Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_033550.4
p.G42D
c.125G>A
NM_033550.4
p.T81R
c.242C>G
NM_033550.4
p.A43V
c.128C>T
NM_033550.4
p.R55G
c.163C>G
NM_033550.4
p.K60fs
c.178_179fs
NM_033550.4
p.K65M
c.194A>T
NM_033550.4
p.T129A
c.385A>G
NM_033550.4
p.R243L
c.728G>T
NM_033550.4
p.R5_A6insFs
c.15_16dupAG
NM_033550.4
p.L36P
c.107T>C
NM_033550.4
p.R62H
c.185G>A
NM_033550.4
p.K65R
c.194A>G