Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_004711.5
p.P202_T203ins1
c.606_607insAAC
NM_004711.5
p.K99E
c.295A>G
NM_004711.5
p.V121L
c.361G>C
NM_004711.5
p.V121L
c.361G>T
NM_004711.5
p.A5insFs
c.14_15insC
NM_004711.5
p.A5insFs
c.14_15ins4
NM_004711.5
p.F15F
c.45C>T
NM_004711.5
p.Y18Y
c.54C>T
NM_004711.5
p.P24P
c.72G>A
NM_004711.5
p.T26A
c.76A>G
NM_004711.5
p.L28M
c.82C>A
NM_145738.3
p.E5insFs
c.14_15insC