Table 3.

Polymorphisms identified for TSC1 and TSC2 in Taiwanese TSC population.

TSC1
Exon	Nucleotide change	Codon change	Polymorphism type	Frequency	Reported	Reference
Intron 3	c.106+15		Intron	13 (16 %)	N	This study
10	c.965 T>C	p.M322T	Missense	9 (11%)	R	[24]
Intron 11	c.1142-33 A>G		Intron	9 (11%)	R	LOVDa
Intron 12	c.1264-12 T>C		Intron	3 (4 %)	N	This study
Intron 14	c.1437-37 C>T		Intron	9 (11%)	R	LOVDa
15	c.1726 T>C	p.L576L	Silent	11 (13 %)	N	This study
15	c.1960 C>G	p.Q654E	Missense	3 (4 %)	N	This study
Intron 18	c.2392-35 T>C		Intron	9 (11%)	R	[24]
22	c.2829 C>T	p.A943A	Silent	3 (4 %)	R	[24]
TSC2
Exon	Nucleotide change	Codon change	Polymorphism type	Frequency	Reported	Reference
14	c.1593 C>T	p.I531I	Silent	3 (4 %)	R	[26]
Intron 15	c.1717-30 G>A		Intron	2 (2 %)	N	This study
Intron 15	c.1717-27 G>A		Intron	1 (1 %)	N	This study
Intron 21	c.2545+45 T>A		Intron	11 (13 %)	N	This study
23	c.2652 C>T	p.Y884Y	Silent	1 (1 %)	N	This study
26	c.3126 G>T	p.P1042P	Silent	1 (1 %)	R	DKb
Intron 27	c.3285-19 C>T		Intron	1 (1 %)	N	This study
29	c.3475 C>T	p.R1159R	Silent	1 (1 %)	N	This study
33	c.4047 G>A	p.A1349A	Silent	2 (2 %)	N	This study
Intron 33	c.4493+18 G>A		Intron	1 (1 %)	N	This study
Intron 38	c.5069-21 G>A		Intron	1 (1 %)	N	This study
Intron 39	c.5161-9 C>T		Intron	7 (8 %)	N	This study

* Frequence means the number of cases in 84 Taiwanese TSC patients.

a The the Leiden Open (source) Variation Database which was available at http://chromium.liacs.nl/lovd/.

b The database of Dr David Kwiatkowski which was available at http://tsc-project.partners.org/.