ClinVar Miner

List of variants reported as uncertain significance for Primary dilated cardiomyopathy

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ClinVar version:
Total variants: 1657
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HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.*319A>G rs142439928 0.00587
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_014391.3(ANKRD1):c.*343A>G rs41286920 0.00174
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206 0.00100
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_014391.2(ANKRD1):c.-79C>T rs369861544 0.00095
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_014391.3(ANKRD1):c.369G>A (p.Thr123=) rs148979787 0.00069
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021 0.00064
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His) rs201971987 0.00052
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_006393.3(NEBL):c.277A>G (p.Ile93Val) rs762884881 0.00044
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703 0.00037
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser) rs148189486 0.00037
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys) rs140148322 0.00036
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_013266.4(CTNNA3):c.2573T>C (p.Leu858Ser) rs41313840 0.00028
NM_014391.3(ANKRD1):c.*642G>A rs184423047 0.00027
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser) rs185746835 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp) rs199867593 0.00024
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys) rs201810836 0.00023
NM_004006.3(DMD):c.1337A>G (p.His446Arg) rs72468699 0.00023
NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly) rs925920723 0.00023
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys) rs201193346 0.00022
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys) rs374888837 0.00021
NM_014391.2(ANKRD1):c.-167C>T rs568634889 0.00021
NM_001267550.2(TTN):c.48460+5G>A rs374413644 0.00020
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273 0.00020
NM_000335.5(SCN5A):c.998+5G>A rs187531872 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273 0.00019
NM_006393.3(NEBL):c.14T>C (p.Val5Ala) rs145770601 0.00019
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter) rs146471913 0.00019
NM_006440.5(TXNRD2):c.221C>G (p.Ser74Cys) rs200942544 0.00019
NM_006440.5(TXNRD2):c.662C>T (p.Thr221Met) rs188258380 0.00019
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) rs143501870 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His) rs72629782 0.00017
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001267550.2(TTN):c.53881+5G>A rs753527304 0.00016
NM_001458.5(FLNC):c.1108A>G (p.Met370Val) rs370406338 0.00016
NM_002230.4(JUP):c.1924+8G>C rs730880115 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_006393.3(NEBL):c.2101C>A (p.Pro701Thr) rs371551337 0.00016
NM_006393.3(NEBL):c.258+1G>A rs139581346 0.00016
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr) rs749057584 0.00016
NM_006440.5(TXNRD2):c.591+1G>C rs200610775 0.00016
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu) rs730880184 0.00014
NM_001318895.3(FHL2):c.523A>C (p.Thr175Pro) rs200116659 0.00014
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser) rs148962966 0.00014
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg) rs759348679 0.00014
NM_006393.3(NEBL):c.1227+5G>A rs370026081 0.00014
NM_006393.3(NEBL):c.1864A>C (p.Ser622Arg) rs142157051 0.00014
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp) rs61736941 0.00014
NM_006440.5(TXNRD2):c.199G>A (p.Val67Met) rs372803804 0.00014
NM_006440.5(TXNRD2):c.259G>A (p.Val87Ile) rs201658653 0.00014
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001318895.3(FHL2):c.512C>T (p.Thr171Met) rs727504674 0.00013
NM_006440.5(TXNRD2):c.1475G>A (p.Arg492Gln) rs368561764 0.00013
NM_006440.5(TXNRD2):c.821G>A (p.Arg274Gln) rs374364917 0.00013
NM_014391.3(ANKRD1):c.*489G>A rs192827821 0.00013
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_006393.3(NEBL):c.214C>A (p.Pro72Thr) rs150000482 0.00012
NM_006440.5(TXNRD2):c.623G>A (p.Ser208Asn) rs201531690 0.00012
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val) rs730880170 0.00012
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) rs142354704 0.00012
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser) rs143638361 0.00011
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr) rs397516720 0.00011
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) rs372716177 0.00011
NM_001267550.2(TTN):c.11113del (p.Arg3705fs) rs746386040 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_006393.3(NEBL):c.523G>A (p.Ala175Thr) rs71541562 0.00011
NM_006440.5(TXNRD2):c.1177G>A (p.Asp393Asn) rs369142382 0.00011
NM_007078.3(LDB3):c.794G>A (p.Arg265His) rs45458895 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp) rs374926367 0.00011
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) rs758166168 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_006393.3(NEBL):c.1674A>C (p.Arg558Ser) rs376405982 0.00010
NM_006393.3(NEBL):c.2344A>G (p.Met782Val) rs200574474 0.00010
NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln) rs373979810 0.00010
NM_014391.2(ANKRD1):c.-102C>T rs549813663 0.00010
NM_014391.2(ANKRD1):c.-131C>T rs538475043 0.00010
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala) rs376945733 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_001318895.3(FHL2):c.392G>A (p.Arg131His) rs371421189 0.00009
NM_001318895.3(FHL2):c.820G>A (p.Asp274Asn) rs145070796 0.00009
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_006393.3(NEBL):c.1652C>T (p.Thr551Ile) rs191012363 0.00009
NM_006440.5(TXNRD2):c.1549C>T (p.Pro517Ser) rs756196216 0.00009
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys) rs557142042 0.00009
NM_170707.4(LMNA):c.1390A>G (p.Met464Val) rs200262654 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly) rs146020545 0.00008
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_006393.3(NEBL):c.1540G>T (p.Ala514Ser) rs781572930 0.00008
NM_006393.3(NEBL):c.1946A>G (p.Gln649Arg) rs770416802 0.00008
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr) rs373839226 0.00008
NM_170707.4(LMNA):c.1488+6T>G rs369642101 0.00008
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met) rs765594825 0.00008
NM_000116.5(TAFAZZIN):c.*618A>G rs781924638 0.00007
NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys) rs397516075 0.00007
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_006393.3(NEBL):c.1366A>G (p.Ile456Val) rs144402571 0.00007
NM_006393.3(NEBL):c.2848A>G (p.Met950Val) rs201838351 0.00007
NM_006393.3(NEBL):c.535C>T (p.Arg179Ter) rs370153729 0.00007
NM_006440.5(TXNRD2):c.175G>A (p.Ala59Thr) rs752863555 0.00007
NM_006440.5(TXNRD2):c.611A>G (p.Tyr204Cys) rs199765650 0.00007
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys) rs369486891 0.00007
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met) rs371552806 0.00006
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys) rs199473048 0.00006
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) rs184709702 0.00006
NM_001105206.3(LAMA4):c.631A>C (p.Asn211His) rs371848733 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.39895+1G>T rs749931280 0.00006
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) rs188323108 0.00006
NM_002471.4(MYH6):c.4216G>A (p.Val1406Met) rs201566738 0.00006
NM_006393.3(NEBL):c.1225G>A (p.Glu409Lys) rs767565380 0.00006
NM_006393.3(NEBL):c.1258A>G (p.Ile420Val) rs761905318 0.00006
NM_006393.3(NEBL):c.1715C>T (p.Ser572Phe) rs778833975 0.00006
NM_006393.3(NEBL):c.1721T>C (p.Ile574Thr) rs754884291 0.00006
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile) rs367986765 0.00006
NM_006393.3(NEBL):c.326T>C (p.Ile109Thr) rs371620771 0.00006
NM_006393.3(NEBL):c.430G>C (p.Glu144Gln) rs147430943 0.00006
NM_006393.3(NEBL):c.56G>A (p.Gly19Glu) rs727503338 0.00006
NM_006393.3(NEBL):c.740A>G (p.Asn247Ser) rs147901148 0.00006
NM_006440.5(TXNRD2):c.1091G>A (p.Arg364Gln) rs199734322 0.00006
NM_006440.5(TXNRD2):c.1126A>G (p.Arg376Gly) rs371547623 0.00006
NM_006440.5(TXNRD2):c.1157C>A (p.Ser386Tyr) rs377598025 0.00006
NM_006440.5(TXNRD2):c.1559C>G (p.Thr520Arg) rs774708598 0.00006
NM_006440.5(TXNRD2):c.820C>T (p.Arg274Trp) rs571571452 0.00006
NM_014000.3(VCL):c.2531C>T (p.Pro844Leu) rs145393322 0.00006
NM_014391.3(ANKRD1):c.544C>T (p.Arg182Cys) rs754717867 0.00006
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453 0.00006
NM_022114.4(PRDM16):c.3352G>A (p.Val1118Met) rs542279737 0.00006
NM_022114.4(PRDM16):c.76C>T (p.Arg26Trp) rs769704263 0.00006
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478 0.00006
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val) rs181848049 0.00006
NM_032578.4(MYPN):c.3886T>A (p.Ser1296Thr) rs199585352 0.00006
NM_133379.5(TTN):c.13939del (p.Glu4647fs) rs781363456 0.00006
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 0.00006
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_170707.4(LMNA):c.937-7C>G rs267607681 0.00006
NM_201384.3(PLEC):c.1123G>A (p.Val375Met) rs199866423 0.00006
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile) rs144200285 0.00005
NM_001267550.2(TTN):c.31762G>A (p.Val10588Ile) rs372371333 0.00005
NM_001318895.3(FHL2):c.374C>A (p.Thr125Asn) rs773356788 0.00005
NM_001318895.3(FHL2):c.725G>A (p.Arg242Gln) rs188279857 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_004006.3(DMD):c.2245A>G (p.Ile749Val) rs771803281 0.00005
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser) rs548695484 0.00005
NM_006393.3(NEBL):c.1117-3C>T rs376080967 0.00005
NM_006393.3(NEBL):c.2092A>G (p.Ile698Val) rs565742208 0.00005
NM_006393.3(NEBL):c.259-2A>T rs904604682 0.00005
NM_006440.5(TXNRD2):c.1348-2A>G rs768600057 0.00005
NM_006440.5(TXNRD2):c.1413C>T (p.Gly471=) rs753841469 0.00005
NM_006440.5(TXNRD2):c.235C>T (p.Arg79Trp) rs762060966 0.00005
NM_006440.5(TXNRD2):c.850G>C (p.Val284Leu) rs201177571 0.00005
NM_006440.5(TXNRD2):c.917C>T (p.Thr306Met) rs371153395 0.00005
NM_133379.5(TTN):c.16135C>T (p.Pro5379Ser) rs182516675 0.00005
NM_144573.4(NEXN):c.865-5G>A rs727505353 0.00005
NM_170707.4(LMNA):c.*6G>A rs397517885 0.00005
NM_170707.4(LMNA):c.329G>A (p.Arg110His) rs556237236 0.00005
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_201384.3(PLEC):c.9424G>A (p.Gly3142Ser) rs373523333 0.00005
NM_000256.3(MYBPC3):c.1091C>T (p.Ala364Val) rs778161908 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile) rs750117613 0.00004
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe) rs758054052 0.00004
NM_001267550.2(TTN):c.2494G>T (p.Ala832Ser) rs376133574 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys) rs776478343 0.00004
NM_001318895.3(FHL2):c.121G>A (p.Glu41Lys) rs552625336 0.00004
NM_001318895.3(FHL2):c.430A>G (p.Lys144Glu) rs770284685 0.00004
