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