Table 7.

TSC2 variants

Variant	Predictions	Max Sub‐pop frequency	ExAC frequency	Inheritance
chr16.hg19.g.2121617T>C	PP: B; MT: D	0.00572	0.000364	M
chr16.hg19.g.2105504A>G	PP: B; MT: D	0.00018	9.88E‐05	DN
chr16.hg19.g.2134508G>T	PP: B; MT: D	0.025217	0.006683	M
chr16.hg19.g.2122297G>C	PP: D; MT: D	0.000453	0.000248	P
chr16.hg19.g.2138546G>A	PP: B; MT: D	0.009771	0.005086	U
chr16.hg19.g.2138546G>A	PP: B; MT: D	0.009771	0.005086	M
chr16.hg19.g.2137939A>G	PP: B; MT: D	0.000122	3.36E‐05	U
chr16.hg19.g.2120487G>A	PP: D; MT: D	0.005559	0.003308	M
chr16.hg19.g.2121873G>A	PP: B; MT: D	0.000554	0.000249	U
chr16.hg19.g.2138600G>A	PP: D; MT: D	0.001163	0.000168	P
chr16.hg19.g.2110765C>T	PP: B; MT: D	0.002212	0.000944	P
chr16.hg19.g.2112558G>A	PP: B; MT: D	0.002941	0.001535	U
chr16.hg19.g.2134981CCTT>C	Not listed; in frame deletion	0.01842	0.010604	M
chr16.hg19.g.2138320C>CCAGCGGGTAGGGAATATGGGGCTCCCT	Not listed; in frame insertion		Not in ExAC	P
chr16.hg19.g.2120487G>A	PP: D; MT: D	0.005559	0.003308	U
chr16.hg19.g.2134981CCTT>C	Not listed	0.01842	0.010604	U
chr16.hg19.g.2121536G>A	PP: D	0.000927	0.000184	P
chr16.hg19.g.2120487G>A	PP: D; MT: D	0.005559	0.003308	U

PP, Polyphen2; MT, Mutation Taster; B, Benign; D, Deleterious; M, Maternal; P, Paternal; DN, Denovo; U, Unknown.