Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_003846.3
p.Q22*
c.64C>T
NM_003846.3
p.R46*
c.136C>T
NM_003846.3
p.R199*
c.595C>T
NM_003846.3
p.R93*
c.277C>T
NM_003846.3
p.Y140*
c.420T>G
NM_003846.3
p.Y140*
c.420T>A
NM_003846.3
p.V5I
c.13G>A
NM_003846.3
p.A21P
c.61G>C
NM_003846.3
p.R93G
c.277C>G
NM_003846.3
p.R137H
c.410G>A
NM_003846.3
p.L248Fs
c.743_744delinsAFs
NM_003846.3
p.M1R
c.2T>G