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.811-13C>T
|
rs201988423
|
0.00113
|
NM_002397.5(MEF2C):c.834+15C>T
|
rs140447603
|
0.00097
|
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_001131005.2(MEF2C):c.-143+6T>C
|
rs749992711
|
0.00027
|
NM_002397.5(MEF2C):c.*16C>G
|
rs200087574
|
0.00023
|
NM_002397.5(MEF2C):c.-42T>C
|
rs371238107
|
0.00019
|
NM_002397.5(MEF2C):c.*3046G>A
|
rs563346285
|
0.00018
|
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.363C>T (p.Asn121=)
|
rs186648089
|
0.00008
|
NM_002397.5(MEF2C):c.1332C>T (p.His444=)
|
rs376439815
|
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.402+208A>G
|
rs764312143
|
0.00003
|
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr)
|
rs797045703
|
0.00001
|
NM_002397.5(MEF2C):c.499C>T (p.Pro167Ser)
|
rs1322552264
|
0.00001
|
NM_002397.5(MEF2C):c.730A>G (p.Met244Val)
|
rs752349182
|
0.00001
|
NM_002397.5(MEF2C):c.963C>T (p.Thr321=)
|
rs1363064582
|
0.00001
|
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(chr5:88162245-88177599)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_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.*2267dup
|
rs3841444
|
|
NM_002397.5(MEF2C):c.*32del
|
rs56660854
|
|
NM_002397.5(MEF2C):c.-143+89A>G
|
rs10044342
|
|
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln)
|
rs796052727
|
|
NM_002397.5(MEF2C):c.1087C>T (p.Leu363Phe)
|
rs2152207244
|
|
NM_002397.5(MEF2C):c.1100+6C>G
|
rs1759908843
|
|
NM_002397.5(MEF2C):c.1331A>C (p.His444Pro)
|
rs1554098567
|
|
NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala)
|
rs1194300256
|
|
NM_002397.5(MEF2C):c.375T>G (p.Asp125Glu)
|
rs2152673396
|
|
NM_002397.5(MEF2C):c.403-211A>G
|
rs647983
|
|
NM_002397.5(MEF2C):c.439A>G (p.Ile147Val)
|
|
|
NM_002397.5(MEF2C):c.539A>G (p.Asn180Ser)
|
|
|
NM_002397.5(MEF2C):c.557T>C (p.Val186Ala)
|
rs1561821810
|
|
NM_002397.5(MEF2C):c.589G>C (p.Gly197Arg)
|
rs1310323196
|
|
NM_002397.5(MEF2C):c.638-14dup
|
rs754587449
|
|
NM_002397.5(MEF2C):c.638-9del
|
|
|
NM_002397.5(MEF2C):c.694T>G (p.Leu232Val)
|
rs2152280607
|
|
NM_002397.5(MEF2C):c.810+191dup
|
rs11439565
|
|
NM_002397.5(MEF2C):c.834+182del
|
rs34297769
|
|
NM_002397.5(MEF2C):c.965-6_965-2del
|
rs1064795146
|
|