NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
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rs41298442
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0.00039
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NM_000161.3(GCH1):c.626+2dup
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rs1474519447
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0.00001
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NC_000014.8:g.(?_55310735)_(55313868_?)del
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NC_000014.8:g.(?_55310735)_(55326474_?)del
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NC_000014.8:g.(?_55312466)_(55313868_?)del
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NC_000014.8:g.(?_55313807)_(55313858_?)del
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NC_000014.8:g.(?_55332039)_(55369387_?)del
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NC_000014.8:g.(?_55369019)_(55369381_?)del
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NC_000014.9:g.(?_54859671)_(54865446_?)del
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NC_000014.9:g.(?_54865307)_(54865456_?)del
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NC_000014.9:g.(?_54865317)_(54865446_?)del
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NC_000014.9:g.(?_54902311)_(54902702_?)del
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NM_000161.3(GCH1):c.127_130dup (p.Ala44fs)
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rs1595031524
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NM_000161.3(GCH1):c.142C>T (p.Gln48Ter)
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rs104894444
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NM_000161.3(GCH1):c.158G>A (p.Trp53Ter)
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rs2140127425
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NM_000161.3(GCH1):c.185del (p.Glu62fs)
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NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs)
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rs1555362845
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NM_000161.3(GCH1):c.212del (p.Leu71fs)
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rs2140127278
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NM_000161.3(GCH1):c.220_223del (p.Ala74fs)
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rs1566687321
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NM_000161.3(GCH1):c.233del (p.Ile78fs)
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NM_000161.3(GCH1):c.248dup (p.Glu84fs)
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rs1595031221
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NM_000161.3(GCH1):c.250G>T (p.Glu84Ter)
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rs755556239
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NM_000161.3(GCH1):c.278dup (p.Thr94fs)
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rs1555362835
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NM_000161.3(GCH1):c.293C>T (p.Ala98Val)
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rs2040580445
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NM_000161.3(GCH1):c.307C>T (p.Gln103Ter)
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NM_000161.3(GCH1):c.322G>A (p.Gly108Ser)
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rs2140127010
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NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)
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rs104894435
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NM_000161.3(GCH1):c.344-1G>A
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rs1555360050
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NM_000161.3(GCH1):c.344-1G>C
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rs1555360050
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NM_000161.3(GCH1):c.395_396del (p.Val132fs)
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rs2140074097
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NM_000161.3(GCH1):c.453+1G>A
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NM_000161.3(GCH1):c.453+1G>C
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rs2140073990
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NM_000161.3(GCH1):c.453+2T>G
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rs2140073988
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NM_000161.3(GCH1):c.473del (p.Pro158fs)
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rs2039866628
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NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAG
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rs1594982939
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NM_000161.3(GCH1):c.510-1G>A
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rs1555358604
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NM_000161.3(GCH1):c.532A>T (p.Arg178Ter)
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rs1594971274
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NM_000161.3(GCH1):c.532_537del (p.Arg178_Leu179del)
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rs2039654207
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NM_000161.3(GCH1):c.539A>G (p.Gln180Arg)
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rs1566660298
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NM_000161.3(GCH1):c.541+1G>C
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rs1555358599
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NM_000161.3(GCH1):c.541+1G>T
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rs1555358599
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NM_000161.3(GCH1):c.550C>T (p.Arg184Cys)
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rs2140041841
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NM_000161.3(GCH1):c.551G>A (p.Arg184His)
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rs104894445
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NM_000161.3(GCH1):c.578_583del (p.Ile193_Glu195delinsLys)
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rs2140041733
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NM_000161.3(GCH1):c.601G>C (p.Gly201Arg)
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NM_000161.3(GCH1):c.607G>A (p.Gly203Arg)
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rs988395114
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NM_000161.3(GCH1):c.614T>A (p.Val205Glu)
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rs1418922853
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NM_000161.3(GCH1):c.626+1G>A
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rs1555358507
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NM_000161.3(GCH1):c.626+1G>T
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rs1555358507
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NM_000161.3(GCH1):c.626+2T>C
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NM_000161.3(GCH1):c.631_632del (p.Met211fs)
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rs886039379
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NM_000161.3(GCH1):c.646C>T (p.Arg216Ter)
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rs41298440
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NM_000161.3(GCH1):c.751T>C (p.Ter251Arg)
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