Papers
RefSeq ID
Protein change
DNA change
1–12 of 120 variants
NM_001374.3
p.L146P
c.437T>C
NM_001374.3
p.D197A
c.590A>C
NM_001374.3
p.A20D
c.59C>A
NM_001374.3
p.R94W
c.280C>T
NM_001374.3
p.S148P
c.442T>C
NM_001374.3
p.R149_T153delFs
c.446_459del14
NM_001374.3
p.D287N
c.859G>A
NM_001374.3
p.N28D
c.82A>G
NM_001374.3
p.R62*
c.184C>T
NM_001374.3
p.H82Q
c.246C>A
NM_001374.3
p.H82Q
c.246C>G
NM_001374.3
p.V104L
c.310G>C