Papers
RefSeq ID
Protein change
DNA change
1–12 of 108 variants
NM_003211.6
p.G199S
c.595G>A
NM_003211.6
p.V367M
c.1099G>A
NM_003211.6
p.I98insFs
c.292dupA
NM_003211.6
p.R66G
c.196A>G
NM_003211.6
p.T129T
c.387C>A
NM_003211.6
p.N157D
c.469A>G
NM_003211.6
p.E170E
c.510G>A
NM_003211.6
p.S8Splc
c.23+1G>C
NM_003211.6
p.K201T
c.602A>C
NM_003211.6
p.I364insFs
c.1090_1091ins8
NM_003211.6
p.E4D
c.12G>C
NM_003211.6
p.P65A
c.193C>G