Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_173587.4
p.Y172N
c.514T>A
NM_173587.4
p.T514A
c.1540A>G
NM_173587.4
p.S3L
c.8C>T
NM_173587.4
p.R254Q
c.761G>A
NM_173587.4
p.Q290*
c.868C>T
NM_173587.4
p.E6K
c.16G>A
NM_173587.4
p.S9C
c.25A>T
NM_173587.4
p.E62Splc
c.184+46G>T
NM_173587.4
p.E62Splc
c.185-106C>T
NM_173587.4
p.R66C
c.196C>T
NM_173587.4
p.E71G
c.212A>G
NM_173587.4
p.V77L
c.229G>T