Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_001145474.4
p.D104E
c.312T>A
NM_001145474.4
p.D104E
c.312T>G
NM_001145474.4
p.R44W
c.130C>T
NM_001145474.4
p.A199V
c.596C>T
NM_001145474.4
p.Y67*
c.201C>A
NM_001145474.4
p.Y67*
c.201C>G
NM_001145474.4
p.S143F
c.428C>T
NM_001145474.4
p.P178S
c.532C>T
NM_001145474.4
p.S204T
c.610T>A
NM_001145474.4
p.T29I
c.86C>T
NM_001145474.4
p.H37Y
c.109C>T
NM_001145474.4
p.K40delFs
c.118delA