NM_002397.5(MEF2C):c.811-13C>T
|
rs201988423
|
0.00113
|
NM_002397.5(MEF2C):c.834+15C>T
|
rs140447603
|
0.00097
|
NM_002397.5(MEF2C):c.811-12G>A
|
rs149706617
|
0.00064
|
NM_002397.5(MEF2C):c.402+16A>G
|
rs373582392
|
0.00050
|
NM_002397.5(MEF2C):c.27G>A (p.Thr9=)
|
rs540349899
|
0.00021
|
NM_002397.5(MEF2C):c.642C>T (p.Asn214=)
|
rs79455305
|
0.00011
|
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala)
|
rs753002290
|
0.00010
|
NM_002397.5(MEF2C):c.180C>T (p.Thr60=)
|
rs773278207
|
0.00010
|
NM_002397.5(MEF2C):c.258+7G>C
|
rs372739987
|
0.00010
|
NM_002397.5(MEF2C):c.54+13A>T
|
rs374788140
|
0.00009
|
NM_002397.5(MEF2C):c.363C>T (p.Asn121=)
|
rs186648089
|
0.00008
|
NM_002397.5(MEF2C):c.780A>G (p.Pro260=)
|
rs776117674
|
0.00008
|
NM_002397.5(MEF2C):c.309G>A (p.Ala103=)
|
rs567797470
|
0.00006
|
NM_002397.5(MEF2C):c.759A>G (p.Pro253=)
|
rs368575766
|
0.00006
|
NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr)
|
rs796052726
|
0.00005
|
NM_002397.5(MEF2C):c.111G>A (p.Val37=)
|
rs759783899
|
0.00004
|
NM_002397.5(MEF2C):c.1332C>T (p.His444=)
|
rs376439815
|
0.00004
|
NM_002397.5(MEF2C):c.252C>T (p.Ile84=)
|
rs780952466
|
0.00004
|
NM_002397.5(MEF2C):c.258+10C>T
|
rs563149132
|
0.00004
|
NM_002397.5(MEF2C):c.312C>T (p.Asp104=)
|
rs587781034
|
0.00004
|
NM_002397.5(MEF2C):c.34A>G (p.Met12Val)
|
rs965091526
|
0.00004
|
NM_002397.5(MEF2C):c.480T>C (p.Pro160=)
|
rs200518765
|
0.00004
|
NM_002397.5(MEF2C):c.609C>T (p.Asp203=)
|
rs997965581
|
0.00004
|
NM_002397.5(MEF2C):c.871T>C (p.Leu291=)
|
rs747980554
|
0.00004
|
NM_002397.5(MEF2C):c.1299G>C (p.Gly433=)
|
rs771241026
|
0.00003
|
NM_002397.5(MEF2C):c.225G>A (p.Pro75=)
|
rs779924552
|
0.00003
|
NM_002397.5(MEF2C):c.397T>C (p.Leu133=)
|
rs1345329569
|
0.00003
|
NM_002397.5(MEF2C):c.637+19C>G
|
rs371668591
|
0.00003
|
NM_002397.5(MEF2C):c.810+14A>G
|
rs376014780
|
0.00003
|
NM_002397.5(MEF2C):c.1020C>T (p.Ser340=)
|
rs756799434
|
0.00002
|
NM_002397.5(MEF2C):c.1100+3A>G
|
rs779821248
|
0.00002
|
NM_002397.5(MEF2C):c.489A>G (p.Ser163=)
|
rs781632867
|
0.00002
|
NM_002397.5(MEF2C):c.615G>A (p.Thr205=)
|
rs776496777
|
0.00002
|
NM_002397.5(MEF2C):c.639G>C (p.Gly213=)
|
rs757188352
|
0.00002
|
NM_002397.5(MEF2C):c.810+10A>T
|
rs587783748
|
0.00002
|
NM_002397.5(MEF2C):c.822C>T (p.Val274=)
|
rs1282449699
|
0.00002
|
NM_002397.5(MEF2C):c.834+16G>A
|
rs760064638
|
0.00002
|
NM_002397.5(MEF2C):c.994T>C (p.Ser332Pro)
|
rs200887424
|
0.00002
|
NM_002397.5(MEF2C):c.1005G>C (p.Gly335=)
|
rs1053127005
|
0.00001
|
NM_002397.5(MEF2C):c.1014C>T (p.Thr338=)
|
rs1404943567
|
0.00001
|
NM_002397.5(MEF2C):c.1015G>A (p.Ala339Thr)
|
rs778783316
|
0.00001
|
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr)
|
rs797045703
|
0.00001
|
NM_002397.5(MEF2C):c.1041A>C (p.Val347=)
|
rs1426509656
|
0.00001
|
NM_002397.5(MEF2C):c.1218G>A (p.Ser406=)
|
rs759655835
|
0.00001
|
NM_002397.5(MEF2C):c.1290G>C (p.Ser430=)
|
rs745534524
|
0.00001
|
NM_002397.5(MEF2C):c.1296C>T (p.Asp432=)
|
rs756839313
|
0.00001
|
NM_002397.5(MEF2C):c.1340T>C (p.Ile447Thr)
|
rs753156153
|
0.00001
|
NM_002397.5(MEF2C):c.1416A>G (p.Ala472=)
|
rs1353760829