NM_001318895.3(FHL2):c.782G>A (p.Arg261His) rs371759004 0.00004
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met) rs200977103 0.00004
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu) rs771104668 0.00004
NM_002471.4(MYH6):c.1171C>A (p.Leu391Met) rs869025472 0.00004
NM_004006.3(DMD):c.2251C>T (p.Arg751Trp) rs373475448 0.00004
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) rs537588390 0.00004
NM_005477.3(HCN4):c.559G>A (p.Ala187Thr) rs761571946 0.00004
NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala) rs200794965 0.00004
NM_005681.4(TAF1A):c.1021G>A (p.Gly341Arg) rs765321518 0.00004
NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser) rs375569591 0.00004
NM_006393.3(NEBL):c.1227+4C>T rs373813159 0.00004
NM_006393.3(NEBL):c.1316G>A (p.Arg439Gln) rs755916272 0.00004
NM_006393.3(NEBL):c.1667G>C (p.Ser556Thr) rs373244101 0.00004
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe) rs543765307 0.00004
NM_006393.3(NEBL):c.1997C>T (p.Pro666Leu) rs771905060 0.00004
NM_006393.3(NEBL):c.2006T>C (p.Met669Thr) rs375197621 0.00004
NM_006393.3(NEBL):c.2012C>T (p.Pro671Leu) rs770107953 0.00004
NM_006393.3(NEBL):c.2323del (p.Glu775fs) rs776502857 0.00004
NM_006393.3(NEBL):c.241G>A (p.Gly81Ser) rs369862013 0.00004
NM_006393.3(NEBL):c.2445G>A (p.Val815=) rs578252294 0.00004
NM_006393.3(NEBL):c.2718C>A (p.Ser906Arg) rs768402237 0.00004
NM_006393.3(NEBL):c.310C>T (p.Arg104Trp) rs548671032 0.00004
NM_006393.3(NEBL):c.311G>A (p.Arg104Gln) rs537661572 0.00004
NM_006393.3(NEBL):c.412G>C (p.Asp138His) rs561316471 0.00004
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr) rs142138590 0.00004
NM_006393.3(NEBL):c.715A>G (p.Met239Val) rs1037792824 0.00004
NM_006393.3(NEBL):c.721G>A (p.Asp241Asn) rs372364915 0.00004
NM_006393.3(NEBL):c.815A>G (p.Asp272Gly) rs778861859 0.00004
NM_006393.3(NEBL):c.872A>G (p.His291Arg) rs147853594 0.00004
NM_006393.3(NEBL):c.903C>T (p.Gly301=) rs200799762 0.00004
NM_006440.5(TXNRD2):c.1001C>T (p.Thr334Ile) rs780014083 0.00004
NM_006440.5(TXNRD2):c.1054C>A (p.Pro352Thr) rs1388529732 0.00004
NM_006440.5(TXNRD2):c.1376T>C (p.Leu459Pro) rs776104767 0.00004
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg) rs759298418 0.00004
NM_006440.5(TXNRD2):c.1406A>G (p.Asn469Ser) rs757704344 0.00004
NM_006440.5(TXNRD2):c.1436T>C (p.Leu479Pro) rs756559860 0.00004
NM_006440.5(TXNRD2):c.1514T>A (p.Val505Asp) rs759613137 0.00004
NM_006440.5(TXNRD2):c.1522C>T (p.Arg508Cys) rs368176907 0.00004
NM_006440.5(TXNRD2):c.40C>T (p.Arg14Cys) rs1259706318 0.00004
NM_006440.5(TXNRD2):c.449+4C>T rs755751835 0.00004
NM_006440.5(TXNRD2):c.461A>T (p.Tyr154Phe) rs886509891 0.00004
NM_006440.5(TXNRD2):c.595G>A (p.Glu199Lys) rs763888077 0.00004
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys) rs183950022 0.00004
NM_014391.3(ANKRD1):c.821A>G (p.Tyr274Cys) rs374486076 0.00004
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val) rs144770680 0.00004
NM_014391.3(ANKRD1):c.881A>G (p.His294Arg) rs754657888 0.00004
NM_015978.3(TNNI3K):c.500T>C (p.Phe167Ser) rs201917013 0.00004
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser) rs750258756 0.00004
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter) rs199896820 0.00004
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter) rs148430495 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_170707.4(LMNA):c.1196G>A (p.Arg399His) rs267607563 0.00004
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys) rs755686359 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_170707.4(LMNA):c.1556C>T (p.Thr519Ile) rs753988867 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_170707.4(LMNA):c.1664A>G (p.Asp555Gly) rs141578711 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.467G>A (p.Arg156His) rs764475194 0.00004
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser) rs760388350 0.00004
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364 0.00004
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000257.4(MYH7):c.161G>A (p.Arg54Gln) rs397516117 0.00003
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_000426.4(LAMA2):c.2735C>T (p.Ala912Val) rs376580266 0.00003
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys) rs1208347768 0.00003
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395 0.00003
NM_001035.3(RYR2):c.8209-4T>C rs371966353 0.00003
NM_001077653.2(TBX20):c.994C>T (p.Pro332Ser) rs201431768 0.00003
NM_001267550.2(TTN):c.1245+3A>G rs757221300 0.00003
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile) rs763955552 0.00003
NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His) rs544353741 0.00003
NM_001267550.2(TTN):c.9164-2A>T rs777369921 0.00003
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met) rs191708454 0.00003
NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys) rs371142225 0.00003
NM_001289808.2(CRYAB):c.31C>T (p.Arg11Cys) rs781902168 0.00003
NM_001318895.3(FHL2):c.281C>T (p.Ser94Phe) rs201826187 0.00003
NM_001318895.3(FHL2):c.487G>A (p.Val163Ile) rs753660280 0.00003
NM_001318895.3(FHL2):c.688G>A (p.Gly230Arg) rs534279240 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys) rs769756450 0.00003
NM_004415.4(DSP):c.344A>G (p.Asn115Ser) rs28763958 0.00003
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr) rs869025394 0.00003
NM_004517.4(ILK):c.734T>A (p.Phe245Tyr) rs869025438 0.00003
NM_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 0.00003
NM_006393.3(NEBL):c.113G>T (p.Ser38Ile) rs375265257 0.00003
NM_006393.3(NEBL):c.1639C>T (p.Arg547Ter) rs149647815 0.00003
NM_006393.3(NEBL):c.2041G>A (p.Glu681Lys) rs1060503679 0.00003
NM_006393.3(NEBL):c.2148+1G>A rs762179161 0.00003
NM_006393.3(NEBL):c.2401G>A (p.Val801Met) rs772136984 0.00003
NM_006393.3(NEBL):c.2518+6C>G rs771316603 0.00003
NM_006393.3(NEBL):c.2533C>T (p.Arg845Cys) rs776914197 0.00003
NM_006393.3(NEBL):c.2596C>T (p.Leu866Phe) rs373721327 0.00003
NM_006393.3(NEBL):c.2644C>T (p.Arg882Ter) rs151012132 0.00003
NM_006393.3(NEBL):c.2841G>A (p.Met947Ile) rs745574506 0.00003
NM_006393.3(NEBL):c.536G>A (p.Arg179Gln) rs750476653 0.00003
NM_006393.3(NEBL):c.670A>G (p.Lys224Glu) rs148079637 0.00003
NM_006393.3(NEBL):c.795C>G (p.Ser265Arg) rs368513995 0.00003
NM_006393.3(NEBL):c.798+1G>A rs746179839 0.00003
NM_006393.3(NEBL):c.903+1G>T rs775057540 0.00003
NM_006393.3(NEBL):c.904C>T (p.Arg302Ter) rs149737043 0.00003
NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln) rs201349663 0.00003
NM_006440.5(TXNRD2):c.1446G>T (p.Lys482Asn) rs371797598 0.00003
NM_006440.5(TXNRD2):c.1453G>T (p.Ala485Ser) rs960962542 0.00003
NM_006440.5(TXNRD2):c.1535G>A (p.Arg512His) rs375708279 0.00003
NM_006440.5(TXNRD2):c.544G>A (p.Asp182Asn) rs752857898 0.00003
NM_006440.5(TXNRD2):c.572G>A (p.Arg191Gln) rs730880248 0.00003
NM_014391.3(ANKRD1):c.*627A>G rs886047475 0.00003
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu) rs397514744 0.00003
NM_032578.4(MYPN):c.2150C>T (p.Thr717Met) rs141276802 0.00003
NM_133379.5(TTN):c.12538T>A (p.Cys4180Ser) rs548549470 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln) rs61177390 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_170707.4(LMNA):c.1362G>A (p.Leu454=) rs151160622 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_000116.5(TAFAZZIN):c.*33G>A rs782129745 0.00002
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) rs781986219 0.00002
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) rs782564325 0.00002
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) rs372371774 0.00002
NM_000257.4(MYH7):c.1856C>T (p.Thr619Ile) rs541143322 0.00002
NM_000257.4(MYH7):c.3853+1G>A rs202031879 0.00002
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr) rs199473140 0.00002
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala) rs867374780 0.00002
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe) rs375619307 0.00002
NM_001267550.2(TTN):c.12208G>A (p.Glu4070Lys) rs397517830 0.00002
NM_001267550.2(TTN):c.33164C>T (p.Pro11055Leu) rs193051231 0.00002
NM_001318895.3(FHL2):c.175C>T (p.Arg59Trp) rs753335287 0.00002
NM_001318895.3(FHL2):c.274T>C (p.Cys92Arg) rs149138019 0.00002
NM_001318895.3(FHL2):c.275G>A (p.Cys92Tyr) rs765835400 0.00002
NM_001318895.3(FHL2):c.332-6T>A rs754744445 0.00002
NM_001318895.3(FHL2):c.644A>C (p.Asp215Ala) rs758618755 0.00002
NM_001458.5(FLNC):c.5408G>A (p.Arg1803Gln) rs757482925 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_006393.3(NEBL):c.1110A>C (p.Gln370His) rs1267119039 0.00002
NM_006393.3(NEBL):c.1279C>T (p.Leu427Phe) rs770142870 0.00002
NM_006393.3(NEBL):c.1429G>C (p.Ala477Pro) rs758358892 0.00002
NM_006393.3(NEBL):c.16T>C (p.Phe6Leu) rs777445403 0.00002
NM_006393.3(NEBL):c.1963-13C>T rs727504904 0.00002
NM_006393.3(NEBL):c.2026G>A (p.Val676Met) rs149878829 0.00002
NM_006393.3(NEBL):c.2044C>T (p.Gln682Ter) rs763512999 0.00002
NM_006393.3(NEBL):c.2104C>T (p.Pro702Ser) rs780795108 0.00002
NM_006393.3(NEBL):c.2108A>G (p.Glu703Gly) rs907637021 0.00002
NM_006393.3(NEBL):c.218T>C (p.Met73Thr) rs374218451 0.00002
NM_006393.3(NEBL):c.2241G>A (p.Ser747=) rs377702958 0.00002
NM_006393.3(NEBL):c.2310G>A (p.Met770Ile) rs200334335 0.00002
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter) rs752922937 0.00002
NM_006393.3(NEBL):c.2485G>A (p.Val829Met) rs727504979 0.00002
NM_006393.3(NEBL):c.2645G>A (p.Arg882Gln) rs758877499 0.00002
NM_006393.3(NEBL):c.2868A>G (p.Leu956=) rs779415582 0.00002
NM_006393.3(NEBL):c.36A>C (p.Glu12Asp) rs368491819 0.00002
NM_006393.3(NEBL):c.571A>T (p.Ile191Phe) rs746403443 0.00002
NM_006393.3(NEBL):c.599G>C (p.Gly200Ala) rs727503336 0.00002
NM_006393.3(NEBL):c.650A>G (p.Glu217Gly) rs755291598 0.00002
NM_006393.3(NEBL):c.807C>G (p.Tyr269Ter) rs748781067 0.00002
NM_006440.5(TXNRD2):c.104-3C>G rs746380381 0.00002
NM_006440.5(TXNRD2):c.1090C>T (p.Arg364Trp) rs772667712 0.00002
NM_006440.5(TXNRD2):c.1123G>A (p.Gly375Arg) rs757239766 0.00002
NM_006440.5(TXNRD2):c.112C>T (p.Arg38Trp) rs1044687486 0.00002
NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter) rs200162480 0.00002
NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln) rs759374389 0.00002
NM_006440.5(TXNRD2):c.1348-9G>A rs774694967 0.00002
NM_006440.5(TXNRD2):c.1463C>T (p.Ala488Val) rs752947034 0.00002
NM_006440.5(TXNRD2):c.1534C>T (p.Arg512Cys) rs201943415 0.00002
NM_006440.5(TXNRD2):c.214G>A (p.Glu72Lys) rs779740988 0.00002
NM_006440.5(TXNRD2):c.361G>A (p.Val121Met) rs756368327 0.00002
NM_006440.5(TXNRD2):c.417del (p.Asn140fs) rs780054798 0.00002
NM_006440.5(TXNRD2):c.571C>T (p.Arg191Trp) rs751123675 0.00002
NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp) rs200981451 0.00002
NM_006440.5(TXNRD2):c.868G>A (p.Gly290Ser) rs777357363 0.00002
NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val) rs543290126 0.00002
NM_006440.5(TXNRD2):c.969A>C (p.Arg323Ser) rs765171416 0.00002
