Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_003693.4
p.A117E
c.350C>A
NM_003693.4
p.P273L
c.818C>T
NM_003693.4
p.E639D
c.1917G>T
NM_003693.4
p.E639D
c.1917G>C
NM_003693.4
p.A720V
c.2159C>T
NM_003693.4
p.G2R
c.4G>A
NM_003693.4
p.P35S
c.103C>T
NM_003693.4
p.G116S
c.346G>A
NM_003693.4
p.R188H
c.563G>A
NM_003693.4
p.G303fs
c.907_908fs
NM_003693.4
p.P311T
c.931C>A
NM_003693.4
p.E317insFs
c.949_950insA