BARD1 variants
| NT change | AA change | Cancer | Heterozygosity | Other references | ||||
|---|---|---|---|---|---|---|---|---|
| BC, breast cancer; OC, ovarian cancer. | ||||||||
| Putative neutral polymorphisms | ||||||||
| C143T | Pro24Ser | BC | Hetero | Thai et al6 | ||||
| A1009G | Lys312Lys | BC | Hetero | |||||
| C1126G | Thr351Thr | BC | Hetero, homo | Thai et al6 | ||||
| C1591T | HIs506HIs | BC | Hetero | Ishitobi et al4 | ||||
| G1592A | Val507Met | BC | Hetero, homo | Ishitobi et al,4 Thai et al6 | ||||
| G1804A | Leu587Leu | BC | Hetero | |||||
| A2285G | Ile738Val | BC | Hetero | |||||
| MCF7 variations | ||||||||
| G951A | Ser293Asn | BC | Hetero | |||||
| A1110C | Asp346Ala | BC | Hetero | |||||
| G1206C | Arg378Thr | BC | Hetero | Ishitobi et al4 | ||||
| A1290G | Gln406Arg | BC | Hetero | |||||
| G951//1089G | replace 47aa with 7aa (Ser293→Ser339) | BC | Hetero | |||||
| Putative disease associated mutations | ||||||||
| G1743C | Cys557Ser | OC | Hemi | Ghimenti et al,3 Thai et al6 | ||||
| T2006C | Cys645Arg | BC, OC | Hetero | |||||
| G2355A | Ser761Asn | BC | Hetero | Thai et al6 | ||||