Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_004808.3
p.R204H
c.611G>A
NM_004808.3
p.D456H
c.1366G>C
NM_004808.3
p.D25E
c.75C>G
NM_004808.3
p.D25E
c.75C>A
NM_004808.3
p.E29K
c.85G>A
NM_004808.3
p.G63R
c.187G>C
NM_004808.3
p.A114A
c.342T>C
NM_004808.3
p.D123E
c.369C>G
NM_004808.3
p.D123E
c.369C>A
NM_004808.3
p.V133V
c.399C>T
NM_004808.3
p.K144E
c.430A>G
NM_004808.3
p.N146N
c.438C>T