Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_012269.3
p.D145G
c.434A>G
NM_012269.3
p.A346S
c.1036G>T
NM_012269.3
p.L378I
c.1132C>A
NM_012269.3
p.L400V
c.1198T>G
NM_012269.3
p.S434F
c.1301C>T
NM_012269.3
p.G454S
c.1360G>A
NM_012269.3
p.L4F
c.12A>C
NM_012269.3
p.L4F
c.12A>T
NM_012269.3
p.F27insFs
c.81dupT
NM_012269.3
p.R39*
c.115C>T
NM_012269.3
p.R39Q
c.116G>A
NM_012269.3
p.L79V
c.235C>G