Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_001040177.3
p.Q194_I195Splc
c.582+1G>A
NM_001040177.3
p.R301*
c.901C>T
NM_001040177.3
p.D35N
c.103G>A
NM_001040177.3
p.K86R
c.257A>G
NM_001040177.3
p.R255*
c.763C>T
NM_001040177.3
p.H174Y
c.520C>T
NM_001040177.3
p.L186W
c.557T>G
NM_001040177.3
p.M1K
c.2T>A
NM_001040177.3
p.M1I
c.3G>A
NM_001040177.3
p.M1I
c.3G>C
NM_001040177.3
p.M1I
c.3G>T
NM_001040177.3
p.L9H
c.26T>A