Table 1.

Distribution of All ATP7A Variants in gnomAD (v2.1.1).

ATP7A Variants	Number	%
Missense Variant	480	43.4%
Intron Variant	398	36.0%
Synonymous Variant	175	15.8%
Splice Region Variant	38	3.4%
3 Prime UTR Variant	7	0.6%
Frameshift Variant	2	0.2%
Splice Acceptor Variant	2	0.2%
5 Prime UTR Variant	1	0.1%
Splice Donor Variant	1	0.1%
Stop Gained	1	0.1%
In-frame Deletion	1	0.1%
Total	1106	100.0%

Source: gnomAD.