Papers
RefSeq ID
Protein change
DNA change
1–12 of 246 variants
NM_004176.5
p.P18P
c.54G>C
NM_004176.5
p.R527C
c.1579C>T
NM_004176.5
p.E12delFs
c.36delC
NM_004176.5
p.R812Q
c.2435G>A
NM_004176.5
p.P111L
c.332C>T
NM_001005291.3
p.R557C
c.1669C>T
NM_004176.5
p.P197L
c.590C>T
NM_004176.5
p.T426A
c.1276A>G
NM_004176.5
p.S430A
c.1288T>G
NM_004176.5
p.R527H
c.1580G>A
NM_004176.5
p.L530P
c.1589T>C
NM_004176.5
p.M1insFs
c.2_3ins19