Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_152723.3
p.C78*
c.234C>A
NM_152723.3
p.E301D
c.903G>T
NM_152723.3
p.E301D
c.903G>C
NM_152723.3
p.E329V
c.986A>T
NM_152723.3
p.L6R
c.17T>G
NM_152723.3
p.R22H
c.65G>A
NM_152723.3
p.E34delFs
c.100delC
NM_152723.3
p.E34fs
c.100_101fs
NM_152723.3
p.R69C
c.205C>T
NM_152723.3
p.R69H
c.206G>A
NM_152723.3
p.I79I
c.237C>T
NM_152723.3
p.L96P
c.287T>C