Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_014222.3
p.E109K
c.325G>A
NM_014222.3
p.R101S
c.301C>A
NM_014222.3
p.R47C
c.139C>T
NM_014222.3
p.Q95R
c.284A>G
NM_014222.3
p.R98L
c.293G>T
NM_014222.3
p.R135Q
c.404G>A
NM_014222.3
p.D16E
c.48T>G
NM_014222.3
p.D16E
c.48T>A
NM_014222.3
p.A29A
c.87C>T
NM_014222.3
p.C36C
c.108T>C
NM_014222.3
p.E42E
c.126G>A
NM_014222.3
p.M44V
c.130A>G