Table 2. .

Mutations Detected in BBS12 in Families with BBS^[Note]

	Amino Acid Change		Nucleotide Change
Family	Allele 1	Allele 2	Allele 1	Allele 2	Ethnic Origin	Other Mutated BBS Genes
V.3; III.12	R355X	R355X	1063C→T	1063C→T	Gypsy	NDD
VII.7	V113del	V113del	335delTAG	335delTAG	Chinese	NDD
III.17	F90fsX112	T501M	268delT	1502C→T	White	NDD
IV.15	N506K/P507del	G630fsX638	1518delCCC	1890delCT	White	NDD
I.1	E495fsX498	E495fsX498	1483delGA	1483delGA	Kurdish	NDD
I.11; VII.16	F372fsX373	F372fsX373	1114delTT	1114delTT	White	NDD
I.7	T257fsX266	T257fsX266	769insA	769insA	Algerian	BBS3a (R122Q/N)
III.30	A289P	A289P	865G→C	865G→C	White	NDD
V.6	G594fsX605	G630fsX638	1779insA	1890delCT	White	NDD
I.14	P159L	I346T	476C→T	1037T→C	White	NDD
AR 198-04	F372fsX373	G540V	1114delTT	1619G→T	White	NDD
AR 273-04	F372fsX373	Q511-Q513 del	1114delTT	1529delACAGATGCA	White	NDD
AR 316-03	E365fsX382	X711Y-X728	1092delA	2133G→C	White	NDD
AR 14-04	G540V	…	1619G→T	…	White	NDD

Note.— The family numbering is done according to the laboratories' coding. NDD = no other mutation detected to date.

^aMutation of uncertain pathogenecity.