| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104786940G>A | CA120485 | ABCA1 | c.6241C>T (p.Arg2081Trp) c.6247C>T (p.Arg2083Trp) c.6067C>T (p.Arg2023Trp) c.6322C>T (p.Arg2108Trp) c.6316C>T (p.Arg2106Trp) c.5884C>T (p.Arg1962Trp) c.6286-550C>T (n.6286-550C>T) c.6184C>T (p.Arg2062Trp) n.6599-550C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104786940G= | CA1869913059 | ABCA1 | c.6241C= (p.Arg2081=) c.6247C= (p.Arg2083=) c.6067C= (p.Arg2023=) c.6322C= (p.Arg2108=) c.6316C= (p.Arg2106=) c.5884C= (p.Arg1962=) c.6286-550C= (n.6286-550C=) c.6184C= (p.Arg2062=) n.6599-550C= | dbSNP |
| 9 | g.104786940G>T | CA466495612 | ABCA1 | c.6241C>A (p.Arg2081=) c.6247C>A (p.Arg2083=) c.6067C>A (p.Arg2023=) c.6322C>A (p.Arg2108=) c.6316C>A (p.Arg2106=) c.5884C>A (p.Arg1962=) c.6286-550C>A (n.6286-550C>A) c.6184C>A (p.Arg2062=) n.6599-550C>A | dbSNP gnomAD v4 |