|
0.00001
|
NM_002397.5(MEF2C):c.210G>A (p.Thr70=)
|
rs1250050314
|
0.00001
|
NM_002397.5(MEF2C):c.219C>T (p.Asn73=)
|
rs768621677
|
0.00001
|
NM_002397.5(MEF2C):c.237G>A (p.Arg79=)
|
rs1799619981
|
0.00001
|
NM_002397.5(MEF2C):c.258+14C>T
|
rs779827174
|
0.00001
|
NM_002397.5(MEF2C):c.261G>A (p.Thr87=)
|
rs777529202
|
0.00001
|
NM_002397.5(MEF2C):c.308C>T (p.Ala103Val)
|
rs755436703
|
0.00001
|
NM_002397.5(MEF2C):c.319G>A (p.Val107Ile)
|
rs750647048
|
0.00001
|
NM_002397.5(MEF2C):c.423C>T (p.Phe141=)
|
rs774945849
|
0.00001
|
NM_002397.5(MEF2C):c.440T>G (p.Ile147Ser)
|
rs1366038563
|
0.00001
|
NM_002397.5(MEF2C):c.447G>C (p.Val149=)
|
rs1554112223
|
0.00001
|
NM_002397.5(MEF2C):c.450C>T (p.Ser150=)
|
rs1380809389
|
0.00001
|
NM_002397.5(MEF2C):c.465G>A (p.Leu155=)
|
rs1256206599
|
0.00001
|
NM_002397.5(MEF2C):c.499C>T (p.Pro167Ser)
|
rs1322552264
|
0.00001
|
NM_002397.5(MEF2C):c.531G>A (p.Leu177=)
|
rs371858773
|
0.00001
|
NM_002397.5(MEF2C):c.54+16T>A
|
rs953851573
|
0.00001
|
NM_002397.5(MEF2C):c.544A>G (p.Met182Val)
|
rs1250885583
|
0.00001
|
NM_002397.5(MEF2C):c.55-9T>G
|
rs1328901581
|
0.00001
|
NM_002397.5(MEF2C):c.585C>T (p.Asn195=)
|
rs398123686
|
0.00001
|
NM_002397.5(MEF2C):c.589+19G>A
|
rs1460049267
|
0.00001
|
NM_002397.5(MEF2C):c.645G>T (p.Gly215=)
|
rs1406989584
|
0.00001
|
NM_002397.5(MEF2C):c.730A>G (p.Met244Val)
|
rs752349182
|
0.00001
|
NM_002397.5(MEF2C):c.798G>A (p.Thr266=)
|
rs761222463
|
0.00001
|
NM_002397.5(MEF2C):c.860C>T (p.Ser287Leu)
|
rs777826971
|
0.00001
|
NM_002397.5(MEF2C):c.861G>A (p.Ser287=)
|
rs185655344
|
0.00001
|
NM_002397.5(MEF2C):c.887T>C (p.Val296Ala)
|
rs765881880
|
0.00001
|
NM_002397.5(MEF2C):c.936A>G (p.Pro312=)
|
rs763339882
|
0.00001
|
NM_002397.5(MEF2C):c.963C>T (p.Thr321=)
|
rs1363064582
|
0.00001
|
GRCh37/hg19 5q14.3(chr5:88065061-88406446)
|
|
|
NC_000005.10:g.(?_88722584)_(88823808_?)del
|
|
|
NC_000005.10:g.(?_88804588)_(88884466_?)del
|
|
|
NC_000005.10:g.88731902del
|
|
|
NC_000005.9:g.(?_87976333)_(88057095_?)del
|
|
|
NC_000005.9:g.(?_88027526)_(88027738_?)del
|
|
|
NC_000005.9:g.(?_88047654)_(88047880_?)del
|
|
|
NC_000005.9:g.(?_88056982)_(88119605_?)del
|
|
|
NC_000005.9:g.(?_88100395)_(88100638_?)del
|
|
|
NC_000005.9:g.(?_88100395)_(88119605_?)del
|
|
|
NC_000005.9:g.(?_88119532)_(88119605_?)del
|
|
|
NM_002397.4:c.(?_-1)_(*1_?)del
|
|
|
NM_002397.5(MEF2C):c.-142-25787T>G
|
rs2153377579
|
|
NM_002397.5(MEF2C):c.-26C>T
|
rs758320958
|
|
NM_002397.5(MEF2C):c.-66A>T
|
rs1350600010
|
|
NM_002397.5(MEF2C):c.-8C>T
|
rs2153222958
|
|
NM_002397.5(MEF2C):c.1002T>C (p.Ser334=)
|
rs2152208828
|
|
NM_002397.5(MEF2C):c.1005G>T (p.Gly335=)
|
|
|
NM_002397.5(MEF2C):c.1011C>T (p.Asn337=)
|
|
|
NM_002397.5(MEF2C):c.1017C>T (p.Ala339=)
|
rs1581323265
|
|
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln)
|
rs796052727
|
|
NM_002397.5(MEF2C):c.1030C>T (p.Leu344Phe)
|
rs980341351
|
|
NM_002397.5(MEF2C):c.1037C>T (p.Ser346Leu)
|
|
|
NM_002397.5(MEF2C):c.1038A>T (p.Ser346=)
|
|
|
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)
|
rs2153074771
|
|
NM_002397.5(MEF2C):c.104T>G (p.Leu35Arg)
|
