| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908619_44908651dup | CA633478354 | APOE | c.323_355dup (p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuGlnAlaAla) c.401_433dup (p.Ala144_Gln145insArgAlaArgLeuSerLysGluLeuGlnAlaAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908622C>A | CA406303806 | APOE | c.326C>A (p.Ala109Glu) c.404C>A (p.Ala135Glu) | |
| 19 | g.44908622C= | CA2338167425 | APOE | c.326C= (p.Ala109=) c.404C= (p.Ala135=) | |
| 19 | g.44908622C>G | CA406303807 | APOE | c.326C>G (p.Ala109Gly) c.404C>G (p.Ala135Gly) | |
| 19 | g.44908622C>T | CA406303808 | APOE | c.326C>T (p.Ala109Val) c.404C>T (p.Ala135Val) | dbSNP |
| 19 | g.44908623A= | CA2338167427 | APOE | c.327A= (p.Ala109=) c.405A= (p.Ala135=) | |
| 19 | g.44908623A>C | CA507947424 | APOE | c.327A>C (p.Ala109=) c.405A>C (p.Ala135=) | dbSNP |
| 19 | g.44908623A>G | CA507947425 | APOE | c.327A>G (p.Ala109=) c.405A>G (p.Ala135=) | dbSNP |
| 19 | g.44908623A>T | CA507947427 | APOE | c.327A>T (p.Ala109=) c.405A>T (p.Ala135=) | |
| 19 | g.44908623dup | CA9506040 | APOE | c.327dup (p.Arg110ThrfsTer?) c.405dup (p.Arg136ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908624C>A | CA9506041 | APOE | c.328C>A (p.Arg110=) c.406C>A (p.Arg136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908624C= | CA2338167428 | APOE | c.328C= (p.Arg110=) c.406C= (p.Arg136=) | |
| 19 | g.44908624C>G | CA406303809 | APOE | c.328C>G (p.Arg110Gly) c.406C>G (p.Arg136Gly) | |
| 19 | g.44908624C>T | CA406303810 | APOE | c.328C>T (p.Arg110Trp) c.406C>T (p.Arg136Trp) | |
| 19 | g.44908625G>A | CA9506042 | APOE | c.329G>A (p.Arg110Gln) c.407G>A (p.Arg136Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908625G>C | CA406303812 | APOE | c.329G>C (p.Arg110Pro) c.407G>C (p.Arg136Pro) | gnomAD v4 |
| 19 | g.44908625G= | CA2338167430 | APOE | c.329G= (p.Arg110=) c.407G= (p.Arg136=) | |
| 19 | g.44908625G>T | CA406303811 | APOE | c.329G>T (p.Arg110Leu) c.407G>T (p.Arg136Leu) | gnomAD v4 |
| 19 | g.44908626G>A | CA507947430 | APOE | c.330G>A (p.Arg110=) c.408G>A (p.Arg136=) | dbSNP gnomAD v2 |
| 19 | g.44908626G>C | CA507947431 | APOE | c.330G>C (p.Arg110=) c.408G>C (p.Arg136=) | dbSNP |
| 19 | g.44908626G= | CA2338167432 | APOE | c.330G= (p.Arg110=) c.408G= (p.Arg136=) | |
| 19 | g.44908626G>T | CA507947433 | APOE | c.330G>T (p.Arg110=) c.408G>T (p.Arg136=) | |
| 19 | g.44908628_44908642del | CA2576812054 | APOE | c.332_346del (p.Leu111_Leu115del) c.410_424del (p.Leu137_Leu141del) | gnomAD v4 |
| 19 | g.44908627C>A | CA406303813 | APOE | c.331C>A (p.Leu111Met) c.409C>A (p.Leu137Met) | |
| 19 | g.44908627C>G | CA406303814 | APOE | c.331C>G (p.Leu111Val) c.409C>G (p.Leu137Val) | |
| 19 | g.44908627C>T | CA507947436 | APOE | c.331C>T (p.Leu111=) c.409C>T (p.Leu137=) | |
| 19 | g.44908628T>A | CA406303815 | APOE | c.332T>A (p.Leu111Gln) c.410T>A (p.Leu137Gln) | |
| 19 | g.44908628T>C | CA406303816 | APOE | c.332T>C (p.Leu111Pro) c.410T>C (p.Leu137Pro) | gnomAD v4 |
| 19 | g.44908628T>G | CA406303817 | APOE | c.332T>G (p.Leu111Arg) c.410T>G (p.Leu137Arg) | |
| 19 | g.44908629G>A | CA507947438 | APOE | c.333G>A (p.Leu111=) c.411G>A (p.Leu137=) | |
| 19 | g.44908629G>C | CA507947439 | APOE | c.333G>C (p.Leu111=) c.411G>C (p.Leu137=) | |
| 19 | g.44908629G>T | CA507947437 | APOE | c.333G>T (p.Leu111=) c.411G>T (p.Leu137=) | |
| 19 | g.44908630T>A | CA406303818 | APOE | c.334T>A (p.Ser112Thr) c.412T>A (p.Ser138Thr) | |
| 19 | g.44908630T>C | CA406303820 | APOE | c.334T>C (p.Ser112Pro) c.412T>C (p.Ser138Pro) | |
| 19 | g.44908630T>G | CA406303819 | APOE | c.334T>G (p.Ser112Ala) c.412T>G (p.Ser138Ala) | |
| 19 | g.44908631C>A | CA9506043 | APOE | c.335C>A (p.Ser112Tyr) c.413C>A (p.Ser138Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908631C= | CA2338167433 | APOE | c.335C= (p.Ser112=) c.413C= (p.Ser138=) | |
| 19 | g.44908631C>G | CA406303821 | APOE | c.335C>G (p.Ser112Cys) c.413C>G (p.Ser138Cys) | |
| 19 | g.44908631C>T | CA406303822 | APOE | c.335C>T (p.Ser112Phe) c.413C>T (p.Ser138Phe) | dbSNP gnomAD v4 |
| 19 | g.44908632C>A | CA308885323 | APOE | c.336C>A (p.Ser112=) c.414C>A (p.Ser138=) | dbSNP |
| 19 | g.44908632C= | CA2338167436 | APOE | c.336C= (p.Ser112=) c.414C= (p.Ser138=) | |
| 19 | g.44908632C>G | CA507947441 | APOE | c.336C>G (p.Ser112=) c.414C>G (p.Ser138=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908632C>T | CA507947442 | APOE | c.336C>T (p.Ser112=) c.414C>T (p.Ser138=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908633A= | CA2338167440 | APOE | c.337A= (p.Lys113=) c.415A= (p.Lys139=) | |
| 19 | g.44908633A>C | CA406303823 | APOE | c.337A>C (p.Lys113Gln) c.415A>C (p.Lys139Gln) | |
| 19 | g.44908633A>G | CA9506044 | APOE | c.337A>G (p.Lys113Glu) c.415A>G (p.Lys139Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908633A>T | CA406303824 | APOE | c.337A>T (p.Lys113Ter) c.415A>T (p.Lys139Ter) | |
| 19 | g.44908634A= | CA2338167442 | APOE | c.338A= (p.Lys113=) c.416A= (p.Lys139=) | |
| 19 | g.44908634A>C | CA406303825 | APOE | c.338A>C (p.Lys113Thr) c.416A>C (p.Lys139Thr) | dbSNP |
| 19 | g.44908634A>G | CA406303826 | APOE | c.338A>G (p.Lys113Arg) c.416A>G (p.Lys139Arg) | gnomAD v4 |