Albertine Donker

Chapter 4 182 Supplemental Table 6. Characteristics of IRIDA patients Table 6 A. Genetics and ethnicity in 14 homozygous or compound heterozygous patients ID Sex Origin TMPRSS6 defect p.Ala 736Val a Allele 1; Allele 2 1 F MA c.del of 118 kb in 22q12.3 b c.del of 118 kb in 22q12.3 p.nonsense;p.nonsense 0 2 F NL c.del promotor, exon 1-3;c.497delT p.nonsense;p.Leu166Argfs*37 0 3 F NL c.497delT; c.497delT p.Leu166Argfs*37;p.Leu166Argfs*37 2 4 M NL c.497delT; c.497delT p.Leu166Argfs*37;p.Leu166Argfs*37 0 5 F TR c.1904_1905dup; c.1904_1905dup p.Lys636Alafs*17;p.Lys636Alafs*17 0 6 F TR c.1904_1905dup; c.1904_1905dup p.Lys636Alafs*17;p.Lys636Alafs*17 2 7 M NL c.497delT; c.1832G>A p.Leu166Argfs*37; p.Trp611X 0 8 F NL c.497delT; c.1228T>C p. Leu166Argfs*37 p.Cys410Arg 2 9 F NL c.497delT; c.1324G>A p.Leu166Argfs*37; p.Gly442Arg 1 c 10 M NL c.497delT; c.1324G>A p. Leu166Argfs*37; p.Gly442Arg 0 11 F NL c.497delT; c.2383G>A p. Leu166Argfs*37; p.Val795Ile 1 d 12 M TR c.1904_1905dup ;c.1229G>C p.Lys636Alafs*17; p.Cys410Ser 0 13 M NL c.521T>C c.1228T>C p.Leu174Pro; p.Cys410Arg 0 14 F NL c.2383G>A; c.2105G>T p.Val795Ile; p.Cys702Phe 1 e