Papers
RefSeq ID
Protein change
DNA change
NM_001354980.2
p.E33*
c.97G>T
NM_001354980.2
p.R76H
c.227G>A
NM_001354980.2
p.G204D
c.611G>A
NM_001354980.2
p.A428A
c.1284C>T
NM_001354980.2
p.D491D
c.1473T>C
NM_001354980.2
p.P528T
c.1582C>A
NM_001354980.2
p.E542K
c.1624G>A
NM_001354980.2
p.E544K
c.1630G>A
NM_001354980.2
p.P576fs
c.1726_1727fs
NM_001354980.2
p.P576delFs
c.1727delG