Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
NM_002518.4
p.T394A
c.1180A>G
NM_002518.4
p.S471L
c.1412C>T
NM_002518.4
p.F132I
c.394T>A
NM_002518.4
p.Q136R
c.407A>G
NM_002518.4
p.P455A
c.1363C>G
NM_002518.4
p.S409L
c.1226C>T
NM_002518.4
p.Y705Y
c.2115C>T
NM_002518.4
p.T710T
c.2130C>T
NM_002518.4
p.S724S
c.2172C>T
NM_002518.4
p.P822L
c.2465C>T
NM_002518.4
p.R11Splc
c.32+41C>T
NM_002518.4
p.R14Q
c.41G>A