Table 2.

Observed germ line variants in BACH1.

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)*

* also homozygotes for the rare allele