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