Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
NM_144698.5
p.P428S
c.1282C>T
NM_144698.5
p.C194R
c.580T>C
NM_144698.5
p.R338*
c.1012C>T
NM_144698.5
p.Q592R
c.1775A>G
NM_144698.5
p.R154C
c.460C>T
NM_144698.5
p.R504*
c.1510C>T
NM_144698.5
p.A160T
c.478G>A
NM_144698.5
p.R244W
c.730C>T
NM_144698.5
p.E266D
c.798G>T
NM_144698.5
p.E266D
c.798G>C
NM_144698.5
p.Q661E
c.1981C>G
NM_144698.5
p.I4insFs
c.11dupT