rs2153074771
|
|
NM_002397.5(MEF2C):c.1056G>A (p.Gln352=)
|
|
|
NM_002397.5(MEF2C):c.105G>A (p.Leu35=)
|
|
|
NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg)
|
|
|
NM_002397.5(MEF2C):c.1072A>G (p.Met358Val)
|
|
|
NM_002397.5(MEF2C):c.1084G>T (p.Ala362Ser)
|
rs1481007836
|
|
NM_002397.5(MEF2C):c.1087C>T (p.Leu363Phe)
|
rs2152207244
|
|
NM_002397.5(MEF2C):c.108C>T (p.Ser36=)
|
rs143129901
|
|
NM_002397.5(MEF2C):c.109G>A (p.Val37Met)
|
|
|
NM_002397.5(MEF2C):c.1100+17T>C
|
|
|
NM_002397.5(MEF2C):c.1100+18T>C
|
|
|
NM_002397.5(MEF2C):c.1100+6C>G
|
rs1759908843
|
|
NM_002397.5(MEF2C):c.1101-20G>A
|
|
|
NM_002397.5(MEF2C):c.110T>C (p.Val37Ala)
|
rs1799677960
|
|
NM_002397.5(MEF2C):c.1119T>C (p.His373=)
|
rs2152046393
|
|
NM_002397.5(MEF2C):c.1128G>C (p.Gln376His)
|
rs1756837959
|
|
NM_002397.5(MEF2C):c.1135A>C (p.Asn379His)
|
|
|
NM_002397.5(MEF2C):c.1138C>A (p.Leu380Ile)
|
|
|
NM_002397.5(MEF2C):c.1139T>A (p.Leu380His)
|
|
|
NM_002397.5(MEF2C):c.113T>A (p.Leu38Gln)
|
rs397514655
|
|
NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro)
|
rs397514655
|
|
NM_002397.5(MEF2C):c.119A>G (p.Asp40Gly)
|
rs2153074606
|
|
NM_002397.5(MEF2C):c.1203T>C (p.Arg401=)
|
rs34381004
|
|
NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser)
|
|
|
NM_002397.5(MEF2C):c.1211C>A (p.Thr404Asn)
|
rs1756812909
|
|
NM_002397.5(MEF2C):c.1218G>T (p.Ser406=)
|
rs759655835
|
|
NM_002397.5(MEF2C):c.1233C>T (p.His411=)
|
|
|
NM_002397.5(MEF2C):c.1236G>A (p.Thr412=)
|
|
|
NM_002397.5(MEF2C):c.1239C>A (p.Arg413=)
|
|
|
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val)
|
rs768570497
|
|
NM_002397.5(MEF2C):c.1258C>T (p.Pro420Ser)
|
|
|
NM_002397.5(MEF2C):c.128T>G (p.Ile43Ser)
|
|
|
NM_002397.5(MEF2C):c.1298_1303dup (p.Gly433_Ser434dup)
|
rs1272732104
|
|
NM_002397.5(MEF2C):c.1299G>A (p.Gly433=)
|
rs771241026
|
|
NM_002397.5(MEF2C):c.1301G>A (p.Ser434Asn)
|
|
|
NM_002397.5(MEF2C):c.1302C>T (p.Ser434=)
|
|
|
NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln)
|
rs1360994640
|
|
NM_002397.5(MEF2C):c.131C>A (p.Ala44Glu)
|
|
|
NM_002397.5(MEF2C):c.131C>T (p.Ala44Val)
|
rs1799664202
|
|
NM_002397.5(MEF2C):c.1331A>C (p.His444Pro)
|
rs1554098567
|
|
NM_002397.5(MEF2C):c.1337C>G (p.Pro446Arg)
|
rs2152042647
|
|
NM_002397.5(MEF2C):c.1337C>T (p.Pro446Leu)
|
|
|
NM_002397.5(MEF2C):c.1339A>G (p.Ile447Val)
|
rs1756753374
|
|
NM_002397.5(MEF2C):c.1341T>C (p.Ile447=)
|
|
|
NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
|
|
|
NM_002397.5(MEF2C):c.1353A>G (p.Arg451=)
|
|
|
NM_002397.5(MEF2C):c.1354C>A (p.Pro452Thr)
|
|
|
NM_002397.5(MEF2C):c.1359G>T (p.Ser453=)
|
rs1224709005
|
|
NM_002397.5(MEF2C):c.1366G>T (p.Glu456Ter)
|
|
|
NM_002397.5(MEF2C):c.1368A>C (p.Glu456Asp)
|
|
|
NM_002397.5(MEF2C):c.1377T>C (p.Ser459=)
|
rs2152041593
|
|
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)
|
rs1799660837
|
|
NM_002397.5(MEF2C):c.1382C>A (p.Ser461Ter)
|
rs2152041454
|
|
NM_002397.5(MEF2C):c.1383A>T (p.Ser461=)
|
rs2152041410
|
|
NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala)
|
rs1194300256
|
|
NM_002397.5(MEF2C):c.1396C>A (p.Arg466=)
|
|
|
NM_002397.5(MEF2C):c.1398A>G (p.Arg466=)
