Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_001369783.1
p.S34A
c.100T>G
NM_001369783.1
p.M1I
c.3G>A
NM_001369783.1
p.M1_F2insFs
c.3_4insA
NM_001369783.1
p.L5L
c.15G>T
NM_001369783.1
p.E17K
c.49G>A
NM_001369783.1
p.R23Q
c.68G>A
NM_001369783.1
p.R27*
c.79C>T
NM_001369783.1
p.R31*
c.91A>T
NM_001369783.1
p.S34F
c.101C>T
NM_001369783.1
p.R39*
c.115A>T
NM_001369783.1
p.R39K
c.116G>A
NM_001369783.1
p.R54C
c.160C>T