Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_018126.3
p.Q234P
c.701A>C
NM_018126.3
p.K22E
c.64A>G
NM_018126.3
p.A39G
c.116C>G
NM_018126.3
p.Q86E
c.256C>G
NM_018126.3
p.L96fs
c.286_287fs
NM_018126.3
p.L96delFs
c.288delG
NM_018126.3
p.L97fs
c.289_290fs
NM_018126.3
p.L97_S99delFs
c.290_297del8
NM_018126.3
p.L97L
c.291G>A
NM_018126.3
p.S99L
c.296C>T
NM_018126.3
p.L100L
c.300C>G
NM_018126.3
p.Q179K
c.535C>A