Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
NM_006122.4
p.H65Q
c.195T>A
NM_006122.4
p.H65Q
c.195T>G
NM_006122.4
p.Q412R
c.1235A>G
NM_006122.4
p.V1101delFs
c.3301delG
NM_006122.4
p.D254D
c.762T>C
NM_006122.4
p.R560Q
c.1679G>A
NM_006122.4
p.V995M
c.2983G>A
NM_006122.4
p.S1069L
c.3206C>T
NM_006122.4
p.Q1098*
c.3292C>T
NM_006122.4
p.K2E
c.4A>G
NM_006122.4
p.V9M
c.25G>A
NM_006122.4
p.V9A
c.26T>C