Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_145729.3
p.L91P
c.272T>C
NM_145729.3
p.R41Q
c.122G>A
NM_145729.3
p.R83Q
c.248G>A
NM_145729.3
p.E180K
c.538G>A
NM_145729.3
p.L7L
c.19C>T
NM_145729.3
p.A8V
c.23C>T
NM_145729.3
p.H18fs
c.52_53fs
NM_145729.3
p.H18fs
c.52_53fs
NM_145729.3
p.H18Q
c.54T>G
NM_145729.3
p.H18Q
c.54T>A
NM_145729.3
p.C58Y
c.173G>A
NM_145729.3
p.T61M
c.182C>T