|
ENST00000354071.8:n.1044_1045del
|
|
|
|
ENST00000461574.2:c.980_981del
|
ENSP00000417241.2:p.Thr327MetfsTer2
|
|
|
ENST00000470026.6:c.980_981del
|
ENSP00000419274.2:p.Thr327MetfsTer2
|
|
|
ENST00000473961.6:c.854_855del
|
ENSP00000420201.2:p.Thr285MetfsTer2
|
|
|
ENST00000476777.6:c.977_978del
|
ENSP00000417554.2:p.Thr326MetfsTer2
|
|
|
ENST00000477152.6:c.902_903del
|
ENSP00000419988.2:p.Thr301MetfsTer2
|
|
|
ENST00000478531.6:c.784+193_784+194del
|
ENSP00000420412.2:n.784+193_784+194del
|
|
|
ENST00000489037.2:c.902_903del
|
ENSP00000420781.2:p.Thr301MetfsTer2
|
|
|
ENST00000493919.6:c.646+193_646+194del
|
ENSP00000418819.2:n.646+193_646+194del
|
|
|
ENST00000494123.6:c.980_981del
|
ENSP00000419103.2:p.Thr327MetfsTer2
|
|
|
ENST00000497488.2:c.92_93del
|
ENSP00000418986.2:p.Thr31MetfsTer2
|
|
|
ENST00000618469.2:c.980_981del
|
ENSP00000478114.2:p.Thr327MetfsTer2
|
|
|
ENST00000634433.2:c.857_858del
|
ENSP00000489431.2:p.Thr286MetfsTer2
|
|
|
ENST00000644379.2:c.980_981del
|
ENSP00000496570.2:p.Thr327MetfsTer2
|
|
|
ENST00000644555.2:c.646+193_646+194del
|
ENSP00000494614.2:n.646+193_646+194del
|
|
|
ENST00000652672.2:c.839_840del
|
ENSP00000498906.2:p.Thr280MetfsTer2
|
|
|
ENST00000484087.6:c.664+193_664+194del
|
ENSP00000419481.2:n.664+193_664+194del
|
|
|
ENST00000700182.1:c.706+193_706+194del
|
ENSP00000514849.1:n.706+193_706+194del
|
|
|
ENST00000700183.1:c.*988_*989del
|
ENSP00000514850.1:n.*988_*989del
|
|
|
ENST00000357654.9:c.980_981del
MANE Select
|
ENSP00000350283.3:p.Thr327MetfsTer2
|
|
|
ENST00000471181.7:c.980_981del
|
ENSP00000418960.2:p.Thr327MetfsTer2
|
|
|
ENST00000642945.1:c.*854_*855del
|
ENSP00000495897.1:n.*854_*855del
|
|
|
ENST00000652672.1:c.839_840del
|
ENSP00000498906.1:p.Thr280MetfsTer2
|
|
|
ENST00000352993.7:c.670+1295_670+1296del
|
ENSP00000312236.5:n.670+1295_670+1296del
|
|
|
ENST00000354071.7:c.980_981del
|
ENSP00000326002.7:p.Thr327MetfsTer2
|
|
|
ENST00000357654.7:c.980_981del
|
ENSP00000350283.3:p.Thr327MetfsTer2
|
|
|
ENST00000412061.3:c.331_332del
|
|
|
|
ENST00000461221.5:c.*763_*764del
|
ENSP00000418548.1:n.*763_*764del
|
|
|
ENST00000468300.5:c.787+193_787+194del
|
ENSP00000417148.1:n.787+193_787+194del
|
|
|
ENST00000470026.5:c.980_981del
|
ENSP00000419274.1:p.Thr327MetfsTer2
|
|
|
ENST00000471181.6:c.980_981del
|
ENSP00000418960.2:p.Thr327MetfsTer2
|
|
|
ENST00000473961.5:c.577_578del
|
|
|
|
ENST00000477152.5:c.902_903del
|
ENSP00000419988.1:p.Thr301MetfsTer2
|
|
|
ENST00000478531.5:c.784+193_784+194del
|
ENSP00000420412.1:n.784+193_784+194del
|
|
|
ENST00000484087.5:c.409+193_409+194del
|
ENSP00000419481.1:n.409+193_409+194del
|
|
|
ENST00000487825.5:c.412+193_412+194del
|
ENSP00000418212.1:n.412+193_412+194del
|
|
|
ENST00000491747.6:c.787+193_787+194del
|
ENSP00000420705.2:n.787+193_787+194del
|
|
|
ENST00000492859.5:c.*916_*917del
|
ENSP00000420253.1:n.*916_*917del
|
|
|
ENST00000493795.5:c.839_840del
|
ENSP00000418775.1:p.Thr280MetfsTer2
|
|
|
ENST00000493919.5:c.646+193_646+194del
|
ENSP00000418819.1:n.646+193_646+194del
|
|
|
ENST00000494123.5:c.980_981del
|
ENSP00000419103.1:p.Thr327MetfsTer2
|
|
|
ENST00000497488.1:c.92_93del
|
ENSP00000418986.1:p.Thr31MetfsTer2
|
|
|
ENST00000586385.5:c.5-30600_5-30599del
|
ENSP00000465818.1:n.5-30600_5-30599del
|
|
|
ENST00000591534.5:c.-43-20030_-43-20029del
|
ENSP00000467329.1:n.-43-20030_-43-20029del
|
|
|
ENST00000591849.5:c.-99+30720_-99+30721del
|
ENSP00000465347.1:n.-99+30720_-99+30721del
|
|
|
ENST00000634433.1:c.857_858del
|
ENSP00000489431.1:p.Thr286MetfsTer2
|
|
|
NM_007294.3:c.980_981del , LRG_292t1:c.980_981del
|
NP_009225.1:p.Thr327MetfsTer2
|
|
|
NM_007297.3:c.839_840del
|
NP_009228.2:p.Thr280MetfsTer2
|
|
|
NM_007298.3:c.787+193_787+194del
|
NP_009229.2:n.787+193_787+194del
|
|
|
NM_007299.3:c.787+193_787+194del
|
NP_009230.2:n.787+193_787+194del
|
|
|
NM_007300.3:c.980_981del
|
NP_009231.2:p.Thr327MetfsTer2
|
|
|
NR_027676.1:n.1116_1117del
|
|
|
|
NM_007294.4:c.980_981del
MANE Select
|
NP_009225.1:p.Thr327MetfsTer2
|
|
|
NM_007297.4:c.839_840del
|
NP_009228.2:p.Thr280MetfsTer2
|
|
|
NM_007299.4:c.787+193_787+194del
|
NP_009230.2:n.787+193_787+194del
|
|
|
NM_007300.4:c.980_981del
|
NP_009231.2:p.Thr327MetfsTer2
|
|
|
NR_027676.2:n.1157_1158del
|
|
|
