ClinVar Miner

List of variants in gene ACTN2 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 665
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.877-8C>G rs2288601 0.77958
NM_001103.4(ACTN2):c.*526T>C rs1803032 0.67316
NM_001103.4(ACTN2):c.*447C>G rs1051253 0.51370
NM_001103.4(ACTN2):c.*111A>G rs1051251 0.50750
NM_001103.4(ACTN2):c.*748A>G rs7522310 0.49528
NM_001103.4(ACTN2):c.*724G>C rs7532533 0.18973
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=) rs12063382 0.16345
NM_001103.4(ACTN2):c.*954G>A rs2153203 0.05552
NM_001103.4(ACTN2):c.*700A>G rs12733179 0.04737
NM_001103.4(ACTN2):c.1296G>A (p.Ala432=) rs35956798 0.04366
NM_001103.4(ACTN2):c.783+681G>A rs3768124 0.04082
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03463
NM_001103.4(ACTN2):c.1656+159G>A rs112529745 0.02922
NM_001103.4(ACTN2):c.*423A>G rs114880747 0.02581
NM_001103.4(ACTN2):c.-22C>T rs138279482 0.02321
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001103.4(ACTN2):c.1974+136C>T rs149269755 0.01630
NM_001103.4(ACTN2):c.784-157T>A rs79354622 0.01603
NM_001103.4(ACTN2):c.698-1009G>A rs75131881 0.01394
NM_001103.4(ACTN2):c.1255+95C>T rs78951895 0.01149
NM_001103.4(ACTN2):c.1515+221T>A rs74890470 0.01142
NM_001103.4(ACTN2):c.536+223G>A rs77599478 0.01107
NM_001103.4(ACTN2):c.127-271A>G rs112687055 0.01082
NM_001103.4(ACTN2):c.2368-25A>T rs113776296 0.01033
NM_001103.4(ACTN2):c.*1087G>A rs11801672 0.01019
NM_001103.4(ACTN2):c.784-45A>G rs12086403 0.00920
NM_001103.4(ACTN2):c.1256-115C>G rs75321354 0.00788
NM_001103.4(ACTN2):c.783+578T>C rs145866968 0.00689
NM_001103.4(ACTN2):c.1840-211T>C rs192924545 0.00630
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_001103.4(ACTN2):c.1657-204G>A rs115709068 0.00561
NM_001103.4(ACTN2):c.870G>A (p.Ala290=) rs116464082 0.00506
NM_001103.4(ACTN2):c.2368-310C>T rs114605512 0.00493
NM_001103.4(ACTN2):c.1108-247T>C rs181146815 0.00478
NM_001103.4(ACTN2):c.*46C>T rs74146254 0.00460
NM_001103.4(ACTN2):c.1255+281T>C rs75192899 0.00460
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_001103.4(ACTN2):c.2368-169C>A rs111935712 0.00396
NM_001103.4(ACTN2):c.1407-335A>G rs79683418 0.00353
NM_001103.4(ACTN2):c.1932C>A (p.Ala644=) rs144680712 0.00314
NM_001103.4(ACTN2):c.2301+66G>T rs115838741 0.00310
NM_001103.4(ACTN2):c.1108-301G>T rs143711730 0.00309
NM_001103.4(ACTN2):c.1974+60G>A rs114244088 0.00269
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.*1040G>A rs190412319 0.00167
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.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.2155-31A>G rs199568000 0.00067
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.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.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.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.1698C>T (p.Pro566=) rs148961019 0.00006
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=) rs137890030 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.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.2527-19C>T rs765325935 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.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.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.-18C>A rs367979371 0.00003
NM_001103.4(ACTN2):c.-3G>T rs201920417 0.00003
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.1255+15G>A rs752986074 0.00003
NM_001103.4(ACTN2):c.1287C>T (p.Tyr429=) rs764881077 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.1589A>G (p.Asn530Ser) rs1384783399 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.1984C>T (p.Arg662Trp) rs150021739 0.00003
