Papers
RefSeq ID
Protein change
DNA change
1–12 of 185 variants
NM_003781.4
p.G271R
c.811G>A
NM_003781.4
p.R68*
c.202C>T
NM_003781.4
p.G271R
c.811G>C
NM_003781.4
p.D126N
c.376G>A
NM_003781.4
p.R145*
c.433C>T
NM_003781.4
p.D150G
c.449A>G
NM_003781.4
p.E266A
c.797A>C
NM_003781.4
p.W320*
c.959G>A
NM_003781.4
p.S37G
c.109A>G
NM_003781.4
p.S71T
c.211T>A
NM_003781.4
p.V112I
c.334G>A
NM_003781.4
p.D180insFs
c.538_539insA