|
ENST00000396420.8:c.1350_1354del
(POMGNT1)
|
ENSP00000379698.4:p.Trp451AlafsTer11
|
|
|
ENST00000477114.2:n.1912_1916del
(POMGNT1)
|
|
|
|
ENST00000497439.6:n.1522_1526del
(POMGNT1)
|
|
|
|
ENST00000684817.1:n.1710_1714del
(POMGNT1)
|
|
|
|
ENST00000684898.1:n.1912_1916del
(POMGNT1)
|
|
|
|
ENST00000685230.1:c.*660_*664del
(POMGNT1)
|
ENSP00000510305.1:n.*660_*664del
|
|
|
ENST00000685275.1:n.1897_1901del
(POMGNT1)
|
|
|
|
ENST00000685444.1:c.1251_1255del
(POMGNT1)
|
ENSP00000510762.1:p.Trp418AlafsTer11
|
|
|
ENST00000685704.1:n.1912_1916del
(POMGNT1)
|
|
|
|
ENST00000685775.1:n.2877_2881del
(POMGNT1)
|
|
|
|
ENST00000685833.1:n.2228_2232del
(POMGNT1)
|
|
|
|
ENST00000686252.1:n.2424_2428del
(POMGNT1)
|
|
|
|
ENST00000686379.1:c.*474_*478del
(POMGNT1)
|
ENSP00000508913.1:n.*474_*478del
|
|
|
ENST00000686724.1:n.1522_1526del
(POMGNT1)
|
|
|
|
ENST00000686737.1:c.1350_1354del
(POMGNT1)
|
ENSP00000508736.1:p.Trp451AlafsTer11
|
|
|
ENST00000687112.1:n.2216_2220del
(POMGNT1)
|
|
|
|
ENST00000687149.1:c.1350_1354del
(POMGNT1)
|
ENSP00000509745.1:p.Trp451AlafsTer11
|
|
|
ENST00000687197.1:c.*290_*294del
(POMGNT1)
|
ENSP00000510749.1:n.*290_*294del
|
|
|
ENST00000687235.1:n.1912_1916del
(POMGNT1)
|
|
|
|
ENST00000687613.1:n.2100_2104del
(POMGNT1)
|
|
|
|
ENST00000687683.1:c.1350_1354del
(POMGNT1)
|
ENSP00000508522.1:p.Trp451AlafsTer11
|
|
|
ENST00000688032.1:n.1912_1916del
(POMGNT1)
|
|
|
|
ENST00000688596.1:n.2001_2005del
(POMGNT1)
|
|
|
|
ENST00000688608.1:c.1251_1255del
(POMGNT1)
|
ENSP00000508890.1:p.Trp418AlafsTer11
|
|
|
ENST00000688919.1:n.2546_2550del
(POMGNT1)
|
|
|
|
ENST00000689031.1:n.1912_1916del
(POMGNT1)
|
|
|
|
ENST00000689717.1:n.1522_1526del
(POMGNT1)
|
|
|
|
ENST00000689756.1:c.*982_*986del
(POMGNT1)
|
ENSP00000509023.1:n.*982_*986del
|
|
|
ENST00000690377.1:n.1697_1701del
(POMGNT1)
|
|
|
|
ENST00000690678.1:c.1350_1354del
(POMGNT1)
|
ENSP00000508703.1:p.Trp451AlafsTer11
|
|
|
ENST00000691209.1:c.*290_*294del
(POMGNT1)
|
ENSP00000510112.1:n.*290_*294del
|
|
|
ENST00000691243.1:c.1350_1354del
(POMGNT1)
|
ENSP00000510654.1:p.Trp451AlafsTer11
|
|
|
ENST00000692169.1:n.1499_1503del
(POMGNT1)
|
|
|
|
ENST00000692202.1:n.1925_1929del
(POMGNT1)
|
|
|
|
ENST00000692322.1:c.*1202_*1206del
(POMGNT1)
|
ENSP00000509017.1:n.*1202_*1206del
|
|
|
ENST00000692369.1:c.1350_1354del
(POMGNT1)
|
ENSP00000508453.1:p.Trp451AlafsTer11
|
|
|
ENST00000692599.1:n.1912_1916del