NM_001103.4(ACTN2):c.2003C>G (p.Thr668Arg) rs397516572 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.2676C>T (p.Ser892=) rs397516578 0.00003
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr) rs770368711 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.1057C>T (p.Arg353Trp) rs1150181 0.00002
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val) rs368409665 0.00002
NM_001103.4(ACTN2):c.1108-5C>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.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.1657-19A>G rs1182422103 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.1974+11G>A rs567601447 0.00002
NM_001103.4(ACTN2):c.1980T>A (p.Ile660=) rs1324637027 0.00002
NM_001103.4(ACTN2):c.2108A>T (p.Gln703Leu) rs370862426 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.419G>A (p.Arg140His) rs370689695 0.00002
NM_001103.4(ACTN2):c.537-11C>T rs367744285 0.00002
NM_001103.4(ACTN2):c.66G>A (p.Gln22=) rs761544833 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.771G>A (p.Ala257=) rs201545916 0.00002
NM_001103.4(ACTN2):c.784-525G>A rs1040815384 0.00002
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys) rs779109533 0.00002
NM_001103.4(ACTN2):c.-43C>G rs200003968 0.00001
NM_001103.4(ACTN2):c.1031A>G (p.Asn344Ser) rs886046206 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.1145A>G (p.Glu382Gly) rs766953315 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.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.1305A>G (p.Thr435=) rs12043223 0.00001
NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp) rs563171274 0.00001
NM_001103.4(ACTN2):c.1323G>A (p.Leu441=) rs886039127 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.1347C>T (p.Ser449=) rs796733553 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.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.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.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.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.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+16C>T rs1659326562 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.1691C>T (p.Thr564Met) rs876661341 0.00001
NM_001103.4(ACTN2):c.1693C>T (p.Leu565=) rs546293678 0.00001
NM_001103.4(ACTN2):c.1707C>T (p.Asp569=) rs773915011 0.00001
NM_001103.4(ACTN2):c.1803T>C (p.Thr601=) rs1289087755 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.1892G>A (p.Arg631His) rs370908799 0.00001
NM_001103.4(ACTN2):c.1905C>T (p.Asn635=) rs772586220 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.1948G>C (p.Gly650Arg) rs1173244523 0.00001
NM_001103.4(ACTN2):c.1975-5C>G rs369148572 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.2157C>T (p.His719=) rs527771492 0.00001
NM_001103.4(ACTN2):c.2205C>A (p.Ile735=) rs757083123 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.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.241+8T>C rs772934028 0.00001
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg) rs769239899 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.2475C>T (p.Thr825=) rs758805815 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.2573A>C (p.Gln858Pro) rs769940120 0.00001
NM_001103.4(ACTN2):c.2594G>C (p.Arg865Thr) rs752937110 0.00001
NM_001103.4(ACTN2):c.2644G>A (p.Ala882Thr) rs747843638 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.362-13T>G rs1472701882 0.00001
NM_001103.4(ACTN2):c.375C>A (p.Gly125=) rs781385336 0.00001
