Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_001039570.3
p.F209S
c.626T>C
NM_001039570.3
p.T49R
c.146C>G
NM_001039570.3
p.F258_L260del0
c.773_778del6
NM_001039570.3
p.C111S
c.331T>A
NM_001039570.3
p.C111S
c.332G>C
NM_001039570.3
p.A346_S349delFs
c.1036_1046del11
NM_001039570.3
p.E33Splc
c.97+2T>A
NM_001039570.3
p.E33fs
c.97_98fs
NM_001039570.3
p.H66N
c.196C>A
NM_001039570.3
p.Y68*
c.204C>A
NM_001039570.3
p.Y68*
c.204C>G
NM_001039570.3
p.Y228N
c.682T>A