Papers
RefSeq ID
Protein change
DNA change
1–12 of 183 variants
NM_004826.4
p.R404C
c.1210C>T
NM_004826.4
p.A675T
c.2023G>A
NM_004826.4
p.G197D
c.590G>A
NM_004826.4
p.W490*
c.1470G>A
NM_004826.4
p.G607S
c.1819G>A
NM_004826.4
p.R418C
c.1252C>T
NM_004826.4
p.R418S
c.1252C>A
NM_004826.4
p.R333*
c.997C>T
NM_004826.4
p.S550*
c.1649C>G
NM_004826.4
p.C760R
c.2278T>C
NM_004826.4
p.N115_S119del0
c.344_355del12
NM_004826.4
p.Y239insFs
c.716dupA