Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_173811.4
p.D28H
c.82G>C
NM_173811.4
p.P42T
c.124C>A
NM_173811.4
p.A55V
c.164C>T
NM_173811.4
p.Q62*
c.184C>T
NM_173811.4
p.I151T
c.452T>C
NM_173811.4
p.A160T
c.478G>A
NM_173811.4
p.D181E
c.543C>G
NM_173811.4
p.D181E
c.543C>A
NM_173811.4
p.D199G
c.596A>G
NM_173811.4
p.Y249*
c.747T>G
NM_173811.4
p.Y249*
c.747T>A
NM_173811.4
p.A252V
c.755C>T