Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
NM_194286.4
p.S243N
c.728G>A
NM_194286.4
p.P47L
c.140C>T
NM_194286.4
p.R191W
c.571C>T
NM_194286.4
p.R223H
c.668G>A
NM_194286.4
p.R406*
c.1216C>T
NM_194286.4
p.R547S
c.1639C>A
NM_194286.4
p.S3N
c.8G>A
NM_194286.4
p.E13Q
c.37G>C
NM_194286.4
p.K40N
c.120G>C
NM_194286.4
p.P43A
c.127C>G
NM_194286.4
p.R44Splc
c.132-13685T>C
NM_194286.4
p.V52F
c.154G>T