NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala)
|
rs753002290
|
0.00010
|
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.1332C>T (p.His444=)
|
rs376439815
|
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.1100+3A>G
|
rs779821248
|
0.00002
|
NM_002397.5(MEF2C):c.489A>G (p.Ser163=)
|
rs781632867
|
0.00002
|
NM_002397.5(MEF2C):c.*3045C>T
|
rs886060855
|
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.1340T>C (p.Ile447Thr)
|
rs753156153
|
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.402+75G>T
|
rs997329230
|
0.00001
|
NM_002397.5(MEF2C):c.440T>G (p.Ile147Ser)
|
rs1366038563
|
0.00001
|
NM_002397.5(MEF2C):c.531G>A (p.Leu177=)
|
rs371858773
|
0.00001
|
NM_002397.5(MEF2C):c.544A>G (p.Met182Val)
|
rs1250885583
|
0.00001
|
NM_002397.5(MEF2C):c.585C>T (p.Asn195=)
|
rs398123686
|
0.00001
|
NM_002397.5(MEF2C):c.686C>T (p.Pro229Leu)
|
rs1761808498
|
0.00001
|
NM_002397.5(MEF2C):c.730A>G (p.Met244Val)
|
rs752349182
|
0.00001
|
NM_002397.5(MEF2C):c.860C>T (p.Ser287Leu)
|
rs777826971
|
0.00001
|
GRCh37/hg19 5q14.3(chr5:88062122-88111344)x3
|
|
|
GRCh37/hg19 5q14.3(chr5:88079010-88297500)x3
|
|
|
GRCh37/hg19 5q14.3(chr5:88122457-88197779)x3
|
|
|
NM_002397.4(MEF2C):c.-450delC
|
rs144197632
|
|
NM_002397.4(MEF2C):c.-450dup
|
rs144197632
|
|
NM_002397.4(MEF2C):c.-548_-546CTC[6]
|
rs567979916
|
|
NM_002397.4(MEF2C):c.-548_-546CTC[8]
|
rs567979916
|
|
NM_002397.4(MEF2C):c.-548_-546CTC[9]
|
rs567979916
|
|
NM_002397.5(MEF2C):c.*115del
|
rs553216678
|
|
NM_002397.5(MEF2C):c.*2266_*2267dup
|
rs3841444
|
|
NM_002397.5(MEF2C):c.*2267del
|
rs3841444
|
|
NM_002397.5(MEF2C):c.*2877_*2878dup
|
rs886060856
|
|
NM_002397.5(MEF2C):c.*31_*32del
|
rs56660854
|
|
NM_002397.5(MEF2C):c.*3387A>T
|
rs886060854
|
|
NM_002397.5(MEF2C):c.*51_*55del
|
rs886060862
|
|
NM_002397.5(MEF2C):c.-142-25787T>G
|
rs2153377579
|
|
NM_002397.5(MEF2C):c.-208del
|
rs886060864
|
|
NM_002397.5(MEF2C):c.-208dup
|
rs886060864
|
|
NM_002397.5(MEF2C):c.-91_-89del
|
rs747852567
|
|
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln)
|
rs796052727
|
|
NM_002397.5(MEF2C):c.1037C>T (p.Ser346Leu)
|
|
|
NM_002397.5(MEF2C):c.1072A>G (p.Met358Val)
|
|
|
NM_002397.5(MEF2C):c.1075C>A (p.Pro359Thr)
|
|
|
NM_002397.5(MEF2C):c.1084G>T (p.Ala362Ser)
|
rs1481007836
|
|
NM_002397.5(MEF2C):c.109G>A (p.Val37Met)
|
|
|
NM_002397.5(MEF2C):c.1101-3C>T
|
|
|
NM_002397.5(MEF2C):c.110T>C (p.Val37Ala)
|
rs1799677960
|
|
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.115T>C (p.Cys39Arg)
|
rs796052729
|
|
NM_002397.5(MEF2C):c.119A>G (p.Asp40Gly)
|
rs2153074606
|
|
NM_002397.5(MEF2C):c.1202G>A (p.Arg401His)
|
rs2152045243
|
|
NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser)
|
|
|
