Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
NM_000413.4
p.G313S
c.937G>A
NM_000413.4
p.A238V
c.713C>T
NM_000413.4
p.H180Splc
c.540-150C>A
NM_000413.4
p.A162A
c.486G>A
NM_000413.4
p.Y254D
c.760T>G
NM_000413.4
p.A2V
c.5C>T
NM_000413.4
p.S12P
c.34T>C
NM_000413.4
p.V21A
c.62T>C
NM_000413.4
p.V33Splc
c.97+1G>A
NM_000413.4
p.E105*
c.313G>T
NM_000413.4
p.G316insFs
c.947dupG
NM_000413.4
p.A2T
c.4G>A