Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_001114759.3
p.D48G
c.143A>G
NM_001114759.3
p.H53R
c.158A>G
NM_001114759.3
p.R288L
c.863G>T
NM_001114759.3
p.E242_W250del0
c.726_749del24
NM_001114759.3
p.E473K
c.1417G>A
NM_001114759.3
p.A7V
c.20C>T
NM_001114759.3
p.P15L
c.44C>T
NM_001114759.3
p.R35*
c.103C>T
NM_001114759.3
p.G36R
c.106G>C
NM_001114759.3
p.A42D
c.125C>A
NM_001114759.3
p.P47fs
c.139_140fs
NM_001114759.3
p.D48E
c.144C>G