|
ENST00000686218.1:c.525_526del
|
ENSP00000509288.1:p.Ile176LeufsTer19
|
|
|
ENST00000691144.1:n.2671_2672del
|
|
|
|
ENST00000691249.1:n.1514_1515del
|
|
|
|
ENST00000442944.7:c.672_673del
|
ENSP00000392041.3:p.Ile225LeufsTer19
|
|
|
ENST00000536813.6:c.639_640del
|
ENSP00000438726.2:p.Ile214LeufsTer?
|
|
|
ENST00000640813.1:c.500_501del
|
ENSP00000491061.1:p.Thr167IlefsTer?
|
|
|
ENST00000648026.1:c.584_585del
|
ENSP00000498044.1:p.Thr195IlefsTer?
|
|
|
ENST00000648374.1:c.639_640del
|
ENSP00000497255.1:p.Ile214LeufsTer19
|
|
|
ENST00000649823.1:n.1147_1148del
|
|
|
|
ENST00000650101.1:c.621_622del
|
ENSP00000496970.1:p.Ile208LeufsTer19
|
|
|
ENST00000650307.1:n.1516_1517del
|
|
|
|
ENST00000652429.1:c.690_691del
MANE Select
|
ENSP00000498786.1:p.Ile231LeufsTer19
|
|
|
ENST00000278715.7:c.690_691del
|
ENSP00000278715.3:p.Ile231LeufsTer19
|
|
|
ENST00000392841.1:c.639_640del
|
ENSP00000376584.1:p.Ile214LeufsTer19
|
|
|
ENST00000442944.6:c.639_640del
|
ENSP00000392041.2:p.Ile214LeufsTer19
|
|
|
ENST00000537841.5:c.639_640del
|
ENSP00000444730.1:p.Ile214LeufsTer19
|
|
|
ENST00000542044.5:n.1135_1136del
|
|
|
|
ENST00000542729.5:c.600+279_600+280del
|
ENSP00000443058.1:n.600+279_600+280del
|
|
|
ENST00000543090.5:c.597_598del
|
ENSP00000445429.1:p.Ile200LeufsTer19
|
|
|
ENST00000543543.5:n.1165_1166del
|
|
|
|
ENST00000544182.1:n.905_906del
|
|
|
|
ENST00000544387.5:c.651+279_651+280del
|
ENSP00000438424.1:n.651+279_651+280del
|
|
|
ENST00000545621.5:c.*825_*826del
|
ENSP00000444849.1:n.*825_*826del
|
|
|
ENST00000546226.5:n.1218_1219del
|
|
|
|
NM_000190.3:c.690_691del
|
NP_000181.2:p.Ile231LeufsTer19
|
|
|
NM_001024382.1:c.639_640del
|
NP_001019553.1:p.Ile214LeufsTer19
|
|
|
NM_001258208.1:c.651+279_651+280del
|
NP_001245137.1:n.651+279_651+280del
|
|
|
NM_001258209.1:c.600+279_600+280del
|
NP_001245138.1:n.600+279_600+280del
|
|
|
XM_005271531.1:c.639_640del
|
XP_005271588.1:p.Ile214LeufsTer19
|
|
|
XM_005271532.1:c.639_640del
|
XP_005271589.1:p.Ile214LeufsTer19
|
|
|
XM_005271533.2:c.636_637del
|
XP_005271590.1:p.Ile213LeufsTer19
|
|
|
XM_011542796.1:c.525_526del
|
XP_011541098.1:p.Ile176LeufsTer19
|
|
|
NM_000190.4:c.690_691del
MANE Select
|
NP_000181.2:p.Ile231LeufsTer19
|
|
|
NM_001024382.2:c.639_640del
|
NP_001019553.1:p.Ile214LeufsTer19
|
|
|
XM_005271533.3:c.636_637del
|
XP_005271590.1:p.Ile213LeufsTer19
|
|
|
XM_017017629.1:c.639_640del
|
XP_016873118.1:p.Ile214LeufsTer19
|
|
|
XM_024448460.1:c.597+279_597+280del
|
XP_024304228.1:n.597+279_597+280del
|
|
|
NM_001258208.2:c.651+279_651+280del
|
NP_001245137.1:n.651+279_651+280del
|
|
|
NM_001258209.2:c.600+279_600+280del
|
NP_001245138.1:n.600+279_600+280del
|
|
