Papers
RefSeq ID
Protein change
DNA change
NM_052863.3
p.P67delFs
c.201delG
NM_052863.3
p.A18Splc
c.53-189G>A
NM_052863.3
p.A18Splc
c.53-89T>G
NM_052863.3
p.N55K
c.165C>G
NM_052863.3
p.N55K
c.165C>A
NM_052863.3
p.L61L
c.183G>T
NM_052863.3
p.V68fs
c.202_203fs
NM_052863.3
p.V68V
c.204G>A
NM_052863.3
p.G83D
c.248G>A
NM_052863.3
p.L97_G98Splc
c.292-15G>A