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. 2019 Nov 18;2019:9765276. doi: 10.1155/2019/9765276

Table 2.

The variants detected in two families.

Gene Transcript Chromosome location (GRCh37/hg19) Nucleotide changes Amino acid changes
OTOF NM_194248 chr2:26688591 c.4748G>A p.R1583H
OTOF NM_194248 chr2:26700039 c.2523+1G>T Splicing
OTOF NM_194248 chr2:26684994 c.5248G>C p.D1750H
OTOF NM_194248 chr2:26686837 c.5098G>C p.E1700Q