Table 2.

Types of Known Variants in ATP7B and its Frequency ¹.

Type of Variant	No. Mutations	Frequency (%)
Regulatory sequences	12	1.28
Splicing site	77	8.21
Missense and nonsense mutations	572	60.98
Small deletions	158	16.84
Small insertions	80	8.53
Indels	12	1.28
Gross deletions	26	2.77
Deep intronic	1	0.11

¹ Data obtained from the HGMD Professional version 2021.1.