| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908531A= | CA2338167826 | APOE | c.237-2A= (n.237-2A=) c.315-2A= (n.315-2A=) | |
| 19 | g.44908531A>C | CA406303608 | APOE | c.237-2A>C (n.237-2A>C) c.315-2A>C (n.315-2A>C) | |
| 19 | g.44908531A>G | CA127503 | APOE | c.237-2A>G (n.237-2A>G) c.315-2A>G (n.315-2A>G) | ClinVar dbSNP |
| 19 | g.44908531A>T | CA406303607 | APOE | c.237-2A>T (n.237-2A>T) c.315-2A>T (n.315-2A>T) | |
| 19 | g.44908532G>A | CA406303609 | APOE | c.237-1G>A (n.237-1G>A) c.315-1G>A (n.315-1G>A) | |
| 19 | g.44908532G>C | CA406303610 | APOE | c.237-1G>C (n.237-1G>C) c.315-1G>C (n.315-1G>C) | |
| 19 | g.44908532G>T | CA406303611 | APOE | c.237-1G>T (n.237-1G>T) c.315-1G>T (n.315-1G>T) | |
| 19 | g.44908533G>A | CA507947202 | APOE | c.237G>A (p.Arg79=) c.315G>A (p.Arg105=) | gnomAD v4 |
| 19 | g.44908533G>C | CA406303612 | APOE | c.237G>C (p.Arg79Ser) c.315G>C (p.Arg105Ser) | |
| 19 | g.44908533G>T | CA406303613 | APOE | c.237G>T (p.Arg79Ser) c.315G>T (p.Arg105Ser) | |
| 19 | g.44908534G>A | CA406303614 | APOE | c.238G>A (p.Ala80Thr) c.316G>A (p.Ala106Thr) | gnomAD v4 |
| 19 | g.44908534G>C | CA406303615 | APOE | c.238G>C (p.Ala80Pro) c.316G>C (p.Ala106Pro) | gnomAD v4 |
| 19 | g.44908534G= | CA2338167827 | APOE | c.238G= (p.Ala80=) c.316G= (p.Ala106=) | |
| 19 | g.44908534G>T | CA406303616 | APOE | c.238G>T (p.Ala80Ser) c.316G>T (p.Ala106Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908535C>A | CA9506025 | APOE | c.239C>A (p.Ala80Glu) c.317C>A (p.Ala106Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908535C= | CA2338167828 | APOE | c.239C= (p.Ala80=) c.317C= (p.Ala106=) | |
| 19 | g.44908535C>G | CA406303617 | APOE | c.239C>G (p.Ala80Gly) c.317C>G (p.Ala106Gly) | dbSNP |
| 19 | g.44908535C>T | CA406303618 | APOE | c.239C>T (p.Ala80Val) c.317C>T (p.Ala106Val) | dbSNP COSMIC |
| 19 | g.44908536G>A | CA9506026 | APOE | c.240G>A (p.Ala80=) c.318G>A (p.Ala106=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908536G>C | CA507947204 | APOE | c.240G>C (p.Ala80=) c.318G>C (p.Ala106=) | |
| 19 | g.44908536G= | CA2338167829 | APOE | c.240G= (p.Ala80=) c.318G= (p.Ala106=) | |
| 19 | g.44908536G>T | CA507947205 | APOE | c.240G>T (p.Ala80=) c.318G>T (p.Ala106=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908537C>A | CA406303619 | APOE | c.241C>A (p.Leu81Met) c.319C>A (p.Leu107Met) | |
| 19 | g.44908537C>G | CA406303620 | APOE | c.241C>G (p.Leu81Val) c.319C>G (p.Leu107Val) | |
| 19 | g.44908537C>T | CA507947206 | APOE | c.241C>T (p.Leu81=) c.319C>T (p.Leu107=) | |
| 19 | g.44908538T>A | CA406303621 | APOE | c.242T>A (p.Leu81Gln) c.320T>A (p.Leu107Gln) | |
| 19 | g.44908538T>C | CA406303622 | APOE | c.242T>C (p.Leu81Pro) c.320T>C (p.Leu107Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908538T>G | CA406303623 | APOE | c.242T>G (p.Leu81Arg) c.320T>G (p.Leu107Arg) | |
| 19 | g.44908538T= | CA2338167830 | APOE | c.242T= (p.Leu81=) c.320T= (p.Leu107=) | |
| 19 | g.44908539G>A | CA507947209 | APOE | c.243G>A (p.Leu81=) c.321G>A (p.Leu107=) | |
| 19 | g.44908539G>C | CA507947210 | APOE | c.243G>C (p.Leu81=) c.321G>C (p.Leu107=) | |
| 19 | g.44908539G>T | CA507947211 | APOE | c.243G>T (p.Leu81=) c.321G>T (p.Leu107=) | |
| 19 | g.44908540A>C | CA406303624 | APOE | c.244A>C (p.Met82Leu) c.322A>C (p.Met108Leu) | |
| 19 | g.44908540A>G | CA406303625 | APOE | c.244A>G (p.Met82Val) c.322A>G (p.Met108Val) | |
| 19 | g.44908540A>T | CA406303626 | APOE | c.244A>T (p.Met82Leu) c.322A>T (p.Met108Leu) | |
| 19 | g.44908541T>A | CA406303627 | APOE | c.245T>A (p.Met82Lys) c.323T>A (p.Met108Lys) | |
| 19 | g.44908541T>C | CA406303628 | APOE | c.245T>C (p.Met82Thr) c.323T>C (p.Met108Thr) | |
| 19 | g.44908541T>G | CA406303629 | APOE | c.245T>G (p.Met82Arg) c.323T>G (p.Met108Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908541T= | CA2338167831 | APOE | c.245T= (p.Met82=) c.323T= (p.Met108=) | |
| 19 | g.44908542G>A | CA406303630 | APOE | c.246G>A (p.Met82Ile) c.324G>A (p.Met108Ile) | |
| 19 | g.44908542G>C | CA406303631 | APOE | c.246G>C (p.Met82Ile) c.324G>C (p.Met108Ile) | |
| 19 | g.44908542G= | CA2338167832 | APOE | c.246G= (p.Met82=) c.324G= (p.Met108=) | |
| 19 | g.44908542G>T | CA308885232 | APOE | c.246G>T (p.Met82Ile) c.324G>T (p.Met108Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908543G>A | CA406303633 | APOE | c.247G>A (p.Asp83Asn) c.325G>A (p.Asp109Asn) | gnomAD v4 |
| 19 | g.44908543G>C | CA406303634 | APOE | c.247G>C (p.Asp83His) c.325G>C (p.Asp109His) | |
| 19 | g.44908543G>T | CA406303632 | APOE | c.247G>T (p.Asp83Tyr) c.325G>T (p.Asp109Tyr) | |
| 19 | g.44908546_44908550dup | CA2338167833 | APOE | c.250_254dup (p.Met86ArgfsTer3) c.328_332dup (p.Met112ArgfsTer3) | dbSNP |
| 19 | g.44908544A>C | CA406303637 | APOE | c.248A>C (p.Asp83Ala) c.326A>C (p.Asp109Ala) | |
| 19 | g.44908544A>G | CA406303635 | APOE | c.248A>G (p.Asp83Gly) c.326A>G (p.Asp109Gly) | |
| 19 | g.44908544A>T | CA406303636 | APOE | c.248A>T (p.Asp83Val) c.326A>T (p.Asp109Val) |