Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_001114394.3
p.D215A
c.644A>C
NM_001114394.3
p.R9H
c.26G>A
NM_001114394.3
p.C225insFs
c.675dupT
NM_001114394.3
p.Q17*
c.49C>T
NM_001114394.3
p.T57I
c.170C>T
NM_001114394.3
p.N83delFs
c.248delA
NM_001114394.3
p.N83fs
c.247_248fs
NM_001114394.3
p.S116A
c.346T>G
NM_001114394.3
p.L120L
c.358T>C
NM_001114394.3
p.H122Y
c.364C>T
NM_001114394.3
p.P127S
c.379C>T
NM_001114394.3
p.R137P
c.410G>C