NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg)
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rs755572135
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0.00013
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GRCh37/hg19 17p11.2(chr17:17627289-17627351)x1
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NM_030665.4(RAI1):c.1002del (p.Tyr335fs)
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NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs)
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rs1598088235
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NM_030665.4(RAI1):c.1114dup (p.Tyr372fs)
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rs1131691817
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NM_030665.4(RAI1):c.1348C>T (p.Gln450Ter)
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rs1567917533
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NM_030665.4(RAI1):c.1399_1412del (p.Asn467fs)
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rs2032146977
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NM_030665.4(RAI1):c.1449del (p.Glu484fs)
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NM_030665.4(RAI1):c.1490del (p.Leu497fs)
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rs2032151441
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NM_030665.4(RAI1):c.153T>A (p.Tyr51Ter)
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rs961308480
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NM_030665.4(RAI1):c.1670_1671del (p.Ser557fs)
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rs1555565243
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NM_030665.4(RAI1):c.1690_1691del (p.Met564fs)
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rs886039715
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NM_030665.4(RAI1):c.1692_1693del (p.Met564fs)
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NM_030665.4(RAI1):c.1785dup (p.Arg596fs)
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NM_030665.4(RAI1):c.182_185del (p.Gly61fs)
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rs1598086801
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NM_030665.4(RAI1):c.219_226del (p.Ala74fs)
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NM_030665.4(RAI1):c.2223_2224dup (p.Asn742fs)
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rs2143002175
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NM_030665.4(RAI1):c.2229del (p.Phe744fs)
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NM_030665.4(RAI1):c.2234_2237del (p.Ala745fs)
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rs1555565426
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NM_030665.4(RAI1):c.2273G>A (p.Trp758Ter)
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rs527236033
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NM_030665.4(RAI1):c.2275G>T (p.Gly759Ter)
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rs886041916
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NM_030665.4(RAI1):c.2329del (p.Asp777fs)
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NM_030665.4(RAI1):c.2332_2336del (p.Gly778fs)
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rs878853142
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NM_030665.4(RAI1):c.2386dup (p.Glu796fs)
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NM_030665.4(RAI1):c.238C>T (p.Arg80Ter)
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NM_030665.4(RAI1):c.2396dup (p.Gly800fs)
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rs2032191929
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NM_030665.4(RAI1):c.2472dup (p.Leu825fs)
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rs1555565492
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NM_030665.4(RAI1):c.2538del (p.Thr847fs)
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rs1598090354
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NM_030665.4(RAI1):c.253_271del (p.Leu85fs)
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NM_030665.4(RAI1):c.2613C>A (p.Tyr871Ter)
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rs1555565533
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NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
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NM_030665.4(RAI1):c.2773_2801del (p.Val925fs)
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NM_030665.4(RAI1):c.2802dup (p.Glu935fs)
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rs1598090745
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NM_030665.4(RAI1):c.2875dup (p.Glu959fs)
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NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs)
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rs1135401792
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NM_030665.4(RAI1):c.3096del (p.Gln1035fs)
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rs886044681
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NM_030665.4(RAI1):c.3121del (p.Ala1041fs)
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rs1131691617
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NM_030665.4(RAI1):c.3142_3144delinsCT (p.Ala1048fs)
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rs1555565674
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NM_030665.4(RAI1):c.3179_3180del (p.Leu1060fs)
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rs2032234525
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NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs)
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rs1598091391
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NM_030665.4(RAI1):c.3257dup (p.Lys1087fs)
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NM_030665.4(RAI1):c.3265C>T (p.Arg1089Ter)
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rs757309140
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NM_030665.4(RAI1):c.3281C>A (p.Ser1094Ter)
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rs376044849
