Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_032423.3
p.R428*
c.1282C>T
NM_032423.3
p.R127delFs
c.381delG
NM_032423.3
p.I129fs
c.385_386fs
NM_032423.3
p.R365H
c.1094G>A
NM_032423.3
p.R428Q
c.1283G>A
NM_032423.3
p.L38M
c.112T>A
NM_032423.3
p.T57N
c.170C>A
NM_032423.3
p.A76E
c.227C>A
NM_032423.3
p.E126D
c.378A>C
NM_032423.3
p.E126D
c.378A>T
NM_032423.3
p.I129fs
c.385_386fs
NM_032423.3
p.S200G
c.598A>G