Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_006345.4
p.M50V
c.148A>G
NM_006345.4
p.S14delFs
c.40delA
NM_006345.4
p.T97A
c.289A>G
NM_006345.4
p.A350del1
c.1048_1049delGCA
NM_006345.4
p.A29insFs
c.86_87dupCC
NM_006345.4
p.S14fs
c.40_41fs
NM_006345.4
p.C30fs
c.88_89fs
NM_006345.4
p.P52S
c.154C>T
NM_006345.4
p.G122G
c.366C>A
NM_006345.4
p.L361insFs
c.1083dupT
NM_006345.4
p.V362fs
c.1084_1085fs
NM_006345.4
p.G418V
c.1253G>T