Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_006029.5
p.L5insFs
c.14dupT
NM_006029.5
p.A210T
c.628G>A
NM_006029.5
p.Q293K
c.877C>A
NM_006029.5
p.T4S
c.10A>T
NM_006029.5
p.Q18L
c.53A>T
NM_006029.5
p.W24L
c.71G>T
NM_006029.5
p.E34K
c.100G>A
NM_006029.5
p.L65S
c.194T>C
NM_006029.5
p.R79G
c.235A>G
NM_006029.5
p.P82L
c.245C>T
NM_006029.5
p.G86V
c.257G>T
NM_006029.5
p.P95L
c.284C>T