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In silico evalutation of missense variants: Mutation Taster

In silico evalutation of missense variants: Mutation Taster. Ana Terron, FRCPath part I course , London 2010. CFTR p.Ile148Thr. Grantham score (0-6) aa physical-chemical difference (not considered in prediction). CFTR p.Ile148Thr. CFTR p.Arg117His. MLH1 pGly232Arg.

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In silico evalutation of missense variants: Mutation Taster

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  1. In silico evalutation of missense variants: Mutation Taster Ana Terron, FRCPath part I course , London 2010

  2. CFTR p.Ile148Thr Grantham score (0-6) aa physical-chemical difference (not considered in prediction)

  3. CFTR p.Ile148Thr

  4. CFTR p.Arg117His

  5. MLH1 pGly232Arg Grantham score (0-6) aa physical-chemical difference (not considered in prediction)

  6. MLH1 pGly232Arg

  7. MSH2 p.Gly674Asp

  8. PTEN p.Phe104Ile

  9. MSH2 p.Gly674Asp; c.2021G>A splicing prediction

  10. PTEN p.Phe104Ile; c.310T>A splicing prediction

  11. CFTR p.Arg117His; c.350G>A splicing prediction

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