Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_017879.3
p.V5L
c.13G>C
NM_017879.3
p.S38F
c.113C>T
NM_017879.3
p.R54H
c.161G>A
NM_017879.3
p.V56M
c.166G>A
NM_017879.3
p.V83fs
c.247_248fs
NM_017879.3
p.S99F
c.296C>T
NM_017879.3
p.K102N
c.306G>T
NM_017879.3
p.K102N
c.306G>C
NM_017879.3
p.Q125H
c.375G>T
NM_017879.3
p.Q125H
c.375G>C
NM_017879.3
p.C133R
c.397T>C
NM_017879.3
p.E150*
c.448G>T