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Table 2 The genotypes of TYR and/or OCA2 genes in OCA patients in reflex testing at NEI

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

Patient IDa TYR OCA2
Allele 1 Allele 2 Allele 1 Allele 2
NE1 c.1118C>A (p.Thr373Lys)    
NE2 Negative c.1441G>A (p.Ala481Thr) c.2228C>T (p.Pro743Leu)
NE3 Negative c.2228C>T (p.Pro743Leu)  
NE4 c.346C>T (p.Arg116a) c.896G>A (p.Arg299His) Not tested
NE5b Negative Negative
NE6 c.816G>C (p.Trp272Cys) c.1118C>A (p.Thr373Lys) Not tested
NE7b Negative Negative
NE8 Negative c.1327G>A (p.Val443Ile) c.1842+1G>T (IVS17+1G>T)
NE9 c.1217T>C (p.Pro406Leu) c.1291C>A (p.Pro431Thr) Not tested
NE10 c.1217T>C (p.Pro406Leu) c.1291C>A (p.Pro431Thr) Not tested
NE11 c.238T>C (p.Trp80Arg) c.1037-7T>A (IVS2-7T>A) Not tested
NE12 Negative c.1465A>G (p.Asn489Asp) c.2310T>G (p.Tyr770a)
NE13 Negative c.1103C>T (p.Ala368Val)  
NE14 c.929dupC (p.Arg311Lysfsa7) c.929dupC (p.Arg311Lysfsa7) Not tested
NE15   c.157delA (p.Arg53Glyfsa49)  
NE16 c.1118C>A (p.Thr373Lys)   Negative
NE17 Negative c.1256G>A (p.Arg419Gln) VUS  
NE18 Negative c.632C>T (p.Pro211Leu) c.1240-1G>C (IVS12-1G>C)
NE19 Negative c.1256G>A (p.Arg419Gln) VUS  
NE20 Negative c.1372G>A (p.Val443Ile)  
NE21 c.1118C>A (p.Thr373Lys)   c.913C>T (p.Arg305Trp) VUS  
NE22 c.242C>T (p.Pro81Leu)   c.913C>T (p.Arg305Trp) VUS  
NE23 Negative   
NE24 c.1037-1G>A (IVS2-1G>A) c.1118C>A (p.Thr373Lys) Not tested
NE25 c.61C>T (p.Pro21Ser) c.1037-7T>A (IVS2-7T>A) Not tested
NE26 c.1037-7T>A (IVS2-7T>A) c.347G>T (p.Arg116Leu) Not tested
NE27 Negative c.1103C>T (p.Ala368Val) c.913C>T (p.R305W)
NE28 Negative   
NE29 c.1118C>A (p.Thr373Lys)   Not tested
NE30 c.229_230insAGG (p.Arg77delinsGlnGly) c.913C>T (p.Arg305Trp) VUS  
NE31 c.1366+4A>G (IVS4+4A>G)   Not tested
NE32 c.346C>T (p.Arg116a) c.929dupC (p.Arg311Lysfsa7) Not tested
NE33 Negative c.1256G>A (p.Arg419Gln) VUS  
NE34 c.242C>T (p.Pro81Leu)   Not tested
NE35 c.1037-7T>A (IVS2-7T>A)   Not tested
NE36 Negative c.1465A>G (p.Asn489Asp) c.2228C>T (p.Pro743Leu)
NE37 Negative c.1327G>A (p.Val443Ile) c.1327G>A (p.Val443Ile)
NE38 Negative   
NE39 c.242C>T (p.Pro81Leu) c.1217C>T (p.Pro406Leu)   
  1. aNE13-NE25, NE27-NE29 have been submitte to BRICS for research (Additional file 2: Table S2)
  2. bThese two samples were found positive for pathogenic alleles in other OCA related genes later