NM_000116.5(TAFAZZIN):c.109+5G>A
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rs2148185111
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NM_000116.5(TAFAZZIN):c.109+5G>C
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rs2148185111
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NM_000116.5(TAFAZZIN):c.110-2A>G
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rs1603376833
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NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)
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NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro)
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NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)
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rs104894941
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NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn)
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NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)
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NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)
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NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro)
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NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)
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NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
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NM_000116.5(TAFAZZIN):c.238+2T>G
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NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)
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rs1557191170
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NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro)
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NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)
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NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)
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rs104894942
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NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)
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rs1060500044
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NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)
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rs1060500044
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NM_000116.5(TAFAZZIN):c.284+5G>A
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NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)
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NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)
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NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val)
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NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val)
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NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)
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rs397515739
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NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)
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NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
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rs727504327
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NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu)
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NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)
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rs104894937
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NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
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NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)
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NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)
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rs1603377945
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NM_000116.5(TAFAZZIN):c.461-2A>G
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rs876661038
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NM_000116.5(TAFAZZIN):c.481G>A (p.Gly161Arg)
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NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
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NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
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NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)
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NM_000116.5(TAFAZZIN):c.533T>C (p.Phe178Ser)
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NM_000116.5(TAFAZZIN):c.541+1G>T
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NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)
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NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
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NM_000116.5(TAFAZZIN):c.583+5G>A
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NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
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rs132630277
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NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
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rs397515746
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NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)
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NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn)
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NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)
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NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
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rs1085307797
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NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs)
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rs1569552936
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NM_000116.5(TAFAZZIN):c.699+1G>T
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NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
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NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
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rs387907218
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NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)
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NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)
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NM_000116.5(TAFAZZIN):c.777+1G>A
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rs2068606932
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NM_000116.5(TAFAZZIN):c.778-2A>G
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rs876661112
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NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
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rs397515750
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NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
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