Skip to main content

Table 2 Summary of novel non-synonymous coding homozygous variants in patient

From: Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

CHROM

POS

REF

ALT

Gene

Position

Variant type

Amino acid change

GERP

PhyloP

SIFT

Polyphen2

OMIM disorders

9

135176191

C

T

SETX

Splice

Splice

-

4.88

-

-

-

Ataxia-ocular apraxia-2, 606002 (3); Amyotrophic lateral sclerosis4, juvenile, 602433 (3)

X

128695181

G

A

OCRL

Exon_CDS

Missense

E284K

5.44

1.00

1.00

0.99

Lowe syndrome, 309000 (3); Dent disease 2, 300555 (3)

4

86863251

C

T

ARHGAP24

Exon_CDS

Missense

R47C

5.11

1.00

0.90

0.94

-

X

3021820

G

A

ARSF

Exon_CDS

Missense

G374S

3.43

0.99

0.86

0.18

-

X

153524232

G

A

TKTL1

Exon_CDS

Missense

R7K

0.12

0.22

0.80

0.19

-

4

88536013

TAGCAGTGACAGCAGCAAC

T

DSPP

Exon_CDS

Deletion

-

0.409

 

-

-

Dentinogenesis imperfecta, Shields type II/III, 125490/125500 (3); Deafness,autosomal dominant 36, with dentinogenesis, 605594 (3);

10

33136818

TAA

T

C10orf68

Exon_CDS

Deletion

-

−0.964

-

-

-

-

15

42302337

CA

C

PLA2G4E

Exon_CDS

Deletion

-

1.58

-

-

-

-

14

98444454

TC

T

C14orf64

5’UTR

Deletion

-

3.87

-

-

-

-