ClinVar Miner

List of variants reported as likely benign for Primary dilated cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 746
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HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.346-15T>A rs11595794 0.01849
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_014391.3(ANKRD1):c.*366G>A rs17102330 0.01092
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01021
NM_014391.3(ANKRD1):c.*41T>G rs150520404 0.00788
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_014391.3(ANKRD1):c.-34C>T rs114144205 0.00522
NM_014391.3(ANKRD1):c.*588A>C rs137950655 0.00510
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) rs3827462 0.00356
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) rs143584663 0.00245
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_001032283.3(TMPO):c.565+1728G>C rs145703021 0.00188
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_006440.5(TXNRD2):c.505G>A (p.Gly169Ser) rs138462062 0.00128
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_006440.5(TXNRD2):c.1016A>T (p.Gln339Leu) rs200606822 0.00106
NM_006440.5(TXNRD2):c.1195G>A (p.Val399Ile) rs201222740 0.00104
NM_006440.5(TXNRD2):c.1523G>A (p.Arg508His) rs201391000 0.00102
NM_006440.5(TXNRD2):c.762C>T (p.Arg254=) rs180876642 0.00101
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025 0.00098
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430 0.00094
NM_001318895.3(FHL2):c.85G>A (p.Val29Met) rs56284940 0.00093
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_181486.4(TBX5):c.836G>A (p.Arg279Gln) rs115178276 0.00087
NM_001458.5(FLNC):c.7947C>T (p.Phe2649=) rs368849358 0.00083
NM_006393.3(NEBL):c.1838G>A (p.Arg613Gln) rs151035799 0.00074
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_022114.4(PRDM16):c.3154G>A (p.Ala1052Thr) rs113879347 0.00072
NM_133379.5(TTN):c.16613G>A (p.Arg5538His) rs145932311 0.00071
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_006440.5(TXNRD2):c.303A>G (p.Ala101=) rs200076623 0.00069
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_006393.3(NEBL):c.994G>A (p.Val332Ile) rs150518045 0.00065
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp) rs114875104 0.00064
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021 0.00064
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_006393.3(NEBL):c.2054C>T (p.Ala685Val) rs146218038 0.00051
NM_006440.5(TXNRD2):c.775-19G>A rs189646218 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_006440.5(TXNRD2):c.1499G>T (p.Cys500Phe) rs554063995 0.00044
NM_006440.5(TXNRD2):c.592-17C>A rs375350567 0.00044
NM_006440.5(TXNRD2):c.63C>T (p.Ala21=) rs562298402 0.00042
NM_006440.5(TXNRD2):c.656G>C (p.Gly219Ala) rs199510610 0.00042
NM_006440.5(TXNRD2):c.375-8C>T rs180876844 0.00041
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_006440.5(TXNRD2):c.662+11C>G rs373734411 0.00038
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser) rs148189486 0.00037
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894 0.00036
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys) rs140148322 0.00036
NM_006393.3(NEBL):c.1962+7A>G rs371630900 0.00036
NM_006393.3(NEBL):c.908A>G (p.Glu303Gly) rs139610204 0.00036
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr) rs201913959 0.00036
NM_006393.3(NEBL):c.2148+4T>C rs193163659 0.00035
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_006393.3(NEBL):c.827T>C (p.Met276Thr) rs141285752 0.00033
NM_006440.5(TXNRD2):c.1308C>T (p.Phe436=) rs190301927 0.00031
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His) rs374147064 0.00030
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu) rs143644290 0.00030
NM_006440.5(TXNRD2):c.229+15A>G rs370756162 0.00029
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_001148.6(ANK2):c.1910C>T (p.Ala637Val) rs150488571 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_170707.4(LMNA):c.192C>T (p.Thr64=) rs137969290 0.00028
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_001318895.3(FHL2):c.738C>T (p.Asn246=) rs755230829 0.00024
NM_006440.5(TXNRD2):c.957C>G (p.Val319=) rs371700934 0.00024
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_006440.5(TXNRD2):c.1275+18C>T rs374333900 0.00023
NM_006393.3(NEBL):c.1449+14G>A rs373699154 0.00022
NM_006393.3(NEBL):c.2673A>G (p.Thr891=) rs202127185 0.00022
NM_006393.3(NEBL):c.2964C>T (p.Asp988=) rs144946187 0.00022
NM_006393.3(NEBL):c.82-4A>G rs368268112 0.00021
NM_006440.5(TXNRD2):c.173-19del rs770032943 0.00020
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_001267550.2(TTN):c.38975A>T (p.Lys12992Ile) rs746094582 0.00019
