Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_001005851.3
p.G425A
c.1274G>C
NM_001005851.3
p.H3_G4Splc
c.10-2A>G
NM_001005851.3
p.D78N
c.232G>A
NM_001005851.3
p.R576Q
c.1727G>A
NM_001005851.3
p.V54M
c.160G>A
NM_001005851.3
p.E61G
c.182A>G
NM_001005851.3
p.R127T
c.380G>C
NM_001005851.3
p.Y146C
c.437A>G
NM_001005851.3
p.T209I
c.626C>T
NM_001005851.3
p.H215Y
c.643C>T
NM_001005851.3
p.H215D
c.643C>G
NM_001005851.3
p.A229G
c.686C>G