Table 4 Loss of heterozygosity in breast tumors from carriers of putative breast cancer-associated ATM variants
From: Rare variants in the ATMgene and risk of breast cancer
Nucleotide change | Effect | Site | Identifier | LOH |
|---|---|---|---|---|
c.170G > A | Protein truncating | Ontario | 43115 | No LOH |
c.442_446 delGACAT | Protein truncating | kConFab | 62558 | LOH of variant |
c.1924G > T | Protein truncating | Ontario | 91015 | No LOH |
c.3802delG | Protein truncating | kConFab | 81253 | LOH of variant |
c.3802delG | Protein truncating | Ontario | 43147 | No LOH |
c.5623C > T | Protein truncating | kConFab | 31015 | LOH of variant |
c.7271T > G | Align GVGD C65 | kConFab | 40012 | No LOH |
c.7271T > G | Align GVGD C65 | kConFab | 40032 | LOH of wild type |
c.7271T > G | Align GVGD C65 | kConFab | 40034 | No LOH |
c.7271T > G | Align GVGD C65 | kConFab | 70246 | No LOH |
c.7271T > G | Align GVGD C65 | kConFab | 60567 | No LOH |
c.7271T > G | Align GVGD C65 | kConFab | 20723 | No LOH |
c.7271T > G | Align GVGD C65 | kConFab | 51297 | 50% LOH of variant |
c.7271T > G | Align GVGD C65 | kConFab | 00574 | No LOH |
c.7638_7646del9 | Align GVGD C65 | Ontario | 91494 | No LOH |
c.7886_7890delTATTA | Protein truncating | kConFab | 31277 | LOH of variant |
c.8734A > G | Align GVGD C65 | Ontario | 62131 | LOH of variant |