Papers
RefSeq ID
Protein change
DNA change
1–12 of 101 variants
NM_007117.5
p.L8V
c.22C>G
NM_007117.5
p.P239S
c.715C>T
NM_007117.5
p.G3D
c.8G>A
NM_007117.5
p.R218S
c.654G>C
NM_007117.5
p.R218S
c.654G>T
NM_007117.5
p.M1V
c.1A>G
NM_007117.5
p.E32K
c.94G>A
NM_007117.5
p.Q73*
c.217C>T
NM_007117.5
p.R83H
c.248G>A
NM_007117.5
p.R119*
c.355C>T
NM_007117.5
p.W125delFs
c.373delT
NM_007117.5
p.W125R
c.373T>A