Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_005004.4
p.P76Q
c.227C>A
NM_005004.4
p.C144W
c.432C>G
NM_005004.4
p.E63delFs
c.189delT
NM_005004.4
p.Y62H
c.184T>C
NM_005004.4
p.E63fs
c.187_188fs
NM_005004.4
p.V156_G157Splc
c.469-1G>A
NM_005004.4
p.M1I
c.3G>A
NM_005004.4
p.G10G
c.30A>G
NM_005004.4
p.A29V
c.86C>T
NM_005004.4
p.A29A
c.87C>T
NM_005004.4
p.E63E
c.189A>G
NM_005004.4
p.E63fs
c.187_188fs