Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_004419.4
p.A220delins
c.658_659delinsAT
NM_004419.4
p.S147P
c.439T>C
NM_004419.4
p.A220T
c.658G>A
NM_004419.4
p.A220V
c.659C>T
NM_004419.4
p.C263S
c.787T>A
NM_004419.4
p.C263S
c.788G>C
NM_004419.4
p.I293M
c.879C>G
NM_004419.4
p.S134L
c.401C>T
NM_004419.4
p.E264Q
c.790G>C
NM_004419.4
p.A21A
c.63G>T
NM_004419.4
p.L26L
c.78C>T
NM_004419.4
p.A36V
c.107C>T