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Table 4 Sequence variants observed only in high-risk ASD families

From: Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

Variant (Ref/Obs)

Gene

Coordinate (hg19)

Pedigree structure

Tested affecteds in pedigree

Affecteds with variant

Coding change

ESP6500_ALL

G/A

RAB11FIP5

chr2:73302656

2-Generation

3

3

P652L

 

C/G

AUP1

chr2:74756328

Extended

5

1

R90S

 

T/C

SCN3A

chr2:165946964

Extended

6

1

E1851G

 

T/C

ATP11B

chr3:182583394

Extended

9

2

S451P

 

A/G

KLHL6

chr3:183226296

2-Generation

5

4

F154L, splicing

 

C/T

AKAP9

chr7:91736684

Extended

7

1

R3832C

0.000154

G/C

PDK4

chr7:95215047

2-Generation

6

3

S381X

 

C/G

RELN

chr7:103214555

Extended

7

1

D1499H

0.000231

G/A

DCAF11

chr14:24590630

2-Generation

3

2

G435R

 

G/A

RNF31

chr14:24617687

Extended

9

1

splicing

 

G/C

IRF9

chr14:24634003

Extended

9

1

R277T

 

G/A

SDR39U1

chr14:24909513

2-Generation

6

2

P220S

 

T/A

PRKD1

chr14:30095731

2-Generation

3

2

D586V

 

C/T

SEC23A

chr14:39545251

2-Generation

3

1

G292D

 

G/A

ITPK1

chr14:93418316

2-Generation

5

2

P238L

 

G/A

CCDC85C

chr14:99988547

Extended

9

1

R300W

 

A/G

C14orf2

chr14:104381450

2-Generation

6

5

I26T

 

G/T

TRPM1

chr15:31329966

Extended

5

1

T857K

 

T/C

FMN1

chr15:33359761

Extended

9

3

R109G

 

G/T

PGBD4

chr15:34395847

Extended

9

4

G372V

0.000231

C/T

JMJD7

chr15:42129054

Extended

9

4

R260C

0.00068

C/T

CASC4

chr15:44620915

Extended

5

1

R139X

 

G/C

SPATA5L1

chr15:45695534

2-Generation

5

3

D303H

 

C/G

PYGO1

chr15:55839207

Extended

7

1

G92R

 

C/G

PRTG

chr15:55916638

Extended

9

2

A999P

 

G/A

NUDT7

chr16:77756514

Extended

9

4

R12K, splicing

 

G/A

DEFB124

chr20:30053379

Extended

7

4

P49L

0.000154

A/G

EPB41L1

chr20:34809850

Extended

9

1

D733G

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