Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
NM_003707.3
p.D302N
c.904G>A
NM_003707.3
p.R205K
c.614G>A
NM_003707.3
p.R276*
c.826C>T
NM_003707.3
p.A164T
c.490G>A
NM_003707.3
p.K171_L172Splc
c.513+1G>A
NM_003707.3
p.E212*
c.634G>T
NM_003707.3
p.R276_G277delFs
c.828_831del4
NM_003707.3
p.V283V
c.849G>A
NM_003707.3
p.A292T
c.874G>A
NM_003707.3
p.E303Q
c.907G>C
NM_003707.3
p.L365Q
c.1094T>A
NM_003707.3
p.K11E
c.31A>G