Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_032439.4
p.R119H
c.356G>A
NM_032439.4
p.V3M
c.7G>A
NM_032439.4
p.R5C
c.13C>T
NM_032439.4
p.G36Splc
c.107-27001C>T
NM_032439.4
p.G36Splc
c.107-7093G>A
NM_032439.4
p.N60I
c.179A>T
NM_032439.4
p.E71D
c.213A>C
NM_032439.4
p.E71D
c.213A>T
NM_032439.4
p.H100N
c.298C>A
NM_032439.4
p.D102N
c.304G>A
NM_032439.4
p.P104S
c.310C>T
NM_032439.4
p.H165L
c.494A>T