Papers
RefSeq ID
Protein change
DNA change
1–12 of 214 variants
NM_006045.3
p.R290*
c.868C>T
NM_006045.3
p.R145*
c.433C>T
NM_006045.3
p.A214_D215Splc
c.642+1G>A
NM_006045.3
p.R290Q
c.869G>A
NM_006045.3
p.S366S
c.1098G>A
NM_006045.3
p.E400Q
c.1198G>C
NM_006045.3
p.L109_G110Splc
c.327+1G>T
NM_006045.3
p.S184fs
c.550_551fs
NM_006045.3
p.R220*
c.658C>T
NM_006045.3
p.S221L
c.662C>T
NM_006045.3
p.S266L
c.797C>T
NM_006045.3
p.G267Splc
c.799+1G>T