Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_080651.4
p.D107H
c.319G>C
NM_080651.4
p.P4delFs
c.11delC
NM_080651.4
p.P4fs
c.10_11fs
NM_080651.4
p.A7V
c.20C>T
NM_080651.4
p.M11V
c.31A>G
NM_080651.4
p.R26R
c.76C>A
NM_080651.4
p.C34C
c.102C>T
NM_080651.4
p.P116A
c.346C>G
NM_080651.4
p.R128Q
c.383G>A
NM_080651.4
p.P131S
c.391C>T
NM_080651.4
p.K152N
c.456G>C
NM_080651.4
p.K152N
c.456G>T