):c.32dup (p.Arg12fs)
|
|
|
NM_001985.3(ETFB):c.375+1G>C
|
|
|
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
|
|
|
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)
|
rs104894677
|
|
NM_001985.3(ETFB):c.58-27C>T
|
|
|
NM_001985.3(ETFB):c.598-1del
|
rs750961823
|
|
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
|
|
|
NM_001985.3(ETFB):c.61del (p.Arg21fs)
|
|
|
NM_001985.3(ETFB):c.671_672del (p.Val224fs)
|
|
|
NM_001985.3(ETFB):c.94del (p.Asp32fs)
|
|
|
NM_002230.4(JUP):c.1105G>T (p.Val369Leu)
|
rs1915425116
|
|
NM_002471.4(MYH6):c.1482G>A (p.Met494Ile)
|
rs1891561643
|
|
NM_002471.4(MYH6):c.3946G>A (p.Asp1316Asn)
|
|
|
NM_002471.4(MYH6):c.4047C>A (p.Tyr1349Ter)
|
rs570555040
|
|
NM_002471.4(MYH6):c.478A>G (p.Asn160Asp)
|
|
|
NM_002667.5(PLN):c.61C>T (p.Pro21Ser)
|
rs397516786
|
|
NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr)
|
rs1057519732
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)
|
rs397507501
|
|
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)
|
rs1566164987
|
|
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)
|
rs121918458
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys)
|
rs886039463
|
|
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)
|
rs397507549
|
|
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)
|
rs397507550
|
|
NM_002834.5(PTPN11):c.1678C>G (p.Leu560Val)
|
rs397516797
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)
|
rs397507509
|
|
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)
|
rs397507510
|
|
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
|
rs121918461
|
|
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)
|
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
|
rs121918462
|
|
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)
|
rs397507519
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys)
|
rs397507527
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)
|
rs397516827
|
|
NM_002880.4(RAF1):c.779C>A (p.Thr260Lys)
|
rs869025501
|
|
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)
|
rs397516828
|
|
NM_002880.4(RAF1):c.949_950delinsCT (p.Glu317Leu)
|
|
|
NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn)
|
rs986180095
|
|
NM_003239.5(TGFB3):c.411del (p.Ser138fs)
|
rs2035295129
|
|
NM_003239.5(TGFB3):c.997G>A (p.Val333Ile)
|
|
|
NM_003280.3(TNNC1):c.73G>A (p.Asp25Asn)
|
rs730881064
|
|
NM_004006.3(DMD):c.10271C>T (p.Ser3424Leu)
|
rs1339174553
|
|
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
|
|
|
NM_004168.4(SDHA):c.1028T>A (p.Val343Glu)
|
rs1218116319
|
|
NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg)
|
rs746611221
|
|
NM_004168.4(SDHA):c.1064+2T>A
|
rs1553999072
|
|
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala)
|
rs750500173
|
|
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser)
|
rs750500173
|
|
NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)
|
|
|
NM_004168.4(SDHA):c.10G>A (p.Val4Ile)
|
rs778069799
|
|
NM_004168.4(SDHA):c.1159_1162del (p.Thr386_Ala387insTer)
|
|
|
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile)
|
rs748683825
|
|
NM_004168.4(SDHA):c.1186A>C (p.Thr396Pro)
|
|
|
NM_004168.4(SDHA):c.1188_1195del (p.Lys397fs)
|
|
|
NM_004168.4(SDHA):c.1232del (p.Gly411fs)
|
|
|
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys)
|
rs768055345
|
|
NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu)
|
|
|
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg)
|
rs1735709331
|
|
NM_004168.4(SDHA):c.1260+1G>A
|
rs1735710012
|
|
NM_004168.4(SDHA):c.1260+1G>T
|
|
|
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)
|
rs201822097
|
|
