|
ENST00000642322.2:c.1200del
|
ENSP00000496052.2:p.Phe401LeufsTer8
|
|
|
ENST00000399959.7:c.1065del
|
ENSP00000382840.3:p.Phe356LeufsTer8
|
|
|
ENST00000441189.4:c.969del
|
ENSP00000414281.3:p.Phe324LeufsTer8
|
|
|
ENST00000457138.7:c.1020del
|
ENSP00000392494.2:p.Phe341LeufsTer8
|
|
|
ENST00000629496.3:c.1068del
|
ENSP00000487224.1:p.Phe357LeufsTer8
|
|
|
ENST00000642161.1:n.3267del
|
|
|
|
ENST00000642322.1:c.510del
|
ENSP00000496052.1:p.Phe171LeufsTer8
|
|
|
ENST00000642424.1:c.510del
|
ENSP00000496356.1:p.Phe171LeufsTer8
|
|
|
ENST00000642589.1:n.4390del
|
|
|
|
ENST00000642597.1:n.1242del
|
|
|
|
ENST00000642687.1:n.1101del
|
|
|
|
ENST00000642722.1:n.1901del
|
|
|
|
ENST00000642763.1:n.1959del
|
|
|
|
ENST00000642793.1:c.*517del
|
ENSP00000493976.1:n.*517del
|
|
|
ENST00000642801.1:n.717del
|
|
|
|
ENST00000643820.1:n.344del
|
|
|
|
ENST00000643963.1:c.*350del
|
ENSP00000495264.1:n.*350del
|
|
|
ENST00000644073.1:c.1026del
|
ENSP00000493475.1:p.Phe343LeufsTer8
|
|
|
ENST00000644074.1:c.1065del
|
ENSP00000496663.1:p.Phe356LeufsTer8
|
|
|
ENST00000644109.1:c.1230del
|
ENSP00000494952.1:p.Phe411LeufsTer8
|
|
|
ENST00000644307.1:n.1159del
|
|
|
|
ENST00000644513.1:c.1068del
|
ENSP00000493819.1:p.Phe357LeufsTer8
|
|
|
ENST00000644677.1:c.951del
|
ENSP00000496524.1:p.Phe318LeufsTer8
|
|
|
ENST00000644876.2:c.1068del
MANE Select
|
ENSP00000494040.1:p.Phe357LeufsTer8
|
|
|
ENST00000644958.1:n.2729del
|
|
|
|
ENST00000645080.1:c.*2290del
|
ENSP00000494767.1:n.*2290del
|
|
|
ENST00000645120.1:n.2563del
|
|
|
|
ENST00000645338.1:n.1159del
|
|
|
|
ENST00000645380.1:n.2453del
|
|
|
|
ENST00000645561.1:n.2244del
|
|
|
|
ENST00000645574.1:n.3932del
|
|
|
|
ENST00000645589.1:c.1068del
|
ENSP00000494588.1:p.Phe357LeufsTer8
|
|
|
ENST00000646093.1:n.252del
|
|
|
|
ENST00000646107.1:c.951del
|
ENSP00000494518.1:p.Phe318LeufsTer8
|
|
|
ENST00000646122.1:c.1068del
|
ENSP00000496222.1:p.Phe357LeufsTer8
|
|
|
ENST00000646196.1:n.2037del
|
|
|
|
ENST00000646223.1:c.*1061del
|
ENSP00000496043.1:n.*1061del
|
|
|
ENST00000646319.1:c.1068del
|
ENSP00000495377.1:p.Phe357LeufsTer8
|
|
|
ENST00000646390.1:n.3356del
|
|
|
|
ENST00000646627.1:c.510del
|
ENSP00000493795.1:p.Phe171LeufsTer8
|
|
|
ENST00000646679.1:c.510del
|
ENSP00000494887.1:p.Phe171LeufsTer8
|
|
|
ENST00000646822.1:n.2130del
|
|
|
|
ENST00000646940.1:n.1242del
|
|
|
|
ENST00000647286.1:n.1166del
|
|
|
|
ENST00000399959.6:c.1068del
|
ENSP00000382840.2:p.Phe357LeufsTer8
|
|
|
ENST00000441189.3:c.341-2418del
|
ENSP00000414281.2:n.341-2418del
|
|
|
ENST00000457138.6:c.1020del
|
ENSP00000392494.2:p.Phe341LeufsTer8
|
|
|
ENST00000478993.5:c.1068del
|
ENSP00000478443.1:p.Phe357LeufsTer8
|
|
|
ENST00000542215.5:n.1116del
|
|
|
|
ENST00000625837.2:c.1068del
|
ENSP00000486306.1:p.Phe357LeufsTer8
|
|
|
ENST00000626301.2:c.1068del
|
ENSP00000486443.1:p.Phe357LeufsTer8
|
|
|
ENST00000629496.2:c.1068del
|
ENSP00000487224.1:p.Phe357LeufsTer8
|
|
|
ENST00000629785.2:c.1068del
|
ENSP00000486516.1:p.Phe357LeufsTer8
|
|
|
ENST00000630255.2:c.1068del
|
ENSP00000486720.1:p.Phe357LeufsTer8
|
|
|
ENST00000630370.2:c.1068del
|
ENSP00000487062.1:p.Phe357LeufsTer8
|
|
|
ENST00000630858.2:c.1068del
|
ENSP00000486514.1:p.Phe357LeufsTer8
|
|
|
NM_001193416.2:c.1068del
|
NP_001180345.1:p.Phe357LeufsTer8
|
|
|
NM_001193417.2:c.1020del
|
NP_001180346.1:p.Phe341LeufsTer8
|
|
|
NM_001356.4:c.1068del
|
NP_001347.3:p.Phe357LeufsTer8
|
|
|
NR_126093.1:n.2013del
|
|
|
|
XM_011543892.1:c.1068del
|
XP_011542194.1:p.Phe357LeufsTer8
|
|
|
NM_001363819.1:c.510del
|
NP_001350748.1:p.Phe171LeufsTer8
|
|
|
XM_011543892.2:c.1068del
|
XP_011542194.1:p.Phe357LeufsTer8
|
|
|
XM_017029313.1:c.510del
|
XP_016884802.1:p.Phe171LeufsTer8
|
|
|
NM_001193416.3:c.1068del
|
NP_001180345.1:p.Phe357LeufsTer8
|
|
|
NM_001193417.3:c.1020del
|
NP_001180346.1:p.Phe341LeufsTer8
|
|
|
NM_001356.5:c.1068del
MANE Select
|
NP_001347.3:p.Phe357LeufsTer8
|
|
