NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu)
|
rs747400815
|
0.00021
|
NM_001103.4(ACTN2):c.2367+5G>A
|
rs200469353
|
0.00014
|
NM_001103.4(ACTN2):c.2323C>T (p.His775Tyr)
|
rs370677725
|
0.00006
|
NM_001103.4(ACTN2):c.127-3C>A
|
rs368775036
|
0.00005
|
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr)
|
rs200854335
|
0.00005
|
NM_001103.4(ACTN2):c.1107G>A (p.Ser369=)
|
rs369218950
|
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.1658G>C (p.Ser553Thr)
|
rs778767257
|
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.2063A>G (p.Tyr688Cys)
|
rs145248415
|
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.1108-3C>T
|
rs372488913
|
0.00002
|
NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu)
|
rs200969588
|
0.00002
|
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys)
|
rs769453411
|
0.00002
|
NM_001103.4(ACTN2):c.2039A>G (p.Gln680Arg)
|
rs756567639
|
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.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.265C>T (p.Arg89Trp)
|
rs369629689
|
0.00002
|
NM_001103.4(ACTN2):c.536+6C>G
|
rs771398006
|
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.6C>A (p.Asn2Lys)
|
rs755508640
|
0.00002
|
NM_001103.4(ACTN2):c.703G>A (p.Val235Met)
|
rs754929573
|
0.00002
|
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser)
|
rs1337069615
|
0.00002
|
NM_001103.4(ACTN2):c.892C>T (p.Arg298Cys)
|
rs1060503683
|
0.00002
|
NM_001103.4(ACTN2):c.979C>T (p.Arg327Cys)
|
rs769485633
|
0.00002
|
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.1239C>G (p.His413Gln)
|
rs771579640
|
0.00001
|
NM_001103.4(ACTN2):c.12A>G (p.Ile4Met)
|
rs781720338
|
0.00001
|
NM_001103.4(ACTN2):c.1342G>A (p.Glu448Lys)
|
rs764031568
|
0.00001
|
NM_001103.4(ACTN2):c.1358C>G (p.Ala453Gly)
|
rs566860712
|
0.00001
|
NM_001103.4(ACTN2):c.136G>T (p.Ala46Ser)
|
rs1311487466
|
0.00001
|
NM_001103.4(ACTN2):c.1418A>G (p.Tyr473Cys)
|
rs957128342
|
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.1609G>A (p.Glu537Lys)
|
rs1401807611
|
0.00001
|
NM_001103.4(ACTN2):c.1626G>A (p.Met542Ile)
|
rs1193302872
|
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.1891C>T (p.Arg631Cys)
|
rs1446087607
|
0.00001
|
NM_001103.4(ACTN2):c.1906G>A (p.Glu636Lys)
|
rs780431842
|
0.00001
|
NM_001103.4(ACTN2):c.1945A>G (p.Ile649Val)
|
rs759422747
|
0.00001
|
NM_001103.4(ACTN2):c.1952C>T (p.Pro651Leu)
|
rs752552408
|
0.00001
|
NM_001103.4(ACTN2):c.1978A>T (p.Ile660Phe)
|
rs768670466
|
0.00001
|
NM_001103.4(ACTN2):c.19G>A (p.Gly7Ser)
|
rs1057523721
|
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.2210A>C (p.Glu737Ala)
|
rs982200490
|
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.242-3C>T
|
rs770703958
|
0.00001
|
NM_001103.4(ACTN2):c.244G>A (p.Glu82Lys)
|
rs139424431
|
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.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.2671G>T (p.Glu891Ter)
|
rs1177830945
|
0.00001
|
NM_001103.4(ACTN2):c.32A>G (p.Asn11Ser)
|
rs1449856891
|
0.00001
|
NM_001103.4(ACTN2):c.427A>C (p.Ile143Leu)
|
rs786205453
|
0.00001
|
NM_001103.4(ACTN2):c.550C>T (p.Leu184Phe)
|
rs1405476528
|
0.00001
|
NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter)
|
rs1253211384
|
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.706A>G (p.Asn236Asp)
|
rs1193355360
|
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.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
|
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.(?_236849954)_(237205889_?)dup
|
|
|
NC_000001.10:g.(?_236849954)_(237551503_?)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.1009G>A (p.Glu337Lys)
|
rs760884869
|
|
NM_001103.4(ACTN2):c.103G>A (p.Ala35Thr)
|
|
|
NM_001103.4(ACTN2):c.1069C>T (p.Arg357Cys)
|
|
|
NM_001103.4(ACTN2):c.107G>A (p.Trp36Ter)
|
rs2102851395
|
|
NM_001103.4(ACTN2):c.1102G>C (p.Val368Leu)
|
|
|
NM_001103.4(ACTN2):c.1107+5G>A
|
|
|
NM_001103.4(ACTN2):c.1107+5G>T
|
rs2102922727
|
|
NM_001103.4(ACTN2):c.1108-10A>G
|
rs397516564
|
|
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.1135G>A (p.Glu379Lys)
|
rs1659115252
|
|
NM_001103.4(ACTN2):c.1150_1215dup (p.Gly384_Lys405dup)
|
rs2102927362
|
|
NM_001103.4(ACTN2):c.1162T>G (p.Trp388Gly)
|
rs376144003
|
|
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.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.1242G>T (p.Glu414Asp)
|
rs775057676
|
|
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.1255G>A (p.Gly419Ser)
|
rs1164161500
|
|
NM_001103.4(ACTN2):c.1256-3C>T
|
rs1553303028
|
|
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.1274T>C (p.Leu425Pro)
|
rs1572137003
|
|
NM_001103.4(ACTN2):c.1287C>G (p.Tyr429Ter)
|
rs764881077
|
|
NM_001103.4(ACTN2):c.1294G>C (p.Ala432Pro)
|
|
|
NM_001103.4(ACTN2):c.1304C>T (p.Thr435Ile)
|
|
|
NM_001103.4(ACTN2):c.130T>C (p.Phe44Leu)
|
|
|
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.1347C>A (p.Ser449Arg)
|
|
|
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr)
|
rs774252565
|
|
