Papers
RefSeq ID
Protein change
DNA change
1–12 of 588 variants
NM_005378.6
p.P44L
c.131C>T
NM_005378.6
p.T58M
c.173C>T
NM_005378.6
p.P45fs
c.133_134fs
NM_005378.6
p.T58A
c.172A>G
NM_005378.6
p.A184S
c.550G>T
NM_005378.6
p.R373*
c.1117C>T
NM_005378.6
p.R393H
c.1178G>A
NM_005378.6
p.P59L
c.176C>T
NM_005378.6
p.P60L
c.179C>T
NM_005378.6
p.R398W
c.1192C>T
NM_005378.6
p.W77*
c.230G>A
NM_005378.6
p.W77*
c.231G>A