Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_016361.5
p.R218W
c.652C>T
NM_016361.5
p.N311S
c.932A>G
NM_016361.5
p.H413H
c.1239C>T
NM_016361.5
p.L20_A21ins1
c.60_61insAGC
NM_016361.5
p.A21S
c.61G>T
NM_016361.5
p.Q26*
c.76C>T
NM_016361.5
p.G60_A61insAGC
c.178_182ins9
NM_016361.5
p.R62W
c.184C>T
NM_016361.5
p.P64A
c.190C>G
NM_016361.5
p.Q79delFs
c.235delG
NM_016361.5
p.Q79fs
c.235_236fs
NM_016361.5
p.L96P
c.287T>C