Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169549811C>ACA343124115F5c.1601G>T (p.Arg534Leu)
c.1190G>T (p.Arg397Leu)
dbSNP
1g.169549811C>TCA114378F5c.1601G>A (p.Arg534Gln)
c.1190G>A (p.Arg397Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169549811C=CA1234291F5c.1601G= (p.Arg534=)
c.1190G= (p.Arg397=)
dbSNP
1g.169549811C>GCA343124116F5c.1601G>C (p.Arg534Pro)
c.1190G>C (p.Arg397Pro)
dbSNP

Number of alleles fetched