NM_001103.4(ACTN2):c.440C>T (p.Ser147Leu) rs749667083 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.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.575G>A (p.Arg192Gln) rs200316891 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.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.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.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_000001.11:g.236686477C>A rs980228032
NM_001103.4(ACTN2):c.-98CGCCGCC[2] rs552471202
NM_001103.4(ACTN2):c.1005G>A (p.Val335=)
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.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.1062C>T (p.Ile354=)
NM_001103.4(ACTN2):c.1089C>G (p.Ser363=)
NM_001103.4(ACTN2):c.1098G>C (p.Lys366Asn) rs1243320734
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+7A>G rs1394794170
NM_001103.4(ACTN2):c.1108-20T>G
NM_001103.4(ACTN2):c.1108-230C>T rs150572226
NM_001103.4(ACTN2):c.1115C>G (p.Ala372Gly)
NM_001103.4(ACTN2):c.1130G>A (p.Arg377Lys) rs1325419598
NM_001103.4(ACTN2):c.1149G>A (p.Lys383=)
NM_001103.4(ACTN2):c.1161G>A (p.Glu387=) rs1488282189
NM_001103.4(ACTN2):c.1165T>C (p.Leu389=)
NM_001103.4(ACTN2):c.1176G>A (p.Glu392=)
NM_001103.4(ACTN2):c.1212G>A (p.Glu404=)
NM_001103.4(ACTN2):c.1215G>A (p.Lys405=) rs1057522332
NM_001103.4(ACTN2):c.1239C>T (p.His413=) rs771579640
NM_001103.4(ACTN2):c.1245T>G (p.Thr415=)
NM_001103.4(ACTN2):c.1255+8G>T rs1422637812
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.1256-4G>A
NM_001103.4(ACTN2):c.1256-9C>A
NM_001103.4(ACTN2):c.126+13C>G rs1440134547
NM_001103.4(ACTN2):c.126+21_126+56del rs1430117043
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.1278G>A (p.Gln426=) rs397516565
NM_001103.4(ACTN2):c.1296_1298delinsATT (p.Ser433Leu)
NM_001103.4(ACTN2):c.1302G>T (p.Leu434=) rs2102929881
NM_001103.4(ACTN2):c.1311G>A (p.Val437=) rs886038902
NM_001103.4(ACTN2):c.1335G>A (p.Glu445=)
NM_001103.4(ACTN2):c.1342G>C (p.Glu448Gln) rs764031568
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.1371C>G (p.Arg457=) rs114008185
NM_001103.4(ACTN2):c.1377G>A (p.Glu459=)
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+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.1416C>T (p.Asp472=)
NM_001103.4(ACTN2):c.1420C>T (p.His474Tyr) rs1246910938
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.1444C>A (p.Arg482=)
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.1485G>C (p.Thr495=)
NM_001103.4(ACTN2):c.1498A>C (p.Arg500=) rs1659280898
NM_001103.4(ACTN2):c.1510C>T (p.Leu504=) rs2102934712
NM_001103.4(ACTN2):c.1512A>G (p.Leu504=) rs2102934725
NM_001103.4(ACTN2):c.1516-10T>C rs1572141263
NM_001103.4(ACTN2):c.1524G>A (p.Glu508=) rs772606052
NM_001103.4(ACTN2):c.1533A>G (p.Leu511=)
NM_001103.4(ACTN2):c.153C>T (p.His51=) rs1057523501
NM_001103.4(ACTN2):c.1557G>A (p.Leu519=) rs1057523732
NM_001103.4(ACTN2):c.1566C>T (p.Ala522=) rs1060504996
NM_001103.4(ACTN2):c.156A>T (p.Leu52=)
NM_001103.4(ACTN2):c.1578T>C (p.Ala526=) rs1037951773
NM_001103.4(ACTN2):c.1587C>T (p.Asn529=)
NM_001103.4(ACTN2):c.1599G>A (p.Glu533=)
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.1615C>T (p.Leu539=) rs2102936547
NM_001103.4(ACTN2):c.1623T>C (p.Asp541=)
NM_001103.4(ACTN2):c.1625T>C (p.Met542Thr) rs778713804
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+20_1656+21del
NM_001103.4(ACTN2):c.1657-19A>C rs1182422103
NM_001103.4(ACTN2):c.1657-29_1657-26del rs140875513
NM_001103.4(ACTN2):c.1657-3dup
NM_001103.4(ACTN2):c.1657-6G>A rs1328857189
NM_001103.4(ACTN2):c.1665C>T (p.Ile555=)
