Papers
RefSeq ID
Protein change
DNA change
1–12 of 266 variants
NM_152513.4
p.K62N
c.186G>C
NM_152513.4
p.F529I
c.1585T>A
NM_152513.4
p.R1103W
c.3307C>T
NM_152513.4
p.K62N
c.186G>T
NM_152513.4
p.L309F
c.925C>T
NM_152513.4
p.T363M
c.1088C>T
NM_152513.4
p.A1001delFs
c.3002delC
NM_152513.4
p.G245Splc
c.734-2A>C
NM_152513.4
p.Q249*
c.745C>T
NM_152513.4
p.A598Splc
c.1792+1G>T
NM_152513.4
p.V84delFs
c.251delT
NM_152513.4
p.R399Splc
c.1196+1G>A