Table 3.

Mutations identified in seven brain tubers from patient 1560.

Exon	Mutation	Read frequency of variant allele (%)
		S1	S2	S3	S4	S5	S6	S7
TSC2‐ex33	4375C>T, R1459X	44	42	45	51	46	46	49
TSC2‐ex17	1864C>T, R622W	2.3	7.2	1.4	1.7	3.5	0.7	3.4

		T allele frequency by mass spec. (%)
TSC2‐ex17	1864C>T, R622W	3.34	10.79	1.74	2.33	6.55	0.53	1.77

Samples S1–S6 were derived from areas grossly consistent with cortical tubers. S7 was derived from tissue that appeared to be normal brain.