Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_173853.4
p.V63V
c.189C>T
NM_173853.4
p.A12insFs
c.35_36ins28
NM_173853.4
p.R13fs
c.37_38fs
NM_173853.4
p.R16S
c.48G>C
NM_173853.4
p.R16S
c.48G>T
NM_173853.4
p.G29G
c.87C>T
NM_173853.4
p.H46R
c.137A>G
NM_173853.4
p.S83F
c.248C>T
NM_173853.4
p.P89L
c.266C>T
NM_173853.4
p.L115del1
c.343_344delCTT
NM_173853.4
p.V121A
c.362T>C
NM_173853.4
p.D161D
c.483T>C