Table 1.

The evaluation of two missense variants in the study

	CADD score	PROVEAN	SIFT	PolyPhen2	MutationTaster	Human Splicing Finder	GERP ++	phyloP	HGMD	ClinVar	gnomAD	dbSNP	HGVD
c.1218G > A	24.9	− 1.33	Deleterious	Benign	Disease causing	Potential alteration of splicing	4.49	3.984	–	–	–	–	–
c.1631A > G	24.4	− 1.28	Deleterious	Possibly damaging	Disease causing	Probably no impact on splicing	5.31	5.589	–	–	0.000836%	rs762215370	0.12%

CADD combined annotation dependent depletion, GERP genomic evolutionary rate profiling, gnomAD genome aggregation database, HGMD the human gene mutation database, HGVD human genetic variation database, PROVEAN protein variation effect analyzer, SIFT sorting intolerant from tolerant