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_006393.3(NEBL):c.2724A>T (p.Ser908=) rs146673676 0.00019
NM_006393.3(NEBL):c.369+5G>A rs200249470 0.00019
NM_006393.3(NEBL):c.69T>C (p.Asn23=) rs746405718 0.00019
NM_006440.5(TXNRD2):c.1155G>C (p.Gly385=) rs370957634 0.00019
NM_006440.5(TXNRD2):c.585C>G (p.Pro195=) rs201760306 0.00019
NM_001318895.3(FHL2):c.174C>T (p.Asp58=) rs141208906 0.00018
NM_006393.3(NEBL):c.2307T>C (p.Ala769=) rs144815863 0.00018
NM_006440.5(TXNRD2):c.949+10C>T rs563775080 0.00018
NM_006440.5(TXNRD2):c.682+15C>T rs201450101 0.00017
NM_002471.4(MYH6):c.67C>T (p.Arg23Cys) rs587782959 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440 0.00016
NM_006393.3(NEBL):c.1302C>G (p.Ile434Met) rs202112717 0.00016
NM_006393.3(NEBL):c.2775C>T (p.Pro925=) rs199887353 0.00016
NM_006440.5(TXNRD2):c.834C>G (p.Gly278=) rs371075332 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=) rs368706722 0.00015
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_006393.3(NEBL):c.240C>T (p.Ile80=) rs727503337 0.00014
NM_006393.3(NEBL):c.2868+9C>T rs377236750 0.00014
NM_006393.3(NEBL):c.489T>C (p.Tyr163=) rs141153708 0.00014
NM_006440.5(TXNRD2):c.1182+20G>A rs369759249 0.00014
NM_006440.5(TXNRD2):c.1276-15G>A rs374202570 0.00014
NM_006440.5(TXNRD2):c.771C>T (p.Asp257=) rs536545192 0.00014
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_001318895.3(FHL2):c.507C>T (p.Ile169=) rs539301452 0.00013
NM_170707.4(LMNA):c.1051A>C (p.Arg351=) rs771623461 0.00013
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp) rs202206216 0.00012
NM_006393.3(NEBL):c.1008+14C>T rs369037243 0.00012
NM_006440.5(TXNRD2):c.103+13C>T rs917431888 0.00012
NM_006440.5(TXNRD2):c.96C>T (p.Gly32=) rs767140410 0.00012
NM_170707.4(LMNA):c.811-12C>T rs372962650 0.00012
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341 0.00011
NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala) rs375309278 0.00011
NM_006393.3(NEBL):c.2650C>T (p.His884Tyr) rs191259903 0.00011
NM_006440.5(TXNRD2):c.543C>T (p.Ala181=) rs367754522 0.00011
NM_006440.5(TXNRD2):c.801C>T (p.His267=) rs550803593 0.00010
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_006393.3(NEBL):c.2889C>T (p.Tyr963=) rs202184399 0.00009
NM_006393.3(NEBL):c.537A>G (p.Arg179=) rs562815398 0.00009
NM_006440.5(TXNRD2):c.1224G>C (p.Val408=) rs375650172 0.00009
NM_006440.5(TXNRD2):c.135C>T (p.Val45=) rs752213778 0.00009
NM_014391.3(ANKRD1):c.108T>C (p.Ala36=) rs145211719 0.00009
NM_170707.4(LMNA):c.150C>T (p.Arg50=) rs397517894 0.00009
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_006393.3(NEBL):c.2139C>T (p.Asn713=) rs202147389 0.00008
NM_006393.3(NEBL):c.259-13T>G rs923819811 0.00008
NM_006440.5(TXNRD2):c.949+11G>A rs772807846 0.00007
NM_001077653.2(TBX20):c.10A>T (p.Thr4Ser) rs147393830 0.00006
NM_001267550.2(TTN):c.107696T>C (p.Ile35899Thr) rs372276487 0.00006
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_006393.3(NEBL):c.1339-20T>C rs370957821 0.00006
NM_006393.3(NEBL):c.1870G>C (p.Val624Leu) rs186851083 0.00006
NM_006393.3(NEBL):c.1878C>T (p.Tyr626=) rs551329782 0.00006
NM_006393.3(NEBL):c.1998G>A (p.Pro666=) rs761798662 0.00006
NM_006393.3(NEBL):c.2055G>A (p.Ala685=) rs746081261 0.00006
NM_006393.3(NEBL):c.2619G>A (p.Ala873=) rs140803920 0.00006
NM_006393.3(NEBL):c.367G>A (p.Glu123Lys) rs189440246 0.00006
NM_006393.3(NEBL):c.777T>G (p.Leu259=) rs377624818 0.00006
NM_006440.5(TXNRD2):c.104-19C>A rs531374621 0.00006
NM_006440.5(TXNRD2):c.1176C>T (p.Tyr392=) rs544242322 0.00006
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967 0.00006
NM_006440.5(TXNRD2):c.1445+13G>T rs938029725 0.00006
NM_006440.5(TXNRD2):c.174C>T (p.Ala58=) rs767236339 0.00006
NM_006440.5(TXNRD2):c.504C>T (p.Cys168=) rs752481782 0.00006
NM_006440.5(TXNRD2):c.714C>T (p.Thr238=) rs202225486 0.00006
NM_006440.5(TXNRD2):c.72C>A (p.Gly24=) rs1032624911 0.00006
NM_006440.5(TXNRD2):c.774+11A>G rs779646678 0.00006
NM_170707.4(LMNA):c.1381-6C>T rs371635492 0.00006
NM_170707.4(LMNA):c.1770C>T (p.Thr590=) rs397517896 0.00006
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_001134363.3(RBM20):c.3523A>G (p.Thr1175Ala) rs768548680 0.00005
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg) rs750886219 0.00005
NM_004006.3(DMD):c.10228G>A (p.Val3410Ile) rs751030250 0.00005
NM_006393.3(NEBL):c.1671+12A>C rs77445663 0.00005
NM_006393.3(NEBL):c.2055+7C>T rs368793318 0.00005
NM_006393.3(NEBL):c.2346+19A>G rs376097780 0.00005
NM_006393.3(NEBL):c.2406C>T (p.Asp802=) rs748203517 0.00005
NM_006393.3(NEBL):c.259-8T>C rs753391210 0.00005
