Papers
RefSeq ID
Protein change
DNA change
1–12 of 273 variants
NM_003921.5
p.I46delFs
c.136delT
NM_003921.5
p.G213E
c.638G>A
NM_003921.5
p.A5S
c.13G>T
NM_003921.5
p.R58Q
c.173G>A
NM_003921.5
p.I46fs
c.136_137fs
NM_003921.5
p.L174*
c.521T>A
NM_003921.5
p.I46fs
c.136_137fs
NM_003921.5
p.D19_A20Splc
c.57+1G>A
NM_003921.5
p.L8L
c.24C>G
NM_003921.5
p.E140*
c.418G>T
NM_003921.5
p.T162M
c.485C>T
NM_003921.5
p.L209*
c.626T>G