Papers
RefSeq ID
Protein change
DNA change
1–12 of 86 variants
NM_014750.5
p.G69E
c.206G>A
NM_014750.5
p.R173*
c.517C>T
NM_014750.5
p.Q324H
c.972A>T
NM_014750.5
p.Q324H
c.972A>C
NM_014750.5
p.E753Q
c.2257G>C
NM_014750.5
p.M1insFs
c.2dupT
NM_014750.5
p.S3insFs
c.8dupC
NM_014750.5
p.R41Q
c.122G>A
NM_014750.5
p.A81G
c.242C>G
NM_014750.5
p.K83N
c.249A>T
NM_014750.5
p.K83N
c.249A>C
NM_014750.5
p.E99Q
c.295G>C