| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44907777G>A | CA127499 | APOE | c.61G>A (p.Glu21Lys) c.139G>A (p.Glu47Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44907777G>A;44907807G>A] | CA041464 | APOE | c.[61G>A;91G>A] (p.[Glu21Lys;Glu31Lys]) c.[139G>A;169G>A] (p.[Glu47Lys;Glu57Lys]) | |
| 19 | g.44907777G>C | CA406302399 | APOE | c.61G>C (p.Glu21Gln) c.139G>C (p.Glu47Gln) | |
| 19 | g.44907777G= | CA2338167320 | APOE | c.61G= (p.Glu21=) c.139G= (p.Glu47=) | |
| 19 | g.44907777G>T | CA406302400 | APOE | c.61G>T (p.Glu21Ter) c.139G>T (p.Glu47Ter) | gnomAD v4 |
| 19 | g.44907778A>C | CA406302402 | APOE | c.62A>C (p.Glu21Ala) c.140A>C (p.Glu47Ala) | |
| 19 | g.44907778A>G | CA406302403 | APOE | c.62A>G (p.Glu21Gly) c.140A>G (p.Glu47Gly) | |
| 19 | g.44907778A>T | CA406302401 | APOE | c.62A>T (p.Glu21Val) c.140A>T (p.Glu47Val) | |
| 19 | g.44907779G>A | CA9505968 | APOE | c.63G>A (p.Glu21=) c.141G>A (p.Glu47=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44907779G>C | CA406302404 | APOE | c.63G>C (p.Glu21Asp) c.141G>C (p.Glu47Asp) | |
| 19 | g.44907779G= | CA2338167321 | APOE | c.63G= (p.Glu21=) c.141G= (p.Glu47=) | |
| 19 | g.44907779G>T | CA406302405 | APOE | c.63G>T (p.Glu21Asp) c.141G>T (p.Glu47Asp) | gnomAD v4 |
| 19 | g.44907780C>A | CA406302406 | APOE | c.64C>A (p.Gln22Lys) c.142C>A (p.Gln48Lys) | |
| 19 | g.44907780C= | CA2338167322 | APOE | c.64C= (p.Gln22=) c.142C= (p.Gln48=) | |
| 19 | g.44907780C>G | CA406302407 | APOE | c.64C>G (p.Gln22Glu) c.142C>G (p.Gln48Glu) | |
| 19 | g.44907780C>T | CA406302408 | APOE | c.64C>T (p.Gln22Ter) c.142C>T (p.Gln48Ter) | dbSNP |
| 19 | g.44907781A>C | CA406302409 | APOE | c.65A>C (p.Gln22Pro) c.143A>C (p.Gln48Pro) | |
| 19 | g.44907781A>G | CA406302410 | APOE | c.65A>G (p.Gln22Arg) c.143A>G (p.Gln48Arg) | |
| 19 | g.44907781A>T | CA406302411 | APOE | c.65A>T (p.Gln22Leu) c.143A>T (p.Gln48Leu) | |
| 19 | g.44907782A= | CA2338167323 | APOE | c.66A= (p.Gln22=) c.144A= (p.Gln48=) | |
| 19 | g.44907782A>C | CA406302412 | APOE | c.66A>C (p.Gln22His) c.144A>C (p.Gln48His) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44907782A>G | CA507798948 | APOE | c.66A>G (p.Gln22=) c.144A>G (p.Gln48=) | |
| 19 | g.44907782A>T | CA406302413 | APOE | c.66A>T (p.Gln22His) c.144A>T (p.Gln48His) | |
| 19 | g.44907783G>A | CA406302414 | APOE | c.67G>A (p.Ala23Thr) c.145G>A (p.Ala49Thr) | gnomAD v4 |
| 19 | g.44907783G>C | CA406302415 | APOE | c.67G>C (p.Ala23Pro) c.145G>C (p.Ala49Pro) | |
| 19 | g.44907783G>T | CA406302416 | APOE | c.67G>T (p.Ala23Ser) c.145G>T (p.Ala49Ser) | |
| 19 | g.44907784C>A | CA406302417 | APOE | c.68C>A (p.Ala23Glu) c.146C>A (p.Ala49Glu) | gnomAD v4 |
| 19 | g.44907784C= | CA2338167324 | APOE | c.68C= (p.Ala23=) c.146C= (p.Ala49=) | |
| 19 | g.44907784C>G | CA406302418 | APOE | c.68C>G (p.Ala23Gly) c.146C>G (p.Ala49Gly) | gnomAD v4 |
| 19 | g.44907784C>T | CA9505969 | APOE | c.68C>T (p.Ala23Val) c.146C>T (p.Ala49Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907785G>A | CA9505970 | APOE | c.69G>A (p.Ala23=) c.147G>A (p.Ala49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907785G>C | CA507798951 | APOE | c.69G>C (p.Ala23=) c.147G>C (p.Ala49=) | |
| 19 | g.44907785G= | CA2338167325 | APOE | c.69G= (p.Ala23=) c.147G= (p.Ala49=) | |
| 19 | g.44907785G>T | CA507798950 | APOE | c.69G>T (p.Ala23=) c.147G>T (p.Ala49=) | |
| 19 | g.44907786G>A | CA406302419 | APOE | c.70G>A (p.Val24Met) c.148G>A (p.Val50Met) | dbSNP gnomAD v4 |
| 19 | g.44907786G>C | CA406302420 | APOE | c.70G>C (p.Val24Leu) c.148G>C (p.Val50Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44907786G= | CA2338167326 | APOE | c.70G= (p.Val24=) c.148G= (p.Val50=) | |
| 19 | g.44907786G>T | CA406302421 | APOE | c.70G>T (p.Val24Leu) c.148G>T (p.Val50Leu) | COSMIC |
| 19 | g.44907787T>A | CA406302422 | APOE | c.71T>A (p.Val24Glu) c.149T>A (p.Val50Glu) | |
| 19 | g.44907787T>C | CA406302423 | APOE | c.71T>C (p.Val24Ala) c.149T>C (p.Val50Ala) | |
| 19 | g.44907787T>G | CA406302424 | APOE | c.71T>G (p.Val24Gly) c.149T>G (p.Val50Gly) | dbSNP |
| 19 | g.44907787T= | CA2338167327 | APOE | c.71T= (p.Val24=) c.149T= (p.Val50=) | |
| 19 | g.44907788G>A | CA507798955 | APOE | c.72G>A (p.Val24=) c.150G>A (p.Val50=) | dbSNP |
| 19 | g.44907788G>C | CA507798956 | APOE | c.72G>C (p.Val24=) c.150G>C (p.Val50=) | |
| 19 | g.44907788G= | CA2338167328 | APOE | c.72G= (p.Val24=) c.150G= (p.Val50=) | |
| 19 | g.44907788G>T | CA507798957 | APOE | c.72G>T (p.Val24=) c.150G>T (p.Val50=) | |
| 19 | g.44907792_44907803dup | CA9505971 | APOE | c.76_87dup (p.Glu29_Pro30insThrGluProGlu) c.154_165dup (p.Glu55_Pro56insThrGluProGlu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907789G>A | CA406302425 | APOE | c.73G>A (p.Glu25Lys) c.151G>A (p.Glu51Lys) | dbSNP |
| 19 | g.44907789G>C | CA406302426 | APOE | c.73G>C (p.Glu25Gln) c.151G>C (p.Glu51Gln) | |
| 19 | g.44907789G= | CA2338167329 | APOE | c.73G= (p.Glu25=) c.151G= (p.Glu51=) |