NM_007078.3(LDB3):c.1703G>A (p.Arg568His) rs769156627 0.00002
NM_014391.3(ANKRD1):c.909C>T (p.Phe303=) rs765093690 0.00002
NM_014476.6(PDLIM3):c.476T>A (p.Ile159Asn) rs730880177 0.00002
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp) rs770850932 0.00002
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 0.00002
NM_133379.5(TTN):c.13022C>G (p.Ser4341Ter) rs763408700 0.00002
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu) rs61693978 0.00002
NM_170707.4(LMNA):c.1190G>A (p.Arg397His) rs747952058 0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu) rs59601651 0.00002
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys) rs777841827 0.00002
NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser) rs752598065 0.00002
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter) rs267607544 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) rs766856162 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys) rs370134870 0.00002
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu) rs61578124 0.00002
NM_170707.4(LMNA):c.884C>T (p.Ser295Leu) rs769210828 0.00002
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys) rs375987939 0.00002
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NM_182914.3(SYNE2):c.9392A>G (p.Asp3131Gly) rs730880220 0.00002
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000232.5(SGCB):c.680G>A (p.Arg227His) rs762079028 0.00001
NM_000256.3(MYBPC3):c.1433C>T (p.Ser478Leu) rs730880540 0.00001
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278 0.00001
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met) rs772442923 0.00001
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln) rs1287612987 0.00001
NM_000257.4(MYH7):c.4390C>T (p.Gln1464Ter) rs754829218 0.00001
NM_000257.4(MYH7):c.4822C>T (p.Arg1608Cys) rs746571601 0.00001
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) rs730880914 0.00001
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821 0.00001
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln) rs45520836 0.00001
NM_000257.4(MYH7):c.821T>C (p.Ile274Thr) rs773456019 0.00001
NM_000335.5(SCN5A):c.1036G>A (p.Glu346Lys) rs368552426 0.00001
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.3371C>G (p.Ala1124Gly) rs730880206 0.00001
NM_000335.5(SCN5A):c.5100G>T (p.Met1700Ile) rs769843988 0.00001
NM_000426.4(LAMA2):c.470C>G (p.Ser157Cys) rs756699354 0.00001
NM_000432.4(MYL2):c.31G>A (p.Gly11Arg) rs397516402 0.00001
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) rs104894501 0.00001
NM_001018005.2(TPM1):c.257C>G (p.Ala86Gly) rs757577112 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001032283.3(TMPO):c.565+1165G>C rs191275106 0.00001
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro) rs753758467 0.00001
NM_001035.3(RYR2):c.2203+3_2203+4dup rs730880376 0.00001
NM_001105206.3(LAMA4):c.1121G>A (p.Ser374Asn) rs869025449 0.00001
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) rs876657970 0.00001
NM_001134363.3(RBM20):c.1281G>A (p.Trp427Ter) rs869025504 0.00001
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys) rs535839168 0.00001
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys) rs1478721868 0.00001
NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter) rs769023413 0.00001
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184 0.00001
NM_001267550.2(TTN):c.10592C>G (p.Ser3531Ter) rs767420661 0.00001
NM_001267550.2(TTN):c.10852C>T (p.Gln3618Ter) rs779064556 0.00001
NM_001267550.2(TTN):c.12026A>G (p.Tyr4009Cys) rs753367343 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter) rs770579313 0.00001
NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter) rs748111134 0.00001
NM_001267550.2(TTN):c.27328+5G>A rs397517521 0.00001
NM_001267550.2(TTN):c.27607G>A (p.Glu9203Lys) rs769097909 0.00001
NM_001267550.2(TTN):c.31426+1G>C rs6749719 0.00001
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter) rs150954246 0.00001
NM_001267550.2(TTN):c.33418+1G>A rs746588865 0.00001
NM_001267550.2(TTN):c.35338G>A (p.Glu11780Lys) rs2066744414 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.57544+4A>G rs869312053 0.00001
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter) rs869312098 0.00001
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313 0.00001
NM_001267550.2(TTN):c.71348G>A (p.Arg23783His) rs145504744 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001267550.2(TTN):c.75123T>A (p.Tyr25041Ter) rs753526510 0.00001
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val) rs727504501 0.00001
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys) rs531432790 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.94748G>A (p.Arg31583His) rs727503544 0.00001
NM_001267550.2(TTN):c.97192+4A>G rs370069759 0.00001
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly) rs191054704 0.00001
NM_001267550.2(TTN):c.98917A>G (p.Ile32973Val) rs773080115 0.00001
NM_001318895.3(FHL2):c.104T>G (p.Leu35Arg) rs1470032926 0.00001
NM_001318895.3(FHL2):c.130G>A (p.Gly44Arg) rs780938900 0.00001
NM_001318895.3(FHL2):c.176G>A (p.Arg59Gln) rs766070936 0.00001
NM_001318895.3(FHL2):c.193T>C (p.Cys65Arg) rs768709080 0.00001
NM_001318895.3(FHL2):c.211T>G (p.Cys71Gly) rs1255979544 0.00001
NM_001318895.3(FHL2):c.224T>G (p.Leu75Arg) rs1208356626 0.00001
NM_001318895.3(FHL2):c.406A>G (p.Ile136Val) rs780774664 0.00001
NM_001318895.3(FHL2):c.509C>T (p.Thr170Ile) rs750539692 0.00001
NM_001318895.3(FHL2):c.595C>T (p.Arg199Cys) rs373259092 0.00001
NM_001318895.3(FHL2):c.72G>C (p.Glu24Asp) rs781170250 0.00001
NM_001318895.3(FHL2):c.739G>A (p.Asp247Asn) rs769888361 0.00001
NM_001318895.3(FHL2):c.815G>A (p.Cys272Tyr) rs773266937 0.00001
NM_001386795.1(DTNA):c.2200G>A (p.Asp734Asn) rs769251451 0.00001
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys) rs1422233407 0.00001
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp) rs990718751 0.00001
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp) rs1460797312 0.00001
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593 0.00001
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) rs727505208 0.00001
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu) rs139454583 0.00001
NM_002294.3(LAMP2):c.214G>A (p.Val72Met) rs778193991 0.00001
NM_002471.4(MYH6):c.3133A>G (p.Lys1045Glu) rs869025474 0.00001
NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys) rs1314169075 0.00001
NM_002667.5(PLN):c.73C>T (p.Arg25Cys) rs761056344 0.00001
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val) rs397516848 0.00001
NM_003673.4(TCAP):c.49C>T (p.Arg17Cys) rs869025530 0.00001
NM_004006.3(DMD):c.2972A>G (p.Glu991Gly) rs747374618 0.00001
NM_004006.3(DMD):c.4449G>A (p.Met1483Ile) rs765355046 0.00001
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser) rs768055345 0.00001
NM_004281.4(BAG3):c.322G>A (p.Val108Met) rs730880053 0.00001
NM_004281.4(BAG3):c.55C>T (p.Arg19Cys) rs727502896 0.00001
NM_004281.4(BAG3):c.881G>A (p.Arg294His) rs151335530 0.00001
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln) rs41302883 0.00001
NM_004415.4(DSP):c.8477G>A (p.Arg2826His) rs548754771 0.00001
NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr) rs758699499 0.00001
NM_005633.4(SOS1):c.2728G>C (p.Asp910His) rs369277679 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005751.5(AKAP9):c.2478A>G (p.Ile826Met) rs777349648 0.00001
NM_005751.5(AKAP9):c.3448C>T (p.Leu1150Phe) rs750350575 0.00001
NM_006393.3(NEBL):c.1003A>C (p.Ser335Arg) rs771769135 0.00001
NM_006393.3(NEBL):c.103G>A (p.Glu35Lys) rs878854902 0.00001
NM_006393.3(NEBL):c.1079A>T (p.Tyr360Phe) rs1317887456 0.00001
NM_006393.3(NEBL):c.1130A>G (p.Glu377Gly) rs373129570 0.00001
NM_006393.3(NEBL):c.1144G>A (p.Glu382Lys) rs749629919 0.00001
NM_006393.3(NEBL):c.1207A>G (p.Ile403Val) rs200534792 0.00001
NM_006393.3(NEBL):c.1208T>C (p.Ile403Thr) rs766378863 0.00001
NM_006393.3(NEBL):c.1246T>G (p.Leu416Val) rs1473800986 0.00001
NM_006393.3(NEBL):c.1367T>C (p.Ile456Thr) rs761169055 0.00001
NM_006393.3(NEBL):c.1441G>A (p.Ala481Thr) rs1291010559 0.00001
NM_006393.3(NEBL):c.1442C>T (p.Ala481Val) rs1237891829 0.00001
NM_006393.3(NEBL):c.149G>A (p.Ser50Asn) rs1207801626 0.00001
NM_006393.3(NEBL):c.153+5G>A rs766864066 0.00001
NM_006393.3(NEBL):c.1541C>T (p.Ala514Val) rs1256153819 0.00001
NM_006393.3(NEBL):c.1543T>A (p.Ser515Thr) rs990217100 0.00001
NM_006393.3(NEBL):c.1546G>A (p.Glu516Lys) rs45461595 0.00001
NM_006393.3(NEBL):c.1549A>G (p.Met517Val) rs1430856878 0.00001
NM_006393.3(NEBL):c.157C>T (p.Arg53Cys) rs759216770 0.00001
NM_006393.3(NEBL):c.1608G>T (p.Met536Ile) rs794729078 0.00001
NM_006393.3(NEBL):c.1611A>C (p.Gln537His) rs865956162 0.00001
NM_006393.3(NEBL):c.1613T>A (p.Val538Glu) rs534382445 0.00001
NM_006393.3(NEBL):c.1773T>G (p.Ser591Arg) rs1206155356 0.00001
NM_006393.3(NEBL):c.1776G>A (p.Ala592=) rs113406843 0.00001
NM_006393.3(NEBL):c.1826C>G (p.Pro609Arg) rs942030467 0.00001
NM_006393.3(NEBL):c.1879A>G (p.Lys627Glu) rs766695780 0.00001
NM_006393.3(NEBL):c.1961A>T (p.Asn654Ile) rs1839521789 0.00001
NM_006393.3(NEBL):c.1993A>C (p.Thr665Pro) rs936216558 0.00001
NM_006393.3(NEBL):c.1996C>T (p.Pro666Ser) rs772963438 0.00001
NM_006393.3(NEBL):c.2002A>G (p.Ser668Gly) rs774221912 0.00001
NM_006393.3(NEBL):c.2033G>A (p.Arg678Gln) rs774294999 0.00001
NM_006393.3(NEBL):c.2105C>T (p.Pro702Leu) rs1838860400 0.00001
NM_006393.3(NEBL):c.2174G>C (p.Arg725Thr) rs772956028 0.00001
NM_006393.3(NEBL):c.2241+6T>C rs757456889 0.00001
NM_006393.3(NEBL):c.2297A>T (p.Asp766Val) rs1479921102 0.00001
NM_006393.3(NEBL):c.2308A>G (p.Met770Val) rs745738658 0.00001
NM_006393.3(NEBL):c.2390T>C (p.Phe797Ser) rs1838312385 0.00001
NM_006393.3(NEBL):c.2407G>A (p.Asp803Asn) rs774594552 0.00001
NM_006393.3(NEBL):c.242G>C (p.Gly81Ala) rs1442801795 0.00001
NM_006393.3(NEBL):c.2507G>A (p.Gly836Glu) rs768915725 0.00001
NM_006393.3(NEBL):c.2513T>C (p.Ile838Thr) rs749452317 0.00001
NM_006393.3(NEBL):c.2588C>G (p.Ser863Cys) rs150152361 0.00001
NM_006393.3(NEBL):c.2602A>G (p.Met868Val) rs908360300 0.00001
NM_006393.3(NEBL):c.2611+6A>G rs762305537 0.00001
NM_006393.3(NEBL):c.2668G>A (p.Gly890Ser) rs756192561 0.00001
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu) rs876657926 0.00001
NM_006393.3(NEBL):c.2704G>A (p.Glu902Lys) rs761425280 0.00001
NM_006393.3(NEBL):c.2761G>C (p.Ala921Pro) rs1057518516 0.00001
NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys) rs1554769095 0.00001
NM_006393.3(NEBL):c.2959A>G (p.Ile987Val) rs746298728 0.00001
NM_006393.3(NEBL):c.2T>C (p.Met1Thr) rs972622200 0.00001
NM_006393.3(NEBL):c.3028A>G (p.Ile1010Val) rs1400947444 0.00001
NM_006393.3(NEBL):c.325A>G (p.Ile109Val) rs750081149 0.00001
NM_006393.3(NEBL):c.340G>T (p.Ala114Ser) rs996144249 0.00001
NM_006393.3(NEBL):c.463A>G (p.Asn155Asp) rs1344682606 0.00001
NM_006393.3(NEBL):c.640C>G (p.Pro214Ala) rs1392632186 0.00001
