Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_032320.7
p.R20G
c.58C>G
NM_032320.7
p.R38H
c.113G>A
NM_032320.7
p.R70fs
c.208_209fs
NM_032320.7
p.R78fs
c.232_233fs
NM_032320.7
p.R78delFs
c.233delC
NM_032320.7
p.G194V
c.581G>T
NM_032320.7
p.S199Y
c.596C>A
NM_032320.7
p.Y232*
c.696T>G
NM_032320.7
p.Y232*
c.696T>A
NM_032320.7
p.R238H
c.713G>A
NM_032320.7
p.L269I
c.805C>A
NM_032320.7
p.V415_D416insFs
c.1245_1246insC