GRCh37/hg19 5q14.3(chr5:88041931-88078617)x1
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GRCh37/hg19 5q14.3(chr5:88119552-88119605)x1
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NM_002397.4(MEF2C):c.-510_-497delTCTTCCTCCTCCTC
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rs1085307051
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NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)
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rs2153074771
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NM_002397.5(MEF2C):c.104T>G (p.Leu35Arg)
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rs2153074771
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NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg)
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NM_002397.5(MEF2C):c.106A>G (p.Ser36Gly)
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rs2153074738
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NM_002397.5(MEF2C):c.1095G>C (p.Gln365His)
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rs1581321362
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NM_002397.5(MEF2C):c.1201C>T (p.Arg401Cys)
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rs1064797057
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NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
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NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)
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rs1799660837
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NM_002397.5(MEF2C):c.13_14del (p.Lys5fs)
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rs1554150590
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NM_002397.5(MEF2C):c.1412G>A (p.Trp471Ter)
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NM_002397.5(MEF2C):c.1420T>A (p.Ter474Arg)
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rs1227804681
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NM_002397.5(MEF2C):c.14del (p.Lys5fs)
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rs1554150590
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NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys)
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rs2153074319
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NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg)
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rs1554139743
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NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn)
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rs2153222922
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NM_002397.5(MEF2C):c.194T>G (p.Val65Gly)
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rs1580988074
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NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)
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NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)
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NM_002397.5(MEF2C):c.236G>C (p.Arg79Pro)
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rs1554139693
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NM_002397.5(MEF2C):c.258+1G>A
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rs1064797310
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NM_002397.5(MEF2C):c.258+1G>T
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rs1064797310
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NM_002397.5(MEF2C):c.258+5G>C
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rs2153073717
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NM_002397.5(MEF2C):c.258G>A (p.Glu86=)
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rs796052724
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NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)
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rs545185248
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NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)
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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+146C>A
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rs1358670337
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NM_002397.5(MEF2C):c.402+184del
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rs2152669802
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NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)
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rs796052728
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NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
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rs1202957297
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NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter)
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rs1772953161
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NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
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rs587783747
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NM_002397.5(MEF2C):c.58A>T (p.Thr20Ser)
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rs1554139870
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NM_002397.5(MEF2C):c.637+1G>C
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rs2152497250
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NM_002397.5(MEF2C):c.637+1G>T
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NM_002397.5(MEF2C):c.638-1G>A
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rs2152281284
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NM_002397.5(MEF2C):c.65C>G (p.Thr22Arg)
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rs1580990072
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NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)
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rs797045053
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NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys)
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rs869312698
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NM_002397.5(MEF2C):c.728dup (p.Met244fs)
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NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
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NM_002397.5(MEF2C):c.810+2T>C
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NM_002397.5(MEF2C):c.811-9T>G
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rs1057521717
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NM_002397.5(MEF2C):c.835-2A>G
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NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr)
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NM_002397.5(MEF2C):c.908T>G (p.Leu303Ter)
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