ClinVar Miner

List of variants in gene ACTN2 reported by Invitae

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1085
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.351T>C (p.Ile117=) rs1341864 0.99334
NM_001103.4(ACTN2):c.378C>T (p.Asn126=) rs1341863 0.93032
NM_001103.4(ACTN2):c.877-8C>G rs2288601 0.77958
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=) rs12063382 0.16345
NM_001103.4(ACTN2):c.378= (p.Asn126=) rs1341863 0.06968
NM_001103.4(ACTN2):c.1296G>A (p.Ala432=) rs35956798 0.04366
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03463
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001103.4(ACTN2):c.705G>C (p.Val235=) rs2288599 0.00749
NM_001103.4(ACTN2):c.351= (p.Ile117=) rs1341864 0.00666
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_001103.4(ACTN2):c.870G>A (p.Ala290=) rs116464082 0.00506
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_001103.4(ACTN2):c.1932C>A (p.Ala644=) rs144680712 0.00314
NM_001103.4(ACTN2):c.2368-17T>C rs78961574 0.00255
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_001103.4(ACTN2):c.1515+15C>T rs368107695 0.00147
NM_001103.4(ACTN2):c.441G>A (p.Ser147=) rs150182164 0.00107
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001103.4(ACTN2):c.126+14C>T rs373269478 0.00098
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001103.4(ACTN2):c.1657-16T>C rs148194175 0.00095
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803 0.00094
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001103.4(ACTN2):c.546T>C (p.Asp182=) rs34263845 0.00066
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00051
NM_001103.4(ACTN2):c.1519A>G (p.Met507Val) rs144553482 0.00048
NM_001103.4(ACTN2):c.2367+8A>G rs112714025 0.00048
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_001103.4(ACTN2):c.1975-12C>T rs371352710 0.00036
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837 0.00026
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu) rs747400815 0.00021
NM_001103.4(ACTN2):c.1293G>A (p.Ser431=) rs144819985 0.00019
NM_001103.4(ACTN2):c.2677G>A (p.Asp893Asn) rs142646143 0.00018
NM_001103.4(ACTN2):c.186C>T (p.Ile62=) rs34403480 0.00016
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_001103.4(ACTN2):c.1983C>T (p.Ala661=) rs372137571 0.00014
NM_001103.4(ACTN2):c.2367+5G>A rs200469353 0.00014
NM_001103.4(ACTN2):c.536+18C>T rs372436409 0.00014
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005 0.00012
NM_001103.4(ACTN2):c.1714C>T (p.Arg572Trp) rs142142718 0.00011
NM_001103.4(ACTN2):c.1974+10C>T rs368354944 0.00011
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys) rs148189507 0.00010
NM_001103.4(ACTN2):c.2148G>A (p.Thr716=) rs191631773 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886 0.00009
NM_001103.4(ACTN2):c.1433A>T (p.Asn478Ile) rs753244692 0.00009
NM_001103.4(ACTN2):c.165C>T (p.Ala55=) rs193922634 0.00009
NM_001103.4(ACTN2):c.2540C>T (p.Ala847Val) rs370569935 0.00009
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050 0.00009
NM_001103.4(ACTN2):c.154C>T (p.Leu52=) rs199910162 0.00008
NM_001103.4(ACTN2):c.2541G>A (p.Ala847=) rs374278766 0.00008
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg) rs148628141 0.00007
NM_001103.4(ACTN2):c.899C>T (p.Thr300Met) rs144025957 0.00007
NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu) rs146568303 0.00007
NM_001103.4(ACTN2):c.1288G>C (p.Glu430Gln) rs370865082 0.00006
NM_001103.4(ACTN2):c.1698C>T (p.Pro566=) rs148961019 0.00006
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=) rs137890030 0.00006
NM_001103.4(ACTN2):c.2323C>T (p.His775Tyr) rs370677725 0.00006
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384 0.00006
NM_001103.4(ACTN2):c.354C>T (p.Gly118=) rs539250948 0.00006
NM_001103.4(ACTN2):c.616-14T>C rs750480942 0.00006
NM_001103.4(ACTN2):c.744C>T (p.Tyr248=) rs749565466 0.00006
NM_001103.4(ACTN2):c.783+17C>T rs780669106 0.00006
NM_001103.4(ACTN2):c.947T>C (p.Met316Thr) rs370757762 0.00006
NM_001103.4(ACTN2):c.969C>T (p.Phe323=) rs200247458 0.00006
NM_001103.4(ACTN2):c.127-3C>A rs368775036 0.00005
NM_001103.4(ACTN2):c.1324C>T (p.Arg442Trp) rs769073315 0.00005
NM_001103.4(ACTN2):c.1476A>T (p.Arg492=) rs397516569 0.00005
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=) rs201179281 0.00005
NM_001103.4(ACTN2):c.2278G>A (p.Ala760Thr) rs757134452 0.00005
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335 0.00005
NM_001103.4(ACTN2):c.2527-19C>T rs765325935 0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_001103.4(ACTN2):c.517A>G (p.Ile173Val) rs749860792 0.00005
NM_001103.4(ACTN2):c.537-14C>T rs577211083 0.00005
NM_001103.4(ACTN2):c.720C>T (p.Pro240=) rs375935508 0.00005
NM_001103.4(ACTN2):c.1307A>C (p.Glu436Ala) rs199955427 0.00004
NM_001103.4(ACTN2):c.1646A>T (p.Glu549Val) rs149794430 0.00004
NM_001103.4(ACTN2):c.1773C>G (p.Ile591Met) rs771302220 0.00004
NM_001103.4(ACTN2):c.1862G>A (p.Arg621His) rs368040932 0.00004
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln) rs727505112 0.00004
NM_001103.4(ACTN2):c.2052C>T (p.Asn684=) rs202135204 0.00004
NM_001103.4(ACTN2):c.2069A>G (p.Asn690Ser) rs552938924 0.00004
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=) rs141884271 0.00004
NM_001103.4(ACTN2):c.2376C>T (p.Ala792=) rs369320952 0.00004
NM_001103.4(ACTN2):c.2412C>T (p.Asn804=) rs201700660 0.00004
NM_001103.4(ACTN2):c.2445C>T (p.Ile815=) rs397516575 0.00004
NM_001103.4(ACTN2):c.2446G>A (p.Asp816Asn) rs1057522840 0.00004
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001103.4(ACTN2):c.2658C>T (p.Ser886=) rs143297401 0.00004
NM_001103.4(ACTN2):c.362-8A>C rs780432522 0.00004
NM_001103.4(ACTN2):c.48G>A (p.Glu16=) rs397516580 0.00004
NM_001103.4(ACTN2):c.642G>A (p.Leu214=) rs558330657 0.00004
NM_001103.4(ACTN2):c.777G>A (p.Ala259=) rs764583678 0.00004
NM_001103.4(ACTN2):c.795G>A (p.Ala265=) rs757253639 0.00004
NM_001103.4(ACTN2):c.1107G>A (p.Ser369=) rs369218950 0.00003
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg) rs376144003 0.00003
NM_001103.4(ACTN2):c.1180C>T (p.Arg394Trp) rs559395092 0.00003
NM_001103.4(ACTN2):c.1287C>T (p.Tyr429=) rs764881077 0.00003
NM_001103.4(ACTN2):c.1295C>T (p.Ala432Val) rs767291633 0.00003
NM_001103.4(ACTN2):c.1395G>A (p.Ala465=) rs750674913 0.00003
NM_001103.4(ACTN2):c.1407-9T>C rs1019401703 0.00003
NM_001103.4(ACTN2):c.1445G>A (p.Arg482Gln) rs778023612 0.00003
NM_001103.4(ACTN2):c.1507G>T (p.Ala503Ser) rs1057460296 0.00003
NM_001103.4(ACTN2):c.1541T>C (p.Ile514Thr) rs371954663 0.00003
NM_001103.4(ACTN2):c.1589A>G (p.Asn530Ser) rs1384783399 0.00003
NM_001103.4(ACTN2):c.1658G>C (p.Ser553Thr) rs778767257 0.00003
NM_001103.4(ACTN2):c.1671G>A (p.Ala557=) rs772691130 0.00003
NM_001103.4(ACTN2):c.18C>T (p.Pro6=) rs368367224 0.00003
NM_001103.4(ACTN2):c.1909C>T (p.Arg637Cys) rs570051117 0.00003
NM_001103.4(ACTN2):c.1919G>A (p.Arg640His) rs772909106 0.00003
