Fig. 2.

Germline coding variants of CDKN2A in children with ALL. (a) Flowchart of CDKN2A genotyping. CDKN2A Exon variants were identified by Sanger sequencing in 308 ALL cases enrolled onto CCCG-ALL-2015 in Guangzhou Women and Children’s Medical Center (GWCMC). (b) and (c), Exonic variants are classified as silent, missense or nonsense, and are mapped to two distinct open reading frames at this locus: p16^INK4A (b) and p14^ARF (c) for ALL cases from GWCMC (upper) and cases previously reported (lower) [6]. Functional domains are indicated by color based on Pfam annotation. Each circle represents a unique individual carrying the indicated variant (heterozygous or homozygous), except for variants recurring in more than two individuals for which the number in the circle indicates the exact frequency of the observed variant.