Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_018061.4
p.Q24*
c.70C>T
NM_018061.4
p.G33del1
c.97_98delGGC
NM_018061.4
p.K42R
c.125A>G
NM_018061.4
p.P98_E100del3
c.292_299del9
NM_018061.4
p.I149V
c.445A>G
NM_018061.4
p.P155R
c.464C>G
NM_018061.4
p.G161E
c.482G>A
NM_018061.4
p.R166Splc
c.498-27T>C
NM_018061.4
p.R205Q
c.614G>A
NM_018061.4
p.T209I
c.626C>T
NM_018061.4
p.K242N
c.726A>C
NM_018061.4
p.K242N
c.726A>T