NM_002397.5(MEF2C):c.120_125dup (p.Asp40_Cys41dup)
|
rs796052732
|
|
NM_002397.5(MEF2C):c.1211C>A (p.Thr404Asn)
|
rs1756812909
|
|
NM_002397.5(MEF2C):c.121T>C (p.Cys41Arg)
|
rs794727493
|
|
NM_002397.5(MEF2C):c.1226C>A (p.Pro409Gln)
|
|
|
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val)
|
rs768570497
|
|
NM_002397.5(MEF2C):c.1258C>T (p.Pro420Ser)
|
|
|
NM_002397.5(MEF2C):c.126G>C (p.Glu42Asp)
|
rs2153074530
|
|
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.1301G>A (p.Ser434Asn)
|
|
|
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.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.1360C>A (p.Pro454Thr)
|
|
|
NM_002397.5(MEF2C):c.1366G>T (p.Glu456Ter)
|
|
|
NM_002397.5(MEF2C):c.1368A>C (p.Glu456Asp)
|
|
|
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.1403C>T (p.Ser468Phe)
|
rs607159
|
|
NM_002397.5(MEF2C):c.1413G>A (p.Trp471Ter)
|
|
|
NM_002397.5(MEF2C):c.1415C>A (p.Ala472Glu)
|
rs1561641773
|
|
NM_002397.5(MEF2C):c.152C>T (p.Thr51Ile)
|
rs1057519001
|
|
NM_002397.5(MEF2C):c.15G>T (p.Lys5Asn)
|
|
|
NM_002397.5(MEF2C):c.160C>T (p.Leu54=)
|
|
|
NM_002397.5(MEF2C):c.168G>C (p.Gln56His)
|
rs2153074335
|
|
NM_002397.5(MEF2C):c.17T>G (p.Ile6Ser)
|
|
|
NM_002397.5(MEF2C):c.196C>G (p.Leu66Val)
|
rs1799641525
|
|
NM_002397.5(MEF2C):c.1A>G (p.Met1Val)
|
rs1432291994
|
|
NM_002397.5(MEF2C):c.206A>T (p.Tyr69Phe)
|
rs2153074116
|
|
NM_002397.5(MEF2C):c.21G>T (p.Gln7His)
|
rs1554150584
|
|
NM_002397.5(MEF2C):c.227A>G (p.His76Arg)
|
|
|
NM_002397.5(MEF2C):c.258+20G>A
|
|
|
NM_002397.5(MEF2C):c.258+3G>A
|
|
|
NM_002397.5(MEF2C):c.26C>T (p.Thr9Met)
|
rs2153222916
|
|
NM_002397.5(MEF2C):c.280A>G (p.Asn94Asp)
|
rs1777743502
|
|
NM_002397.5(MEF2C):c.304G>C (p.Asp102His)
|
rs2152674244
|
|
NM_002397.5(MEF2C):c.312C>A (p.Asp104Glu)
|
|
|
NM_002397.5(MEF2C):c.315T>G (p.Asp105Glu)
|
|
|
NM_002397.5(MEF2C):c.320T>C (p.Val107Ala)
|
|
|
NM_002397.5(MEF2C):c.345C>G (p.Asp115Glu)
|
|
|
NM_002397.5(MEF2C):c.346A>G (p.Lys116Glu)
|
rs1777713411
|
|
NM_002397.5(MEF2C):c.387C>G (p.Ser129Arg)
|
rs2152673311
|
|
NM_002397.5(MEF2C):c.399G>T (p.Leu133Phe)
|
rs2152673081
|
|
NM_002397.5(MEF2C):c.3G>C (p.Met1Ile)
|
rs1554150607
|
|
NM_002397.5(MEF2C):c.402+106A>G
|
|
|
NM_002397.5(MEF2C):c.402+145A>G
|
rs1777617806
|
|
NM_002397.5(MEF2C):c.402+147A>G
|
rs1580252051
|
|
NM_002397.5(MEF2C):c.402+153dup
|
rs796052736
|
|
NM_002397.5(MEF2C):c.402+163A>G
|
|
|
NM_002397.5(MEF2C):c.40G>A (p.Glu14Lys)
|
|
|
NM_002397.5(MEF2C):c.413C>A (p.Pro138His)
|
|
|
NM_002397.5(MEF2C):c.415C>T (p.Pro139Ser)
|
rs2152525975
|
|
NM_002397.5(MEF2C):c.430C>A (p.Pro144Thr)
|
|
|
NM_002397.5(MEF2C):c.43C>G (p.Arg15Gly)
|
|
|
NM_002397.5(MEF2C):c.446T>C (p.Val149Ala)
|
rs1057349061
|
|
