|
ENST00000396420.8:c.1299G>C
(POMGNT1)
|
ENSP00000379698.4:p.Thr433=
|
|
|
ENST00000477114.2:n.1861G>C
(POMGNT1)
|
|
|
|
ENST00000497439.6:n.1471G>C
(POMGNT1)
|
|
|
|
ENST00000684817.1:n.1659G>C
(POMGNT1)
|
|
|
|
ENST00000684898.1:n.1861G>C
(POMGNT1)
|
|
|
|
ENST00000685230.1:c.*609G>C
(POMGNT1)
|
ENSP00000510305.1:n.*609G>C
|
|
|
ENST00000685275.1:n.1846G>C
(POMGNT1)
|
|
|
|
ENST00000685444.1:c.1200G>C
(POMGNT1)
|
ENSP00000510762.1:p.Thr400=
|
|
|
ENST00000685704.1:n.1861G>C
(POMGNT1)
|
|
|
|
ENST00000685775.1:n.2826G>C
(POMGNT1)
|
|
|
|
ENST00000685833.1:n.2177G>C
(POMGNT1)
|
|
|
|
ENST00000686252.1:n.2373G>C
(POMGNT1)
|
|
|
|
ENST00000686379.1:c.*423G>C
(POMGNT1)
|
ENSP00000508913.1:n.*423G>C
|
|
|
ENST00000686724.1:n.1471G>C
(POMGNT1)
|
|
|
|
ENST00000686737.1:c.1299G>C
(POMGNT1)
|
ENSP00000508736.1:p.Thr433=
|
|
|
ENST00000687112.1:n.2165G>C
(POMGNT1)
|
|
|
|
ENST00000687149.1:c.1299G>C
(POMGNT1)
|
ENSP00000509745.1:p.Thr433=
|
|
|
ENST00000687197.1:c.*239G>C
(POMGNT1)
|
ENSP00000510749.1:n.*239G>C
|
|
|
ENST00000687235.1:n.1861G>C
(POMGNT1)
|
|
|
|
ENST00000687613.1:n.2049G>C
(POMGNT1)
|
|
|
|
ENST00000687683.1:c.1299G>C
(POMGNT1)
|
ENSP00000508522.1:p.Thr433=
|
|
|
ENST00000688032.1:n.1861G>C
(POMGNT1)
|
|
|
|
ENST00000688596.1:n.1950G>C
(POMGNT1)
|
|
|
|
ENST00000688608.1:c.1200G>C
(POMGNT1)
|
ENSP00000508890.1:p.Thr400=
|
|
|
ENST00000688919.1:n.2495G>C
(POMGNT1)
|
|
|
|
ENST00000689031.1:n.1861G>C
(POMGNT1)
|
|
|
|
ENST00000689717.1:n.1471G>C
(POMGNT1)
|
|
|
|
ENST00000689756.1:c.*931G>C
(POMGNT1)
|
ENSP00000509023.1:n.*931G>C
|
|
|
ENST00000690377.1:n.1646G>C
(POMGNT1)
|
|
|
|
ENST00000690678.1:c.1299G>C
(POMGNT1)
|
ENSP00000508703.1:p.Thr433=
|
|
|
ENST00000691209.1:c.*239G>C
(POMGNT1)
|
ENSP00000510112.1:n.*239G>C
|
|
|
ENST00000691243.1:c.1299G>C
(POMGNT1)
|
ENSP00000510654.1:p.Thr433=
|
|
|
ENST00000692169.1:n.1448G>C
(POMGNT1)
|
|
|
|
ENST00000692202.1:n.1874G>C
(POMGNT1)
|
|
|
|
ENST00000692322.1:c.*1151G>C
(POMGNT1)
|
ENSP00000509017.1:n.*1151G>C
|
|
|
ENST00000692369.1:c.1299G>C
(POMGNT1)
|
ENSP00000508453.1:p.Thr433=
|
|
|
ENST00000692599.1:n.1861G>C
(POMGNT1)
|
|
|
|
ENST00000692635.1:c.*239G>C
(POMGNT1)
|
ENSP00000508425.1:n.*239G>C
|
|
|
ENST00000693168.1:n.1560G>C
(POMGNT1)
|
|
|
|
ENST00000693218.1:c.1299G>C
(POMGNT1)
|
ENSP00000510577.1:p.Thr433=
|
|
|
ENST00000693223.1:n.2247G>C
(POMGNT1)
|
|
|
|
ENST00000693365.1:n.3933G>C
(POMGNT1)
|
|
|
|
ENST00000371984.8:c.1299G>C
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Thr433=
|
|
|
ENST00000371984.7:c.1299G>C
(POMGNT1)
|
ENSP00000361052.3:p.Thr433=
|
|
|
ENST00000371992.1:c.1299G>C
(POMGNT1)
|
ENSP00000361060.1:p.Thr433=
|
|
|
ENST00000396420.7:c.*968G>C
(POMGNT1)
|
ENSP00000379698.3:n.*968G>C
|
|
|
ENST00000485714.1:n.685G>C
(POMGNT1)
|
|
|
|
NM_001243766.1:c.1299G>C
(POMGNT1)
|
NP_001230695.1:p.Thr433=
|
|
|
NM_001290129.1:c.1233G>C
(POMGNT1)
|
NP_001277058.1:p.Thr411=
|
|
|
NM_001290130.1:c.870G>C
(POMGNT1)
|
NP_001277059.1:p.Thr290=
|
|
|
NM_017739.3:c.1299G>C
(POMGNT1)
|
NP_060209.3:p.Thr433=
|
|
|
XM_005271010.1:c.1299G>C
(POMGNT1)
|
XP_005271067.1:p.Thr433=
|
|
|
XM_006710755.1:c.1299G>C
(POMGNT1)
|
XP_006710818.1:p.Thr433=
|
|
|
XM_006710756.1:c.1299G>C
(POMGNT1)
|
XP_006710819.1:p.Thr433=
|
|
|
XM_011540460.1:c.679-3780C>G
(TSPAN1)
|
XP_011538762.1:n.679-3780C>G
|
|
|
XM_011540461.1:c.634-3780C>G
(TSPAN1)
|
XP_011538763.1:n.634-3780C>G
|
|
|
XM_011541759.1:c.1233G>C
(POMGNT1)
|
XP_011540061.1:p.Thr411=
|
|
|
XM_011541760.1:c.1233G>C
(POMGNT1)
|
XP_011540062.1:p.Thr411=
|
|
|
XM_011541761.1:c.207G>C
(POMGNT1)
|
XP_011540063.1:p.Thr69=
|
|
|
XR_946706.1:n.1459G>C
(POMGNT1)
|
|
|
|
XM_011540460.3:c.679-3780C>G
(TSPAN1)
|
XP_011538762.1:n.679-3780C>G
|
|
|
XM_011541760.3:c.1233G>C
(POMGNT1)
|
XP_011540062.1:p.Thr411=
|
|
|
XM_017001690.1:c.1299G>C
(POMGNT1)
|
XP_016857179.1:p.Thr433=
|
|
|
NM_001243766.2:c.1299G>C
(POMGNT1)
|
NP_001230695.2:p.Thr433=
|
|
|
NM_001290129.2:c.1233G>C
(POMGNT1)
|
NP_001277058.2:p.Thr411=
|
|
|
NM_001290130.2:c.870G>C
(POMGNT1)
|
NP_001277059.2:p.Thr290=
|
|
|
NM_017739.4:c.1299G>C
(POMGNT1)
MANE Select
|
NP_060209.4:p.Thr433=
|
|
