NM_000489.6(ATRX):c.2102G>A (p.Arg701His)
|
rs797044563
|
0.00001
|
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met)
|
rs122445106
|
0.00001
|
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
|
|
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NC_000023.10:g.(?_76937002)_(76972730_?)dup
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NC_000023.10:g.(?_76953051)_(76954137_?)dup
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|
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NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000489.6(ATRX):c.1330C>T (p.Arg444Ter)
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|
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NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
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|
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NM_000489.6(ATRX):c.1558G>T (p.Val520Phe)
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rs1287383551
|
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NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu)
|
rs1060499760
|
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NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter)
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rs891068548
|
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NM_000489.6(ATRX):c.371-2A>G
|
rs1557148369
|
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NM_000489.6(ATRX):c.4506_4507insGTAGAG (p.Glu1502_Arg1503insValGlu)
|
rs2148436383
|
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NM_000489.6(ATRX):c.4509A>T (p.Arg1503Ser)
|
rs1057517997
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NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1])
|
rs797045406
|
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NM_000489.6(ATRX):c.4825C>T (p.His1609Tyr)
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|
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NM_000489.6(ATRX):c.4826A>G (p.His1609Arg)
|
rs122445093
|
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NM_000489.6(ATRX):c.4845C>A (p.Asp1615Glu)
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|
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NM_000489.6(ATRX):c.485-1G>A
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rs2148657465
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NM_000489.6(ATRX):c.485-2A>T
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NM_000489.6(ATRX):c.4957-3A>G
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NM_000489.6(ATRX):c.4957-4A>G
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rs1602979818
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NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)
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|
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NM_000489.6(ATRX):c.5026G>T (p.Gly1676Cys)
|
rs1557106484
|
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NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys)
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rs1602979414
|
|
NM_000489.6(ATRX):c.5072A>C (p.Gln1691Pro)
|
rs1569533321
|
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NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp)
|
rs2068193669
|
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NM_000489.6(ATRX):c.5215C>T (p.Arg1739Ter)
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|
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NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys)
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rs1448764008
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NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp)
|
rs141240580
|
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NM_000489.6(ATRX):c.5281A>G (p.Met1761Val)
|
rs2148260943
|
|
NM_000489.6(ATRX):c.5315C>A (p.Ser1772Tyr)
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|
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NM_000489.6(ATRX):c.533T>A (p.Val178Asp)
|
rs1060499759
|
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NM_000489.6(ATRX):c.5342T>C (p.Ile1781Thr)
|
rs2148259855
|
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NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)
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|
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NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)
|
rs398123425
|
|
NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr)
|
rs1602876401
|
|
NM_000489.6(ATRX):c.5449-7A>G
|
rs2067371776
|
|
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys)
|
rs1057521987
|
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NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe)
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rs1057521987
|
|
NM_000489.6(ATRX):c.565C>T (p.His189Tyr)
|
rs2148656473
|
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NM_000489.6(ATRX):c.568C>G (p.Pro190Ala)
|
rs122445103
|
|
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu)
|
rs1057518708
|
|
NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly)
|
rs122445096
|
|
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
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|
|
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr)
|
rs122445110
|
|
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)
|
rs2148019913
|
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NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)
|
rs1057517948
|
|
NM_000489.6(ATRX):c.6254G>T (p.Arg2085Leu)
|
rs1057517948
|
|
NM_000489.6(ATRX):c.6406G>A (p.Asp2136Asn)
|
rs2064896365
|
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NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)
|
rs1057517707
|
|
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr)
|
rs122445111
|
|
NM_000489.6(ATRX):c.668G>A (p.Cys223Tyr)
|
rs1557142844
|
|
NM_000489.6(ATRX):c.671C>T (p.Ala224Val)
|
|
|
NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr)
|
rs2147761759
|
|
NM_000489.6(ATRX):c.6793G>A (p.Glu2265Lys)
|
|
|
NM_000489.6(ATRX):c.687G>C (p.Leu229Phe)
|
|
|
NM_000489.6(ATRX):c.7147G>C (p.Asp2383His)
|
rs1057518225
|
|
NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter)
|
rs1569515457
|
|
NM_000489.6(ATRX):c.7219C>T (p.Arg2407Ter)
|
rs1557034957
|
|
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp)
|
rs1057524153
|
|
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs)
|
rs797044723
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_000489.6(ATRX):c.737G>T (p.Arg246Leu)
|
rs1603226766
|
|
NM_000489.6(ATRX):c.740A>G (p.Asn247Ser)
|
rs797044865
|
|
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
|
|
|
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter)
|
rs2073481839
|
|
NM_000489.6(ATRX):c.839G>A (p.Cys280Tyr)
|
rs2071439399
|
|