Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_001145191.2
p.H545N
c.1633C>A
NM_001145191.2
p.R203Q
c.608G>A
NM_001145191.2
p.W425*
c.1274G>A
NM_001145191.2
p.W425*
c.1275G>A
NM_001145191.2
p.S443N
c.1328G>A
NM_001145191.2
p.E18V
c.53A>T
NM_001145191.2
p.V30G
c.89T>G
NM_001145191.2
p.E36D
c.108G>C
NM_001145191.2
p.E36D
c.108G>T
NM_001145191.2
p.K54insFs
c.161_162ins28
NM_001145191.2
p.K55*
c.163A>T
NM_001145191.2
p.I88T
c.263T>C