Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_016589.4
p.G199Splc
c.597-1340A>G
NM_016589.4
p.G199_T200ins5
c.595_599ins15
NM_016589.4
p.N76D
c.226A>G
NM_016589.4
p.R225*
c.673C>T
NM_016589.4
p.I77T
c.230T>C
NM_016589.4
p.R129*
c.385C>T
NM_016589.4
p.V217I
c.649G>A
NM_016589.4
p.D283delFs
c.847delG
NM_016589.4
p.D283fs
c.847_848fs
NM_016589.4
p.M1V
c.1A>G
NM_016589.4
p.C17delFs
c.51delC
NM_016589.4
p.F19C
c.56T>G