NM_001103.4(ACTN2):c.1972G>C (p.Glu658Gln) rs374135486 0.00003
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739 0.00003
NM_001103.4(ACTN2):c.2003C>G (p.Thr668Arg) rs397516572 0.00003
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415 0.00003
NM_001103.4(ACTN2):c.2100G>A (p.Gln700=) rs763184766 0.00003
NM_001103.4(ACTN2):c.2162G>A (p.Arg721His) rs546431200 0.00003
NM_001103.4(ACTN2):c.2179C>G (p.Leu727Val) rs767078596 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001103.4(ACTN2):c.241+4G>A rs561826525 0.00003
NM_001103.4(ACTN2):c.2425G>A (p.Val809Ile) rs551605384 0.00003
NM_001103.4(ACTN2):c.2507G>A (p.Arg836Gln) rs764315978 0.00003
NM_001103.4(ACTN2):c.2526+8T>C rs760086675 0.00003
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys) rs141563497 0.00003
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888 0.00003
NM_001103.4(ACTN2):c.2560C>T (p.Leu854=) rs370992948 0.00003
NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) rs375588211 0.00003
NM_001103.4(ACTN2):c.2668G>A (p.Gly890Arg) rs536297856 0.00003
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=) rs397516578 0.00003
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr) rs770368711 0.00003
NM_001103.4(ACTN2):c.541A>G (p.Lys181Glu) rs779350391 0.00003
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe) rs371930065 0.00003
NM_001103.4(ACTN2):c.645C>T (p.Ala215=) rs781683654 0.00003
NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln) rs774046373 0.00003
NM_001103.4(ACTN2):c.1046A>T (p.Gln349Leu) rs376335356 0.00002
NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp) rs1150181 0.00002
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val) rs368409665 0.00002
NM_001103.4(ACTN2):c.1108-3C>T rs372488913 0.00002
NM_001103.4(ACTN2):c.1108-5C>T rs369956166 0.00002
NM_001103.4(ACTN2):c.1117G>A (p.Gly373Ser) rs769980647 0.00002
NM_001103.4(ACTN2):c.1155C>T (p.Tyr385=) rs532155333 0.00002
NM_001103.4(ACTN2):c.1172A>G (p.Asn391Ser) rs547711260 0.00002
NM_001103.4(ACTN2):c.1256-8C>T rs747638397 0.00002
NM_001103.4(ACTN2):c.127-20G>A rs545717349 0.00002
NM_001103.4(ACTN2):c.1313G>A (p.Arg438Gln) rs747534491 0.00002
NM_001103.4(ACTN2):c.1372G>A (p.Val458Met) rs895000018 0.00002
NM_001103.4(ACTN2):c.1425C>T (p.Asp475=) rs148223734 0.00002
NM_001103.4(ACTN2):c.1515+17A>C rs774622952 0.00002
NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu) rs200969588 0.00002
NM_001103.4(ACTN2):c.1657-19A>G rs1182422103 0.00002
NM_001103.4(ACTN2):c.1708G>A (p.Gly570Arg) rs373132971 0.00002
NM_001103.4(ACTN2):c.1731C>T (p.Ala577=) rs750405065 0.00002
NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp) rs397516571 0.00002
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys) rs769453411 0.00002
NM_001103.4(ACTN2):c.1974+11G>A rs567601447 0.00002
NM_001103.4(ACTN2):c.1980T>A (p.Ile660=) rs1324637027 0.00002
NM_001103.4(ACTN2):c.2039A>G (p.Gln680Arg) rs756567639 0.00002
NM_001103.4(ACTN2):c.2108A>T (p.Gln703Leu) rs370862426 0.00002
NM_001103.4(ACTN2):c.2138C>T (p.Thr713Met) rs764538888 0.00002
NM_001103.4(ACTN2):c.2154+4C>T rs1342624709 0.00002
NM_001103.4(ACTN2):c.2154+5G>A rs767655336 0.00002
NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met) rs765747662 0.00002
NM_001103.4(ACTN2):c.2356G>A (p.Gly786Ser) rs1012982310 0.00002
NM_001103.4(ACTN2):c.2377G>A (p.Glu793Lys) rs145450474 0.00002
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574 0.00002
NM_001103.4(ACTN2):c.2496C>T (p.Ile832=) rs189019392 0.00002
NM_001103.4(ACTN2):c.2527-18G>A rs1486613146 0.00002
NM_001103.4(ACTN2):c.2643C>T (p.Tyr881=) rs727505177 0.00002
NM_001103.4(ACTN2):c.265C>T (p.Arg89Trp) rs369629689 0.00002
NM_001103.4(ACTN2):c.419G>A (p.Arg140His) rs370689695 0.00002
NM_001103.4(ACTN2):c.536+6C>G rs771398006 0.00002
NM_001103.4(ACTN2):c.537-11C>T rs367744285 0.00002
NM_001103.4(ACTN2):c.59T>C (p.Met20Thr) rs776456711 0.00002
NM_001103.4(ACTN2):c.646A>G (p.Met216Val) rs749019847 0.00002
NM_001103.4(ACTN2):c.66G>A (p.Gln22=) rs761544833 0.00002
NM_001103.4(ACTN2):c.6C>A (p.Asn2Lys) rs755508640 0.00002
NM_001103.4(ACTN2):c.703G>A (p.Val235Met) rs754929573 0.00002
NM_001103.4(ACTN2):c.745G>A (p.Val249Ile) rs771260546 0.00002
NM_001103.4(ACTN2):c.762C>T (p.His254=) rs397516584 0.00002
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser) rs1337069615 0.00002
NM_001103.4(ACTN2):c.771G>A (p.Ala257=) rs201545916 0.00002
NM_001103.4(ACTN2):c.892C>T (p.Arg298Cys) rs1060503683 0.00002
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys) rs779109533 0.00002
NM_001103.4(ACTN2):c.920G>A (p.Arg307Gln) rs112882610 0.00002
NM_001103.4(ACTN2):c.979C>T (p.Arg327Cys) rs769485633 0.00002
NM_001103.4(ACTN2):c.1031A>G (p.Asn344Ser) rs886046206 0.00001
NM_001103.4(ACTN2):c.1058G>A (p.Arg353Gln) rs780552939 0.00001
NM_001103.4(ACTN2):c.1059G>A (p.Arg353=) rs1441845374 0.00001
NM_001103.4(ACTN2):c.1089C>T (p.Ser363=) rs397516562 0.00001
NM_001103.4(ACTN2):c.1090G>A (p.Glu364Lys) rs572523462 0.00001
NM_001103.4(ACTN2):c.1099A>G (p.Met367Val) rs771923322 0.00001
NM_001103.4(ACTN2):c.1107+14G>A rs372703561 0.00001
NM_001103.4(ACTN2):c.1131G>A (p.Arg377=) rs374831016 0.00001
NM_001103.4(ACTN2):c.113A>G (p.Lys38Arg) rs376510300 0.00001
NM_001103.4(ACTN2):c.1145A>G (p.Glu382Gly) rs766953315 0.00001
NM_001103.4(ACTN2):c.1154A>T (p.Tyr385Phe) rs929710704 0.00001
NM_001103.4(ACTN2):c.1181G>A (p.Arg394Gln) rs758358941 0.00001
NM_001103.4(ACTN2):c.1193G>A (p.Arg398His) rs752906680 0.00001
NM_001103.4(ACTN2):c.1195T>C (p.Leu399=) rs1486800362 0.00001
NM_001103.4(ACTN2):c.1228G>T (p.Ala410Ser) rs1258500915 0.00001
NM_001103.4(ACTN2):c.1236G>A (p.Thr412=) rs143566058 0.00001
NM_001103.4(ACTN2):c.1239C>G (p.His413Gln) rs771579640 0.00001
NM_001103.4(ACTN2):c.1256-12C>T rs749509401 0.00001
NM_001103.4(ACTN2):c.1256-13A>T rs778085872 0.00001
NM_001103.4(ACTN2):c.1256-19C>T rs1463283552 0.00001
NM_001103.4(ACTN2):c.126+15G>A rs745563404 0.00001
NM_001103.4(ACTN2):c.126+16C>T rs1475029814 0.00001
NM_001103.4(ACTN2):c.1263G>A (p.Glu421=) rs572642643 0.00001
NM_001103.4(ACTN2):c.127-8C>G rs768145349 0.00001
NM_001103.4(ACTN2):c.1284T>C (p.Asp428=) rs769334150 0.00001
NM_001103.4(ACTN2):c.1290G>A (p.Glu430=) rs765911535 0.00001
NM_001103.4(ACTN2):c.1299G>A (p.Ser433=) rs1161300633 0.00001
NM_001103.4(ACTN2):c.12A>G (p.Ile4Met) rs781720338 0.00001
NM_001103.4(ACTN2):c.1305A>G (p.Thr435=) rs12043223 0.00001
NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp) rs563171274 0.00001
NM_001103.4(ACTN2):c.1325G>A (p.Arg442Gln) rs776947613 0.00001
NM_001103.4(ACTN2):c.1332C>T (p.His444=) rs373709019 0.00001
NM_001103.4(ACTN2):c.1333G>A (p.Glu445Lys) rs773942709 0.00001
NM_001103.4(ACTN2):c.1337C>T (p.Ala446Val) rs767041933 0.00001
NM_001103.4(ACTN2):c.1338G>A (p.Ala446=) rs397516566 0.00001
NM_001103.4(ACTN2):c.1342G>A (p.Glu448Lys) rs764031568 0.00001
NM_001103.4(ACTN2):c.1347C>T (p.Ser449=) rs796733553 0.00001
