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Table 2 The sanger suquencing of germline variants in proband and family members

From: Whole-exome sequencing reveals the etiology of the rare primary hepatic mucoepidermoid carcinoma

Gene Locus HGVS nomenclature Alt Rff Proband 64y Sibling 70y Sibling 61y Son 39y Daugther 41y
FANCI 15q26.1 exon4:c.C257T:p.A86V CT C heterozygous Non Non Non Non
exon22:c.G2225C:p.C742S CG C heterozygous Non Non Non Non
FAN1 15q13.2 exon2:c.G698A:p.G233E GA G heterozygous heterozygous heterozygous Non Non
FANCJ/BRIP1 17q23.2 exon19:c.T2755C:p.S919P TC T heterozygous homozygous homozygous homozygous homozygous
FANCA 16q24.3 exon16:c.G1501A:p.G501S CT C heterozygous homozygous homozygous homozygous homozygous
exon9:c.A796G:p.T266A TC T heterozygous homozygous homozygous homozygous homozygous
exon26:c.G2426A:p.G809D TT C homozygous homozygous homozygous homozygous homozygous
FANCW/RFWD3 16q23.1 exon10:c.A1690G:p.I564V CC T homozygous homozygous homozygous homozygous homozygous
exon2:c.C269A:p.T90N TT G homozygous homozygous homozygous homozygous homozygous
FANCD1/BRCA2 13q13.1 exon14:c.T7397C:p.V2466A GG A homozygous homozygous homozygous homozygous homozygous
C17orf70 17q25.3 exon8:c.A2449G:p.T817A CC T homozygous homozygous homozygous homozygous homozygous