Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_001218.5
p.E143K
c.427G>A
NM_001218.5
p.H121Q
c.363C>G
NM_001218.5
p.H121Q
c.363C>A
NM_001218.5
p.G303Splc
c.908-1G>A
NM_001218.5
p.P212L
c.635C>T
NM_001218.5
p.T287insFs
c.859_860ins4
NM_001218.5
p.A354V
c.1061C>T
NM_001218.5
p.A8T
c.22G>A
NM_001218.5
p.K18E
c.52A>G
NM_001218.5
p.K18Q
c.52A>C
NM_001218.5
p.N28N
c.84C>T
NM_001218.5
p.G36A
c.107G>C