NM_001103.4(ACTN2):c.1358C>G (p.Ala453Gly) rs566860712 0.00001
NM_001103.4(ACTN2):c.1359G>A (p.Ala453=) rs780174131 0.00001
NM_001103.4(ACTN2):c.1369C>T (p.Arg457Cys) rs769126818 0.00001
NM_001103.4(ACTN2):c.136G>T (p.Ala46Ser) rs1311487466 0.00001
NM_001103.4(ACTN2):c.1384G>T (p.Ala462Ser) rs376923220 0.00001
NM_001103.4(ACTN2):c.1392C>T (p.Ile464=) rs764086805 0.00001
NM_001103.4(ACTN2):c.1393G>A (p.Ala465Thr) rs371434667 0.00001
NM_001103.4(ACTN2):c.1406+20G>A rs748640670 0.00001
NM_001103.4(ACTN2):c.1418A>G (p.Tyr473Cys) rs957128342 0.00001
NM_001103.4(ACTN2):c.1422C>T (p.His474=) rs1282303942 0.00001
NM_001103.4(ACTN2):c.1439A>G (p.Asn480Ser) rs1197619498 0.00001
NM_001103.4(ACTN2):c.1467G>A (p.Gln489=) rs1455939600 0.00001
NM_001103.4(ACTN2):c.1475G>A (p.Arg492Gln) rs779702876 0.00001
NM_001103.4(ACTN2):c.1511T>C (p.Leu504Pro) rs1659281594 0.00001
NM_001103.4(ACTN2):c.1538C>A (p.Thr513Asn) rs749178520 0.00001
NM_001103.4(ACTN2):c.1549C>T (p.Leu517Phe) rs759778745 0.00001
NM_001103.4(ACTN2):c.1552C>T (p.His518Tyr) rs573836993 0.00001
NM_001103.4(ACTN2):c.1586A>G (p.Asn529Ser) rs200143657 0.00001
NM_001103.4(ACTN2):c.1600G>A (p.Gly534Ser) rs376596726 0.00001
NM_001103.4(ACTN2):c.1609G>A (p.Glu537Lys) rs1401807611 0.00001
NM_001103.4(ACTN2):c.1614T>C (p.Asp538=) rs368615266 0.00001
NM_001103.4(ACTN2):c.1624A>G (p.Met542Val) rs770807444 0.00001
NM_001103.4(ACTN2):c.1625T>G (p.Met542Arg) rs778713804 0.00001
NM_001103.4(ACTN2):c.1626G>A (p.Met542Ile) rs1193302872 0.00001
NM_001103.4(ACTN2):c.1632T>C (p.Ile544=) rs372229326 0.00001
NM_001103.4(ACTN2):c.1656+10C>A rs979678081 0.00001
NM_001103.4(ACTN2):c.1656+11C>T rs760799261 0.00001
NM_001103.4(ACTN2):c.1656+2_1656+8dup rs1255329746 0.00001
NM_001103.4(ACTN2):c.1657-9C>T rs777367297 0.00001
NM_001103.4(ACTN2):c.166G>A (p.Gly56Ser) rs758034866 0.00001
NM_001103.4(ACTN2):c.1691C>T (p.Thr564Met) rs876661341 0.00001
NM_001103.4(ACTN2):c.1693C>T (p.Leu565=) rs546293678 0.00001
NM_001103.4(ACTN2):c.1703C>G (p.Ala568Gly) rs776805533 0.00001
NM_001103.4(ACTN2):c.1707C>T (p.Asp569=) rs773915011 0.00001
NM_001103.4(ACTN2):c.1715G>A (p.Arg572Gln) rs141434302 0.00001
NM_001103.4(ACTN2):c.1726A>G (p.Met576Val) rs764719024 0.00001
NM_001103.4(ACTN2):c.1789A>C (p.Asn597His) rs1262131275 0.00001
NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn) rs794728968 0.00001
NM_001103.4(ACTN2):c.1803T>C (p.Thr601=) rs1289087755 0.00001
NM_001103.4(ACTN2):c.1804G>A (p.Val602Ile) rs377356540 0.00001
NM_001103.4(ACTN2):c.1809C>T (p.Thr603=) rs1240708380 0.00001
NM_001103.4(ACTN2):c.1812G>A (p.Met604Ile) rs751385957 0.00001
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004 0.00001
NM_001103.4(ACTN2):c.1840-10G>A rs1287403917 0.00001
NM_001103.4(ACTN2):c.1852G>A (p.Val618Met) rs1178612038 0.00001
NM_001103.4(ACTN2):c.1857C>A (p.Pro619=) rs1659474774 0.00001
NM_001103.4(ACTN2):c.1863C>T (p.Arg621=) rs1161843319 0.00001
NM_001103.4(ACTN2):c.1891C>T (p.Arg631Cys) rs1446087607 0.00001
NM_001103.4(ACTN2):c.1892G>A (p.Arg631His) rs370908799 0.00001
NM_001103.4(ACTN2):c.1905C>T (p.Asn635=) rs772586220 0.00001
NM_001103.4(ACTN2):c.1906G>A (p.Glu636Lys) rs780431842 0.00001
NM_001103.4(ACTN2):c.1910G>A (p.Arg637His) rs1259556889 0.00001
NM_001103.4(ACTN2):c.1938C>T (p.Ala646=) rs958797222 0.00001
NM_001103.4(ACTN2):c.1945A>G (p.Ile649Val) rs759422747 0.00001
NM_001103.4(ACTN2):c.1946T>C (p.Ile649Thr) rs150825710 0.00001
NM_001103.4(ACTN2):c.1948G>C (p.Gly650Arg) rs1173244523 0.00001
NM_001103.4(ACTN2):c.1952C>T (p.Pro651Leu) rs752552408 0.00001
NM_001103.4(ACTN2):c.1975-5C>G rs369148572 0.00001
NM_001103.4(ACTN2):c.1978A>T (p.Ile660Phe) rs768670466 0.00001
NM_001103.4(ACTN2):c.1985G>A (p.Arg662Gln) rs764931229 0.00001
NM_001103.4(ACTN2):c.19G>A (p.Gly7Ser) rs1057523721 0.00001
NM_001103.4(ACTN2):c.2035A>C (p.Lys679Gln) rs549698133 0.00001
NM_001103.4(ACTN2):c.2054T>C (p.Ile685Thr) rs1057523250 0.00001
NM_001103.4(ACTN2):c.2082G>C (p.Lys694Asn) rs748034053 0.00001
NM_001103.4(ACTN2):c.2143T>C (p.Tyr715His) rs142922067 0.00001
NM_001103.4(ACTN2):c.2155-3T>C rs764437378 0.00001
NM_001103.4(ACTN2):c.2157C>T (p.His719=) rs527771492 0.00001
NM_001103.4(ACTN2):c.2205C>A (p.Ile735=) rs757083123 0.00001
NM_001103.4(ACTN2):c.2210A>C (p.Glu737Ala) rs982200490 0.00001
NM_001103.4(ACTN2):c.2226C>T (p.Ile742=) rs376982788 0.00001
NM_001103.4(ACTN2):c.2232G>A (p.Thr744=) rs144676770 0.00001
NM_001103.4(ACTN2):c.2241G>A (p.Ala747=) rs767011628 0.00001
NM_001103.4(ACTN2):c.2247C>T (p.Gly749=) rs1158361465 0.00001
NM_001103.4(ACTN2):c.2252C>T (p.Thr751Ile) rs140836849 0.00001
NM_001103.4(ACTN2):c.2306A>C (p.Lys769Thr) rs397516573 0.00001
NM_001103.4(ACTN2):c.2314C>T (p.Leu772=) rs1271493806 0.00001
NM_001103.4(ACTN2):c.2346G>T (p.Leu782=) rs1469965295 0.00001
NM_001103.4(ACTN2):c.2387G>A (p.Arg796His) rs772409484 0.00001
NM_001103.4(ACTN2):c.241+2T>C rs1278815500 0.00001
NM_001103.4(ACTN2):c.241+8T>C rs772934028 0.00001
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg) rs769239899 0.00001
NM_001103.4(ACTN2):c.242-3C>T rs770703958 0.00001
NM_001103.4(ACTN2):c.242-6C>T rs1057521158 0.00001
NM_001103.4(ACTN2):c.2424C>T (p.Thr808=) rs202204431 0.00001
NM_001103.4(ACTN2):c.2436A>G (p.Gln812=) rs146445537 0.00001
NM_001103.4(ACTN2):c.2449T>C (p.Phe817Leu) rs757713931 0.00001
NM_001103.4(ACTN2):c.244G>A (p.Glu82Lys) rs139424431 0.00001
NM_001103.4(ACTN2):c.2475C>T (p.Thr825=) rs758805815 0.00001
NM_001103.4(ACTN2):c.2476G>A (p.Asp826Asn) rs1213162184 0.00001
NM_001103.4(ACTN2):c.2477A>T (p.Asp826Val) rs372348405 0.00001
NM_001103.4(ACTN2):c.2484C>T (p.Ala828=) rs397516576 0.00001
NM_001103.4(ACTN2):c.2526+12C>T rs567528320 0.00001
NM_001103.4(ACTN2):c.2526+9T>C rs1246614050 0.00001
NM_001103.4(ACTN2):c.2527-4C>T rs375928466 0.00001
NM_001103.4(ACTN2):c.2554C>T (p.Arg852Trp) rs745317077 0.00001
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His) rs533267299 0.00001
NM_001103.4(ACTN2):c.2573A>C (p.Gln858Pro) rs769940120 0.00001
NM_001103.4(ACTN2):c.2594G>C (p.Arg865Thr) rs752937110 0.00001
NM_001103.4(ACTN2):c.2596A>T (p.Met866Leu) rs1395445136 0.00001
NM_001103.4(ACTN2):c.2609C>T (p.Ser870Leu) rs368754823 0.00001
NM_001103.4(ACTN2):c.2612G>T (p.Gly871Val) rs370341149 0.00001
NM_001103.4(ACTN2):c.2621G>A (p.Ser874Asn) rs1285035538 0.00001
NM_001103.4(ACTN2):c.2629G>T (p.Gly877Cys) rs754834889 0.00001
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr) rs1270659015 0.00001
NM_001103.4(ACTN2):c.2644G>A (p.Ala882Thr) rs747843638 0.00001
NM_001103.4(ACTN2):c.2648C>T (p.Ala883Val) rs769564893 0.00001
NM_001103.4(ACTN2):c.2661A>C (p.Ala887=) rs760091931 0.00001
NM_001103.4(ACTN2):c.2667C>T (p.Tyr889=) rs560852363 0.00001
NM_001103.4(ACTN2):c.266G>A (p.Arg89Gln) rs772390012 0.00001
NM_001103.4(ACTN2):c.2671G>T (p.Glu891Ter) rs1177830945 0.00001
NM_001103.4(ACTN2):c.32A>G (p.Asn11Ser) rs1449856891 0.00001
