Table 4.

Additional CARD15 Sequence Variants Detected in AJ Controls, AJ Patients with Sporadic and Multiplex CD, SOJ Controls, and SOJ Patients from Multiplex Families with CD

		No. with Variant/Total in Group
		AJ Patients with CD
Variant	Haplotype	Multiplex	Sporadic	AJ Controls	SOJ Patientsfrom MultiplexFamilies with CD	SOJ Controls	Notes
Previously reported missense changes:
L248R	A	2/138	0/72	1/376	0/32	0/164	In one AJ family, unshared by affected sib pair; other AJ family uninformative
E441K	A	1/138	0/72	0/376	0/32	0/164	Shared by AJ affected sib pair
A612T	A	2/138	0/72	4/376	1/32	0/164	In one AJ family, shared by affected father and son; one AJ family unshared by affected sib pair; one SOJ family uninformative
R703C	A	0/138	0/72	0/376	1/32	0/164	Shared by SOJ affected sib pair
A918D	A	1/138	0/72	0/376	0/32	0/164	Shared by AJ affected sib pair
A725G	A	0/86	0/72	0/376	0/12	2/164
M863V	I	8/138	4/72	8/492	0/32	0/164
V955I	A	3/86	5/72		1/12
Previously reported silent or intronic changes:
5′ UTR −33 T→G	All, other than A	27/86	22/72		5/12
5′ UTR −15 T→A	A	2/86	0/72		0/12
S178S	A	25/86	30/72		5/12
R459R (SNP6)	All, other than A	29/86	23/72		5/12
R587R (SNP7)	A	25/86	32/72		4/12
A611A	A	1/86	1/72		0/12
IVS4+10 A→C	A	2/86	2/72	7/376	0/12	2/164
IVS8+158 C→T	B, C, E, F, G, I	50/138	15/72	72/492	6/32	24/164
Previously unreported missense changes:
D113N	A	0/138	1/72	0/376	0/32	0/164
D357A	A	0/138	1/72	1/376	0/32	0/164
I363F	A	0/138	0/72	0/376	1/32	1/164	Shared by SOJ affected sib pair
L550V	A	0/138	0/72	0/376	1/32	0/164	Unshared by SOJ affected sib pair
I939V	A	0/138	0/72	0/376	0/32	2/164