NM_004168.4(SDHA):c.1274T>A (p.Val425Glu)
|
|
|
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
|
|
|
NM_004168.4(SDHA):c.1331C>A (p.Ala444Asp)
|
|
|
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu)
|
rs1296066077
|
|
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser)
|
rs1579409723
|
|
NM_004168.4(SDHA):c.1370T>A (p.Leu457His)
|
rs1579409887
|
|
NM_004168.4(SDHA):c.1432+1_1432+2delinsAG
|
rs1579410180
|
|
NM_004168.4(SDHA):c.1444C>T (p.Pro482Ser)
|
|
|
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)
|
rs1554000360
|
|
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)
|
rs1064793567
|
|
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
NM_004168.4(SDHA):c.1552-219A>G
|
|
|
NM_004168.4(SDHA):c.1564_1566del (p.His522del)
|
rs1325342549
|
|
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val)
|
rs137852767
|
|
NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu)
|
rs2126632042
|
|
NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala)
|
rs1736789524
|
|
NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg)
|
rs1736789994
|
|
NM_004168.4(SDHA):c.1615dup (p.Ile539fs)
|
rs1554001843
|
|
NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro)
|
rs1233761838
|
|
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg)
|
rs1561010407
|
|
NM_004168.4(SDHA):c.1663+5G>C
|
rs1736797211
|
|
NM_004168.4(SDHA):c.166C>A (p.Pro56Thr)
|
rs2126542374
|
|
NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)
|
|
|
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)
|
rs763766162
|
|
NM_004168.4(SDHA):c.1795G>A (p.Val599Met)
|
|
|
NM_004168.4(SDHA):c.1832del (p.Gln611fs)
|
rs1554002451
|
|
NM_004168.4(SDHA):c.1863C>G (p.His621Gln)
|
rs1554002478
|
|
NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys)
|
rs6960
|
|
NM_004168.4(SDHA):c.1908+176A>T
|
|
|
NM_004168.4(SDHA):c.1915_1916del (p.Leu639fs)
|
|
|
NM_004168.4(SDHA):c.1982T>C (p.Ile661Thr)
|
|
|
NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr)
|
rs138016874
|
|
NM_004168.4(SDHA):c.272C>T (p.Thr91Ile)
|
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
NM_004168.4(SDHA):c.396G>T (p.Trp132Cys)
|
rs1734960239
|
|
NM_004168.4(SDHA):c.407A>G (p.Gln136Arg)
|
|
|
NM_004168.4(SDHA):c.411T>G (p.Asp137Glu)
|
rs1444399160
|
|
NM_004168.4(SDHA):c.428C>T (p.Thr143Met)
|
rs200675907
|
|
NM_004168.4(SDHA):c.456G>A (p.Glu152=)
|
rs1579384590
|
|
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)
|
rs1060503711
|
|
NM_004168.4(SDHA):c.49G>T (p.Ala17Ser)
|
|
|
NM_004168.4(SDHA):c.553C>G (p.Gln185Glu)
|
rs775827529
|
|
NM_004168.4(SDHA):c.572G>C (p.Cys191Ser)
|
rs1393298155
|
|
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)
|
rs1337777456
|
|
NM_004168.4(SDHA):c.584G>C (p.Arg195Pro)
|
|
|
NM_004168.4(SDHA):c.598C>A (p.Leu200Ile)
|
rs764307917
|
|
NM_004168.4(SDHA):c.608C>T (p.Thr203Ile)
|
rs1735001122
|
|
NM_004168.4(SDHA):c.623C>T (p.Ser208Phe)
|
|
|
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)
|
rs775143272
|
|
NM_004168.4(SDHA):c.63+3del
|
rs1734505446
|
|
NM_004168.4(SDHA):c.637A>G (p.Thr213Ala)
|
|
|
NM_004168.4(SDHA):c.667del (p.Asp223fs)
|
rs587782077
|
|
NM_004168.4(SDHA):c.668dup (p.Asp223fs)
|
|
|
NM_004168.4(SDHA):c.670C>T (p.Leu224Phe)
|
|
|
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln)
|
rs1436777353
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.716T>G (p.Ile239Arg)
|
|
|
NM_004168.4(SDHA):c.723_730dup (p.Ile244fs)
|
|
|
NM_004168.4(SDHA):c.737G>A (p.Arg246His)
|
rs745309710
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.771-1G>C
|
rs1735353141
|
|
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile)
|
