|
ENST00000396420.8:c.1833G>T
(POMGNT1)
|
ENSP00000379698.4:p.Leu611=
|
|
|
ENST00000497439.6:n.2005G>T
(POMGNT1)
|
|
|
|
ENST00000684817.1:n.2193G>T
(POMGNT1)
|
|
|
|
ENST00000684898.1:n.2395G>T
(POMGNT1)
|
|
|
|
ENST00000685230.1:c.*1143G>T
(POMGNT1)
|
ENSP00000510305.1:n.*1143G>T
|
|
|
ENST00000685275.1:n.2380G>T
(POMGNT1)
|
|
|
|
ENST00000685444.1:c.1734G>T
(POMGNT1)
|
ENSP00000510762.1:p.Leu578=
|
|
|
ENST00000685704.1:n.2499G>T
(POMGNT1)
|
|
|
|
ENST00000685833.1:n.4226G>T
(POMGNT1)
|
|
|
|
ENST00000686252.1:n.2907G>T
(POMGNT1)
|
|
|
|
ENST00000686379.1:c.*957G>T
(POMGNT1)
|
ENSP00000508913.1:n.*957G>T
|
|
|
ENST00000686724.1:n.3520G>T
(POMGNT1)
|
|
|
|
ENST00000686737.1:c.1833G>T
(POMGNT1)
|
ENSP00000508736.1:p.Leu611=
|
|
|
ENST00000687112.1:n.2699G>T
(POMGNT1)
|
|
|
|
ENST00000687149.1:c.1872G>T
(POMGNT1)
|
ENSP00000509745.1:p.Leu624=
|
|
|
ENST00000687197.1:c.*773G>T
(POMGNT1)
|
ENSP00000510749.1:n.*773G>T
|
|
|
ENST00000687235.1:n.3910G>T
(POMGNT1)
|
|
|
|
ENST00000687613.1:n.2473G>T
(POMGNT1)
|
|
|
|
ENST00000687683.1:c.1833G>T
(POMGNT1)
|
ENSP00000508522.1:p.Leu611=
|
|
|
ENST00000688032.1:n.2370G>T
(POMGNT1)
|
|
|
|
ENST00000688596.1:n.2484G>T
(POMGNT1)
|
|
|
|
ENST00000688608.1:c.1734G>T
(POMGNT1)
|
ENSP00000508890.1:p.Leu578=
|
|
|
ENST00000689031.1:n.2285G>T
(POMGNT1)
|
|
|
|
ENST00000689756.1:c.*1465G>T
(POMGNT1)
|
ENSP00000509023.1:n.*1465G>T
|
|
|
ENST00000690377.1:n.2180G>T
(POMGNT1)
|
|
|
|
ENST00000690678.1:c.1833G>T
(POMGNT1)
|
ENSP00000508703.1:p.Leu611=
|
|
|
ENST00000691185.1:n.304G>T
(POMGNT1)
|
|
|
|
ENST00000691209.1:c.*773G>T
(POMGNT1)
|
ENSP00000510112.1:n.*773G>T
|
|
|
ENST00000691243.1:c.*224G>T
(POMGNT1)
|
ENSP00000510654.1:n.*224G>T
|
|
|
ENST00000692202.1:n.2408G>T
(POMGNT1)
|
|
|
|
ENST00000692322.1:c.*1620G>T
(POMGNT1)
|
ENSP00000509017.1:n.*1620G>T
|
|
|
ENST00000692369.1:c.1833G>T
(POMGNT1)
|
ENSP00000508453.1:p.Leu611=
|
|
|
ENST00000692599.1:n.3708G>T
(POMGNT1)
|
|
|
|
ENST00000692635.1:c.*708G>T
(POMGNT1)
|
ENSP00000508425.1:n.*708G>T
|
|
|
ENST00000693168.1:n.3609G>T
(POMGNT1)
|
|
|
|
ENST00000693218.1:c.*394G>T
(POMGNT1)
|
ENSP00000510577.1:n.*394G>T
|
|
|
ENST00000693223.1:n.2781G>T
(POMGNT1)
|
|
|
|
ENST00000371984.8:c.1833G>T
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Leu611=
|
|
|
ENST00000371984.7:c.1833G>T
(POMGNT1)
|
ENSP00000361052.3:p.Leu611=
|
|
|
ENST00000371992.1:c.1833G>T
(POMGNT1)
|
ENSP00000361060.1:p.Leu611=
|
|
|
ENST00000396420.7:c.*1502G>T
(POMGNT1)
|
ENSP00000379698.3:n.*1502G>T
|
|
|
ENST00000475642.1:n.48G>T
(POMGNT1)
|
|
|
|
ENST00000480972.1:n.482G>T
(POMGNT1)
|
|
|
|
NM_001243766.1:c.1833G>T
(POMGNT1)
|
NP_001230695.1:p.Leu611=
|
|
|
NM_001290129.1:c.1767G>T
(POMGNT1)
|
NP_001277058.1:p.Leu589=
|
|
|
NM_001290130.1:c.1404G>T
(POMGNT1)
|
NP_001277059.1:p.Leu468=
|
|
|
NM_017739.3:c.1833G>T
(POMGNT1)
|
NP_060209.3:p.Leu611=
|
|
|
XM_005271010.1:c.1833G>T
(POMGNT1)
|
XP_005271067.1:p.Leu611=
|
|
|
XM_006710755.1:c.1833G>T
(POMGNT1)
|
XP_006710818.1:p.Leu611=
|
|
|
XM_006710756.1:c.1833G>T
(POMGNT1)
|
XP_006710819.1:p.Leu611=
|
|
|
XM_011540460.1:c.678+4212C>A
(TSPAN1)
|
XP_011538762.1:n.678+4212C>A
|
|
|
XM_011540461.1:c.633+4212C>A
(TSPAN1)
|
XP_011538763.1:n.633+4212C>A
|
|
|
XM_011541759.1:c.1767G>T
(POMGNT1)
|
XP_011540061.1:p.Leu589=
|
|
|
XM_011541760.1:c.1767G>T
(POMGNT1)
|
XP_011540062.1:p.Leu589=
|
|
|
XM_011541761.1:c.741G>T
(POMGNT1)
|
XP_011540063.1:p.Leu247=
|
|
|
XM_011540460.3:c.678+4212C>A
(TSPAN1)
|
XP_011538762.1:n.678+4212C>A
|
|
|
XM_011541760.3:c.1767G>T
(POMGNT1)
|
XP_011540062.1:p.Leu589=
|
|
|
XM_017001690.1:c.1833G>T
(POMGNT1)
|
XP_016857179.1:p.Leu611=
|
|
|
NM_001243766.2:c.1833G>T
(POMGNT1)
|
NP_001230695.2:p.Leu611=
|
|
|
NM_001290129.2:c.1767G>T
(POMGNT1)
|
NP_001277058.2:p.Leu589=
|
|
|
NM_001290130.2:c.1404G>T
(POMGNT1)
|
NP_001277059.2:p.Leu468=
|
|
|
NM_017739.4:c.1833G>T
(POMGNT1)
MANE Select
|
NP_060209.4:p.Leu611=
|
|
