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. Author manuscript; available in PMC: 2021 Feb 22.
Published in final edited form as: Clin Genet. 2020 Aug 26;99(1):111–118. doi: 10.1111/cge.13829

TABLE 2.

Reported mutations in DNAJC5 and associated disease course

Mutant gene Genomic location Reported mutations Aminoacid change Age of onset Age of death Average time from diagnosis to death
DNAJC5, NCBI ID 80331 chr20:62,526,455–62,567, 384(GRCh37/hg19) c.346_348delCTC p.Leu116del 22–39 39–81 15.43
c.344T>G p.Leu115Arg 25–46 43–59 12.13
c.370_399dup p.Cys124CysLeuCysCysCys PheAsnCysCysCysdup 31–42 54 14