Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_017918.5
p.I63N
c.188T>A
NM_017918.5
p.Y253F
c.758A>T
NM_017918.5
p.P17L
c.50C>T
NM_017918.5
p.P32P
c.96C>A
NM_017918.5
p.V37delFs
c.110delT
NM_017918.5
p.H50N
c.148C>A
NM_017918.5
p.S52T
c.155G>C
NM_017918.5
p.P69S
c.205C>T
NM_017918.5
p.P88L
c.263C>T
NM_017918.5
p.D99N
c.295G>A
NM_017918.5
p.D99A
c.296A>C
NM_017918.5
p.E103A
c.308A>C