| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104831048C>G | CA120483 | ABCA1 | c.1769G>C (p.Trp590Ser) c.1589G>C (p.Trp530Ser) c.1844G>C (p.Trp615Ser) c.1406G>C (p.Trp469Ser) c.1706G>C (p.Trp569Ser) n.2157G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831048C>A | CA5168908 | ABCA1 | c.1769G>T (p.Trp590Leu) c.1589G>T (p.Trp530Leu) c.1844G>T (p.Trp615Leu) c.1406G>T (p.Trp469Leu) c.1706G>T (p.Trp569Leu) n.2157G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831048C>T | CA374323151 | ABCA1 | c.1769G>A (p.Trp590Ter) c.1589G>A (p.Trp530Ter) c.1844G>A (p.Trp615Ter) c.1406G>A (p.Trp469Ter) c.1706G>A (p.Trp569Ter) n.2157G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 9 | g.104831048C= | CA1869924110 | ABCA1 | c.1769G= (p.Trp590=) c.1589G= (p.Trp530=) c.1844G= (p.Trp615=) c.1406G= (p.Trp469=) c.1706G= (p.Trp569=) n.2157G= | dbSNP |