|
rs2152041098
|
|
NM_002397.5(MEF2C):c.1401T>G (p.Leu467=)
|
rs1291920482
|
|
NM_002397.5(MEF2C):c.1403C>T (p.Ser468Phe)
|
rs607159
|
|
NM_002397.5(MEF2C):c.168G>A (p.Gln56=)
|
|
|
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys)
|
rs2153074319
|
|
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg)
|
rs1554139743
|
|
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn)
|
rs2153222922
|
|
NM_002397.5(MEF2C):c.192dup (p.Val65fs)
|
rs1580988138
|
|
NM_002397.5(MEF2C):c.194T>C (p.Val65Ala)
|
rs1580988074
|
|
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly)
|
rs1580988074
|
|
NM_002397.5(MEF2C):c.195G>T (p.Val65=)
|
rs1186763422
|
|
NM_002397.5(MEF2C):c.1A>G (p.Met1Val)
|
rs1432291994
|
|
NM_002397.5(MEF2C):c.204G>A (p.Lys68=)
|
rs1580987960
|
|
NM_002397.5(MEF2C):c.206A>T (p.Tyr69Phe)
|
rs2153074116
|
|
NM_002397.5(MEF2C):c.210delinsTAC (p.Glu71fs)
|
|
|
NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)
|
|
|
NM_002397.5(MEF2C):c.21G>T (p.Gln7His)
|
rs1554150584
|
|
NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter)
|
rs2153074000
|
|
NM_002397.5(MEF2C):c.225G>T (p.Pro75=)
|
rs779924552
|
|
NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)
|
|
|
NM_002397.5(MEF2C):c.235C>A (p.Arg79=)
|
rs1021588454
|
|
NM_002397.5(MEF2C):c.241A>G (p.Asn81Asp)
|
|
|
NM_002397.5(MEF2C):c.243C>T (p.Asn81=)
|
|
|
NM_002397.5(MEF2C):c.249C>T (p.Asp83=)
|
|
|
NM_002397.5(MEF2C):c.258+13_258+14delinsAT
|
rs2153073599
|
|
NM_002397.5(MEF2C):c.258+1G>A
|
rs1064797310
|
|
NM_002397.5(MEF2C):c.258+20G>A
|
|
|
NM_002397.5(MEF2C):c.258+2T>C
|
|
|
NM_002397.5(MEF2C):c.258+3G>A
|
|
|
NM_002397.5(MEF2C):c.258+5G>C
|
rs2153073717
|
|
NM_002397.5(MEF2C):c.258G>A (p.Glu86=)
|
rs796052724
|
|
NM_002397.5(MEF2C):c.259-16A>T
|
|
|
NM_002397.5(MEF2C):c.259-17C>T
|
|
|
NM_002397.5(MEF2C):c.259-19T>C
|
|
|
NM_002397.5(MEF2C):c.26C>T (p.Thr9Met)
|
rs2153222916
|
|
NM_002397.5(MEF2C):c.280A>G (p.Asn94Asp)
|
rs1777743502
|
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NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)
|
rs545185248
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NM_002397.5(MEF2C):c.303C>G (p.Pro101=)
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NM_002397.5(MEF2C):c.304G>C (p.Asp102His)
|
rs2152674244
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NM_002397.5(MEF2C):c.306T>C (p.Asp102=)
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NM_002397.5(MEF2C):c.30G>A (p.Arg10=)
|
rs2153222913
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NM_002397.5(MEF2C):c.312C>A (p.Asp104Glu)
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NM_002397.5(MEF2C):c.318C>T (p.Ser106=)
|
rs760986750
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NM_002397.5(MEF2C):c.320T>C (p.Val107Ala)
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NM_002397.5(MEF2C):c.345C>G (p.Asp115Glu)
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NM_002397.5(MEF2C):c.346A>G (p.Lys116Glu)
|
rs1777713411
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NM_002397.5(MEF2C):c.352A>C (p.Arg118=)