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.1692G>A (p.Thr564=) rs1384379468
NM_001103.4(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.4(ACTN2):c.1704G>T (p.Ala568=)
NM_001103.4(ACTN2):c.1710A>C (p.Gly570=)
NM_001103.4(ACTN2):c.1716G>A (p.Arg572=) rs1248687374
NM_001103.4(ACTN2):c.1719G>A (p.Gln573=) rs763585604
NM_001103.4(ACTN2):c.171C>A (p.Thr57=)
NM_001103.4(ACTN2):c.1727T>C (p.Met576Thr) rs1572143354
NM_001103.4(ACTN2):c.1738A>G (p.Asn580Asp)
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.1749G>A (p.Glu583=) rs748367953
NM_001103.4(ACTN2):c.1761G>A (p.Gln587=) rs770066690
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.1778T>C (p.Ile593Thr)
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.1818G>A (p.Glu606=)
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+256T>C rs150715956
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.1842G>C (p.Val614=)
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.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.1890T>A (p.Ala630=)
NM_001103.4(ACTN2):c.1893C>A (p.Arg631=)
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.1969A>T (p.Met657Leu)
NM_001103.4(ACTN2):c.1974+12C>T
NM_001103.4(ACTN2):c.1974+13C>T rs758836174
NM_001103.4(ACTN2):c.1974+14C>T rs1659481365
NM_001103.4(ACTN2):c.1974+20G>T
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.1975-5C>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.1982C>T (p.Ala661Val)
NM_001103.4(ACTN2):c.2001C>T (p.Ile667=)
NM_001103.4(ACTN2):c.2007A>C (p.Gly669=) rs1572146383
NM_001103.4(ACTN2):c.2010C>T (p.Ala670=)
NM_001103.4(ACTN2):c.2016A>G (p.Glu672=)
NM_001103.4(ACTN2):c.2036A>G (p.Lys679Arg)
NM_001103.4(ACTN2):c.2040G>A (p.Gln680=)
NM_001103.4(ACTN2):c.2051A>T (p.Asn684Ile) rs576783493
NM_001103.4(ACTN2):c.2056A>G (p.Ile686Val)
NM_001103.4(ACTN2):c.2085G>A (p.Leu695=)
NM_001103.4(ACTN2):c.2088G>A (p.Glu696=)
NM_001103.4(ACTN2):c.2106C>A (p.Ile702=)
NM_001103.4(ACTN2):c.2112G>A (p.Glu704=) rs544721025
NM_001103.4(ACTN2):c.2127C>T (p.Asp709=) rs556612523
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+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.2155-322T>G rs12060067
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.216C>A (p.Leu72=) rs1572112476
NM_001103.4(ACTN2):c.216C>G (p.Leu72=)
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.2211G>T (p.Glu737Asp)
NM_001103.4(ACTN2):c.2214G>A (p.Val738=)
NM_001103.4(ACTN2):c.2227C>T (p.Leu743=) rs1321954523
NM_001103.4(ACTN2):c.2232G>T (p.Thr744=)
NM_001103.4(ACTN2):c.2241G>T (p.Ala747=)
NM_001103.4(ACTN2):c.2264T>C (p.Met755Thr)
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+7C>G rs2102947215
NM_001103.4(ACTN2):c.2302-18del
NM_001103.4(ACTN2):c.2302-9T>C
NM_001103.4(ACTN2):c.2304G>A (p.Arg768=)
NM_001103.4(ACTN2):c.2316G>A (p.Leu772=)
NM_001103.4(ACTN2):c.231A>G (p.Glu77=)
NM_001103.4(ACTN2):c.2324A>T (p.His775Leu) rs147616930
NM_001103.4(ACTN2):c.2325T>C (p.His775=)
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.2367+109G>A rs115264842
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.2368-8T>C
NM_001103.4(ACTN2):c.2388C>T (p.Arg796=)
NM_001103.4(ACTN2):c.241+12A>G
NM_001103.4(ACTN2):c.241+16C>T
NM_001103.4(ACTN2):c.241+18C>T
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.242-4A>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.2427C>A (p.Val809=)
NM_001103.4(ACTN2):c.2430C>A (p.Thr810=)
NM_001103.4(ACTN2):c.2439C>T (p.Ser813=) rs1659693123
NM_001103.4(ACTN2):c.2463G>A (p.Glu821=)
NM_001103.4(ACTN2):c.2466G>A (p.Thr822=) rs746365850
