Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_174976.2
p.P12fs
c.34_35fs
NM_174976.2
p.D37E
c.111C>A
NM_174976.2
p.C79S
c.235T>A
NM_174976.2
p.C97fs
c.289_290fs
NM_174976.2
p.G144G
c.432C>T
NM_174976.2
p.V145V
c.435G>A
NM_174976.2
p.G176Splc
c.526+3G>A
NM_174976.2
p.A198D
c.593C>A
NM_174976.2
p.L209F
c.627G>T
NM_174976.2
p.L209F
c.627G>C
NM_174976.2
p.Q235E
c.703C>G
NM_174976.2
p.L247L
c.739C>T