rs1579397115
|
|
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys)
|
rs367721665
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
NM_004168.4(SDHA):c.854T>C (p.Leu285Pro)
|
|
|
NM_004168.4(SDHA):c.885C>G (p.Phe295Leu)
|
|
|
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile)
|
rs1560985157
|
|
NM_004168.4(SDHA):c.926A>G (p.Glu309Gly)
|
rs1735547863
|
|
NM_004168.4(SDHA):c.935G>A (p.Arg312His)
|
rs876660932
|
|
NM_004168.4(SDHA):c.941A>G (p.Glu314Gly)
|
rs1735550179
|
|
NM_004281.4(BAG3):c.-2G>T
|
rs1846841562
|
|
NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)
|
|
|
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)
|
rs180177042
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004453.4(ETFDH):c.1011del (p.Phe337fs)
|
rs757063739
|
|
NM_004453.4(ETFDH):c.1019del (p.Phe340fs)
|
|
|
NM_004453.4(ETFDH):c.1031_1034del (p.Lys344fs)
|
|
|
NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)
|
|
|
NM_004453.4(ETFDH):c.1117-2A>G
|
|
|
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)
|
rs387907170
|
|
NM_004453.4(ETFDH):c.1134del (p.Pro380fs)
|
rs1369800014
|
|
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs)
|
rs2126309189
|
|
NM_004453.4(ETFDH):c.1166del (p.Pro389fs)
|
|
|
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe)
|
rs1200031596
|
|
NM_004453.4(ETFDH):c.1245dup (p.Asn416Ter)
|
|
|
NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter)
|
|
|
NM_004453.4(ETFDH):c.1361dup (p.Arg455fs)
|
|
|
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter)
|
rs745714733
|
|
NM_004453.4(ETFDH):c.1417dup (p.Ile473fs)
|
|
|
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
|
|
|
NM_004453.4(ETFDH):c.1447_1454del (p.Pro483fs)
|
|
|
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)
|
rs1774616485
|
|
NM_004453.4(ETFDH):c.1454C>G (p.Thr485Ser)
|
|
|
NM_004453.4(ETFDH):c.1457dup (p.Lys487fs)
|
|
|
NM_004453.4(ETFDH):c.1461del (p.Lys487fs)
|
|
|
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)
|
rs534388496
|
|
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)
|
rs1774630121
|
|
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)
|
rs727503919
|
|
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs)
|
rs771393519
|
|
NM_004453.4(ETFDH):c.1646del (p.Asn549fs)
|
|
|
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)
|
rs1469053638
|
|
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
|
|
|
NM_004453.4(ETFDH):c.1656dup (p.Tyr553fs)
|
|
|
NM_004453.4(ETFDH):c.1658_1659del (p.Ile552_Tyr553insTer)
|
|
|
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)
|
|
|
NM_004453.4(ETFDH):c.1691-3C>G
|
|
|
NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys)
|
|
|
NM_004453.4(ETFDH):c.170G>A (p.Trp57Ter)
|
|
|
NM_004453.4(ETFDH):c.1717C>T (p.Gln573Ter)
|
|
|
NM_004453.4(ETFDH):c.175+2T>C
|
|
|
NM_004453.4(ETFDH):c.1795C>T (p.Gln599Ter)
|
|
|
NM_004453.4(ETFDH):c.244T>C (p.Ser82Pro)
|
|
|
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)
|
|
|
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)
|
rs1580396712
|
|
NM_004453.4(ETFDH):c.265_266del (p.Gln89fs)
|
rs1773880008
|
|
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)
|
rs749085653
|
|
NM_004453.4(ETFDH):c.299T>A (p.Val100Glu)
|
|
|
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs)
|
rs796051962
|
|
NM_004453.4(ETFDH):c.336_345del (p.His112fs)
|
|
|
NM_004453.4(ETFDH):c.34+1G>A
|
|
|
NM_004453.4(ETFDH):c.34+5G>C
|
rs1373597092
|
|
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)
|
rs2150305273
|
|
NM_004453.4(ETFDH):c.36del (p.Tyr13fs)
|
rs2150304327
|
|
NM_004453.4(ETFDH):c.393G>A (p.Trp131Ter)
|
