Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_019028.3
p.R425*
c.1273A>T
NM_019028.3
p.K99R
c.296A>G
NM_019028.3
p.L203*
c.608T>A
NM_019028.3
p.L203*
c.608T>G
NM_019028.3
p.L493F
c.1479G>C
NM_019028.3
p.L493F
c.1479G>T
NM_019028.3
p.H30Y
c.88C>T
NM_019028.3
p.A36V
c.107C>T
NM_019028.3
p.A36A
c.108C>G
NM_019028.3
p.V54V
c.162C>G
NM_019028.3
p.C65F
c.194G>T
NM_019028.3
p.P78R
c.233C>G