Table 2 Open in new tab Detailed...

Table 2

Detailed whole-exome sequencing data for SNPs detected in the four family members

Type	Father	Mother	Son-case	Son-control
Total number of SNPs from each member	112,238	111,822	107,122	111,669
Missense	13,246	13,221	12,748	12,748
Readthrough	92	88	86	85
Nonsense	177	155	158	157
Splice site	2798	2732	2647	2731
Synonymous-coding	10,876	10,763	10,318	10,386
5′-UTR	9211	9055	8741	9040
3′-UTR	3387	3421	3238	3425
Intronic	70,013	69,952	66,830	70,645
Intergenic	2438	2435	2356	2452
Homozygous	45,121	44,639	49,047	48,643
Heterozygous	67,117	67,183	58,075	63,026
Total number of SNPs from all members				154,336

Type	Father	Mother	Son-case	Son-control
Total number of SNPs from each member	112,238	111,822	107,122	111,669
Missense	13,246	13,221	12,748	12,748
Readthrough	92	88	86	85
Nonsense	177	155	158	157
Splice site	2798	2732	2647	2731
Synonymous-coding	10,876	10,763	10,318	10,386
5′-UTR	9211	9055	8741	9040
3′-UTR	3387	3421	3238	3425
Intronic	70,013	69,952	66,830	70,645
Intergenic	2438	2435	2356	2452
Homozygous	45,121	44,639	49,047	48,643
Heterozygous	67,117	67,183	58,075	63,026
Total number of SNPs from all members				154,336