Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_001017405.3
p.R34C
c.100C>T
NM_001017405.3
p.C314S
c.940T>A
NM_001017405.3
p.C314S
c.941G>C
NM_001017405.3
p.M396R
c.1187T>G
NM_001017405.3
p.M12V
c.34A>G
NM_001017405.3
p.L22F
c.64C>T
NM_001017405.3
p.K23_V24Splc
c.70-112T>G
NM_001017405.3
p.T28M
c.83C>T
NM_001017405.3
p.D65N
c.193G>A
NM_001017405.3
p.A85A
c.255G>A
NM_001017405.3
p.R124H
c.371G>A
NM_001017405.3
p.M125V
c.373A>G