Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_006656.6
p.R48Q
c.143G>A
NM_006656.6
p.S79S
c.237T>C
NM_006656.6
p.P122S
c.364C>T
NM_006656.6
p.P196A
c.586C>G
NM_006656.6
p.*462Y
c.1386A>T
NM_006656.6
p.E23V
c.68A>T
NM_006656.6
p.E25K
c.73G>A
NM_006656.6
p.E32Splc
c.94+1G>A
NM_006656.6
p.G54G
c.162G>A
NM_006656.6
p.P67delFs
c.201delC
NM_006656.6
p.P67A
c.199C>G
NM_006656.6
p.R78C
c.232C>T