Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_000117.3
p.Q44*
c.130C>T
Surrounding Variants
NM_000117.3
p.Q44P
c.131A>C
NM_000117.3
p.T43I
c.128C>T
NM_000117.3
p.Q44H
c.132G>C
NM_000117.3
p.R45insFs
c.133dupA
NM_000117.3
p.R45insFs
c.135dupG
NM_000117.3
p.R45fs
c.133_134fs
NM_000117.3
p.R46fs
c.136_137fs
NM_000117.3
p.Y41*
c.123C>A
NM_000117.3
p.Y41*
c.123C>G
NM_000117.3
p.Y41F
c.122A>T
NM_000117.3
p.R47delFs
c.141delG
NM_000117.3
p.E40*
c.118G>T