Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_004228.7
p.E156K
c.466G>A
NM_004228.7
p.E117K
c.349G>A
NM_004228.7
p.E156D
c.468G>C
NM_004228.7
p.E156D
c.468G>T
NM_004228.7
p.L30P
c.89T>C
NM_004228.7
p.R37L
c.110G>T
NM_004228.7
p.E54D
c.162G>C
NM_004228.7
p.T58A
c.172A>G
NM_004228.7
p.T58I
c.173C>T
NM_004228.7
p.E85del1
c.253_255delGAG
NM_004228.7
p.P154P
c.462C>G
NM_004228.7
p.E156insFs
c.467_468insT