Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_003353.4
p.R79delFs
c.235delG
NM_003353.4
p.L56delFs
c.167delA
NM_003353.4
p.A59_R64delFs
c.176_191del16
NM_003353.4
p.M1T
c.2T>C
NM_003353.4
p.M1I
c.3G>A
NM_003353.4
p.R2R
c.4A>C
NM_003353.4
p.R2K
c.5G>A
NM_003353.4
p.A11V
c.32C>T
NM_003353.4
p.A12insFs
c.35_36insG
NM_003353.4
p.L19M
c.55C>A
NM_003353.4
p.C20Y
c.59G>A
NM_003353.4
p.C20_G22del3
c.58_65del9