ClinVar Miner

List of variants in gene ACTN2

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Gene type:
ClinVar version:
Total variants: 525
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HGVS dbSNP
NC_000001.10:g.(?_236849954)_(236899988_?)dup
NC_000001.10:g.(?_236914750)_(236925939_?)del
NC_000001.11:g.236686164C>T
NC_000001.11:g.236735384del
NC_000001.11:g.236736600del
NM_001103.2:c.351T>C
NM_001103.2:c.378C>T
NM_001103.3(ACTN2):c.*1040G>A rs190412319
NM_001103.3(ACTN2):c.*1087G>A rs11801672
NM_001103.3(ACTN2):c.*1097G>A rs886046209
NM_001103.3(ACTN2):c.*1109C>T rs759273956
NM_001103.3(ACTN2):c.*111A>G rs1051251
NM_001103.3(ACTN2):c.*1253G>T rs886046210
NM_001103.3(ACTN2):c.*1273C>T rs886046211
NM_001103.3(ACTN2):c.*1274_*1275delCT rs771809993
NM_001103.3(ACTN2):c.*1288T>G rs886046212
NM_001103.3(ACTN2):c.*1301T>C rs886046213
NM_001103.3(ACTN2):c.*157C>T rs184479165
NM_001103.3(ACTN2):c.*1651G>T rs764609669
NM_001103.3(ACTN2):c.*286T>C rs190536248
NM_001103.3(ACTN2):c.*396G>A rs181994486
NM_001103.3(ACTN2):c.*3C>T rs1131691800
NM_001103.3(ACTN2):c.*423A>G rs114880747
NM_001103.3(ACTN2):c.*43A>C rs758068136
NM_001103.3(ACTN2):c.*447C>G rs1051253
NM_001103.3(ACTN2):c.*526T>C rs1803032
NM_001103.3(ACTN2):c.*700A>G rs12733179
NM_001103.3(ACTN2):c.*724G>C rs7532533
NM_001103.3(ACTN2):c.*748A>G rs7522310
NM_001103.3(ACTN2):c.*886T>G rs886046208
NM_001103.3(ACTN2):c.*954G>A rs2153203
NM_001103.3(ACTN2):c.-104C>A rs886046202
NM_001103.3(ACTN2):c.-159C>T rs886046201
NM_001103.3(ACTN2):c.-18C>A rs367979371
NM_001103.3(ACTN2):c.-22C>T rs138279482
NM_001103.3(ACTN2):c.-3G>T rs201920417
NM_001103.3(ACTN2):c.-43C>G rs200003968
NM_001103.3(ACTN2):c.-7G>A rs370646112
NM_001103.3(ACTN2):c.-98_-92CGCCGCC[2] rs552471202
NM_001103.3(ACTN2):c.-98_-92CGCCGCC[4] rs552471202
NM_001103.3(ACTN2):c.1031A>C (p.Asn344Thr) rs886046206
NM_001103.3(ACTN2):c.1031A>G (p.Asn344Ser) rs886046206
NM_001103.3(ACTN2):c.1040C>T (p.Thr347Met) rs727504590
NM_001103.3(ACTN2):c.1046A>T (p.Gln349Leu) rs376335356
NM_001103.3(ACTN2):c.1057C>T (p.Arg353Trp) rs1150181
NM_001103.3(ACTN2):c.1058G>A (p.Arg353Gln) rs780552939
NM_001103.3(ACTN2):c.1070G>A (p.Arg357His) rs730880041
NM_001103.3(ACTN2):c.1081A>G (p.Met361Val) rs368409665
NM_001103.3(ACTN2):c.1089C>T (p.Ser363=) rs397516562
NM_001103.3(ACTN2):c.1099A>G (p.Met367Val)
NM_001103.3(ACTN2):c.1104G>A (p.Val368=) rs397516563
NM_001103.3(ACTN2):c.1106C>T (p.Ser369Leu) rs747400815
NM_001103.3(ACTN2):c.1107+123T>C
NM_001103.3(ACTN2):c.1107+33A>C
NM_001103.3(ACTN2):c.1107+3G>A rs764249491
NM_001103.3(ACTN2):c.1107G>A (p.Ser369=) rs369218950
NM_001103.3(ACTN2):c.1108-10A>G rs397516564
NM_001103.3(ACTN2):c.1108-247T>C
NM_001103.3(ACTN2):c.1108-3C>T rs372488913
NM_001103.3(ACTN2):c.1108-5C>T rs369956166
NM_001103.3(ACTN2):c.1108G>A (p.Asp370Asn)
NM_001103.3(ACTN2):c.113A>G (p.Lys38Arg) rs376510300
NM_001103.3(ACTN2):c.1145A>G (p.Glu382Gly)
NM_001103.3(ACTN2):c.1155C>T (p.Tyr385=) rs532155333
NM_001103.3(ACTN2):c.1162T>A (p.Trp388Arg) rs376144003
NM_001103.3(ACTN2):c.1172A>G (p.Asn391Ser)
NM_001103.3(ACTN2):c.1180C>T (p.Arg394Trp) rs559395092
NM_001103.3(ACTN2):c.1181G>A (p.Arg394Gln) rs758358941
NM_001103.3(ACTN2):c.1192C>G (p.Arg398Gly) rs148189507
