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 |