Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2326201C>GCA394352685ABCA3c.128G>C (p.Arg43Pro)
n.691G>C
dbSNP
16g.2326201C>TCA7841779ABCA3c.128G>A (p.Arg43His)
n.691G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2326201C=CA2202169190ABCA3c.128G= (p.Arg43=)
n.691G=
dbSNP

Number of alleles fetched