NM_001103.3(ACTN2):c.1192C>T (p.Arg398Cys) rs148189507
NM_001103.3(ACTN2):c.1193G>A (p.Arg398His) rs752906680
NM_001103.3(ACTN2):c.1210_1212delinsAAA (p.Glu404Lys) rs1558243133
NM_001103.3(ACTN2):c.1212G>T (p.Glu404Asp) rs1379352019
NM_001103.3(ACTN2):c.1215G>A (p.Lys405=) rs1057522332
NM_001103.3(ACTN2):c.1216T>G (p.Phe406Val)
NM_001103.3(ACTN2):c.1226A>G (p.Lys409Arg) rs863225115
NM_001103.3(ACTN2):c.122G>A (p.Arg41Lys) rs781746567
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
NM_001103.3(ACTN2):c.1236G>A (p.Thr412=) rs143566058
NM_001103.3(ACTN2):c.1240G>A (p.Glu414Lys) rs1558243189
NM_001103.3(ACTN2):c.1255+15G>A rs752986074
NM_001103.3(ACTN2):c.1255+321G>A
NM_001103.3(ACTN2):c.1255+6T>G
NM_001103.3(ACTN2):c.1255+95C>T
NM_001103.3(ACTN2):c.1255G>A (p.Gly419Ser) rs1164161500
NM_001103.3(ACTN2):c.1256-3C>T rs1553303028
NM_001103.3(ACTN2):c.1256-79G>A
NM_001103.3(ACTN2):c.1256-8C>T rs747638397
NM_001103.3(ACTN2):c.126+14C>T rs373269478
NM_001103.3(ACTN2):c.126+157A>G
NM_001103.3(ACTN2):c.126+15G>C rs745563404
NM_001103.3(ACTN2):c.126+331G>C
NM_001103.3(ACTN2):c.1263G>A (p.Glu421=) rs572642643
NM_001103.3(ACTN2):c.127-3C>A
NM_001103.3(ACTN2):c.1272G>A (p.Leu424=) rs1060504998
NM_001103.3(ACTN2):c.1278G>A (p.Gln426=) rs397516565
NM_001103.3(ACTN2):c.1287C>G (p.Tyr429Ter) rs764881077
NM_001103.3(ACTN2):c.1287C>T (p.Tyr429=) rs764881077
NM_001103.3(ACTN2):c.1288G>C (p.Glu430Gln) rs370865082
NM_001103.3(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886
NM_001103.3(ACTN2):c.1293G>A (p.Ser431=) rs144819985
NM_001103.3(ACTN2):c.1295C>T (p.Ala432Val) rs767291633
NM_001103.3(ACTN2):c.1296G>A (p.Ala432=) rs35956798
NM_001103.3(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154
NM_001103.3(ACTN2):c.1305A>G (p.Thr435=) rs12043223
NM_001103.3(ACTN2):c.1307A>C (p.Glu436Ala) rs199955427
NM_001103.3(ACTN2):c.1311G>A (p.Val437=) rs886038902
NM_001103.3(ACTN2):c.1312C>T (p.Arg438Trp) rs563171274
NM_001103.3(ACTN2):c.1323G>A (p.Leu441=) rs886039127
NM_001103.3(ACTN2):c.1324C>T (p.Arg442Trp)
NM_001103.3(ACTN2):c.1325G>A (p.Arg442Gln)
NM_001103.3(ACTN2):c.1330C>G (p.His444Asp) rs1064796600
NM_001103.3(ACTN2):c.1332C>T (p.His444=) rs373709019
NM_001103.3(ACTN2):c.1333G>A (p.Glu445Lys) rs773942709
NM_001103.3(ACTN2):c.1337C>T (p.Ala446Val)
NM_001103.3(ACTN2):c.1338G>A (p.Ala446=) rs397516566
NM_001103.3(ACTN2):c.1341C>T (p.Phe447=) rs34785693
NM_001103.3(ACTN2):c.1342G>A (p.Glu448Lys) rs764031568
NM_001103.3(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.3(ACTN2):c.1358C>G (p.Ala453Gly)
NM_001103.3(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.3(ACTN2):c.1361A>C (p.His454Pro) rs727505063
NM_001103.3(ACTN2):c.1369C>T (p.Arg457Cys) rs769126818
NM_001103.3(ACTN2):c.136G>T (p.Ala46Ser)
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1381A>G (p.Ile461Val) rs876657742
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1384G>T (p.Ala462Ser) rs376923220
NM_001103.3(ACTN2):c.1406+18C>T rs571362372
NM_001103.3(ACTN2):c.1406+8C>T rs397516567
NM_001103.3(ACTN2):c.1407-104T>C
NM_001103.3(ACTN2):c.1407-128A>G
NM_001103.3(ACTN2):c.1407-335A>G
NM_001103.3(ACTN2):c.1407-541_1446del
NM_001103.3(ACTN2):c.1411C>G (p.Leu471Val) rs397516568
