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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