Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
NM_017612.5
p.P186L
c.557C>T
NM_017612.5
p.L90*
c.269T>G
NM_017612.5
p.L90*
c.269T>A
NM_017612.5
p.E196K
c.586G>A
NM_017612.5
p.M663V
c.1987A>G
NM_017612.5
p.E20K
c.58G>A
NM_017612.5
p.E113K
c.337G>A
NM_017612.5
p.P410A
c.1228C>G
NM_017612.5
p.P548S
c.1642C>T
NM_017612.5
p.G551D
c.1652G>A
NM_017612.5
p.A47P
c.139G>C
NM_017612.5
p.A65G
c.194C>G