Papers
RefSeq ID
Protein change
DNA change
1–12 of 225 variants
NM_052813.5
p.Q295*
c.883C>T
NM_052813.5
p.S12N
c.35G>A
NM_052813.5
p.Q289*
c.865C>T
NM_052813.5
p.R373P
c.1118G>C
NM_052813.5
p.Y91H
c.271T>C
NM_052813.5
p.R70W
c.208C>T
NM_052813.5
p.G72S
c.214G>A
NM_052813.5
p.R101C
c.301C>T
NM_052813.5
p.D274insFs
c.820dupG
NM_052813.5
p.R18W
c.52C>T
NM_052813.5
p.R35Q
c.104G>A
NM_052813.5
p.H478_D479Splc
c.1434+1G>C