|
ENST00000519221.6:n.371G>T
(MCPH1)
|
|
|
|
ENST00000521129.2:c.192G>T
(MCPH1)
|
ENSP00000509664.1:p.Trp64Cys
|
|
|
ENST00000521175.2:n.868G>T
(MCPH1)
|
|
|
|
ENST00000687324.1:n.1083G>T
(MCPH1)
|
|
|
|
ENST00000687413.1:c.234G>T
(MCPH1)
|
ENSP00000510583.1:p.Trp78Cys
|
|
|
ENST00000687720.1:c.*2093G>T
(MCPH1)
|
ENSP00000510728.1:n.*2093G>T
|
|
|
ENST00000688101.1:c.2302G>T
(MCPH1)
|
|
|
|
ENST00000688388.1:c.*134G>T
(MCPH1)
|
ENSP00000510092.1:n.*134G>T
|
|
|
ENST00000688912.1:n.2156G>T
(MCPH1)
|
|
|
|
ENST00000689148.1:n.1105G>T
(MCPH1)
|
|
|
|
ENST00000689348.1:c.2145G>T
(MCPH1)
|
ENSP00000509554.1:p.Trp715Cys
|
|
|
ENST00000689633.1:c.1935+44608G>T
(MCPH1)
|
ENSP00000509054.1:n.1935+44608G>T
|
|
|
ENST00000689736.1:c.789G>T
(MCPH1)
|
ENSP00000509722.1:p.Trp263Cys
|
|
|
ENST00000690159.1:c.*2424G>T
(MCPH1)
|
ENSP00000510482.1:n.*2424G>T
|
|
|
ENST00000690708.1:c.990G>T
(MCPH1)
|
ENSP00000510400.1:p.Trp330Cys
|
|
|
ENST00000690826.1:c.2145G>T
(MCPH1)
|
ENSP00000510536.1:p.Trp715Cys
|
|
|
ENST00000691435.1:c.2145G>T
(MCPH1)
|
ENSP00000510652.1:p.Trp715Cys
|
|
|
ENST00000691655.1:c.*1082G>T
(MCPH1)
|
ENSP00000509652.1:n.*1082G>T
|
|
|
ENST00000692836.1:c.2145G>T
(MCPH1)
|
ENSP00000509971.1:p.Trp715Cys
|
|
|
ENST00000692938.1:c.2145G>T
(MCPH1)
|
ENSP00000509072.1:p.Trp715Cys
|
|
|
ENST00000693231.1:c.*1675+44608G>T
(MCPH1)
|
ENSP00000510764.1:n.*1675+44608G>T
|
|
|
ENST00000344683.10:c.2145G>T
(MCPH1)
MANE Select
|
ENSP00000342924.5:p.Trp715Cys
|
|
|
ENST00000629816.3:c.*3241C>A
(ANGPT2)
MANE Select
|
ENSP00000486858.2:n.*3241C>A
|
|
|
ENST00000325203.9:c.*3241C>A
(ANGPT2)
|
ENSP00000314897.5:n.*3241C>A
|
|
|
ENST00000344683.9:c.2145G>T
(MCPH1)
|
ENSP00000342924.5:p.Trp715Cys
|
|
|
ENST00000519221.5:n.252G>T
(MCPH1)
|
|
|
|
ENST00000521129.1:n.303G>T
(MCPH1)
|
|
|
|
NM_001118887.1:c.*3241C>A
(ANGPT2)
|
NP_001112359.1:n.*3241C>A
|
|
|
NM_001118888.1:c.*3241C>A
(ANGPT2)
|
NP_001112360.1:n.*3241C>A
|
|
|
NM_001147.2:c.*3241C>A
(ANGPT2)
|
NP_001138.1:n.*3241C>A
|
|
|
NM_024596.3:c.2145G>T
(MCPH1)
|
NP_078872.2:p.Trp715Cys
|
