Papers
RefSeq ID
Protein change
DNA change
1–12 of 133 variants
NM_003462.5
p.M1insFs
c.2_3insT
NM_003462.5
p.A65V
c.194C>T
NM_003462.5
p.I253L
c.757A>C
NM_003462.5
p.I2F
c.4A>T
NM_003462.5
p.P35S
c.103C>T
NM_003462.5
p.R116S
c.348G>C
NM_003462.5
p.E138K
c.412G>A
NM_003462.5
p.N142K
c.426C>G
NM_003462.5
p.A173S
c.517G>T
NM_003462.5
p.R241*
c.721C>T
NM_003462.5
p.M1V
c.1A>G
NM_003462.5
p.M1T
c.2T>C