Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_001010919.3
p.G80R
c.238G>C
NM_001010919.3
p.E293K
c.877G>A
NM_001010919.3
p.G80R
c.238G>A
NM_001010919.3
p.Q175_V176Splc
c.525+2T>G
NM_001010919.3
p.V7V
c.21G>A
NM_001010919.3
p.K13E
c.37A>G
NM_001010919.3
p.A28V
c.83C>T
NM_001010919.3
p.I33delFs
c.99delC
NM_001010919.3
p.F34fs
c.100_101fs
NM_001010919.3
p.A36D
c.107C>A
NM_001010919.3
p.F39L
c.115T>C
NM_001010919.3
p.F39L
c.117C>A