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|
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NM_002397.5(MEF2C):c.375T>G (p.Asp125Glu)
|
rs2152673396
|
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NM_002397.5(MEF2C):c.387C>G (p.Ser129Arg)
|
rs2152673311
|
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NM_002397.5(MEF2C):c.399G>T (p.Leu133Phe)
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rs2152673081
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NM_002397.5(MEF2C):c.3G>C (p.Met1Ile)
|
rs1554150607
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NM_002397.5(MEF2C):c.401_402+2del
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rs1561875779
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NM_002397.5(MEF2C):c.402+145A>G
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rs1777617806
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NM_002397.5(MEF2C):c.402+146C>A
|
rs1358670337
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NM_002397.5(MEF2C):c.402+184del
|
rs2152669802
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NM_002397.5(MEF2C):c.402+19del
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NM_002397.5(MEF2C):c.402+1G>A
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NM_002397.5(MEF2C):c.402+8C>T
|
rs1777690728
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NM_002397.5(MEF2C):c.402+9T>G
|
rs2152672913
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NM_002397.5(MEF2C):c.403-14T>G
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NM_002397.5(MEF2C):c.403-1G>A
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NM_002397.5(MEF2C):c.403-8T>A
|
rs1581754208
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NM_002397.5(MEF2C):c.40G>A (p.Glu14Lys)
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NM_002397.5(MEF2C):c.411del (p.Pro138fs)
|
rs1581753788
|
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NM_002397.5(MEF2C):c.413C>A (p.Pro138His)
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NM_002397.5(MEF2C):c.413del (p.Pro138fs)
|
rs1581753587
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NM_002397.5(MEF2C):c.439A>G (p.Ile147Val)
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NM_002397.5(MEF2C):c.43C>G (p.Arg15Gly)
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NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)
|
rs796052728
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NM_002397.5(MEF2C):c.446T>C (p.Val149Ala)
|
rs1057349061
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NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
|
rs1202957297
|
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NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro)
|
rs1202957297
|
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NM_002397.5(MEF2C):c.456C>T (p.His152=)
|
rs1554112204
|
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NM_002397.5(MEF2C):c.458del (p.Asn153fs)
|
rs730882192
|
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NM_002397.5(MEF2C):c.45dup (p.Asn16Ter)
|
rs1554150552
