GRCh37/hg19 17p13.3(chr17:2575949-2579900)x1
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NC_000017.10:g.(?_2541583)_(2573645_?)del
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NC_000017.10:g.(?_2568646)_(2570512_?)del
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NC_000017.10:g.(?_2568646)_(2579920_?)dup
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NC_000017.10:g.(?_2568646)_(2585096_?)del
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NC_000017.10:g.(?_2573437)_(2573645_?)del
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NC_000017.10:g.(?_2573437)_(2576071_?)del
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NM_000430.4(PAFAH1B1):c.1002+1G>C
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NM_000430.4(PAFAH1B1):c.1009_1022del (p.His337fs)
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rs2151673809
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NM_000430.4(PAFAH1B1):c.1011del (p.His337fs)
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rs2151673826
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NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs)
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rs797045855
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NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs)
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rs113994200
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NM_000430.4(PAFAH1B1):c.1112del (p.Arg371fs)
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NM_000430.4(PAFAH1B1):c.1145_1146del (p.Phe382fs)
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NM_000430.4(PAFAH1B1):c.1159+1G>A
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rs1057520515
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NM_000430.4(PAFAH1B1):c.1159+2T>A
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rs587784243
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NM_000430.4(PAFAH1B1):c.1159+5del
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rs886041664
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NM_000430.4(PAFAH1B1):c.117+1G>C
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rs2151659413
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NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs)
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rs587784253
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NM_000430.4(PAFAH1B1):c.154del (p.Glu52fs)
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NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs)
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rs113994198
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NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)
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rs113994198
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NM_000430.4(PAFAH1B1):c.164G>A (p.Trp55Ter)
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rs757993270
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NM_000430.4(PAFAH1B1):c.178A>T (p.Arg60Ter)
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NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)
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rs121434489
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NM_000430.4(PAFAH1B1):c.247_250dup (p.Pro84fs)
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rs2151660952
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NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter)
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rs587784258
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NM_000430.4(PAFAH1B1):c.277G>T (p.Glu93Ter)
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NM_000430.4(PAFAH1B1):c.306T>G (p.Tyr102Ter)
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NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter)
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rs886041341
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NM_000430.4(PAFAH1B1):c.427G>T (p.Glu143Ter)
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rs2151663964
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NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter)
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rs587784267
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NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs)
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rs797045861
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NM_000430.4(PAFAH1B1):c.446A>G (p.His149Arg)
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rs121434482
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NM_000430.4(PAFAH1B1):c.455_456del (p.Ser152fs)
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rs587784268
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NM_000430.4(PAFAH1B1):c.569-10T>C
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rs113994202
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NM_000430.4(PAFAH1B1):c.569-6T>C
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NM_000430.4(PAFAH1B1):c.62C>G (p.Ser21Ter)
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rs1567554574
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NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter)
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rs587784273
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NM_000430.4(PAFAH1B1):c.643del (p.Thr215fs)
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rs2151666409
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NM_000430.4(PAFAH1B1):c.647_648del (p.Ile216fs)
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rs587784275
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NM_000430.4(PAFAH1B1):c.656G>A (p.Trp219Ter)
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rs2151666445
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NM_000430.4(PAFAH1B1):c.699_700del (p.His233fs)
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NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs)
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rs797045865
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NM_000430.4(PAFAH1B1):c.708G>A (p.Trp236Ter)
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rs2151667800
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NM_000430.4(PAFAH1B1):c.743_746dup (p.Ala250fs)
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rs2069227856
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NM_000430.4(PAFAH1B1):c.794del (p.Thr265fs)
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rs2151667927
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NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter)
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rs121434483
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NM_000430.4(PAFAH1B1):c.826G>T (p.Glu276Ter)
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rs886039665
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NM_000430.4(PAFAH1B1):c.842del (p.Cys281fs)
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NM_000430.4(PAFAH1B1):c.843C>A (p.Cys281Ter)
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rs2151667999
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NM_000430.4(PAFAH1B1):c.852G>A (p.Trp284Ter)
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rs1567559851
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NM_000430.4(PAFAH1B1):c.900+1G>A
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rs587784290
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NM_000430.4(PAFAH1B1):c.907_910del (p.Lys303fs)
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rs587784292
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NM_000430.4(PAFAH1B1):c.954_955del (p.Lys318fs)
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rs2151669999
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NM_000430.4(PAFAH1B1):c.957_961delinsATCTTAAT (p.Ile320_Lys321delinsSerTer)
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rs1064793990
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