Papers
RefSeq ID
Protein change
DNA change
1–12 of 201 variants
NM_004174.4
p.C799R
c.2395T>C
NM_004174.4
p.V90M
c.268G>A
NM_004174.4
p.A127T
c.379G>A
NM_004174.4
p.A269T
c.805G>A
NM_004174.4
p.A311Splc
c.932+1G>A
NM_004174.4
p.R382Q
c.1145G>A
NM_004174.4
p.G496R
c.1486G>C
NM_004174.4
p.G496R
c.1486G>A
NM_004174.4
p.V567M
c.1699G>A
NM_004174.4
p.L125P
c.374T>C
NM_004174.4
p.F137F
c.411C>T
NM_004174.4
p.G138S
c.412G>A