Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
NM_006408.4
p.E60A
c.179A>C
NM_006408.4
p.C81S
c.241T>A
NM_006408.4
p.C81S
c.242G>C
NM_006408.4
p.P71T
c.211C>A
NM_006408.4
p.G143E
c.428G>A
NM_006408.4
p.V110_Y111Splc
c.330+1G>T
NM_006408.4
p.H117Y
c.349C>T
NM_006408.4
p.K31R
c.92A>G
NM_006408.4
p.D35delFs
c.104delT
NM_006408.4
p.E96K
c.286G>A
NM_006408.4
p.Q103R
c.308A>G
NM_006408.4
p.L10V
c.28T>G