Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_001394.7
p.C280S
c.838T>A
NM_001394.7
p.C280S
c.839G>C
NM_001394.7
p.M4I
c.12G>A
NM_001394.7
p.E5Q
c.13G>C
NM_001394.7
p.D49V
c.146A>T
NM_001394.7
p.R300W
c.898C>T
NM_001394.7
p.M1I
c.3G>T
NM_001394.7
p.M1I
c.3G>C
NM_001394.7
p.M1I
c.3G>A
NM_001394.7
p.V2fs
c.4_5fs
NM_001394.7
p.T3A
c.7A>G
NM_001394.7
p.M4I
c.12G>C