Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_002144.4
p.R207C
c.619C>T
NM_002144.4
p.Y22*
c.66C>G
NM_002144.4
p.Y22*
c.66C>A
NM_002144.4
p.P28ins3
c.82_83ins9
NM_002144.4
p.R207H
c.620G>A
NM_002144.4
p.Y22H
c.64T>C
NM_002144.4
p.S82_G83ins9
c.244_248ins27
NM_002144.4
p.Y99fs
c.295_296fs
NM_002144.4
p.R230W
c.688C>T
NM_002144.4
p.H25_P28ins1
c.74_82dup9
NM_002144.4
p.P77P
c.231C>T
NM_002144.4
p.Y99_L101delFs
c.296_302del7