Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_033267.5
p.E255D
c.765G>T
NM_033267.5
p.E255D
c.765G>C
NM_033267.5
p.A196D
c.587C>A
NM_033267.5
p.S26del1
c.76_78delCGA
NM_033267.5
p.S39L
c.116C>T
NM_033267.5
p.P49Q
c.146C>A
NM_033267.5
p.D71N
c.211G>A
NM_033267.5
p.D71E
c.213C>G
NM_033267.5
p.D71E
c.213C>A
NM_033267.5
p.A73V
c.218C>T
NM_033267.5
p.A73D
c.218C>A
NM_033267.5
p.A76_G78del3
c.226_233del9