Papers
RefSeq ID
Protein change
DNA change
1–12 of 57 variants
NM_020999.4
p.R107S
c.319C>A
NM_020999.4
p.R93L
c.278G>T
NM_020999.4
p.L135P
c.404T>C
NM_020999.4
p.G167R
c.499G>A
NM_020999.4
p.F199S
c.596T>C
NM_020999.4
p.G167R
c.499G>C
NM_020999.4
p.E123*
c.367G>T
NM_020999.4
p.Q4*
c.10C>T
NM_020999.4
p.E28*
c.82G>T
NM_020999.4
p.P39delFs
c.117delG
NM_020999.4
p.S83G
c.247A>G
NM_020999.4
p.T40T
c.120T>A