Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
NM_006217.6
p.E148G
c.443A>G
NM_006217.6
p.L6V
c.16T>G
NM_006217.6
p.M1_D2insFs
c.3_4insT
NM_006217.6
p.W7G
c.19T>G
NM_006217.6
p.W7C
c.21G>T
NM_006217.6
p.W7C
c.21G>C
NM_006217.6
p.F13L
c.39T>A
NM_006217.6
p.Q17K
c.49C>A
NM_006217.6
p.S81*
c.242C>G
NM_006217.6
p.G83Splc
c.248-1G>T
NM_006217.6
p.E84D
c.252A>T
NM_006217.6
p.F92Y
c.275T>A