Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_016475.5
p.A2T
c.4G>A
NM_016475.5
p.G37E
c.110G>A
NM_016475.5
p.L61V
c.181C>G
NM_016475.5
p.G81insFs
c.243dupG
NM_016475.5
p.A94V
c.281C>T
NM_016475.5
p.L115F
c.343C>T
NM_016475.5
p.R121*
c.361C>T
NM_016475.5
p.D127G
c.380A>G
NM_016475.5
p.P135S
c.403C>T
NM_016475.5
p.T146N
c.437C>A
NM_016475.5
p.E148G
c.443A>G
NM_016475.5
p.L153Splc
c.458+1G>C