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Table 3 Four rare homozygous variants on chromosome 4

From: Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations

Gene Symbol

Position

Variation Type

Transcript Variant

Protein Variant

SIFT Function Prediction

PolyPhen-2 Function Prediction

Classification

KIAA1211

57180473

Deletion

c.805delC

p.L269fsX13

  

Uncertain Significance

MMRN1

90855967

SNV

c.1136A > T

p.K379I

Damaging

Possibly Damaging

Uncertain Significance

SLC25A31

128665845

SNV

c.251G > A

p.R84H

Damaging

Possibly Damaging

Uncertain Significance

NPY5R

164272419

Deletion

c.997delG

p.V333fsX7

  

Uncertain Significance