Papers
RefSeq ID
Protein change
DNA change
1–12 of 126 variants
NM_003394.4
p.R332W
c.994C>T
NM_003394.4
p.W262*
c.785G>A
NM_003394.4
p.W262*
c.786G>A
NM_003394.4
p.C256Y
c.767G>A
NM_003394.4
p.T329R
c.986C>G
NM_003394.4
p.I285T
c.854T>C
NM_003394.4
p.K389_*390delFs
c.1165_1168del4
NM_003394.4
p.E153_Q154insFs
c.458_461dup4
NM_003394.4
p.N29K
c.87T>G
NM_003394.4
p.N29K
c.87T>A
NM_003394.4
p.R211Q
c.632G>A
NM_003394.4
p.R351H
c.1052G>A