GRCh37/hg19 17q21.31(chr17:42929777-42937911)
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NM_004247.4(EFTUD2):c.1058+1G>A
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rs1085307647
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NM_004247.4(EFTUD2):c.106-1G>C
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rs2051181820
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NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter)
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rs996949678
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NM_004247.4(EFTUD2):c.1149+1G>C
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rs797045550
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NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)
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rs797045551
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NM_004247.4(EFTUD2):c.1331del (p.Gly444fs)
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rs2050697632
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NM_004247.4(EFTUD2):c.1414-2A>G
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rs1597797917
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NM_004247.4(EFTUD2):c.1421del (p.Leu474fs)
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NM_004247.4(EFTUD2):c.1567del (p.Gln523fs)
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rs1555565774
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NM_004247.4(EFTUD2):c.1705C>T (p.Arg569Ter)
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NM_004247.4(EFTUD2):c.1719+1G>A
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rs2145460853
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NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter)
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rs1057520673
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NM_004247.4(EFTUD2):c.1759_1760del (p.Val587fs)
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rs879253725
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NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs)
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rs1135401812
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NM_004247.4(EFTUD2):c.1904dup (p.Tyr636fs)
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NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg)
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rs387906879
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NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter)
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rs1555564341
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NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter)
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rs2145438293
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NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter)
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rs879253726
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NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter)
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rs879253727
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NM_004247.4(EFTUD2):c.2562-2_2562-1del
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rs2050474390
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NM_004247.4(EFTUD2):c.2562-2del
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rs2145431661
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NM_004247.4(EFTUD2):c.2600del (p.Pro867fs)
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rs2050473924
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NM_004247.4(EFTUD2):c.2643_2649del (p.Phe881fs)
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NM_004247.4(EFTUD2):c.2678dup (p.Gln894fs)
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NM_004247.4(EFTUD2):c.2698_2701del (p.Val900fs)
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rs886039349
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NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter)
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rs387906878
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NM_004247.4(EFTUD2):c.2823+1del
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rs879253728
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NM_004247.4(EFTUD2):c.378del (p.Glu127fs)
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rs2051113996
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NM_004247.4(EFTUD2):c.3G>T (p.Met1Ile)
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NM_004247.4(EFTUD2):c.423del (p.Lys142fs)
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NM_004247.4(EFTUD2):c.509_519del (p.Ile170fs)
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NM_004247.4(EFTUD2):c.593dup (p.Tyr198Ter)
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NM_004247.4(EFTUD2):c.623A>G (p.His208Arg)
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rs397515431
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NM_004247.4(EFTUD2):c.702G>T (p.Gly234=)
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rs2051032338
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NM_004247.4(EFTUD2):c.764dup (p.Cys256fs)
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rs794729651
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NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp)
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rs387906877
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NM_004247.4(EFTUD2):c.882del (p.Asp295fs)
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rs1597807512
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