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NM_002397.5(MEF2C):c.461G>T (p.Ser154Ile)
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NM_002397.5(MEF2C):c.463T>C (p.Leu155=)
|
rs927377195
|
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NM_002397.5(MEF2C):c.468del (p.Tyr157fs)
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|
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NM_002397.5(MEF2C):c.471C>T (p.Tyr157=)
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NM_002397.5(MEF2C):c.478C>T (p.Pro160Ser)
|
rs1772995609
|
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NM_002397.5(MEF2C):c.490C>T (p.Leu164=)
|
rs1390261667
|
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NM_002397.5(MEF2C):c.511C>T (p.Pro171Ser)
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|
|
NM_002397.5(MEF2C):c.514C>T (p.Leu172=)
|
rs1772969049
|
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NM_002397.5(MEF2C):c.517G>A (p.Ala173Thr)
|
|
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NM_002397.5(MEF2C):c.51A>G (p.Arg17=)
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NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer)
|
rs1554150543
|
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NM_002397.5(MEF2C):c.522C>T (p.His174=)
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|
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NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter)
|
rs1772953161
|
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NM_002397.5(MEF2C):c.534G>A (p.Gln178=)
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|
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NM_002397.5(MEF2C):c.539A>G (p.Asn180Ser)
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NM_002397.5(MEF2C):c.53A>G (p.Gln18Arg)
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NM_002397.5(MEF2C):c.54+11T>C
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NM_002397.5(MEF2C):c.54+12A>C
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NM_002397.5(MEF2C):c.54+13A>G
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NM_002397.5(MEF2C):c.54+5G>A
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NM_002397.5(MEF2C):c.54+6T>C
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NM_002397.5(MEF2C):c.54+8G>T
|
rs2153222799
|
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NM_002397.5(MEF2C):c.541A>G (p.Ser181Gly)
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NM_002397.5(MEF2C):c.55-14T>C
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NM_002397.5(MEF2C):c.557T>C (p.Val186Ala)
|
rs1561821810
|
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NM_002397.5(MEF2C):c.559dup (p.Thr187fs)
|
rs2152524628
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
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NM_002397.5(MEF2C):c.566G>A (p.Arg189Gln)
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|
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NM_002397.5(MEF2C):c.576T>A (p.Ser192Arg)
|
rs1772929062
|
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NM_002397.5(MEF2C):c.579A>G (p.Ala193=)
|
|
