Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
NM_003312.6
p.E50Q
c.148G>C
NM_003312.6
p.E102D
c.306A>C
NM_003312.6
p.S106S
c.318C>T
NM_003312.6
p.M1T
c.2T>C
NM_003312.6
p.E18delFs
c.54delC
NM_003312.6
p.L32_D33insFs
c.96_97insC
NM_003312.6
p.R45C
c.133C>T
NM_003312.6
p.D100E
c.300T>A
NM_003312.6
p.E102D
c.306A>T
NM_003312.6
p.V141insFs
c.421_422ins4
NM_003312.6
p.V152I
c.454G>A
NM_003312.6
p.A208insFs
c.623_624insG