Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

"table 2 information of the detected variants of the patients with genetic findings patient id es family inheritance/zygosity gene name hgvs transcript coding change hgvs predicted protein change allele origion variant classification a novel or reported p1 proband het cftr nm_000492 3:c 3196c>t and c 595c>t p(arg1066cys) and p(his199tyr) unknown lp hgmd and clinvar recorded p2 proband comphet mars1 nm_004990 3:c 1547a>g and c 1793g>a p(tyr516cys) and p(arg598his) unknown lp novel p(arg598cys) reported in pmid:32833345 p2 proband comphet?; data availability statement the novel variants found in this study have been submitted to clinvar (submission id: sub9827004 clinvar accession: from scv001737514 to scv001737542)."

"CONFLICT OF INTERESTS The authors declare that there are no conflict of interests."

"This study was supported by the Key Laboratory of Emergency Medicine for Children (grant no.: 2018TP1028), and the Ministry of Science and Technology in China (grant no.:2012BAI04B02). The authors would like to thank the Pediatrics Research Institute of Hunan Province for its contribution of valuable assistance with the laboratory and field tests. They also would like to express our sincere gratitude to all those who helped during the writing of this thesis."