Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
NM_004575.3
p.G66_G67ins0
c.198_200dupCGG
NM_004575.3
p.S165_A166insGGC
c.493_497ins9
NM_004575.3
p.H182_Q183del1
c.546_548delCCA
NM_004575.3
p.G56_G58del3
c.166_173del9
NM_004575.3
p.D139E
c.417C>A
NM_004575.3
p.D139E
c.417C>G
NM_004575.3
p.A140T
c.418G>A
NM_004575.3
p.H174_H175insGGC
c.520_524ins9
NM_004575.3
p.H239Q
c.717C>A
NM_004575.3
p.H239Q
c.717C>G
NM_004575.3
p.D252H
c.754G>C
NM_004575.3
p.K271R
c.812A>G