Papers
RefSeq ID
Protein change
DNA change
1–12 of 112 variants
NM_001400.5
p.R13G
c.37C>G
NM_001400.5
p.I70S
c.209T>G
NM_001400.5
p.R120P
c.359G>C
NM_001400.5
p.A11D
c.32C>A
NM_001400.5
p.G122_S123insFs
c.366_367insG
NM_001400.5
p.F125S
c.374T>C
NM_001400.5
p.Y198C
c.593A>G
NM_001400.5
p.R238C
c.712C>T
NM_001400.5
p.S251L
c.752C>T
NM_001400.5
p.V264I
c.790G>A
NM_001400.5
p.R342*
c.1024C>T
NM_001400.5
p.G347S
c.1039G>A