Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_000783.4
p.G438G
c.1314C>G
NM_000783.4
p.L149L
c.447C>T
NM_000783.4
p.W167*
c.500G>A
NM_000783.4
p.W167*
c.501G>A
NM_000783.4
p.R173S
c.517C>A
NM_000783.4
p.F186L
c.556T>C
NM_000783.4
p.F186L
c.558C>A
NM_000783.4
p.F186L
c.558C>G
NM_000783.4
p.R219H
c.656G>A
NM_000783.4
p.C358R
c.1072T>C
NM_000783.4
p.M1K
c.2T>A
NM_000783.4
p.F14V
c.40T>G