NM_001103.3(ACTN2):c.1418A>G (p.Tyr473Cys)
NM_001103.3(ACTN2):c.1420C>T (p.His474Tyr)
NM_001103.3(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412
NM_001103.3(ACTN2):c.1425C>T (p.Asp475=) rs148223734
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.1426G>T (p.Ala476Ser) rs142943120
NM_001103.3(ACTN2):c.143G>C (p.Cys48Ser) rs794728959
NM_001103.3(ACTN2):c.1442A>G (p.Asp481Gly) rs1057518451
NM_001103.3(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001103.3(ACTN2):c.1445G>A (p.Arg482Gln) rs778023612
NM_001103.3(ACTN2):c.1447T>A (p.Cys483Ser) rs1553303424
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
NM_001103.3(ACTN2):c.1452G>C (p.Gln484His) rs200529923
NM_001103.3(ACTN2):c.1460G>T (p.Cys487Phe) rs727504619
NM_001103.3(ACTN2):c.1462G>T (p.Asp488Tyr) rs1553303427
NM_001103.3(ACTN2):c.1469G>A (p.Trp490Ter)
NM_001103.3(ACTN2):c.1476A>T (p.Arg492=) rs397516569
NM_001103.3(ACTN2):c.1484C>A (p.Thr495Lys) rs200248944
NM_001103.3(ACTN2):c.1484C>T (p.Thr495Met) rs200248944
NM_001103.3(ACTN2):c.1485G>A (p.Thr495=) rs201179281
NM_001103.3(ACTN2):c.1492C>T (p.Gln498Ter) rs1553303445
NM_001103.3(ACTN2):c.1508C>A (p.Ala503Asp)
NM_001103.3(ACTN2):c.1515+146G>T
NM_001103.3(ACTN2):c.1515+15C>T rs368107695
NM_001103.3(ACTN2):c.1515+221T>A
NM_001103.3(ACTN2):c.1515+268C>T
NM_001103.3(ACTN2):c.1515+47C>T
NM_001103.3(ACTN2):c.1516-138G>A
NM_001103.3(ACTN2):c.1516-205G>T
NM_001103.3(ACTN2):c.1519A>G (p.Met507Val) rs144553482
NM_001103.3(ACTN2):c.1524G>T (p.Glu508Asp) rs772606052
NM_001103.3(ACTN2):c.1532T>C (p.Leu511Pro) rs786205346
NM_001103.3(ACTN2):c.1538C>A (p.Thr513Asn) rs749178520
NM_001103.3(ACTN2):c.153C>T (p.His51=) rs1057523501
NM_001103.3(ACTN2):c.1547A>G (p.Gln516Arg) rs1272875116
NM_001103.3(ACTN2):c.1549C>T (p.Leu517Phe)
NM_001103.3(ACTN2):c.154C>T (p.Leu52=) rs199910162
NM_001103.3(ACTN2):c.1552C>T (p.His518Tyr) rs573836993
NM_001103.3(ACTN2):c.1557G>A (p.Leu519=) rs1057523732
NM_001103.3(ACTN2):c.1566C>T (p.Ala522=) rs1060504996
NM_001103.3(ACTN2):c.1586A>G (p.Asn529Ser) rs200143657
NM_001103.3(ACTN2):c.1593G>A (p.Trp531Ter) rs397516570
NM_001103.3(ACTN2):c.1594A>T (p.Met532Leu) rs200969588
NM_001103.3(ACTN2):c.1601G>T (p.Gly534Val) rs1060503685
NM_001103.3(ACTN2):c.1606A>C (p.Met536Leu)
NM_001103.3(ACTN2):c.1624A>G (p.Met542Val)
NM_001103.3(ACTN2):c.1625T>C (p.Met542Thr) rs778713804
NM_001103.3(ACTN2):c.1625T>G (p.Met542Arg) rs778713804
NM_001103.3(ACTN2):c.1656+12G>T rs768816601
NM_001103.3(ACTN2):c.1656+159G>A
NM_001103.3(ACTN2):c.1656+258C>T
NM_001103.3(ACTN2):c.1656+275A>G
NM_001103.3(ACTN2):c.1656+33A>G
NM_001103.3(ACTN2):c.1656+92G>T
NM_001103.3(ACTN2):c.1657-160G>C
NM_001103.3(ACTN2):c.1657-16T>C rs148194175
NM_001103.3(ACTN2):c.1657-194C>T
NM_001103.3(ACTN2):c.1657-204G>A
NM_001103.3(ACTN2):c.1658G>C (p.Ser553Thr) rs778767257
NM_001103.3(ACTN2):c.165C>T (p.Ala55=) rs193922634
NM_001103.3(ACTN2):c.166G>A (p.Gly56Ser) rs758034866
NM_001103.3(ACTN2):c.1670C>G (p.Ala557Gly) rs1389785784
NM_001103.3(ACTN2):c.1671G>A (p.Ala557=) rs772691130
NM_001103.3(ACTN2):c.1691C>T (p.Thr564Met) rs876661341
NM_001103.3(ACTN2):c.1693C>T (p.Leu565=) rs546293678
NM_001103.3(ACTN2):c.1698C>T (p.Pro566=) rs148961019
NM_001103.3(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.3(ACTN2):c.1708G>A (p.Gly570Arg) rs373132971
