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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