Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_175854.8
p.A440S
c.1318G>T
NM_175854.8
p.G4_S11delFs
c.10_32del23
NM_175854.8
p.G4fs
c.10_11fs
NM_175854.8
p.P16P
c.48T>C
NM_175854.8
p.V27_A41del0
c.81_122del42
NM_175854.8
p.A29delFs
c.85delG
NM_175854.8
p.A29fs
c.85_86fs
NM_175854.8
p.A91S
c.271G>T
NM_175854.8
p.P100T
c.298C>A
NM_175854.8
p.A128T
c.382G>A
NM_175854.8
p.G130R
c.388G>A
NM_175854.8
p.G130R
c.388G>C