Papers
RefSeq ID
Protein change
DNA change
1–12 of 481 variants
NM_001139.3
p.Y521C
c.1562A>G
NM_001139.3
p.R432*
c.1294C>T
NM_001139.3
p.V527M
c.1579G>A
NM_001139.3
p.P127S
c.379C>T
NM_001139.3
p.R488H
c.1463G>A
NM_001139.3
p.A597E
c.1790C>A
NM_001139.3
p.R386C
c.1156C>T
NM_001139.3
p.R548W
c.1642C>T
NM_001139.3
p.S16L
c.47C>T
NM_001139.3
p.R469W
c.1405C>T
NM_001139.3
p.P422L
c.1265C>T
NM_001139.3
p.Y424_K425insFs
c.1272_1273insC