| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44907842_44907857delinsGCGCTGGGAACTGGCA | CA2338167349 | APOE | c.126_141delinsGCGCTGGGAACTGGCA (p.Gln42=) c.204_219delinsGCGCTGGGAACTGGCA (p.Gln68=) | |
| 19 | g.44907844_44907858del | CA9505982 | APOE | c.128_142del (p.Arg43_Ala47del) c.206_220del (p.Arg69_Ala73del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44907853T>A | CA406303362 | APOE | c.137T>A (p.Leu46Gln) c.215T>A (p.Leu72Gln) | dbSNP |
| 19 | g.44907853T>C | CA041808 | APOE | c.137T>C (p.Leu46Pro) c.215T>C (p.Leu72Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44907853T>C;44908684T>C] | CA041979 | APOE | c.[137T>C;388T>C] (p.[Leu46Pro;Cys130Arg]) c.[215T>C;466T>C] (p.[Leu72Pro;Cys156Arg]) | ClinVar |
| 19 | g.44907853T>G | CA406303360 | APOE | c.137T>G (p.Leu46Arg) c.215T>G (p.Leu72Arg) | |
| 19 | g.44907853T= | CA2338167357 | APOE | c.137T= (p.Leu46=) c.215T= (p.Leu72=) | |
| 19 | g.44907854G>A | CA9505986 | APOE | c.138G>A (p.Leu46=) c.216G>A (p.Leu72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907854G>C | CA507799010 | APOE | c.138G>C (p.Leu46=) c.216G>C (p.Leu72=) | |
| 19 | g.44907854G= | CA2338167358 | APOE | c.138G= (p.Leu46=) c.216G= (p.Leu72=) | |
| 19 | g.44907854G>T | CA507799011 | APOE | c.138G>T (p.Leu46=) c.216G>T (p.Leu72=) | |
| 19 | g.44907855del | CA2585715223 | APOE | c.139del (p.Ala47HisfsTer?) c.217del (p.Ala73HisfsTer?) | gnomAD v4 |
| 19 | g.44907855G>A | CA406303369 | APOE | c.139G>A (p.Ala47Thr) c.217G>A (p.Ala73Thr) | COSMIC |
| 19 | g.44907855G>C | CA406303365 | APOE | c.139G>C (p.Ala47Pro) c.217G>C (p.Ala73Pro) | |
| 19 | g.44907855G>T | CA406303367 | APOE | c.139G>T (p.Ala47Ser) c.217G>T (p.Ala73Ser) | |
| 19 | g.44907856C>A | CA406303371 | APOE | c.140C>A (p.Ala47Glu) c.218C>A (p.Ala73Glu) | |
| 19 | g.44907856C>G | CA406303372 | APOE | c.140C>G (p.Ala47Gly) c.218C>G (p.Ala73Gly) | |
| 19 | g.44907856C>T | CA406303374 | APOE | c.140C>T (p.Ala47Val) c.218C>T (p.Ala73Val) | gnomAD v4 |
| 19 | g.44907857A= | CA2338167359 | APOE | c.141A= (p.Ala47=) c.219A= (p.Ala73=) | |
| 19 | g.44907857A>C | CA507799013 | APOE | c.141A>C (p.Ala47=) c.219A>C (p.Ala73=) | dbSNP |
| 19 | g.44907857A>G | CA507799014 | APOE | c.141A>G (p.Ala47=) c.219A>G (p.Ala73=) | dbSNP gnomAD v4 |
| 19 | g.44907857A>T | CA507799012 | APOE | c.141A>T (p.Ala47=) c.219A>T (p.Ala73=) | |
| 19 | g.44907858C>A | CA406303376 | APOE | c.142C>A (p.Leu48Met) c.220C>A (p.Leu74Met) | |
| 19 | g.44907858C= | CA2338167360 | APOE | c.142C= (p.Leu48=) c.220C= (p.Leu74=) | |