NM_001103.3(ACTN2):c.1714C>T (p.Arg572Trp) rs142142718
NM_001103.3(ACTN2):c.1719G>A (p.Gln573=) rs763585604
NM_001103.3(ACTN2):c.1723A>C (p.Ile575Leu) rs756815410
NM_001103.3(ACTN2):c.1740C>T (p.Asn580=) rs3738546
NM_001103.3(ACTN2):c.1745T>C (p.Val582Ala)
NM_001103.3(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005
NM_001103.3(ACTN2):c.1749G>A (p.Glu583=) rs748367953
NM_001103.3(ACTN2):c.1761G>A (p.Gln587=) rs770066690
NM_001103.3(ACTN2):c.1771A>G (p.Ile591Val) rs377650301
NM_001103.3(ACTN2):c.1773C>G (p.Ile591Met) rs771302220
NM_001103.3(ACTN2):c.1775G>T (p.Arg592Ile) rs774780856
NM_001103.3(ACTN2):c.1780A>G (p.Ser594Gly)
NM_001103.3(ACTN2):c.1793del (p.Pro598fs) rs1553303871
NM_001103.3(ACTN2):c.1794G>A (p.Pro598=) rs137890030
NM_001103.3(ACTN2):c.1797C>T (p.Tyr599=) rs1553303873
NM_001103.3(ACTN2):c.1799G>A (p.Ser600Asn) rs794728968
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.1822C>T (p.Arg608Trp) rs397516571
NM_001103.3(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004
NM_001103.3(ACTN2):c.1839+255G>A
NM_001103.3(ACTN2):c.1839+256T>C
NM_001103.3(ACTN2):c.1839+5G>C rs797045081
NM_001103.3(ACTN2):c.1840-10G>A rs1287403917
NM_001103.3(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803
NM_001103.3(ACTN2):c.186C>T (p.Ile62=) rs34403480
NM_001103.3(ACTN2):c.1883A>G (p.Glu628Gly) rs786204951
NM_001103.3(ACTN2):c.1892G>A (p.Arg631His) rs370908799
NM_001103.3(ACTN2):c.1899T>G (p.His633Gln) rs727505112
NM_001103.3(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.18C>T (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.1905C>A (p.Asn635Lys)
NM_001103.3(ACTN2):c.1906G>A (p.Glu636Lys) rs780431842
NM_001103.3(ACTN2):c.1918C>T (p.Arg640Cys) rs769453411
NM_001103.3(ACTN2):c.1919G>A (p.Arg640His) rs772909106
NM_001103.3(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600
NM_001103.3(ACTN2):c.1932C>A (p.Ala644=) rs144680712
NM_001103.3(ACTN2):c.193G>A (p.Asp65Asn)
NM_001103.3(ACTN2):c.1946T>C (p.Ile649Thr) rs150825710
NM_001103.3(ACTN2):c.1948G>A (p.Gly650Arg) rs1173244523
NM_001103.3(ACTN2):c.1948G>C (p.Gly650Arg) rs1173244523
NM_001103.3(ACTN2):c.1952C>T (p.Pro651Leu)
NM_001103.3(ACTN2):c.1972G>C (p.Glu658Gln) rs374135486
NM_001103.3(ACTN2):c.1974+10C>T rs368354944
NM_001103.3(ACTN2):c.1974+136C>T
NM_001103.3(ACTN2):c.1974+13C>T rs758836174
NM_001103.3(ACTN2):c.1975-12C>T rs371352710
NM_001103.3(ACTN2):c.1975-314T>C
NM_001103.3(ACTN2):c.1975-6C>A rs201255023
NM_001103.3(ACTN2):c.1975-6C>G rs201255023
NM_001103.3(ACTN2):c.1978A>T (p.Ile660Phe) rs768670466
NM_001103.3(ACTN2):c.1983C>T (p.Ala661=) rs372137571
NM_001103.3(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739
NM_001103.3(ACTN2):c.1985G>A (p.Arg662Gln) rs764931229
NM_001103.3(ACTN2):c.19G>A (p.Gly7Ser) rs1057523721
NM_001103.3(ACTN2):c.2003C>G (p.Thr668Arg) rs397516572
NM_001103.3(ACTN2):c.2051A>T (p.Asn684Ile) rs576783493
NM_001103.3(ACTN2):c.2052C>T (p.Asn684=) rs202135204
NM_001103.3(ACTN2):c.2054T>C (p.Ile685Thr) rs1057523250
NM_001103.3(ACTN2):c.2056A>C (p.Ile686Leu) rs534607483
NM_001103.3(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415
NM_001103.3(ACTN2):c.2075T>A (p.Ile692Asn) rs1553304459