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
|
|
|
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)
|
rs878853082
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
NM_004453.4(ETFDH):c.485_487+14delinsT
|
rs796051963
|
|
NM_004453.4(ETFDH):c.488-1G>T
|
rs2150306551
|
|
NM_004453.4(ETFDH):c.524G>A (p.Arg175His)
|
rs121964955
|
|
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)
|
rs369912835
|
|
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer)
|
rs2150304339
|
|
NM_004453.4(ETFDH):c.577del (p.Glu193fs)
|
|
|
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs)
|
rs2150306625
|
|
NM_004453.4(ETFDH):c.606+1G>T
|
|
|
NM_004453.4(ETFDH):c.607-1G>A
|
|
|
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
|
|
|
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)
|
rs1482632936
|
|
NM_004453.4(ETFDH):c.685-1G>A
|
|
|
NM_004453.4(ETFDH):c.685_691delinsTCCAG (p.Ala229fs)
|
|
|
NM_004453.4(ETFDH):c.723del (p.Thr242fs)
|
|
|
NM_004453.4(ETFDH):c.736G>A (p.Glu246Lys)
|
|
|
NM_004453.4(ETFDH):c.783_787del (p.Asp261fs)
|
|
|
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)
|
rs1450977775
|
|
NM_004453.4(ETFDH):c.831+1G>A
|
|
|
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly)
|
rs755907131
|
|
NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys)
|
|
|
NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs)
|
|
|
NM_004453.4(ETFDH):c.972+1del
|
|
|
NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys)
|
|
|
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)
|
rs104894366
|
|
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)
|
rs104894365
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_005138.3(SCO2):c.202G>C (p.Gly68Arg)
|
|
|
NM_005138.3(SCO2):c.225G>A (p.Trp75Ter)
|
|
|
NM_005138.3(SCO2):c.227_230del (p.Leu76fs)
|
|
|
NM_005138.3(SCO2):c.233_236delinsA (p.Leu78_Arg79delinsGln)
|
|
|
NM_005138.3(SCO2):c.256C>T (p.Gln86Ter)
|
rs2069218741
|
|
NM_005138.3(SCO2):c.45_46del (p.Gln16fs)
|
|
|
NM_005138.3(SCO2):c.481C>T (p.Gln161Ter)
|
|
|
NM_005138.3(SCO2):c.514_515dup (p.Asp172fs)
|
|
|
NM_005138.3(SCO2):c.544C>T (p.Gln182Ter)
|
|
|
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
|
|
|
NM_005138.3(SCO2):c.609_610del (p.His203fs)
|
|
|
NM_005138.3(SCO2):c.672_682del (p.Ser225fs)
|
|
|
NM_005159.5(ACTC1):c.312del (p.Thr105fs)
|
rs1891747424
|
|
NM_005159.5(ACTC1):c.635G>A (p.Arg212His)
|
rs397517067
|
|
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys)
|
rs2140430561
|
|
NM_005343.4(HRAS):c.134T>A (p.Val45Asp)
|
rs1028352031
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>T (p.Gly12Val)
|
rs104894230
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg)
|
rs1851242529
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
NM_005343.4(HRAS):c.427G>C (p.Glu143Gln)
|
rs909222512
|
|
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)
|
rs137852814
|
|
NM_005633.4(SOS1):c.196A>G (p.Ser66Gly)
|
|
|
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe)
|
rs781093356
|
|
NM_005633.4(SOS1):c.3092A>G (p.Tyr1031Cys)
|
rs1668861106
|
|
NM_005633.4(SOS1):c.829C>A (p.Pro277Thr)
|
rs1057517871
|
|
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)
|
rs1057518741
|
|
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)
|
rs1057518739
|
|
NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)
|
rs114638163
|
|
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln)
|
rs1057518740
|
|
NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser)
|
rs746064505
|
|
NM_006767.4(LZTR1):c.2070-12C>A
|
rs779677120
|
|
NM_006767.4(LZTR1):c.2509G>A (p.Gly837Ser)
|
rs1924904363
|
|