NM_001103.4(ACTN2):c.1349A>G (p.Asp450Gly)
|
|
|
NM_001103.4(ACTN2):c.1370G>A (p.Arg457His)
|
rs781559530
|
|
NM_001103.4(ACTN2):c.1370G>T (p.Arg457Leu)
|
|
|
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.1406+11A>G
|
rs2102930160
|
|
NM_001103.4(ACTN2):c.1407-541_1446del
|
rs1572139563
|
|
NM_001103.4(ACTN2):c.1421A>G (p.His474Arg)
|
|
|
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.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.1499G>A (p.Arg500Lys)
|
|
|
NM_001103.4(ACTN2):c.1508C>A (p.Ala503Asp)
|
rs1572140190
|
|
NM_001103.4(ACTN2):c.1516-3T>C
|
rs2102936291
|
|
NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly)
|
rs794728967
|
|
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.1547A>G (p.Gln516Arg)
|
rs1272875116
|
|
NM_001103.4(ACTN2):c.1547A>T (p.Gln516Leu)
|
|
|
NM_001103.4(ACTN2):c.1563T>G (p.Phe521Leu)
|
|
|
NM_001103.4(ACTN2):c.1573G>T (p.Ala525Ser)
|
|
|
NM_001103.4(ACTN2):c.1592G>A (p.Trp531Ter)
|
|
|
NM_001103.4(ACTN2):c.1601G>T (p.Gly534Val)
|
rs1060503685
|
|
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.161A>G (p.Lys54Arg)
|
|
|
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
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NM_001103.4(ACTN2):c.1651A>G (p.Ile551Val)
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NM_001103.4(ACTN2):c.1656+1G>A
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NM_001103.4(ACTN2):c.1656+3A>G
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NM_001103.4(ACTN2):c.1656+4A>C
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rs1659326105
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NM_001103.4(ACTN2):c.1657-8G>A
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rs753249728
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NM_001103.4(ACTN2):c.1667C>T (p.Thr556Ile)
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NM_001103.4(ACTN2):c.1670C>G (p.Ala557Gly)
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rs1389785784
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NM_001103.4(ACTN2):c.1670C>T (p.Ala557Val)
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NM_001103.4(ACTN2):c.1686G>C (p.Lys562Asn)
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NM_001103.4(ACTN2):c.1699G>A (p.Glu567Lys)
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rs1659393136
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NM_001103.4(ACTN2):c.16C>G (p.Pro6Ala)
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NM_001103.4(ACTN2):c.16C>T (p.Pro6Ser)
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NM_001103.4(ACTN2):c.1703C>T (p.Ala568Val)
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rs776805533
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NM_001103.4(ACTN2):c.1707C>A (p.Asp569Glu)
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rs773915011
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NM_001103.4(ACTN2):c.1708G>C (p.Gly570Arg)
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NM_001103.4(ACTN2):c.1723A>C (p.Ile575Leu)
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rs756815410
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NM_001103.4(ACTN2):c.1727T>C (p.Met576Thr)
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rs1572143354
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NM_001103.4(ACTN2):c.1730C>A (p.Ala577Asp)
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NM_001103.4(ACTN2):c.1735C>T (p.Gln579Ter)
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NM_001103.4(ACTN2):c.173A>G (p.Gln58Arg)
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NM_001103.4(ACTN2):c.1757T>C (p.Ile586Thr)
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NM_001103.4(ACTN2):c.1766ACA[1] (p.Asn590del)
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NM_001103.4(ACTN2):c.1769A>G (p.Asn590Ser)
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NM_001103.4(ACTN2):c.1775G>T (p.Arg592Ile)
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rs774780856
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NM_001103.4(ACTN2):c.1780A>G (p.Ser594Gly)
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rs1572143496
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NM_001103.4(ACTN2):c.1782C>G (p.Ser594Arg)
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rs2102939707
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NM_001103.4(ACTN2):c.17C>G (p.Pro6Arg)
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rs2102851212
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NM_001103.4(ACTN2):c.1808C>T (p.Thr603Ile)
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NM_001103.4(ACTN2):c.1811T>C (p.Met604Thr)
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NM_001103.4(ACTN2):c.1814A>G (p.Asp605Gly)
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rs1659399290
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NM_001103.4(ACTN2):c.1826C>T (p.Thr609Ile)
