Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_001134658.3
p.K181E
c.541A>G
NM_001134658.3
p.S209P
c.625T>C
NM_001134658.3
p.G213E
c.638G>A
NM_001134658.3
p.M1T
c.2T>C
NM_001134658.3
p.R2P
c.5G>C
NM_001134658.3
p.R2L
c.5G>T
NM_001134658.3
p.P3P
c.9T>G
NM_001134658.3
p.Q4E
c.10C>G
NM_001134658.3
p.T7insFs
c.20_21insTG
NM_001134658.3
p.E11Q
c.31G>C
NM_001134658.3
p.E14K
c.40G>A
NM_001134658.3
p.E14*
c.40G>T