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. 2022 Feb;8(2):a006130. doi: 10.1101/mcs.a006130

Table 2.

Genomic findings

Gene Genomic location HGVS cDNA HGVS protein Zygosity Parent of origin Variant interpretation
CKAP2L GRCh37: Chr 2:113513775_113513782
GRCh38: Chr 2:112756198-112756205		 NM_152515.5
c.1169_1173del		 p.Ile390LysfsTer4 Heterozygous Paternal Pathogenic
CKAP2L GRCh37: Chr 2:113496572
GRCh38: Chr 2:112738995		 NM_152515.5
c.2066G > A		 p.Arg689His Heterozygous Maternal Variant of uncertain significance