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NM_001103.4(ACTN2):c.1834G>A (p.Asp612Asn)
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NM_001103.4(ACTN2):c.1839+4G>C
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NM_001103.4(ACTN2):c.1841T>C (p.Val614Ala)
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NM_001103.4(ACTN2):c.184A>G (p.Ile62Val)
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rs1658269503
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NM_001103.4(ACTN2):c.1858A>G (p.Ile620Val)
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rs1659474887
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NM_001103.4(ACTN2):c.1859T>A (p.Ile620Asn)
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NM_001103.4(ACTN2):c.1901C>T (p.Ala634Val)
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NM_001103.4(ACTN2):c.1903A>G (p.Asn635Asp)
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rs1659477097
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NM_001103.4(ACTN2):c.1905C>A (p.Asn635Lys)
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rs772586220
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NM_001103.4(ACTN2):c.1907A>G (p.Glu636Gly)
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rs1010571438
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NM_001103.4(ACTN2):c.1909C>A (p.Arg637Ser)
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NM_001103.4(ACTN2):c.190G>A (p.Glu64Lys)
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rs2102893489
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NM_001103.4(ACTN2):c.1916G>A (p.Arg639Lys)
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rs1659477796
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NM_001103.4(ACTN2):c.1919G>T (p.Arg640Leu)
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NM_001103.4(ACTN2):c.1923G>T (p.Gln641His)
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NM_001103.4(ACTN2):c.1940A>G (p.Asn647Ser)
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rs2102942643
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NM_001103.4(ACTN2):c.1943C>G (p.Ala648Gly)
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rs1196167380
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NM_001103.4(ACTN2):c.1948G>A (p.Gly650Arg)
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rs1173244523
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NM_001103.4(ACTN2):c.1951C>A (p.Pro651Thr)
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NM_001103.4(ACTN2):c.1951C>T (p.Pro651Ser)
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NM_001103.4(ACTN2):c.1961A>G (p.Gln654Arg)
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NM_001103.4(ACTN2):c.1974+4A>G
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NM_001103.4(ACTN2):c.1974G>A (p.Glu658=)
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NM_001103.4(ACTN2):c.1975-2A>G
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NM_001103.4(ACTN2):c.1981G>T (p.Ala661Ser)
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rs2102943873
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NM_001103.4(ACTN2):c.1989C>G (p.Ser663Arg)
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NM_001103.4(ACTN2):c.1998G>C (p.Gln666His)
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NM_001103.4(ACTN2):c.1A>G (p.Met1Val)
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NM_001103.4(ACTN2):c.1_6del (p.Met1_Asn2del)
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rs1665879389
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NM_001103.4(ACTN2):c.2008G>A (p.Ala670Thr)
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NM_001103.4(ACTN2):c.200G>A (p.Arg67Lys)
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rs1658270003
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NM_001103.4(ACTN2):c.2029C>T (p.Gln677Ter)
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rs2102943969
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NM_001103.4(ACTN2):c.2033_2036dup (p.Lys679fs)
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rs2102943983
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NM_001103.4(ACTN2):c.2053A>C (p.Ile685Leu)
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NM_001103.4(ACTN2):c.2054TCA[1] (p.Ile686del)
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rs749678360
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NM_001103.4(ACTN2):c.2060_2061delinsCA (p.Asn687Thr)
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NM_001103.4(ACTN2):c.2069ACA[1] (p.Asn691del)
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rs757747164
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NM_001103.4(ACTN2):c.2074A>G (p.Ile692Val)
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NM_001103.4(ACTN2):c.2077G>A (p.Asp693Asn)
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NM_001103.4(ACTN2):c.2078A>G (p.Asp693Gly)
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rs1572146545
