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Table 1 Variants found in the patient’s and his children’s deoxyribonucleic acid

From: Genetic prescreening of a candidate for laser refractive surgery identifies risk for inadequate tissue response: a case report 

 

Chr

Position

Ref. allele

Allele 1

Allele 2

Gene

dbSNP

Protein/amino acid

PolyPhen2 prediction HumDiv

LRT prediction

PROVEAN prediction

Father

5

90079091

A

A

G

ADGRV1

rs182698253

p.H4461R

Probably damaging

Deleterious

Damaging

8

141771274

T

T

C

PTK2

N/A

p.Y526C

N/A

N/A

N/A

16

88504716

G

G

T

ZNF469

rs568704426

p.G3585V

Benign

N/A

Neutral

17

39674737

G

G

A

KRT15

rs201164162

p.R115C

Probably damaging

Deleterious

Damaging

Daughter

17

39674737

G

G

A

KRT15

rs201164162

p.R115C

Probably damaging

Deleterious

Damaging

Son

5

90079091

A

A

G

ADGRV1

rs182698253

p.H4461R

Probably damaging

Deleterious

Damaging

16

88504716

G

G

T

ZNF469

rs568704426

p.G3585V

Benign

N/A

Neutral

17

39674737

G

G

A

KRT15

rs201164162

p.R115C

Probably damaging

Deleterious

Damaging