Gene and mutation | Type of mutation | Status in Finland |
---|---|---|
BRCA1 | ||
Ex 11, 1924 delA | Frameshift | Unique |
Ex 11, 2803 delAA | Frameshift | Founder |
Ex 11, 3604 delA | Frameshift | Founder |
Ex 11, 3744 delT | Frameshift | Founder |
Ex 11, 3904 C>A | Nonsense | Unique |
Ex 11, 4153 delA | Frameshift | Unique |
Int 11, 4216 (−2)A>G | Splice site | Founder |
Ex 13, 4446 C>T | Nonsense | Founder |
Ex 17, 5145 del 11 bp | Frameshift | Unique |
Ex 20, 5370 C>T | Nonsense | Founder |
Ex 20, 5385 insC | Frameshift | Unique |
BRCA2 | ||
Ex 9, 999 del5 | Frameshift | Founder |
Ex 11, 4081 insA | Frameshift | Founder |
Ex 11, 5797 G>T | Nonsense | Founder |
Ex 11, 6503 delTT | Frameshift | Founder |
Ex 15, 7708 C>T | Nonsense | Founder |
Ex 18, 8555 T>G | Nonsense | Founder |
Int 23, 9346 (−2)A>G | Splice site | Founder |