Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_144994.8
p.R46W
c.136C>T
NM_144994.8
p.R46Q
c.137G>A
NM_144994.8
p.S64R
c.190A>C
NM_144994.8
p.S64R
c.192T>G
NM_144994.8
p.S64R
c.192T>A
NM_144994.8
p.P92insFs
c.276dupC
NM_144994.8
p.R93fs
c.277_278fs
NM_144994.8
p.L20F
c.60G>T
NM_144994.8
p.L20F
c.60G>C
NM_144994.8
p.E47*
c.139G>T
NM_144994.8
p.K57Q
c.169A>C
NM_144994.8
p.K57R
c.170A>G