Papers
RefSeq ID
Protein change
DNA change
1–12 of 359 variants
NM_000111.3
p.G187*
c.559G>T
NM_000111.3
p.V317del1
c.949_950delCAC
NM_000111.3
p.I675_R676ins0
c.2024_2026dupTCA
NM_000111.3
p.I544N
c.1631T>A
NM_000111.3
p.D688Splc
c.2063-1G>T
NM_000111.3
p.D652N
c.1954G>A
NM_000111.3
p.Q90insFs
c.269_270dupAA
NM_000111.3
p.C307W
c.921T>G
NM_000111.3
p.A433A
c.1299G>A
NM_000111.3
p.P131R
c.392C>G
NM_000111.3
p.D76N
c.226G>A
NM_000111.3
p.I115delFs
c.344delA