Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
NM_145647.4
p.Q63E
c.187C>G
NM_145647.4
p.R94H
c.281G>A
NM_145647.4
p.F631insFs
c.1893dupT
NM_145647.4
p.H632fs
c.1894_1895fs
NM_145647.4
p.K945_W946Splc
c.2835+1G>T
NM_145647.4
p.M1K
c.2T>A
NM_145647.4
p.Q2fs
c.4_5fs
NM_145647.4
p.S3R
c.7A>C
NM_145647.4
p.S3R
c.9C>A
NM_145647.4
p.S3R
c.9C>G
NM_145647.4
p.I31V
c.91A>G
NM_145647.4
p.R94C
c.280C>T