Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
NM_013443.5
p.R5R
c.13A>C
NM_013443.5
p.P7insFs
c.21dupC
NM_013443.5
p.S8fs
c.22_23fs
NM_013443.5
p.Q9Splc
c.26+3A>G
NM_013443.5
p.R31G
c.91C>G
NM_013443.5
p.R32W
c.94C>T
NM_013443.5
p.R32Q
c.95G>A
NM_013443.5
p.K39Q
c.115A>C
NM_013443.5
p.P80fs
c.238_239fs
NM_013443.5
p.D90V
c.269A>T
NM_001287000.2
p.T66K
c.197C>A
NM_013443.5
p.Q107H
c.321G>T