Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_001080825.2
p.D92N
c.274G>A
NM_001080825.2
p.Q20P
c.59A>C
NM_001080825.2
p.R66H
c.197G>A
NM_001080825.2
p.V195I
c.583G>A
NM_001080825.2
p.W12*
c.35G>A
NM_001080825.2
p.W12*
c.36G>A
NM_001080825.2
p.H26H
c.78C>T
NM_001080825.2
p.Y29Y
c.87C>T
NM_001080825.2
p.L39fs
c.115_116fs
NM_001080825.2
p.H53Q
c.159C>A
NM_001080825.2
p.H53Q
c.159C>G
NM_001080825.2
p.R66_A68delFs
c.196_202del7