Papers
RefSeq ID
Protein change
DNA change
1–12 of 250 variants
NM_015865.7
p.D280N
c.838G>A
NM_015865.7
p.E44K
c.130G>A
NM_015865.7
p.S291P
c.871T>C
NM_015865.7
p.R114Splc
c.342-1G>A
NM_015865.7
p.P196P
c.588A>G
NM_015865.7
p.G299E
c.896G>A
NM_015865.7
p.M167V
c.499A>G
NM_015865.7
p.T319M
c.956C>T
NM_015865.7
p.N74K
c.222C>A
NM_015865.7
p.R64Q
c.191G>A
NM_015865.7
p.C157Splc
c.471-1G>A
NM_015865.7
p.Y194*
c.582C>G