Papers
RefSeq ID
Protein change
DNA change
1–12 of 229 variants
NM_006744.4
p.L55P
c.164T>C
NM_006744.4
p.R37_F38Splc
c.111+1G>A
NM_006744.4
p.A73T
c.217G>A
NM_006744.4
p.A75T
c.223G>A
NM_006744.4
p.N83Splc
c.248+1G>A
NM_006744.4
p.R23*
c.67C>T
NM_006744.4
p.I59N
c.176T>A
NM_006744.4
p.G93D
c.278G>A
NM_006744.4
p.Y132N
c.394T>A
NM_006744.4
p.E31E
c.93G>A
NM_006744.4
p.F33V
c.97T>G
NM_006744.4
p.V60G
c.179T>G