NM_006393.3(NEBL):c.2748G>A (p.Pro916=) rs778128527 0.00005
NM_006393.3(NEBL):c.2761+15C>T rs760162209 0.00005
NM_006393.3(NEBL):c.720G>A (p.Lys240=) rs746237029 0.00005
NM_006393.3(NEBL):c.792G>A (p.Ala264=) rs375771045 0.00005
NM_006440.5(TXNRD2):c.1008C>T (p.Pro336=) rs746370708 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_170707.4(LMNA):c.1803C>T (p.Ser601=) rs267607604 0.00005
NM_170707.4(LMNA):c.357-8T>C rs1053291240 0.00005
NM_000231.3(SGCG):c.371G>T (p.Gly124Val) rs183204936 0.00004
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val) rs371194826 0.00004
NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr) rs769226745 0.00004
NM_001318895.3(FHL2):c.84C>T (p.Cys28=) rs375234968 0.00004
NM_006393.3(NEBL):c.1008+15G>A rs375728589 0.00004
NM_006393.3(NEBL):c.1339-19_1339-18insC rs762491132 0.00004
NM_006393.3(NEBL):c.1834G>A (p.Glu612Lys) rs778658096 0.00004
NM_006393.3(NEBL):c.1893A>G (p.Lys631=) rs532807680 0.00004
NM_006393.3(NEBL):c.2013G>A (p.Pro671=) rs781677922 0.00004
NM_006393.3(NEBL):c.2190T>C (p.Ser730=) rs371975934 0.00004
NM_006393.3(NEBL):c.2240C>T (p.Ser747Leu) rs71578957 0.00004
NM_006393.3(NEBL):c.2347-9C>T rs750957531 0.00004
NM_006393.3(NEBL):c.2518+14G>A rs551568597 0.00004
NM_006393.3(NEBL):c.2703C>T (p.Ser901=) rs374451899 0.00004
NM_006393.3(NEBL):c.2868+20G>A rs780451303 0.00004
NM_006393.3(NEBL):c.2943C>T (p.Ile981=) rs201105598 0.00004
NM_006393.3(NEBL):c.561G>C (p.Gln187His) rs75301590 0.00004
NM_006393.3(NEBL):c.57G>C (p.Gly19=) rs764290131 0.00004
NM_006393.3(NEBL):c.903+12A>G rs745380674 0.00004
NM_006440.5(TXNRD2):c.1149C>T (p.Phe383=) rs768999643 0.00004
NM_006440.5(TXNRD2):c.1182+19C>T rs377040175 0.00004
NM_006440.5(TXNRD2):c.1305G>A (p.Glu435=) rs919971767 0.00004
NM_006440.5(TXNRD2):c.1368C>T (p.Pro456=) rs1388056453 0.00004
NM_006440.5(TXNRD2):c.507C>T (p.Gly169=) rs374068797 0.00004
NM_006440.5(TXNRD2):c.949+13C>T rs540907669 0.00004
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe) rs565398652 0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_170707.4(LMNA):c.1311C>T (p.Ser437=) rs763224059 0.00004
NM_170707.4(LMNA):c.726G>A (p.Ala242=) rs763625309 0.00004
NM_001318895.3(FHL2):c.156+11C>T rs371829274 0.00003
NM_001318895.3(FHL2):c.261G>C (p.Leu87=) rs758881698 0.00003
NM_001318895.3(FHL2):c.33C>T (p.Asn11=) rs760104483 0.00003
NM_001318895.3(FHL2):c.462T>C (p.Tyr154=) rs397517960 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_006393.3(NEBL):c.1689A>G (p.Glu563=) rs1423516014 0.00003
NM_006393.3(NEBL):c.1776+18C>G rs373474665 0.00003
NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu) rs200756166 0.00003
NM_006393.3(NEBL):c.2149-11T>C rs369297283 0.00003
NM_006393.3(NEBL):c.2149-17G>T rs750555294 0.00003
NM_006393.3(NEBL):c.2206G>T (p.Glu736Ter) rs780056247 0.00003
NM_006393.3(NEBL):c.2394T>C (p.Thr798=) rs764897449 0.00003
NM_006393.3(NEBL):c.2667C>T (p.Phe889=) rs780103943 0.00003
NM_006393.3(NEBL):c.498C>T (p.Asp166=) rs371105861 0.00003
NM_006393.3(NEBL):c.81+8A>G rs371780063 0.00003
NM_006440.5(TXNRD2):c.1464G>A (p.Ala488=) rs372816982 0.00003
NM_006440.5(TXNRD2):c.1474C>T (p.Arg492Trp) rs146133764 0.00003
NM_006440.5(TXNRD2):c.1554G>A (p.Thr518=) rs144497090 0.00003
NM_006440.5(TXNRD2):c.360C>T (p.Pro120=) rs780233789 0.00003
NM_006440.5(TXNRD2):c.449+10C>G rs552910679 0.00003
NM_006440.5(TXNRD2):c.449+17C>T rs370505160 0.00003
NM_006440.5(TXNRD2):c.489C>T (p.Asp163=) rs751116028 0.00003
NM_006440.5(TXNRD2):c.846G>A (p.Ser282=) rs373979565 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_170707.4(LMNA):c.1699-7T>C rs771074100 0.00003
NM_170707.4(LMNA):c.885G>A (p.Ser295=) rs776999079 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln) rs397517520 0.00002
NM_001267550.2(TTN):c.46079T>C (p.Ile15360Thr) rs1465320800 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001318895.3(FHL2):c.186T>C (p.His62=) rs1462640060 0.00002
NM_001318895.3(FHL2):c.502-16C>T rs1278363053 0.00002
NM_001318895.3(FHL2):c.651T>C (p.Tyr217=) rs1045935903 0.00002
NM_001318895.3(FHL2):c.688+7G>A rs768230517 0.00002
NM_001318895.3(FHL2):c.720G>A (p.Glu240=) rs777732229 0.00002
NM_003239.5(TGFB3):c.883G>C (p.Gly295Arg) rs766164843 0.00002
NM_003673.4(TCAP):c.259C>T (p.Arg87Trp) rs777518512 0.00002
NM_006393.3(NEBL):c.1978C>A (p.Gln660Lys) rs11012351 0.00002
NM_006393.3(NEBL):c.2043G>A (p.Glu681=) rs763968575 0.00002
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala) rs780384504 0.00002
NM_006393.3(NEBL):c.2148+19C>A rs769120353 0.00002
NM_006393.3(NEBL):c.2242-16A>G rs757332145 0.00002
