Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_001080393.2
p.L228F
c.682C>T
NM_001080393.2
p.L20M
c.58C>A
NM_001080393.2
p.A34E
c.101C>A
NM_001080393.2
p.P72T
c.214C>A
NM_001080393.2
p.A79T
c.235G>A
NM_001080393.2
p.N119S
c.356A>G
NM_001080393.2
p.R137G
c.409A>G
NM_001080393.2
p.W185*
c.554G>A
NM_001080393.2
p.W185*
c.555G>A
NM_001080393.2
p.L199I
c.595C>A
NM_001080393.2
p.D205N
c.613G>A
NM_001080393.2
p.Q236*
c.706C>T