NM_001103.4(ACTN2):c.362-13T>G rs1472701882 0.00001
NM_001103.4(ACTN2):c.375C>A (p.Gly125=) rs781385336 0.00001
NM_001103.4(ACTN2):c.375C>T (p.Gly125=) rs781385336 0.00001
NM_001103.4(ACTN2):c.427A>C (p.Ile143Leu) rs786205453 0.00001
NM_001103.4(ACTN2):c.440C>T (p.Ser147Leu) rs749667083 0.00001
NM_001103.4(ACTN2):c.508A>C (p.Asn170His) rs148954170 0.00001
NM_001103.4(ACTN2):c.537-16C>T rs1057521958 0.00001
NM_001103.4(ACTN2):c.537-17T>A rs752920763 0.00001
NM_001103.4(ACTN2):c.537-4G>A rs1282585643 0.00001
NM_001103.4(ACTN2):c.550C>T (p.Leu184Phe) rs1405476528 0.00001
NM_001103.4(ACTN2):c.558C>G (p.Leu186=) rs747818782 0.00001
NM_001103.4(ACTN2):c.564C>T (p.Ala188=) rs769536954 0.00001
NM_001103.4(ACTN2):c.570C>A (p.Ile190=) rs762515240 0.00001
NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter) rs1253211384 0.00001
NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln) rs200316891 0.00001
NM_001103.4(ACTN2):c.581G>A (p.Arg194Gln) rs528123945 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001103.4(ACTN2):c.654C>T (p.Ile218=) rs1195889818 0.00001
NM_001103.4(ACTN2):c.706A>G (p.Asn236Asp) rs1193355360 0.00001
NM_001103.4(ACTN2):c.731C>T (p.Ala244Val) rs938796645 0.00001
NM_001103.4(ACTN2):c.741G>A (p.Thr247=) rs777426844 0.00001
NM_001103.4(ACTN2):c.753C>T (p.Cys251=) rs397516583 0.00001
NM_001103.4(ACTN2):c.774C>T (p.Gly258=) rs776005605 0.00001
NM_001103.4(ACTN2):c.775G>A (p.Ala259Thr) rs574401232 0.00001
NM_001103.4(ACTN2):c.776C>T (p.Ala259Val) rs566552494 0.00001
NM_001103.4(ACTN2):c.780G>C (p.Glu260Asp) rs1242086183 0.00001
NM_001103.4(ACTN2):c.784-4A>G rs1396316316 0.00001
NM_001103.4(ACTN2):c.877-4G>A rs372070498 0.00001
NM_001103.4(ACTN2):c.896G>A (p.Arg299His) rs746677039 0.00001
NM_001103.4(ACTN2):c.950A>G (p.Gln317Arg) rs970567732 0.00001
NM_001103.4(ACTN2):c.955A>G (p.Lys319Glu) rs754614411 0.00001
NM_001103.4(ACTN2):c.970C>T (p.Arg324Trp) rs747674727 0.00001
NM_001103.4(ACTN2):c.980G>A (p.Arg327His) rs554811924 0.00001
NM_001103.4(ACTN2):c.982C>T (p.Arg328Trp) rs770855273 0.00001
NM_001103.4(ACTN2):c.987G>A (p.Lys329=) rs1185341467 0.00001
NC_000001.10:g.(?_236848754)_(236928931_?)dup
NC_000001.10:g.(?_236849954)_(236899988_?)dup
NC_000001.10:g.(?_236849954)_(236925939_?)dup
NC_000001.10:g.(?_236849974)_(236850119_?)dup
NC_000001.10:g.(?_236849974)_(236925919_?)del
NC_000001.10:g.(?_236849974)_(236925919_?)dup
NC_000001.10:g.(?_236881138)_(236925919_?)dup
NC_000001.10:g.(?_236902582)_(236902852_?)del
NC_000001.10:g.(?_236906176)_(236925919_?)del
NC_000001.10:g.(?_236917227)_(236920952_?)dup
NC_000001.11:g.(?_236751450)_(236762639_?)del
NC_000001.11:g.236718900_236718924del rs2102894768
NM_001103.4(ACTN2):c.1002G>C (p.Lys334Asn)
NM_001103.4(ACTN2):c.1005G>A (p.Val335=)
NM_001103.4(ACTN2):c.1009G>A (p.Glu337Lys) rs760884869
NM_001103.4(ACTN2):c.1011G>A (p.Glu337=)
NM_001103.4(ACTN2):c.1025A>G (p.Glu342Gly) rs1234368540
NM_001103.4(ACTN2):c.1032C>T (p.Asn344=) rs764202471
NM_001103.4(ACTN2):c.103G>A (p.Ala35Thr)
NM_001103.4(ACTN2):c.1041G>A (p.Thr347=)
NM_001103.4(ACTN2):c.1047G>A (p.Gln349=)
NM_001103.4(ACTN2):c.1056G>A (p.Leu352=) rs2102922642
NM_001103.4(ACTN2):c.1069C>T (p.Arg357Cys)
NM_001103.4(ACTN2):c.107G>A (p.Trp36Ter) rs2102851395
NM_001103.4(ACTN2):c.1098G>C (p.Lys366Asn) rs1243320734
NM_001103.4(ACTN2):c.1102G>C (p.Val368Leu)
NM_001103.4(ACTN2):c.1104G>A (p.Val368=) rs397516563
NM_001103.4(ACTN2):c.1107+12G>A
NM_001103.4(ACTN2):c.1107+13C>T
NM_001103.4(ACTN2):c.1107+15C>T rs1392352816
NM_001103.4(ACTN2):c.1107+17A>G
NM_001103.4(ACTN2):c.1107+18A>C
NM_001103.4(ACTN2):c.1107+19G>A rs2102922750
NM_001103.4(ACTN2):c.1107+5G>A
NM_001103.4(ACTN2):c.1107+5G>T rs2102922727
NM_001103.4(ACTN2):c.1107+7A>G rs1394794170
NM_001103.4(ACTN2):c.1108-10A>G rs397516564
NM_001103.4(ACTN2):c.1108-20T>G
NM_001103.4(ACTN2):c.1108G>A (p.Asp370Asn) rs776851017
NM_001103.4(ACTN2):c.1109A>T (p.Asp370Val)
NM_001103.4(ACTN2):c.1112T>C (p.Ile371Thr)
NM_001103.4(ACTN2):c.1115C>G (p.Ala372Gly)
NM_001103.4(ACTN2):c.1130G>A (p.Arg377Lys) rs1325419598
NM_001103.4(ACTN2):c.1135G>A (p.Glu379Lys) rs1659115252
NM_001103.4(ACTN2):c.1149G>A (p.Lys383=)
NM_001103.4(ACTN2):c.1150_1215dup (p.Gly384_Lys405dup) rs2102927362
NM_001103.4(ACTN2):c.1161G>A (p.Glu387=) rs1488282189
NM_001103.4(ACTN2):c.1162T>G (p.Trp388Gly) rs376144003
NM_001103.4(ACTN2):c.1165T>C (p.Leu389=)
NM_001103.4(ACTN2):c.1167_1168del (p.Leu389fs) rs2102927402
NM_001103.4(ACTN2):c.1169T>A (p.Leu390His) rs1479627329
NM_001103.4(ACTN2):c.1176G>A (p.Glu392=)
NM_001103.4(ACTN2):c.1184del (p.Arg395fs) rs2102927467
NM_001103.4(ACTN2):c.1192C>G (p.Arg398Gly) rs148189507
NM_001103.4(ACTN2):c.1198G>A (p.Glu400Lys)
NM_001103.4(ACTN2):c.1204C>G (p.Leu402Val) rs1304791812
NM_001103.4(ACTN2):c.1210_1212delinsAAA (p.Glu404Lys) rs1558243133
NM_001103.4(ACTN2):c.1212G>T (p.Glu404Asp) rs1379352019
NM_001103.4(ACTN2):c.1219A>G (p.Arg407Gly)
NM_001103.4(ACTN2):c.1226A>G (p.Lys409Arg) rs863225115
NM_001103.4(ACTN2):c.122G>A (p.Arg41Lys) rs781746567
NM_001103.4(ACTN2):c.1232C>A (p.Ser411Ter) rs748441967
NM_001103.4(ACTN2):c.1239C>T (p.His413=) rs771579640
NM_001103.4(ACTN2):c.1242G>T (p.Glu414Asp) rs775057676
NM_001103.4(ACTN2):c.1245T>G (p.Thr415=)
NM_001103.4(ACTN2):c.1255+1G>C rs1367331045
NM_001103.4(ACTN2):c.1255+3A>G
NM_001103.4(ACTN2):c.1255+4A>C rs1659121549
NM_001103.4(ACTN2):c.1255+5G>T
NM_001103.4(ACTN2):c.1255+6T>G rs1572135675
NM_001103.4(ACTN2):c.1255+8G>T rs1422637812
NM_001103.4(ACTN2):c.1255G>A (p.Gly419Ser) rs1164161500
NM_001103.4(ACTN2):c.1256-11C>T
NM_001103.4(ACTN2):c.1256-15C>T
NM_001103.4(ACTN2):c.1256-20T>C
NM_001103.4(ACTN2):c.1256-3C>T rs1553303028
NM_001103.4(ACTN2):c.1256-4G>A
NM_001103.4(ACTN2):c.1256-9C>A
NM_001103.4(ACTN2):c.126+11del rs2102851424
NM_001103.4(ACTN2):c.126+11dup
NM_001103.4(ACTN2):c.126+13C>G rs1440134547
NM_001103.4(ACTN2):c.126+21_126+56del rs1430117043
NM_001103.4(ACTN2):c.126+2T>G
NM_001103.4(ACTN2):c.126+3C>T rs1665886801
NM_001103.4(ACTN2):c.1262A>G (p.Glu421Gly) rs2102929760
NM_001103.4(ACTN2):c.1263G>T (p.Glu421Asp) rs572642643
NM_001103.4(ACTN2):c.1264C>T (p.Gln422Ter) rs1659170214
NM_001103.4(ACTN2):c.127-11T>G
NM_001103.4(ACTN2):c.127-15T>C
NM_001103.4(ACTN2):c.1272G>A (p.Leu424=) rs1060504998
NM_001103.4(ACTN2):c.1274T>C (p.Leu425Pro) rs1572137003
NM_001103.4(ACTN2):c.1278G>A (p.Gln426=) rs397516565
NM_001103.4(ACTN2):c.1287C>G (p.Tyr429Ter) rs764881077
NM_001103.4(ACTN2):c.1294G>C (p.Ala432Pro)
NM_001103.4(ACTN2):c.1298C>G (p.Ser433Trp)
NM_001103.4(ACTN2):c.1302G>T (p.Leu434=) rs2102929881
NM_001103.4(ACTN2):c.1304C>T (p.Thr435Ile)
NM_001103.4(ACTN2):c.130T>C (p.Phe44Leu)
NM_001103.4(ACTN2):c.1311G>A (p.Val437=) rs886038902
NM_001103.4(ACTN2):c.1337C>A (p.Ala446Glu) rs767041933
NM_001103.4(ACTN2):c.1341C>G (p.Phe447Leu) rs34785693
NM_001103.4(ACTN2):c.1342G>C (p.Glu448Gln) rs764031568