NM_006393.3(NEBL):c.684A>G (p.Gln228=) rs533225203 0.00001
NM_006393.3(NEBL):c.685-1G>C rs1843486814 0.00001
NM_006393.3(NEBL):c.686T>C (p.Ile229Thr) rs774523404 0.00001
NM_006393.3(NEBL):c.743C>T (p.Pro248Leu) rs1409547551 0.00001
NM_006393.3(NEBL):c.798T>C (p.Asn266=) rs770019579 0.00001
NM_006393.3(NEBL):c.799-4A>G rs773699320 0.00001
NM_006393.3(NEBL):c.834T>A (p.Asp278Glu) rs562939997 0.00001
NM_006393.3(NEBL):c.857T>A (p.Leu286Ter) rs752717041 0.00001
NM_006393.3(NEBL):c.901G>A (p.Gly301Ser) rs773469997 0.00001
NM_006393.3(NEBL):c.903+2dup rs1473850704 0.00001
NM_006393.3(NEBL):c.986G>T (p.Gly329Val) rs776185255 0.00001
NM_006393.3(NEBL):c.989A>G (p.Asn330Ser) rs876657927 0.00001
NM_006440.5(TXNRD2):c.1078G>A (p.Val360Met) rs747350610 0.00001
NM_006440.5(TXNRD2):c.1086+4C>T rs753380240 0.00001
NM_006440.5(TXNRD2):c.1087-2A>G rs1289412583 0.00001
NM_006440.5(TXNRD2):c.113G>A (p.Arg38Gln) rs777384922 0.00001
NM_006440.5(TXNRD2):c.1156T>C (p.Ser386Pro) rs960610186 0.00001
NM_006440.5(TXNRD2):c.1169T>G (p.Met390Arg) rs758236709 0.00001
NM_006440.5(TXNRD2):c.1214A>G (p.Tyr405Cys) rs934895346 0.00001
NM_006440.5(TXNRD2):c.1234G>A (p.Glu412Lys) rs781432469 0.00001
NM_006440.5(TXNRD2):c.1285G>A (p.Ala429Thr) rs767323099 0.00001
NM_006440.5(TXNRD2):c.1289A>C (p.His430Pro) rs376463546 0.00001
NM_006440.5(TXNRD2):c.1331C>G (p.Ser444Cys) rs749643976 0.00001
NM_006440.5(TXNRD2):c.1412G>A (p.Gly471Asp) rs754916024 0.00001
NM_006440.5(TXNRD2):c.1414G>A (p.Glu472Lys) rs766076027 0.00001
NM_006440.5(TXNRD2):c.1417G>A (p.Val473Ile) rs760570314 0.00001
NM_006440.5(TXNRD2):c.1460A>G (p.Tyr487Cys) rs367711380 0.00001
NM_006440.5(TXNRD2):c.1465C>T (p.Gln489Ter) rs759650391 0.00001
NM_006440.5(TXNRD2):c.1480G>A (p.Val494Met) rs762203465 0.00001
NM_006440.5(TXNRD2):c.172+3A>G rs923193498 0.00001
NM_006440.5(TXNRD2):c.172G>A (p.Ala58Thr) rs764378793 0.00001
NM_006440.5(TXNRD2):c.224C>T (p.Pro75Leu) rs888739263 0.00001
NM_006440.5(TXNRD2):c.238T>C (p.Trp80Arg) rs762714876 0.00001
NM_006440.5(TXNRD2):c.338A>G (p.Tyr113Cys) rs905391308 0.00001
NM_006440.5(TXNRD2):c.380A>G (p.Lys127Arg) rs753524446 0.00001
NM_006440.5(TXNRD2):c.395T>C (p.Val132Ala) rs1449070418 0.00001
NM_006440.5(TXNRD2):c.430C>T (p.Arg144Cys) rs749157073 0.00001
NM_006440.5(TXNRD2):c.449G>A (p.Arg150Lys) rs755356370 0.00001
NM_006440.5(TXNRD2):c.450-1G>A rs755703700 0.00001
NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp) rs777650793 0.00001
NM_006440.5(TXNRD2):c.497C>T (p.Thr166Met) rs553337931 0.00001
NM_006440.5(TXNRD2):c.508G>A (p.Val170Ile) rs574389555 0.00001
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val) rs373970291 0.00001
NM_006440.5(TXNRD2):c.575C>T (p.Pro192Leu) rs747572047 0.00001
NM_006440.5(TXNRD2):c.587C>T (p.Thr196Met) rs531899091 0.00001
NM_006440.5(TXNRD2):c.589C>G (p.His197Asp) rs762695606 0.00001
NM_006440.5(TXNRD2):c.591C>T (p.His197=) rs543644944 0.00001
NM_006440.5(TXNRD2):c.662+1G>A rs1317400468 0.00001
NM_006440.5(TXNRD2):c.715G>A (p.Gly239Arg) rs978493213 0.00001
NM_006440.5(TXNRD2):c.720T>G (p.Ile240Met) rs1246351128 0.00001
NM_006440.5(TXNRD2):c.746G>A (p.Arg249His) rs760799626 0.00001
NM_006440.5(TXNRD2):c.775C>A (p.Gln259Lys) rs1939470316 0.00001
NM_006440.5(TXNRD2):c.845C>T (p.Ser282Leu) rs368200536 0.00001
NM_006440.5(TXNRD2):c.860T>G (p.Leu287Arg) rs989125451 0.00001
NM_006440.5(TXNRD2):c.88G>T (p.Ala30Ser) rs1315091228 0.00001
NM_006440.5(TXNRD2):c.896G>A (p.Ser299Asn) rs779054925 0.00001
NM_006440.5(TXNRD2):c.904G>A (p.Gly302Ser) rs781228620 0.00001
NM_006440.5(TXNRD2):c.905G>A (p.Gly302Asp) rs757519340 0.00001
NM_006440.5(TXNRD2):c.949+3A>G rs770435568 0.00001
NM_006440.5(TXNRD2):c.965C>A (p.Thr322Asn) rs752178604 0.00001
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) rs367792378 0.00001
NM_014000.3(VCL):c.1961A>C (p.Asn654Thr) rs1591709946 0.00001
NM_014391.3(ANKRD1):c.3G>C (p.Met1Ile) rs188706671 0.00001
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_014391.3(ANKRD1):c.943C>T (p.Arg315Cys) rs775584071 0.00001
NM_014476.6(PDLIM3):c.743G>A (p.Arg248His) rs377158204 0.00001
NM_015141.4(GPD1L):c.692G>A (p.Arg231His) rs869025436 0.00001
NM_020297.4(ABCC9):c.1985T>C (p.Leu662Pro) rs869025346 0.00001
NM_020297.4(ABCC9):c.2950C>T (p.Arg984Cys) rs78979794 0.00001
NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala) rs397517190 0.00001
NM_020433.5(JPH2):c.278G>A (p.Arg93His) rs1131692244 0.00001
NM_022114.4(PRDM16):c.2362A>T (p.Met788Leu) rs768208960 0.00001
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu) rs769969149 0.00001
NM_032578.4(MYPN):c.308A>T (p.Asp103Val) rs758026056 0.00001
NM_130797.4(DPP6):c.2077C>T (p.Arg693Trp) rs869025385 0.00001
NM_133379.5(TTN):c.16529del (p.Val5510fs) rs774991940 0.00001
NM_144573.4(NEXN):c.1619T>C (p.Met540Thr) rs531641059 0.00001
NM_145046.5(CALR3):c.67T>A (p.Phe23Ile) rs368506422 0.00001
NM_170707.4(LMNA):c.1016C>A (p.Ala339Glu) rs756538414 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile) rs587777892 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1163G>A (p.Arg388His) rs267607576 0.00001
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu) rs267607561 0.00001
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172 0.00001
NM_170707.4(LMNA):c.11C>T (p.Pro4Leu) rs267607620 0.00001
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 0.00001
NM_170707.4(LMNA):c.1234G>C (p.Gly412Arg) rs966050612 0.00001
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro) rs267607564 0.00001
NM_170707.4(LMNA):c.1280G>A (p.Arg427His) rs747139279 0.00001
NM_170707.4(LMNA):c.1284C>G (p.Ser428Arg) rs368831495 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala) rs876657849 0.00001
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys) rs62636506 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys) rs397517892 0.00001
NM_170707.4(LMNA):c.1364G>A (p.Arg455His) rs267607597 0.00001
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr) rs267607642 0.00001
NM_170707.4(LMNA):c.1480G>T (p.Val494Leu) rs760277884 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) rs57629361 0.00001
NM_170707.4(LMNA):c.1600A>T (p.Thr534Ser) rs1311820114 0.00001
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser) rs144740174 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1660G>A (p.Glu554Lys) rs71630616 0.00001
NM_170707.4(LMNA):c.1698+1G>A rs1553266337 0.00001
NM_170707.4(LMNA):c.1729G>A (p.Ala577Thr) rs1439261714 0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985 0.00001
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys) rs578193315 0.00001
NM_170707.4(LMNA):c.1765G>A (p.Gly589Arg) rs372201662 0.00001
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn) rs769561386 0.00001
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) rs397517898 0.00001
NM_170707.4(LMNA):c.1871G>A (p.Arg624His) rs13768 0.00001
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser) rs951584348 0.00001
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln) rs768986279 0.00001
NM_170707.4(LMNA):c.23G>A (p.Arg8His) rs1329278578 0.00001
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly) rs1441670218 0.00001
NM_170707.4(LMNA):c.328C>A (p.Arg110Ser) rs1064797121 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.439G>A (p.Ala147Thr) rs139875047 0.00001
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027 0.00001
NM_170707.4(LMNA):c.480C>T (p.Gly160=) rs758848135 0.00001
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp) rs370200334 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.598A>G (p.Met200Val) rs777419380 0.00001
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys) rs987157491 0.00001
NM_170707.4(LMNA):c.659G>A (p.Arg220His) rs780066296 0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu) rs1016767319 0.00001
NM_170707.4(LMNA):c.704G>A (p.Arg235His) rs759829161 0.00001
NM_170707.4(LMNA):c.718C>T (p.Arg240Trp) rs775964460 0.00001
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile) rs1195524446 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.835G>A (p.Glu279Lys) rs1651446094 0.00001
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr) rs267607574 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.954G>A (p.Ala318=) rs397517914 0.00001
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp) rs879253898 0.00001
NM_170707.4(LMNA):c.997A>G (p.Thr333Ala) rs1308777587 0.00001
NM_170707.4(LMNA):c.998C>T (p.Thr333Ile) rs763069566 0.00001
NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr) rs1336353571 0.00001
NC_000002.11:g.(?_105977730)_(106002983_?)dup
NC_000010.10:g.(?_21074676)_(21076257_?)dup
NC_000010.10:g.(?_21074676)_(21186134_?)dup
NC_000010.10:g.(?_21098715)_(21098847_?)del
NC_000010.10:g.(?_21120105)_(21120532_?)del
NC_000010.10:g.(?_21185867)_(21186134_?)del
NC_000010.11:g.(?_20828510)_(20828654_?)del
NC_000010.11:g.(?_20828520)_(20828644_?)del
NC_000010.11:g.(?_20840719)_(20840869_?)del
NC_000010.11:g.(?_20840729)_(20840859_?)del
NC_000022.10:g.(?_19743473)_(19929346_?)dup
NC_000022.10:g.(?_19747167)_(20052185_?)dup
NC_000022.10:g.(?_19862041)_(19930515_?)dup
NC_000022.10:g.(?_19864618)_(19929336_?)dup
NC_000022.10:g.(?_19864628)_(19883124_?)del
NC_000022.10:g.(?_19882910)_(19886611_?)del
NC_000022.10:g.(?_19885542)_(19886611_?)del
NC_000022.10:g.(?_19903225)_(19906419_?)del
NC_000022.10:g.(?_19918553)_(19969614_?)del
NC_000022.10:g.(?_19929214)_(19929336_?)dup
NC_000022.11:g.(?_19877095)_(19941813_?)del
NC_000022.11:g.(?_19911357)_(19911467_?)del
NC_000022.11:g.(?_19911367)_(19911457_?)del
NC_000022.11:g.(?_19931010)_(19941823_?)del
NM_000088.4(COL1A1):c.4339G>T (p.Val1447Phe)
NM_000116.5(TAFAZZIN):c.*165T>A rs2068620449
NM_000116.5(TAFAZZIN):c.*387C>T rs1057515819
NM_000116.5(TAFAZZIN):c.*648A>C rs1413243483
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) rs2068313278
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.647-6C>T rs901353067
NM_000117.3(EMD):c.23C>G (p.Ser8Trp) rs869025400
NM_000232.5(SGCB):c.12GGC[3] (p.Ala9del) rs768838951
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) rs730880553
NM_000256.3(MYBPC3):c.742G>T (p.Asp248Tyr)
NM_000256.3(MYBPC3):c.93C>A (p.Ala31=)
NM_000257.4(MYH7):c.1128C>A (p.Asp376Glu) rs2231126
NM_000257.4(MYH7):c.1565A>T (p.Asp522Val) rs1595086146
NM_000257.4(MYH7):c.1997A>G (p.His666Arg) rs769919688
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro) rs730880763
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.3634C>T (p.Arg1212Trp) rs1555337102
NM_000257.4(MYH7):c.3854G>A (p.Gly1285Asp)
NM_000257.4(MYH7):c.3929A>C (p.Gln1310Pro) rs869025481
NM_000257.4(MYH7):c.3973-2A>T rs397516197
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys) rs730880800
NM_000257.4(MYH7):c.4501G>T (p.Glu1501Ter) rs1595074652
NM_000257.4(MYH7):c.4510A>T (p.Asn1504Tyr) rs869025482
