Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.

"data availability statement variants of uncertain significance information were submitted to the clinvar database ( https://www ncbi nlm nih gov/clinvar/ ) with accession numbers from scv002106369 to scv002106379. distribution of sequencing quality error rate distribution a/t/g/c distribution the composition of raw data and data quality summary were mentioned in the supplementary data (data s1 )."

"CONFLICTS OF INTEREST The authors declare no conflicts of interest."

"This study was supported by the National Institute for Health Research (RP‐2016‐07‐011 research professorship awarded to Diana Baralle). The authors would like to thank all the patients recruited for this study and the CRN Musketeers' Memorandum. The authors acknowledge the IRIDIS 4 High Capacity Performance Computer and the supporting team at the University of Southampton. They would also like to thank the technical teams of Duthie and IDS buildings, University of Southampton, for their support in day‐to‐day lab work."