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. 2003 Nov 11;89(10):1966–1970. doi: 10.1038/sj.bjc.6601425

Table 1. Summary of CHEK2 germline variants found in 120 patients with HPC in the SSCP analysis.

Mutation Amino-acid change Exon/intron Domain
252A>G Silent (E84) Exon 1 Unknown
319+(43−44)insA — Intron1 —
470T>C I157T Exon 3 FHAa
1100delC Frameshift Exon 10 Kinase
1312G>T D438Y Exon 11 Kinase
a

FHA=forkhead-associated domain.