NM_000257.4(MYH7):c.475G>C (p.Asp159His) rs730880155
NM_000257.4(MYH7):c.4808C>T (p.Ala1603Val) rs1892198053
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His) rs370328209
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5413C>A (p.Leu1805Ile) rs1892134324
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro) rs397516253
NM_000257.4(MYH7):c.5767A>G (p.Lys1923Glu) rs1595070373
NM_000257.4(MYH7):c.5769del (p.Ser1924fs) rs1892066954
NM_000335.5(SCN5A):c.1300T>A (p.Phe434Ile)
NM_000335.5(SCN5A):c.1671C>G (p.His557Gln) rs762858787
NM_000335.5(SCN5A):c.413T>C (p.Met138Thr) rs730880203
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.5(SCN5A):c.589G>T (p.Asp197Tyr) rs1553605667
NM_000337.6(SGCD):c.538A>T (p.Thr180Ser) rs1187720404
NM_000363.5(TNNI3):c.194C>T (p.Ala65Val) rs1057518784
NM_000363.5(TNNI3):c.496T>C (p.Ser166Pro) rs1599909123
NM_000363.5(TNNI3):c.538G>A (p.Asp180Asn) rs1060503103
NM_000426.4(LAMA2):c.4607C>T (p.Pro1536Leu) rs1776956586
NM_000426.4(LAMA2):c.7040G>T (p.Gly2347Val) rs529981007
NM_000432.4(MYL2):c.262G>A (p.Glu88Lys) rs869025484
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr) rs727504559
NM_001018005.2(TPM1):c.340G>C (p.Glu114Gln) rs1596361271
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001018005.2(TPM1):c.88A>G (p.Lys30Glu)
NM_001018005.2(TPM1):c.98A>C (p.Glu33Ala) rs886039444
NM_001018116.2(CAVIN4):c.721CTGAGACAGTCAGGGGAGAGG[1] (p.234LRQSGER[2]) rs746462546
NM_001035.3(RYR2):c.10471C>G (p.Leu3491Val) rs747700917
NM_001035.3(RYR2):c.2026G>A (p.Glu676Lys) rs1572596015
NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys) rs759424061
NM_001035.3(RYR2):c.6517G>A (p.Glu2173Lys)
NM_001077653.2(TBX20):c.1003G>A (p.Gly335Arg)
NM_001077653.2(TBX20):c.208G>A (p.Gly70Ser) rs1584359977
NM_001079802.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001105206.3(LAMA4):c.2493G>A (p.Lys831=) rs869025450
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val) rs547323858
NM_001134363.3(RBM20):c.122T>A (p.Met41Lys)
NM_001134363.3(RBM20):c.150_153del (p.Pro52fs) rs1861841498
NM_001134363.3(RBM20):c.154C>A (p.Pro52Thr) rs2134793204
NM_001134363.3(RBM20):c.2004C>A (p.Asp668Glu) rs749563704
NM_001134363.3(RBM20):c.2205G>A (p.Glu735=) rs1844785808
NM_001134363.3(RBM20):c.2893G>A (p.Gly965Arg) rs2135121307
NM_001134363.3(RBM20):c.298C>T (p.Leu100Phe) rs1590673852
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala) rs540014314
NM_001134363.3(RBM20):c.3496T>C (p.Cys1166Arg) rs869025506
NM_001134363.3(RBM20):c.3517G>A (p.Glu1173Lys) rs542297252
NM_001134363.3(RBM20):c.580A>G (p.Met194Val) rs2135042187
NM_001134363.3(RBM20):c.611C>T (p.Pro204Leu) rs869025503
NM_001144967.3(NEDD4L):c.1333C>T (p.Arg445Cys) rs1131690797
NM_001145809.2(MYH14):c.988_989delinsCT (p.Glu330Leu)
NM_001146156.2(GSK3B):c.910-2987C>T
NM_001148.6(ANK2):c.9871C>T (p.Pro3291Ser) rs869025361
NM_001267550.2(TTN):c.100603G>A (p.Glu33535Lys) rs1691401261
NM_001267550.2(TTN):c.1013G>A (p.Gly338Asp) rs2093698726
NM_001267550.2(TTN):c.102630del (p.Lys34210_Val34211insTer) rs869312101
NM_001267550.2(TTN):c.106374+1del rs763404256
NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter) rs374300381
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) rs778172350
NM_001267550.2(TTN):c.15776-1G>T rs869312094
NM_001267550.2(TTN):c.18265G>A (p.Asp6089Asn) rs560203827
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.26161G>A (p.Val8721Met) rs777730788
NM_001267550.2(TTN):c.2841G>T (p.Ser947=) rs774074192
NM_001267550.2(TTN):c.30803-2A>G rs869312089
NM_001267550.2(TTN):c.30994C>G (p.Pro10332Ala) rs757869762
NM_001267550.2(TTN):c.31594G>T (p.Val10532Phe) rs763955552
NM_001267550.2(TTN):c.32095+5G>A rs869312090
NM_001267550.2(TTN):c.32554+1G>C rs376018437
NM_001267550.2(TTN):c.33094+1G>A rs786205398
NM_001267550.2(TTN):c.34132del (p.Leu11378fs) rs869025551
NM_001267550.2(TTN):c.35225A>T (p.Lys11742Ile) rs2067070782
NM_001267550.2(TTN):c.39833AGA[1] (p.Lys13279del) rs765355244
NM_001267550.2(TTN):c.40520G>A (p.Arg13507His) rs771858747
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.4136T>C (p.Leu1379Ser)
NM_001267550.2(TTN):c.43631T>C (p.Met14544Thr) rs1576685386
NM_001267550.2(TTN):c.44191C>T (p.Leu14731Phe) rs771361227
NM_001267550.2(TTN):c.45391del (p.Ile15131fs) rs869312091
NM_001267550.2(TTN):c.46216G>A (p.Asp15406Asn)
NM_001267550.2(TTN):c.52128del (p.Phe17376fs) rs869312095
NM_001267550.2(TTN):c.5327C>A (p.Thr1776Asn)
NM_001267550.2(TTN):c.54316G>A (p.Asp18106Asn) rs2054384818
NM_001267550.2(TTN):c.55679G>A (p.Gly18560Asp) rs1334608070
NM_001267550.2(TTN):c.57847+5_57847+8del rs587782988
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val) rs397517637
NM_001267550.2(TTN):c.60367G>A (p.Glu20123Lys) rs1407608886
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.67159del (p.Ile22386_Ile22387insTer) rs869312092
NM_001267550.2(TTN):c.68225-1G>C rs1575854773
NM_001267550.2(TTN):c.7330+5G>C rs869025547
NM_001267550.2(TTN):c.73568del (p.Pro24523fs) rs1559415567
NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter) rs79926414
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs) rs869312100
NM_001267550.2(TTN):c.87157A>G (p.Thr29053Ala) rs1702238937
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.9432C>T (p.Gly3144=)
NM_001267550.2(TTN):c.94648G>A (p.Glu31550Lys)
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.96613G>A (p.Val32205Met) rs372312129
NM_001267550.2(TTN):c.96892C>T (p.Gln32298Ter) rs201108270
NM_001267550.2(TTN):c.9727C>T (p.Gln3243Ter) rs869312093
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met) rs755848026
NM_001267550.2(TTN):c.98054A>G (p.Glu32685Gly)
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) rs45525839
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly) rs727503512
NM_001276345.2(TNNT2):c.572T>G (p.Met191Arg) rs869025538
NM_001276345.2(TNNT2):c.651G>C (p.Lys217Asn) rs1571605501
NM_001276345.2(TNNT2):c.808G>A (p.Glu270Lys) rs1131691898
NM_001276345.2(TNNT2):c.817G>A (p.Val273Ile) rs1571590208
NM_001281740.3(FHOD3):c.2077C>T (p.Arg693Trp)
NM_001281740.3(FHOD3):c.4304G>A (p.Cys1435Tyr)
NM_001289808.2(CRYAB):c.22C>T (p.Pro8Ser) rs782654756
NM_001318895.3(FHL2):c.109G>A (p.Ala37Thr) rs74575749
NM_001318895.3(FHL2):c.10C>A (p.Arg4Ser)
NM_001318895.3(FHL2):c.11G>C (p.Arg4Pro) rs369109946
NM_001318895.3(FHL2):c.121G>T (p.Glu41Ter) rs552625336
NM_001318895.3(FHL2):c.125A>G (p.Glu42Gly) rs1045395933
NM_001318895.3(FHL2):c.128G>A (p.Cys43Tyr) rs745717988
NM_001318895.3(FHL2):c.139A>G (p.Ile47Val) rs1682314685
NM_001318895.3(FHL2):c.142G>A (p.Gly48Ser) rs777846521
NM_001318895.3(FHL2):c.143G>A (p.Gly48Asp) rs1196386664
NM_001318895.3(FHL2):c.154A>G (p.Lys52Glu)
NM_001318895.3(FHL2):c.157-3C>T rs112533691
NM_001318895.3(FHL2):c.162G>T (p.Leu54Phe)
NM_001318895.3(FHL2):c.183G>T (p.Trp61Cys) rs772913386
NM_001318895.3(FHL2):c.191C>G (p.Ala64Gly) rs533310258
NM_001318895.3(FHL2):c.191C>T (p.Ala64Val)
NM_001318895.3(FHL2):c.208C>G (p.Gln70Glu)
NM_001318895.3(FHL2):c.210G>T (p.Gln70His)
NM_001318895.3(FHL2):c.218A>G (p.Asn73Ser)
NM_001318895.3(FHL2):c.219C>G (p.Asn73Lys) rs1681256120
NM_001318895.3(FHL2):c.235C>G (p.Pro79Ala)
NM_001318895.3(FHL2):c.235_249del (p.Pro79_Lys83del)
NM_001318895.3(FHL2):c.254A>G (p.Asp85Gly)
NM_001318895.3(FHL2):c.269C>T (p.Thr90Ile)
NM_001318895.3(FHL2):c.278A>T (p.Tyr93Phe)
NM_001318895.3(FHL2):c.285C>G (p.Asn95Lys) rs374383740
NM_001318895.3(FHL2):c.293C>T (p.Ser98Leu) rs982423684
NM_001318895.3(FHL2):c.29G>A (p.Cys10Tyr) rs1682328689
NM_001318895.3(FHL2):c.2T>C (p.Met1Thr)
NM_001318895.3(FHL2):c.307G>A (p.Glu103Lys) rs1681246655
NM_001318895.3(FHL2):c.311G>A (p.Cys104Tyr)
NM_001318895.3(FHL2):c.331+6G>A
NM_001318895.3(FHL2):c.337dup (p.Arg113fs) rs2104507065
NM_001318895.3(FHL2):c.338G>A (p.Arg113His) rs752531815
NM_001318895.3(FHL2):c.338G>T (p.Arg113Leu)
NM_001318895.3(FHL2):c.388C>T (p.His130Tyr) rs983602593
NM_001318895.3(FHL2):c.391C>T (p.Arg131Cys) rs397517959
NM_001318895.3(FHL2):c.462T>G (p.Tyr154Ter)
NM_001318895.3(FHL2):c.475G>A (p.Ala159Thr) rs1680725217
NM_001318895.3(FHL2):c.497A>G (p.Lys166Arg) rs2104506293
NM_001318895.3(FHL2):c.4A>G (p.Thr2Ala)
NM_001318895.3(FHL2):c.501+5C>G
NM_001318895.3(FHL2):c.501+6T>C
NM_001318895.3(FHL2):c.502-1G>C rs2104487265
NM_001318895.3(FHL2):c.521T>A (p.Val174Asp) rs144442113
NM_001318895.3(FHL2):c.521T>C (p.Val174Ala) rs144442113
NM_001318895.3(FHL2):c.529C>T (p.Arg177Trp)
NM_001318895.3(FHL2):c.533A>C (p.Glu178Ala) rs1009986435
NM_001318895.3(FHL2):c.533del (p.Glu178fs) rs1680417431
NM_001318895.3(FHL2):c.550G>A (p.Glu184Lys) rs1573274516
NM_001318895.3(FHL2):c.559G>A (p.Val187Met) rs570903247
NM_001318895.3(FHL2):c.559G>T (p.Val187Leu) rs570903247
NM_001318895.3(FHL2):c.566_593del (p.Thr189fs)
NM_001318895.3(FHL2):c.568G>A (p.Ala190Thr) rs1279971079
NM_001318895.3(FHL2):c.56A>G (p.Tyr19Cys)
NM_001318895.3(FHL2):c.56A>T (p.Tyr19Phe)
NM_001318895.3(FHL2):c.574A>G (p.Arg192Gly)
NM_001318895.3(FHL2):c.596G>A (p.Arg199His)
NM_001318895.3(FHL2):c.610G>A (p.Asp204Asn) rs906250700
NM_001318895.3(FHL2):c.62T>A (p.Leu21Gln) rs755805016
NM_001318895.3(FHL2):c.64C>T (p.Arg22Trp)
NM_001318895.3(FHL2):c.655A>C (p.Lys219Gln)
NM_001318895.3(FHL2):c.65G>A (p.Arg22Gln)
NM_001318895.3(FHL2):c.678C>A (p.Asn226Lys) rs137869171
NM_001318895.3(FHL2):c.687C>T (p.Ser229=)
NM_001318895.3(FHL2):c.689-2A>G rs1231396526
NM_001318895.3(FHL2):c.698_699delinsAA (p.Gly233Glu)
NM_001318895.3(FHL2):c.721G>A (p.Glu241Lys) rs1680249986
NM_001318895.3(FHL2):c.729G>C (p.Gln243His)
NM_001318895.3(FHL2):c.731G>A (p.Trp244Ter) rs2104477866
NM_001318895.3(FHL2):c.738C>G (p.Asn246Lys)
NM_001318895.3(FHL2):c.73dup (p.Ser25fs) rs1682322677
NM_001318895.3(FHL2):c.742T>C (p.Cys248Arg) rs2104477768
NM_001318895.3(FHL2):c.74G>A (p.Ser25Asn)
NM_001318895.3(FHL2):c.752G>C (p.Cys251Ser)
NM_001318895.3(FHL2):c.756G>T (p.Lys252Asn)
NM_001318895.3(FHL2):c.760T>C (p.Cys254Arg)
NM_001318895.3(FHL2):c.794C>G (p.Thr265Arg)
NM_001318895.3(FHL2):c.805G>A (p.Asp269Asn)
NM_001318895.3(FHL2):c.81C>A (p.Tyr27Ter) rs727503060
NM_001318895.3(FHL2):c.823T>G (p.Cys275Gly) rs730880110
NM_001318895.3(FHL2):c.82T>C (p.Cys28Arg)
NM_001318895.3(FHL2):c.86T>C (p.Val29Ala)
NM_001330.5(CTF1):c.465dup (p.Ala156fs) rs1218236539
NM_001330239.4(TJP1):c.3754G>A (p.Glu1252Lys) rs539329069
NM_001458.5(FLNC):c.233G>A (p.Ser78Asn) rs2128932201
NM_001458.5(FLNC):c.290T>G (p.Leu97Arg) rs1585147935
NM_001458.5(FLNC):c.2917G>A (p.Gly973Ser) rs2128936113
NM_001458.5(FLNC):c.3193-2_3201del
NM_001458.5(FLNC):c.3275_3278delinsAAGA (p.Thr1092_Gly1093delinsLysAsp) rs1585159928
NM_001458.5(FLNC):c.4192A>G (p.Lys1398Glu) rs1585162066
NM_001458.5(FLNC):c.4566G>T (p.Gln1522His) rs559667295
NM_001458.5(FLNC):c.5170C>T (p.His1724Tyr) rs2128937841
NM_001458.5(FLNC):c.5194G>A (p.Val1732Met) rs374848954
