Papers
RefSeq ID
Protein change
DNA change
1–12 of 206 variants
NM_000107.3
p.R273H
c.818G>A
NM_000107.3
p.K244E
c.730A>G
NM_000107.3
p.L350P
c.1049T>C
NM_000107.3
p.D307Y
c.919G>T
NM_000107.3
p.R313*
c.937C>T
NM_000107.3
p.R192*
c.574C>T
NM_000107.3
p.T338I
c.1013C>T
NM_000107.3
p.K244*
c.730A>T
NM_000107.3
p.W54*
c.161G>A
NM_000107.3
p.W54*
c.162G>A
NM_000107.3
p.W236fs
c.706_707fs
NM_000107.3
p.K244_V245delFs
c.730_733del4