Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_003762.5
p.S42P
c.124T>C
NM_003762.5
p.R140H
c.419G>A
NM_003762.5
p.R7H
c.20G>A
NM_003762.5
p.E76K
c.226G>A
NM_003762.5
p.G16A
c.47G>C
NM_003762.5
p.G16D
c.47G>A
NM_003762.5
p.E21A
c.62A>C
NM_003762.5
p.S30A
c.88T>G
NM_003762.5
p.L38Splc
c.113+1G>A
NM_003762.5
p.L38Splc
c.114-15T>G
NM_003762.5
p.G40G
c.120A>T
NM_003762.5
p.K54M
c.161A>T