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Table 2 Observed germ line variants in BACH1.

From: BACH1 Ser919Pro variant and breast cancer risk

Exon/Intron Nucleotide change Amino acid change Frequency for heterozygotes (%)
int5 508-31 C→G - 11/43 (25.6)
ex6 577 G→A Val193Ile 1/43 (2.3)
int14 2097+7 G→A - 1/43 (2.3)
ex19 2637 G→A Glu879Glu 31/43 (72.1)*
ex19 2755 C→T Ser919Pro 32/43 (74.4)*
ex20 3411 C→T Tyr1137Tyr 27/43 (62.8)*
  1. * also homozygotes for the rare allele