Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
NM_017410.3
p.Y130*
c.390C>A
NM_017410.3
p.L119fs
c.355_356fs
NM_017410.3
p.L119delFs
c.355delC
NM_017410.3
p.S135*
c.404C>A
NM_017410.3
p.H68fs
c.202_203fs
NM_017410.3
p.Y130*
c.390C>G
NM_017410.3
p.Q89*
c.265C>T
NM_017410.3
p.R291W
c.871C>T
NM_017410.3
p.N310T
c.929A>C
NM_017410.3
p.S322L
c.965C>T
NM_017410.3
p.T94K
c.281C>A
NM_017410.3
p.Q271R
c.812A>G