Genename Variants
BRAP(NM_006768,BRCA1 associated protein,592aa) g.12:112082319T>C,c.1463A>G,p.K488R
BRAF(NM_004333,v-raf murine sarcoma viral oncogene homolog B,766aa) g.7:140501302T>C,c.770A>G,p.Q257R
BRAF(NM_004333,v-raf murine sarcoma viral oncogene homolog B,766aa) g.7:140500241G>A,c.901C>T,p.P301S
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65955758_65955759insCCTCCAGCC,c.8028_8029insCCTCCAGCC,p.2676_2677ins3aa
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65942422G>A,c.7598G>A,p.S2533N
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65924502T>C,c.5783T>C,p.I1928T
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65919019C>T,c.5621C>T,p.T1874M
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65908976C>T,c.4976C>T,p.T1659M
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65908750G>A,c.4750G>A,p.V1584I
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65908590G>T,c.4590G>T,p.Q1530H
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65908481A>G,c.4481A>G,p.E1494G
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65907914A>G,c.3914A>G,p.D1305G
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65907644T>C,c.3644T>C,p.I1215T
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65907629G>C,c.3629G>C,p.G1210A
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65907503A>G,c.3503A>G,p.D1168G
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65907447A>T,c.3447A>T,p.R1149S
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65907293C>T,c.3293C>T,p.S1098F
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65907278A>G,c.3278A>G,p.K1093R
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65850116C>T,c.674C>T,p.P225L
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65822444A>G,c.604A>G,p.S202G
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65822320C>G,c.480C>G,p.D160E
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65822267_65822269del,c.427_429del,p.143del
BPTF(NM_182641,bromodomain PHD finger transcription factor,2920aa) g.17:65822048G>A,c.208G>A,p.G70S
BPNT1(NM_006085,3'(2'), 5'-bisphosphate nucleotidase 1,308aa) g.1:220236134C>T,c.637G>A,p.D213N
BPNT1(NM_006085,3'(2'), 5'-bisphosphate nucleotidase 1,308aa) g.1:220232191G>A,c.922C>T,p.P308S
BPI(NM_001725,bactericidal/permeability-increasing protein,487aa) g.20:36965551T>A,c.1429T>A,p.F477I
BPI(NM_001725,bactericidal/permeability-increasing protein,487aa) g.20:36964033C>T,c.1382C>T,p.P461L
BPI(NM_001725,bactericidal/permeability-increasing protein,487aa) g.20:36959491C>T,c.1283C>T,p.P428L
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org