Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_152547.5
p.L208delFs
c.622delC
NM_152547.5
p.R218*
c.652C>T
NM_152547.5
p.G511R
c.1531G>C
NM_152547.5
p.E33K
c.97G>A
NM_152547.5
p.S155*
c.464C>A
NM_152547.5
p.S155*
c.464C>G
NM_152547.5
p.D207fs
c.619_620fs
NM_152547.5
p.L208fs
c.622_623fs
NM_152547.5
p.Y326N
c.976T>A
NM_152547.5
p.D529D
c.1587C>T
NM_152547.5
p.L4F
c.10C>T
NM_152547.5
p.S7F
c.20C>T