NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
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rs45439799
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0.00663
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NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met)
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rs122445106
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0.00001
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NC_000023.10:g.(?_76759356)_(77042755_?)del
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NC_000023.10:g.(?_76763809)_(77041507_?)del
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NC_000023.10:g.(?_76763829)_(76776414_?)del
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NC_000023.10:g.(?_76937002)_(76940508_?)del
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NC_000023.10:g.(?_76944291)_(76972740_?)del
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NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
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rs122445108
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NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)
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NM_000489.6(ATRX):c.134-4884_242+41del
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NM_000489.6(ATRX):c.158del (p.Asn53fs)
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rs2148685852
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NM_000489.6(ATRX):c.161_162del (p.Asn53_Ser54insTer)
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NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter)
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rs2071372283
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NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter)
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rs2071372283
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NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter)
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rs1557140492
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NM_000489.6(ATRX):c.2169_2170del (p.Glu723fs)
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NM_000489.6(ATRX):c.2431del (p.Gln811fs)
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NM_000489.6(ATRX):c.2678dup (p.Thr894fs)
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rs2148591494
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NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)
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NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)
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NM_000489.6(ATRX):c.3089_3099del (p.Lys1030fs)
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NM_000489.6(ATRX):c.399_400dup (p.Leu134fs)
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NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter)
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rs2070037318
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NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer)
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rs2070034528
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NM_000489.6(ATRX):c.4317G>A (p.Lys1439=)
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rs1569535642
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NM_000489.6(ATRX):c.4558-3T>G
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rs1602996115
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NM_000489.6(ATRX):c.477del (p.Lys159fs)
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rs1603240572
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NM_000489.6(ATRX):c.4826A>G (p.His1609Arg)
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rs122445093
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NM_000489.6(ATRX):c.4840T>C (p.Cys1614Arg)
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rs122445094
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NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val)
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rs1135401793
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NM_000489.6(ATRX):c.4950G>T (p.Lys1650Asn)
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rs122445095
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NM_000489.6(ATRX):c.5039T>C (p.Ile1680Thr)
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rs1557106482
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NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys)
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rs122445104
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NM_000489.6(ATRX):c.5273-10T>A
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rs2148261114
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NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)
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rs398123425
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NM_000489.6(ATRX):c.568C>G (p.Pro190Ala)
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rs122445103
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NM_000489.6(ATRX):c.6104A>T (p.Asp2035Val)
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rs122445096
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NM_000489.6(ATRX):c.6122G>A (p.Ser2041Asn)
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rs1060499658
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NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)
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rs2148020083
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NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His)
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rs122445097
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NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)
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rs1057517948
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NM_000489.6(ATRX):c.6331C>T (p.Arg2111Ter)
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NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln)
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rs122445101
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NM_000489.6(ATRX):c.6488A>G (p.Tyr2163Cys)
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rs122445098
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NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)
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rs1057517707
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NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter)
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rs1557041077
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NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)
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rs122445099
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NM_000489.6(ATRX):c.7162G>T (p.Glu2388Ter)
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rs122445100
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NM_000489.6(ATRX):c.7205del (p.Ile2402fs)
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rs1569513017
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NM_000489.6(ATRX):c.7366dup (p.Met2456fs)
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NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
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rs122445105
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NM_000489.6(ATRX):c.751A>G (p.Lys251Glu)
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rs1569539477
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NM_000489.6(ATRX):c.809C>T (p.Pro270Leu)
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rs2148637532
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