| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104828991G>T | CA5168838 | ABCA1 | c.2040C>A (p.Ile680=) n.213C>A c.1860C>A (p.Ile620=) c.2115C>A (p.Ile705=) c.1677C>A (p.Ile559=) c.1977C>A (p.Ile659=) n.2428C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104828991G>C | CA374322169 | ABCA1 | c.2040C>G (p.Ile680Met) n.213C>G c.1860C>G (p.Ile620Met) c.2115C>G (p.Ile705Met) c.1677C>G (p.Ile559Met) c.1977C>G (p.Ile659Met) n.2428C>G | dbSNP |
| 9 | g.104828991G= | CA1869920162 | ABCA1 | c.2040C= (p.Ile680=) n.213C= c.1860C= (p.Ile620=) c.2115C= (p.Ile705=) c.1677C= (p.Ile559=) c.1977C= (p.Ile659=) n.2428C= | dbSNP |
| 9 | g.104828991G>A | CA466510297 | ABCA1 | c.2040C>T (p.Ile680=) n.213C>T c.1860C>T (p.Ile620=) c.2115C>T (p.Ile705=) c.1677C>T (p.Ile559=) c.1977C>T (p.Ile659=) n.2428C>T | dbSNP |