Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_002488.5
p.K45T
c.134A>C
NM_002488.5
p.A70Splc
c.208+5G>A
NM_002488.5
p.N76fs
c.226_227fs
NM_002488.5
p.T75delFs
c.225delC
NM_002488.5
p.D50N
c.148G>A
NM_002488.5
p.M1T
c.2T>C
NM_002488.5
p.M1I
c.3G>A
NM_002488.5
p.E57A
c.170A>C
NM_002488.5
p.K64R
c.191A>G
NM_002488.5
p.A70T
c.208G>A
NM_002488.5
p.V94I
c.280G>A
NM_002488.5
p.M1L
c.1A>T