NM_006393.3(NEBL):c.2395C>T (p.Pro799Ser) rs566320226 0.00002
NM_006393.3(NEBL):c.2397C>T (p.Pro799=) rs766216481 0.00002
NM_006393.3(NEBL):c.2529T>G (p.Val843=) rs199821922 0.00002
NM_006393.3(NEBL):c.2577C>T (p.Asp859=) rs746553915 0.00002
NM_006393.3(NEBL):c.2757A>G (p.Glu919=) rs878854903 0.00002
NM_006393.3(NEBL):c.2869-10C>G rs373167913 0.00002
NM_006393.3(NEBL):c.82-16C>A rs199531054 0.00002
NM_006393.3(NEBL):c.903+15T>C rs770515409 0.00002
NM_006393.3(NEBL):c.978C>T (p.His326=) rs1479545854 0.00002
NM_006440.5(TXNRD2):c.1086+11C>T rs369332144 0.00002
NM_006440.5(TXNRD2):c.1087-8T>C rs1000041198 0.00002
NM_006440.5(TXNRD2):c.1113G>A (p.Ala371=) rs745421312 0.00002
NM_006440.5(TXNRD2):c.1122C>T (p.Ala374=) rs780948248 0.00002
NM_006440.5(TXNRD2):c.1152C>T (p.Gly384=) rs766934707 0.00002
NM_006440.5(TXNRD2):c.1398T>C (p.Leu466=) rs781691483 0.00002
NM_006440.5(TXNRD2):c.230-9A>G rs368172149 0.00002
NM_006440.5(TXNRD2):c.529-5C>T rs766288973 0.00002
NM_006440.5(TXNRD2):c.918G>A (p.Thr306=) rs763086193 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_170707.4(LMNA):c.1157+6C>G rs374768416 0.00002
NM_170707.4(LMNA):c.1236G>C (p.Gly412=) rs763537103 0.00002
NM_170707.4(LMNA):c.1755C>T (p.Thr585=) rs545752475 0.00002
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.579T>C (p.Ala193=) rs749728556 0.00002
NM_170707.4(LMNA):c.867C>T (p.His289=) rs780415585 0.00002
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_001105206.3(LAMA4):c.188C>T (p.Ala63Val) rs370868386 0.00001
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) rs876657970 0.00001
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys) rs866975469 0.00001
NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile) rs769311670 0.00001
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) rs539735520 0.00001
NM_001267550.2(TTN):c.106342C>T (p.Arg35448Trp) rs530453291 0.00001
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln) rs397517527 0.00001
NM_001267550.2(TTN):c.3011A>C (p.Glu1004Ala) rs1413214135 0.00001
NM_001267550.2(TTN):c.41282G>A (p.Arg13761His) rs781139091 0.00001
NM_001267550.2(TTN):c.47495G>A (p.Arg15832Gln) rs376140223 0.00001
NM_001267550.2(TTN):c.50999G>A (p.Arg17000Lys) rs767481574 0.00001
NM_001267550.2(TTN):c.59920C>A (p.Pro19974Thr) rs778877970 0.00001
NM_001267550.2(TTN):c.6915G>T (p.Glu2305Asp) rs778211562 0.00001
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile) rs397517690 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001318895.3(FHL2):c.141C>T (p.Ile47=) rs757222173 0.00001
NM_001318895.3(FHL2):c.156+8C>T rs1233115186 0.00001
NM_001318895.3(FHL2):c.157-14G>A rs1681265871 0.00001
NM_001318895.3(FHL2):c.291C>T (p.Tyr97=) rs767220225 0.00001
NM_001318895.3(FHL2):c.333T>C (p.Gly111=) rs780800767 0.00001
NM_001318895.3(FHL2):c.502-11C>T rs750695509 0.00001
NM_001318895.3(FHL2):c.513G>A (p.Thr171=) rs1018740778 0.00001
NM_001318895.3(FHL2):c.609C>T (p.Arg203=) rs745753003 0.00001
NM_001318895.3(FHL2):c.688+11C>T rs1218219091 0.00001
NM_004006.3(DMD):c.*39A>T rs371730838 0.00001
NM_006393.3(NEBL):c.1074A>G (p.Pro358=) rs1180113998 0.00001
NM_006393.3(NEBL):c.1346A>G (p.Tyr449Cys) rs535927510 0.00001
NM_006393.3(NEBL):c.1449+8G>C rs754000768 0.00001
NM_006393.3(NEBL):c.1560+10C>A rs753190648 0.00001
NM_006393.3(NEBL):c.1560+15A>T rs190353004 0.00001
NM_006393.3(NEBL):c.1632T>C (p.Asp544=) rs1308048675 0.00001
NM_006393.3(NEBL):c.2016G>A (p.Glu672=) rs757626106 0.00001
NM_006393.3(NEBL):c.2055+8G>A rs747359685 0.00001
NM_006393.3(NEBL):c.2232T>C (p.Asn744=) rs1588672485 0.00001
NM_006393.3(NEBL):c.2451C>T (p.Ser817=) rs375714953 0.00001
NM_006393.3(NEBL):c.2518+10C>T rs747607700 0.00001
NM_006393.3(NEBL):c.2547C>T (p.Gly849=) rs180850975 0.00001
NM_006393.3(NEBL):c.2607C>G (p.Leu869=) rs773544548 0.00001
NM_006393.3(NEBL):c.2679C>T (p.Leu893=) rs1437022892 0.00001
NM_006393.3(NEBL):c.2868+19C>T rs41277364 0.00001
NM_006393.3(NEBL):c.2869-15T>A rs746451058 0.00001
NM_006393.3(NEBL):c.2869-16C>T rs192193707 0.00001
NM_006393.3(NEBL):c.2931C>T (p.Asp977=) rs375982678 0.00001
NM_006393.3(NEBL):c.300T>C (p.Ser100=) rs747440079 0.00001
NM_006393.3(NEBL):c.360C>T (p.Leu120=) rs1253834442 0.00001
NM_006393.3(NEBL):c.435C>T (p.Pro145=) rs202130632 0.00001
NM_006393.3(NEBL):c.438T>C (p.Pro146=) rs780880217 0.00001
NM_006393.3(NEBL):c.450T>C (p.His150=) rs1291636433 0.00001
NM_006393.3(NEBL):c.516G>A (p.Thr172=) rs143962290 0.00001
NM_006393.3(NEBL):c.534C>T (p.Asp178=) rs374344424 0.00001
NM_006393.3(NEBL):c.583-15A>G rs561521823 0.00001
NM_006393.3(NEBL):c.591C>T (p.Tyr197=) rs773877708 0.00001
