NC_000003.11:g.(?_52439196)_(52439840_?)del
|
|
|
NC_000003.12:g.(?_52404447)_(52408612_?)del
|
|
|
NC_000003.12:g.(?_52405100)_(52405922_?)del
|
|
|
NM_004656.4(BAP1):c.*644del
|
|
|
NM_004656.4(BAP1):c.1117-1G>A
|
rs2153226890
|
|
NM_004656.4(BAP1):c.1184C>G (p.Ser395Ter)
|
rs2153226861
|
|
NM_004656.4(BAP1):c.119dup (p.Val43fs)
|
rs2471364013
|
|
NM_004656.4(BAP1):c.1204G>T (p.Glu402Ter)
|
rs2153226848
|
|
NM_004656.4(BAP1):c.122+1del
|
rs2471363943
|
|
NM_004656.4(BAP1):c.122+5G>C
|
rs1578230320
|
|
NM_004656.4(BAP1):c.123-10_129del
|
|
|
NM_004656.4(BAP1):c.1251-1G>A
|
rs1578221396
|
|
NM_004656.4(BAP1):c.1251-1G>C
|
rs1578221396
|
|
NM_004656.4(BAP1):c.1251-2A>G
|
rs2153226773
|
|
NM_004656.4(BAP1):c.133G>A (p.Gly45Arg)
|
rs1553646045
|
|
NM_004656.4(BAP1):c.1472_1475del (p.Glu491fs)
|
rs1559586782
|
|
NM_004656.4(BAP1):c.1869del (p.Ser623fs)
|
rs2471324551
|
|
NM_004656.4(BAP1):c.1890+2T>C
|
rs2153226429
|
|
NM_004656.4(BAP1):c.1983+1G>C
|
|
|
NM_004656.4(BAP1):c.1984-1G>A
|
rs1553644634
|
|
NM_004656.4(BAP1):c.1984-2A>G
|
rs2153226226
|
|
NM_004656.4(BAP1):c.1984-3_1999del
|
rs1578218746
|
|
NM_004656.4(BAP1):c.1A>T (p.Met1Leu)
|
rs2153228694
|
|
NM_004656.4(BAP1):c.2012del (p.Tyr671fs)
|
rs2471320496
|
|
NM_004656.4(BAP1):c.2056+1G>A
|
rs1578218644
|
|
NM_004656.4(BAP1):c.2056+1G>C
|
rs1578218644
|
|
NM_004656.4(BAP1):c.254_255+15del
|
rs1559591511
|
|
NM_004656.4(BAP1):c.255+1G>A
|
rs1060503750
|
|
NM_004656.4(BAP1):c.255+1G>T
|
rs1060503750
|
|
NM_004656.4(BAP1):c.256-2A>G
|
rs2153228161
|
|
NM_004656.4(BAP1):c.273T>A (p.Cys91Ter)
|
rs2153228144
|
|
NM_004656.4(BAP1):c.299T>C (p.Leu100Pro)
|
rs1705221848
|
|
NM_004656.4(BAP1):c.37+1G>A
|
rs1559593339
|
|
NM_004656.4(BAP1):c.37+1G>T
|
rs1559593339
|
|
NM_004656.4(BAP1):c.375+1G>T
|
rs775451516
|
|
NM_004656.4(BAP1):c.375+2T>A
|
rs2153228069
|
|
NM_004656.4(BAP1):c.376-2A>G
|
rs1705203543
|
|
NM_004656.4(BAP1):c.38-2A>G
|
rs2153228637
|
|
NM_004656.4(BAP1):c.422A>G (p.His141Arg)
|
rs1705201896
|
|
NM_004656.4(BAP1):c.438-1G>A
|
rs2153227879
|
|
NM_004656.4(BAP1):c.438-1G>C
|
rs2153227879
|
|
NM_004656.4(BAP1):c.518A>G (p.Tyr173Cys)
|
rs1705195392
|
|
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp)
|
rs910211860
|
|
NM_004656.4(BAP1):c.580+1G>A
|
rs1553645785
|
|
NM_004656.4(BAP1):c.581-1G>T
|
rs1553645729
|
|
NM_004656.4(BAP1):c.581-4_599del
|
rs2471347358
|
|
NM_004656.4(BAP1):c.592del (p.Glu198fs)
|
rs1205668341
|
|
NM_004656.4(BAP1):c.659+3A>C
|
rs878854741
|
|
NM_004656.4(BAP1):c.660-2A>G
|
rs1559589809
|
|
NM_004656.4(BAP1):c.660-74_667del
|
rs2471344237
|
|
NM_004656.4(BAP1):c.67+1del
|
rs2153228616
|
|
NM_004656.4(BAP1):c.68-1G>C
|
|
|
NM_004656.4(BAP1):c.68-2A>C
|
rs2153228558
|
|
NM_004656.4(BAP1):c.68-2A>G
|
rs2153228558
|
|
NM_004656.4(BAP1):c.757C>T (p.Gln253Ter)
|
rs776240891
|
|
NM_004656.4(BAP1):c.783+1G>A
|
rs1705153755
|
|
NM_004656.4(BAP1):c.793_817dup (p.Thr273fs)
|
rs2471341236
|
|
NM_004656.4(BAP1):c.850G>T (p.Glu284Ter)
|
|
|
NM_004656.4(BAP1):c.931+1G>A
|
|
|
NM_004656.4(BAP1):c.932-1G>T
|
rs9848343
|
|
NM_004656.4(BAP1):c.932-2A>G
|
rs112194987
|
|
NM_004656.4(BAP1):c.932-2A>T
|
rs112194987
|
|
NM_004656.4(BAP1):c.932-8_934del
|
|
|
NM_004656.4(BAP1):c.953dup (p.Ser319fs)
|
rs2471337286
|
|
NM_004656.4(BAP1):c.993dup (p.Pro332fs)
|
rs1705111763
|
|