Table 2.
Gene | N (%) | Chr/exon | Function | AA Change |
MET | 1 (6) | 7 / 18 | nsSNV | K1198I |
FH | 0 | |||
CDKN2A | 1 (6) | 9 /1 | Stopgain | P89_delG90 |
PBRM1 | 3 (19) | 3 / 9,4,17 | nsSNV | Y738C |
T113P | ||||
I276V | ||||
SETD2 | 2(12) | 3 /12,3 | Stopgain | E1991X |
Frameshift deletion | D994fs | |||
KDM6A | 2(12) | X / 15,20 | Frameshift deletion | L373fs I786fs |
FAT1 | 2(12) | 4 / 2,14 | nsSNV | S3198F |
Stopgain | Q283X | |||
NF2 | 1 (6) | 22 / 5 | Deletion | P123_132del |
CUL | 1 (6) | 2/1 | nsSNV | R17P |
nsSNV - non-synonymous single nucleotide variant.