Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_020457.3
p.Q132del1
c.394_395delCAG
NM_020457.3
p.F80L
c.238T>C
NM_020457.3
p.F80L
c.240C>A
NM_020457.3
p.F80L
c.240C>G
NM_020457.3
p.Q115_Q116del0
c.343_348del6
NM_020457.3
p.Q117del1
c.349_350delCAG
NM_020457.3
p.Q132*
c.394C>T
NM_020457.3
p.M1insFs
c.2dupT
NM_020457.3
p.D18V
c.53A>T
NM_020457.3
p.A30P
c.88G>C
NM_020457.3
p.N39delFs
c.115_116delAA
NM_020457.3
p.N39delFs
c.117delC