From: Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease
Patients | Variants | Exon | Effect | Allele frequencies (%) |
---|---|---|---|---|
Patient 1 | c.3077 T > A | 14 | p.Phe1026Tyr | 0 |
c.2866-2A > G | Splicing | 0.012190 | ||
Patient 2 | c.750_751insG | 2 | p.His251Alafs*19 | 0.004730 |
c.314C > A | 2 | p.Ser105* | 0.008128 | |
Patient 3 | c.2604delC | 11 | p.Pro868Profs*5 | 0 |
c.314C > A | 2 | p.Ser105* | 0.008128 |