NM_001458.5(FLNC):c.5298G>A (p.Trp1766Ter)
NM_001792.5(CDH2):c.1762A>G (p.Thr588Ala)
NM_001927.4(DES):c.1234G>A (p.Glu412Lys) rs869025380
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg) rs778473524
NM_002230.4(JUP):c.947T>G (p.Val316Gly) rs1915485566
NM_002230.4(JUP):c.986G>T (p.Trp329Leu) rs1915476980
NM_002471.4(MYH6):c.1334A>G (p.Asn445Ser)
NM_002471.4(MYH6):c.2538G>C (p.Glu846Asp) rs730880150
NM_002471.4(MYH6):c.4231G>A (p.Ala1411Thr)
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn) rs878854502
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002880.4(RAF1):c.1220T>A (p.Leu407His) rs869025502
NM_003280.3(TNNC1):c.25G>A (p.Val9Ile) rs1578264552
NM_003280.3(TNNC1):c.469A>T (p.Met157Leu) rs730880230
NM_003373.4(VCL):c.670dup (p.Glu224fs) rs876657674
NM_003443.3(ZBTB17):c.709CAAGAGGAG[3] (p.237QEE[3]) rs573935183
NM_003476.5(CSRP3):c.49del (p.Val17fs) rs869025378
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
NM_004006.3(DMD):c.6118-3C>A rs730880074
NM_004100.4(EYA4):c.724_(804_?)del
NM_004281.4(BAG3):c.653G>T (p.Arg218Leu)
NM_004387.4(NKX2-5):c.627GCC[4] (p.Pro214del) rs746833511
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu) rs730880079
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) rs869025391
NM_004415.4(DSP):c.3346T>C (p.Tyr1116His) rs1581815394
NM_004415.4(DSP):c.55C>T (p.Arg19Cys) rs777340009
NM_004415.4(DSP):c.6185A>G (p.His2062Arg) rs730880086
NM_004415.4(DSP):c.6305G>C (p.Gly2102Ala) rs572843477
NM_004415.4(DSP):c.7308T>A (p.Asp2436Glu) rs1581823824
NM_004588.5(SCN2B):c.332C>T (p.Ser111Leu) rs868793059
NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe) rs730880038
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met) rs371940910
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) rs80338938
NM_005633.4(SOS1):c.2230A>G (p.Arg744Gly) rs1669494952
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp) rs752395541
NM_005633.4(SOS1):c.3839AAG[3] (p.Glu1281dup) rs1175436231
NM_006393.3(NEBL):c.1004G>T (p.Ser335Ile) rs1842654577
NM_006393.3(NEBL):c.1008+1G>C
NM_006393.3(NEBL):c.1008+5A>T
NM_006393.3(NEBL):c.1009-6A>G
NM_006393.3(NEBL):c.1009-9C>A rs761381479
NM_006393.3(NEBL):c.1009G>T (p.Val337Leu)
NM_006393.3(NEBL):c.1020del (p.Glu341fs) rs2131052910
NM_006393.3(NEBL):c.1021GAA[1] (p.Glu342del)
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys) rs876657925
NM_006393.3(NEBL):c.1037del (p.Asn346fs) rs767349615
NM_006393.3(NEBL):c.1039A>G (p.Lys347Glu) rs1842398385
NM_006393.3(NEBL):c.1062T>G (p.Phe354Leu) rs996916612
NM_006393.3(NEBL):c.1076C>T (p.Ser359Leu) rs1842393771
NM_006393.3(NEBL):c.1088C>T (p.Ser363Leu) rs747086170
NM_006393.3(NEBL):c.1104G>C (p.Lys368Asn) rs2131051844
NM_006393.3(NEBL):c.1112G>A (p.Ser371Asn)
NM_006393.3(NEBL):c.1123del (p.Tyr375fs)
NM_006393.3(NEBL):c.1129G>T (p.Glu377Ter)
NM_006393.3(NEBL):c.113G>A (p.Ser38Asn)
NM_006393.3(NEBL):c.116T>C (p.Met39Thr)
NM_006393.3(NEBL):c.1189T>G (p.Phe397Val)
NM_006393.3(NEBL):c.1195C>T (p.His399Tyr)
NM_006393.3(NEBL):c.1197T>G (p.His399Gln) rs903764018
NM_006393.3(NEBL):c.1212C>T (p.Thr404=)
NM_006393.3(NEBL):c.1227+1G>A rs1841789797
NM_006393.3(NEBL):c.1227+5G>C rs370026081
NM_006393.3(NEBL):c.1228-3T>C rs1588750815
NM_006393.3(NEBL):c.1228-4A>T
NM_006393.3(NEBL):c.1234T>C (p.Tyr412His)
NM_006393.3(NEBL):c.1241A>C (p.Lys414Thr)
NM_006393.3(NEBL):c.1243G>A (p.Asp415Asn)
NM_006393.3(NEBL):c.1244A>C (p.Asp415Ala)
NM_006393.3(NEBL):c.1246T>A (p.Leu416Met)
NM_006393.3(NEBL):c.1259T>C (p.Ile420Thr) rs1841346894
NM_006393.3(NEBL):c.1269A>T (p.Lys423Asn) rs138932199
NM_006393.3(NEBL):c.1274T>C (p.Met425Thr)
NM_006393.3(NEBL):c.1300A>C (p.Ile434Leu)
NM_006393.3(NEBL):c.1315C>T (p.Arg439Ter)
NM_006393.3(NEBL):c.1318G>A (p.Ala440Thr)
NM_006393.3(NEBL):c.1322C>G (p.Ser441Cys) rs1841337096
NM_006393.3(NEBL):c.1338+2377C>T
NM_006393.3(NEBL):c.1339-3C>G
NM_006393.3(NEBL):c.135C>T (p.Cys45=) rs757156256
NM_006393.3(NEBL):c.136A>G (p.Thr46Ala) rs751607557
NM_006393.3(NEBL):c.1378A>G (p.Lys460Glu)
NM_006393.3(NEBL):c.1391_1392delinsGG (p.Ala464Gly) rs2130934659
NM_006393.3(NEBL):c.1401C>G (p.Asp467Glu) rs769479569
NM_006393.3(NEBL):c.1414C>T (p.Gln472Ter)
NM_006393.3(NEBL):c.1424A>G (p.Lys475Arg)
NM_006393.3(NEBL):c.1429G>A (p.Ala477Thr)
NM_006393.3(NEBL):c.1431_1437del (p.Ala477_Ala478insTer)
NM_006393.3(NEBL):c.1439T>C (p.Ile480Thr)
NM_006393.3(NEBL):c.1449+12G>A
NM_006393.3(NEBL):c.1457A>G (p.Tyr486Cys)
NM_006393.3(NEBL):c.1466A>T (p.Asp489Val)
NM_006393.3(NEBL):c.1469T>C (p.Leu490Pro) rs1840423988
NM_006393.3(NEBL):c.1473G>T (p.Glu491Asp)
NM_006393.3(NEBL):c.1478A>G (p.Glu493Gly)
NM_006393.3(NEBL):c.1508_1509del (p.Thr503fs)
NM_006393.3(NEBL):c.1510_1513del (p.Asp504fs) rs745728544
NM_006393.3(NEBL):c.151G>A (p.Asp51Asn) rs1269179367
NM_006393.3(NEBL):c.153+1G>A
NM_006393.3(NEBL):c.1549A>T (p.Met517Leu) rs1430856878
NM_006393.3(NEBL):c.1560+2T>C
NM_006393.3(NEBL):c.1563del (p.Lys521fs) rs1840390408
NM_006393.3(NEBL):c.1572del (p.Lys525fs) rs879600856
NM_006393.3(NEBL):c.1584A>C (p.Glu528Asp) rs1840387740
NM_006393.3(NEBL):c.1597G>A (p.Gly533Arg) rs541364544
NM_006393.3(NEBL):c.1604G>A (p.Gly535Glu)
NM_006393.3(NEBL):c.1616G>A (p.Ser539Asn)
NM_006393.3(NEBL):c.1618A>G (p.Met540Val)
NM_006393.3(NEBL):c.161A>G (p.Tyr54Cys)
NM_006393.3(NEBL):c.161A>T (p.Tyr54Phe)
NM_006393.3(NEBL):c.1621G>T (p.Asp541Tyr)
NM_006393.3(NEBL):c.1636C>T (p.Leu546Phe)
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln) rs747238199
NM_006393.3(NEBL):c.1643C>G (p.Ala548Gly) rs2130907056
NM_006393.3(NEBL):c.1671+4G>A rs528164655
NM_006393.3(NEBL):c.1671+5G>C
NM_006393.3(NEBL):c.1672-3T>C rs1554779376
NM_006393.3(NEBL):c.1672-5T>G
NM_006393.3(NEBL):c.1672A>C (p.Arg558=) rs944343501
NM_006393.3(NEBL):c.1677G>T (p.Lys559Asn) rs1013844942
NM_006393.3(NEBL):c.1691C>T (p.Ala564Val) rs1840109648
NM_006393.3(NEBL):c.1696A>C (p.Lys566Gln) rs1060503680
NM_006393.3(NEBL):c.1722A>G (p.Ile574Met)
NM_006393.3(NEBL):c.1723G>A (p.Ala575Thr)
NM_006393.3(NEBL):c.1732C>T (p.Pro578Ser)
NM_006393.3(NEBL):c.173_174del (p.Glu57_Phe58insTer) rs1846880633
NM_006393.3(NEBL):c.1756A>G (p.Thr586Ala)
NM_006393.3(NEBL):c.1758_1762del (p.Gln587fs) rs758450195
NM_006393.3(NEBL):c.1775C>T (p.Ala592Val) rs146275785
NM_006393.3(NEBL):c.1783T>G (p.Tyr595Asp) rs2130874323
NM_006393.3(NEBL):c.1810G>A (p.Ala604Thr)
NM_006393.3(NEBL):c.1837C>G (p.Arg613Gly)
NM_006393.3(NEBL):c.1859A>G (p.Asn620Ser)
NM_006393.3(NEBL):c.1869+5G>A rs1346776842
NM_006393.3(NEBL):c.1869A>G (p.Ser623=)
NM_006393.3(NEBL):c.1870-1G>T rs112010030
NM_006393.3(NEBL):c.1895A>G (p.His632Arg)
NM_006393.3(NEBL):c.1906A>G (p.Ile636Val) rs1564356559
NM_006393.3(NEBL):c.1916C>T (p.Pro639Leu)
NM_006393.3(NEBL):c.1928del (p.Lys643fs) rs754334553
NM_006393.3(NEBL):c.1933G>A (p.Val645Ile) rs1169892636
NM_006393.3(NEBL):c.1940A>G (p.Glu647Gly)
NM_006393.3(NEBL):c.1943dup (p.Asn648fs)
NM_006393.3(NEBL):c.1948A>G (p.Lys650Glu)
NM_006393.3(NEBL):c.1952A>C (p.Asn651Thr)
NM_006393.3(NEBL):c.1987A>C (p.Lys663Gln) rs751064460
NM_006393.3(NEBL):c.1990G>T (p.Ala664Ser) rs2130827997
NM_006393.3(NEBL):c.2015A>T (p.Glu672Val)
NM_006393.3(NEBL):c.2020G>A (p.Glu674Lys)
NM_006393.3(NEBL):c.2024G>A (p.Arg675Lys) rs1839060822
NM_006393.3(NEBL):c.2032C>T (p.Arg678Ter)
NM_006393.3(NEBL):c.2041_2043dup (p.Glu681_Gln682insGlu)
NM_006393.3(NEBL):c.2050A>C (p.Ser684Arg)
NM_006393.3(NEBL):c.2051G>A (p.Ser684Asn)
NM_006393.3(NEBL):c.2063A>T (p.Tyr688Phe)
NM_006393.3(NEBL):c.2066A>G (p.Lys689Arg) rs1838865198
NM_006393.3(NEBL):c.2110C>G (p.Leu704Val) rs751282061
NM_006393.3(NEBL):c.2122A>C (p.Lys708Gln)
NM_006393.3(NEBL):c.2147A>G (p.Asn716Ser)
NM_006393.3(NEBL):c.2148+2T>A
NM_006393.3(NEBL):c.2149-2A>C rs367588562
NM_006393.3(NEBL):c.2155T>G (p.Tyr719Asp) rs1427758049
NM_006393.3(NEBL):c.2164C>A (p.Gln722Lys) rs1459943747
NM_006393.3(NEBL):c.2177C>A (p.Ala726Asp)
NM_006393.3(NEBL):c.2183C>T (p.Thr728Ile)
NM_006393.3(NEBL):c.2191G>A (p.Val731Ile)
NM_006393.3(NEBL):c.2192dup (p.Thr732fs)
NM_006393.3(NEBL):c.2230A>C (p.Asn744His) rs2130804609
NM_006393.3(NEBL):c.2237G>C (p.Ser746Thr)
NM_006393.3(NEBL):c.2242-1G>A
NM_006393.3(NEBL):c.2252C>T (p.Thr751Ile)
NM_006393.3(NEBL):c.2262_2275del (p.His754fs)
NM_006393.3(NEBL):c.2266C>T (p.Gln756Ter)
NM_006393.3(NEBL):c.2275G>C (p.Gly759Arg)
NM_006393.3(NEBL):c.2287C>G (p.Leu763Val) rs768389033
NM_006393.3(NEBL):c.2313A>T (p.Arg771Ser)
NM_006393.3(NEBL):c.2315A>T (p.His772Leu)
NM_006393.3(NEBL):c.2332A>T (p.Asn778Tyr)
NM_006393.3(NEBL):c.2335C>A (p.His779Asn) rs1438423663
NM_006393.3(NEBL):c.2346+5G>A
NM_006393.3(NEBL):c.2347G>A (p.Val783Ile)
NM_006393.3(NEBL):c.2363A>G (p.Asp788Gly)
NM_006393.3(NEBL):c.2365T>A (p.Phe789Ile) rs1564345984
NM_006393.3(NEBL):c.2391T>G (p.Phe797Leu) rs1060503681
NM_006393.3(NEBL):c.241G>T (p.Gly81Cys) rs369862013
NM_006393.3(NEBL):c.2428A>G (p.Arg810Gly)
NM_006393.3(NEBL):c.242G>A (p.Gly81Asp) rs1442801795
NM_006393.3(NEBL):c.242del (p.Gly81fs)
NM_006393.3(NEBL):c.2446G>A (p.Val816Ile) rs2130787684
NM_006393.3(NEBL):c.2452G>A (p.Asp818Asn)
NM_006393.3(NEBL):c.2465A>T (p.Lys822Ile)
NM_006393.3(NEBL):c.2468G>A (p.Gly823Glu) rs2130787472
NM_006393.3(NEBL):c.2470G>C (p.Val824Leu)
NM_006393.3(NEBL):c.2480A>G (p.His827Arg) rs372763596
NM_006393.3(NEBL):c.2481C>G (p.His827Gln)
NM_006393.3(NEBL):c.2483T>A (p.Ile828Asn) rs2130787312
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser) rs727505285
NM_006393.3(NEBL):c.2501G>A (p.Arg834Lys)
NM_006393.3(NEBL):c.250A>T (p.Ile84Phe)
NM_006393.3(NEBL):c.2517T>G (p.Val839=)
NM_006393.3(NEBL):c.2519-1G>A
NM_006393.3(NEBL):c.2519-1G>T
NM_006393.3(NEBL):c.2519-2A>G
NM_006393.3(NEBL):c.2519-3A>G rs1396613955
NM_006393.3(NEBL):c.2534G>A (p.Arg845His) rs761052528
NM_006393.3(NEBL):c.2543C>T (p.Pro848Leu) rs1837961214
NM_006393.3(NEBL):c.258+3A>G
NM_006393.3(NEBL):c.259-2A>G
NM_006393.3(NEBL):c.259-7C>G rs201590910
NM_006393.3(NEBL):c.2599C>T (p.His867Tyr)
NM_006393.3(NEBL):c.259G>A (p.Ala87Thr) rs368856187
NM_006393.3(NEBL):c.2612-6A>G rs377317796
NM_006393.3(NEBL):c.2618C>T (p.Ala873Val)
NM_006393.3(NEBL):c.2645G>T (p.Arg882Leu) rs758877499
NM_006393.3(NEBL):c.2653T>C (p.Ser885Pro)
NM_006393.3(NEBL):c.2658C>G (p.Ser886Arg)
NM_006393.3(NEBL):c.2674G>T (p.Gly892Cys)
NM_006393.3(NEBL):c.2683GAC[1] (p.Asp896del) rs1837836867
NM_006393.3(NEBL):c.2686G>A (p.Asp896Asn)
NM_006393.3(NEBL):c.2686dup (p.Asp896fs) rs766320208
NM_006393.3(NEBL):c.2689A>G (p.Arg897Gly) rs2130760889
NM_006393.3(NEBL):c.2699_2700delinsAA (p.Ile900Lys)
NM_006393.3(NEBL):c.2725T>C (p.Cys909Arg)
NM_006393.3(NEBL):c.2726G>A (p.Cys909Tyr)
NM_006393.3(NEBL):c.2734G>A (p.Glu912Lys)
NM_006393.3(NEBL):c.2737G>A (p.Val913Ile) rs1564341986
NM_006393.3(NEBL):c.2740A>T (p.Thr914Ser) rs1369499702
NM_006393.3(NEBL):c.2747C>T (p.Pro916Leu) rs143149169
NM_006393.3(NEBL):c.275C>G (p.Thr92Ser)
NM_006393.3(NEBL):c.2771T>A (p.Leu924His)
