Table 3.

Results of Celf6 resequencing study

DBsnp	Amplicon	Position within amplicon	SNP	AGRE, % (no.) of samples with SNP detected, of interpretable reads	Controls, % (no.) of samples with SNP detected, of interpretable reads	p value (Fisher's test), deviating from expected (Controls)	Type	Confirmed
Novel	B1	129	C → CG	0.27% (1/370)	0% (0/355)	0.510	Stop	Yes^{^a}
Novel	B1	150	C → CG	0.27% (1/370)	0% (0/355)	0.510	Intron	None
Novel	B1	247	T → CT	0.81% (3/370)	0.57% (2/353)	0.522	Intron	None
Novel	B1	263	T → CT	0.27% (1/370)	0.57% (2/353)	0.469	Intron	None
Novel	B2	88	C → CG	0.53% (2/375)	0.29% (1/341)	0.536	Intron	None
Novel	B2	104	T → TC	0% (0/375)	0.29% (1/341)	0.476	Intron	None
Novel	B2	200	G → AG	0.28% (1/357)	0% (0/341)	0.511	Intron	None
Novel	B2	362	G → GA	0% (0/375)	0.29% (1/341)	0.476	Intron	None
Novel	B2	391	T → CT	0% (0/375)	0.29% (1/341)	0.476	Intron	None
Novel	B2	459	G → AG	0% (0/375)	2.64% (9/341)	0.001	Intron	None
Novel	B2	513	C → CT	0% (0/375)	0.29% (1/341)	0.476	Intron	None
rs4625684	A3	60	T → C	100% (282/282)	100% (357/357)	1.000	Promoter/intron	In dbSNP
rs2959930	A3	147	C → CT	29.43% (83/282)	35.85% (128/357)	0.051	5′ UTR	In dbSNP
rs2959930	A3	147	C → T	6.74% (19/282)	3.64% (13/357)	0.055	5′ UTR	In dbSNP
Novel	A3	151	C → CT	0.71% (2/282)	1.12% (4/357)	0.459	5′ UTR	None
rs74026061	A3	165	G → CG	0.35% (1/282)	0% (0/357)	0.441	5′ UTR	In dbSNP
Novel	A3	166	C → CT	0% (0/282)	0.28% (1/357)	0.559	5′ UTR	None
Novel	A3	234	C → CT	0.35% (1/282)	0% (0/357)	0.441	5′ UTR	None
rs2959928	A4	91	C → CT	1.06% (4/377)	0% (0/363)	0.067	Promoter/intron	In dbSNP
rs2959929	A4	159	G → AG	4.26% (16/376)	2.48% (9/363)	0.129	Promoter/intron	In dbSNP
Novel	A4	233	C → CT	0.27% (1/376)	0% (0/363)	0.509	Promoter/intron	None
Novel	A4	50	G → AG	0% (0/376)	0.28% (1/363)	0.491	Promoter/intron	None
Novel	A4	169	C → AC	0% (0/376)	0.28% (1/363)	0.491	Promoter/intron	None

↵^a Confirmed in proband and father with bidirectional Sanger sequencing, as well as sequenome and allele-specific PCR assays.