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NM_001103.4(ACTN2):c.2094C>A (p.Asp698Glu)
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rs1302931594
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NM_001103.4(ACTN2):c.2113G>A (p.Ala705Thr)
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rs1659517244
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NM_001103.4(ACTN2):c.2119G>A (p.Val707Ile)
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NM_001103.4(ACTN2):c.2120T>C (p.Val707Ala)
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NM_001103.4(ACTN2):c.2133G>C (p.Lys711Asn)
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NM_001103.4(ACTN2):c.2154+19C>T
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NM_001103.4(ACTN2):c.2155-4A>G
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rs201576900
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NM_001103.4(ACTN2):c.2161C>G (p.Arg721Gly)
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rs149433837
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NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys)
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rs149433837
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NM_001103.4(ACTN2):c.2162G>C (p.Arg721Pro)
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rs546431200
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NM_001103.4(ACTN2):c.2168G>C (p.Gly723Ala)
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rs906925808
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NM_001103.4(ACTN2):c.2170T>C (p.Trp724Arg)
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NM_001103.4(ACTN2):c.2171G>A (p.Trp724Ter)
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NM_001103.4(ACTN2):c.2201C>T (p.Thr734Ile)
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rs886046207
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NM_001103.4(ACTN2):c.2207A>G (p.Asn736Ser)
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NM_001103.4(ACTN2):c.2212G>A (p.Val738Met)
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NM_001103.4(ACTN2):c.2223G>C (p.Gln741His)
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NM_001103.4(ACTN2):c.2233A>T (p.Arg745Ter)
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rs2102947099
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NM_001103.4(ACTN2):c.2240C>T (p.Ala747Val)
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rs1060503686
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NM_001103.4(ACTN2):c.224T>G (p.Leu75Arg)
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NM_001103.4(ACTN2):c.2264T>G (p.Met755Arg)
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NM_001103.4(ACTN2):c.2279C>T (p.Ala760Val)
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rs1572149075
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NM_001103.4(ACTN2):c.2281T>A (p.Ser761Thr)
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NM_001103.4(ACTN2):c.2289C>G (p.Asn763Lys)
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rs745579917
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NM_001103.4(ACTN2):c.2301+2T>C
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rs2102947209
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NM_001103.4(ACTN2):c.2301G>C (p.Arg767Ser)
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NM_001103.4(ACTN2):c.2302A>G (p.Arg768Gly)
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NM_001103.4(ACTN2):c.2336G>C (p.Arg779Thr)
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NM_001103.4(ACTN2):c.235A>G (p.Ile79Val)
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NM_001103.4(ACTN2):c.2368-3C>A
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NM_001103.4(ACTN2):c.2368-5C>A
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rs771427713
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NM_001103.4(ACTN2):c.2373A>G (p.Glu791=)
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rs2102951481
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NM_001103.4(ACTN2):c.2387G>T (p.Arg796Leu)
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rs772409484
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NM_001103.4(ACTN2):c.2392A>G (p.Met798Val)
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NM_001103.4(ACTN2):c.2404G>A (p.Asp802Asn)
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NM_001103.4(ACTN2):c.2411A>G (p.Asn804Ser)
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rs776329264
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NM_001103.4(ACTN2):c.242-3C>A
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NM_001103.4(ACTN2):c.2425_2430del (p.Val809_Thr810del)
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rs1659690423
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NM_001103.4(ACTN2):c.2428A>G (p.Thr810Ala)
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NM_001103.4(ACTN2):c.242G>A (p.Gly81Glu)
