NM_181458.4(PAX3):c.706C>A (p.Arg236Ser)
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rs769650688
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0.00001
|
NM_181458.4(PAX3):c.808C>T (p.Arg270Cys)
|
rs1228590199
|
0.00001
|
GRCh37/hg19 2q36.1(chr2:222199886-222298997)
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GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516)
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NM_006941.4(SOX10):c.1160_1179dup (p.Ser394fs)
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rs1601878759
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NM_006941.4(SOX10):c.267del (p.Met90fs)
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rs2145777226
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NM_006941.4(SOX10):c.299_300insA (p.Ser100fs)
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rs2145777129
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NM_006941.4(SOX10):c.336G>A (p.Met112Ile)
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rs2145777042
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NM_006941.4(SOX10):c.366_376del (p.Ala123fs)
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rs2145776991
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NM_181457.3(PAX3):c.242G>C (p.Gly81Ala)
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rs587776586
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NM_181458.4(PAX3):c.*175C>T
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rs780660984
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NM_181458.4(PAX3):c.1076_1077del (p.Thr359fs)
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rs1574646155
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NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter)
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rs147111779
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NM_181458.4(PAX3):c.123del (p.Gly42fs)
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rs2106204266
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NM_181458.4(PAX3):c.127G>T (p.Gly43Cys)
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rs1574772091
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NM_181458.4(PAX3):c.142G>C (p.Gly48Arg)
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rs1419548558
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NM_181458.4(PAX3):c.143del (p.Gly48fs)
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rs1695346408
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NM_181458.4(PAX3):c.149C>T (p.Pro50Leu)
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rs104893650
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NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)
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rs267606931
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NM_181458.4(PAX3):c.185_202del (p.Met62_Ile67del)
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rs1559320436
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NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)
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rs1356246522
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NM_181458.4(PAX3):c.218C>T (p.Ser73Leu)
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rs1553593928
|
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NM_181458.4(PAX3):c.238C>G (p.His80Asp)
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rs387906947
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NM_181458.4(PAX3):c.238C>T (p.His80Tyr)
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|
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NM_181458.4(PAX3):c.241G>C (p.Gly81Arg)
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rs483353059
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NM_181458.4(PAX3):c.251C>T (p.Ser84Phe)
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rs104893651
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NM_181458.4(PAX3):c.264del (p.Leu87_Cys88insTer)
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rs1695337485
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NM_181458.4(PAX3):c.268_281del (p.Tyr90fs)
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rs1559320252
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NM_181458.4(PAX3):c.288del (p.Arg97fs)
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|
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NM_181458.4(PAX3):c.365_369del (p.Lys122fs)
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rs1559318562
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NM_181458.4(PAX3):c.366_367del (p.Asn125fs)
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rs2106200406
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NM_181458.4(PAX3):c.372_373del (p.Asn125fs)
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rs2106200388
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NM_181458.4(PAX3):c.415A>T (p.Lys139Ter)
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rs876661317
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NM_181458.4(PAX3):c.556del (p.His186fs)
|
rs1559316542
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NM_181458.4(PAX3):c.558_559del (p.His186fs)
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rs1559316535
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NM_181458.4(PAX3):c.586+2T>A
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rs2106196576
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NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)
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rs772241382
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NM_181458.4(PAX3):c.671C>T (p.Thr224Ile)
|
rs1692623308
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NM_181458.4(PAX3):c.713T>C (p.Phe238Ser)
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rs2106095147
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NM_181458.4(PAX3):c.784C>T (p.Arg262Ter)
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rs886041319
|
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NM_181458.4(PAX3):c.811C>T (p.Arg271Cys)
|
rs1380858784
|
|
NM_181458.4(PAX3):c.812G>A (p.Arg271His)
|
rs774528745
|
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NM_181458.4(PAX3):c.879dup (p.Phe294fs)
|
rs1553572967
|
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NM_181458.4(PAX3):c.925dup (p.Glu309fs)
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rs1692180906
|
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