Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
NM_004278.4
p.L167P
c.500T>C
NM_004278.4
p.Q218*
c.652C>T
NM_004278.4
p.L92delFs
c.274delC
NM_004278.4
p.L92fs
c.274_275fs
NM_004278.4
p.L142_V143Splc
c.427-1G>A
NM_004278.4
p.W20*
c.60G>A
NM_004278.4
p.R88C
c.262C>T
NM_004278.4
p.R234H
c.701G>A
NM_004278.4
p.A12_W16delFs
c.36_48del13
NM_004278.4
p.W16*
c.47G>A
NM_004278.4
p.W16*
c.48G>A
NM_004278.4
p.W20*
c.59G>A