|
ENST00000354071.8:n.2320_2325delinsAAGTGG
|
|
|
|
ENST00000461574.2:c.2256_2261delinsAAGTGG
|
ENSP00000417241.2:p.Leu752=
|
|
|
ENST00000470026.6:c.2256_2261delinsAAGTGG
|
ENSP00000419274.2:p.Leu752=
|
|
|
ENST00000473961.6:c.2130_2135delinsAAGTGG
|
ENSP00000420201.2:p.Leu710=
|
|
|
ENST00000476777.6:c.2253_2258delinsAAGTGG
|
ENSP00000417554.2:p.Leu751=
|
|
|
ENST00000477152.6:c.2178_2183delinsAAGTGG
|
ENSP00000419988.2:p.Leu726=
|
|
|
ENST00000478531.6:c.784+1469_784+1474delinsAAGTGG
|
ENSP00000420412.2:n.784+1469_784+1474delinsAAGTGG
|
|
|
ENST00000489037.2:c.2178_2183delinsAAGTGG
|
ENSP00000420781.2:p.Leu726=
|
|
|
ENST00000493919.6:c.646+1469_646+1474delinsAAGTGG
|
ENSP00000418819.2:n.646+1469_646+1474delinsAAGTGG
|
|
|
ENST00000494123.6:c.2256_2261delinsAAGTGG
|
ENSP00000419103.2:p.Leu752=
|
|
|
ENST00000497488.2:c.1368_1373delinsAAGTGG
|
ENSP00000418986.2:p.Leu456=
|
|
|
ENST00000618469.2:c.2256_2261delinsAAGTGG
|
ENSP00000478114.2:p.Leu752=
|
|
|
ENST00000634433.2:c.2133_2138delinsAAGTGG
|
ENSP00000489431.2:p.Leu711=
|
|
|
ENST00000644379.2:c.2256_2261delinsAAGTGG
|
ENSP00000496570.2:p.Leu752=
|
|
|
ENST00000644555.2:c.646+1469_646+1474delinsAAGTGG
|
ENSP00000494614.2:n.646+1469_646+1474delinsAAGTGG
|
|
|
ENST00000652672.2:c.2115_2120delinsAAGTGG
|
ENSP00000498906.2:p.Leu705=
|
|
|
ENST00000484087.6:c.664+1469_664+1474delinsAAGTGG
|
ENSP00000419481.2:n.664+1469_664+1474delinsAAGTGG
|
|
|
ENST00000700182.1:c.706+1469_706+1474delinsAAGTGG
|
ENSP00000514849.1:n.706+1469_706+1474delinsAAGTGG
|
|
|
ENST00000357654.9:c.2256_2261delinsAAGTGG
MANE Select
|
ENSP00000350283.3:p.Leu752=
|
|
|
ENST00000471181.7:c.2256_2261delinsAAGTGG
|
ENSP00000418960.2:p.Leu752=
|
|
|
ENST00000352993.7:c.671-2243_671-2238delinsAAGTGG
|
ENSP00000312236.5:n.671-2243_671-2238delinsAAGTGG
|
|
|
ENST00000354071.7:c.2256_2261delinsAAGTGG
|
ENSP00000326002.7:p.Leu752=
|
|
|
ENST00000357654.7:c.2256_2261delinsAAGTGG
|
ENSP00000350283.3:p.Leu752=
|
|
|
ENST00000461221.5:c.*2039_*2044delinsAAGTGG
|
ENSP00000418548.1:n.*2039_*2044delinsAAGTGG
|
|
|
ENST00000468300.5:c.787+1469_787+1474delinsAAGTGG
|
ENSP00000417148.1:n.787+1469_787+1474delinsAAGTGG
|
|
|
ENST00000471181.6:c.2256_2261delinsAAGTGG
|
ENSP00000418960.2:p.Leu752=
|
|
|
ENST00000478531.5:c.784+1469_784+1474delinsAAGTGG
|
ENSP00000420412.1:n.784+1469_784+1474delinsAAGTGG
|
|
|
ENST00000484087.5:c.409+1469_409+1474delinsAAGTGG
|
ENSP00000419481.1:n.409+1469_409+1474delinsAAGTGG
|
|
|
ENST00000487825.5:c.412+1469_412+1474delinsAAGTGG
|
ENSP00000418212.1:n.412+1469_412+1474delinsAAGTGG
|
|
|
ENST00000491747.6:c.787+1469_787+1474delinsAAGTGG
|
ENSP00000420705.2:n.787+1469_787+1474delinsAAGTGG
|
|
|
ENST00000493795.5:c.2115_2120delinsAAGTGG
|
ENSP00000418775.1:p.Leu705=
|
|
|
ENST00000493919.5:c.646+1469_646+1474delinsAAGTGG
|
ENSP00000418819.1:n.646+1469_646+1474delinsAAGTGG
|
|
|
ENST00000586385.5:c.5-29324_5-29319delinsAAGTGG
|
ENSP00000465818.1:n.5-29324_5-29319delinsAAGTGG
|
|
|
ENST00000591534.5:c.-43-18754_-43-18749delinsAAGTGG
|
ENSP00000467329.1:n.-43-18754_-43-18749delinsAAGTGG
|
|
|
ENST00000591849.5:c.-99+31996_-99+32001delinsAAGTGG
|
ENSP00000465347.1:n.-99+31996_-99+32001delinsAAGTGG
|
|
|
ENST00000634433.1:c.2133_2138delinsAAGTGG
|
ENSP00000489431.1:p.Leu711=
|
|
|
NM_007294.3:c.2256_2261delinsAAGTGG , LRG_292t1:c.2256_2261delinsAAGTGG
|
NP_009225.1:p.Leu752=
|
|
|
NM_007297.3:c.2115_2120delinsAAGTGG
|
NP_009228.2:p.Leu705=
|
|
|
NM_007298.3:c.787+1469_787+1474delinsAAGTGG
|
NP_009229.2:n.787+1469_787+1474delinsAAGTGG
|
|
|
NM_007299.3:c.787+1469_787+1474delinsAAGTGG
|
NP_009230.2:n.787+1469_787+1474delinsAAGTGG
|
|
|
NM_007300.3:c.2256_2261delinsAAGTGG
|
NP_009231.2:p.Leu752=
|
|
|
NR_027676.1:n.2392_2397delinsAAGTGG
|
|
|
|
NM_007294.4:c.2256_2261delinsAAGTGG
MANE Select
|
NP_009225.1:p.Leu752=
|
|
|
NM_007297.4:c.2115_2120delinsAAGTGG
|
NP_009228.2:p.Leu705=
|
|
|
NM_007299.4:c.787+1469_787+1474delinsAAGTGG
|
NP_009230.2:n.787+1469_787+1474delinsAAGTGG
|
|
|
NM_007300.4:c.2256_2261delinsAAGTGG
|
NP_009231.2:p.Leu752=
|
|
|
NR_027676.2:n.2433_2438delinsAAGTGG
|
|
|
