Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_002634.4
p.Y114F
c.341A>T
NM_002634.4
p.L170_T171Splc
c.511-12C>G
NM_002634.4
p.G13D
c.38G>A
NM_002634.4
p.A19T
c.55G>A
NM_002634.4
p.R43L
c.128G>T
NM_002634.4
p.V45_Q46Fs
c.134_136delinsCCFs
NM_002634.4
p.V50A
c.149T>C
NM_002634.4
p.R72L
c.215G>T
NM_002634.4
p.R74H
c.221G>A
NM_002634.4
p.P77A
c.229C>G
NM_002634.4
p.L92L
c.276G>T
NM_002634.4
p.R97Q
c.290G>A