Papers
RefSeq ID
Protein change
DNA change
1–12 of 190 variants
NM_001039.4
p.N530S
c.1589A>G
NM_001039.4
p.G183S
c.547G>A
NM_001039.4
p.E197K
c.589G>A
NM_001039.4
p.W573*
c.1718G>A
NM_001039.4
p.K106Splc
c.318-1G>A
NM_001039.4
p.V543delFs
c.1627delG
NM_001039.4
p.Q567*
c.1699C>T
NM_001039.4
p.E571*
c.1711G>T
NM_001039.4
p.R586fs
c.1756_1757fs
NM_001039.4
p.Y129Y
c.387T>C
NM_001039.4
p.I158I
c.474T>C
NM_001039.4
p.T259N
c.776C>A