The genomic map of the RPS19 noncoding variant and in silico prediction on splicing impact. (A) The pedigree for the DBAS1/RPS19 family with the eADA level superimposed for the solely affected proband. (B) The DBAS1 proband at the age of 1 year. (C) The genomic position depicting the deep intronic nature of the RPS19 c.172+350C>T variant by IGV. (D) The WGS depth and variant AF in heterozygous subjects. (E) In silico splicing prediction algorithms (Alamut and SpliceAI) independently predicted a profound donor gain (red framed) as a consequence of the deep intronic variant. WT, wild-type.