|
ENST00000686218.1:c.426_442del
|
ENSP00000509288.1:p.Trp143AlafsTer6
|
|
|
ENST00000686690.1:n.1441_1457del
|
|
|
|
ENST00000691144.1:n.2332_2348del
|
|
|
|
ENST00000691249.1:n.1175_1191del
|
|
|
|
ENST00000442944.7:c.573_589del
|
ENSP00000392041.3:p.Trp192AlafsTer6
|
|
|
ENST00000534956.2:n.448-356_448-340del
|
|
|
|
ENST00000536813.6:c.540_556del
|
ENSP00000438726.2:p.Trp181AlafsTer6
|
|
|
ENST00000546302.6:c.513_529del
|
ENSP00000445599.1:p.Trp172AlafsTer6
|
|
|
ENST00000640813.1:c.448-356_448-340del
|
ENSP00000491061.1:n.448-356_448-340del
|
|
|
ENST00000648026.1:c.493-356_493-340del
|
ENSP00000498044.1:n.493-356_493-340del
|
|
|
ENST00000648374.1:c.540_556del
|
ENSP00000497255.1:p.Trp181AlafsTer6
|
|
|
ENST00000648488.1:c.*85+249_*85+265del
|
ENSP00000498079.1:n.*85+249_*85+265del
|
|
|
ENST00000649823.1:n.808_824del
|
|
|
|
ENST00000649868.1:c.*207-356_*207-340del
|
ENSP00000497548.1:n.*207-356_*207-340del
|
|
|
ENST00000650101.1:c.522_538del
|
ENSP00000496970.1:p.Trp175AlafsTer6
|
|
|
ENST00000650307.1:n.1417_1433del
|
|
|
|
ENST00000652429.1:c.591_607del
MANE Select
|
ENSP00000498786.1:p.Trp198AlafsTer6
|
|
|
ENST00000278715.7:c.591_607del
|
ENSP00000278715.3:p.Trp198AlafsTer6
|
|
|
ENST00000392841.1:c.540_556del
|
ENSP00000376584.1:p.Trp181AlafsTer6
|
|
|
ENST00000442944.6:c.540_556del
|
ENSP00000392041.2:p.Trp181AlafsTer6
|
|
|
ENST00000534956.1:n.415-356_415-340del
|
|
|
|
ENST00000535253.5:c.540_556del
|
ENSP00000442079.1:p.Trp181AlafsTer?
|
|
|
ENST00000535793.5:c.*486_*502del
|
ENSP00000439904.1:n.*486_*502del
|
|
|
ENST00000537841.5:c.540_556del
|
ENSP00000444730.1:p.Trp181AlafsTer6
|
|
|
ENST00000539986.5:c.540_556del
|
ENSP00000440092.1:p.Trp181AlafsTer?
|
|
|
ENST00000542044.5:n.1036_1052del
|
|
|
|
ENST00000542345.5:n.729_745del
|
|
|
|
ENST00000542729.5:c.540_556del
|
ENSP00000443058.1:p.Trp181AlafsTer6
|
|
|
ENST00000542822.5:c.*527_*543del
|
ENSP00000444817.1:n.*527_*543del
|
|
|
ENST00000543090.5:c.537_553del
|
ENSP00000445429.1:p.Trp180AlafsTer?
|
|
|
ENST00000543543.5:n.826_842del
|
|
|
|
ENST00000544360.5:n.559_575del
|
|
|
|
ENST00000544387.5:c.591_607del
|
ENSP00000438424.1:p.Trp198AlafsTer6
|
|
|
ENST00000545621.5:c.*486_*502del
|
ENSP00000444849.1:n.*486_*502del
|
|
|
ENST00000546226.5:n.879_895del
|
|
|
|
ENST00000546302.5:c.513_529del
|
ENSP00000445599.1:p.Trp172AlafsTer6
|
|
|
NM_000190.3:c.591_607del
|
NP_000181.2:p.Trp198AlafsTer6
|
|
|
NM_001024382.1:c.540_556del
|
NP_001019553.1:p.Trp181AlafsTer6
|
|
|
NM_001258208.1:c.591_607del
|
NP_001245137.1:p.Trp198AlafsTer6
|
|
|
NM_001258209.1:c.540_556del
|
NP_001245138.1:p.Trp181AlafsTer6
|
|
|
XM_005271531.1:c.540_556del
|
XP_005271588.1:p.Trp181AlafsTer6
|
|
|
XM_005271532.1:c.540_556del
|
XP_005271589.1:p.Trp181AlafsTer6
|
|
|
XM_005271533.2:c.537_553del
|
XP_005271590.1:p.Trp180AlafsTer6
|
|
|
XM_011542796.1:c.426_442del
|
XP_011541098.1:p.Trp143AlafsTer6
|
|
|
NM_000190.4:c.591_607del
MANE Select
|
NP_000181.2:p.Trp198AlafsTer6
|
|
|
NM_001024382.2:c.540_556del
|
NP_001019553.1:p.Trp181AlafsTer6
|
|
|
XM_005271533.3:c.537_553del
|
XP_005271590.1:p.Trp180AlafsTer6
|
|
|
XM_017017629.1:c.540_556del
|
XP_016873118.1:p.Trp181AlafsTer6
|
|
|
XM_024448460.1:c.537_553del
|
XP_024304228.1:p.Trp180AlafsTer6
|
|
|
NM_001258208.2:c.591_607del
|
NP_001245137.1:p.Trp198AlafsTer6
|
|
|
NM_001258209.2:c.540_556del
|
NP_001245138.1:p.Trp181AlafsTer6
|
|
