ENST00000356592.8:c.1426G>C
|
|
|
ENST00000361925.9:c.1521G>C
|
ENSP00000354651.5:p.Leu507=
|
|
ENST00000523372.2:c.1484G>C
|
|
|
ENST00000638253.1:n.679G>C
|
|
|
ENST00000638552.1:c.1116G>C
|
ENSP00000491763.1:p.Leu372=
|
|
ENST00000638660.1:c.1140G>C
|
ENSP00000492869.1:p.Leu380=
|
|
ENST00000638772.1:c.*4022G>C
|
ENSP00000491557.1:n.*4022G>C
|
|
ENST00000638877.1:c.1302G>C
|
|
|
ENST00000639046.1:c.792G>C
|
ENSP00000492659.1:p.Leu264=
|
|
ENST00000639111.2:c.1401G>C
|
ENSP00000492125.2:p.Leu467=
|
|
ENST00000639213.2:c.1425G>C
MANE Select
|
ENSP00000491909.2:p.Leu475=
|
|
ENST00000639278.1:c.2088G>C
|
ENSP00000491958.1:n.2088G>C
|
|
ENST00000639384.1:c.*1606G>C
|
ENSP00000491240.1:n.*1606G>C
|
|
ENST00000639424.1:c.*625G>C
|
ENSP00000491245.1:n.*625G>C
|
|
ENST00000639683.1:c.1359G>C
|
ENSP00000492581.1:p.Leu453=
|
|
ENST00000639975.1:c.1335G>C
|
ENSP00000492096.1:p.Leu445=
|
|
ENST00000640500.1:n.699G>C
|
|
|
ENST00000640739.1:n.6372G>C
|
|
|
ENST00000640910.1:c.863G>C
|
|
|
ENST00000640985.1:c.1338G>C
|
ENSP00000492293.1:p.Leu446=
|
|
ENST00000641017.1:c.1494G>C
|
ENSP00000493461.1:p.Leu498=
|
|
ENST00000356592.7:c.1425G>C
|
ENSP00000349000.3:p.Leu475=
|
|
ENST00000361925.8:c.1401G>C
|
ENSP00000354651.4:p.Leu467=
|
|
ENST00000414552.6:c.1545G>C
|
ENSP00000410732.2:p.Leu515=
|
|
ENST00000522990.5:c.*1003G>C
|
ENSP00000430732.1:n.*1003G>C
|
|
ENST00000523372.1:c.1522G>C
|
ENSP00000430124.1:n.1522G>C
|
|
NM_000816.3:c.1401G>C
|
NP_000807.2:p.Leu467=
|
|
NM_198903.2:c.1545G>C
|
NP_944493.2:p.Leu515=
|
|
NM_198904.2:c.1425G>C
|
NP_944494.1:p.Leu475=
|
|
NM_001375339.1:c.1416G>C
|
NP_001362268.1:p.Leu472=
|
|
NM_001375340.1:c.*259G>C
|
NP_001362269.1:n.*259G>C
|
|
NM_001375341.1:c.1422G>C
|
NP_001362270.1:p.Leu474=
|
|
NM_001375342.1:c.1398G>C
|
NP_001362271.1:p.Leu466=
|
|
NM_001375343.1:c.1521G>C
|
NP_001362272.1:p.Leu507=
|
|
NM_001375344.1:c.1464G>C
|
NP_001362273.1:p.Leu488=
|
|
NM_001375345.1:c.1335G>C
|
NP_001362274.1:p.Leu445=
|
|
NM_001375346.1:c.1359G>C
|
NP_001362275.1:p.Leu453=
|
|
NM_001375347.1:c.1338G>C
|
NP_001362276.1:p.Leu446=
|
|
NM_001375348.1:c.981G>C
|
NP_001362277.1:p.Leu327=
|
|
NM_001375349.1:c.1116G>C
|
NP_001362278.1:p.Leu372=
|
|
NM_001375350.1:c.1005G>C
|
NP_001362279.1:p.Leu335=
|
|
NM_198904.3:c.1425G>C
|
NP_944494.1:p.Leu475=
|
|
NM_198904.4:c.1425G>C
MANE Select
|
NP_944494.1:p.Leu475=
|
|