Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_032930.3
p.R121*
c.361C>T
NM_032930.3
p.F66_F67Fs
c.198_200delinsCCFs
NM_032930.3
p.F67fs
c.199_200fs
NM_032930.3
p.Q52*
c.154C>T
NM_032930.3
p.H259R
c.776A>G
NM_032930.3
p.R33_Q36del0
c.98_106del9
NM_032930.3
p.A98_L106del9
c.292_317del27
NM_032930.3
p.D118G
c.353A>G
NM_032930.3
p.R145*
c.433A>T
NM_032930.3
p.F67delFs
c.200delT
NM_032930.3
p.F67S
c.200T>C
NM_032930.3
p.M1insFs
c.2dupT