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Table 2

TSC1 mutations identified in transitional carcinoma tumor samples and cell lines

SampleExonChangeEffectTumor grade/stage
203A>G H58R G2T2 
473T>G F158C G1Ta 
Intron 7 IVS7-1G>A Splicing NI 
11 1041G>A W347X G3T2 
12 1250C>T T417Ia G3T2 
15 1727_1748del22insG L576C 577-583del G2T1 
15 1958_1959delTA Frameshift G2T1 
Intron 20 IVS20+1G>A Splicing G2T2 
HCV29b 163C>T Q55X NI 
RT4 15 1669delC Frameshift G1-2T2 
97-1 17 2074C>T R692X G2-3T3 
SampleExonChangeEffectTumor grade/stage
203A>G H58R G2T2 
473T>G F158C G1Ta 
Intron 7 IVS7-1G>A Splicing NI 
11 1041G>A W347X G3T2 
12 1250C>T T417Ia G3T2 
15 1727_1748del22insG L576C 577-583del G2T1 
15 1958_1959delTA Frameshift G2T1 
Intron 20 IVS20+1G>A Splicing G2T2 
HCV29b 163C>T Q55X NI 
RT4 15 1669delC Frameshift G1-2T2 
97-1 17 2074C>T R692X G2-3T3 
a

This variant, which has been described in TSC patients, was also found in the germ line of the bladder cancer patient.

b

TCC-derived cell lines.

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