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)* |