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Table 3 Comparison of OCA patients bearing the p.R305W variant

From: Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W

IDs Gender Ethnic background TYR OCA2
Allele 1 Allele 2 Allele 1 Allele2
NE27 Male American Indian or Alaska Native, Black or African American, White    c.1103C>T (p.Ala368Val) c.913C>T (p.Arg305Trp) VUS
2.7 kb Exon7 deletion
NE12 Female White    c.1465A>G (p.Asn489Asp) c.2310T>G (p.Tyr770*)
Phase unknown: c.913C>T (p.Arg305Trp) VUS
NE21  Male White c.1118C>A
(p.Thr373Lys)
  c.913C>T p.Arg305Trp) VUS  
NE22 Female White c.242C>T
(p.Pro81Leu)
  c.913C>T (p.Arg305Trp) VUS  
NE30 Male Asian c.229_230insAGG
(p.Arg77delinsGlnGly)
  c.913C>T (p.Arg305Trp) VUS  
  1. Asterisk represents termination codon