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Table 1 GnomAD frequencies for the mutations

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

  1. Bold letters are the novel mutations