NM_006393.3(NEBL):c.738C>T (p.Tyr246=) rs778455217 0.00001
NM_006393.3(NEBL):c.837A>G (p.Pro279=) rs1211641825 0.00001
NM_006393.3(NEBL):c.903+18C>T rs993846016 0.00001
NM_006393.3(NEBL):c.921C>A (p.Leu307=) rs369291648 0.00001
NM_006393.3(NEBL):c.96T>C (p.Pro32=) rs1210614574 0.00001
NM_006393.3(NEBL):c.972T>C (p.His324=) rs764659096 0.00001
NM_006440.5(TXNRD2):c.103+14G>A rs1158625236 0.00001
NM_006440.5(TXNRD2):c.1065C>T (p.Tyr355=) rs377072227 0.00001
NM_006440.5(TXNRD2):c.1131C>T (p.Leu377=) rs773930137 0.00001
NM_006440.5(TXNRD2):c.1194C>T (p.Thr398=) rs372301925 0.00001
NM_006440.5(TXNRD2):c.1276-10C>T rs755455290 0.00001
NM_006440.5(TXNRD2):c.1276-6C>T rs780563496 0.00001
NM_006440.5(TXNRD2):c.1383G>A (p.Leu461=) rs1242700354 0.00001
NM_006440.5(TXNRD2):c.1401C>T (p.Gly467=) rs886038873 0.00001
NM_006440.5(TXNRD2):c.1445+9C>T rs533782247 0.00001
NM_006440.5(TXNRD2):c.1446-14T>C rs778583264 0.00001
NM_006440.5(TXNRD2):c.1449T>C (p.Cys483=) rs1194743410 0.00001
NM_006440.5(TXNRD2):c.156G>A (p.Leu52=) rs939642675 0.00001
NM_006440.5(TXNRD2):c.172+12G>A rs775588476 0.00001
NM_006440.5(TXNRD2):c.172+20C>A rs760016716 0.00001
NM_006440.5(TXNRD2):c.230-8C>T rs750889743 0.00001
NM_006440.5(TXNRD2):c.264C>T (p.Asn88=) rs575321083 0.00001
NM_006440.5(TXNRD2):c.309G>A (p.Leu103=) rs762625233 0.00001
NM_006440.5(TXNRD2):c.366G>A (p.Pro122=) rs3747068 0.00001
NM_006440.5(TXNRD2):c.36A>G (p.Gly12=) rs1460726198 0.00001
NM_006440.5(TXNRD2):c.449+11T>C rs767028260 0.00001
NM_006440.5(TXNRD2):c.532C>T (p.Leu178=) rs1416081507 0.00001
NM_006440.5(TXNRD2):c.588G>A (p.Thr196=) rs377699868 0.00001
NM_006440.5(TXNRD2):c.672C>T (p.Val224=) rs768078454 0.00001
NM_006440.5(TXNRD2):c.756C>T (p.Pro252=) rs1371426999 0.00001
NM_006440.5(TXNRD2):c.774+16C>G rs938145163 0.00001
NM_006440.5(TXNRD2):c.775-8C>T rs1452168947 0.00001
NM_006440.5(TXNRD2):c.849G>T (p.Arg283=) rs559964753 0.00001
NM_006440.5(TXNRD2):c.861C>T (p.Leu287=) rs746457439 0.00001
NM_006440.5(TXNRD2):c.949+14G>A rs373223971 0.00001
NM_006440.5(TXNRD2):c.950-19C>T rs541350051 0.00001
NM_006440.5(TXNRD2):c.993G>C (p.Gly331=) rs774604998 0.00001
NM_032578.4(MYPN):c.1876G>A (p.Asp626Asn) rs754064567 0.00001
NM_170707.4(LMNA):c.1092C>T (p.Asp364=) rs776589077 0.00001
NM_170707.4(LMNA):c.111G>A (p.Glu37=) rs886038906 0.00001
NM_170707.4(LMNA):c.1138T>C (p.Leu380=) rs1215331296 0.00001
NM_170707.4(LMNA):c.1155G>A (p.Glu385=) rs878855232 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.1381-4G>T rs752880523 0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=) rs751886390 0.00001
NM_170707.4(LMNA):c.1680C>T (p.Asp560=) rs17847249 0.00001
NM_170707.4(LMNA):c.1699-10C>A rs980347866 0.00001
NM_170707.4(LMNA):c.1728C>T (p.Pro576=) rs767783294 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.1773C>T (p.Cys591=) rs397517897 0.00001
NM_170707.4(LMNA):c.1785C>T (p.Ala595=) rs748139390 0.00001
NM_170707.4(LMNA):c.1863G>A (p.Thr621=) rs749999967 0.00001
NM_170707.4(LMNA):c.1890G>A (p.Gly630=) rs770389147 0.00001
NM_170707.4(LMNA):c.240C>T (p.Ala80=) rs780194620 0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=) rs367938270 0.00001
NM_170707.4(LMNA):c.480C>A (p.Gly160=) rs758848135 0.00001
NM_170707.4(LMNA):c.540G>A (p.Lys180=) rs1437725392 0.00001
NM_170707.4(LMNA):c.640-11A>C rs727504932 0.00001
NM_170707.4(LMNA):c.643C>T (p.Leu215=) rs397517905 0.00001
NM_170707.4(LMNA):c.678G>A (p.Leu226=) rs964377328 0.00001
NM_170707.4(LMNA):c.732G>A (p.Ala244=) rs756952925 0.00001
NM_170707.4(LMNA):c.771G>A (p.Glu257=) rs1471649557 0.00001
NM_170707.4(LMNA):c.870G>A (p.Glu290=) rs747275587 0.00001
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr) rs267607574 0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=) rs775429079 0.00001
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu) rs1236045684
NM_001267550.2(TTN):c.53156T>C (p.Val17719Ala) rs564121832
NM_001267550.2(TTN):c.63571C>A (p.Pro21191Thr) rs2049345864
NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn) rs397517670
NM_001267550.2(TTN):c.70274G>C (p.Ser23425Thr) rs980974415
NM_001267550.2(TTN):c.74468C>G (p.Ala24823Gly) rs368071644
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001318895.3(FHL2):c.156+9T>C rs1573341781
NM_001318895.3(FHL2):c.157-9G>A
NM_001318895.3(FHL2):c.243T>C (p.Ala81=)
NM_001318895.3(FHL2):c.270A>G (p.Thr90=)
NM_001318895.3(FHL2):c.285C>T (p.Asn95=) rs374383740
NM_001318895.3(FHL2):c.331+10C>A
NM_001318895.3(FHL2):c.332-11_332-3del
NM_001318895.3(FHL2):c.332-14G>T
NM_001318895.3(FHL2):c.336C>T (p.Thr112=) rs140501334