NM_001103.3(ACTN2):c.2076C>T (p.Ile692=) rs144122893
NM_001103.3(ACTN2):c.2078A>G (p.Asp693Gly)
NM_001103.3(ACTN2):c.2082G>C (p.Lys694Asn) rs748034053
NM_001103.3(ACTN2):c.2100G>A (p.Gln700=) rs763184766
NM_001103.3(ACTN2):c.2108A>T (p.Gln703Leu) rs370862426
NM_001103.3(ACTN2):c.2127C>T (p.Asp709=) rs556612523
NM_001103.3(ACTN2):c.2138C>T (p.Thr713Met)
NM_001103.3(ACTN2):c.2139G>A (p.Thr713=) rs34975493
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001103.3(ACTN2):c.2148G>A (p.Thr716=) rs191631773
NM_001103.3(ACTN2):c.2154+19C>A rs1484623448
NM_001103.3(ACTN2):c.2154+4C>T rs1342624709
NM_001103.3(ACTN2):c.2154+5G>A
NM_001103.3(ACTN2):c.2155-10C>G rs1553304725
NM_001103.3(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837
NM_001103.3(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.3(ACTN2):c.2162G>C (p.Arg721Pro) rs546431200
NM_001103.3(ACTN2):c.2162G>T (p.Arg721Leu)
NM_001103.3(ACTN2):c.2181G>T (p.Leu727=) rs878854173
NM_001103.3(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290
NM_001103.3(ACTN2):c.2196C>T (p.Ala732=) rs1558250284
NM_001103.3(ACTN2):c.2201C>T (p.Thr734Ile) rs886046207
NM_001103.3(ACTN2):c.2210A>C (p.Glu737Ala) rs982200490
NM_001103.3(ACTN2):c.2231C>T (p.Thr744Met) rs765747662
NM_001103.3(ACTN2):c.2235A>G (p.Arg745=) rs141884271
NM_001103.3(ACTN2):c.2240C>T (p.Ala747Val) rs1060503686
NM_001103.3(ACTN2):c.2241G>A (p.Ala747=) rs767011628
NM_001103.3(ACTN2):c.2276G>C (p.Arg759Thr) rs786204950
NM_001103.3(ACTN2):c.2279C>T (p.Ala760Val)
NM_001103.3(ACTN2):c.2289C>G (p.Asn763Lys) rs745579917
NM_001103.3(ACTN2):c.22G>A (p.Val8Met)
NM_001103.3(ACTN2):c.2301+28A>G
NM_001103.3(ACTN2):c.2301+66G>T
NM_001103.3(ACTN2):c.2302-3C>A rs727505174
NM_001103.3(ACTN2):c.2306A>C (p.Lys769Thr) rs397516573
NM_001103.3(ACTN2):c.2323C>T (p.His775Tyr) rs370677725
NM_001103.3(ACTN2):c.2336G>A (p.Arg779Lys)
NM_001103.3(ACTN2):c.2356G>A (p.Gly786Ser)
NM_001103.3(ACTN2):c.2367+108C>T
NM_001103.3(ACTN2):c.2367+210A>G
NM_001103.3(ACTN2):c.2367+301C>A
NM_001103.3(ACTN2):c.2367+5G>A rs200469353
NM_001103.3(ACTN2):c.2367+8A>G rs112714025
NM_001103.3(ACTN2):c.2368-169C>A
NM_001103.3(ACTN2):c.2368-17T>C rs78961574
NM_001103.3(ACTN2):c.2368-5C>A
NM_001103.3(ACTN2):c.2376C>T (p.Ala792=) rs369320952
NM_001103.3(ACTN2):c.2377G>A (p.Glu793Lys) rs145450474
NM_001103.3(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574
NM_001103.3(ACTN2):c.2387G>T (p.Arg796Leu) rs772409484
NM_001103.3(ACTN2):c.241+131C>T
NM_001103.3(ACTN2):c.241+135T>C
NM_001103.3(ACTN2):c.241+302G>T
NM_001103.3(ACTN2):c.241+4G>A rs561826525
NM_001103.3(ACTN2):c.241+8T>C rs772934028
NM_001103.3(ACTN2):c.2412C>T (p.Asn804=) rs201700660
NM_001103.3(ACTN2):c.2416C>T (p.Gln806Ter) rs772733279
NM_001103.3(ACTN2):c.2419G>C (p.Gly807Arg) rs200282066
NM_001103.3(ACTN2):c.242-6C>T rs1057521158
NM_001103.3(ACTN2):c.242-84G>A
NM_001103.3(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.3(ACTN2):c.2424C>T (p.Thr808=) rs202204431
NM_001103.3(ACTN2):c.2436A>G (p.Gln812=) rs146445537
NM_001103.3(ACTN2):c.2437T>A (p.Ser813Thr) rs1553305106
NM_001103.3(ACTN2):c.2445C>T (p.Ile815=) rs397516575
NM_001103.3(ACTN2):c.2446G>A (p.Asp816Asn) rs1057522840
NM_001103.3(ACTN2):c.244G>A (p.Glu82Lys) rs139424431