NM_001103.4(ACTN2):c.1347C>A (p.Ser449Arg)
NM_001103.4(ACTN2):c.1348G>A (p.Asp450Asn) rs774252565
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.4(ACTN2):c.1349A>G (p.Asp450Gly)
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.4(ACTN2):c.1359G>C (p.Ala453=) rs780174131
NM_001103.4(ACTN2):c.1362C>T (p.His454=)
NM_001103.4(ACTN2):c.1368C>T (p.Asp456=)
NM_001103.4(ACTN2):c.1370G>A (p.Arg457His) rs781559530
NM_001103.4(ACTN2):c.1370G>T (p.Arg457Leu)
NM_001103.4(ACTN2):c.1371C>G (p.Arg457=) rs114008185
NM_001103.4(ACTN2):c.1377G>A (p.Glu459=)
NM_001103.4(ACTN2):c.1379A>G (p.Gln460Arg) rs1659176119
NM_001103.4(ACTN2):c.1384G>A (p.Ala462Thr) rs376923220
NM_001103.4(ACTN2):c.1388C>G (p.Ala463Gly)
NM_001103.4(ACTN2):c.1390A>G (p.Ile464Val) rs760714286
NM_001103.4(ACTN2):c.1394C>T (p.Ala465Val)
NM_001103.4(ACTN2):c.1395G>T (p.Ala465=) rs750674913
NM_001103.4(ACTN2):c.1406+11A>G rs2102930160
NM_001103.4(ACTN2):c.1406+18C>G
NM_001103.4(ACTN2):c.1406+18C>T rs571362372
NM_001103.4(ACTN2):c.1406+19C>T rs755509475
NM_001103.4(ACTN2):c.1407-12C>A
NM_001103.4(ACTN2):c.1407-15T>G
NM_001103.4(ACTN2):c.1407-541_1446del rs1572139563
NM_001103.4(ACTN2):c.1416C>T (p.Asp472=)
NM_001103.4(ACTN2):c.1420C>T (p.His474Tyr) rs1246910938
NM_001103.4(ACTN2):c.1421A>G (p.His474Arg)
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.1426G>T (p.Ala476Ser) rs142943120
NM_001103.4(ACTN2):c.1434T>C (p.Asn478=)
NM_001103.4(ACTN2):c.1437C>G (p.Val479=) rs1572140071
NM_001103.4(ACTN2):c.143G>C (p.Cys48Ser) rs794728959
NM_001103.4(ACTN2):c.143_144del (p.Trp47_Cys48insTer)
NM_001103.4(ACTN2):c.1442A>G (p.Asp481Gly) rs1057518451
NM_001103.4(ACTN2):c.1444C>A (p.Arg482=)
NM_001103.4(ACTN2):c.1444C>G (p.Arg482Gly) rs199604590
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001103.4(ACTN2):c.1452G>C (p.Gln484His) rs200529923
NM_001103.4(ACTN2):c.1457T>C (p.Ile486Thr) rs1659279364
NM_001103.4(ACTN2):c.1460G>T (p.Cys487Phe) rs727504619
NM_001103.4(ACTN2):c.1462G>T (p.Asp488Tyr) rs1553303427
NM_001103.4(ACTN2):c.1465C>T (p.Gln489Ter) rs1659279726
NM_001103.4(ACTN2):c.1469G>A (p.Trp490Ter) rs1572140129
NM_001103.4(ACTN2):c.1473C>G (p.Asp491Glu)
NM_001103.4(ACTN2):c.1474C>T (p.Arg492Ter)
NM_001103.4(ACTN2):c.1484C>A (p.Thr495Lys) rs200248944
NM_001103.4(ACTN2):c.1494G>C (p.Gln498His) rs1413564541
NM_001103.4(ACTN2):c.1498A>C (p.Arg500=) rs1659280898
NM_001103.4(ACTN2):c.1499G>A (p.Arg500Lys)
NM_001103.4(ACTN2):c.1508C>A (p.Ala503Asp) rs1572140190
NM_001103.4(ACTN2):c.1510C>T (p.Leu504=) rs2102934712
NM_001103.4(ACTN2):c.1516-10T>C rs1572141263
NM_001103.4(ACTN2):c.1516-3T>C rs2102936291
NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly) rs794728967
NM_001103.4(ACTN2):c.1524G>A (p.Glu508=) rs772606052
NM_001103.4(ACTN2):c.1531C>G (p.Leu511Val) rs2102936333
NM_001103.4(ACTN2):c.1532T>C (p.Leu511Pro) rs786205346
NM_001103.4(ACTN2):c.1533A>G (p.Leu511=)
NM_001103.4(ACTN2):c.153C>T (p.His51=) rs1057523501
NM_001103.4(ACTN2):c.1547A>G (p.Gln516Arg) rs1272875116
NM_001103.4(ACTN2):c.1547A>T (p.Gln516Leu)
NM_001103.4(ACTN2):c.1557G>A (p.Leu519=) rs1057523732
NM_001103.4(ACTN2):c.1563T>G (p.Phe521Leu)
NM_001103.4(ACTN2):c.1566C>T (p.Ala522=) rs1060504996
NM_001103.4(ACTN2):c.156A>T (p.Leu52=)
NM_001103.4(ACTN2):c.1573G>T (p.Ala525Ser)
NM_001103.4(ACTN2):c.1578T>C (p.Ala526=) rs1037951773
NM_001103.4(ACTN2):c.1587C>T (p.Asn529=)
NM_001103.4(ACTN2):c.1592G>A (p.Trp531Ter)
NM_001103.4(ACTN2):c.1599G>A (p.Glu533=)
NM_001103.4(ACTN2):c.1601G>T (p.Gly534Val) rs1060503685
NM_001103.4(ACTN2):c.1602C>T (p.Gly534=)
NM_001103.4(ACTN2):c.1603G>A (p.Ala535Thr)
NM_001103.4(ACTN2):c.1604C>T (p.Ala535Val)
NM_001103.4(ACTN2):c.1606A>C (p.Met536Leu) rs755708114
NM_001103.4(ACTN2):c.1606A>G (p.Met536Val)
NM_001103.4(ACTN2):c.1607T>C (p.Met536Thr)
NM_001103.4(ACTN2):c.1609G>T (p.Glu537Ter)
NM_001103.4(ACTN2):c.1614T>G (p.Asp538Glu) rs368615266
NM_001103.4(ACTN2):c.1615C>T (p.Leu539=) rs2102936547
NM_001103.4(ACTN2):c.161A>G (p.Lys54Arg)
NM_001103.4(ACTN2):c.1625T>C (p.Met542Thr) rs778713804
NM_001103.4(ACTN2):c.1630A>G (p.Ile544Val)
NM_001103.4(ACTN2):c.1631T>C (p.Ile544Thr)
NM_001103.4(ACTN2):c.1637A>G (p.His546Arg) rs1659325362
NM_001103.4(ACTN2):c.1651A>G (p.Ile551Val)
NM_001103.4(ACTN2):c.1656+10C>T
NM_001103.4(ACTN2):c.1656+12G>A
NM_001103.4(ACTN2):c.1656+12G>T rs768816601
NM_001103.4(ACTN2):c.1656+16del
NM_001103.4(ACTN2):c.1656+1G>A
NM_001103.4(ACTN2):c.1656+20_1656+21del
NM_001103.4(ACTN2):c.1656+3A>G
NM_001103.4(ACTN2):c.1656+4A>C rs1659326105
NM_001103.4(ACTN2):c.1657-19A>C rs1182422103
NM_001103.4(ACTN2):c.1657-3dup
NM_001103.4(ACTN2):c.1657-6G>A rs1328857189
NM_001103.4(ACTN2):c.1657-8G>A rs753249728
NM_001103.4(ACTN2):c.1667C>T (p.Thr556Ile)
NM_001103.4(ACTN2):c.1670C>G (p.Ala557Gly) rs1389785784
NM_001103.4(ACTN2):c.1670C>T (p.Ala557Val)
NM_001103.4(ACTN2):c.1671G>T (p.Ala557=) rs772691130
NM_001103.4(ACTN2):c.1674T>C (p.His558=) rs2102939461
NM_001103.4(ACTN2):c.1683C>T (p.Phe561=) rs2102939469
NM_001103.4(ACTN2):c.1686G>C (p.Lys562Asn)
NM_001103.4(ACTN2):c.1692G>A (p.Thr564=) rs1384379468
NM_001103.4(ACTN2):c.1699G>A (p.Glu567Lys) rs1659393136
NM_001103.4(ACTN2):c.16C>G (p.Pro6Ala)
NM_001103.4(ACTN2):c.16C>T (p.Pro6Ser)
NM_001103.4(ACTN2):c.1703C>T (p.Ala568Val) rs776805533
NM_001103.4(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.4(ACTN2):c.1704G>T (p.Ala568=)
NM_001103.4(ACTN2):c.1707C>A (p.Asp569Glu) rs773915011
NM_001103.4(ACTN2):c.1708G>C (p.Gly570Arg)
NM_001103.4(ACTN2):c.1710A>C (p.Gly570=)
NM_001103.4(ACTN2):c.1716G>A (p.Arg572=) rs1248687374
NM_001103.4(ACTN2):c.171C>A (p.Thr57=)
NM_001103.4(ACTN2):c.1723A>C (p.Ile575Leu) rs756815410
NM_001103.4(ACTN2):c.1727T>C (p.Met576Thr) rs1572143354
NM_001103.4(ACTN2):c.1730C>A (p.Ala577Asp)
NM_001103.4(ACTN2):c.1735C>T (p.Gln579Ter)
NM_001103.4(ACTN2):c.1738A>G (p.Asn580Asp)
NM_001103.4(ACTN2):c.173A>G (p.Gln58Arg)
NM_001103.4(ACTN2):c.1740C>A (p.Asn580Lys) rs3738546
NM_001103.4(ACTN2):c.1740C>T (p.Asn580=) rs3738546
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala) rs200631005
NM_001103.4(ACTN2):c.1757T>C (p.Ile586Thr)
NM_001103.4(ACTN2):c.1761G>A (p.Gln587=) rs770066690
NM_001103.4(ACTN2):c.1766ACA[1] (p.Asn590del)
NM_001103.4(ACTN2):c.1769A>G (p.Asn590Ser)
NM_001103.4(ACTN2):c.1770C>T (p.Asn590=) rs773404041
NM_001103.4(ACTN2):c.1771A>G (p.Ile591Val) rs377650301
NM_001103.4(ACTN2):c.1775G>T (p.Arg592Ile) rs774780856
NM_001103.4(ACTN2):c.1778T>C (p.Ile593Thr)
NM_001103.4(ACTN2):c.1780A>G (p.Ser594Gly) rs1572143496
NM_001103.4(ACTN2):c.1782C>G (p.Ser594Arg) rs2102939707
NM_001103.4(ACTN2):c.1788C>T (p.Ser596=)
NM_001103.4(ACTN2):c.1793C>T (p.Pro598Leu)
NM_001103.4(ACTN2):c.1794G>C (p.Pro598=) rs137890030
NM_001103.4(ACTN2):c.1797C>T (p.Tyr599=) rs1553303873
NM_001103.4(ACTN2):c.17C>G (p.Pro6Arg) rs2102851212
NM_001103.4(ACTN2):c.1808C>T (p.Thr603Ile)
NM_001103.4(ACTN2):c.1811T>C (p.Met604Thr)
