Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_173545.3
p.S224T
c.670T>A
NM_173545.3
p.Q433K
c.1297C>A
NM_173545.3
p.I100V
c.298A>G
NM_173545.3
p.P129T
c.385C>A
NM_173545.3
p.K36M
c.107A>T
NM_173545.3
p.H42L
c.125A>T
NM_173545.3
p.Y82C
c.245A>G
NM_173545.3
p.V133M
c.397G>A
NM_173545.3
p.W189G
c.565T>G
NM_173545.3
p.K312_R313del1
c.936_938delAAG
NM_173545.3
p.L336F
c.1006C>T
NM_173545.3
p.Q8K
c.22C>A