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c.652-(1_2)delAG c.657_663delCTTGGGC p.Asp230Tyr p.Leu234Pro p.Leu244Arg p.Cys247X c.771+3A>G

HMBS Gene. c.652-(1_2)delAG c.657_663delCTTGGGC p.Asp230Tyr p.Leu234Pro p.Leu244Arg p.Cys247X c.771+3A>G. c.34-21A>G p.Glu12X c.81delG,80-82insTC p.Gln29X c.87+5G>A. p.Leu276Arg p.Gly280Glu c.842_844delGAG c.891_892insT. p.Gly179X c.535delG p.Arg195His. p.Glu117X c.397delA.

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c.652-(1_2)delAG c.657_663delCTTGGGC p.Asp230Tyr p.Leu234Pro p.Leu244Arg p.Cys247X c.771+3A>G

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  1. HMBS Gene c.652-(1_2)delAG c.657_663delCTTGGGC p.Asp230Tyr p.Leu234Pro p.Leu244Arg p.Cys247X c.771+3A>G c.34-21A>G p.Glu12X c.81delG,80-82insTC p.Gln29X c.87+5G>A p.Leu276Arg p.Gly280Glu c.842_844delGAG c.891_892insT p.Gly179X c.535delG p.Arg195His p.Glu117X c.397delA p.Ala11Ala 4 1 1 3 3 4 5 5 6 6 7 7 8 8 9 9 10 11 11 12 13 14 15 15 14 10 p.Leu30Ile c.88-(6-16)del11bp c.88-20A>C p.Ser147Pro c.476delC c.772-3C>G c.892_893delCA p.Glu310X c.963_964insT c.613-3C>A p.Glu209Asp,p.Gly216Ala,p.Gln217Lys PPOX Gene p.Leu178Arg c.599-600insG c.616+5G>T c.813-814insATCT c.868+3A>C c.996-997insA p.Gly10X p.Cys26X c.1009-1023del15ins9 c.1093delG,c.1092-1093insCACTC 11 10 12 2 3 4 5 6 7 8 9 1 13 p.Arg47X c.339-1G>A c.461-471,c.471+12del23bp c.472-(24-16)delCTTAGTCCT c.617-3C>A c.996-997insA Gln428X CPOX Gene c.119delA p.Leu88Gln p.Trp181Leu c.1173-14T>G p.Tyr392Cys p.Leu421X,c.1266delT c.1053-1054insT p.Pro367Ala p.Thr286Lys p.Leu311Pro 1 2 3 4 5 6 7 c.1284delG Supplemental Figure 1: Previously unreported mutations in the HMBS, CPOX and PPOX genes

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