Papers
RefSeq ID
Protein change
DNA change
1–12 of 86 variants
NM_003014.4
p.P320T
c.958C>A
NM_003014.4
p.R340K
c.1019G>A
NM_003014.4
p.R105C
c.313C>T
NM_003014.4
p.R105_D106delFs
c.315_316delCG
NM_003014.4
p.R177W
c.529C>T
NM_003014.4
p.A54D
c.161C>A
NM_003014.4
p.Y61*
c.183C>G
NM_003014.4
p.Y61*
c.183C>A
NM_003014.4
p.D106fs
c.316_317fs
NM_003014.4
p.C125S
c.373T>A
NM_003014.4
p.C125S
c.374G>C
NM_003014.4
p.V161fs
c.481_482fs