NM_006393.3(NEBL):c.2776G>A (p.Gly926Arg)
NM_006393.3(NEBL):c.2777G>C (p.Gly926Ala)
NM_006393.3(NEBL):c.2778A>T (p.Gly926=) rs1835500948
NM_006393.3(NEBL):c.2813A>G (p.Tyr938Cys) rs1024719266
NM_006393.3(NEBL):c.2816T>A (p.Met939Lys)
NM_006393.3(NEBL):c.2830G>A (p.Val944Met)
NM_006393.3(NEBL):c.2833_2841del (p.Ser945_Met947del)
NM_006393.3(NEBL):c.2839A>C (p.Met947Leu)
NM_006393.3(NEBL):c.2849T>C (p.Met950Thr) rs1835493262
NM_006393.3(NEBL):c.284C>G (p.Ala95Gly) rs769868347
NM_006393.3(NEBL):c.2851C>T (p.Gln951Ter) rs2131619034
NM_006393.3(NEBL):c.2864dup (p.Asn955fs) rs2131618949
NM_006393.3(NEBL):c.2890G>A (p.Asp964Asn)
NM_006393.3(NEBL):c.2897G>T (p.Ser966Ile)
NM_006393.3(NEBL):c.28A>G (p.Lys10Glu)
NM_006393.3(NEBL):c.2905G>T (p.Asp969Tyr) rs1588586303
NM_006393.3(NEBL):c.2906A>G (p.Asp969Gly) rs2131613917
NM_006393.3(NEBL):c.2932G>A (p.Gly978Ser) rs1835362564
NM_006393.3(NEBL):c.2935G>A (p.Asp979Asn)
NM_006393.3(NEBL):c.2947A>G (p.Asn983Asp) rs1835360345
NM_006393.3(NEBL):c.2955G>T (p.Gln985His) rs201571938
NM_006393.3(NEBL):c.2965G>A (p.Asp989Asn)
NM_006393.3(NEBL):c.2966A>G (p.Asp989Gly)
NM_006393.3(NEBL):c.297T>G (p.Asn99Lys) rs1363794425
NM_006393.3(NEBL):c.3013C>T (p.Leu1005Phe)
NM_006393.3(NEBL):c.3031G>A (p.Glu1011Lys) rs375208825
NM_006393.3(NEBL):c.3043T>C (p.Ter1015Gln) rs763015983
NM_006393.3(NEBL):c.311G>T (p.Arg104Leu)
NM_006393.3(NEBL):c.344_346del (p.Gly115del) rs773042028
NM_006393.3(NEBL):c.359T>C (p.Leu120Pro)
NM_006393.3(NEBL):c.366T>A (p.Ser122Arg)
NM_006393.3(NEBL):c.369+1G>A
NM_006393.3(NEBL):c.369+4G>A
NM_006393.3(NEBL):c.370-2A>G
NM_006393.3(NEBL):c.373G>A (p.Ala125Thr)
NM_006393.3(NEBL):c.383A>G (p.Gln128Arg) rs139809958
NM_006393.3(NEBL):c.418G>C (p.Ala140Pro) rs2131316427
NM_006393.3(NEBL):c.419C>G (p.Ala140Gly)
NM_006393.3(NEBL):c.434C>T (p.Pro145Leu) rs1845953617
NM_006393.3(NEBL):c.439G>A (p.Glu147Lys)
NM_006393.3(NEBL):c.448C>T (p.His150Tyr)
NM_006393.3(NEBL):c.451G>A (p.Ala151Thr)
NM_006393.3(NEBL):c.454A>G (p.Met152Val)
NM_006393.3(NEBL):c.455T>C (p.Met152Thr)
NM_006393.3(NEBL):c.456G>A (p.Met152Ile) rs1238447316
NM_006393.3(NEBL):c.464A>G (p.Asn155Ser)
NM_006393.3(NEBL):c.479A>G (p.Asn160Ser)
NM_006393.3(NEBL):c.480T>G (p.Asn160Lys)
NM_006393.3(NEBL):c.481-14C>G
NM_006393.3(NEBL):c.496G>C (p.Asp166His) rs780036701
NM_006393.3(NEBL):c.498C>A (p.Asp166Glu) rs371105861
NM_006393.3(NEBL):c.502C>G (p.Gln168Glu)
NM_006393.3(NEBL):c.505_526dup (p.Glu176fs)
NM_006393.3(NEBL):c.509C>T (p.Thr170Ile) rs1564404256
NM_006393.3(NEBL):c.515C>T (p.Thr172Met) rs548438161
NM_006393.3(NEBL):c.53T>C (p.Ile18Thr)
NM_006393.3(NEBL):c.574A>G (p.Ile192Val) rs758465790
NM_006393.3(NEBL):c.58G>A (p.Glu20Lys) rs2131413901
NM_006393.3(NEBL):c.590A>G (p.Tyr197Cys)
NM_006393.3(NEBL):c.614A>G (p.Asn205Ser) rs794729077
NM_006393.3(NEBL):c.641C>T (p.Pro214Leu)
NM_006393.3(NEBL):c.647T>C (p.Phe216Ser)
NM_006393.3(NEBL):c.652C>T (p.His218Tyr)
NM_006393.3(NEBL):c.658G>A (p.Val220Met) rs571563897
NM_006393.3(NEBL):c.658G>T (p.Val220Leu) rs571563897
NM_006393.3(NEBL):c.65A>G (p.Glu22Gly)
NM_006393.3(NEBL):c.67_72del (p.Asn23_Glu24del) rs778962398
NM_006393.3(NEBL):c.687T>G (p.Ile229Met) rs768661641
NM_006393.3(NEBL):c.692A>T (p.Tyr231Phe) rs920640841
NM_006393.3(NEBL):c.700A>G (p.Lys234Glu) rs568662113
NM_006393.3(NEBL):c.709A>G (p.Asn237Asp) rs1588846853
NM_006393.3(NEBL):c.722A>T (p.Asp241Val)
NM_006393.3(NEBL):c.72AGA[1] (p.Glu25del) rs794729080
NM_006393.3(NEBL):c.732T>A (p.His244Gln) rs1843479030
NM_006393.3(NEBL):c.738C>G (p.Tyr246Ter) rs778455217
NM_006393.3(NEBL):c.755C>T (p.Ala252Val) rs2131146354
NM_006393.3(NEBL):c.765_766delinsAA (p.Gln256Lys) rs1843470481
NM_006393.3(NEBL):c.773A>G (p.Gln258Arg) rs924565857
NM_006393.3(NEBL):c.791C>T (p.Ala264Val) rs548922223
NM_006393.3(NEBL):c.801G>T (p.Val267=)
NM_006393.3(NEBL):c.814G>C (p.Asp272His)
NM_006393.3(NEBL):c.826A>G (p.Met276Val) rs1373986579
NM_006393.3(NEBL):c.828G>A (p.Met276Ile)
NM_006393.3(NEBL):c.838G>A (p.Val280Ile)
NM_006393.3(NEBL):c.853A>G (p.Asn285Asp) rs1843299381
NM_006393.3(NEBL):c.858G>C (p.Leu286Phe)
NM_006393.3(NEBL):c.858G>T (p.Leu286Phe) rs765274802
NM_006393.3(NEBL):c.858GTT[1] (p.Leu287del) rs757466908
NM_006393.3(NEBL):c.863T>C (p.Phe288Ser)
NM_006393.3(NEBL):c.903+1G>A rs775057540
NM_006393.3(NEBL):c.903+2del rs1588839902
NM_006393.3(NEBL):c.903+4dup rs1564391383
NM_006393.3(NEBL):c.905G>A (p.Arg302Gln)
NM_006393.3(NEBL):c.940A>G (p.Met314Val)
NM_006393.3(NEBL):c.942G>A (p.Met314Ile)
NM_006393.3(NEBL):c.959A>G (p.Asp320Gly)
NM_006393.3(NEBL):c.962C>T (p.Ala321Val) rs1842659148
NM_006393.3(NEBL):c.976C>T (p.His326Tyr) rs1232048555
NM_006393.3(NEBL):c.980A>G (p.His327Arg)
NM_006440.5(TXNRD2):c.1009G>A (p.Asp337Asn)
NM_006440.5(TXNRD2):c.1011C>A (p.Asp337Glu) rs1569073275
NM_006440.5(TXNRD2):c.1032C>A (p.Asp344Glu)
NM_006440.5(TXNRD2):c.103G>C (p.Ala35Pro)
NM_006440.5(TXNRD2):c.104-14A>T
NM_006440.5(TXNRD2):c.104-1G>A rs781473800
NM_006440.5(TXNRD2):c.1058A>C (p.His353Pro) rs1307604976
NM_006440.5(TXNRD2):c.1058A>G (p.His353Arg) rs1307604976
NM_006440.5(TXNRD2):c.1066G>A (p.Ala356Thr) rs576244023
NM_006440.5(TXNRD2):c.1070T>C (p.Ile357Thr)
NM_006440.5(TXNRD2):c.1078G>C (p.Val360Leu)
NM_006440.5(TXNRD2):c.1091G>T (p.Arg364Leu) rs199734322
NM_006440.5(TXNRD2):c.1106C>A (p.Pro369His) rs1489194482
NM_006440.5(TXNRD2):c.1117A>G (p.Met373Val) rs2145933186
NM_006440.5(TXNRD2):c.1118T>C (p.Met373Thr) rs1938732295
NM_006440.5(TXNRD2):c.1123G>C (p.Gly375Arg) rs757239766
NM_006440.5(TXNRD2):c.1124G>T (p.Gly375Val)
NM_006440.5(TXNRD2):c.1142G>A (p.Arg381Gln) rs774909194
NM_006440.5(TXNRD2):c.1150G>C (p.Gly384Arg) rs192869629
NM_006440.5(TXNRD2):c.1153G>A (p.Gly385Arg) rs528059873
NM_006440.5(TXNRD2):c.1154G>C (p.Gly385Ala) rs1938727490
NM_006440.5(TXNRD2):c.1178A>G (p.Asp393Gly) rs2145932871
NM_006440.5(TXNRD2):c.1180A>G (p.Asn394Asp)
NM_006440.5(TXNRD2):c.1182T>C (p.Asn394=) rs1938724361
NM_006440.5(TXNRD2):c.1183-10_1183-7del rs1569070709
NM_006440.5(TXNRD2):c.1183-4T>C
NM_006440.5(TXNRD2):c.11T>C (p.Met4Thr) rs1429174414
NM_006440.5(TXNRD2):c.1205C>T (p.Pro402Leu)
NM_006440.5(TXNRD2):c.1252C>T (p.Arg418Cys)
NM_006440.5(TXNRD2):c.1253G>A (p.Arg418His) rs1388670551
NM_006440.5(TXNRD2):c.1258G>A (p.Gly420Arg)
NM_006440.5(TXNRD2):c.1262A>G (p.Gln421Arg)
NM_006440.5(TXNRD2):c.1266G>C (p.Glu422Asp) rs1569070557
NM_006440.5(TXNRD2):c.1275+6G>A
NM_006440.5(TXNRD2):c.1276-1G>A rs2145927925
NM_006440.5(TXNRD2):c.1280A>G (p.Tyr427Cys) rs1938608628
NM_006440.5(TXNRD2):c.1301T>C (p.Leu434Pro) rs2145927851
NM_006440.5(TXNRD2):c.1310C>T (p.Thr437Met)
NM_006440.5(TXNRD2):c.1334A>G (p.Gln445Arg) rs1938606140
NM_006440.5(TXNRD2):c.136G>A (p.Gly46Ser)
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs) rs758790391
NM_006440.5(TXNRD2):c.1378G>A (p.Val460Met) rs770442788
NM_006440.5(TXNRD2):c.1407C>G (p.Asn469Lys) rs200063300
NM_006440.5(TXNRD2):c.1420A>G (p.Thr474Ala)
NM_006440.5(TXNRD2):c.1445+7C>A
NM_006440.5(TXNRD2):c.1445A>C (p.Lys482Thr) rs763072970
NM_006440.5(TXNRD2):c.1451G>A (p.Gly484Glu) rs1409074647
NM_006440.5(TXNRD2):c.1460A>C (p.Tyr487Ser)
NM_006440.5(TXNRD2):c.1471A>G (p.Met491Val)
NM_006440.5(TXNRD2):c.1478C>T (p.Thr493Ile)
NM_006440.5(TXNRD2):c.1484G>T (p.Gly495Val)
NM_006440.5(TXNRD2):c.1492C>T (p.Pro498Ser) rs1569068105
NM_006440.5(TXNRD2):c.1499_1500delinsAA (p.Cys500Ter)
NM_006440.5(TXNRD2):c.14C>G (p.Ala5Gly)
NM_006440.5(TXNRD2):c.14C>T (p.Ala5Val) rs775392322
NM_006440.5(TXNRD2):c.1514T>C (p.Val505Ala) rs759613137
NM_006440.5(TXNRD2):c.1522C>G (p.Arg508Gly) rs368176907
NM_006440.5(TXNRD2):c.1546G>C (p.Asp516His) rs1221993025
NM_006440.5(TXNRD2):c.1553C>T (p.Thr518Met)
NM_006440.5(TXNRD2):c.1575A>C (p.Ter525Tyr)
NM_006440.5(TXNRD2):c.177_178delinsTT (p.Gln60Ter) rs1940808459
NM_006440.5(TXNRD2):c.187A>G (p.Arg63Gly) rs2146049658
NM_006440.5(TXNRD2):c.1A>G (p.Met1Val)
NM_006440.5(TXNRD2):c.205G>T (p.Asp69Tyr) rs768403549
NM_006440.5(TXNRD2):c.20C>G (p.Ala7Gly)
NM_006440.5(TXNRD2):c.211G>A (p.Val71Met)
NM_006440.5(TXNRD2):c.230-2A>G
NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu) rs373979810
NM_006440.5(TXNRD2):c.247G>A (p.Gly83Ser)
NM_006440.5(TXNRD2):c.26G>C (p.Arg9Pro)
NM_006440.5(TXNRD2):c.284A>G (p.Lys95Arg)
NM_006440.5(TXNRD2):c.299C>A (p.Ala100Glu) rs767878935
NM_006440.5(TXNRD2):c.299C>T (p.Ala100Val)
NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala) rs1159919237
NM_006440.5(TXNRD2):c.313G>A (p.Gly105Ser) rs1429132177
NM_006440.5(TXNRD2):c.335A>G (p.Asn112Ser)
NM_006440.5(TXNRD2):c.335A>T (p.Asn112Ile) rs758941896
NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His) rs869025560
NM_006440.5(TXNRD2):c.364C>A (p.Pro122Thr)
NM_006440.5(TXNRD2):c.364C>T (p.Pro122Ser) rs1432720365
NM_006440.5(TXNRD2):c.365C>T (p.Pro122Leu)
NM_006440.5(TXNRD2):c.382A>T (p.Met128Leu) rs1940724639
NM_006440.5(TXNRD2):c.385G>A (p.Ala129Thr)
NM_006440.5(TXNRD2):c.392C>G (p.Ala131Gly) rs368359642
NM_006440.5(TXNRD2):c.392C>T (p.Ala131Val) rs368359642
NM_006440.5(TXNRD2):c.403del (p.His135fs) rs1940723314
NM_006440.5(TXNRD2):c.406G>A (p.Val136Met) rs749100112
NM_006440.5(TXNRD2):c.413C>T (p.Ser138Phe)
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu) rs2146120283
NM_006440.5(TXNRD2):c.428A>G (p.His143Arg)
NM_006440.5(TXNRD2):c.431G>A (p.Arg144His) rs748674090
NM_006440.5(TXNRD2):c.431G>C (p.Arg144Pro) rs748674090
NM_006440.5(TXNRD2):c.431G>T (p.Arg144Leu)
NM_006440.5(TXNRD2):c.43T>A (p.Phe15Ile)
NM_006440.5(TXNRD2):c.449+2T>G
NM_006440.5(TXNRD2):c.449+3A>G rs754205571
NM_006440.5(TXNRD2):c.450-2A>G
NM_006440.5(TXNRD2):c.462C>G (p.Tyr154Ter) rs182857388
NM_006440.5(TXNRD2):c.479G>A (p.Ser160Asn) rs1255947483
NM_006440.5(TXNRD2):c.51G>C (p.Trp17Cys) rs2146120227
NM_006440.5(TXNRD2):c.528+2T>C rs775856560
NM_006440.5(TXNRD2):c.529-3_529-2del
NM_006440.5(TXNRD2):c.52C>T (p.Arg18Trp) rs1060501404
NM_006440.5(TXNRD2):c.553A>G (p.Ile185Val)
NM_006440.5(TXNRD2):c.56C>T (p.Thr19Met)
NM_006440.5(TXNRD2):c.58C>T (p.Gln20Ter)
NM_006440.5(TXNRD2):c.591+1G>A rs200610775
NM_006440.5(TXNRD2):c.591+4_591+5del
NM_006440.5(TXNRD2):c.592-2_602del
NM_006440.5(TXNRD2):c.593T>C (p.Ile198Thr)
NM_006440.5(TXNRD2):c.599G>A (p.Gly200Asp) rs112854076
NM_006440.5(TXNRD2):c.59A>T (p.Gln20Leu)
NM_006440.5(TXNRD2):c.631A>G (p.Ile211Val)
NM_006440.5(TXNRD2):c.64G>A (p.Val22Met) rs370819229
NM_006440.5(TXNRD2):c.64G>T (p.Val22Leu) rs370819229
NM_006440.5(TXNRD2):c.650C>T (p.Ser217Phe)
NM_006440.5(TXNRD2):c.655G>C (p.Gly219Arg) rs1940404247
NM_006440.5(TXNRD2):c.662+6G>A rs887858049
NM_006440.5(TXNRD2):c.663-3C>T rs778588418
NM_006440.5(TXNRD2):c.670G>T (p.Val224Phe)
NM_006440.5(TXNRD2):c.677C>T (p.Ala226Val)
NM_006440.5(TXNRD2):c.682+5C>G
NM_006440.5(TXNRD2):c.682+6C>A
NM_006440.5(TXNRD2):c.692T>C (p.Leu231Pro)
NM_006440.5(TXNRD2):c.704G>C (p.Gly235Ala) rs1259831281
NM_006440.5(TXNRD2):c.70_76dup (p.Val26fs)