|
|
XM_011534755.1:c.2145G>T
(MCPH1)
|
XP_011533057.1:p.Trp715Cys
|
|
|
XM_011534756.1:c.2145G>T
(MCPH1)
|
XP_011533058.1:p.Trp715Cys
|
|
|
XM_011534757.1:c.2145G>T
(MCPH1)
|
XP_011533059.1:p.Trp715Cys
|
|
|
XM_011534758.1:c.2145G>T
(MCPH1)
|
XP_011533060.1:p.Trp715Cys
|
|
|
XM_011534759.1:c.2145G>T
(MCPH1)
|
XP_011533061.1:p.Trp715Cys
|
|
|
XM_011534760.1:c.1620G>T
(MCPH1)
|
XP_011533062.1:p.Trp540Cys
|
|
|
NM_001322042.1:c.2145G>T
(MCPH1)
|
NP_001308971.1:p.Trp715Cys
|
|
|
NM_001363979.1:c.2145G>T
(MCPH1)
|
NP_001350908.1:p.Trp715Cys
|
|
|
NM_001363980.1:c.1935+44608G>T
(MCPH1)
|
NP_001350909.1:n.1935+44608G>T
|
|
|
NM_024596.4:c.2145G>T
(MCPH1)
|
NP_078872.2:p.Trp715Cys
|
|
|
XM_011534755.3:c.2145G>T
(MCPH1)
|
XP_011533057.1:p.Trp715Cys
|
|
|
XM_011534756.3:c.2145G>T
(MCPH1)
|
XP_011533058.1:p.Trp715Cys
|
|
|
XM_011534757.3:c.2145G>T
(MCPH1)
|
XP_011533059.1:p.Trp715Cys
|
|
|
XM_011534758.3:c.2145G>T
(MCPH1)
|
XP_011533060.1:p.Trp715Cys
|
|
|
XM_011534759.3:c.2145G>T
(MCPH1)
|
XP_011533061.1:p.Trp715Cys
|
|
|
XM_011534760.2:c.1620G>T
(MCPH1)
|
XP_011533062.1:p.Trp540Cys
|
|
|
XM_017013829.2:c.2145G>T
(MCPH1)
|
XP_016869318.1:p.Trp715Cys
|
|
|
XM_017013831.2:c.1944G>T
(MCPH1)
|
XP_016869320.1:p.Trp648Cys
|
|
|
XM_017013832.2:c.1935+44608G>T
(MCPH1)
|
XP_016869321.1:n.1935+44608G>T
|
|
|
XM_017013833.2:c.2145G>T
(MCPH1)
|
XP_016869322.1:p.Trp715Cys
|
|
|
XR_001745596.2:n.2198G>T
(MCPH1)
|
|
|
|
NM_024596.5:c.2145G>T
(MCPH1)
MANE Select
|
NP_078872.3:p.Trp715Cys
|
|
|
NM_001118887.2:c.*3241C>A
(ANGPT2)
MANE Select
|
NP_001112359.1:n.*3241C>A
|
|
|
NM_001118888.2:c.*3241C>A
(ANGPT2)
|
NP_001112360.1:n.*3241C>A
|
|
|
NM_001147.3:c.*3241C>A
(ANGPT2)
|
NP_001138.1:n.*3241C>A
|
|
|
NM_001322042.2:c.2145G>T
(MCPH1)
|
NP_001308971.2:p.Trp715Cys
|
|
|
NM_001363980.2:c.1935+44608G>T
(MCPH1)
|
NP_001350909.1:n.1935+44608G>T
|
|
|
NM_001386335.1:c.*3241C>A
(ANGPT2)
|
NP_001373264.1:n.*3241C>A
|
|
|
NM_001386336.1:c.*3389C>A
(ANGPT2)
|
NP_001373265.1:n.*3389C>A
|
|
|
NM_001386337.1:c.*3389C>A
(ANGPT2)
|
NP_001373266.1:n.*3389C>A
|
|