NM_001103.4(ACTN2):c.1814A>G (p.Asp605Gly) rs1659399290
NM_001103.4(ACTN2):c.1826C>T (p.Thr609Ile)
NM_001103.4(ACTN2):c.1834G>A (p.Asp612Asn)
NM_001103.4(ACTN2):c.1836C>T (p.Asp612=)
NM_001103.4(ACTN2):c.1839+13G>C
NM_001103.4(ACTN2):c.1839+15del
NM_001103.4(ACTN2):c.1839+18T>C
NM_001103.4(ACTN2):c.1839+20G>C rs1355785096
NM_001103.4(ACTN2):c.1839+4G>C
NM_001103.4(ACTN2):c.1840-10G>T rs1287403917
NM_001103.4(ACTN2):c.1840-11G>C
NM_001103.4(ACTN2):c.1840-11G>T
NM_001103.4(ACTN2):c.1840-5G>A rs2102942477
NM_001103.4(ACTN2):c.1841T>C (p.Val614Ala)
NM_001103.4(ACTN2):c.1842G>C (p.Val614=)
NM_001103.4(ACTN2):c.184A>G (p.Ile62Val) rs1658269503
NM_001103.4(ACTN2):c.1851C>G (p.Leu617=) rs752499285
NM_001103.4(ACTN2):c.1851C>T (p.Leu617=)
NM_001103.4(ACTN2):c.1857C>T (p.Pro619=) rs1659474774
NM_001103.4(ACTN2):c.1858A>G (p.Ile620Val) rs1659474887
NM_001103.4(ACTN2):c.1859T>A (p.Ile620Asn)
NM_001103.4(ACTN2):c.1861C>T (p.Arg621Cys) rs756407851
NM_001103.4(ACTN2):c.1873C>T (p.Leu625=)
NM_001103.4(ACTN2):c.1888G>A (p.Ala630Thr) rs1338074315
NM_001103.4(ACTN2):c.189G>A (p.Glu63=) rs2102893488
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.1901C>T (p.Ala634Val)
NM_001103.4(ACTN2):c.1903A>G (p.Asn635Asp) rs1659477097
NM_001103.4(ACTN2):c.1905C>A (p.Asn635Lys) rs772586220
NM_001103.4(ACTN2):c.1907A>G (p.Glu636Gly) rs1010571438
NM_001103.4(ACTN2):c.1909C>A (p.Arg637Ser)
NM_001103.4(ACTN2):c.190G>A (p.Glu64Lys) rs2102893489
NM_001103.4(ACTN2):c.1916G>A (p.Arg639Lys) rs1659477796
NM_001103.4(ACTN2):c.1919G>T (p.Arg640Leu)
NM_001103.4(ACTN2):c.1923G>T (p.Gln641His)
NM_001103.4(ACTN2):c.1940A>G (p.Asn647Ser) rs2102942643
NM_001103.4(ACTN2):c.1943C>G (p.Ala648Gly) rs1196167380
NM_001103.4(ACTN2):c.1948G>A (p.Gly650Arg) rs1173244523
NM_001103.4(ACTN2):c.1951C>A (p.Pro651Thr)
NM_001103.4(ACTN2):c.1951C>T (p.Pro651Ser)
NM_001103.4(ACTN2):c.1961A>G (p.Gln654Arg)
NM_001103.4(ACTN2):c.1969A>T (p.Met657Leu)
NM_001103.4(ACTN2):c.1974+12C>T
NM_001103.4(ACTN2):c.1974+14C>T rs1659481365
NM_001103.4(ACTN2):c.1974+20G>T
NM_001103.4(ACTN2):c.1974+4A>G
NM_001103.4(ACTN2):c.1974G>A (p.Glu658=)
NM_001103.4(ACTN2):c.1975-10C>T
NM_001103.4(ACTN2):c.1975-11G>A
NM_001103.4(ACTN2):c.1975-13_1975-9del
NM_001103.4(ACTN2):c.1975-2A>G
NM_001103.4(ACTN2):c.1975-5C>A rs369148572
NM_001103.4(ACTN2):c.1975-5C>T
NM_001103.4(ACTN2):c.1975-6C>A rs201255023
NM_001103.4(ACTN2):c.1975-6C>G rs201255023
NM_001103.4(ACTN2):c.1975-6C>T rs201255023
NM_001103.4(ACTN2):c.1975-7C>A rs756874090
NM_001103.4(ACTN2):c.1975-8C>T rs375957369
NM_001103.4(ACTN2):c.1981G>T (p.Ala661Ser) rs2102943873
NM_001103.4(ACTN2):c.1982C>T (p.Ala661Val)
NM_001103.4(ACTN2):c.1984C>G (p.Arg662Gly) rs150021739
NM_001103.4(ACTN2):c.1989C>G (p.Ser663Arg)
NM_001103.4(ACTN2):c.1998G>C (p.Gln666His)
NM_001103.4(ACTN2):c.1A>G (p.Met1Val)
NM_001103.4(ACTN2):c.1_6del (p.Met1_Asn2del) rs1665879389
NM_001103.4(ACTN2):c.2007A>C (p.Gly669=) rs1572146383
NM_001103.4(ACTN2):c.2008G>A (p.Ala670Thr)
NM_001103.4(ACTN2):c.200G>A (p.Arg67Lys) rs1658270003
NM_001103.4(ACTN2):c.2010C>T (p.Ala670=)
NM_001103.4(ACTN2):c.2016A>G (p.Glu672=)
NM_001103.4(ACTN2):c.2024T>C (p.Met675Thr)
NM_001103.4(ACTN2):c.2029C>T (p.Gln677Ter) rs2102943969
NM_001103.4(ACTN2):c.2033_2036dup (p.Lys679fs) rs2102943983
NM_001103.4(ACTN2):c.2036A>G (p.Lys679Arg)
NM_001103.4(ACTN2):c.2051A>T (p.Asn684Ile) rs576783493
NM_001103.4(ACTN2):c.2053A>C (p.Ile685Leu)
NM_001103.4(ACTN2):c.2054TCA[1] (p.Ile686del) rs749678360
NM_001103.4(ACTN2):c.2056A>G (p.Ile686Val)
NM_001103.4(ACTN2):c.2060_2061delinsCA (p.Asn687Thr)
NM_001103.4(ACTN2):c.2069ACA[1] (p.Asn691del) rs757747164
NM_001103.4(ACTN2):c.2074A>G (p.Ile692Val)
NM_001103.4(ACTN2):c.2077G>A (p.Asp693Asn)
NM_001103.4(ACTN2):c.2078A>G (p.Asp693Gly) rs1572146545
NM_001103.4(ACTN2):c.2085G>A (p.Leu695=)
NM_001103.4(ACTN2):c.2088G>A (p.Glu696=)
NM_001103.4(ACTN2):c.2094C>A (p.Asp698Glu) rs1302931594
NM_001103.4(ACTN2):c.2112G>A (p.Glu704=) rs544721025
NM_001103.4(ACTN2):c.2113G>A (p.Ala705Thr) rs1659517244
NM_001103.4(ACTN2):c.2115C>T (p.Ala705=)
NM_001103.4(ACTN2):c.2119G>A (p.Val707Ile)
NM_001103.4(ACTN2):c.2120T>C (p.Val707Ala)
NM_001103.4(ACTN2):c.2127C>T (p.Asp709=) rs556612523
NM_001103.4(ACTN2):c.2133G>C (p.Lys711Asn)
NM_001103.4(ACTN2):c.2154+12A>G rs925735821
NM_001103.4(ACTN2):c.2154+16A>C
NM_001103.4(ACTN2):c.2154+19C>A rs1484623448
NM_001103.4(ACTN2):c.2154+19C>T
NM_001103.4(ACTN2):c.2154+20G>A
NM_001103.4(ACTN2):c.2155-10C>G rs1553304725
NM_001103.4(ACTN2):c.2155-13T>C
NM_001103.4(ACTN2):c.2155-13_2155-7del rs1299215367
NM_001103.4(ACTN2):c.2155-4A>G rs201576900
NM_001103.4(ACTN2):c.2155-6C>G rs1286546196
NM_001103.4(ACTN2):c.2155-8C>T
NM_001103.4(ACTN2):c.2160T>A (p.Ile720=)
NM_001103.4(ACTN2):c.2161C>G (p.Arg721Gly) rs149433837
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.4(ACTN2):c.2162G>C (p.Arg721Pro) rs546431200
NM_001103.4(ACTN2):c.2168G>C (p.Gly723Ala) rs906925808
NM_001103.4(ACTN2):c.216C>A (p.Leu72=) rs1572112476
NM_001103.4(ACTN2):c.216C>G (p.Leu72=)
NM_001103.4(ACTN2):c.2170T>C (p.Trp724Arg)
NM_001103.4(ACTN2):c.2171G>A (p.Trp724Ter)
NM_001103.4(ACTN2):c.2175G>A (p.Glu725=)
NM_001103.4(ACTN2):c.2178G>C (p.Leu726=)
NM_001103.4(ACTN2):c.2178G>T (p.Leu726=)
NM_001103.4(ACTN2):c.2181G>T (p.Leu727=) rs878854173
NM_001103.4(ACTN2):c.2190C>T (p.Thr730=)
NM_001103.4(ACTN2):c.21C>T (p.Gly7=) rs1387972965
NM_001103.4(ACTN2):c.2201C>T (p.Thr734Ile) rs886046207
NM_001103.4(ACTN2):c.2207A>G (p.Asn736Ser)
NM_001103.4(ACTN2):c.2211G>T (p.Glu737Asp)
NM_001103.4(ACTN2):c.2212G>A (p.Val738Met)
NM_001103.4(ACTN2):c.2214G>A (p.Val738=)
NM_001103.4(ACTN2):c.2222A>G (p.Gln741Arg)
NM_001103.4(ACTN2):c.2223G>C (p.Gln741His)
NM_001103.4(ACTN2):c.2227C>T (p.Leu743=) rs1321954523
NM_001103.4(ACTN2):c.2232G>T (p.Thr744=)
NM_001103.4(ACTN2):c.2233A>T (p.Arg745Ter) rs2102947099
NM_001103.4(ACTN2):c.2240C>T (p.Ala747Val) rs1060503686
NM_001103.4(ACTN2):c.2241G>T (p.Ala747=)
NM_001103.4(ACTN2):c.224T>G (p.Leu75Arg)
NM_001103.4(ACTN2):c.2264T>C (p.Met755Thr)
NM_001103.4(ACTN2):c.2264T>G (p.Met755Arg)
NM_001103.4(ACTN2):c.2279C>T (p.Ala760Val) rs1572149075
NM_001103.4(ACTN2):c.2281T>A (p.Ser761Thr)
NM_001103.4(ACTN2):c.2288A>G (p.Asn763Ser)
NM_001103.4(ACTN2):c.2289C>G (p.Asn763Lys) rs745579917
NM_001103.4(ACTN2):c.2292C>T (p.His764=)
NM_001103.4(ACTN2):c.22G>A (p.Val8Met) rs551141480
NM_001103.4(ACTN2):c.2301+11C>T
NM_001103.4(ACTN2):c.2301+2T>C rs2102947209
NM_001103.4(ACTN2):c.2301+7C>G rs2102947215
NM_001103.4(ACTN2):c.2301G>C (p.Arg767Ser)
NM_001103.4(ACTN2):c.2302-18del
NM_001103.4(ACTN2):c.2302-9T>C
NM_001103.4(ACTN2):c.2302A>G (p.Arg768Gly)
NM_001103.4(ACTN2):c.2304G>A (p.Arg768=)
NM_001103.4(ACTN2):c.2316G>A (p.Leu772=)
NM_001103.4(ACTN2):c.2324A>T (p.His775Leu) rs147616930
NM_001103.4(ACTN2):c.2325T>C (p.His775=)
NM_001103.4(ACTN2):c.2336G>C (p.Arg779Thr)
NM_001103.4(ACTN2):c.2344C>T (p.Leu782=)
