Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
NM_005649.3
p.R424*
c.1270C>T
NM_005649.3
p.I152delFs
c.454delT
NM_005649.3
p.I152fs
c.454_455fs
NM_005649.3
p.R157K
c.470G>A
NM_005649.3
p.G500E
c.1499G>A
NM_005649.3
p.G4delins
c.11delinsA
NM_005649.3
p.R25Q
c.74G>A
NM_005649.3
p.R40Q
c.119G>A
NM_005649.3
p.R36_M43insFs
c.107_128dup22
NM_005649.3
p.V51I
c.151G>A
NM_005649.3
p.G54V
c.161G>T
NM_005649.3
p.Q68H
c.204A>T