NM_002397.5(MEF2C):c.403-139A>G
|
rs2247885
|
0.48112
|
NM_002397.5(MEF2C):c.-142-333_-142-332insAG
|
rs10689049
|
0.42870
|
NM_001131005.2(MEF2C):c.-239-236T>C
|
rs17560407
|
0.18327
|
NM_002397.5(MEF2C):c.590-95G>T
|
rs10514303
|
0.05491
|
NM_002397.5(MEF2C):c.810+199T>A
|
rs45563631
|
0.05047
|
NM_002397.5(MEF2C):c.810+268C>T
|
rs72771875
|
0.02706
|
NM_002397.5(MEF2C):c.258+155T>G
|
rs3850650
|
0.02169
|
NM_002397.5(MEF2C):c.811-290T>C
|
rs73773730
|
0.01934
|
NM_002397.5(MEF2C):c.589+57A>C
|
rs3729703
|
0.01312
|
NM_002397.5(MEF2C):c.1101-254C>T
|
rs144445046
|
0.00448
|
NM_002397.5(MEF2C):c.1100+111T>C
|
rs45596931
|
0.00426
|
NM_002397.5(MEF2C):c.1100+145T>C
|
rs3729669
|
0.00369
|
NM_002397.5(MEF2C):c.54+173A>G
|
rs73179423
|
0.00358
|
NC_000005.10:g.88480873T>G
|
rs554441006
|
0.00142
|
NM_002397.5(MEF2C):c.-209T>C
|
rs564254573
|
0.00065
|
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.964+23A>G
|
rs3729668
|
0.00031
|
NM_001131005.2(MEF2C):c.-143+6T>C
|
rs749992711
|
0.00027
|
NM_002397.5(MEF2C):c.27G>A (p.Thr9=)
|
rs540349899
|
0.00021
|
NM_002397.5(MEF2C):c.*3046G>A
|
rs563346285
|
0.00018
|
NM_002397.5(MEF2C):c.402+46T>C
|
rs763680701
|
0.00018
|
NM_002397.5(MEF2C):c.402+104C>T
|
rs569860731
|
0.00014
|
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.363C>T (p.Asn121=)
|
rs186648089
|
0.00008
|
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.402+71G>A
|
rs369779113
|
0.00004
|
NM_002397.5(MEF2C):c.609C>T (p.Asp203=)
|
rs997965581
|
0.00004
|
NM_002397.5(MEF2C):c.-1T>C
|
rs1199121348
|
0.00003
|
NM_002397.5(MEF2C):c.1299G>C (p.Gly433=)
|
rs771241026
|
0.00003
|
NM_002397.5(MEF2C):c.402+208A>G
|
rs764312143
|
0.00003
|
NM_002397.5(MEF2C):c.1020C>T (p.Ser340=)
|
rs756799434
|
0.00002
|
NM_002397.5(MEF2C):c.402+152A>G
|
rs774007350
|
0.00002
|
NM_002397.5(MEF2C):c.489A>G (p.Ser163=)
|
rs781632867
|
0.00002
|
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr)
|
rs797045703
|
0.00001
|
NM_002397.5(MEF2C):c.1053A>G (p.Gln351=)
|
rs970307256
|
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.402+75G>T
|
rs997329230
|
0.00001
|
NM_002397.5(MEF2C):c.423C>T (p.Phe141=)
|
rs774945849
|
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.798G>A (p.Thr266=)
|
rs761222463
|
0.00001
|
GRCh37/hg19 5q14.3(chr5:88041931-88078617)x1
|
|
|
GRCh37/hg19 5q14.3(chr5:88054762-88271992)x1
|
|
|
GRCh37/hg19 5q14.3(chr5:88062122-88111344)x3
|
|
|
GRCh37/hg19 5q14.3(chr5:88079010-88297500)x3
