Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_001011720.2
p.F275Y
c.824T>A
NM_001011720.2
p.G87R
c.259G>A
NM_001011720.2
p.G87R
c.259G>C
NM_001011720.2
p.Q183*
c.547C>T
NM_001011720.2
p.M1insFs
c.2dupT
NM_001011720.2
p.N7fs
c.19_20fs
NM_001011720.2
p.N7_F8insFs
c.21_22insT
NM_001011720.2
p.W27G
c.79T>G
NM_001011720.2
p.A44A
c.132G>A
NM_001011720.2
p.K68_K69delFs
c.204_205delGA
NM_001011720.2
p.R91Splc
c.272+2238G>A
NM_001011720.2
p.E115K
c.343G>A