Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99608977G>TCA123822MTTPc.1769G>T (p.Ser590Ile)
c.1520G>T (p.Ser507Ile)
c.1850G>T (p.Ser617Ile)
c.*216G>T (n.*216G>T)
ClinVar dbSNP gnomAD v4
4g.99608977G>ACA357513625MTTPc.1769G>A (p.Ser590Asn)
c.1520G>A (p.Ser507Asn)
c.1850G>A (p.Ser617Asn)
c.*216G>A (n.*216G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched