Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_000717.5
p.K97*
c.289A>T
Surrounding Variants
NM_000717.5
p.G103E
c.308G>A
NM_000717.5
p.G103G
c.309A>G
NM_000717.5
p.Q110*
c.328C>T
NM_000717.5
p.L114S
c.341T>C
NM_000717.5
p.H117Y
c.349C>T
NM_000717.5
p.P122T
c.364C>A
NM_000717.5
p.E127_H134del0
c.379_402del24
NM_000717.5
p.H128_D131delFs
c.383_392del10
NM_000717.5
p.M137L
c.409A>C
NM_000717.5
p.E138K
c.412G>A
NM_000717.5
p.E138A
c.413A>C
NM_000717.5
p.E138_M139Splc
c.415-39C>G