|
ENST00000396420.8:c.1624G>T
(POMGNT1)
|
ENSP00000379698.4:p.Glu542Ter
|
|
|
ENST00000477114.2:n.2186G>T
(POMGNT1)
|
|
|
|
ENST00000497439.6:n.1796G>T
(POMGNT1)
|
|
|
|
ENST00000684817.1:n.1984G>T
(POMGNT1)
|
|
|
|
ENST00000684898.1:n.2186G>T
(POMGNT1)
|
|
|
|
ENST00000685230.1:c.*934G>T
(POMGNT1)
|
ENSP00000510305.1:n.*934G>T
|
|
|
ENST00000685275.1:n.2171G>T
(POMGNT1)
|
|
|
|
ENST00000685444.1:c.1525G>T
(POMGNT1)
|
ENSP00000510762.1:p.Glu509Ter
|
|
|
ENST00000685704.1:n.2290G>T
(POMGNT1)
|
|
|
|
ENST00000685775.1:n.4666G>T
(POMGNT1)
|
|
|
|
ENST00000685833.1:n.4017G>T
(POMGNT1)
|
|
|
|
ENST00000686252.1:n.2698G>T
(POMGNT1)
|
|
|
|
ENST00000686379.1:c.*748G>T
(POMGNT1)
|
ENSP00000508913.1:n.*748G>T
|
|
|
ENST00000686724.1:n.3311G>T
(POMGNT1)
|
|
|
|
ENST00000686737.1:c.1624G>T
(POMGNT1)
|
ENSP00000508736.1:p.Glu542Ter
|
|
|
ENST00000687112.1:n.2490G>T
(POMGNT1)
|
|
|
|
ENST00000687149.1:c.1663G>T
(POMGNT1)
|
ENSP00000509745.1:p.Glu555Ter
|
|
|
ENST00000687197.1:c.*564G>T
(POMGNT1)
|
ENSP00000510749.1:n.*564G>T
|
|
|
ENST00000687235.1:n.3701G>T
(POMGNT1)
|
|
|
|
ENST00000687613.1:n.2290-509G>T
(POMGNT1)
|
|
|
|
ENST00000687683.1:c.1624G>T
(POMGNT1)
|
ENSP00000508522.1:p.Glu542Ter
|
|
|
ENST00000688032.1:n.2161G>T
(POMGNT1)
|
|
|
|
ENST00000688596.1:n.2275G>T
(POMGNT1)
|
|
|
|
ENST00000688608.1:c.1525G>T
(POMGNT1)
|
ENSP00000508890.1:p.Glu509Ter
|
|
|
ENST00000688919.1:n.3022G>T
(POMGNT1)
|
|
|
|
ENST00000689031.1:n.2102-509G>T
(POMGNT1)
|
|
|
|
ENST00000689717.1:n.1998G>T
(POMGNT1)
|
|
|
|
ENST00000689756.1:c.*1256G>T
(POMGNT1)
|
ENSP00000509023.1:n.*1256G>T
|
|
|
ENST00000690377.1:n.1971G>T
(POMGNT1)
|
|
|
|
ENST00000690678.1:c.1624G>T
(POMGNT1)
|
ENSP00000508703.1:p.Glu542Ter
|
|
|
ENST00000691209.1:c.*564G>T
(POMGNT1)
|
ENSP00000510112.1:n.*564G>T
|
|
|
ENST00000691243.1:c.*15G>T
(POMGNT1)
|
ENSP00000510654.1:n.*15G>T
|
|
|
ENST00000692169.1:n.3288G>T
(POMGNT1)
|
|
|
|
ENST00000692202.1:n.2199G>T
(POMGNT1)
|
|
|
|
ENST00000692322.1:c.*1411G>T
(POMGNT1)
|
ENSP00000509017.1:n.*1411G>T
|
|
|
ENST00000692369.1:c.1624G>T
(POMGNT1)
|
ENSP00000508453.1:p.Glu542Ter
