Papers
RefSeq ID
Protein change
DNA change
1–12 of 262 variants
NM_001478.5
p.R300C
c.898C>T
NM_001478.5
p.G88insFs
c.263dupG
NM_001478.5
p.L89fs
c.265_266fs
NM_001478.5
p.Q120*
c.358C>T
NM_001478.5
p.D433A
c.1298A>C
NM_001478.5
p.R505H
c.1514G>A
NM_001478.5
p.R228*
c.682C>T
NM_001478.5
p.K284N
c.852G>T
NM_001478.5
p.K284N
c.852G>C
NM_001478.5
p.D313N
c.937G>A
NM_001478.5
p.F439del1
c.1315_1316delGAA
NM_001478.5
p.A441E
c.1322C>A