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. 2018 Jul 16;2(2):90–95. doi: 10.1002/ped4.12035

Table 3.

Two genetic variants of POR in the proband

Gene Transcript cDNA Protein Heterozygosity Co‐segregation gnomAD East Asian 1000 Genomes dbSNP number
POR NM_000941.2 c.667C>T p.R223* Heterozygous Proband and his father 0 ‐ rs782677940
POR NM_000941.2 c.1370G>A p.R457H Heterozygous Proband and his mother 0.0004688 0.0002 rs28931608