Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
NM_001128126.3
p.R97*
c.289C>T
NM_001128126.3
p.R42*
c.124C>T
NM_001128126.3
p.V98_S99Splc
c.295-3C>A
NM_001128126.3
p.V98_S99Splc
c.294+1G>T
NM_001128126.3
p.R15*
c.43C>T
NM_001128126.3
p.S17insFs
c.49dupT
NM_001128126.3
p.Q46_C47Splc
c.139-2A>G
NM_001128126.3
p.L6P
c.17T>C
NM_001128126.3
p.Y52H
c.154T>C
NM_001128126.3
p.Q46fs
c.136_137fs
NM_001128126.3
p.E77*
c.229G>T
NM_001128126.3
p.M78_A79insFs
c.234_235insG