NM_001103.4(ACTN2):c.2349T>A (p.Ile783=) rs2102949992
NM_001103.4(ACTN2):c.2352C>T (p.Ser784=)
NM_001103.4(ACTN2):c.235A>G (p.Ile79Val)
NM_001103.4(ACTN2):c.2367+11del
NM_001103.4(ACTN2):c.2367+17A>G rs1436438725
NM_001103.4(ACTN2):c.2368-12A>G
NM_001103.4(ACTN2):c.2368-3C>A
NM_001103.4(ACTN2):c.2368-5C>A rs771427713
NM_001103.4(ACTN2):c.2368-8T>C
NM_001103.4(ACTN2):c.2373A>G (p.Glu791=) rs2102951481
NM_001103.4(ACTN2):c.2387G>T (p.Arg796Leu) rs772409484
NM_001103.4(ACTN2):c.2388C>T (p.Arg796=)
NM_001103.4(ACTN2):c.2392A>G (p.Met798Val)
NM_001103.4(ACTN2):c.2404G>A (p.Asp802Asn)
NM_001103.4(ACTN2):c.241+12A>G
NM_001103.4(ACTN2):c.241+12A>T
NM_001103.4(ACTN2):c.241+16C>T
NM_001103.4(ACTN2):c.241+18C>T
NM_001103.4(ACTN2):c.2411A>G (p.Asn804Ser) rs776329264
NM_001103.4(ACTN2):c.242-14T>G
NM_001103.4(ACTN2):c.242-15C>T
NM_001103.4(ACTN2):c.242-20A>T
NM_001103.4(ACTN2):c.242-3C>A
NM_001103.4(ACTN2):c.242-4A>T
NM_001103.4(ACTN2):c.242-9A>G
NM_001103.4(ACTN2):c.2423C>G (p.Thr808Ser) rs148833906
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.4(ACTN2):c.2425_2430del (p.Val809_Thr810del) rs1659690423
NM_001103.4(ACTN2):c.2427C>A (p.Val809=)
NM_001103.4(ACTN2):c.2428A>G (p.Thr810Ala)
NM_001103.4(ACTN2):c.242G>A (p.Gly81Glu) rs1658299884
NM_001103.4(ACTN2):c.2430C>A (p.Thr810=)
NM_001103.4(ACTN2):c.2434C>T (p.Gln812Ter) rs2102951649
NM_001103.4(ACTN2):c.2436A>T (p.Gln812His)
NM_001103.4(ACTN2):c.2443A>G (p.Ile815Val)
NM_001103.4(ACTN2):c.2462A>G (p.Glu821Gly)
NM_001103.4(ACTN2):c.2463G>A (p.Glu821=)
NM_001103.4(ACTN2):c.2465C>T (p.Thr822Met)
NM_001103.4(ACTN2):c.2466G>A (p.Thr822=) rs746365850
NM_001103.4(ACTN2):c.2468C>T (p.Ala823Val) rs12072499
NM_001103.4(ACTN2):c.2485G>A (p.Glu829Lys) rs770335717
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter) rs770335717
NM_001103.4(ACTN2):c.2488C>A (p.Gln830Lys)
NM_001103.4(ACTN2):c.2491G>C (p.Val831Leu) rs2102951840
NM_001103.4(ACTN2):c.2498C>T (p.Ala833Val)
NM_001103.4(ACTN2):c.249G>C (p.Arg83Ser)
NM_001103.4(ACTN2):c.2506C>T (p.Arg836Trp)
NM_001103.4(ACTN2):c.2508G>A (p.Arg836=) rs2102951896
NM_001103.4(ACTN2):c.2513T>G (p.Leu838Arg)
NM_001103.4(ACTN2):c.2520T>C (p.Ser840=)
NM_001103.4(ACTN2):c.2526+3C>T
NM_001103.4(ACTN2):c.2526+7A>G
NM_001103.4(ACTN2):c.2527-17T>A rs977332742
NM_001103.4(ACTN2):c.2527-3C>T
NM_001103.4(ACTN2):c.2527-6del
NM_001103.4(ACTN2):c.2527-6dup rs1558252756
NM_001103.4(ACTN2):c.2528C>A (p.Pro843Gln)
NM_001103.4(ACTN2):c.2530T>C (p.Tyr844His) rs1558252775
NM_001103.4(ACTN2):c.2538_2539delinsTC (p.Ala847Pro) rs2102953618
NM_001103.4(ACTN2):c.253C>T (p.Pro85Ser) rs1558232396
NM_001103.4(ACTN2):c.2545G>A (p.Glu849Lys) rs1659736554
NM_001103.4(ACTN2):c.2549T>G (p.Leu850Arg) rs2102953648
NM_001103.4(ACTN2):c.2557_2569del (p.Glu853fs)
NM_001103.4(ACTN2):c.2570A>G (p.Asp857Gly)
NM_001103.4(ACTN2):c.2576C>A (p.Ala859Asp) rs773297054
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001103.4(ACTN2):c.2587A>G (p.Ile863Val) rs397516577
NM_001103.4(ACTN2):c.2599C>T (p.Pro867Ser) rs1659739403
NM_001103.4(ACTN2):c.2600C>T (p.Pro867Leu) rs1558252869
NM_001103.4(ACTN2):c.2606A>G (p.Tyr869Cys)
NM_001103.4(ACTN2):c.2614C>G (p.Pro872Ala)
NM_001103.4(ACTN2):c.2614C>T (p.Pro872Ser)
NM_001103.4(ACTN2):c.2614_2616delinsGAG (p.Pro872Glu)
NM_001103.4(ACTN2):c.2616A>G (p.Pro872=) rs1572153472
NM_001103.4(ACTN2):c.2617G>C (p.Gly873Arg)
NM_001103.4(ACTN2):c.2619C>A (p.Gly873=) rs1060504995
NM_001103.4(ACTN2):c.2628T>G (p.Pro876=) rs1572153502
NM_001103.4(ACTN2):c.262G>C (p.Asp88His) rs2102894794
NM_001103.4(ACTN2):c.2631_2632del (p.Ala878fs) rs878854174
NM_001103.4(ACTN2):c.2652C>G (p.Phe884Leu) rs1659743387
NM_001103.4(ACTN2):c.2653T>C (p.Ser885Pro) rs863224691
NM_001103.4(ACTN2):c.2662C>T (p.Leu888Phe)
NM_001103.4(ACTN2):c.2673G>C (p.Glu891Asp) rs1659744712
NM_001103.4(ACTN2):c.2674A>G (p.Ser892Gly)
NM_001103.4(ACTN2):c.2676C>G (p.Ser892Arg)
NM_001103.4(ACTN2):c.26A>C (p.Gln9Pro)
NM_001103.4(ACTN2):c.274A>G (p.Met92Val) rs1658300725
NM_001103.4(ACTN2):c.277C>A (p.Arg93=)
NM_001103.4(ACTN2):c.282C>A (p.Phe94Leu)
NM_001103.4(ACTN2):c.283C>T (p.His95Tyr) rs2102894844
NM_001103.4(ACTN2):c.285C>T (p.His95=)
NM_001103.4(ACTN2):c.297T>G (p.Asn99Lys)
NM_001103.4(ACTN2):c.303C>A (p.Asn101Lys)
NM_001103.4(ACTN2):c.303C>T (p.Asn101=)
NM_001103.4(ACTN2):c.30C>T (p.Tyr10=) rs2102851277
NM_001103.4(ACTN2):c.318C>T (p.Tyr106=) rs973145308
NM_001103.4(ACTN2):c.31A>C (p.Asn11His) rs886046205
NM_001103.4(ACTN2):c.320T>C (p.Ile107Thr)
NM_001103.4(ACTN2):c.322G>A (p.Ala108Thr)
NM_001103.4(ACTN2):c.325A>G (p.Ser109Gly) rs1658302140
NM_001103.4(ACTN2):c.329A>T (p.Lys110Ile)
NM_001103.4(ACTN2):c.332G>T (p.Gly111Val) rs786204949
NM_001103.4(ACTN2):c.333G>A (p.Gly111=)
NM_001103.4(ACTN2):c.335T>A (p.Val112Glu) rs1658302587
NM_001103.4(ACTN2):c.340C>T (p.Leu114=)
NM_001103.4(ACTN2):c.343G>A (p.Val115Met) rs397516579
NM_001103.4(ACTN2):c.350_351delinsCC (p.Ile117Thr) rs2102894975
NM_001103.4(ACTN2):c.352G>A (p.Gly118Ser) rs1131691370
NM_001103.4(ACTN2):c.353G>A (p.Gly118Asp) rs794728960
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr) rs727502886
NM_001103.4(ACTN2):c.35A>G (p.Tyr12Cys)
NM_001103.4(ACTN2):c.361+10G>A rs1572113545
NM_001103.4(ACTN2):c.361+16G>A
NM_001103.4(ACTN2):c.361+18T>C rs374362248
NM_001103.4(ACTN2):c.361+19G>A rs202213263
NM_001103.4(ACTN2):c.361+8GT[3]
NM_001103.4(ACTN2):c.362-16_362-13dup
NM_001103.4(ACTN2):c.362-19G>A
NM_001103.4(ACTN2):c.362-4G>A rs1014042332
NM_001103.4(ACTN2):c.362-5T>C
NM_001103.4(ACTN2):c.363A>G (p.Glu121=)
NM_001103.4(ACTN2):c.36C>T (p.Tyr12=) rs1302783639
NM_001103.4(ACTN2):c.383A>G (p.Lys128Arg)
NM_001103.4(ACTN2):c.403T>G (p.Trp135Gly) rs1060503684
NM_001103.4(ACTN2):c.414C>T (p.Ile138=) rs1572114654
NM_001103.4(ACTN2):c.415C>T (p.Leu139Phe) rs2102896567
NM_001103.4(ACTN2):c.418C>T (p.Arg140Cys) rs1131691439
NM_001103.4(ACTN2):c.423T>C (p.Phe141=)
NM_001103.4(ACTN2):c.425C>T (p.Ala142Val)
NM_001103.4(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001103.4(ACTN2):c.439T>C (p.Ser147Pro) rs886038915
NM_001103.4(ACTN2):c.43G>A (p.Asp15Asn)
NM_001103.4(ACTN2):c.442G>C (p.Val148Leu)
NM_001103.4(ACTN2):c.446A>G (p.Glu149Gly)
NM_001103.4(ACTN2):c.447A>C (p.Glu149Asp)
NM_001103.4(ACTN2):c.448+10A>G
NM_001103.4(ACTN2):c.448+11T>C
NM_001103.4(ACTN2):c.449-17C>G
NM_001103.4(ACTN2):c.449-19T>C rs1404915702
NM_001103.4(ACTN2):c.449-3_449-2insTTCT
NM_001103.4(ACTN2):c.449-7A>G
NM_001103.4(ACTN2):c.458C>T (p.Ala153Val)
NM_001103.4(ACTN2):c.464A>C (p.Glu155Ala) rs1658537536
NM_001103.4(ACTN2):c.46G>A (p.Glu16Lys)
NM_001103.4(ACTN2):c.472C>T (p.Leu158=) rs892147948
NM_001103.4(ACTN2):c.492A>G (p.Lys164=) rs2102904298
NM_001103.4(ACTN2):c.496G>C (p.Ala166Pro) rs794728961
NM_001103.4(ACTN2):c.498T>C (p.Ala166=)
NM_001103.4(ACTN2):c.49dup (p.Asp17fs)
NM_001103.4(ACTN2):c.501T>C (p.Pro167=) rs1658537995
NM_001103.4(ACTN2):c.504T>C (p.Tyr168=)
