Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_018718.3
p.P206A
c.616C>G
NM_018718.3
p.R360C
c.1078C>T
NM_018718.3
p.E11_Y12Splc
c.33+2T>G
NM_018718.3
p.M36T
c.107T>C
NM_018718.3
p.C240G
c.718T>G
NM_018718.3
p.R242H
c.725G>A
NM_018718.3
p.S2F
c.5C>T
NM_018718.3
p.Q89E
c.265C>G
NM_018718.3
p.D93Splc
c.278-1G>A
NM_018718.3
p.S141Splc
c.423-2A>C
NM_018718.3
p.R179H
c.536G>A
NM_018718.3
p.I222V
c.664A>G