(POMGNT1)
|
|
|
|
ENST00000692635.1:c.*290_*294del
(POMGNT1)
|
ENSP00000508425.1:n.*290_*294del
|
|
|
ENST00000693168.1:n.1611_1615del
(POMGNT1)
|
|
|
|
ENST00000693218.1:c.1350_1354del
(POMGNT1)
|
ENSP00000510577.1:p.Trp451AlafsTer11
|
|
|
ENST00000693223.1:n.2298_2302del
(POMGNT1)
|
|
|
|
ENST00000693365.1:n.3984_3988del
(POMGNT1)
|
|
|
|
ENST00000371984.8:c.1350_1354del
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Trp451AlafsTer11
|
|
|
ENST00000371984.7:c.1350_1354del
(POMGNT1)
|
ENSP00000361052.3:p.Trp451AlafsTer11
|
|
|
ENST00000371992.1:c.1350_1354del
(POMGNT1)
|
ENSP00000361060.1:p.Trp451AlafsTer11
|
|
|
ENST00000396420.7:c.*1019_*1023del
(POMGNT1)
|
ENSP00000379698.3:n.*1019_*1023del
|
|
|
ENST00000485714.1:n.736_740del
(POMGNT1)
|
|
|
|
NM_001243766.1:c.1350_1354del
(POMGNT1)
|
NP_001230695.1:p.Trp451AlafsTer11
|
|
|
NM_001290129.1:c.1284_1288del
(POMGNT1)
|
NP_001277058.1:p.Trp429AlafsTer11
|
|
|
NM_001290130.1:c.921_925del
(POMGNT1)
|
NP_001277059.1:p.Trp308AlafsTer11
|
|
|
NM_017739.3:c.1350_1354del
(POMGNT1)
|
NP_060209.3:p.Trp451AlafsTer11
|
|
|
XM_005271010.1:c.1350_1354del
(POMGNT1)
|
XP_005271067.1:p.Trp451AlafsTer11
|
|
|
XM_006710755.1:c.1350_1354del
(POMGNT1)
|
XP_006710818.1:p.Trp451AlafsTer11
|
|
|
XM_006710756.1:c.1350_1354del
(POMGNT1)
|
XP_006710819.1:p.Trp451AlafsTer11
|
|
|
XM_011540460.1:c.679-3825_679-3821del
(TSPAN1)
|
XP_011538762.1:n.679-3825_679-3821del
|
|
|
XM_011540461.1:c.634-3825_634-3821del
(TSPAN1)
|
XP_011538763.1:n.634-3825_634-3821del
|
|
|
XM_011541759.1:c.1284_1288del
(POMGNT1)
|
XP_011540061.1:p.Trp429AlafsTer11
|
|
|
XM_011541760.1:c.1284_1288del
(POMGNT1)
|
XP_011540062.1:p.Trp429AlafsTer11
|
|
|
XM_011541761.1:c.258_262del
(POMGNT1)
|
XP_011540063.1:p.Trp87AlafsTer11
|
|
|
XR_946706.1:n.1510_1514del
(POMGNT1)
|
|
|
|
XM_011540460.3:c.679-3825_679-3821del
(TSPAN1)
|
XP_011538762.1:n.679-3825_679-3821del
|
|
|
XM_011541760.3:c.1284_1288del
(POMGNT1)
|
XP_011540062.1:p.Trp429AlafsTer11
|
|
|
XM_017001690.1:c.1350_1354del
(POMGNT1)
|
XP_016857179.1:p.Trp451AlafsTer11
|
|
|
NM_001243766.2:c.1350_1354del
(POMGNT1)
|
NP_001230695.2:p.Trp451AlafsTer11
|
|
|
NM_001290129.2:c.1284_1288del
(POMGNT1)
|
NP_001277058.2:p.Trp429AlafsTer11
|
|
|
NM_001290130.2:c.921_925del
(POMGNT1)
|
NP_001277059.2:p.Trp308AlafsTer11
|
|
|
NM_017739.4:c.1350_1354del
(POMGNT1)
MANE Select
|
NP_060209.4:p.Trp451AlafsTer11
|
|