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rs1658299884
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NM_001103.4(ACTN2):c.2434C>T (p.Gln812Ter)
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rs2102951649
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NM_001103.4(ACTN2):c.2436A>T (p.Gln812His)
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NM_001103.4(ACTN2):c.2443A>G (p.Ile815Val)
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NM_001103.4(ACTN2):c.2462A>G (p.Glu821Gly)
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NM_001103.4(ACTN2):c.2465C>T (p.Thr822Met)
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NM_001103.4(ACTN2):c.2468C>T (p.Ala823Val)
|
rs12072499
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NM_001103.4(ACTN2):c.2485G>A (p.Glu829Lys)
|
rs770335717
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NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter)
|
rs770335717
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NM_001103.4(ACTN2):c.2488C>A (p.Gln830Lys)
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NM_001103.4(ACTN2):c.2491G>C (p.Val831Leu)
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rs2102951840
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NM_001103.4(ACTN2):c.2498C>T (p.Ala833Val)
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NM_001103.4(ACTN2):c.249G>C (p.Arg83Ser)
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NM_001103.4(ACTN2):c.2513T>G (p.Leu838Arg)
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NM_001103.4(ACTN2):c.2526+3C>T
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NM_001103.4(ACTN2):c.2527-3C>T
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NM_001103.4(ACTN2):c.2528C>A (p.Pro843Gln)
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NM_001103.4(ACTN2):c.2530T>C (p.Tyr844His)
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rs1558252775
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NM_001103.4(ACTN2):c.2538_2539delinsTC (p.Ala847Pro)
|
rs2102953618
|
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NM_001103.4(ACTN2):c.253C>T (p.Pro85Ser)
|
rs1558232396
|
|
NM_001103.4(ACTN2):c.2545G>A (p.Glu849Lys)
|
rs1659736554
|
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NM_001103.4(ACTN2):c.2549T>G (p.Leu850Arg)
|
rs2102953648
|
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NM_001103.4(ACTN2):c.2557_2569del (p.Glu853fs)
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NM_001103.4(ACTN2):c.2570A>G (p.Asp857Gly)
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NM_001103.4(ACTN2):c.2576C>A (p.Ala859Asp)
|
rs773297054
|
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NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu)
|
rs397516577
|
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NM_001103.4(ACTN2):c.2599C>T (p.Pro867Ser)
|
rs1659739403
|
|
NM_001103.4(ACTN2):c.2600C>T (p.Pro867Leu)
|
rs1558252869
|
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NM_001103.4(ACTN2):c.2606A>G (p.Tyr869Cys)
|
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NM_001103.4(ACTN2):c.2614C>G (p.Pro872Ala)
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NM_001103.4(ACTN2):c.2614C>T (p.Pro872Ser)
|
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NM_001103.4(ACTN2):c.2614_2616delinsGAG (p.Pro872Glu)
|
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|
NM_001103.4(ACTN2):c.262G>C (p.Asp88His)
|
rs2102894794
|
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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
|
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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)
|
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NM_001103.4(ACTN2):c.26A>C (p.Gln9Pro)
|
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NM_001103.4(ACTN2):c.274A>G (p.Met92Val)
|
rs1658300725
|
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NM_001103.4(ACTN2):c.282C>A (p.Phe94Leu)
|
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NM_001103.4(ACTN2):c.283C>T (p.His95Tyr)
|
rs2102894844
|
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NM_001103.4(ACTN2):c.297T>G (p.Asn99Lys)
|
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NM_001103.4(ACTN2):c.303C>A (p.Asn101Lys)
|
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NM_001103.4(ACTN2):c.31A>C (p.Asn11His)
|
rs886046205
|
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NM_001103.4(ACTN2):c.320T>C (p.Ile107Thr)
|
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NM_001103.4(ACTN2):c.322G>A (p.Ala108Thr)
|
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|
NM_001103.4(ACTN2):c.325A>G (p.Ser109Gly)
|
rs1658302140
|
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NM_001103.4(ACTN2):c.329A>T (p.Lys110Ile)
|
|
|
NM_001103.4(ACTN2):c.332G>T (p.Gly111Val)
|
rs786204949
|
|
NM_001103.4(ACTN2):c.335T>A (p.Val112Glu)
|
rs1658302587
|
|
