Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_144963.4
p.R72*
c.214C>T
NM_144963.4
p.A379T
c.1135G>A
NM_144963.4
p.C800Y
c.2399G>A
NM_144963.4
p.N267H
c.799A>C
NM_144963.4
p.H615R
c.1844A>G
NM_144963.4
p.Q24_S25Splc
c.72+177C>A
NM_144963.4
p.Q24_S25Splc
c.73-14G>T
NM_144963.4
p.S25N
c.74G>A
NM_144963.4
p.N28K
c.84T>A
NM_144963.4
p.N28K
c.84T>G
NM_144963.4
p.S29L
c.86C>T
NM_144963.4
p.Y33*
c.99T>A