Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_023927.4
p.A56V
c.167C>T
NM_023927.4
p.Q6*
c.16C>T
NM_023927.4
p.K39_R43delFs
c.116_128del13
NM_001146319.3
p.W83Splc
c.248+2T>C
NM_023927.4
p.A76T
c.226G>A
NM_023927.4
p.E96V
c.287A>T
NM_023927.4
p.S101T
c.301T>A
NM_023927.4
p.S205T
c.613T>A
NM_023927.4
p.S242Y
c.725C>A
NM_023927.4
p.S252*
c.755C>A
NM_023927.4
p.S252*
c.755C>G
NM_023927.4
p.Q274E
c.820C>G