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Table 2 Filtered variations

From: Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report

Chromosome

Position

Region

Gene

Function

dbSNP132

1000G_2010Nov_ALL

PolyPhen2

SIFT

ref_allele

alter_allele

Proband

Father

Mother

chr1

223,175,758

exonic

DISP1

nonsynonymous SNV

-

-

1

0

G

A

â–³

×

×

chr1

240,371,141

exonic

FMN2

nonsynonymous SNV

-

-

0.76515

0

C

T

â–³

×

×

chr1

247,615,260

exonic

OR2B11

Deletion and frameshift > premature terminal codon

-

-

  

A

-

â–³

×

×

chr2

189,860,860

exonic

COL3A1

nonsynonymous SNV

-

-

0.784653

0

G

A

â–³

×

×

chr2

190,718,672

exonic

PMS1

nonsynonymous SNV

-

-

0.996

0

G

A

â–³

×

×

chr6

30,861,156

exonic

DDR1

nonsynonymous SNV

-

-

0.16

0.03

G

A

â–³

×

×

chr6

105,824,051

exonic

PREP

nonsynonymous SNV

-

-

0.241

0

C

T

â–³

×

×

chr8

113,277,807

exonic

CSMD3

nonsynonymous SNV

-

-

0.985

0

C

T

â–³

×

×

chr11

124,267,132

exonic

OR8B3

nonsynonymous SNV

-

-

0.275

0.02

A

G

â–³

×

×

chr12

49,580,541

exonic

TUBA1A

nonsynonymous SNV

-

-

0.777136

0

C

G

â–³

×

×

chr16

75,682,281

exonic

TERF2IP

nonsynonymous SNV

-

-

0.214

0.02

G

A

â–³

×

×

chr17

74,288,545

exonic

QRICH2

nonsynonymous SNV

-

-

0.995

0.01

C

G

â–³

×

×

chr19

1,055,329

exonic

ABCA7

nonsynonymous SNV

-

-

0.996

0

A

G

â–³

×

×

chr21

10,942,950

exonic

TPTE

nonsynonymous SNV

-

-

0.999

0.01

T

C

â–³

×

×

chr22

25,011,077

exonic

GGT1

nonsynonymous SNV

-

-

0.318

0.01

C

T

â–³

×

×

chrX

153,008,788

exonic

ABCD1

nonsynonymous SNV

-

-

1

0

G

A

â–³

×

×

  1. ref, reference; alter, alteration; exonic, exonic region; SNV, single nucleotide variation; △, heterozygous; ×, no SNV.