Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
NM_032152.5
p.K57Q
c.169A>C
NM_032152.5
p.S387P
c.1159T>C
NM_032152.5
p.D503E
c.1509T>G
NM_032152.5
p.D503E
c.1509T>A
NM_032152.5
p.M1V
c.1A>G
NM_032152.5
p.P73Q
c.218C>A
NM_032152.5
p.E75Q
c.223G>C
NM_032152.5
p.V76F
c.226G>T
NM_032152.5
p.V76_D78delFs
c.226_233del8
NM_032152.5
p.P80_E87delFs
c.238_259del22
NM_032152.5
p.V88F
c.262G>T
NM_032152.5
p.E301K
c.901G>A