|
|
|
ENST00000692599.1:n.3499G>T
(POMGNT1)
|
|
|
|
ENST00000692635.1:c.*499G>T
(POMGNT1)
|
ENSP00000508425.1:n.*499G>T
|
|
|
ENST00000693168.1:n.3400G>T
(POMGNT1)
|
|
|
|
ENST00000693218.1:c.*185G>T
(POMGNT1)
|
ENSP00000510577.1:n.*185G>T
|
|
|
ENST00000693223.1:n.2572G>T
(POMGNT1)
|
|
|
|
ENST00000693365.1:n.5773G>T
(POMGNT1)
|
|
|
|
ENST00000371984.8:c.1624G>T
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Glu542Ter
|
|
|
ENST00000371984.7:c.1624G>T
(POMGNT1)
|
ENSP00000361052.3:p.Glu542Ter
|
|
|
ENST00000371992.1:c.1624G>T
(POMGNT1)
|
ENSP00000361060.1:p.Glu542Ter
|
|
|
ENST00000396420.7:c.*1293G>T
(POMGNT1)
|
ENSP00000379698.3:n.*1293G>T
|
|
|
ENST00000480972.1:n.273G>T
(POMGNT1)
|
|
|
|
ENST00000485714.1:n.2525G>T
(POMGNT1)
|
|
|
|
NM_001243766.1:c.1624G>T
(POMGNT1)
|
NP_001230695.1:p.Glu542Ter
|
|
|
NM_001290129.1:c.1558G>T
(POMGNT1)
|
NP_001277058.1:p.Glu520Ter
|
|
|
NM_001290130.1:c.1195G>T
(POMGNT1)
|
NP_001277059.1:p.Glu399Ter
|
|
|
NM_017739.3:c.1624G>T
(POMGNT1)
|
NP_060209.3:p.Glu542Ter
|
|
|
XM_005271010.1:c.1624G>T
(POMGNT1)
|
XP_005271067.1:p.Glu542Ter
|
|
|
XM_006710755.1:c.1624G>T
(POMGNT1)
|
XP_006710818.1:p.Glu542Ter
|
|
|
XM_006710756.1:c.1624G>T
(POMGNT1)
|
XP_006710819.1:p.Glu542Ter
|
|
|
XM_011540460.1:c.678+5190C>A
(TSPAN1)
|
XP_011538762.1:n.678+5190C>A
|
|
|
XM_011540461.1:c.633+5190C>A
(TSPAN1)
|
XP_011538763.1:n.633+5190C>A
|
|
|
XM_011541759.1:c.1558G>T
(POMGNT1)
|
XP_011540061.1:p.Glu520Ter
|
|
|
XM_011541760.1:c.1558G>T
(POMGNT1)
|
XP_011540062.1:p.Glu520Ter
|
|
|
XM_011541761.1:c.532G>T
(POMGNT1)
|
XP_011540063.1:p.Glu178Ter
|
|
|
XM_011540460.3:c.678+5190C>A
(TSPAN1)
|
XP_011538762.1:n.678+5190C>A
|
|
|
XM_011541760.3:c.1558G>T
(POMGNT1)
|
XP_011540062.1:p.Glu520Ter
|
|
|
XM_017001690.1:c.1624G>T
(POMGNT1)
|
XP_016857179.1:p.Glu542Ter
|
|
|
NM_001243766.2:c.1624G>T
(POMGNT1)
|
NP_001230695.2:p.Glu542Ter
|
|
|
NM_001290129.2:c.1558G>T
(POMGNT1)
|
NP_001277058.2:p.Glu520Ter
|
|
|
NM_001290130.2:c.1195G>T
(POMGNT1)
|
NP_001277059.2:p.Glu399Ter
|
|
|
NM_017739.4:c.1624G>T
(POMGNT1)
MANE Select
|
NP_060209.4:p.Glu542Ter
|
|
