| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104800523T>C | CA5168028 | ABCA1 | c.4760A>G (p.Lys1587Arg) c.4766A>G (p.Lys1589Arg) c.4586A>G (p.Lys1529Arg) c.4841A>G (p.Lys1614Arg) c.4835A>G (p.Lys1612Arg) c.4403A>G (p.Lys1468Arg) c.4703A>G (p.Lys1568Arg) n.5154A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.104800523T>A | CA374314732 | ABCA1 | c.4760A>T (p.Lys1587Ile) c.4766A>T (p.Lys1589Ile) c.4586A>T (p.Lys1529Ile) c.4841A>T (p.Lys1614Ile) c.4835A>T (p.Lys1612Ile) c.4403A>T (p.Lys1468Ile) c.4703A>T (p.Lys1568Ile) n.5154A>T | dbSNP gnomAD v4 |
| 9 | g.104800523T= | CA1869919971 | ABCA1 | c.4760A= (p.Lys1587=) c.4766A= (p.Lys1589=) c.4586A= (p.Lys1529=) c.4841A= (p.Lys1614=) c.4835A= (p.Lys1612=) c.4403A= (p.Lys1468=) c.4703A= (p.Lys1568=) n.5154A= | dbSNP |
| 9 | g.104800523T>G | CA374314731 | ABCA1 | c.4760A>C (p.Lys1587Thr) c.4766A>C (p.Lys1589Thr) c.4586A>C (p.Lys1529Thr) c.4841A>C (p.Lys1614Thr) c.4835A>C (p.Lys1612Thr) c.4403A>C (p.Lys1468Thr) c.4703A>C (p.Lys1568Thr) n.5154A>C | dbSNP |