Table 1

Mutations and primer sequences in patients with tuberous sclerosis

Patient		Number of parents studied	Gene	Exon	Mutation			Primer sequence	Anealing temperature (°)	Assay sensitivity
Patient		Number of parents studied	Gene	Exon	Mutation	AA effect	Type	Primer sequence	Anealing temperature (°)	Assay sensitivity
*Family with possible gonadal mosaicism in which two half siblings had tuberous sclerosis, so only one parent was a suspect for having somatic mosaicism.
†Families with possible gonadal mosaicism, in which two siblings had tuberous sclerosis.
‡Sporadic case in which clone determined rate of mosaicism was 4.3%.
1	BHM3901	2	TSC1	8	954 C>T	245 R>X	Nonsense	GGACCATGAACTGGACCATT	61	<1:100
2	BG401	2	TSC1	8	954 C>T	245 R>X	Nonsense	GGACCATGAACTGGACCATT	61	<1:200
3	BG4501	2	TSC2	7	767 ins G	Truncation	Insertion	AAACCCCACCTTCCAGCC	69	<1:500
4	BG3101	2	TSC2	11	1219 T>G	407 Y>D	Missense	CATCTCTCCACCAGTTCAAATTC	61	<1:100
5	BHM4701	1	TSC2	13	1372 C>T	458 R>X	Nonsense	CCCGCAGGAGCGAGTTCT	58	<1:500
6	BHM5701	2	TSC2	13	1372 C>T	458 R>X	Nonsense	CCCGCAGGAGCGAGTTCT	58	<1:500
7	BHM1001	2	TSC2	13	1372 C>T	458 R>X	Nonsense	CCCGCAGGAGCGAGTTCT	58	<1:500
8	BHM4401	2	TSC2	14	1472 C>A	491 S>X	Nonsense	GGATGTGGGAGAGCTTCT	58	<1:500
9	SN*	1	TSC2	16	1831 C>T	611 R>W	Missense	AGCCACCATACCTGCAGTCA	66	<1:500
10	BHM3201	2	TSC2	16	1832 G>A	611 R>Q	Missense	AGCCACCATACCTGCATCT	59	<1:500
11	BHM4301	2	TSC2	16	1832 G>A	611 R>Q	Missense	AGCCACCATACCTGCATCT	59	<1:200
12	BHM9701	2	TSC2	16	1832 G>A	611 R>Q	Missense	AGCCACCATACCTGCATCT	59	<1:200
13	BG4001	2	TSC2	16	1832 G>A	611 R>Q	Missense	AGCCACCATACCTGCATCT	59	<1:200
14	BG5301	1	TSC2	16	1832 G>A	611 R>Q	Missense	AGCCACCATACCTGCATCT	59	<1:200
15	BHM14301	2	TSC2	16	1832 G>A	611 R>Q	Missense	AGCCACCATACCTGCATCT	59	<1:200
16	LR83	2	TSC2	29	3412 C>T	1138 R>X	Nonsense	TTCAGGGGGCCATGGTCATT	57	<1:500
17	BHM401	2	TSC2	29	3412 C>T	1138 R>X	Nonsense	TTCAGGGGGCCATGGTCATT	58	<1:200
18	BHM5801	2	TSC2	29	3412 C>T	1138 R>X	Nonsense	TTCAGGGGGCCATGGTCATT	59	<1:200
19	BHM14901	2	TSC2	29	3442 C>T	1148 Q>X	Nonsense	TTCAGGGGGCCATGGTCATT	69	<1:100
20	28-02†	2	TSC2	33	4255 C>T	1419 Q>X	Nonsense	CCCGTCCAGGGTCCCTGATTA	69	<1:100
21	BHM12401	2	TSC2	33	4313 G>A	1438 R>Q	Missense	GGACCCTCGGGCTGGCTCT	69	<1:100
22	BHM8201†	2	TSC2	35	4620 C>A	1540 Y>X	Nonsense	CGGCGATCTTGTGGGTGACT	64	<1:500
23	LR85	2	TSC2	38	5024 C>T	1675 P>L	Missense	TCCACGTGATCGTCACTCT	65	<1:100
24	BHM2601	1	TSC2	38	5024 C>T	1675 P>L	Missense	TCCACGTGATCGTCACTCT	65	<1:100
25	BHM2601	1	TSC2	38	5024 C>T	1675 P>L	Missense	TCCACGTGATCGTCACTCT	65	<1:100
26	BHM9001	1	TSC2	38	5024 C>T	1675 P>L	Missense	TCCACGTGATCGTCACTCT	65	<1:100
27	BHM9201	2	TSC2	39	5075-8 delAGGG	Truncation	Deletion	AGTCTCCCCAGACATGGCCT	65	<1:200
28	LR87	2	TSC2	40	5238-5255 del18	1746delHIKRLR	Inframe deletion		57	<1:100
29	ONK110	2	TSC2	40	5238-5255 del18	1746delHIKRLR	Inframe deletion		57	<1:100
30	ONK114	2	TSC2	40	5238-5255 del18	1746delHIKRLR	Inframe deletion		57	<1:100
31	ONK146‡	0	TSC2	27	3206-7 delTG	Truncation	Deletion	TGGGAACAAGCTTGTCACTGA	66	NA