NM_000430.4(PAFAH1B1):c.818G>A (p.Arg273Gln)
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rs794729199
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0.00001
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NC_000017.10:g.(?_2541583)_(2541634_?)dup
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NC_000017.10:g.(?_2569290)_(2576071_?)dup
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NC_000017.10:g.(?_2573437)_(2585096_?)del
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NC_000017.11:g.(?_2638238)_(2638345_?)del
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NC_000017.11:g.(?_2680139)_(2681852_?)del
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NM_000430.3:c.(32+1_33-1)_(399+1_400-1)del
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NM_000430.3:c.(568+1_569-1)_(671+1_672-1)del
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NM_000430.3:c.(?_-30)_(*220_?)del
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NM_000430.4(PAFAH1B1):c.1009C>G (p.His337Asp)
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rs587784236
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NM_000430.4(PAFAH1B1):c.1044dup (p.Gly349fs)
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rs2069358559
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NM_000430.4(PAFAH1B1):c.1072G>A (p.Asp358Asn)
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rs2151673924
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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.1111C>T (p.Arg371Ter)
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rs587784241
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NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg)
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rs2069361452
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NM_000430.4(PAFAH1B1):c.117+5G>C
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rs1555526248
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NM_000430.4(PAFAH1B1):c.117_117+2del
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rs1064796229
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NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile)
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rs1131691295
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NM_000430.4(PAFAH1B1):c.1193G>A (p.Gly398Asp)
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rs587784247
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NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys)
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rs587784250
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NM_000430.4(PAFAH1B1):c.144dup (p.Gly49fs)
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NM_000430.4(PAFAH1B1):c.154dup (p.Glu52fs)
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rs2069103320
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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.193-1G>A
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NM_000430.4(PAFAH1B1):c.19C>T (p.Gln7Ter)
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rs2068649745
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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.282G>A (p.Trp94Ter)
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rs2151660977
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NM_000430.4(PAFAH1B1):c.287C>G (p.Pro96Arg)
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rs2151660984
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NM_000430.4(PAFAH1B1):c.33-1G>C
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rs1057521243
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NM_000430.4(PAFAH1B1):c.400-1G>A
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rs2151663926
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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.485G>A (p.Gly162Asp)
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NM_000430.4(PAFAH1B1):c.503G>A (p.Cys168Tyr)
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rs200390886
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NM_000430.4(PAFAH1B1):c.521_523dup (p.Ile174_Lys175insIle)
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rs2151664099
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NM_000430.4(PAFAH1B1):c.568+2T>C
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rs2151664151
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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.569-3del
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rs797045863
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NM_000430.4(PAFAH1B1):c.569G>T (p.Gly190Val)
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NM_000430.4(PAFAH1B1):c.661G>A (p.Val221Met)
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rs1262666760
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NM_000430.4(PAFAH1B1):c.671+4A>G
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rs587784279
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NM_000430.4(PAFAH1B1):c.671+5G>A
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rs587784280
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NM_000430.4(PAFAH1B1):c.680_681del (p.Val227fs)
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rs2069226261
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NM_000430.4(PAFAH1B1):c.681dup (p.Lys228fs)
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rs2151667785
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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.707G>A (p.Trp236Ter)
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NM_000430.4(PAFAH1B1):c.721del (p.Arg241fs)
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rs2069227227
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NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro)
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rs121434488
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NM_000430.4(PAFAH1B1):c.751A>C (p.Ser251Arg)
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rs587784287
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NM_000430.4(PAFAH1B1):c.899A>G (p.Glu300Gly)
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rs1555527149
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NM_000430.4(PAFAH1B1):c.900G>A (p.Glu300=)
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rs587784291
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NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp)
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rs587784291
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NM_000430.4(PAFAH1B1):c.901-1G>A
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NM_000430.4(PAFAH1B1):c.938C>T (p.Ser313Phe)
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rs587784293
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NM_000430.4(PAFAH1B1):c.965T>G (p.Met322Arg)
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rs587784294
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NM_000430.4(PAFAH1B1):c.967T>A (p.Trp323Arg)
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rs2069271269
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