Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_015534.6
p.R5Q
c.14G>A
NM_015534.6
p.A34V
c.101C>T
NM_015534.6
p.D596H
c.1786G>C
NM_015534.6
p.D645H
c.1933G>C
NM_015534.6
p.S22delFs
c.66delA
NM_015534.6
p.N42H
c.124A>C
NM_015534.6
p.Q44E
c.130C>G
NM_015534.6
p.R48G
c.142A>G
NM_015534.6
p.P54A
c.160C>G
NM_015534.6
p.D70fs
c.208_209fs
NM_015534.6
p.D70insFs
c.209_210ins13
NM_015534.6
p.Q73R
c.218A>G