Papers
RefSeq ID
Protein change
DNA change
1–12 of 135 variants
NM_015401.5
p.R166H
c.497G>A
NM_015401.5
p.N252S
c.755A>G
NM_015401.5
p.A513G
c.1538C>G
NM_015401.5
p.G471V
c.1412G>T
NM_015401.5
p.R597Q
c.1790G>A
NM_015401.5
p.M1V
c.1A>G
NM_015401.5
p.P13L
c.38C>T
NM_015401.5
p.A15V
c.44C>T
NM_015401.5
p.H16delFs
c.46delG
NM_015401.5
p.P28delFs
c.84delG
NM_015401.5
p.P37L
c.110C>T
NM_015401.5
p.M40T
c.119T>C