ATM germline mutations observed in Finnish AT families (partly unpublished results)13
| Exon | Codon | nt change | Predicted change in protein | Family ID |
|---|---|---|---|---|
| *Unpublished mutations. | ||||
| 4–5 | Unknown | Unknown | 200 bp deletion | FIAT8 |
| 14 | 602-603 | IVS14+3-4delAT | Skipping of exon 14 | FIAT4 |
| 37 | 1773-1774 | IVS37+9A>G | Insertion of Val, Ser, and Stop | FIAT3, FIAT5 |
| 48 | 2260 | 6779-6780delTA | Truncated protein | FIAT7 |
| 49* | 2303 | 6903insA | Truncated protein | FIAT4, FIAT5 |
| 53* | 2524 | 7522G>C | Ala>Pro | FIAT6, FIAT7 |
| 62 | 2904-2905 | 8710-8715delGAGACA | Deletion of Glu and Thr | FIAT3 |
| 65 | 3947 | 9139C>T | Arg>Stop | FIAT2 |