Table 3

- Variants detected in homozygous state in fifteen patients with Wilson disease.

Patients’ IDs	No. of alleles	Nucleotide change	Codon change	Variant effect	Variant classification	Presentation	MLS score after NGS
14, 23	4	c.956delC	p.Pro319HisfsTer44	Frameshift	Pathogenic	Mixed, Hepatic	10, 11
26, 50	4	c.3305T>C	p.Ile1102Thr	Missense	Pathogenic	Hepatic	8, 9
13	3	c.3741-3742dupCA^*	p.Lys1248ThrfsTer83	Frameshift	Pathogenic	Hepatic	10
51	3	c.3694A>C^{^&}	p.Thr1232Pro	Missense	Likely pathogenic	Hepatic	8
1	2	c.4309A>T	p.Lys1437Ter	Stop-gain	pathogenic	Mixed	7
4^#	2	c.2575+1G>C	-	Splice-donor	pathogenic	Hepatic	9
30^#	2	c.4021G>A	p.Gly1341Ser	Missense	Likely pathogenic	Hepatic	10
33	2	c.2336G>A	p.Trp779Ter	Stop-gain	pathogenic	Mixed	8
43^#	2	c.2866-2A>C	-	Splice acceptor	pathogenic	Hepatic	7
45	2	c.2905C>T	p.Arg969Trp	Missense	Likely pathogenic	Hepatic	8
48	2	c.3061-12T>A	-	Intronic variant	pathogenic	Hepatic	6
53	2	c.2987T>C	p.Met996Thr	Missense	pathogenic	Hepatic	7
54	2	c.2304dupC	p.Met769HisfsTer26	Frameshift	pathogenic	Mixed	10
Total: 15	32	No. of variants = 13

MLS: modified Leipzig score

↵# Those patients have one additional variant in heterozygous state, namely: (c.2663C>T, p.Thr888Ile), (c.2924C>A, p.Ser975Tyr), and (c.1934T>G, p.Met645Arg).
↵* This variant is also detected in patient no. 5 but in heterozygous state, so total no. of alleles carrying this variant were 3.
↵& : This variant is also detected in patient no. 38 but in heterozygous state, so total no of alleles carrying this variant were 3.