Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_198992.4
p.E332K
c.994G>A
NM_198992.4
p.D7fs
c.19_20fs
NM_198992.4
p.D7delFs
c.19delC
NM_198992.4
p.L12V
c.34C>G
NM_198992.4
p.E22Q
c.64G>C
NM_198992.4
p.S44N
c.131G>A
NM_198992.4
p.D51N
c.151G>A
NM_198992.4
p.A58A
c.174T>A
NM_198992.4
p.G65E
c.194G>A
NM_198992.4
p.V75F
c.223G>T
NM_198992.4
p.S91F
c.272C>T
NM_198992.4
p.T95T
c.285G>C