Papers
RefSeq ID
Protein change
DNA change
1–12 of 117 variants
NM_006055.3
p.A396A
c.1188A>C
NM_006055.3
p.L162F
c.484C>T
NM_006055.3
p.R4S
c.12G>C
NM_006055.3
p.G80R
c.238G>A
NM_006055.3
p.T105_F106insFs
c.315_316insA
NM_006055.3
p.Q3H
c.9A>T
NM_006055.3
p.Q3H
c.9A>C
NM_006055.3
p.A24T
c.70G>A
NM_006055.3
p.Y72H
c.214T>C
NM_006055.3
p.R136Splc
c.408-2A>C
NM_006055.3
p.V273V
c.819C>T
NM_006055.3
p.D307N
c.919G>A