Gene | Total samples tested | With Known SNVs | With Known Indels | With Known CNVs | ||
---|---|---|---|---|---|---|
Exons Tested | N | Exons Tested | N | N | ||
APC | 14 | 4,8,16 | 9 | 5,16 | 4 | 1 |
ATM | 1 | - | - | 10 | 1 | - |
BAP1 | 1 | - | - | 8 | 1 | - |
BMPR1A | 1 | - | - | - | - | 1 |
BRCA1 | 48 | 2,3,4,6,10,12,13,17,20,23 | 13 | 2,3,7,8,10,14,15,16,19,23 | 23 | 12 |
BRCA2 | 38 | 3,4,9,11,12,14,18,23,27 | 12 | 5,10,11,14,15,17 | 21 | 5 |
CDH1 | 12 | 1,3,5,7,10,14 | 7 | 8,10,12,15 | 4 | 1 |
CDKN2A | 2 | 2 | 2 | - | - | - |
CHEK2 | 1 | 11 | 1 | - | - | - |
EGFR | 1 | 20 | 1 | - | - | - |
EPCAM | 1 | - | - | - | - | 1 |
FH | 5 | 1,8 | 2 | 7,8 | 2 | 1 |
MLH1 | 26 | 1,4,7,12,14,19 | 7 | 1,2,9,10,11,12,16,19 | 16 | 3 |
MSH2 | 44 | 2,3,5,6,7,8,10,12 | 21 | 6,7,12,13 | 6 | 17 |
MSH6 | 10 | - | - | 4,5,6,8,9,10 | 10 | - |
MUTYH | 10 | 2,7,10,12,13,15,16 | 8 | 10,14 | 2 | - |
PALB2 | 5 | 4,7,9 | 3 | - | - | 2 |
PTEN | 4 | 1,5 | 3 | 3 | 1 | - |
RB1 | 2 | 12 | 1 | 22 | 1 | - |
SMAD4 | 2 | - | - | 10,12 | 2 | - |
STK11 | 2 | 5 | 1 | 1 | 1 | - |
TP53 | 3 | 2,3,10 | 3 | - | - | - |
TOTAL | 233 | 94 | 95 | 44 |