|
|
|
GRCh37/hg19 5q14.3(chr5:88097312-88197506)x3
|
|
|
GRCh37/hg19 5q14.3(chr5:88103597-88226422)x3
|
|
|
GRCh37/hg19 5q14.3(chr5:88105838-88119403)x1
|
|
|
GRCh37/hg19 5q14.3(chr5:88119552-88119605)x1
|
|
|
GRCh37/hg19 5q14.3(chr5:88122457-88197779)x3
|
|
|
GRCh37/hg19 5q14.3(chr5:88162245-88177599)x1
|
|
|
GRCh37/hg19 5q14.3(chr5:88169558-88176878)x1
|
|
|
GRCh37/hg19 5q14.3(chr5:88193159-88218797)x3
|
|
|
GRCh37/hg19 5q14.3(chr5:88193901-88218797)x3
|
|
|
GRCh37/hg19 5q14.3(chr5:88193901-88223420)x4
|
|
|
GRCh37/hg19 5q14.3(chr5:88196003-88199586)x3
|
|
|
GRCh37/hg19 5q14.3(chr5:88196003-88218797)x3
|
|
|
GRCh37/hg19 5q14.3(chr5:88196003-88223420)x4
|
|
|
GRCh37/hg19 5q14.3(chr5:88197506-88218797)x4
|
|
|
GRCh37/hg19 5q14.3(chr5:88197595-88226422)x4
|
|
|
NM_001131005.2(MEF2C):c.805-887_805-884del
|
rs1760863025
|
|
NM_002397.4(MEF2C):c.-450_-449dup
|
rs144197632
|
|
NM_002397.4(MEF2C):c.-450dup
|
rs144197632
|
|
NM_002397.4(MEF2C):c.-523_-511TCTTCCTCCTCCT[1]
|
rs1164925540
|
|
NM_002397.4(MEF2C):c.-548_-546CTC[5]
|
|
|
NM_002397.4(MEF2C):c.-548_-546CTC[8]
|
rs567979916
|
|
NM_002397.5(MEF2C):c.*32del
|
rs56660854
|
|
NM_002397.5(MEF2C):c.-143+89A>G
|
rs10044342
|
|
NM_002397.5(MEF2C):c.-207C>T
|
rs200560914
|
|
NM_002397.5(MEF2C):c.-207CT[7]
|
rs879560669
|
|
NM_002397.5(MEF2C):c.-26C>T
|
rs758320958
|
|
NM_002397.5(MEF2C):c.-8C>T
|
rs2153222958
|
|
NM_002397.5(MEF2C):c.100G>T (p.Glu34Ter)
|
rs1057520584
|
|
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln)
|
rs796052727
|
|
NM_002397.5(MEF2C):c.106A>G (p.Ser36Gly)
|
rs2153074738
|
|
NM_002397.5(MEF2C):c.1075C>A (p.Pro359Thr)
|
|
|
NM_002397.5(MEF2C):c.109G>A (p.Val37Met)
|
|
|
NM_002397.5(MEF2C):c.1101-3C>T
|
|
|
NM_002397.5(MEF2C):c.1128G>C (p.Gln376His)
|
rs1756837959
|
|
NM_002397.5(MEF2C):c.115T>C (p.Cys39Arg)
|
rs796052729
|
|
NM_002397.5(MEF2C):c.1201C>T (p.Arg401Cys)
|
rs1064797057
|
|
NM_002397.5(MEF2C):c.1202G>A (p.Arg401His)
|
rs2152045243
|
|
NM_002397.5(MEF2C):c.121T>C (p.Cys41Arg)
|
rs794727493
|
|
NM_002397.5(MEF2C):c.1226C>A (p.Pro409Gln)
|
|
|
NM_002397.5(MEF2C):c.126G>C (p.Glu42Asp)
|
rs2153074530
|
|
NM_002397.5(MEF2C):c.1293C>G (p.Tyr431Ter)
|
rs780925017
|
|
NM_002397.5(MEF2C):c.1337C>G (p.Pro446Arg)
|
rs2152042647
|
|
NM_002397.5(MEF2C):c.1360C>A (p.Pro454Thr)
|
|
|
NM_002397.5(MEF2C):c.1380C>T (p.Pro460=)
|
rs1244083930
|
|
NM_002397.5(MEF2C):c.13_14del (p.Lys5fs)
|
rs1554150590
|
|
NM_002397.5(MEF2C):c.1413G>A (p.Trp471Ter)