NM_001103.3(ACTN2):c.2466G>A (p.Thr822=) rs746365850
NM_001103.3(ACTN2):c.2475C>T (p.Thr825=) rs758805815
NM_001103.3(ACTN2):c.2480C>G (p.Thr827Ser) rs1057524767
NM_001103.3(ACTN2):c.2484C>T (p.Ala828=) rs397516576
NM_001103.3(ACTN2):c.2485G>A (p.Glu829Lys) rs770335717
NM_001103.3(ACTN2):c.2485G>T (p.Glu829Ter) rs770335717
NM_001103.3(ACTN2):c.2496C>T (p.Ile832=) rs189019392
NM_001103.3(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335
NM_001103.3(ACTN2):c.2506C>A (p.Arg836=) rs727502887
NM_001103.3(ACTN2):c.250C>T (p.Leu84=) rs1558232391
NM_001103.3(ACTN2):c.2520del (p.Asp841fs) rs794728969
NM_001103.3(ACTN2):c.2526+33A>G
NM_001103.3(ACTN2):c.2526+8T>C rs760086675
NM_001103.3(ACTN2):c.2527-18G>A rs1486613146
NM_001103.3(ACTN2):c.2527-1G>A rs794728966
NM_001103.3(ACTN2):c.2530T>C (p.Tyr844His) rs1558252775
NM_001103.3(ACTN2):c.2539G>A (p.Ala847Thr) rs1064796605
NM_001103.3(ACTN2):c.253C>T (p.Pro85Ser) rs1558232396
NM_001103.3(ACTN2):c.2540C>T (p.Ala847Val)
NM_001103.3(ACTN2):c.2541G>A (p.Ala847=) rs374278766
NM_001103.3(ACTN2):c.2551C>T (p.Arg851Cys) rs141563497
NM_001103.3(ACTN2):c.2552G>A (p.Arg851His) rs201335965
NM_001103.3(ACTN2):c.2554C>T (p.Arg852Trp)
NM_001103.3(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888
NM_001103.3(ACTN2):c.2560C>T (p.Leu854=) rs370992948
NM_001103.3(ACTN2):c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT (p.Pro856fs) rs1553305275
NM_001103.3(ACTN2):c.2567C>T (p.Pro856Leu) rs375588211
NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) rs149554430
NM_001103.3(ACTN2):c.2569G>C (p.Asp857His) rs533267299
NM_001103.3(ACTN2):c.2573A>C (p.Gln858Pro) rs769940120
NM_001103.3(ACTN2):c.2576C>A (p.Ala859Asp)
NM_001103.3(ACTN2):c.2577C>T (p.Ala859=) rs193922636
NM_001103.3(ACTN2):c.2578C>T (p.Gln860Ter) rs763078071
NM_001103.3(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001103.3(ACTN2):c.2600C>T (p.Pro867Leu) rs1558252869
NM_001103.3(ACTN2):c.2601C>T (p.Pro867=) rs147245615
NM_001103.3(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260
NM_001103.3(ACTN2):c.2609C>T (p.Ser870Leu) rs368754823
NM_001103.3(ACTN2):c.2610G>A (p.Ser870=) rs12063382
NM_001103.3(ACTN2):c.2612G>T (p.Gly871Val) rs370341149
NM_001103.3(ACTN2):c.2619C>A (p.Gly873=) rs1060504995
NM_001103.3(ACTN2):c.2630dup (p.Ala878fs) rs1553305291
NM_001103.3(ACTN2):c.2631_2632del (p.Ala878fs) rs878854174
NM_001103.3(ACTN2):c.2643C>T (p.Tyr881=) rs727505177
NM_001103.3(ACTN2):c.2644G>A (p.Ala882Thr) rs747843638
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.2653T>C (p.Ser885Pro) rs863224691
NM_001103.3(ACTN2):c.2658C>T (p.Ser886=) rs143297401
NM_001103.3(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050
NM_001103.3(ACTN2):c.2667C>T (p.Tyr889=) rs560852363
NM_001103.3(ACTN2):c.2668G>A (p.Gly890Arg)
NM_001103.3(ACTN2):c.266G>A (p.Arg89Gln)
NM_001103.3(ACTN2):c.2676C>T (p.Ser892=) rs397516578
NM_001103.3(ACTN2):c.2677G>A (p.Asp893Asn) rs142646143
NM_001103.3(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001103.3(ACTN2):c.278G>A (p.Arg93Gln) rs777124854
NM_001103.3(ACTN2):c.31A>C (p.Asn11His) rs886046205
NM_001103.3(ACTN2):c.324C>A (p.Ala108=) rs727502885
NM_001103.3(ACTN2):c.331G>A (p.Gly111Arg) rs148628141
