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GRCh38/hg38 Xq21.1(chrX:77490616-77524711)x1
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NM_000489.5(ATRX):c.1033G>A (p.Ala345Thr)
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rs149249195 |
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NM_000489.5(ATRX):c.1169G>A (p.Arg390His)
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rs367986587 |
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NM_000489.5(ATRX):c.1236C>A (p.Asp412Glu)
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rs951634317 |
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NM_000489.5(ATRX):c.1252C>G (p.Arg418Gly)
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rs1057523785 |
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NM_000489.5(ATRX):c.134-9C>T
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rs782350220 |
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NM_000489.5(ATRX):c.1438A>G (p.Thr480Ala)
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rs587780284 |
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NM_000489.5(ATRX):c.1478A>G (p.His493Arg)
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rs947189709 |
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NM_000489.5(ATRX):c.1608G>T (p.Met536Ile)
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rs1057518436 |
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NM_000489.5(ATRX):c.1738del (p.Ala580fs)
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rs886039493 |
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NM_000489.5(ATRX):c.189+7A>G
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rs781842591 |
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NM_000489.5(ATRX):c.2066A>G (p.Gln689Arg)
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rs929951326 |
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NM_000489.5(ATRX):c.2461_2466del (p.Leu821_Glu822del)
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rs781862926 |
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NM_000489.5(ATRX):c.259A>G (p.Thr87Ala)
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rs1557150036 |
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NM_000489.5(ATRX):c.2617G>C (p.Glu873Gln)
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rs967071645 |
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NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro)
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rs145807475 |
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NM_000489.5(ATRX):c.278A>T (p.Asp93Val)
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rs1064796774 |
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NM_000489.5(ATRX):c.2875G>T (p.Asp959Tyr)
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rs1057523431 |
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NM_000489.5(ATRX):c.3224A>G (p.Asp1075Gly)
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rs1064796745 |
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NM_000489.5(ATRX):c.3495_3500del (p.Asn1165_Lys1166del)
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rs1557137281 |
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NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu)
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rs61758732 |
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NM_000489.5(ATRX):c.3655G>A (p.Gly1219Arg)
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rs1057524797 |
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NM_000489.5(ATRX):c.3670C>G (p.Gln1224Glu)
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rs1057522687 |
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NM_000489.5(ATRX):c.371-2A>G
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rs1557148369 |
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NM_000489.5(ATRX):c.4031A>G (p.Lys1344Arg)
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rs782556767 |
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NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg)
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rs1064796812 |
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NM_000489.5(ATRX):c.4312A>G (p.Asn1438Asp)
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rs971839925 |
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NM_000489.5(ATRX):c.4365_4367GGA[4] (p.Glu1464del)
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rs398123423 |
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NM_000489.5(ATRX):c.4509A>T (p.Arg1503Ser)
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rs1057517997 |
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NM_000489.5(ATRX):c.4557+33G>A
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rs5912716 |
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NM_000489.5(ATRX):c.4810-19A>G
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rs1557106791 |
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NM_000489.5(ATRX):c.4905G>T (p.Met1635Ile)
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rs1045875195 |
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NM_000489.5(ATRX):c.5087_5089dup (p.Lys1696dup)
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rs1557106446 |
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NM_000489.5(ATRX):c.517G>A (p.Ala173Thr)
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rs1064795090 |
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NM_000489.5(ATRX):c.5212A>G (p.Ile1738Val)
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rs1057523890 |
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NM_000489.5(ATRX):c.536A>G (p.Asn179Ser)
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rs398123425 |
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NM_000489.5(ATRX):c.5540A>T (p.Tyr1847Phe)
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rs1057521987 |
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NM_000489.5(ATRX):c.5697+13A>C
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rs782387510 |
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NM_000489.5(ATRX):c.5722G>T (p.Asp1908Tyr)
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rs1057522290 |
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NM_000489.5(ATRX):c.5787-24GTTT[4]
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rs782072699 |
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NM_000489.5(ATRX):c.5957-1G>A
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rs886041903 |
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NM_000489.5(ATRX):c.599G>T (p.Cys200Phe)
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rs886041700 |
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NM_000489.5(ATRX):c.6097A>G (p.Ile2033Val)
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rs1057521636 |
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NM_000489.5(ATRX):c.6202C>T (p.Pro2068Ser)
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rs1557079194 |
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NM_000489.5(ATRX):c.6254G>A (p.Arg2085His)
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rs1057517948 |
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NM_000489.5(ATRX):c.631C>T (p.Arg211Cys)
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rs782241890 |
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NM_000489.5(ATRX):c.6464G>A (p.Gly2155Glu)
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rs1057518599 |
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NM_000489.5(ATRX):c.6532C>T (p.Arg2178Trp)
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rs1057517707 |
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NM_000489.5(ATRX):c.654A>G (p.Glu218=)
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rs782378258 |
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NM_000489.5(ATRX):c.668G>A (p.Cys223Tyr)
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rs1557142844 |
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NM_000489.5(ATRX):c.7072-8T>C
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rs782602387 |
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NM_000489.5(ATRX):c.7141G>A (p.Glu2381Lys)
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rs1557041077 |
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NM_000489.5(ATRX):c.7147G>C (p.Asp2383His)
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rs1057518225 |
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NM_000489.5(ATRX):c.7219C>T (p.Arg2407Ter)
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rs1557034957 |
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NM_000489.5(ATRX):c.7233C>T (p.Asn2411=)
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rs1557034927 |
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NM_000489.5(ATRX):c.729C>G (p.Cys243Trp)
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rs1057524153 |
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NM_000489.5(ATRX):c.7334T>A (p.Ile2445Asn)
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rs1057520923 |
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NM_000489.5(ATRX):c.7364_7365AT[1] (p.Met2456fs)
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rs797044723 |
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NM_000489.5(ATRX):c.736C>T (p.Arg246Cys)
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rs122445105 |
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NM_000489.5(ATRX):c.847G>A (p.Val283Ile)
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rs1057522580 |
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NM_000489.5(ATRX):c.884_886AGA[2] (p.Lys297del)
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rs1064795918 |