Papers
RefSeq ID
Protein change
DNA change
1–12 of 194 variants
NM_025244.4
p.Q580P
c.1739A>C
NM_025244.4
p.A71delFs
c.211delC
NM_025244.4
p.A71fs
c.211_212fs
NM_025244.4
p.Q369_A370Splc
c.1108-1G>T
NM_025244.4
p.L182insFs
c.545dupT
NM_025244.4
p.R330C
c.988C>T
NM_025244.4
p.Q72Q
c.216G>A
NM_025244.4
p.F109L
c.327T>A
NM_025244.4
p.D111Y
c.331G>T
NM_025244.4
p.A183fs
c.547_548fs
NM_025244.4
p.K270N
c.810G>T
NM_025244.4
p.K270N
c.810G>C