|
ENST00000556892.6:c.248G>T
|
ENSP00000452206.2:p.Arg83Leu
|
|
|
ENST00000556979.6:c.*920G>T
|
ENSP00000452378.1:n.*920G>T
|
|
|
ENST00000358664.9:c.467G>T
MANE Select
|
ENSP00000351490.4:p.Arg156Leu
|
|
|
ENST00000651648.1:c.145-6123G>T
|
ENSP00000498863.1:n.145-6123G>T
|
|
|
ENST00000284165.10:c.*1311G>T
|
ENSP00000284165.6:n.*1311G>T
|
|
|
ENST00000341653.6:c.171+17216G>T
|
ENSP00000342482.2:n.171+17216G>T
|
|
|
ENST00000358402.8:c.440G>T
|
ENSP00000351175.4:p.Arg147Leu
|
|
|
ENST00000358664.8:c.467G>T
|
ENSP00000351490.4:p.Arg156Leu
|
|
|
ENST00000394606.6:c.*240G>T
|
ENSP00000378104.2:n.*240G>T
|
|
|
ENST00000553928.5:c.*256G>T
|
ENSP00000451907.1:n.*256G>T
|
|
|
ENST00000555419.5:c.359G>T
|
ENSP00000452405.1:p.Arg120Leu
|
|
|
ENST00000555932.5:c.208G>T
|
ENSP00000450763.1:p.Gly70Ter
|
|
|
ENST00000557277.5:c.278G>T
|
ENSP00000450955.1:p.Arg93Leu
|
|
|
ENST00000618858.4:c.*256G>T
|
ENSP00000480127.1:n.*256G>T
|
|
|
NM_001271069.1:c.144+17216G>T
|
NP_001257998.1:n.144+17216G>T
|
|
|
NM_002382.4:c.467G>T
|
NP_002373.3:p.Arg156Leu
|
|
|
NM_145112.2:c.440G>T
|
NP_660087.1:p.Arg147Leu
|
|
|
NM_145113.2:c.*256G>T
|
NP_660088.1:n.*256G>T
|
|
|
NM_197957.3:c.171+17216G>T
|
NP_932061.1:n.171+17216G>T
|
|
|
NR_073137.1:n.591G>T
|
|
|
|
XR_429315.2:n.754G>T
|
|
|
|
NM_001320415.1:c.278G>T
|
NP_001307344.1:p.Arg93Leu
|
|
|
XM_017021312.2:c.278G>T
|
XP_016876801.1:p.Arg93Leu
|
|
|
XM_017021313.1:c.278G>T
|
XP_016876802.1:p.Arg93Leu
|
|
|
XR_001750326.2:n.812G>T
|
|
|
|
XR_001750327.2:n.731G>T
|
|
|
|
XR_002957553.1:n.1245G>T
|
|
|
|
XR_943450.3:n.835G>T
|
|
|
|
XR_943451.3:n.851G>T
|
|
|
|
XR_943452.3:n.796G>T
|
|
|
|
NM_001320415.2:c.278G>T
|
NP_001307344.1:p.Arg93Leu
|
|
|
NM_002382.5:c.467G>T
MANE Select
|
NP_002373.3:p.Arg156Leu
|
|
|
NM_145112.3:c.440G>T
|
NP_660087.1:p.Arg147Leu
|
|
|
NM_145113.3:c.*256G>T
|
NP_660088.1:n.*256G>T
|
|
|
NM_001271069.2:c.144+17216G>T
|
NP_001257998.1:n.144+17216G>T
|
|
|
NM_197957.4:c.171+17216G>T
|
NP_932061.1:n.171+17216G>T
|
|