NM_001103.3(ACTN2):c.332G>T (p.Gly111Val) rs786204949
NM_001103.3(ACTN2):c.343G>A (p.Val115Met) rs397516579
NM_001103.3(ACTN2):c.351= (p.Ile117=) rs1341864
NM_001103.3(ACTN2):c.351C>T (p.Ile117=) rs1341864
NM_001103.3(ACTN2):c.352G>T (p.Gly118Cys) rs1131691370
NM_001103.3(ACTN2):c.353G>A (p.Gly118Asp) rs794728960
NM_001103.3(ACTN2):c.354C>T (p.Gly118=) rs539250948
NM_001103.3(ACTN2):c.355G>A (p.Ala119Thr) rs727502886
NM_001103.3(ACTN2):c.361+5G>C rs1553300073
NM_001103.3(ACTN2):c.361+96C>T
NM_001103.3(ACTN2):c.362-165T>C
NM_001103.3(ACTN2):c.362-244A>G
NM_001103.3(ACTN2):c.362-8A>C rs780432522
NM_001103.3(ACTN2):c.375C>T (p.Gly125=) rs781385336
NM_001103.3(ACTN2):c.378= (p.Asn126=) rs1341863
NM_001103.3(ACTN2):c.378T>C (p.Asn126=) rs1341863
NM_001103.3(ACTN2):c.401T>C (p.Ile134Thr) rs770368711
NM_001103.3(ACTN2):c.403T>G (p.Trp135Gly) rs1060503684
NM_001103.3(ACTN2):c.418C>T (p.Arg140Cys) rs1131691439
NM_001103.3(ACTN2):c.419G>A (p.Arg140His) rs370689695
NM_001103.3(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001103.3(ACTN2):c.431A>T (p.Gln144Leu)
NM_001103.3(ACTN2):c.439T>C (p.Ser147Pro) rs886038915
NM_001103.3(ACTN2):c.440C>T (p.Ser147Leu) rs749667083
NM_001103.3(ACTN2):c.441G>A (p.Ser147=) rs150182164
NM_001103.3(ACTN2):c.448+195G>T
NM_001103.3(ACTN2):c.448+73G>A
NM_001103.3(ACTN2):c.449-122G>C
NM_001103.3(ACTN2):c.48G>A (p.Glu16=) rs397516580
NM_001103.3(ACTN2):c.496G>C (p.Ala166Pro) rs794728961
NM_001103.3(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.3(ACTN2):c.508A>C (p.Asn170His)
NM_001103.3(ACTN2):c.509A>G (p.Asn170Ser) rs1057523249
NM_001103.3(ACTN2):c.517A>G (p.Ile173Val) rs749860792
NM_001103.3(ACTN2):c.536+10C>T rs141219516
NM_001103.3(ACTN2):c.536+223G>A
NM_001103.3(ACTN2):c.536+270G>A
NM_001103.3(ACTN2):c.536+6C>G rs771398006
NM_001103.3(ACTN2):c.537-14C>T rs577211083
NM_001103.3(ACTN2):c.537-16C>T rs1057521958
NM_001103.3(ACTN2):c.537-197A>G
NM_001103.3(ACTN2):c.537-1G>A
NM_001103.3(ACTN2):c.538T>C (p.Trp180Arg) rs1558236027
NM_001103.3(ACTN2):c.541A>G (p.Lys181Glu) rs779350391
NM_001103.3(ACTN2):c.546T>C (p.Asp182=) rs34263845
NM_001103.3(ACTN2):c.549C>T (p.Gly183=) rs1060504997
NM_001103.3(ACTN2):c.556C>G (p.Leu186Val) rs371930065
NM_001103.3(ACTN2):c.556C>T (p.Leu186Phe) rs371930065
NM_001103.3(ACTN2):c.573C>A (p.His191Gln)
NM_001103.3(ACTN2):c.574C>T (p.Arg192Ter)
NM_001103.3(ACTN2):c.575G>A (p.Arg192Gln) rs200316891
NM_001103.3(ACTN2):c.578_583del (p.191_192HR[1]) rs397516581
NM_001103.3(ACTN2):c.581G>A (p.Arg194Gln) rs528123945
NM_001103.3(ACTN2):c.601T>C (p.Ser201Pro) rs1060503687
NM_001103.3(ACTN2):c.615+15C>T rs369293885
NM_001103.3(ACTN2):c.616-3C>T rs111464645
NM_001103.3(ACTN2):c.620A>G (p.Asp207Gly) rs794728962
NM_001103.3(ACTN2):c.639C>A (p.Asn213Lys)
NM_001103.3(ACTN2):c.646A>G (p.Met216Val) rs749019847
NM_001103.3(ACTN2):c.64C>T (p.Gln22Ter) rs1553295414
NM_001103.3(ACTN2):c.655G>A (p.Ala219Thr) rs1246542277
NM_001103.3(ACTN2):c.65A>T (p.Gln22Leu) rs1057518609
NM_001103.3(ACTN2):c.667C>T (p.Leu223=) rs778336485
NM_001103.3(ACTN2):c.66G>A (p.Gln22=) rs761544833
NM_001103.3(ACTN2):c.674T>G (p.Ile225Ser) rs1553301462
NM_001103.3(ACTN2):c.683T>C (p.Met228Thr) rs786205144
NM_001103.3(ACTN2):c.686T>G (p.Leu229Trp) rs141793230