NM_001318895.3(FHL2):c.351C>T (p.Tyr117=) rs1553415161
NM_001318895.3(FHL2):c.414C>A (p.Thr138=) rs1013627686
NM_001318895.3(FHL2):c.414C>T (p.Thr138=)
NM_001318895.3(FHL2):c.429C>T (p.Pro143=)
NM_001318895.3(FHL2):c.486C>T (p.Cys162=)
NM_001318895.3(FHL2):c.501+16C>T
NM_001318895.3(FHL2):c.501+17C>T rs761990478
NM_001318895.3(FHL2):c.501+8A>T
NM_001318895.3(FHL2):c.502-10G>A
NM_001318895.3(FHL2):c.502-12T>C
NM_001318895.3(FHL2):c.502-13C>G
NM_001318895.3(FHL2):c.502-5T>C rs2104487279
NM_001318895.3(FHL2):c.513G>C (p.Thr171=)
NM_001318895.3(FHL2):c.540C>T (p.Pro180=) rs1210749693
NM_001318895.3(FHL2):c.576G>A (p.Arg192=) rs747844229
NM_001318895.3(FHL2):c.612T>C (p.Asp204=)
NM_001318895.3(FHL2):c.675C>A (p.Thr225=) rs1426474074
NM_001318895.3(FHL2):c.72G>A (p.Glu24=)
NM_001318895.3(FHL2):c.735T>C (p.His245=) rs1573267301
NM_001318895.3(FHL2):c.759G>A (p.Lys253=) rs1680246034
NM_001318895.3(FHL2):c.801G>A (p.Arg267=) rs1573266848
NM_001318895.3(FHL2):c.816C>T (p.Cys272=) rs1573266714
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2]) rs397507458
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_006393.3(NEBL):c.1008+4_1008+5inv
NM_006393.3(NEBL):c.1008+8C>T rs376842299
NM_006393.3(NEBL):c.1009-10T>C rs1842402338
NM_006393.3(NEBL):c.1117-17G>T
NM_006393.3(NEBL):c.1119A>G (p.Lys373=) rs1381516485
NM_006393.3(NEBL):c.1125C>T (p.Tyr375=)
NM_006393.3(NEBL):c.1221G>A (p.Leu407=) rs2131006177
NM_006393.3(NEBL):c.1228-13T>A rs2130972710
NM_006393.3(NEBL):c.1228-4A>G
NM_006393.3(NEBL):c.1228-6_1228-5del
NM_006393.3(NEBL):c.1269A>G (p.Lys423=) rs138932199
NM_006393.3(NEBL):c.1308A>G (p.Arg436=)
NM_006393.3(NEBL):c.1338+19C>T rs2130970836
NM_006393.3(NEBL):c.1434A>G (p.Ala478=) rs2130934253
NM_006393.3(NEBL):c.1450-11A>G rs749398135
NM_006393.3(NEBL):c.1450-18A>T
NM_006393.3(NEBL):c.1450-4G>A rs756328675
NM_006393.3(NEBL):c.1473G>A (p.Glu491=)
NM_006393.3(NEBL):c.1491A>G (p.Lys497=)
NM_006393.3(NEBL):c.150C>T (p.Ser50=) rs1465019438
NM_006393.3(NEBL):c.153+12G>T rs761120845
NM_006393.3(NEBL):c.153+8G>C rs1588971724
NM_006393.3(NEBL):c.1533T>G (p.Ala511=)
NM_006393.3(NEBL):c.1536G>A (p.Lys512=)
NM_006393.3(NEBL):c.154-13T>G
NM_006393.3(NEBL):c.1545C>T (p.Ser515=)
NM_006393.3(NEBL):c.1560+18T>A rs1210297527
NM_006393.3(NEBL):c.1560+18T>C
NM_006393.3(NEBL):c.1560+7C>G
NM_006393.3(NEBL):c.1560+9G>A
NM_006393.3(NEBL):c.1561-12C>A
NM_006393.3(NEBL):c.1561-5T>C
NM_006393.3(NEBL):c.1566A>G (p.Gln522=)
NM_006393.3(NEBL):c.1614G>A (p.Val538=) rs1840384699
NM_006393.3(NEBL):c.1671+18A>G
NM_006393.3(NEBL):c.1671+20G>A
NM_006393.3(NEBL):c.1672-15T>C
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.3(NEBL):c.1777-19T>A
NM_006393.3(NEBL):c.1777-19T>C
NM_006393.3(NEBL):c.1785T>C (p.Tyr595=)
NM_006393.3(NEBL):c.1803T>C (p.Ala601=) rs2130874098
NM_006393.3(NEBL):c.1821T>C (p.Asp607=)
NM_006393.3(NEBL):c.1833C>T (p.Ile611=)
NM_006393.3(NEBL):c.1860T>C (p.Asn620=)
NM_006393.3(NEBL):c.1869+10C>G
NM_006393.3(NEBL):c.1869+11T>C
NM_006393.3(NEBL):c.1869+16C>A rs758601320
NM_006393.3(NEBL):c.1870-19A>G
NM_006393.3(NEBL):c.1870-20T>G
NM_006393.3(NEBL):c.1872G>A (p.Val624=)
NM_006393.3(NEBL):c.1953C>T (p.Asn651=) rs1180920699
NM_006393.3(NEBL):c.1962+10T>A
NM_006393.3(NEBL):c.1963-18T>C rs2130828306
NM_006393.3(NEBL):c.1963-7C>G
NM_006393.3(NEBL):c.1965C>G (p.Leu655=)
NM_006393.3(NEBL):c.198A>C (p.Thr66=)
NM_006393.3(NEBL):c.2055+12_2055+13del
NM_006393.3(NEBL):c.2055+15T>C rs2130827080
NM_006393.3(NEBL):c.2055+7C>A rs368793318
NM_006393.3(NEBL):c.2056-15A>G
NM_006393.3(NEBL):c.2070A>T (p.Gly690=)
NM_006393.3(NEBL):c.2080C>A (p.Arg694=)
NM_006393.3(NEBL):c.2148+19del
NM_006393.3(NEBL):c.2196T>G (p.Thr732=)
NM_006393.3(NEBL):c.21G>A (p.Glu7=) rs1767961581
NM_006393.3(NEBL):c.2241+18T>C
NM_006393.3(NEBL):c.2242-4G>T
NM_006393.3(NEBL):c.2289G>C (p.Leu763=) rs1196603745
NM_006393.3(NEBL):c.2301A>T (p.Thr767=)
NM_006393.3(NEBL):c.2346+18C>A
NM_006393.3(NEBL):c.2347-18T>C rs2130788646
NM_006393.3(NEBL):c.2364T>C (p.Asp788=) rs1838317526
NM_006393.3(NEBL):c.2418A>G (p.Thr806=) rs2130787886
NM_006393.3(NEBL):c.2433G>A (p.Lys811=)
NM_006393.3(NEBL):c.2439C>A (p.Thr813=) rs757884238
NM_006393.3(NEBL):c.2448C>T (p.Val816=)
NM_006393.3(NEBL):c.2475C>T (p.His825=) rs727503334
NM_006393.3(NEBL):c.2511C>T (p.Ile837=)
NM_006393.3(NEBL):c.2518+10C>A rs747607700
NM_006393.3(NEBL):c.2518+13C>T
NM_006393.3(NEBL):c.259-10T>C
NM_006393.3(NEBL):c.259-19C>G
NM_006393.3(NEBL):c.259-6_259-5insT
NM_006393.3(NEBL):c.259-7C>T
NM_006393.3(NEBL):c.2607C>T (p.Leu869=) rs773544548
NM_006393.3(NEBL):c.2611+20T>C
NM_006393.3(NEBL):c.2611+7C>T rs2130768866
