Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_006040.3
p.R332*
c.994C>T
NM_006040.3
p.R332Q
c.995G>A
NM_006040.3
p.T416P
c.1246A>C
NM_006040.3
p.P8H
c.23C>A
NM_006040.3
p.P69S
c.205C>T
NM_006040.3
p.P77L
c.230C>T
NM_006040.3
p.P100L
c.299C>T
NM_006040.3
p.E110*
c.328G>T
NM_006040.3
p.P112P
c.336C>T
NM_006040.3
p.E116del1
c.346_347delGAG
NM_006040.3
p.Q136R
c.407A>G
NM_006040.3
p.L156L
c.466C>T