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. 2017 Nov 27;1(2):123–132. doi: 10.3233/KCA-170018

Table 2.

Frequency of selected pRCC-related mutations among n = 16 out of 35 patient samples in whom adequate tumor tissue DNA was extracted for whole exome sequencing

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.