Papers
RefSeq ID
Protein change
DNA change
1–12 of 192 variants
NM_001034.4
p.N345K
c.1035C>A
NM_001034.4
p.N345K
c.1035C>G
NM_001034.4
p.W116C
c.348G>C
NM_001034.4
p.E98E
c.294G>A
NM_001034.4
p.N352S
c.1055A>G
NM_001034.4
p.S20T
c.58T>A
NM_001034.4
p.T33A
c.97A>G
NM_001034.4
p.N76T
c.227A>C
NM_001034.4
p.K120N
c.360A>T
NM_001034.4
p.I127M
c.381A>G
NM_001034.4
p.F149L
c.445T>C
NM_001034.4
p.F149L
c.447T>A