Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_174893.4
p.A4delFs
c.11_12delCG
NM_174893.4
p.I11_F12del2
c.31_35del6
NM_174893.4
p.D34V
c.101A>T
NM_174893.4
p.G39G
c.117T>C
NM_174893.4
p.A40V
c.119C>T
NM_174893.4
p.T43R
c.128C>G
NM_174893.4
p.E46D
c.138A>C
NM_174893.4
p.R71Q
c.212G>A
NM_174893.4
p.K83T
c.248A>C
NM_174893.4
p.E86Q
c.256G>C
NM_174893.4
p.S96delFs
c.288delA
NM_174893.4
p.V104delFs
c.312delG