NM_006440.5(TXNRD2):c.722G>A (p.Gly241Glu)
NM_006440.5(TXNRD2):c.737T>C (p.Ile246Thr)
NM_006440.5(TXNRD2):c.751A>G (p.Ile251Val)
NM_006440.5(TXNRD2):c.754C>G (p.Pro252Ala)
NM_006440.5(TXNRD2):c.769G>A (p.Asp257Asn)
NM_006440.5(TXNRD2):c.774+6G>T
NM_006440.5(TXNRD2):c.775-1G>A rs2145970512
NM_006440.5(TXNRD2):c.77T>C (p.Val26Ala) rs925920723
NM_006440.5(TXNRD2):c.77_83dup (p.Ala30fs) rs1162449700
NM_006440.5(TXNRD2):c.789G>A (p.Met263Ile) rs1939469611
NM_006440.5(TXNRD2):c.812A>G (p.His271Arg)
NM_006440.5(TXNRD2):c.839C>T (p.Ala280Val) rs2145970224
NM_006440.5(TXNRD2):c.83G>T (p.Gly28Val)
NM_006440.5(TXNRD2):c.848G>A (p.Arg283Gln)
NM_006440.5(TXNRD2):c.87_98del (p.27RGAA[1]) rs766448975
NM_006440.5(TXNRD2):c.87_98dup (p.27RGAA[3]) rs766448975
NM_006440.5(TXNRD2):c.8C>T (p.Ala3Val)
NM_006440.5(TXNRD2):c.90_101dup (p.27_30RGAA[3]) rs1008629337
NM_006440.5(TXNRD2):c.917C>G (p.Thr306Arg)
NM_006440.5(TXNRD2):c.92G>C (p.Arg31Pro)
NM_006440.5(TXNRD2):c.934G>A (p.Val312Ile)
NM_006440.5(TXNRD2):c.955G>A (p.Val319Ile)
NM_006440.5(TXNRD2):c.958C>T (p.Pro320Ser) rs1938879786
NM_006440.5(TXNRD2):c.965C>G (p.Thr322Ser) rs752178604
NM_006440.5(TXNRD2):c.967A>G (p.Arg323Gly)
NM_006440.5(TXNRD2):c.974T>C (p.Leu325Pro) rs759476139
NM_006663.4(PPP1R13L):c.2167A>C (p.Thr723Pro) rs1972850689
NM_006663.4(PPP1R13L):c.2396G>C (p.Trp799Ser) rs748300482
NM_006767.4(LZTR1):c.385A>G (p.Ser129Gly)
NM_007271.4(STK38):c.222dup (p.Glu75fs) rs1582441467
NM_013266.4(CTNNA3):c.2053A>G (p.Ser685Gly) rs199697536
NM_013266.4(CTNNA3):c.242C>T (p.Thr81Ile) rs730880070
NM_013266.4(CTNNA3):c.2430del (p.Ala811fs) rs869025379
NM_013266.4(CTNNA3):c.2571del (p.Pro857_Leu858insTer) rs587782935
NM_014000.3(VCL):c.1343T>C (p.Leu448Pro)
NM_014000.3(VCL):c.1382C>A (p.Ala461Asp) rs886038800
NM_014000.3(VCL):c.1639C>T (p.Arg547Ter) rs397517234
NM_014000.3(VCL):c.1973T>C (p.Val658Ala) rs372691803
NM_014000.3(VCL):c.2035G>T (p.Ala679Ser) rs375392559
NM_014000.3(VCL):c.2882C>A (p.Pro961Gln) rs754591130
NM_014391.2(ANKRD1):c.-131C>G rs538475043
NM_014391.3(ANKRD1):c.*286C>T rs886047479
NM_014391.3(ANKRD1):c.*371T>G rs531523887
NM_014391.3(ANKRD1):c.*607C>A rs146219881
NM_014391.3(ANKRD1):c.*634G>A rs1301081047
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs) rs776659587
NM_014391.3(ANKRD1):c.37_93dup (p.Lys13_Gly31dup) rs1564575040
NM_014391.3(ANKRD1):c.437C>T (p.Pro146Leu) rs1181799982
NM_014391.3(ANKRD1):c.55G>C (p.Glu19Gln) rs886047480
NM_014391.3(ANKRD1):c.677C>T (p.Ala226Val) rs730880050
NM_014391.3(ANKRD1):c.798G>C (p.Lys266Asn) rs1847359872
NM_014423.4(AFF4):c.2324G>C (p.Arg775Pro)
NM_014908.4(DOLK):c.374C>A (p.Ser125Ter) rs1841682105
NM_015978.3(TNNI3K):c.731G>T (p.Arg244Leu)
NM_015978.3(TNNI3K):c.736G>C (p.Gly246Arg)
NM_015978.3(TNNI3K):c.92T>G (p.Leu31Ter)
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro) rs61744760
NM_017636.4(TRPM4):c.337C>T (p.Arg113Cys)
NM_019884.3(GSK3A):c.146G>C (p.Gly49Ala) rs1131690798
NM_020297.4(ABCC9):c.3284G>A (p.Arg1095His) rs869025347
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.4637G>T (p.Arg1546Leu) rs773377070
NM_020297.4(ABCC9):c.588C>G (p.Phe196Leu) rs1948583041
NM_020433.5(JPH2):c.1227C>G (p.Asn409Lys) rs869025441
NM_020433.5(JPH2):c.479G>A (p.Arg160His)
NM_020433.5(JPH2):c.598T>G (p.Phe200Val)
NM_022114.4(PRDM16):c.1788C>G (p.Ser596Arg) rs766972389
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) rs1555738085
NM_024422.6(DSC2):c.1035T>G (p.Ile345Met) rs1255214987
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_024422.6(DSC2):c.448G>A (p.Gly150Ser)
NM_032578.4(MYPN):c.1600+4A>G rs1589577356
NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp) rs754707304
NM_032578.4(MYPN):c.3335C>A (p.Pro1112His) rs71534278
NM_032578.4(MYPN):c.3808C>G (p.Gln1270Glu) rs730880169
NM_133379.5(TTN):c.10443del (p.Lys3481fs) rs869312096
NM_133379.5(TTN):c.13410dup (p.Gly4471fs) rs768458450
NM_133379.5(TTN):c.13660dup (p.Ile4554fs) rs771985828
NM_133379.5(TTN):c.13705G>T (p.Glu4569Ter) rs372994805
NM_133379.5(TTN):c.14460_14470dup (p.Arg4824fs) rs869312088
NM_133379.5(TTN):c.15305del (p.Thr5102fs) rs869312097
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_144573.4(NEXN):c.1175G>A (p.Arg392Gln) rs971313210
NM_144573.4(NEXN):c.1238A>G (p.Gln413Arg) rs1650473441
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144573.4(NEXN):c.1630del (p.Gln544fs) rs730880172
NM_145331.3(MAP3K7):c.795TTG[1] (p.Cys266del) rs2127974453
NM_152879.3(DGKD):c.541C>T (p.Arg181Cys)
NM_170707.4(LMNA):c.-11A>G
NM_170707.4(LMNA):c.-5C>G
NM_170707.4(LMNA):c.-6C>T
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp) rs1237093879
NM_170707.4(LMNA):c.1030G>A (p.Glu344Lys)
NM_170707.4(LMNA):c.1034T>C (p.Met345Thr)
NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys) rs267607548
NM_170707.4(LMNA):c.1052G>A (p.Arg351Lys)
NM_170707.4(LMNA):c.1145G>A (p.Gly382Asp)
NM_170707.4(LMNA):c.1157+5G>T
NM_170707.4(LMNA):c.1162C>T (p.Arg388Cys) rs58133342
NM_170707.4(LMNA):c.1169C>T (p.Ser390Phe)
NM_170707.4(LMNA):c.1181C>T (p.Thr394Ile) rs757887400
NM_170707.4(LMNA):c.1184C>G (p.Ser395Trp)
NM_170707.4(LMNA):c.1220C>T (p.Ser407Phe)
NM_170707.4(LMNA):c.1230G>A (p.Gln410=) rs1651615685
NM_170707.4(LMNA):c.1237G>A (p.Gly413Ser)
NM_170707.4(LMNA):c.1238G>A (p.Gly413Asp) rs1350031185
NM_170707.4(LMNA):c.1256G>T (p.Arg419Leu)
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn) rs1385994420
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs) rs267607577
NM_170707.4(LMNA):c.1312G>A (p.Gly438Arg) rs766932100
NM_170707.4(LMNA):c.1316G>A (p.Arg439His)
NM_170707.4(LMNA):c.1324G>T (p.Val442Leu)
NM_170707.4(LMNA):c.1367A>G (p.Asn456Ser)
NM_170707.4(LMNA):c.1376A>T (p.Asn459Ile)
NM_170707.4(LMNA):c.1380+5dup rs2102891660
NM_170707.4(LMNA):c.1387T>C (p.Ser463Pro)
NM_170707.4(LMNA):c.1419T>A (p.Asn473Lys)
NM_170707.4(LMNA):c.1420G>A (p.Gly474Arg)
NM_170707.4(LMNA):c.1422_1424dup (p.Gly474_Asp475insGlu) rs267607579
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala) rs886042993
NM_170707.4(LMNA):c.1453C>T (p.Pro485Ser)
NM_170707.4(LMNA):c.1472C>G (p.Ala491Gly)
NM_170707.4(LMNA):c.1480G>A (p.Val494Met)
NM_170707.4(LMNA):c.1489-5T>C
NM_170707.4(LMNA):c.1498G>T (p.Ala500Ser)
NM_170707.4(LMNA):c.1501G>A (p.Gly501Arg)
NM_170707.4(LMNA):c.1510G>A (p.Ala504Thr)
NM_170707.4(LMNA):c.1520G>A (p.Ser507Asn)
NM_170707.4(LMNA):c.1525C>A (p.Pro509Thr) rs762847359
NM_170707.4(LMNA):c.1525C>T (p.Pro509Ser) rs762847359
NM_170707.4(LMNA):c.1531G>A (p.Asp511Asn) rs759408439
NM_170707.4(LMNA):c.1531G>C (p.Asp511His)
NM_170707.4(LMNA):c.1561G>A (p.Gly521Ser)
NM_170707.4(LMNA):c.1567G>C (p.Gly523Arg) rs201583907
NM_170707.4(LMNA):c.1600A>G (p.Thr534Ala) rs1311820114
NM_170707.4(LMNA):c.161C>T (p.Thr54Met) rs879253992
NM_170707.4(LMNA):c.1625A>G (p.Lys542Arg)
NM_170707.4(LMNA):c.1642A>G (p.Thr548Ala)
NM_170707.4(LMNA):c.1646T>C (p.Val549Ala)
NM_170707.4(LMNA):c.1657G>C (p.Asp553His)
NM_170707.4(LMNA):c.1669G>A (p.Asp557Asn)
NM_170707.4(LMNA):c.1685T>A (p.Leu562His) rs1057156731
NM_170707.4(LMNA):c.1690C>T (p.His564Tyr)
NM_170707.4(LMNA):c.1696C>G (p.His566Asp) rs1195284382
NM_170707.4(LMNA):c.1700G>A (p.Gly567Asp)
NM_170707.4(LMNA):c.173G>T (p.Gly58Val)
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.174G>T (p.Gly58=)
NM_170707.4(LMNA):c.1766G>A (p.Gly589Glu)
NM_170707.4(LMNA):c.1789A>G (p.Lys597Glu)
NM_170707.4(LMNA):c.1791G>T (p.Lys597Asn)
NM_170707.4(LMNA):c.1793C>G (p.Ala598Gly) rs774494686
NM_170707.4(LMNA):c.1801A>C (p.Ser601Arg)
NM_170707.4(LMNA):c.1813G>T (p.Ala605Ser) rs2102901753
NM_170707.4(LMNA):c.1837T>C (p.Ser613Pro) rs147627124
NM_170707.4(LMNA):c.1844C>A (p.Ser615Tyr)
NM_170707.4(LMNA):c.1873A>T (p.Ser625Cys) rs398124550
NM_170707.4(LMNA):c.1886T>G (p.Val629Gly)
NM_170707.4(LMNA):c.1903G>A (p.Gly635Ser)
NM_170707.4(LMNA):c.190A>G (p.Thr64Ala)
NM_170707.4(LMNA):c.1911C>A (p.Phe637Leu) rs117939448
NM_170707.4(LMNA):c.1922T>G (p.Leu641Arg) rs1651878365
NM_170707.4(LMNA):c.193G>A (p.Glu65Lys)
NM_170707.4(LMNA):c.1949A>G (p.Asn650Ser) rs775728847
NM_170707.4(LMNA):c.1961dup (p.Thr655fs) rs863225024
NM_170707.4(LMNA):c.1969-1G>T rs1060499873
NM_170707.4(LMNA):c.1969A>G (p.Ser657Gly)
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg) rs1023544978
NM_170707.4(LMNA):c.1990A>C (p.Met664Leu)
NM_170707.4(LMNA):c.1995A>T (p.Ter665Tyr)
NM_170707.4(LMNA):c.202G>A (p.Glu68Lys) rs1260675493
NM_170707.4(LMNA):c.226G>A (p.Gly76Ser) rs745651340
NM_170707.4(LMNA):c.235G>A (p.Ala79Thr)
NM_170707.4(LMNA):c.236C>A (p.Ala79Asp) rs1553261972
NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)
NM_170707.4(LMNA):c.263C>G (p.Ala88Gly) rs869025455
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile) rs1306829976
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser) rs1553262000
NM_170707.4(LMNA):c.295C>G (p.Arg99Gly)
NM_170707.4(LMNA):c.302G>T (p.Arg101Leu)
NM_170707.4(LMNA):c.320G>A (p.Ser107Asn)
NM_170707.4(LMNA):c.357-9C>A
NM_170707.4(LMNA):c.386C>A (p.Ala129Asp) rs768203943
NM_170707.4(LMNA):c.388G>T (p.Ala130Ser)
NM_170707.4(LMNA):c.46G>T (p.Ala16Ser)
NM_170707.4(LMNA):c.470C>G (p.Thr157Arg) rs754097769
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp) rs770799870
NM_170707.4(LMNA):c.491A>G (p.Asp164Gly) rs1650988739
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu) rs1650991296
NM_170707.4(LMNA):c.536C>G (p.Ala179Gly)
NM_170707.4(LMNA):c.536C>T (p.Ala179Val)
NM_170707.4(LMNA):c.539A>G (p.Lys180Arg)
NM_170707.4(LMNA):c.58C>T (p.Pro20Ser)
NM_170707.4(LMNA):c.661C>T (p.Arg221Cys) rs869025457
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr) rs727505357
NM_170707.4(LMNA):c.703C>T (p.Arg235Cys) rs201227908
NM_170707.4(LMNA):c.727G>A (p.Asp243Asn)
NM_170707.4(LMNA):c.731C>A (p.Ala244Glu)
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn) rs1553265346
NM_170707.4(LMNA):c.772C>G (p.Gln258Glu) rs2102881769
NM_170707.4(LMNA):c.807C>G (p.Ala269=)
NM_170707.4(LMNA):c.839G>A (p.Arg280Lys)
NM_170707.4(LMNA):c.893G>A (p.Arg298His)
NM_170707.4(LMNA):c.895A>T (p.Ile299Phe)
NM_170707.4(LMNA):c.8C>A (p.Thr3Asn) rs1235021953
NM_170707.4(LMNA):c.908C>T (p.Ser303Phe)
NM_170707.4(LMNA):c.937-6C>A rs759083379
NM_170707.4(LMNA):c.937-8C>G rs751707982
NM_170707.4(LMNA):c.937-9C>A rs1332011298
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr) rs769498020
NM_170707.4(LMNA):c.943G>A (p.Ala315Thr)
NM_170707.4(LMNA):c.946A>G (p.Lys316Glu)
NM_170707.4(LMNA):c.962G>C (p.Arg321Pro)
NM_170707.4(LMNA):c.985C>T (p.Arg329Cys) rs775159300
NM_172201.2(KCNE2):c.285G>T (p.Lys95Asn) rs1555837113
NM_174934.4(SCN4B):c.271C>A (p.Pro91Thr) rs113659925
NM_182914.3(SYNE2):c.14407del (p.Ser4803fs) rs869025529
NM_182961.4(SYNE1):c.14895_14896del (p.His4965fs) rs730880219
NM_198060.4(NRAP):c.3703-1G>T
NM_213569.2(NEBL):c.358-4751_358-4740del rs2130816665

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