Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104822520T>C | CA212916 | ABCA1 | c.2804A>G (p.Asn935Ser) c.2624A>G (p.Asn875Ser) c.2879A>G (p.Asn960Ser) c.2441A>G (p.Asn814Ser) c.2741A>G (p.Asn914Ser) n.3192A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
9 | g.104822520T>A | CA374320145 | ABCA1 | c.2804A>T (p.Asn935Ile) c.2624A>T (p.Asn875Ile) c.2879A>T (p.Asn960Ile) c.2441A>T (p.Asn814Ile) c.2741A>T (p.Asn914Ile) n.3192A>T | dbSNP |