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
|
rs1202957297
|
|
NM_002397.5(MEF2C):c.461G>T (p.Ser154Ile)
|
|
|
NM_002397.5(MEF2C):c.478C>T (p.Pro160Ser)
|
rs1772995609
|
|
NM_002397.5(MEF2C):c.511C>T (p.Pro171Ser)
|
|
|
NM_002397.5(MEF2C):c.517G>A (p.Ala173Thr)
|
|
|
NM_002397.5(MEF2C):c.524C>T (p.Pro175Leu)
|
rs2152524882
|
|
NM_002397.5(MEF2C):c.53A>G (p.Gln18Arg)
|
|
|
NM_002397.5(MEF2C):c.54+5G>A
|
|
|
NM_002397.5(MEF2C):c.54+6T>C
|
|
|
NM_002397.5(MEF2C):c.541A>G (p.Ser181Gly)
|
|
|
NM_002397.5(MEF2C):c.553G>A (p.Gly185Ser)
|
|
|
NM_002397.5(MEF2C):c.576T>A (p.Ser192Arg)
|
rs1772929062
|
|
NM_002397.5(MEF2C):c.579A>G (p.Ala193=)
|
|
|
NM_002397.5(MEF2C):c.583A>G (p.Asn195Asp)
|
|
|
NM_002397.5(MEF2C):c.589+6T>A
|
rs1370610061
|
|
NM_002397.5(MEF2C):c.589+8del
|
|
|
NM_002397.5(MEF2C):c.58A>G (p.Thr20Ala)
|
rs1554139870
|
|
NM_002397.5(MEF2C):c.592G>A (p.Gly198Ser)
|
rs1029856807
|
|
NM_002397.5(MEF2C):c.595C>G (p.Leu199Val)
|
|
|
NM_002397.5(MEF2C):c.59C>T (p.Thr20Ile)
|
rs2153075088
|
|
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.655C>A (p.Pro219Thr)
|
|
|
NM_002397.5(MEF2C):c.656C>T (p.Pro219Leu)
|
rs1761821562
|
|
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter)
|
rs1761818173
|
|
NM_002397.5(MEF2C):c.664T>C (p.Ser222Pro)
|
|
|
NM_002397.5(MEF2C):c.685C>A (p.Pro229Thr)
|
|
|
NM_002397.5(MEF2C):c.685C>T (p.Pro229Ser)
|
|
|
NM_002397.5(MEF2C):c.724C>G (p.Pro242Ala)
|
|
|
NM_002397.5(MEF2C):c.746A>G (p.Asn249Ser)
|
|
|
NM_002397.5(MEF2C):c.751C>T (p.Arg251Cys)
|
rs1761787183
|
|
NM_002397.5(MEF2C):c.752G>A (p.Arg251His)
|
rs1761785681
|
|
NM_002397.5(MEF2C):c.767G>A (p.Arg256Gln)
|
rs1761775496
|
|
NM_002397.5(MEF2C):c.769G>C (p.Val257Leu)
|
|
|
NM_002397.5(MEF2C):c.775A>G (p.Ile259Val)
|
|
|
NM_002397.5(MEF2C):c.781C>T (p.Pro261Ser)
|
|
|
NM_002397.5(MEF2C):c.788G>T (p.Ser263Ile)
|
rs2152279598
|
|
NM_002397.5(MEF2C):c.799A>G (p.Met267Val)
|
rs1761753278
|
|
NM_002397.5(MEF2C):c.800T>C (p.Met267Thr)
|
rs1561697163
|
|
NM_002397.5(MEF2C):c.811-5C>G
|
rs1760866808
|
|
NM_002397.5(MEF2C):c.823G>C (p.Asp275His)
|
|
|
NM_002397.5(MEF2C):c.826C>G (p.Leu276Val)
|
rs2152250513
|
|
NM_002397.5(MEF2C):c.82T>G (p.Leu28Val)
|
|
|
NM_002397.5(MEF2C):c.892G>A (p.Val298Ile)
|
|
|
NM_002397.5(MEF2C):c.896C>T (p.Ala299Val)
|
|
|
NM_002397.5(MEF2C):c.919G>C (p.Gly307Arg)
|
|
|
NM_002397.5(MEF2C):c.91A>G (p.Lys31Glu)
|
|
|
NM_002397.5(MEF2C):c.93G>T (p.Lys31Asn)
|
rs1057518382
|
|
NM_002397.5(MEF2C):c.940G>T (p.Ala314Ser)
|
|
|
NM_002397.5(MEF2C):c.941C>G (p.Ala314Gly)
|
rs1064796969
|
|
NM_002397.5(MEF2C):c.964G>A (p.Glu322Lys)
|
rs2152223232
|
|
NM_002397.5(MEF2C):c.965-11C>A
|
rs1043608782
|
|
NM_002397.5(MEF2C):c.992C>T (p.Ser331Leu)
|
|
|