Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_001040441.3
p.A140T
c.418G>A
NM_001040441.3
p.H9N
c.25C>A
NM_001040441.3
p.Y48*
c.144C>A
NM_001040441.3
p.Y48*
c.144C>G
NM_001040441.3
p.P196L
c.587C>T
NM_001040441.3
p.D427Y
c.1279G>T
NM_001040441.3
p.Q12*
c.34C>T
NM_001040441.3
p.A37E
c.110C>A
NM_001040441.3
p.S46S
c.138C>T
NM_001040441.3
p.M51R
c.152T>G
NM_001040441.3
p.S54F
c.161C>T
NM_001040441.3
p.P63T
c.187C>A