Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_014547.5
p.A274S
c.820G>T
NM_014547.5
p.S25A
c.73T>G
NM_014547.5
p.E33V
c.98A>T
NM_014547.5
p.D65V
c.194A>T
NM_014547.5
p.S71A
c.211T>G
NM_014547.5
p.K94delFs
c.282delA
NM_014547.5
p.I97fs
c.289_290fs
NM_014547.5
p.L123L
c.369G>A
NM_014547.5
p.A136V
c.407C>T
NM_014547.5
p.A136Splc
c.407-1G>A
NM_014547.5
p.A136V
c.407C>T
NM_014547.5
p.C150R
c.448T>C