Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_000117.3
p.Y41*
c.123C>G
Surrounding Variants
NM_000117.3
p.Y41*
c.123C>A
NM_000117.3
p.Y41F
c.122A>T
NM_000117.3
p.T43I
c.128C>T
NM_000117.3
p.E40*
c.118G>T
NM_000117.3
p.F39L
c.117C>A
NM_000117.3
p.Q44*
c.130C>T
NM_000117.3
p.E40_P50delFs
c.118_148del31
NM_000117.3
p.Q44P
c.131A>C
NM_000117.3
p.F39fs
c.115_116fs
NM_000117.3
p.I38M
c.114C>G
NM_000117.3
p.Q44H
c.132G>C
NM_000117.3
p.R45insFs
c.133dupA