NM_006393.3(NEBL):c.2611+8T>G rs2130768850
NM_006393.3(NEBL):c.2643T>C (p.Ser881=)
NM_006393.3(NEBL):c.2682A>G (p.Gly894=) rs1334949712
NM_006393.3(NEBL):c.2814C>T (p.Tyr938=)
NM_006393.3(NEBL):c.2823G>A (p.Gln941=)
NM_006393.3(NEBL):c.2847A>T (p.Ser949=) rs1060504994
NM_006393.3(NEBL):c.2868+11A>C rs2131618868
NM_006393.3(NEBL):c.2869-9C>T
NM_006393.3(NEBL):c.2895C>T (p.Tyr965=) rs2131613989
NM_006393.3(NEBL):c.2934C>T (p.Gly978=)
NM_006393.3(NEBL):c.2943C>A (p.Ile981=)
NM_006393.3(NEBL):c.2949C>T (p.Asn983=)
NM_006393.3(NEBL):c.2979C>T (p.Tyr993=)
NM_006393.3(NEBL):c.2985A>G (p.Thr995=) rs534621300
NM_006393.3(NEBL):c.3036T>C (p.Phe1012=)
NM_006393.3(NEBL):c.312G>T (p.Arg104=)
NM_006393.3(NEBL):c.327T>C (p.Ile109=)
NM_006393.3(NEBL):c.369+12C>T
NM_006393.3(NEBL):c.370-10T>C
NM_006393.3(NEBL):c.370-19A>C
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu) rs139809958
NM_006393.3(NEBL):c.390T>C (p.His130=) rs1462163062
NM_006393.3(NEBL):c.405A>C (p.Gly135=) rs1588924846
NM_006393.3(NEBL):c.408C>T (p.Phe136=)
NM_006393.3(NEBL):c.480+10C>A rs377230358
NM_006393.3(NEBL):c.480+10C>T rs377230358
NM_006393.3(NEBL):c.480+9G>A rs2131315618
NM_006393.3(NEBL):c.481-10C>T
NM_006393.3(NEBL):c.481-18A>T
NM_006393.3(NEBL):c.481-6G>A rs1286250524
NM_006393.3(NEBL):c.528A>G (p.Glu176=)
NM_006393.3(NEBL):c.540A>G (p.Pro180=) rs2131238828
NM_006393.3(NEBL):c.558C>A (p.Thr186=) rs1844724636
NM_006393.3(NEBL):c.582+14C>T
NM_006393.3(NEBL):c.582+15T>C
NM_006393.3(NEBL):c.685-11T>C
NM_006393.3(NEBL):c.685-15T>G
NM_006393.3(NEBL):c.711T>C (p.Asn237=) rs2131147146
NM_006393.3(NEBL):c.798+12T>A
NM_006393.3(NEBL):c.798+14C>T rs968358305
NM_006393.3(NEBL):c.798+17A>G rs1021328811
NM_006393.3(NEBL):c.799-12T>C
NM_006393.3(NEBL):c.799-15A>C
NM_006393.3(NEBL):c.81+16_81+17del rs2131413510
NM_006393.3(NEBL):c.81+18_81+23del
NM_006393.3(NEBL):c.81+20C>T
NM_006393.3(NEBL):c.82-15T>C rs2131413042
NM_006393.3(NEBL):c.822A>G (p.Gln274=)
NM_006393.3(NEBL):c.870C>T (p.Asp290=) rs1843296570
NM_006393.3(NEBL):c.903+13T>A rs780937421
NM_006393.3(NEBL):c.903+18C>A
NM_006440.5(TXNRD2):c.1002T>C (p.Thr334=) rs1938875775
NM_006440.5(TXNRD2):c.1029G>A (p.Val343=) rs758006460
NM_006440.5(TXNRD2):c.103+13C>G
NM_006440.5(TXNRD2):c.103+17G>T
NM_006440.5(TXNRD2):c.1032C>T (p.Asp344=) rs759106464
NM_006440.5(TXNRD2):c.104-10del
NM_006440.5(TXNRD2):c.1059C>T (p.His353=) rs2145939709
NM_006440.5(TXNRD2):c.1086+11C>A
NM_006440.5(TXNRD2):c.1086+12_1086+13delinsTC rs2145939546
NM_006440.5(TXNRD2):c.1086+16C>T
NM_006440.5(TXNRD2):c.1086+19_1086+20insGGCA rs918796709
NM_006440.5(TXNRD2):c.1087-14dup
NM_006440.5(TXNRD2):c.1087-15T>C
NM_006440.5(TXNRD2):c.1087-4C>T rs942304915
NM_006440.5(TXNRD2):c.1107C>A (p.Pro369=) rs371533709
NM_006440.5(TXNRD2):c.1107C>T (p.Pro369=)
NM_006440.5(TXNRD2):c.1109_1110delinsCG (p.Ile370Thr) rs2145933207
NM_006440.5(TXNRD2):c.1122C>G (p.Ala374=)
NM_006440.5(TXNRD2):c.1173C>T (p.Asp391=)
NM_006440.5(TXNRD2):c.1188C>T (p.Pro396=)
NM_006440.5(TXNRD2):c.1191G>A (p.Thr397=) rs1292463748
NM_006440.5(TXNRD2):c.1254C>T (p.Arg418=) rs1188379074
NM_006440.5(TXNRD2):c.1257C>T (p.His419=)
NM_006440.5(TXNRD2):c.1266G>A (p.Glu422=) rs1569070557
NM_006440.5(TXNRD2):c.1276-11C>A
NM_006440.5(TXNRD2):c.1276-16_1276-14del rs543441133
NM_006440.5(TXNRD2):c.1284C>T (p.His428=)
NM_006440.5(TXNRD2):c.1302G>A (p.Leu434=)
NM_006440.5(TXNRD2):c.1311G>A (p.Thr437=)
NM_006440.5(TXNRD2):c.1332C>A (p.Ser444=) rs1938606312
NM_006440.5(TXNRD2):c.1347+13G>A
NM_006440.5(TXNRD2):c.1348-13G>A
NM_006440.5(TXNRD2):c.1371A>G (p.Pro457=)
NM_006440.5(TXNRD2):c.1375C>T (p.Leu459=) rs2145927277
NM_006440.5(TXNRD2):c.1381C>T (p.Leu461=) rs2145927256
NM_006440.5(TXNRD2):c.1407C>A (p.Asn469Lys) rs200063300
NM_006440.5(TXNRD2):c.1407C>T (p.Asn469=) rs200063300
NM_006440.5(TXNRD2):c.1422T>G (p.Thr474=) rs2145927131
NM_006440.5(TXNRD2):c.1435C>T (p.Leu479=)
NM_006440.5(TXNRD2):c.1445+10G>A
NM_006440.5(TXNRD2):c.1445+18C>G rs41431147
NM_006440.5(TXNRD2):c.1446-15A>G
NM_006440.5(TXNRD2):c.1446-7T>C
NM_006440.5(TXNRD2):c.1446-8A>G
NM_006440.5(TXNRD2):c.1515C>T (p.Val505=)
NM_006440.5(TXNRD2):c.1560A>C (p.Thr520=) rs763666305
NM_006440.5(TXNRD2):c.1572G>A (p.Gly524=)
NM_006440.5(TXNRD2):c.165C>T (p.Ala55=)
NM_006440.5(TXNRD2):c.172+11T>G
NM_006440.5(TXNRD2):c.172+14A>G
NM_006440.5(TXNRD2):c.172+20C>T
NM_006440.5(TXNRD2):c.173-14C>T
NM_006440.5(TXNRD2):c.173-7C>A
NM_006440.5(TXNRD2):c.198C>T (p.Ala66=)
NM_006440.5(TXNRD2):c.21G>A (p.Ala7=) rs2146120385
NM_006440.5(TXNRD2):c.229+13C>G
NM_006440.5(TXNRD2):c.229+7A>T
NM_006440.5(TXNRD2):c.249C>T (p.Gly83=)
