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. Author manuscript; available in PMC: 2012 Dec 1.
Published in final edited form as: Pediatr Blood Cancer. 2011 May 25;57(6):930–938. doi: 10.1002/pbc.23174

Table I.

PTCH polymorphisms

Tumor Sequence variation Consequence
E2 None detected
E3 3158 T>C (heterozygous) Asparagine>Asparagine
E4 2430 A>G (heterozygous) Asparagine>Serine
E5 2910 T>C (heterozygous)
3932 C>T (heterozygous)
Serine>Serine
Proline>leucine
E7 None detected
E10 1641 C>T (homozygous) Serine>serine