Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_001271893.4
p.E75K
c.223G>A
NM_001271893.4
p.Q119*
c.355C>T
NM_001271893.4
p.E75Q
c.223G>C
NM_001271893.4
p.Q65*
c.193C>T
NM_001271893.4
p.E75A
c.224A>C
NM_001271893.4
p.P56delFs
c.168delC
NM_001271893.4
p.R31delFs
c.91delC
NM_001271893.4
p.L109P
c.326T>C
NM_001271893.4
p.R31fs
c.91_92fs
NM_001271893.4
p.S57fs
c.169_170fs
NM_001271893.4
p.Q77_R78ins0
c.229_234dup6
NM_001271893.4
p.M1I
c.3G>T