NM_001103.3(ACTN2):c.690T>A (p.Asp230Glu) rs139489232
NM_001103.3(ACTN2):c.697+1G>A rs113669376
NM_001103.3(ACTN2):c.697+33G>A
NM_001103.3(ACTN2):c.698-1009G>A
NM_001103.3(ACTN2):c.698-1068T>C
NM_001103.3(ACTN2):c.698-1179G>A
NM_001103.3(ACTN2):c.698-1302A>G
NM_001103.3(ACTN2):c.698-1428C>T
NM_001103.3(ACTN2):c.698-900T>C
NM_001103.3(ACTN2):c.700A>C (p.Ile234Leu) rs794728963
NM_001103.3(ACTN2):c.700A>G (p.Ile234Val) rs794728963
NM_001103.3(ACTN2):c.703G>A (p.Val235Met) rs754929573
NM_001103.3(ACTN2):c.705G>C (p.Val235=) rs2288599
NM_001103.3(ACTN2):c.706A>G (p.Asn236Asp) rs1193355360
NM_001103.3(ACTN2):c.736A>G (p.Met246Val) rs397516582
NM_001103.3(ACTN2):c.744C>T (p.Tyr248=) rs749565466
NM_001103.3(ACTN2):c.745G>A (p.Val249Ile) rs771260546
NM_001103.3(ACTN2):c.753C>T (p.Cys251=) rs397516583
NM_001103.3(ACTN2):c.762C>T (p.His254=) rs397516584
NM_001103.3(ACTN2):c.763G>A (p.Ala255Thr) rs1060503682
NM_001103.3(ACTN2):c.767T>C (p.Phe256Ser)
NM_001103.3(ACTN2):c.770C>T (p.Ala257Val) rs759652494
NM_001103.3(ACTN2):c.771G>A (p.Ala257=) rs201545916
NM_001103.3(ACTN2):c.774C>T (p.Gly258=)
NM_001103.3(ACTN2):c.775G>A (p.Ala259Thr) rs574401232
NM_001103.3(ACTN2):c.776C>T (p.Ala259Val) rs566552494
NM_001103.3(ACTN2):c.777G>A (p.Ala259=) rs764583678
NM_001103.3(ACTN2):c.783+17C>T rs780669106
NM_001103.3(ACTN2):c.783+22G>A rs2288600
NM_001103.3(ACTN2):c.784-2A>G rs794728964
NM_001103.3(ACTN2):c.784-404G>A
NM_001103.3(ACTN2):c.784-45A>G
NM_001103.3(ACTN2):c.786C>T (p.Ala262=) rs201636760
NM_001103.3(ACTN2):c.794C>T (p.Ala265Val) rs794728965
NM_001103.3(ACTN2):c.795G>A (p.Ala265=) rs757253639
NM_001103.3(ACTN2):c.826A>G (p.Asn276Asp) rs876657743
NM_001103.3(ACTN2):c.829C>G (p.Gln277Glu) rs1553302181
NM_001103.3(ACTN2):c.82C>T (p.Arg28Cys) rs730880040
NM_001103.3(ACTN2):c.870G>A (p.Ala290=) rs116464082
NM_001103.3(ACTN2):c.877-238C>T
NM_001103.3(ACTN2):c.877-42C>T
NM_001103.3(ACTN2):c.877-4G>A rs372070498
NM_001103.3(ACTN2):c.877-6G>A rs397516585
NM_001103.3(ACTN2):c.877-8= rs2288601
NM_001103.3(ACTN2):c.877-8C>G rs2288601
NM_001103.3(ACTN2):c.877-99T>C
NM_001103.3(ACTN2):c.892C>T (p.Arg298Cys) rs1060503683
NM_001103.3(ACTN2):c.893G>A (p.Arg298His) rs142482143
NM_001103.3(ACTN2):c.895C>T (p.Arg299Cys) rs779109533
NM_001103.3(ACTN2):c.896G>A (p.Arg299His) rs746677039
NM_001103.3(ACTN2):c.899C>T (p.Thr300Met) rs144025957
NM_001103.3(ACTN2):c.902T>A (p.Ile301Asn)
NM_001103.3(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001103.3(ACTN2):c.919C>A (p.Arg307=) rs752782663
NM_001103.3(ACTN2):c.920G>A (p.Arg307Gln) rs112882610
NM_001103.3(ACTN2):c.926C>T (p.Pro309Leu) rs146568303
NM_001103.3(ACTN2):c.927C>T (p.Pro309=) rs145411160
NM_001103.3(ACTN2):c.93C>T (p.Leu31=) rs397516586
NM_001103.3(ACTN2):c.947T>C (p.Met316Thr) rs370757762
NM_001103.3(ACTN2):c.950A>G (p.Gln317Arg)
NM_001103.3(ACTN2):c.959T>G (p.Leu320Arg) rs1407369744
NM_001103.3(ACTN2):c.969C>T (p.Phe323=) rs200247458
NM_001103.3(ACTN2):c.970C>T (p.Arg324Trp) rs747674727
NM_001103.3(ACTN2):c.979C>T (p.Arg327Cys) rs769485633
NM_001103.3(ACTN2):c.982C>T (p.Arg328Trp) rs770855273
NM_001103.3(ACTN2):c.983G>A (p.Arg328Gln) rs774046373
NM_001103.3(ACTN2):c.9G>T (p.Gln3His) rs1553295387

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