Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
NM_144772.3
p.K245Q
c.733A>C
NM_144772.3
p.A94D
c.281C>A
NM_144772.3
p.D218V
c.653A>T
NM_144772.3
p.Y59*
c.177C>A
NM_144772.3
p.Q66*
c.196C>T
NM_144772.3
p.E172_P173Splc
c.516+1G>A
NM_144772.3
p.K270del1
c.808_809delAAG
NM_144772.3
p.I214S
c.641T>G
NM_144772.3
p.G222Splc
c.665-1G>A
NM_144772.3
p.G253S
c.757G>A
NM_144772.3
p.E268_K269delins
c.804_807delinsA
NM_144772.3
p.Y59*
c.177C>G