Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_012114.3
p.E33K
c.97G>A
NM_012114.3
p.A58A
c.174C>T
NM_012114.3
p.D154_S155delFs
c.462_463delCA
NM_012114.3
p.R179*
c.535C>T
NM_012114.3
p.R225K
c.674G>A
NM_012114.3
p.R5R
c.13C>A
NM_012114.3
p.R5G
c.13C>G
NM_012114.3
p.R18L
c.53G>T
NM_012114.3
p.S32Y
c.95C>A
NM_012114.3
p.D35V
c.104A>T
NM_012114.3
p.D37G
c.110A>G
NM_012114.3
p.A38P
c.112G>C