Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_194277.3
p.L130F
c.388C>T
Surrounding Variants
NM_194277.3
p.L130I
c.388C>A
NM_194277.3
p.E129D
c.387A>T
NM_194277.3
p.E129D
c.387A>C
NM_194277.3
p.S128fs
c.382_383fs
NM_194277.3
p.S128P
c.382T>C
NM_194277.3
p.S128Splc
c.383-1G>A
NM_194277.3
p.S128Splc
c.383-2A>G
NM_194277.3
p.S128Splc
c.383-3C>T
NM_194277.3
p.S128Splc
c.383-3C>A
NM_194277.3
p.S128Splc
c.383-5T>C
NM_194277.3
p.F133F
c.399T>C
NM_194277.3
p.E135_E136insC
c.403_407ins3