Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_016001.3
p.V406I
c.1216G>A
NM_016001.3
p.E82K
c.244G>A
NM_016001.3
p.M152Splc
c.455+35T>C
NM_016001.3
p.T204I
c.611C>T
NM_016001.3
p.T229T
c.687T>G
NM_016001.3
p.I254I
c.762C>T
NM_016001.3
p.S255*
c.764C>A
NM_016001.3
p.S255*
c.764C>G
NM_016001.3
p.S255S
c.765A>C
NM_016001.3
p.C302C
c.906T>C
NM_016001.3
p.T315fs
c.943_944fs
NM_016001.3
p.T315delFs
c.944delC