NM_006767.4(LZTR1):c.272T>C (p.Met91Thr)
|
rs1555927321
|
|
NM_006767.4(LZTR1):c.322G>A (p.Ala108Thr)
|
rs1358951592
|
|
NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr)
|
rs1924227635
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
NM_006912.6(RIT1):c.270G>T (p.Met90Ile)
|
rs483352822
|
|
NM_006939.4(SOS2):c.3347G>A (p.Ser1116Asn)
|
|
|
NM_006939.4(SOS2):c.3380-3_3380-2del
|
rs1883462827
|
|
NM_006939.4(SOS2):c.574A>G (p.Ser192Gly)
|
rs1886005265
|
|
NM_007078.3(LDB3):c.608C>G (p.Ser203Trp)
|
|
|
NM_007078.3(LDB3):c.805A>C (p.Asn269His)
|
rs1367297073
|
|
NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu)
|
rs1848438761
|
|
NM_007373.4(SHOC2):c.506_507delinsC (p.Lys169fs)
|
rs1847643137
|
|
NM_007373.4(SHOC2):c.52G>C (p.Val18Leu)
|
|
|
NM_007373.4(SHOC2):c.836C>T (p.Thr279Ile)
|
rs1848065186
|
|
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)
|
rs113954997
|
|
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)
|
rs1591495767
|
|
NM_014000.3(VCL):c.3158G>A (p.Cys1053Tyr)
|
rs1840287071
|
|
NM_014908.4(DOLK):c.-15C>T
|
rs1272594617
|
|
NM_020297.4(ABCC9):c.1664T>C (p.Phe555Ser)
|
rs1947296046
|
|
NM_020297.4(ABCC9):c.4512+746_4512+747insT
|
rs761784169
|
|
NM_020433.5(JPH2):c.57G>T (p.Glu19Asp)
|
|
|
NM_020433.5(JPH2):c.916A>G (p.Ser306Gly)
|
rs2072594051
|
|
NM_020774.4(MIB1):c.2810A>G (p.Asp937Gly)
|
|
|
NM_020774.4(MIB1):c.2878C>T (p.Gln960Ter)
|
rs1430105900
|
|
NM_020778.5(ALPK3):c.4037G>A (p.Cys1346Tyr)
|
|
|
NM_020778.5(ALPK3):c.4057G>C (p.Gly1353Arg)
|
|
|
NM_020778.5(ALPK3):c.4525C>T (p.Arg1509Trp)
|
|
|
NM_020778.5(ALPK3):c.913C>T (p.Gln305Ter)
|
rs1225841418
|
|
NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)
|
|
|
NM_022114.4(PRDM16):c.534C>A (p.Cys178Ter)
|
rs1643176372
|
|
NM_024422.6(DSC2):c.619G>A (p.Glu207Lys)
|
rs200634448
|
|
NM_030662.4(MAP2K2):c.1042A>G (p.Lys348Glu)
|
rs1460336485
|
|
NM_030662.4(MAP2K2):c.300G>T (p.Arg100Ser)
|
rs2041236830
|
|
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)
|
rs730880471
|
|
NM_133379.5(TTN):c.11148G>C (p.Lys3716Asn)
|
|
|
NM_144573.4(NEXN):c.1640T>A (p.Ile547Asn)
|
rs753636624
|
|
NM_144573.4(NEXN):c.178C>T (p.Gln60Ter)
|
rs1649088164
|
|
NM_144573.4(NEXN):c.859C>T (p.Gln287Ter)
|
rs1402442744
|
|
NM_152594.3(SPRED1):c.382C>G (p.Pro128Ala)
|
rs1895677013
|
|
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter)
|
rs1057518683
|
|
NM_170707.4(LMNA):c.133T>C (p.Tyr45His)
|
rs1649714371
|
|
NM_170707.4(LMNA):c.810+17G>A
|
rs771192755
|
|
NM_170707.4(LMNA):c.890T>A (p.Ile297Asn)
|
rs1060502212
|
|
NM_176795.5(HRAS):c.488_497del (p.Leu163fs)
|
rs764755556
|
|
NM_182914.3(SYNE2):c.17554A>C (p.Lys5852Gln)
|
rs886043099
|
|
NM_182914.3(SYNE2):c.2279A>G (p.Asp760Gly)
|
rs1594681467
|
|
NM_182914.3(SYNE2):c.8825T>C (p.Ile2942Thr)
|
rs2097236781
|
|
NM_182914.3(SYNE2):c.9610T>G (p.Cys3204Gly)
|
rs531451940
|
|
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val)
|
rs748579024
|
|
NM_182961.4(SYNE1):c.12066C>G (p.Ser4022Arg)
|
|
|
NM_182961.4(SYNE1):c.17521G>A (p.Ala5841Thr)
|
rs2095189465
|
|
NM_182961.4(SYNE1):c.19260+2T>C
|
rs1588855714
|
|
NM_182961.4(SYNE1):c.20136C>G (p.Ile6712Met)
|
rs761906590
|
|
NM_182961.4(SYNE1):c.21195+14G>C
|
rs2082553069
|
|
NM_182961.4(SYNE1):c.5728A>G (p.Asn1910Asp)
|
rs1459660658
|
|
NM_182961.4(SYNE1):c.5980A>G (p.Ile1994Val)
|
rs2098156852
|
|
NM_182961.4(SYNE1):c.6128A>T (p.Lys2043Met)
|
rs1015453687
|
|
NM_182961.4(SYNE1):c.6412A>G (p.Lys2138Glu)
|
rs2097962380
|
|
NM_182961.4(SYNE1):c.8882A>G (p.Gln2961Arg)
|
rs1366579684
|
|
NM_182961.4(SYNE1):c.9220A>G (p.Arg3074Gly)
|
rs2097283597
|
|
NM_198060.4(NRAP):c.3703-1G>T
|
|
|