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NM_030665.4(RAI1):c.3393_3396del (p.Asp1132fs)
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rs1064796156
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NM_030665.4(RAI1):c.3398C>G (p.Ser1133Ter)
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rs750335388
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NM_030665.4(RAI1):c.3583A>T (p.Lys1195Ter)
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rs727504118
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NM_030665.4(RAI1):c.362_363insT (p.Trp121fs)
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rs2032092446
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NM_030665.4(RAI1):c.367del (p.Ala123fs)
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rs1290537273
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NM_030665.4(RAI1):c.3681del (p.Phe1228fs)
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rs1598092034
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NM_030665.4(RAI1):c.3801del (p.Thr1268fs)
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rs1598092236
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NM_030665.4(RAI1):c.3937dup (p.Ala1313fs)
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NM_030665.4(RAI1):c.412del (p.Val138fs)
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rs398124419
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NM_030665.4(RAI1):c.4271del (p.Phe1424fs)
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rs2143002950
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NM_030665.4(RAI1):c.4317dup (p.Thr1440fs)
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NM_030665.4(RAI1):c.4432C>T (p.Arg1478Ter)
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rs753540389
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NM_030665.4(RAI1):c.4432del (p.Arg1478fs)
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rs2032300575
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NM_030665.4(RAI1):c.4455_4456del (p.Ala1487fs)
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rs2032302357
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NM_030665.4(RAI1):c.4525del (p.Gln1509fs)
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rs2143003068
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NM_030665.4(RAI1):c.4573C>T (p.Gln1525Ter)
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NM_030665.4(RAI1):c.459dup (p.Ser154fs)
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NM_030665.4(RAI1):c.466C>T (p.Gln156Ter)
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NM_030665.4(RAI1):c.4673dup (p.Arg1559fs)
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rs1555566042
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NM_030665.4(RAI1):c.4678C>T (p.Arg1560Ter)
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rs727504119
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NM_030665.4(RAI1):c.4681C>T (p.Arg1561Ter)
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rs750728463
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NM_030665.4(RAI1):c.4685A>G (p.Gln1562Arg)
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rs104894634
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NM_030665.4(RAI1):c.4801del (p.Val1601fs)
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NM_030665.4(RAI1):c.4810C>T (p.Arg1604Ter)
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NM_030665.4(RAI1):c.4814del (p.Asp1605fs)
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rs1598093659
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NM_030665.4(RAI1):c.4884del (p.Ser1629fs)
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rs1555566124
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NM_030665.4(RAI1):c.5110_5116del (p.Gly1704fs)
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NM_030665.4(RAI1):c.5145_5146del (p.Lys1716fs)
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NM_030665.4(RAI1):c.5176G>T (p.Glu1726Ter)
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NM_030665.4(RAI1):c.5182del (p.Thr1728fs)
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rs1064796209
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NM_030665.4(RAI1):c.5265del (p.Arg1756fs)
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NM_030665.4(RAI1):c.5265dup (p.Arg1756fs)
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NM_030665.4(RAI1):c.5423G>A (p.Ser1808Asn)
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rs104894633
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NM_030665.4(RAI1):c.5626dup (p.His1876fs)
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NM_030665.4(RAI1):c.573delinsTACCCC (p.Gln191fs)
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rs2032102818
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NM_030665.4(RAI1):c.640C>T (p.Gln214Ter)
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NM_030665.4(RAI1):c.647del (p.Phe216fs)
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NM_030665.4(RAI1):c.837_841delinsAT (p.Gln280_Gln281delinsTer)
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rs2143001748
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NM_030665.4(RAI1):c.847C>T (p.Gln283Ter)
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rs2032120646
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NM_030665.4(RAI1):c.848_851del (p.Gln283fs)
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NM_030665.4(RAI1):c.853C>T (p.Gln285Ter)
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NM_030665.4(RAI1):c.856C>T (p.Gln286Ter)
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NM_030665.4(RAI1):c.860_861del (p.Gln287fs)
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rs2143001767
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NM_030665.4(RAI1):c.868C>T (p.Gln290Ter)
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rs771803841
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