Table 1.

Characteristics of the NGS and replication cohort.

Cohort		Group Size	Copper Score	Age	Non-ref. Allele Freq.1 ATP7A:980C>T	Non-Ref. Allele Freq. ATP7B:c.4373G>A
NGS	Females	65	3 (0–5)	5.6 (0.9–13.5)	0.24	0.35
	Males	30	1 (0–4)	5.3 (1.4–9.0)	0.33	0.32
	Total	95	2 (0–5)	5.3 (0.9–13.5)	0.29	0.34
Replication	Females	97	2 (0–5)	6.7 (0.9–12.7)	0.28	0.30
	Males	47	2 (0–4)	7.3 (1.5–12.5)	0.26	0.36
	Total	144	2 (0–5)	7.0 (0.9–12.7)	0.28	0.32

Characteristics of the NGS and replication cohort are presented for males and females separately and additionally for the complete group. Age at liver biopsy and the copper score are described with median and range. ¹ Non-reference allele frequency.