Albertine Donker

Chapter 4 176 Supplemental Table 4. Continued ID Family relation Sex (M/F) Age Diagnosis IRIDA (years) TMPRSS6 defect Allele 1; Allele 2 5 proband F 5 c.1904_1905dup; c.1904_1905dup p.Lys636Alafs*17; p.Lys636Alafs*17 mother F 29 c.1904_1905dup; Wt p.Lys636Alafs*17;Wt 11 proband F 2 c.497delT; c.2383G>A p.Leu166Argfs*37; p.Val795Ile mother F 32 c.497delT; Wt p.Leu166Argfs*37 father M 35 c.2383G>A; Wt p.Val795Ile; Wt sister F 6 c.2383G>A; Wt p.Val795Ile; Wt 14 proband F 44 c.2383G>A; c.2105G>T p.Val795Ile; p.Cys702Phe father M 75 c.2383G>A; Wt p.Val795Ile; Wt daughter F 14 Wt; c.2105G>T Wt; p.Cys702Phe daughter F 10 c.2383G>A; Wt p.Val795Ile; Wt brother M 39 Wt; Wt 17 proband F 31 c.497delT; Wt p.Leu166Argfs*37; Wt mother F 58 c.497delT; Wt p.Leu166Argfs*37; Wt 19 proband F 41 c.863+1G>T; Wt splicing; Wt mother F 82 c.863+1G>T; Wt splicing; Wt sister F 54 c.863+1G>T; Wt splicing; Wt brother M 49 Wt; Wt