Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_152595.5
p.Y278Y
c.834T>C
NM_152595.5
p.D60H
c.178G>C
NM_152595.5
p.S72S
c.216C>A
NM_152595.5
p.S118*
c.353C>A
NM_152595.5
p.S118*
c.353C>G
NM_152595.5
p.E154K
c.460G>A
NM_152595.5
p.S178*
c.533C>A
NM_152595.5
p.S178*
c.533C>G
NM_152595.5
p.F197delFs
c.589_590delTT
NM_152595.5
p.F197fs
c.589_590fs
NM_152595.5
p.F206L
c.618T>G
NM_152595.5
p.R270*
c.808C>T