Papers
RefSeq ID
Protein change
DNA change
1–12 of 113 variants
NM_003503.4
p.N31fs
c.91_92fs
NM_003503.4
p.F142C
c.425T>G
NM_003503.4
p.R167C
c.499C>T
NM_003503.4
p.K441R
c.1322A>G
NM_003503.4
p.L28insFs
c.84dupA
NM_003503.4
p.N31delFs
c.92delA
NM_003503.4
p.A75S
c.223G>T
NM_003503.4
p.D196N
c.586G>A
NM_003503.4
p.I208M
c.624A>G
NM_003503.4
p.L28fs
c.82_83fs
NM_003503.4
p.L28*
c.83T>A
NM_003503.4
p.L28*
c.83T>G