| 19 | g.44907858C>G | CA406303377 | APOE | c.142C>G (p.Leu48Val) c.220C>G (p.Leu74Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44907858C>T | CA507799015 | APOE | c.142C>T (p.Leu48=) c.220C>T (p.Leu74=) | gnomAD v4 |
| 19 | g.44907859T>A | CA406303380 | APOE | c.143T>A (p.Leu48Gln) c.221T>A (p.Leu74Gln) | |
| 19 | g.44907859T>C | CA406303384 | APOE | c.143T>C (p.Leu48Pro) c.221T>C (p.Leu74Pro) | |
| 19 | g.44907859T>G | CA406303382 | APOE | c.143T>G (p.Leu48Arg) c.221T>G (p.Leu74Arg) | |
| 19 | g.44907860G>A | CA507799016 | APOE | c.144G>A (p.Leu48=) c.222G>A (p.Leu74=) | |
| 19 | g.44907860G>C | CA308884536 | APOE | c.144G>C (p.Leu48=) c.222G>C (p.Leu74=) | dbSNP gnomAD v4 |
| 19 | g.44907860G= | CA2338167361 | APOE | c.144G= (p.Leu48=) c.222G= (p.Leu74=) | |
| 19 | g.44907860G>T | CA507799017 | APOE | c.144G>T (p.Leu48=) c.222G>T (p.Leu74=) | |
| 19 | g.44907862del | CA2580097377 | APOE | c.146del (p.Gly49ValfsTer30) c.224del (p.Gly75ValfsTer30) | ClinVar dbSNP |
| 19 | g.44907861G>A | CA406303387 | APOE | c.145G>A (p.Gly49Ser) c.223G>A (p.Gly75Ser) | dbSNP |
| 19 | g.44907861G>C | CA406303389 | APOE | c.145G>C (p.Gly49Arg) c.223G>C (p.Gly75Arg) | |
| 19 | g.44907861G= | CA2338167362 | APOE | c.145G= (p.Gly49=) c.223G= (p.Gly75=) | |
| 19 | g.44907861G>T | CA406303390 | APOE | c.145G>T (p.Gly49Cys) c.223G>T (p.Gly75Cys) | |
| 19 | g.44907862G>A | CA406303392 | APOE | c.146G>A (p.Gly49Asp) c.224G>A (p.Gly75Asp) | dbSNP gnomAD v4 |
| 19 | g.44907862G>C | CA406303396 | APOE | c.146G>C (p.Gly49Ala) c.224G>C (p.Gly75Ala) | |
| 19 | g.44907862G= | CA2338167363 | APOE | c.146G= (p.Gly49=) c.224G= (p.Gly75=) | |
| 19 | g.44907862G>T | CA406303394 | APOE | c.146G>T (p.Gly49Val) c.224G>T (p.Gly75Val) | |
| 19 | g.44907863T>A | CA507799018 | APOE | c.147T>A (p.Gly49=) c.225T>A (p.Gly75=) | |
| 19 | g.44907863T>C | CA507799019 | APOE | c.147T>C (p.Gly49=) c.225T>C (p.Gly75=) | dbSNP |
| 19 | g.44907863T>G | CA507799020 | APOE | c.147T>G (p.Gly49=) c.225T>G (p.Gly75=) | dbSNP |
| 19 | g.44907863T= | CA2338167364 | APOE | c.147T= (p.Gly49=) c.225T= (p.Gly75=) | |
| 19 | g.44907864C>A | CA406303398 | APOE | c.148C>A (p.Arg50Ser) c.226C>A (p.Arg76Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907864C= | CA2338167365 | APOE | c.148C= (p.Arg50=) c.226C= (p.Arg76=) | |
| 19 | g.44907864C>G | CA9505988 | APOE | c.148C>G (p.Arg50Gly) c.226C>G (p.Arg76Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44907864C>T | CA9505987 | APOE | c.148C>T (p.Arg50Cys) c.226C>T (p.Arg76Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |