Papers
RefSeq ID
Protein change
DNA change
1–12 of 374 variants
NM_001621.5
p.R554K
c.1661G>A
NM_001621.5
p.V570I
c.1708G>A
NM_001621.5
p.G304E
c.911G>A
NM_001621.5
p.P517S
c.1549C>T
NM_001621.5
p.R16Q
c.47G>A
NM_001621.5
p.P275_S276insFs
c.825_826insA
NM_001621.5
p.Q383H
c.1149G>C
NM_001621.5
p.Q383H
c.1149G>T
NM_001621.5
p.P55T
c.163C>A
NM_001621.5
p.V74I
c.220G>A
NM_001621.5
p.Q120_A121Splc
c.361-1G>A
NM_001621.5
p.P271S
c.811C>T