Papers
RefSeq ID
Protein change
DNA change
1–12 of 94 variants
NM_003602.5
p.F72L
c.216C>A
NM_003602.5
p.R196_A197Splc
c.589-2A>G
NM_003602.5
p.G37G
c.111C>T
NM_003602.5
p.A52A
c.156G>T
NM_003602.5
p.F72L
c.214T>C
NM_003602.5
p.F72L
c.216C>G
NM_003602.5
p.V170_F177insFs
c.508_529dup22
NM_003602.5
p.R183C
c.547C>T
NM_003602.5
p.R234*
c.700C>T
NM_003602.5
p.R278*
c.832C>T
NM_003602.5
p.Q19_S20Splc
c.58-2A>G
NM_003602.5
p.L25fs
c.73_74fs