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.35A>G (p.Tyr12Cys)
|
|
|
NM_001103.4(ACTN2):c.361+16G>A
|
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|
NM_001103.4(ACTN2):c.361+8GT[3]
|
|
|
NM_001103.4(ACTN2):c.383A>G (p.Lys128Arg)
|
|
|
NM_001103.4(ACTN2):c.403T>G (p.Trp135Gly)
|
rs1060503684
|
|
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.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.449-3_449-2insTTCT
|
|
|
NM_001103.4(ACTN2):c.458C>T (p.Ala153Val)
|
|
|
NM_001103.4(ACTN2):c.464A>C (p.Glu155Ala)
|
rs1658537536
|
|
NM_001103.4(ACTN2):c.496G>C (p.Ala166Pro)
|
rs794728961
|
|
NM_001103.4(ACTN2):c.49dup (p.Asp17fs)
|
|
|
NM_001103.4(ACTN2):c.510T>A (p.Asn170Lys)
|
|
|
NM_001103.4(ACTN2):c.533C>G (p.Thr178Ser)
|
rs1176106230
|
|
NM_001103.4(ACTN2):c.536+6C>T
|
rs771398006
|
|
NM_001103.4(ACTN2):c.537-11C>G
|
|
|
NM_001103.4(ACTN2):c.537-1G>A
|
rs1572121782
|
|
NM_001103.4(ACTN2):c.537-3A>T
|
rs2102906436
|
|
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.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.572A>G (p.His191Arg)
|
|
|
NM_001103.4(ACTN2):c.573C>A (p.His191Gln)
|
rs1572121844
|
|
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)
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NM_001103.4(ACTN2):c.615+1G>C
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rs2102906595
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NM_001103.4(ACTN2):c.615+4_615+6del
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NM_001103.4(ACTN2):c.616G>T (p.Asp206Tyr)
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rs1658704139
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NM_001103.4(ACTN2):c.617A>G (p.Asp206Gly)
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rs148048699
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NM_001103.4(ACTN2):c.619G>T (p.Asp207Tyr)
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NM_001103.4(ACTN2):c.639C>A (p.Asn213Lys)
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rs1188575946
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NM_001103.4(ACTN2):c.646A>T (p.Met216Leu)
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NM_001103.4(ACTN2):c.64C>T (p.Gln22Ter)
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rs1553295414
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NM_001103.4(ACTN2):c.655G>A (p.Ala219Thr)
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rs1246542277
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NM_001103.4(ACTN2):c.65A>G (p.Gln22Arg)
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NM_001103.4(ACTN2):c.65A>T (p.Gln22Leu)
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rs1057518609
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NM_001103.4(ACTN2):c.674T>C (p.Ile225Thr)
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NM_001103.4(ACTN2):c.674T>G (p.Ile225Ser)
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rs1553301462
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NM_001103.4(ACTN2):c.67G>C (p.Glu23Gln)
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NM_001103.4(ACTN2):c.686T>G (p.Leu229Trp)
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rs141793230
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NM_001103.4(ACTN2):c.697+1G>A
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rs113669376
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NM_001103.4(ACTN2):c.697G>A (p.Asp233Asn)
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rs904672923
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NM_001103.4(ACTN2):c.698-10_1107+10del
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NM_001103.4(ACTN2):c.698-11_698-10delinsAA
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NM_001103.4(ACTN2):c.6C>G (p.Asn2Lys)
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NM_001103.4(ACTN2):c.700A>G (p.Ile234Val)
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rs794728963
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NM_001103.4(ACTN2):c.701T>A (p.Ile234Asn)
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rs2102916925
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NM_001103.4(ACTN2):c.718_727del (p.Pro240fs)
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rs2102916959
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NM_001103.4(ACTN2):c.721G>A (p.Asp241Asn)
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rs1342620732
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NM_001103.4(ACTN2):c.763G>A (p.Ala255Thr)
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rs1060503682
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NM_001103.4(ACTN2):c.764C>T (p.Ala255Val)
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NM_001103.4(ACTN2):c.770C>T (p.Ala257Val)
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rs759652494
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NM_001103.4(ACTN2):c.773G>T (p.Gly258Val)
