Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.72021201C>TCA126903DHODHc.595C>T (p.Arg199Cys)
n.1485-1964C>T
n.512C>T
n.314-1964C>T
c.514-2944C>T
c.511C>T (p.Arg171Cys)
c.187C>T (p.Arg63Cys)
c.166C>T (p.Arg56Cys)
c.268C>T (p.Arg90Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.72021201C>ACA396683028DHODHc.595C>A (p.Arg199Ser)
n.1485-1964C>A
n.512C>A
n.314-1964C>A
c.514-2944C>A
c.511C>A (p.Arg171Ser)
c.187C>A (p.Arg63Ser)
c.166C>A (p.Arg56Ser)
c.268C>A (p.Arg90Ser)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched