Table 1 Details of variants found in MUTYH gene
From: Intussusception reveals MUTYH-associated polyposis syndrome and colorectal cancer: a case report
Gene | Variant | Exon | Population frequencie | Zigosity | Classification |
|---|---|---|---|---|---|
MUTYH (NM_001128425) | c.536A > G p.(Tyr179Cys) | 7 | 0,2153% | Heterozygous | Pathogenic variant |
MUTYH (NM_001128425) | c.1147delC p.(Ala385Profs*23) | 12 | 0,00752% | Heterozygous | Pathogenic variant |