Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_001989.5
p.A82V
c.245C>T
NM_001989.5
p.G14D
c.41G>A
NM_001989.5
p.G32R
c.94G>C
NM_001989.5
p.K41delFs
c.121delA
NM_001989.5
p.K41fs
c.121_122fs
NM_001989.5
p.S49R
c.145A>C
NM_001989.5
p.S49R
c.147C>A
NM_001989.5
p.S49R
c.147C>G
NM_001989.5
p.P54ins1
c.161_162insCGG
NM_001989.5
p.E59D
c.177G>C
NM_001989.5
p.E59D
c.177G>T
NM_001989.5
p.P96fs
c.286_287fs