Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_001765.3
p.R89C
c.265C>T
NM_001765.3
p.R281*
c.841C>T
NM_001765.3
p.Q115*
c.343C>T
NM_001765.3
p.I181L
c.541A>C
NM_001765.3
p.I181L
c.541A>T
NM_001765.3
p.Q265*
c.793C>T
NM_001765.3
p.R283T
c.848G>C
NM_001765.3
p.M1T
c.2T>C
NM_001765.3
p.D20N
c.58G>A
NM_001765.3
p.A21Splc
c.61+499C>A
NM_001765.3
p.E24K
c.70G>A
NM_001765.3
p.E24insFs
c.70_71ins4