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Table 2 Detected TYR, SLC45A2, and OCA2 mutations and polymorphisms

From: Delineating the genetic heterogeneity of OCA in Hungarian patients

Patient Mutation 1 Mutation 2 Polymorphisms Molecular diagnosis
1 TYR gene: c.74dupT p.Ser26Leufs*2 (hetero) TYR gene: c.346C>T p.Arg116* (hetero) OCA1
2 TYR gene: c.1037−7T>A (homo) SLC45A2 gene: c.1122G>C p.Leu374Phe (homo)
Global MAF: 0.2750
Caucasian MAF: 0.0616
OCA2 gene: c.913C>T p.Arg305Trp (hetero)
Global MAF: 0.0790
Caucasian MAF: 0.0650
OCA1
3 TYR gene: c.1037−7T>A (homo) SLC45A2 gene: c.1122G>C p.Leu374Phe (homo)
Global MAF: 0.2750
Caucasian MAF: 0.0616
OCA1
4 TYR gene: c.1037−7T>A (homo) SLC45A2 gene: c.1122G>C p.Leu374Phe (homo)
Global MAF: 0.2750
Caucasian MAF: 0.0616
OCA1
5 TYR gene: c.1204C>T p.Arg402* (hetero) TYR gene: c.575C>A p.Ser192Tyr (homo)
Global MAF: 0.1234
Caucasian MAF: 0.3718
SLC45A2 gene: c.1122G>C p.Leu374Phe (homo)
Global MAF: 0.2750
Caucasian MAF: 0.0616
OCA1
6 TYR gene: c.650G>A p.Arg217Gln (hetero) TYR gene: c.1205G>A p.Arg402Gln (hetero)
Global MAF: 0.0813
Caucasian MAF: 0.2525
SLC45A2 gene: c.1122G>C p.Leu374Phe (homo)
Global MAF: 0.2750
Caucasian MAF: 0.0616
OCA1
7 TYR gene: c.650G>A p.Arg217Gln (hetero) TYR gene: c.1205G>A p.Arg402Gln (hetero)
Global MAF: 0.0813
Caucasian MAF: 0.2525
SLC45A2 gene: c.1122G>C p.Leu374Phe (homo)
Global MAF: 0.2750
Caucasian MAF: 0.0616
OCA1
8 TYR gene: c.650G>A p.Arg217Gln (hetero) OCA1
9 SLC45A2 gene: c.1226G>A p.Gly409Asp (hetero) SLC45A2 gene: c.1459C>T p.Gln487* (hetero) TYR gene: c.575C>A p.Ser192Tyr (homo)
Global MAF: 0.1234
Caucasian MAF: 0.3718
TYR gene: c.1205G>A p.Arg402Gln (hetero)
Global MAF: 0.0813
Caucasian MAF: 0.2525
OCA4
10 SLC45A2 gene: c.1226G>A p.Gly409Asp (hetero) SLC45A2 gene: c.1459C>T p.Gln487* (hetero) TYR gene: c.575C>A p.Ser192Tyr (hetero)
Global MAF: 0.1234
Caucasian MAF: 0.3718
OCA4
11 TYR gene: c.1366+4A>G (hetero) SLC45A2 gene: c.1099G>A p.Val367Ile (hetero) TYR gene: c.575C>A p.Ser192Tyr (hetero)
Global MAF: 0.1234
Caucasian MAF: 0.3718
SLC45A2 gene: c.1122G>C p.Leu374Phe (homo)
Global MAF: 0.2750
Caucasian MAF: 0.0616
OCA1/
OCA4
12 TYR gene: c.575C>A p.Ser192Tyr (homo)
Global MAF: 0.1234
Caucasian MAF: 0.3718
TYR gene: c.1205G>A p.Arg402Gln (hetero)
Global MAF: 0.0813
Caucasian MAF: 0.2525
SLC45A2 gene: c.1122G>C p.Leu374Phe (homo)
Global MAF: 0.2750
Caucasian MAF: 0.0616
Unknown
13 SLC45A2 gene: c.1122G>C p.Leu374Phe (homo)
Global MAF: 0.2750
Caucasian MAF: 0.0616
Unknown
  1. MAF minor allele frequency