Papers
RefSeq ID
Protein change
DNA change
1–12 of 369 variants
NM_016247.4
p.R1088*
c.3262C>T
NM_016247.4
p.R906*
c.2716C>T
NM_016247.4
p.F124L
c.370T>C
NM_016247.4
p.W758*
c.2274G>A
NM_016247.4
p.F124L
c.372T>G
NM_016247.4
p.F124L
c.372T>A
NM_016247.4
p.W758*
c.2273G>A
NM_016247.4
p.Y171*
c.513T>G
NM_016247.4
p.Y171*
c.513T>A
NM_016247.4
p.T674I
c.2021C>T
NM_016247.4
p.R964*
c.2890C>T
NM_016247.4
p.S530*
c.1589C>A