Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_014394.3
p.A3A
c.9T>G
NM_014394.3
p.R10fs
c.28_29fs
NM_014394.3
p.A20G
c.59C>G
NM_014394.3
p.S31S
c.93C>T
NM_014394.3
p.R43G
c.127A>G
NM_014394.3
p.E72D
c.216A>C
NM_014394.3
p.E72D
c.216A>T
NM_014394.3
p.I77T
c.230T>C
NM_014394.3
p.I77T
c.230T>C
NM_014394.3
p.A89G
c.266C>G
NM_014394.3
p.I110T
c.329T>C
NM_014394.3
p.W116C
c.348G>C