Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_006500.3
p.E89G
c.266A>G
NM_006500.3
p.S198L
c.593C>T
NM_006500.3
p.R267H
c.800G>A
NM_006500.3
p.A14T
c.40G>A
NM_006500.3
p.C17_C18del1
c.51_53delCAG
NM_006500.3
p.C18del1
c.52_53delACA
NM_006500.3
p.R20C
c.58C>T
NM_006500.3
p.L35P
c.104T>C
NM_006500.3
p.S42G
c.124A>G
NM_006500.3
p.L45delFs
c.133delG
NM_006500.3
p.S51_S53del3
c.151_158del9
NM_006500.3
p.R75C
c.223C>T