Table 2  PNKP Mutations that Caused AOA in Affected Members of the Eight Portuguese Families in Whom Mutations Were Found
Family   cDNA (RefSeq NM_007254.3)   Protein (RefSeq NP_009185.2)
1  c.[1123G>T];[1253_1269dupGGGTCGCCATCGACAAC]  p.[(Gly375Trp)];[(Thr424Glyfs∗49)]
2  c.[1123G>T];[1123G>T]  p.[(Gly375Trp)];[(Gly375Trp)]
3  c.[1221_1223del];[1549_1550insTGTACTGC]  p.[(Thr408del)];[(Gln517Leufs∗24)]
4  c.[1221_1223del];[1315_1329delinsGGGT]  p.[(Thr408del)];[(Arg439Glyfs∗51)]a
5  c.[1123G>T];[1123G>T]  p.[(Gly375Trp)];[(Gly375Trp)]
6  c.[1123G>T(;)1322_1323insAGCCG]  p.[(Gly375Trp(;)Gly442Alafs∗27)]
7  c.[1123G>T];[(1123G>T)]  p.[(Gly375Trp)];[(Gly375Trp)]
8  c.[1123G>T];[1123G>T]  p.[(Gly375Trp)];[(Gly375Trp)]
a  One of the allelic mutations in F4 is formed by a complex allele that was initially not properly identified. Figure S3 shows the detailed view of the alignment at that position, clearly displaying the complex allele.