|
|
|
NM_002397.5(MEF2C):c.1415C>A (p.Ala472Glu)
|
rs1561641773
|
|
NM_002397.5(MEF2C):c.14del (p.Lys5fs)
|
rs1554150590
|
|
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.225G>T (p.Pro75=)
|
rs779924552
|
|
NM_002397.5(MEF2C):c.236G>C (p.Arg79Pro)
|
rs1554139693
|
|
NM_002397.5(MEF2C):c.258+1G>T
|
rs1064797310
|
|
NM_002397.5(MEF2C):c.258+2T>G
|
rs1554139674
|
|
NM_002397.5(MEF2C):c.259-1G>A
|
rs2152674810
|
|
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)
|
rs545185248
|
|
NM_002397.5(MEF2C):c.315T>G (p.Asp105Glu)
|
|
|
NM_002397.5(MEF2C):c.346A>G (p.Lys116Glu)
|
rs1777713411
|
|
NM_002397.5(MEF2C):c.402+106A>G
|
|
|
NM_002397.5(MEF2C):c.403-211A>G
|
rs647983
|
|
NM_002397.5(MEF2C):c.415C>T (p.Pro139Ser)
|
rs2152525975
|
|
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)
|
rs796052728
|
|
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
|
rs1202957297
|
|
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter)
|
rs1554150552
|
|
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer)
|
rs1554150543
|
|
NM_002397.5(MEF2C):c.524C>T (p.Pro175Leu)
|
rs2152524882
|
|
NM_002397.5(MEF2C):c.55-45G>A
|
rs185608147
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
NM_002397.5(MEF2C):c.566_567dup (p.Pro190fs)
|
rs1554112069
|
|
NM_002397.5(MEF2C):c.589+8del
|
|
|
NM_002397.5(MEF2C):c.637+2T>C
|
rs1064793730
|
|
NM_002397.5(MEF2C):c.638-1G>A
|
rs2152281284
|
|
NM_002397.5(MEF2C):c.638-2A>G
|
rs1554102556
|
|
NM_002397.5(MEF2C):c.645G>A (p.Gly215=)
|
rs1406989584
|
|
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter)
|
rs1761818173
|
|
NM_002397.5(MEF2C):c.709C>T (p.Gln237Ter)
|
rs1561698356
|
|
NM_002397.5(MEF2C):c.728del (p.Pro243fs)
|
rs1581392920
|
|
NM_002397.5(MEF2C):c.752G>A (p.Arg251His)
|
rs1761785681
|
|
NM_002397.5(MEF2C):c.799A>G (p.Met267Val)
|
rs1761753278
|
|
NM_002397.5(MEF2C):c.810+191dup
|
rs11439565
|
|
NM_002397.5(MEF2C):c.811-267del
|
rs370988334
|
|
NM_002397.5(MEF2C):c.811-9T>G
|
rs1057521717
|
|
NM_002397.5(MEF2C):c.82T>G (p.Leu28Val)
|
|
|
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer)
|
rs587783749
|
|
NM_002397.5(MEF2C):c.834+182del
|
rs34297769
|
|
NM_002397.5(MEF2C):c.860C>A (p.Ser287Ter)
|
rs777826971
|
|
NM_002397.5(MEF2C):c.908T>G (p.Leu303Ter)
|
|
|
NM_002397.5(MEF2C):c.926dup (p.Gly310fs)
|
rs786200981
|
|
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.965-11C>T
|
rs1043608782
|
|
NM_002397.5(MEF2C):c.992C>T (p.Ser331Leu)
|
|
|