NM_000215.4(JAK3):c.2680+3G>C
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rs749481781
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0.00003
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NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter)
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rs267605358
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0.00001
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NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter)
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rs1011307501
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0.00001
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NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter)
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rs137852625
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0.00001
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NM_000215.4(JAK3):c.2311C>T (p.Arg771Ter)
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rs1198251679
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0.00001
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NM_000215.4(JAK3):c.307C>T (p.Arg103Cys)
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rs761583890
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0.00001
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NM_000215.4(JAK3):c.308G>A (p.Arg103His)
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rs774202259
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0.00001
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NM_000215.4(JAK3):c.3208-1G>A
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rs1160856608
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0.00001
|
JAK3, 151-BP DEL
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|
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NC_000019.9:g.(?_17940897)_(17943758_?)del
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NM_000215.3(JAK3):c.1561_1564delinsTGAC (p.Leu521_Glu522delinsTer)
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rs1568404443
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NM_000215.3(JAK3):c.[1796T>G;2125T>A]
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NM_000215.4(JAK3):c.1019C>A (p.Ser340Ter)
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rs2094238720
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NM_000215.4(JAK3):c.101del (p.Gly34fs)
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NM_000215.4(JAK3):c.1142+1G>C
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rs1232129873
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NM_000215.4(JAK3):c.1142+1G>T
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NM_000215.4(JAK3):c.115del (p.Gln39fs)
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rs755706305
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NM_000215.4(JAK3):c.115dup (p.Gln39fs)
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NM_000215.4(JAK3):c.1165del (p.Leu389fs)
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NM_000215.4(JAK3):c.1178dup (p.Ser394fs)
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rs2094235007
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NM_000215.4(JAK3):c.123_126del (p.Phe43fs)
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NM_000215.4(JAK3):c.1254+2T>A
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rs2147692665
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NM_000215.4(JAK3):c.1255-1G>A
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NM_000215.4(JAK3):c.1280del (p.Gly427fs)
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NM_000215.4(JAK3):c.1284C>A (p.Cys428Ter)
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NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter)
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rs137852626
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NM_000215.4(JAK3):c.1383dup (p.Leu462fs)
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rs2147691124
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NM_000215.4(JAK3):c.1432dup (p.Arg478fs)
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rs769633203
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NM_000215.4(JAK3):c.1476del (p.His492fs)
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|
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NM_000215.4(JAK3):c.1569G>A (p.Trp523Ter)
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NM_000215.4(JAK3):c.1688_1693delinsTGGAGGTGAGA (p.Lys563fs)
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rs1599873591
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NM_000215.4(JAK3):c.1701+1G>A
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NM_000215.4(JAK3):c.1701+2T>A
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rs2147687373
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NM_000215.4(JAK3):c.172_174del (p.Ala58del)
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rs137852627
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NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)
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rs193922361
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NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)
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|
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NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser)
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rs886039394
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NM_000215.4(JAK3):c.1786+3G>T
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|
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NM_000215.4(JAK3):c.1837C>T (p.Arg613Ter)
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rs149316157
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NM_000215.4(JAK3):c.1869G>A (p.Trp623Ter)
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|
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NM_000215.4(JAK3):c.1888C>T (p.Gln630Ter)
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NM_000215.4(JAK3):c.1951C>T (p.Arg651Trp)
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NM_000215.4(JAK3):c.2028del (p.Ala677fs)
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NM_000215.4(JAK3):c.2263del (p.Leu754_Leu755insTer)
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NM_000215.4(JAK3):c.2272C>T (p.Gln758Ter)
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NM_000215.4(JAK3):c.2319_2325dup (p.Asp776delinsHisSerTer)
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|
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NM_000215.4(JAK3):c.2324G>A (p.Arg775His)
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rs1251299279
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NM_000215.4(JAK3):c.2350G>A (p.Asp784Asn)
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|
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NM_000215.4(JAK3):c.235_242dup (p.Trp81fs)
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NM_000215.4(JAK3):c.2408G>A (p.Trp803Ter)
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NM_000215.4(JAK3):c.2419C>T (p.Gln807Ter)
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NM_000215.4(JAK3):c.2477C>G (p.Ser826Ter)
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NM_000215.4(JAK3):c.2523_2532del (p.Arg840_Tyr841insTer)
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NM_000215.4(JAK3):c.2552del (p.Leu851fs)
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NM_000215.4(JAK3):c.2680+89G>A
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NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter)
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NM_000215.4(JAK3):c.2743C>T (p.Gln915Ter)
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NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
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NM_000215.4(JAK3):c.2787T>G (p.Tyr929Ter)
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|
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NM_000215.4(JAK3):c.2933_2934del (p.Lys978fs)
|
rs1380154594
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NM_000215.4(JAK3):c.2979G>A (p.Trp993Ter)
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|
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NM_000215.4(JAK3):c.2989G>T (p.Glu997Ter)
|
rs1568400897
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NM_000215.4(JAK3):c.299A>G (p.Tyr100Cys)
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rs137852624
|
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NM_000215.4(JAK3):c.3008TCT[1] (p.Phe1004del)
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|
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NM_000215.4(JAK3):c.3032G>A (p.Trp1011Ter)
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rs2147674587
|
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NM_000215.4(JAK3):c.3071_3072delinsAA (p.Cys1024Ter)
|
|
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NM_000215.4(JAK3):c.3085dup (p.Ser1029fs)
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|
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NM_000215.4(JAK3):c.3103del (p.Leu1035fs)
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rs1424732031
|
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NM_000215.4(JAK3):c.3371_3372insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGCCCTGGGCCGCAGCGCAGCCGCGCAAACCACCACCCGCGGCCACCATGGCCGGACAGTATAATTTCCCCTGTCCTTTTC (p.Ser1124_Ter1125insPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuGlyArgSerAlaAlaAlaGlnThrThrThrArgGlyHisHisGlyArgThrValTer)
|
|
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NM_000215.4(JAK3):c.507C>A (p.Asp169Glu)
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rs147181709
|
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NM_000215.4(JAK3):c.523C>T (p.Arg175Ter)
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|
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NM_000215.4(JAK3):c.548del (p.Glu183fs)
|
|
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NM_000215.4(JAK3):c.578G>A (p.Cys193Tyr)
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rs1467075214
|
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NM_000215.4(JAK3):c.607C>T (p.Gln203Ter)
|
|
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NM_000215.4(JAK3):c.664_670del (p.Arg222fs)
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|
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NM_000215.4(JAK3):c.678_679del (p.Cys227fs)
|
rs193922364
|
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NM_000215.4(JAK3):c.722_723insAGGA (p.Asp241fs)
|
|
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NM_000215.4(JAK3):c.862-2A>G
|
rs1057523762
|
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NM_000215.4(JAK3):c.904_908dup (p.Lys304fs)
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|
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NM_000215.4(JAK3):c.913C>T (p.Gln305Ter)
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rs786205517
|
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NM_000215.4(JAK3):c.936dup (p.Gly313fs)
|
|
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NM_000215.4(JAK3):c.958_959del (p.Val320fs)
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|
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NM_000215.4(JAK3):c.970_973del (p.Asp324fs)
|
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