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.4(ACTN2):c.510T>A (p.Asn170Lys)
NM_001103.4(ACTN2):c.510T>C (p.Asn170=) rs1572120135
NM_001103.4(ACTN2):c.528C>T (p.Phe176=) rs2102904360
NM_001103.4(ACTN2):c.533C>G (p.Thr178Ser) rs1176106230
NM_001103.4(ACTN2):c.534T>G (p.Thr178=) rs1572120178
NM_001103.4(ACTN2):c.536+15C>T rs2102904399
NM_001103.4(ACTN2):c.536+16C>T
NM_001103.4(ACTN2):c.536+17C>T
NM_001103.4(ACTN2):c.536+6C>T rs771398006
NM_001103.4(ACTN2):c.536+8C>A
NM_001103.4(ACTN2):c.537-11C>G
NM_001103.4(ACTN2):c.537-11_537-3del
NM_001103.4(ACTN2):c.537-13G>A
NM_001103.4(ACTN2):c.537-15T>C rs2102906416
NM_001103.4(ACTN2):c.537-1G>A rs1572121782
NM_001103.4(ACTN2):c.537-3A>T rs2102906436
NM_001103.4(ACTN2):c.537-6G>A
NM_001103.4(ACTN2):c.538T>C (p.Trp180Arg) rs1558236027
NM_001103.4(ACTN2):c.539G>A (p.Trp180Ter)
NM_001103.4(ACTN2):c.53A>C (p.Glu18Ala) rs1237522987
NM_001103.4(ACTN2):c.547G>T (p.Gly183Cys)
NM_001103.4(ACTN2):c.549C>T (p.Gly183=) rs1060504997
NM_001103.4(ACTN2):c.556C>G (p.Leu186Val) rs371930065
NM_001103.4(ACTN2):c.557T>C (p.Leu186Pro) rs1658594390
NM_001103.4(ACTN2):c.565C>T (p.Leu189Phe)
NM_001103.4(ACTN2):c.569T>G (p.Ile190Ser)
NM_001103.4(ACTN2):c.56A>G (p.Tyr19Cys)
NM_001103.4(ACTN2):c.570C>T (p.Ile190=) rs762515240
NM_001103.4(ACTN2):c.572A>G (p.His191Arg)
NM_001103.4(ACTN2):c.573C>A (p.His191Gln) rs1572121844
NM_001103.4(ACTN2):c.582G>T (p.Arg194=) rs767283256
NM_001103.4(ACTN2):c.589C>T (p.Leu197Phe) rs760937883
NM_001103.4(ACTN2):c.593T>C (p.Ile198Thr) rs1658596173
NM_001103.4(ACTN2):c.601T>C (p.Ser201Pro) rs1060503687
NM_001103.4(ACTN2):c.608T>A (p.Leu203His)
NM_001103.4(ACTN2):c.615+13G>A
NM_001103.4(ACTN2):c.615+1G>C rs2102906595
NM_001103.4(ACTN2):c.615+4_615+6del
NM_001103.4(ACTN2):c.616-15T>C
NM_001103.4(ACTN2):c.616-6A>T
NM_001103.4(ACTN2):c.616G>T (p.Asp206Tyr) rs1658704139
NM_001103.4(ACTN2):c.617A>G (p.Asp206Gly) rs148048699
NM_001103.4(ACTN2):c.619G>T (p.Asp207Tyr)
NM_001103.4(ACTN2):c.636T>C (p.Ile212=)
NM_001103.4(ACTN2):c.639C>A (p.Asn213Lys) rs1188575946
NM_001103.4(ACTN2):c.646A>T (p.Met216Leu)
NM_001103.4(ACTN2):c.64C>T (p.Gln22Ter) rs1553295414
NM_001103.4(ACTN2):c.655G>A (p.Ala219Thr) rs1246542277
NM_001103.4(ACTN2):c.65A>G (p.Gln22Arg)
NM_001103.4(ACTN2):c.65A>T (p.Gln22Leu) rs1057518609
NM_001103.4(ACTN2):c.667C>T (p.Leu223=) rs778336485
NM_001103.4(ACTN2):c.669G>T (p.Leu223=)
NM_001103.4(ACTN2):c.674T>C (p.Ile225Thr)
NM_001103.4(ACTN2):c.674T>G (p.Ile225Ser) rs1553301462
NM_001103.4(ACTN2):c.67G>C (p.Glu23Gln)
NM_001103.4(ACTN2):c.686T>G (p.Leu229Trp) rs141793230
NM_001103.4(ACTN2):c.697+13T>C
NM_001103.4(ACTN2):c.697+1G>A rs113669376
NM_001103.4(ACTN2):c.697G>A (p.Asp233Asn) rs904672923
NM_001103.4(ACTN2):c.698-10_1107+10del
NM_001103.4(ACTN2):c.698-11_698-10delinsAA
NM_001103.4(ACTN2):c.698-13T>C
NM_001103.4(ACTN2):c.698-6C>T
NM_001103.4(ACTN2):c.698-6del rs2102916892
NM_001103.4(ACTN2):c.698-7C>T
NM_001103.4(ACTN2):c.698-8C>T
NM_001103.4(ACTN2):c.6C>G (p.Asn2Lys)
NM_001103.4(ACTN2):c.700A>G (p.Ile234Val) rs794728963
NM_001103.4(ACTN2):c.701T>A (p.Ile234Asn) rs2102916925
NM_001103.4(ACTN2):c.702C>T (p.Ile234=)
NM_001103.4(ACTN2):c.705G>A (p.Val235=) rs2288599
NM_001103.4(ACTN2):c.718_727del (p.Pro240fs) rs2102916959
NM_001103.4(ACTN2):c.721G>A (p.Asp241Asn) rs1342620732
NM_001103.4(ACTN2):c.723T>C (p.Asp241=)
NM_001103.4(ACTN2):c.740C>T (p.Thr247Met) rs755492182
NM_001103.4(ACTN2):c.741G>T (p.Thr247=)
NM_001103.4(ACTN2):c.763G>A (p.Ala255Thr) rs1060503682
NM_001103.4(ACTN2):c.764C>T (p.Ala255Val)
NM_001103.4(ACTN2):c.770C>T (p.Ala257Val) rs759652494
NM_001103.4(ACTN2):c.771G>T (p.Ala257=) rs201545916
NM_001103.4(ACTN2):c.773G>T (p.Gly258Val)
NM_001103.4(ACTN2):c.778G>T (p.Glu260Ter)
NM_001103.4(ACTN2):c.782A>G (p.Gln261Arg)
NM_001103.4(ACTN2):c.783+10A>G rs751099532
NM_001103.4(ACTN2):c.783+11C>G
NM_001103.4(ACTN2):c.783+16C>G rs754416848
NM_001103.4(ACTN2):c.783+17del rs1658852830
NM_001103.4(ACTN2):c.783+18G>A
NM_001103.4(ACTN2):c.783+4C>T
NM_001103.4(ACTN2):c.783+7A>G rs2102917149
NM_001103.4(ACTN2):c.784-2A>G rs794728964
NM_001103.4(ACTN2):c.784-524del
NM_001103.4(ACTN2):c.784-9G>A rs2102919099
NM_001103.4(ACTN2):c.786C>T (p.Ala262=) rs201636760
NM_001103.4(ACTN2):c.787G>A (p.Glu263Lys)
NM_001103.4(ACTN2):c.791C>A (p.Thr264Lys)
NM_001103.4(ACTN2):c.792A>G (p.Thr264=)
NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) rs794728965
NM_001103.4(ACTN2):c.797C>A (p.Ala266Asp)
NM_001103.4(ACTN2):c.800A>G (p.Asn267Ser)
NM_001103.4(ACTN2):c.801C>G (p.Asn267Lys)
NM_001103.4(ACTN2):c.804G>A (p.Arg268=)
NM_001103.4(ACTN2):c.806T>C (p.Ile269Thr) rs2102919139
NM_001103.4(ACTN2):c.814G>T (p.Val272Phe) rs2102919141
NM_001103.4(ACTN2):c.819T>C (p.Leu273=) rs2102919152
NM_001103.4(ACTN2):c.826A>G (p.Asn276Asp) rs876657743
NM_001103.4(ACTN2):c.827A>T (p.Asn276Ile)
NM_001103.4(ACTN2):c.82C>T (p.Arg28Cys) rs730880040
NM_001103.4(ACTN2):c.834G>A (p.Glu278=) rs1658904821
NM_001103.4(ACTN2):c.836A>C (p.Asn279Thr)
NM_001103.4(ACTN2):c.842G>A (p.Arg281Lys) rs1022501985
NM_001103.4(ACTN2):c.857A>G (p.Tyr286Cys)
NM_001103.4(ACTN2):c.85G>A (p.Asp29Asn)
NM_001103.4(ACTN2):c.863G>A (p.Arg288Lys)
NM_001103.4(ACTN2):c.868G>A (p.Ala290Thr)
NM_001103.4(ACTN2):c.876+11C>T
NM_001103.4(ACTN2):c.876+14_876+21dup
NM_001103.4(ACTN2):c.876+17A>G
NM_001103.4(ACTN2):c.876+1G>A
NM_001103.4(ACTN2):c.876+6G>A rs1658906175
NM_001103.4(ACTN2):c.877-3C>A
NM_001103.4(ACTN2):c.877-3C>T rs1174167762
NM_001103.4(ACTN2):c.877-6G>C
NM_001103.4(ACTN2):c.877-9G>C
NM_001103.4(ACTN2):c.877C>A (p.Leu293Ile)
NM_001103.4(ACTN2):c.886T>G (p.Trp296Gly) rs2102922356
NM_001103.4(ACTN2):c.894T>C (p.Arg298=) rs2102922372
NM_001103.4(ACTN2):c.8A>G (p.Gln3Arg) rs1665879577
NM_001103.4(ACTN2):c.900G>A (p.Thr300=)
NM_001103.4(ACTN2):c.914A>C (p.Glu305Ala)
NM_001103.4(ACTN2):c.915G>A (p.Glu305=) rs2102922429
NM_001103.4(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001103.4(ACTN2):c.928G>A (p.Glu310Lys) rs1572132678
NM_001103.4(ACTN2):c.929A>G (p.Glu310Gly)
NM_001103.4(ACTN2):c.935C>T (p.Thr312Ile)
NM_001103.4(ACTN2):c.936C>G (p.Thr312=)
NM_001103.4(ACTN2):c.937A>G (p.Met313Val) rs754373136
NM_001103.4(ACTN2):c.937A>T (p.Met313Leu)
NM_001103.4(ACTN2):c.93C>A (p.Leu31=)
NM_001103.4(ACTN2):c.93C>T (p.Leu31=) rs397516586
NM_001103.4(ACTN2):c.941A>C (p.Gln314Pro) rs2102922490
NM_001103.4(ACTN2):c.944C>A (p.Ala315Asp) rs779193065
NM_001103.4(ACTN2):c.953A>T (p.Lys318Met) rs2102922515
NM_001103.4(ACTN2):c.959T>C (p.Leu320Pro)
NM_001103.4(ACTN2):c.964G>T (p.Asp322Tyr) rs1416760371
NM_001103.4(ACTN2):c.966C>T (p.Asp322=) rs1658998739
NM_001103.4(ACTN2):c.971G>C (p.Arg324Pro) rs1240148760
NM_001103.4(ACTN2):c.984G>C (p.Arg328=)
NM_001103.4(ACTN2):c.989A>T (p.His330Leu)
NM_001103.4(ACTN2):c.998C>G (p.Pro333Arg)
NM_001103.4(ACTN2):c.9G>T (p.Gln3His) rs1553295387

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