NC_000017.11:g.2665367T>C
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NM_000430.4(PAFAH1B1):c.1002+1G>A
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rs113994203
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NM_000430.4(PAFAH1B1):c.1002+5G>A
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rs587784235
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NM_000430.4(PAFAH1B1):c.1003-30_1032del
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rs1555527743
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NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr)
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rs587784236
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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.1024_1031del (p.Arg342fs)
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rs587784237
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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.1050dup (p.Lys351fs)
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rs113994200
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NM_000430.4(PAFAH1B1):c.1063del (p.Ser355fs)
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rs587784238
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NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn)
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rs587784239
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NM_000430.4(PAFAH1B1):c.1083_1084dup (p.Leu362fs)
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rs2151673946
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NM_000430.4(PAFAH1B1):c.1100del (p.Tyr367fs)
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rs587784240
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NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter)
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rs587784241
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NM_000430.4(PAFAH1B1):c.1135C>T (p.His379Tyr)
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rs587784242
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NM_000430.4(PAFAH1B1):c.1136A>G (p.His379Arg)
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rs2151674034
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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.1159G>T (p.Asp387Tyr)
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rs587784244
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NM_000430.4(PAFAH1B1):c.1165C>T (p.His389Tyr)
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rs587784245
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NM_000430.4(PAFAH1B1):c.1196G>C (p.Ser399Thr)
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rs587784248
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NM_000430.4(PAFAH1B1):c.1201G>C (p.Asp401His)
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rs587784249
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NM_000430.4(PAFAH1B1):c.1233A>C (p.Ter411Cys)
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rs587784251
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NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs)
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rs587784252
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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.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.163T>A (p.Trp55Arg)
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rs587784254
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NM_000430.4(PAFAH1B1):c.177del (p.Arg60fs)
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rs1555526309
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NM_000430.4(PAFAH1B1):c.190_192+5dup
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rs797045857
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NM_000430.4(PAFAH1B1):c.192+1G>A
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rs587784256
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NM_000430.4(PAFAH1B1):c.192+1G>T
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rs587784256
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NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn)
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rs587784257
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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.265C>T (p.Arg89Ter)
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rs587784258
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NM_000430.4(PAFAH1B1):c.288_289dup (p.Arg97fs)
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rs797045858
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NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter)
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rs587784259
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NM_000430.4(PAFAH1B1):c.33-3C>T
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rs587784260
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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.347dup (p.His117fs)
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rs797045859
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NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp)
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rs587784261
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NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter)
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rs587784262
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NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val)
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rs587784263
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NM_000430.4(PAFAH1B1):c.399+1G>A
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rs587784264
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NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile)
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rs587784265
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NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter)
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rs587784266
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NM_000430.4(PAFAH1B1):c.425T>C (p.Phe142Ser)
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rs2151663957
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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.460C>T (p.Gln154Ter)
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rs587784269
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NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser)
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rs121434487
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NM_000430.4(PAFAH1B1):c.514dup (p.Met172fs)
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rs1555526718
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NM_000430.4(PAFAH1B1):c.523A>T (p.Lys175Ter)
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rs797045061
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NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs)
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rs587784270
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NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs)
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rs587784271
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NM_000430.4(PAFAH1B1):c.537dup (p.Gln180fs)
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rs587784271
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NM_000430.4(PAFAH1B1):c.568+1G>A
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rs1555526733
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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.56T>G (p.Leu19Arg)
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rs587784272
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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.644_651del (p.Thr215fs)
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rs587784274
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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.657G>A (p.Trp219Ter)
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rs587784276
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NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs)
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rs587784277
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NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter)
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rs587784278
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NM_000430.4(PAFAH1B1):c.667dup (p.Thr223fs)
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rs797045864
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NM_000430.4(PAFAH1B1):c.671G>A (p.Gly224Asp)
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rs587784281
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NM_000430.4(PAFAH1B1):c.675C>G (p.Tyr225Ter)
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rs587784282
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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.716dup (p.Met239fs)
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rs587784284
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NM_000430.4(PAFAH1B1):c.71_72dup (p.Glu25fs)
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rs797045866
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NM_000430.4(PAFAH1B1):c.728_732dup (p.Asp245fs)
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rs797045867
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NM_000430.4(PAFAH1B1):c.72T>G (p.Tyr24Ter)
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rs587784285
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NM_000430.4(PAFAH1B1):c.730C>T (p.Gln244Ter)
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rs587784286
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NM_000430.4(PAFAH1B1):c.770_772delinsTGACCCA (p.Thr257fs)
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rs797045868
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NM_000430.4(PAFAH1B1):c.773_774del (p.Val258fs)
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rs797045869
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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.829dup (p.His277fs)
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rs797045870
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NM_000430.4(PAFAH1B1):c.830A>C (p.His277Pro)
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rs121434490
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NM_000430.4(PAFAH1B1):c.841T>C (p.Cys281Arg)
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rs587784288
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NM_000430.4(PAFAH1B1):c.84T>G (p.Tyr28Ter)
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rs369259961
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NM_000430.4(PAFAH1B1):c.851G>A (p.Trp284Ter)
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rs587784289
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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.910del (p.Ser304fs)
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rs587784292
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NM_000430.4(PAFAH1B1):c.911del (p.Ser304fs)
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rs797045871
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NM_000430.4(PAFAH1B1):c.92T>C (p.Phe31Ser)
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rs121434486
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NM_000430.4(PAFAH1B1):c.933dup (p.Leu312fs)
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rs797045872
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NM_000430.4(PAFAH1B1):c.949G>C (p.Asp317His)
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rs121434485
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NM_000430.4(PAFAH1B1):c.991_1002+10del
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rs1567561137
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