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Table 1

TSC1 polymorphisms identified in this study

Nucleotide changeEffectReported
489A>T S163S Novel 
965T>C M322T Knowna 
1047A>G P349P Novel 
IVS11-33G>A Intronic Novel 
1726T>C L576L Knownb 
2646C>T A882A Knowna 
2829C>T A943A Knowna 
3303G>A E1101E Novel 
3324C>T G1108G Novel 
Nucleotide changeEffectReported
489A>T S163S Novel 
965T>C M322T Knowna 
1047A>G P349P Novel 
IVS11-33G>A Intronic Novel 
1726T>C L576L Knownb 
2646C>T A882A Knowna 
2829C>T A943A Knowna 
3303G>A E1101E Novel 
3324C>T G1108G Novel 
a

http://expmed.bwh.harvard.edu/ts/TSC1-222.htm.

b

Ref. 17.

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