Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_001080533.3
p.E180D
c.540A>C
NM_001080533.3
p.E180D
c.540A>T
NM_001080533.3
p.H181P
c.542A>C
NM_001080533.3
p.K7E
c.19A>G
NM_001080533.3
p.K27R
c.80A>G
NM_001080533.3
p.K29K
c.87G>A
NM_001080533.3
p.R175W
c.523C>T
NM_001080533.3
p.D213E
c.639T>A
NM_001080533.3
p.D213E
c.639T>G
NM_001080533.3
p.D234E
c.702C>A
NM_001080533.3
p.D234E
c.702C>G
NM_001080533.3
p.G249R
c.745G>A