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NM_001103.4(ACTN2):c.778G>T (p.Glu260Ter)
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NM_001103.4(ACTN2):c.782A>G (p.Gln261Arg)
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NM_001103.4(ACTN2):c.783+4C>T
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NM_001103.4(ACTN2):c.784-2A>G
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rs794728964
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NM_001103.4(ACTN2):c.787G>A (p.Glu263Lys)
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NM_001103.4(ACTN2):c.791C>A (p.Thr264Lys)
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NM_001103.4(ACTN2):c.794C>T (p.Ala265Val)
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rs794728965
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NM_001103.4(ACTN2):c.797C>A (p.Ala266Asp)
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NM_001103.4(ACTN2):c.800A>G (p.Asn267Ser)
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NM_001103.4(ACTN2):c.801C>G (p.Asn267Lys)
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NM_001103.4(ACTN2):c.806T>C (p.Ile269Thr)
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rs2102919139
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NM_001103.4(ACTN2):c.814G>T (p.Val272Phe)
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rs2102919141
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NM_001103.4(ACTN2):c.826A>G (p.Asn276Asp)
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rs876657743
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NM_001103.4(ACTN2):c.827A>T (p.Asn276Ile)
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NM_001103.4(ACTN2):c.82C>T (p.Arg28Cys)
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rs730880040
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NM_001103.4(ACTN2):c.836A>C (p.Asn279Thr)
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NM_001103.4(ACTN2):c.842G>A (p.Arg281Lys)
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rs1022501985
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NM_001103.4(ACTN2):c.857A>G (p.Tyr286Cys)
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NM_001103.4(ACTN2):c.85G>A (p.Asp29Asn)
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NM_001103.4(ACTN2):c.863G>A (p.Arg288Lys)
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NM_001103.4(ACTN2):c.868G>A (p.Ala290Thr)
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NM_001103.4(ACTN2):c.876+1G>A
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NM_001103.4(ACTN2):c.876+6G>A
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rs1658906175
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NM_001103.4(ACTN2):c.877-3C>A
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NM_001103.4(ACTN2):c.877-3C>T
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rs1174167762
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NM_001103.4(ACTN2):c.877-6G>C
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NM_001103.4(ACTN2):c.877C>A (p.Leu293Ile)
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NM_001103.4(ACTN2):c.886T>G (p.Trp296Gly)
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rs2102922356
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NM_001103.4(ACTN2):c.8A>G (p.Gln3Arg)
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rs1665879577
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NM_001103.4(ACTN2):c.928G>A (p.Glu310Lys)
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rs1572132678
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NM_001103.4(ACTN2):c.929A>G (p.Glu310Gly)
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NM_001103.4(ACTN2):c.935C>T (p.Thr312Ile)
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NM_001103.4(ACTN2):c.937A>G (p.Met313Val)
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rs754373136
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NM_001103.4(ACTN2):c.941A>C (p.Gln314Pro)
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rs2102922490
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NM_001103.4(ACTN2):c.953A>T (p.Lys318Met)
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rs2102922515
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NM_001103.4(ACTN2):c.959T>C (p.Leu320Pro)
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NM_001103.4(ACTN2):c.964G>T (p.Asp322Tyr)
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rs1416760371
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NM_001103.4(ACTN2):c.971G>C (p.Arg324Pro)
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rs1240148760
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NM_001103.4(ACTN2):c.989A>T (p.His330Leu)
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NM_001103.4(ACTN2):c.998C>G (p.Pro333Arg)
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NM_001103.4(ACTN2):c.9G>T (p.Gln3His)
|
rs1553295387
|
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