|
ENST00000567027.6:c.*177_*178del
|
ENSP00000457521.2:n.*177_*178del
|
|
|
ENST00000682061.1:c.*1863_*1864del
|
ENSP00000508316.1:n.*1863_*1864del
|
|
|
ENST00000682064.1:n.1744_1745del
|
|
|
|
ENST00000682177.1:c.1560_1561del
|
ENSP00000507409.1:n.1560_1561del
|
|
|
ENST00000682235.1:n.1540_1541del
|
|
|
|
ENST00000682461.1:c.1623_1624del
|
ENSP00000507308.1:n.1623_1624del
|
|
|
ENST00000682653.1:n.2521_2522del
|
|
|
|
ENST00000682657.1:c.*1354_*1355del
|
ENSP00000507753.1:n.*1354_*1355del
|
|
|
ENST00000682721.1:c.*1320_*1321del
|
ENSP00000507535.1:n.*1320_*1321del
|
|
|
ENST00000682843.1:c.*1158_*1159del
|
ENSP00000508173.1:n.*1158_*1159del
|
|
|
ENST00000683003.1:c.*1354_*1355del
|
ENSP00000507576.1:n.*1354_*1355del
|
|
|
ENST00000683133.1:c.1701_1702del
|
ENSP00000508108.1:n.1701_1702del
|
|
|
ENST00000683243.1:c.*670_*671del
|
ENSP00000507042.1:n.*670_*671del
|
|
|
ENST00000683463.1:c.*1006_*1007del
|
ENSP00000507986.1:n.*1006_*1007del
|
|
|
ENST00000683548.1:n.1975_1976del
|
|
|
|
ENST00000683579.1:c.*1415_*1416del
|
ENSP00000506867.1:n.*1415_*1416del
|
|
|
ENST00000683587.1:n.2048_2049del
|
|
|
|
ENST00000683681.1:c.*195_*196del
|
ENSP00000508110.1:n.*195_*196del
|
|
|
ENST00000683735.1:c.*1915_*1916del
|
ENSP00000508336.1:n.*1915_*1916del
|
|
|
ENST00000683853.1:c.*322_*323del
|
ENSP00000506834.1:n.*322_*323del
|
|
|
ENST00000683860.1:c.*637_*638del
|
ENSP00000507179.1:n.*637_*638del
|
|
|
ENST00000683884.1:c.*844_*845del
|
ENSP00000507004.1:n.*844_*845del
|
|
|
ENST00000684125.1:c.*177_*178del
|
ENSP00000507320.1:n.*177_*178del
|
|
|
ENST00000684203.1:n.3966_3967del
|
|
|
|
ENST00000684231.1:c.*927_*928del
|
ENSP00000507748.1:n.*927_*928del
|
|
|
ENST00000684263.1:c.*1141_*1142del
|
ENSP00000508369.1:n.*1141_*1142del
|
|
|
ENST00000684305.1:c.1965_1966del
|
ENSP00000506819.1:n.1965_1966del
|
|
|
ENST00000684415.1:c.*1068_*1069del
|
ENSP00000507227.1:n.*1068_*1069del
|
|
|
ENST00000684520.1:c.*776_*777del
|
ENSP00000506826.1:n.*776_*777del
|
|
|
ENST00000684602.1:c.*1183_*1184del
|
ENSP00000507996.1:n.*1183_*1184del
|
|
|
ENST00000684667.1:c.1848_1849del
|
ENSP00000507003.1:n.1848_1849del
|
|
|
ENST00000268097.10:c.1517_1518del
MANE Select
|
ENSP00000268097.6:p.Glu506ValfsTer17
|
|
|
ENST00000268097.9:c.1517_1518del
|
ENSP00000268097.5:p.Glu506ValfsTer17
|
|
|
ENST00000379915.4:c.599_600del
|
ENSP00000478716.1:p.Glu200ValfsTer16
|
|
|
ENST00000564677.5:n.309_310del
|
|
|
|
ENST00000565873.1:n.428_429del
|
|
|
|
ENST00000566304.5:c.1550_1551del
|
ENSP00000455114.1:p.Glu517ValfsTer17
|
|
|
ENST00000567027.5:c.1132_1133del
|
|
|
|
ENST00000567159.5:c.1517_1518del
|
ENSP00000456489.1:p.Glu506ValfsTer?
|
|
|
ENST00000567411.5:c.*1038_*1039del
|
ENSP00000455545.1:n.*1038_*1039del
|
|
|
ENST00000568777.5:n.6737_6738del
|
|
|
|
ENST00000569116.1:n.224_225del
|
|
|
|
NM_000520.4:c.1517_1518del
|
NP_000511.2:p.Glu506ValfsTer17
|
|
|
NM_000520.5:c.1517_1518del
|
NP_000511.2:p.Glu506ValfsTer17
|
|
|
NM_001318825.1:c.1550_1551del
|
NP_001305754.1:p.Glu517ValfsTer17
|
|
|
NR_134869.1:n.1761_1762del
|
|
|
|
NM_000520.6:c.1517_1518del
MANE Select
|
NP_000511.2:p.Glu506ValfsTer17
|
|
|
NM_001318825.2:c.1550_1551del
|
NP_001305754.1:p.Glu517ValfsTer17
|
|
|
NR_134869.2:n.1302_1303del
|
|
|
|
NR_134869.3:n.1302_1303del
|
|
|