NM_006440.5(TXNRD2):c.255C>T (p.Thr85=)
NM_006440.5(TXNRD2):c.258C>T (p.Cys86=)
NM_006440.5(TXNRD2):c.279C>T (p.Pro93=)
NM_006440.5(TXNRD2):c.300G>A (p.Ala100=)
NM_006440.5(TXNRD2):c.366G>T (p.Pro122=) rs3747068
NM_006440.5(TXNRD2):c.374+16C>T rs141500917
NM_006440.5(TXNRD2):c.374+20G>T rs1375808016
NM_006440.5(TXNRD2):c.375-10A>T
NM_006440.5(TXNRD2):c.375-13C>T
NM_006440.5(TXNRD2):c.375-14T>G rs753065216
NM_006440.5(TXNRD2):c.375-7T>G rs1060501405
NM_006440.5(TXNRD2):c.449+13T>C
NM_006440.5(TXNRD2):c.449+14C>G
NM_006440.5(TXNRD2):c.449+7_449+12del
NM_006440.5(TXNRD2):c.486T>C (p.Val162=)
NM_006440.5(TXNRD2):c.529-8C>A rs754998172
NM_006440.5(TXNRD2):c.564T>C (p.Thr188=)
NM_006440.5(TXNRD2):c.591+16G>A
NM_006440.5(TXNRD2):c.591+17C>T
NM_006440.5(TXNRD2):c.591+18A>G
NM_006440.5(TXNRD2):c.591+7G>T rs1166950452
NM_006440.5(TXNRD2):c.662+10G>T rs2146024963
NM_006440.5(TXNRD2):c.662+14G>T
NM_006440.5(TXNRD2):c.662+9T>G rs1209514919
NM_006440.5(TXNRD2):c.663-10T>C rs1383048604
NM_006440.5(TXNRD2):c.663-13G>C
NM_006440.5(TXNRD2):c.663-5A>G
NM_006440.5(TXNRD2):c.663-7C>T rs753045205
NM_006440.5(TXNRD2):c.682+13dup
NM_006440.5(TXNRD2):c.682+16G>A rs377147143
NM_006440.5(TXNRD2):c.682+9T>G rs2145979515
NM_006440.5(TXNRD2):c.683-16A>C rs2145976926
NM_006440.5(TXNRD2):c.6G>C (p.Ala2=)
NM_006440.5(TXNRD2):c.6G>T (p.Ala2=) rs1601501125
NM_006440.5(TXNRD2):c.702T>C (p.Ala234=)
NM_006440.5(TXNRD2):c.72C>T (p.Gly24=)
NM_006440.5(TXNRD2):c.774+16C>T
NM_006440.5(TXNRD2):c.783C>T (p.Ser261=) rs2145970463
NM_006440.5(TXNRD2):c.819C>T (p.Thr273=) rs2145970318
NM_006440.5(TXNRD2):c.834C>A (p.Gly278=) rs371075332
NM_006440.5(TXNRD2):c.834C>T (p.Gly278=)
NM_006440.5(TXNRD2):c.840C>A (p.Ala280=) rs1416399071
NM_006440.5(TXNRD2):c.84C>T (p.Gly28=)
NM_006440.5(TXNRD2):c.858G>A (p.Arg286=) rs201503021
NM_006440.5(TXNRD2):c.870C>T (p.Gly290=)
NM_006440.5(TXNRD2):c.903C>T (p.Thr301=) rs35695986
NM_006440.5(TXNRD2):c.939G>A (p.Leu313=) rs1060504228
NM_006440.5(TXNRD2):c.949+10C>A
NM_006440.5(TXNRD2):c.949+14G>T
NM_006440.5(TXNRD2):c.954A>G (p.Arg318=)
NM_006440.5(TXNRD2):c.957C>T (p.Val319=)
NM_006440.5(TXNRD2):c.987G>A (p.Lys329=) rs1454322676
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) rs200342284
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly) rs397517249
NM_020297.4(ABCC9):c.4450-5del rs4148680
NM_170707.4(LMNA):c.1027C>A (p.Arg343=) rs749784223
NM_170707.4(LMNA):c.1119C>T (p.Ile373=)
NM_170707.4(LMNA):c.1158-3C>T rs727503136
NM_170707.4(LMNA):c.1158-6C>T rs1375538892
NM_170707.4(LMNA):c.1158-8C>T
NM_170707.4(LMNA):c.1218A>G (p.Ser406=) rs1651612863
NM_170707.4(LMNA):c.1221C>T (p.Ser407=)
NM_170707.4(LMNA):c.1239C>A (p.Gly413=)
NM_170707.4(LMNA):c.1272T>C (p.Thr424=)
NM_170707.4(LMNA):c.1323C>T (p.Ala441=) rs140194535
NM_170707.4(LMNA):c.1381-15C>T
NM_170707.4(LMNA):c.1413C>G (p.Arg471=) rs1572365626
NM_170707.4(LMNA):c.1425T>C (p.Asp475=)
NM_170707.4(LMNA):c.1431C>T (p.Pro477=)
NM_170707.4(LMNA):c.1435C>T (p.Leu479=)
NM_170707.4(LMNA):c.1524C>A (p.Pro508=)
NM_170707.4(LMNA):c.1536G>A (p.Leu512=) rs1208359364
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1599C>T (p.Ser533=) rs886043346
NM_170707.4(LMNA):c.1609-4C>T rs1553266259
NM_170707.4(LMNA):c.1659C>T (p.Asp553=) rs748768783
NM_170707.4(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_170707.4(LMNA):c.1854C>T (p.Ser618=)
NM_170707.4(LMNA):c.1890G>C (p.Gly630=) rs770389147
NM_170707.4(LMNA):c.189C>T (p.Ile63=)
NM_170707.4(LMNA):c.207G>A (p.Val69=)
NM_170707.4(LMNA):c.249C>T (p.Ala83=) rs746916710
NM_170707.4(LMNA):c.273C>A (p.Thr91=)
NM_170707.4(LMNA):c.306G>A (p.Leu102=)
NM_170707.4(LMNA):c.346C>T (p.Leu116=) rs876657491
NM_170707.4(LMNA):c.39G>A (p.Gly13=)
NM_170707.4(LMNA):c.486G>A (p.Leu162=) rs727503135
NM_170707.4(LMNA):c.528A>T (p.Leu176=) rs1026599240
NM_170707.4(LMNA):c.562C>T (p.Leu188=)
NM_170707.4(LMNA):c.564G>A (p.Leu188=)
NM_170707.4(LMNA):c.591G>A (p.Leu197=) rs886044049
NM_170707.4(LMNA):c.615C>T (p.Asp205=)
NM_170707.4(LMNA):c.640-7C>G
NM_170707.4(LMNA):c.640-7del
NM_170707.4(LMNA):c.729T>C (p.Asp243=) rs753243743
NM_170707.4(LMNA):c.765G>A (p.Gln255=) rs1651412868
NM_170707.4(LMNA):c.777T>C (p.Tyr259=)
NM_170707.4(LMNA):c.807C>T (p.Ala269=)
NM_170707.4(LMNA):c.822C>G (p.Ala274=) rs1572360747
NM_170707.4(LMNA):c.897C>T (p.Ile299=) rs762718963
NM_170707.4(LMNA):c.927C>A (p.Leu309=) rs752558753
NM_170707.4(LMNA):c.927C>T (p.Leu309=) rs752558753
NM_170707.4(LMNA):c.937-15C>T
NM_170707.4(LMNA):c.937-6dup
NM_170707.4(LMNA):c.937-7C>T rs267607681

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