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NM_002397.5(MEF2C):c.583A>G (p.Asn195Asp)
|
|
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NM_002397.5(MEF2C):c.589+16G>T
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|
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NM_002397.5(MEF2C):c.589+6T>A
|
rs1370610061
|
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NM_002397.5(MEF2C):c.589G>C (p.Gly197Arg)
|
rs1310323196
|
|
NM_002397.5(MEF2C):c.58A>G (p.Thr20Ala)
|
rs1554139870
|
|
NM_002397.5(MEF2C):c.590-15C>G
|
|
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NM_002397.5(MEF2C):c.590-4A>G
|
|
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NM_002397.5(MEF2C):c.592G>A (p.Gly198Ser)
|
rs1029856807
|
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NM_002397.5(MEF2C):c.595C>G (p.Leu199Val)
|
|
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NM_002397.5(MEF2C):c.595C>T (p.Leu199=)
|
rs1472815211
|
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NM_002397.5(MEF2C):c.59C>T (p.Thr20Ile)
|
rs2153075088
|
|
NM_002397.5(MEF2C):c.611T>G (p.Leu204Arg)
|
rs2152497517
|
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NM_002397.5(MEF2C):c.612C>G (p.Leu204=)
|
rs1771367792
|
|
NM_002397.5(MEF2C):c.614C>T (p.Thr205Met)
|
|
|
NM_002397.5(MEF2C):c.614_626delinsGTCTCCAC (p.Thr205fs)
|
rs1554110298
|
|
NM_002397.5(MEF2C):c.626_627insTCTCCAC (p.Thr210fs)
|
rs2152497336
|
|
NM_002397.5(MEF2C):c.637+1G>C
|
rs2152497250
|
|
NM_002397.5(MEF2C):c.637+1G>T
|
|
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NM_002397.5(MEF2C):c.637+9A>G
|
rs1581701842
|
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NM_002397.5(MEF2C):c.638-11T>C
|
|
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NM_002397.5(MEF2C):c.638-14T>C
|
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NM_002397.5(MEF2C):c.638-14dup
|
rs754587449
|
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NM_002397.5(MEF2C):c.638-15G>A
|
|
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NM_002397.5(MEF2C):c.638-1G>A
|
rs2152281284
|
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NM_002397.5(MEF2C):c.638-2A>C
|
rs1554102556
|
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NM_002397.5(MEF2C):c.638-7T>C
|
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NM_002397.5(MEF2C):c.638-9del
|
|
|
NM_002397.5(MEF2C):c.645G>A (p.Gly215=)
|
rs1406989584
|
|
NM_002397.5(MEF2C):c.651C>A (p.Gly217=)
|
rs929360766
|
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NM_002397.5(MEF2C):c.655C>A (p.Pro219Thr)
|
|
|
NM_002397.5(MEF2C):c.656C>T (p.Pro219Leu)
|
rs1761821562
|
|
NM_002397.5(MEF2C):c.657C>T (p.Pro219=)
|
rs1477294607
|
|
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter)
|
rs1761818173
|
|
NM_002397.5(MEF2C):c.664T>C (p.Ser222Pro)
|
|
|
NM_002397.5(MEF2C):c.66A>G (p.Thr22=)
|
rs2153075042
|
|
NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter)
|
rs267607233
|
|
NM_002397.5(MEF2C):c.685C>A (p.Pro229Thr)
|
|
|
NM_002397.5(MEF2C):c.685C>T (p.Pro229Ser)
|
|
|
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)
|
rs797045053
|
|
