Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_032343.3
p.A95S
c.283G>T
NM_032343.3
p.Y208H
c.622T>C
NM_032343.3
p.E5fs
c.13_14fs
NM_032343.3
p.R29_L30Splc
c.87+26C>A
NM_032343.3
p.E32A
c.95A>C
NM_032343.3
p.E32G
c.95A>G
NM_032343.3
p.R37H
c.110G>A
NM_032343.3
p.P48S
c.142C>T
NM_032343.3
p.S51_T52delFs
c.153_154delTA
NM_032343.3
p.G58S
c.172G>A
NM_032343.3
p.G58R
c.172G>C
NM_032343.3
p.G58D
c.173G>A