Variants in genes associated with albinism were detected in all patients included in the study
Patient code	Gene	Transcript	Nucleotide change	Amino acid change	MAF	Inheritance	Rs code
TG18-30	HPS1	NM_001322482	c.612delC	p.M205Wfs*5	0,0001	Homozygous	rs281865082
TG18-31	OCA2	NM_001300984	c.2186T>C	p.L729P	N/A	Homozygous	Novel
TG18-46	OCA2	NM_001300984	c.2186T>C	p.L729P	N/A	Homozygous	Novel
TG19-01	SLC45A2	NM_001012509	c.400delC	p.(Pro134Glnfs*9)	N/A	Homozygous	Novel
TG19-01	SLC45A2	NM_001012509	c.482G>T	p.G161V	N/A	Homozygous	Novel
TG19-30	SLC45A2	NM_016180	c.386-1G>A	N/A	N/A	Homozygous	Novel
TG19-36	OCA2	NM_000275	c.2037G>C	p.(Gln319*)	0,0000915	Homozygous	rs121918169
TG19-46	OCA2	NM_000275	c.1648G>A	p.(Glu550Lys)	N/A	Homozygous	Novel
TG19-48	SLC45A2	NM_001012509	c.328G>C	p.G110R	N/A	Homozygous	Novel
TG19-54	SLC45A2	NM_016180	c.386-1G>A	Splice variant	N/A	Homozygous	Novel