ClinVar Miner

List of variants studied for cardiomyopathy by Baylor Genetics

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1518
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HGVS dbSNP gnomAD frequency
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

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