Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_024645.3
p.R29H
c.86G>A
NM_024645.3
p.T201A
c.601A>G
NM_024645.3
p.V42D
c.125T>A
NM_024645.3
p.L106F
c.318G>T
NM_024645.3
p.L106F
c.318G>C
NM_024645.3
p.G108R
c.322G>C
NM_024645.3
p.G108R
c.322G>A
NM_024645.3
p.A117Splc
c.349+9412T>C
NM_024645.3
p.A117Splc
c.350-2A>T
NM_024645.3
p.R127Q
c.380G>A
NM_024645.3
p.Y146*
c.438C>A
NM_024645.3
p.W153C
c.459G>T