NM_002397.5(MEF2C):c.690T>C (p.Gly230=)
|
rs1168200349
|
|
NM_002397.5(MEF2C):c.694T>G (p.Leu232Val)
|
rs2152280607
|
|
NM_002397.5(MEF2C):c.699C>T (p.Asn233=)
|
rs2152280530
|
|
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys)
|
rs869312698
|
|
NM_002397.5(MEF2C):c.724C>G (p.Pro242Ala)
|
|
|
NM_002397.5(MEF2C):c.728dup (p.Met244fs)
|
|
|
NM_002397.5(MEF2C):c.729A>G (p.Pro243=)
|
|
|
NM_002397.5(MEF2C):c.72G>A (p.Arg24=)
|
rs1057522729
|
|
NM_002397.5(MEF2C):c.746A>G (p.Asn249Ser)
|
|
|
NM_002397.5(MEF2C):c.750C>T (p.Asn250=)
|
|
|
NM_002397.5(MEF2C):c.751C>T (p.Arg251Cys)
|
rs1761787183
|
|
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)
|
rs796052733
|
|
NM_002397.5(MEF2C):c.767G>A (p.Arg256Gln)
|
rs1761775496
|
|
NM_002397.5(MEF2C):c.768A>G (p.Arg256=)
|
rs2152279899
|
|
NM_002397.5(MEF2C):c.769G>C (p.Val257Leu)
|
|
|
NM_002397.5(MEF2C):c.773T>A (p.Leu258His)
|
rs1268731100
|
|
NM_002397.5(MEF2C):c.775A>G (p.Ile259Val)
|
|
|
NM_002397.5(MEF2C):c.780dup (p.Pro261fs)
|
rs1561697465
|
|
NM_002397.5(MEF2C):c.788G>T (p.Ser263Ile)
|
rs2152279598
|
|
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
|
|
|
NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala)
|
rs397514656
|
|
NM_002397.5(MEF2C):c.810+13T>G
|
|
|
NM_002397.5(MEF2C):c.810+2T>C
|
|
|
NM_002397.5(MEF2C):c.811-14C>T
|
|
|
NM_002397.5(MEF2C):c.811-17C>T
|
|
|
NM_002397.5(MEF2C):c.811-5C>G
|
rs1760866808
|
|
NM_002397.5(MEF2C):c.823G>C (p.Asp275His)
|
|
|
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer)
|
rs587783749
|
|
NM_002397.5(MEF2C):c.834+13A>G
|
|
|
NM_002397.5(MEF2C):c.835-10_835-7del
|
rs1291357632
|
|
NM_002397.5(MEF2C):c.835-20C>A
|
|
|
NM_002397.5(MEF2C):c.835-2A>G
|
|
|
NM_002397.5(MEF2C):c.855C>T (p.Ser285=)
|
|
|
NM_002397.5(MEF2C):c.864T>C (p.Ala288=)
|
rs2152224964
|
|
NM_002397.5(MEF2C):c.881del (p.Pro294fs)
|
|
|
NM_002397.5(MEF2C):c.88AAG[1] (p.Lys31del)
|
|
|
NM_002397.5(MEF2C):c.891C>T (p.Ser297=)
|
rs755665375
|
|
NM_002397.5(MEF2C):c.892G>A (p.Val298Ile)
|
|
|
NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr)
|
|
|
NM_002397.5(MEF2C):c.900T>A (p.Thr300=)
|
|
|
NM_002397.5(MEF2C):c.908del (p.Leu303fs)
|
|
|
NM_002397.5(MEF2C):c.908dup (p.Leu303fs)
|
rs1581338441
|
|
NM_002397.5(MEF2C):c.919G>C (p.Gly307Arg)
|
|
|
NM_002397.5(MEF2C):c.91A>G (p.Lys31Glu)
|
|
|
NM_002397.5(MEF2C):c.939_940del (p.Ala314fs)
|
|
|
NM_002397.5(MEF2C):c.940G>T (p.Ala314Ser)
|
|
|
NM_002397.5(MEF2C):c.965-10T>G
|
|
|
NM_002397.5(MEF2C):c.965-15T>C
|
rs2152209795
|
|
NM_002397.5(MEF2C):c.965-19_965-17del
|
|
|
NM_002397.5(MEF2C):c.965-2A>G
|
rs1759968705
|
|
NM_002397.5(MEF2C):c.965-6A>C
|
rs2152209415
|
|
NM_002397.5(MEF2C):c.965-6_965-2del
|
rs1064795146
|
|
NM_002397.5(MEF2C):c.988C>T (p.Leu330=)
|
|
|
NM_002397.5(MEF2C):c.988del (p.Leu330fs)
|
rs1759964009
|
|
NM_002397.5(MEF2C):c.990G>T (p.Leu330=)
|
|
|
NM_002397.5(MEF2C):c.992C>T (p.Ser331Leu)
|
|
|
NM_002397.5(MEF2C):c.999_1000del (p.Ser334fs)
|
|
|
NM_002397.5(MEF2C):c.99T>C (p.Tyr33=)
|
|
|
NM_002397.5(MEF2C):c.99dup (p.Glu34Ter)
|
rs2153074822
|
|
NM_002397.5(MEF2C):c.9A>T (p.Arg3Ser)
|
rs876661308
|
|