Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_005398.7
p.R48*
c.142C>T
NM_005398.7
p.N63S
c.188A>G
NM_005398.7
p.D89Y
c.265G>T
NM_005398.7
p.N249S
c.746A>G
NM_005398.7
p.R13C
c.37C>T
NM_005398.7
p.L15_T16insFs
c.45_46insT
NM_005398.7
p.S18L
c.53C>T
NM_005398.7
p.S18delFs
c.53delG
NM_005398.7
p.V22L
c.64G>T
NM_005398.7
p.V22L
c.64G>C
NM_005398.7
p.V24V
c.72G>A
NM_005398.7
p.P42L
c.125C>T