Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
NM_001040446.3
p.W211*
c.633G>A
NM_001040446.3
p.D206N
c.616G>A
NM_001040446.3
p.W211*
c.632G>A
NM_001040446.3
p.C236S
c.706T>A
NM_001040446.3
p.D287H
c.859G>C
NM_001040446.3
p.L591L
c.1771C>T
NM_001040446.3
p.V7G
c.20T>G
NM_001040446.3
p.A15A
c.45C>A
NM_001040446.3
p.P26S
c.76C>T
NM_001040446.3
p.E35K
c.103G>A
NM_001040446.3
p.E38Q
c.112G>C
NM_001040446.3
p.P47fs
c.139_140fs