Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.215064204C>GCA10588337ABCA12c.179G>C (p.Arg60Pro)
n.399G>C
n.597G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.215064204C>TCA2092625ABCA12c.179G>A (p.Arg60Gln)
n.399G>A
n.597G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched