Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.51347006C>TCA126841ETFBc.491G>A (p.Arg164Gln)
c.764G>A (p.Arg255Gln)
n.1525G>A
c.332G>A (p.Arg111Gln)
c.380G>A (p.Arg127Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.51347006C>GCA407081147ETFBc.491G>C (p.Arg164Pro)
c.764G>C (p.Arg255Pro)
n.1525G>C
c.332G>C (p.Arg111Pro)
c.380G>C (p.Arg127Pro)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched