Papers
RefSeq ID
Protein change
DNA change
1–12 of 174 variants
NM_001292034.3
p.Q230K
c.688C>A
NM_001292034.3
p.P208S
c.622C>T
NM_001292034.3
p.Y497*
c.1491T>A
NM_001292034.3
p.Y497*
c.1491T>G
NM_001292034.3
p.E569K
c.1705G>A
NM_001292034.3
p.Q540R
c.1619A>G
NM_001292034.3
p.R347*
c.1039C>T
NM_001292034.3
p.S149*
c.446C>A
NM_001292034.3
p.S149*
c.446C>G
NM_001292034.3
p.I466insFs
c.1398dupT
NM_001292034.3
p.T467fs
c.1399_1400fs
NM_001292034.3
p.Q238*
c.712C>T