Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_001080478.3
p.R185W
c.553C>T
NM_001080478.3
p.A272T
c.814G>A
NM_001080478.3
p.E274Q
c.820G>C
NM_001080478.3
p.M1K
c.2T>A
NM_001080478.3
p.M4I
c.12G>A
NM_001080478.3
p.M4I
c.12G>C
NM_001080478.3
p.M4I
c.12G>T
NM_001080478.3
p.V21V
c.63G>C
NM_001080478.3
p.R23fs
c.67_68fs
NM_001080478.3
p.Y42F
c.125A>T
NM_001080478.3
p.R104C
c.310C>T
NM_001080478.3
p.R116*
c.346C>T