Gene | Exon | Mutation | Codon | Effect | Number of families |
---|---|---|---|---|---|
BRCA1 | 5 | 278delC | 68 | I68X | 1 |
BRCA1 | 5 | 331+1G→C | NA | Splice site | 1 |
BRCA1 | 5 | 331-11 T→G | NA | Splice site | 2 |
BRCA1 | IVS6 | 421-2delA | NA | Splice site | 1 |
BRCA1 | 7 | 546 G→T | 143 | Stop143 | 6 |
BRCA1 | 8 | 666+1G→T | NA | Splice site | 1 |
BRCA1 | IVS10 | 790-1G→A | NA | Splice site | 1 |
BRCA1 | 13 | 4446C→T | 1443 | R1443X | 1 |
BRCA1 | 13 | Exon 13 duplication | NA | NA | 3 |
BRCA1 | 15 | 4604–2 A→G | NA | Splice site | 1 |
BRCA1 | 15 | 4744delCT | 1542 | Stop 1572 | 2 |
BRCA1 | 16 | 5061delA | 1648 | Stop1657 | 1 |
BRCA1 | 18 | 5271+4 A→G | NA | Splice site | 1 |
BRCA1 | 21 | 5427delG | 1792 | Stop1792 | 1 |
BRCA1 | 22 | 5464G→A | 1782 | W1782X | 1 |
BRCA1 | 24 | 5622C→T | 1835 | R1835X | 2 |
BRCA1 | Deletion exons 3-15 | NA | NA | NA | 1 |
BRCA1 | Deletion exons 14-20 | NA | NA | NA | 1 |
BRCA2 | 2 | 253delC | 9 | STOP24 | 1 |
BRCA2 | 7 | 767 insAT | 180 | Stop185 | 1 |
BRCA2 | 7 | 800delAT | 266 | Stop204 | 1 |
BRCA2 | IVS7 | IVS7+2 T→G | NA | Splice site | 2 |
BRCA2 | 8 | 860G→A | NA | Splice site | 1 |
BRCA2 | 9 | 983delACAG | 252 | Stop275 | 2 |
BRCA2 | 16 | 7990delATA insTT | 2588 | Stop 2647 | 1 |
BRCA2 | 17 | 8205–1 G→C | NA | Splice site | 1 |
BRCA2 | 18 | 8525delC | 2766 | Stop 2776 | 2 |
BRCA2 | 22 | 9132delC | 2968 | Stop2975 | 1 |
BRCA2 | 22 | 9179C→G | 2984 | Stop2984 | 1 |
BRCA2 | 23 | 9318insA | 3030 | Stop 3047 | 1 |