NM_001103.4(ACTN2):c.2484C>G (p.Ala828=)
NM_001103.4(ACTN2):c.2506C>A (p.Arg836=) rs727502887
NM_001103.4(ACTN2):c.2506C>T (p.Arg836Trp)
NM_001103.4(ACTN2):c.2508G>A (p.Arg836=) rs2102951896
NM_001103.4(ACTN2):c.2520T>C (p.Ser840=)
NM_001103.4(ACTN2):c.2526+7A>G
NM_001103.4(ACTN2):c.2527-17T>A rs977332742
NM_001103.4(ACTN2):c.255C>G (p.Pro85=)
NM_001103.4(ACTN2):c.2577C>G (p.Ala859=)
NM_001103.4(ACTN2):c.2577C>T (p.Ala859=) rs193922636
NM_001103.4(ACTN2):c.2586C>T (p.Cys862=)
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.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.285C>T (p.His95=)
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.324C>A (p.Ala108=) rs727502885
NM_001103.4(ACTN2):c.333G>A (p.Gly111=)
NM_001103.4(ACTN2):c.340C>T (p.Leu114=)
NM_001103.4(ACTN2):c.361+10G>A rs1572113545
NM_001103.4(ACTN2):c.361+18T>C rs374362248
NM_001103.4(ACTN2):c.361+19G>A rs202213263
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.414C>T (p.Ile138=) rs1572114654
NM_001103.4(ACTN2):c.423T>C (p.Phe141=)
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.449-7A>G
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.498T>C (p.Ala166=)
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>C (p.Asn170=) rs1572120135
NM_001103.4(ACTN2):c.528C>T (p.Phe176=) rs2102904360
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+8C>A
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.537-6G>A
NM_001103.4(ACTN2):c.537-9G>C
NM_001103.4(ACTN2):c.549C>T (p.Gly183=) rs1060504997
NM_001103.4(ACTN2):c.570C>T (p.Ile190=) rs762515240
NM_001103.4(ACTN2):c.582G>T (p.Arg194=) rs767283256
NM_001103.4(ACTN2):c.615+13G>A
NM_001103.4(ACTN2):c.616-15T>C
NM_001103.4(ACTN2):c.616-6A>T
NM_001103.4(ACTN2):c.630A>G (p.Gly210=)
NM_001103.4(ACTN2):c.636T>C (p.Ile212=)
NM_001103.4(ACTN2):c.667C>T (p.Leu223=) rs778336485
NM_001103.4(ACTN2):c.669G>T (p.Leu223=)
NM_001103.4(ACTN2):c.697+13T>C
NM_001103.4(ACTN2):c.698-1180C>T
NM_001103.4(ACTN2):c.698-13T>C
NM_001103.4(ACTN2):c.698-6C>T
NM_001103.4(ACTN2):c.698-7C>T
NM_001103.4(ACTN2):c.698-8C>T
NM_001103.4(ACTN2):c.702C>T (p.Ile234=)
NM_001103.4(ACTN2):c.705G>A (p.Val235=) rs2288599
NM_001103.4(ACTN2):c.711C>G (p.Thr237=)
NM_001103.4(ACTN2):c.711C>T (p.Thr237=)
NM_001103.4(ACTN2):c.723T>C (p.Asp241=)
NM_001103.4(ACTN2):c.741G>T (p.Thr247=)
NM_001103.4(ACTN2):c.771G>T (p.Ala257=) rs201545916
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+7A>G rs2102917149
NM_001103.4(ACTN2):c.784-472A>C
NM_001103.4(ACTN2):c.784-493T>C rs1658885457
NM_001103.4(ACTN2):c.784-522C>T
NM_001103.4(ACTN2):c.784-9G>A rs2102919099
NM_001103.4(ACTN2):c.786C>T (p.Ala262=) rs201636760
NM_001103.4(ACTN2):c.792A>G (p.Thr264=)
NM_001103.4(ACTN2):c.804G>A (p.Arg268=)
NM_001103.4(ACTN2):c.819T>C (p.Leu273=) rs2102919152
NM_001103.4(ACTN2):c.834G>A (p.Glu278=) rs1658904821
NM_001103.4(ACTN2):c.876+104_876+105insATATGTAT rs1428788821
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+40C>T rs148335592
NM_001103.4(ACTN2):c.877-8_877-6delinsGGA rs2102922339
NM_001103.4(ACTN2):c.877-9G>C
NM_001103.4(ACTN2):c.879T>G (p.Leu293=)
NM_001103.4(ACTN2):c.894T>C (p.Arg298=) rs2102922372
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.919C>A (p.Arg307=) rs752782663
NM_001103.4(ACTN2):c.921G>T (p.Arg307=)
NM_001103.4(ACTN2):c.930G>A (p.Glu310=) rs1658997403
NM_001103.4(ACTN2):c.936C>G (p.Thr312=)
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.966C>T (p.Asp322=) rs1658998739
NM_001103.4(ACTN2):c.984G>C (p.Arg328=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.