Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_174923.3
p.I220V
c.658A>G
NM_174923.3
p.M1insFs
c.1dupA
NM_174923.3
p.L13M
c.37C>A
NM_174923.3
p.L14M
c.40C>A
NM_174923.3
p.L14Q
c.41T>A
NM_174923.3
p.Q57*
c.169C>T
NM_174923.3
p.E59Q
c.175G>C
NM_174923.3
p.E107_Q108ins7
c.321_322ins21
NM_174923.3
p.Q122Q
c.366G>A
NM_174923.3
p.L134delFs
c.400delC
NM_174923.3
p.S190F
c.569C>T
NM_174923.3
p.E218_I220delFs
c.654_658del5