| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44909020del | CA2695228871 | APOE | c.724del (p.Arg242GlyfsTer9) c.802del (p.Arg268GlyfsTer?) c.802del (p.Arg268GlyfsTer9) | |
| 19 | g.44909019_44909059delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG | CA2338168020 | APOE | c.723_763delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG (p.Ser241=) c.801_841delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG (p.Ser267=) | |
| 19 | g.44909020C>A | CA507947695 | APOE | c.724C>A (p.Arg242=) c.802C>A (p.Arg268=) | dbSNP gnomAD v4 |
| 19 | g.44909020C= | CA2338168021 | APOE | c.724C= (p.Arg242=) c.802C= (p.Arg268=) | |
| 19 | g.44909020C>G | CA308885969 | APOE | c.724C>G (p.Arg242Gly) c.802C>G (p.Arg268Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909020C>T | CA406304858 | APOE | c.724C>T (p.Arg242Trp) c.802C>T (p.Arg268Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909024_44909063del | CA633478463 | APOE | c.728_767del (p.Thr243ArgfsTer?) c.806_845del (p.Thr269ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909021G>A | CA041342 | APOE | c.725G>A (p.Arg242Gln) c.803G>A (p.Arg268Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909021G>C | CA9506089 | APOE | c.725G>C (p.Arg242Pro) c.803G>C (p.Arg268Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909021G= | CA2338168022 | APOE | c.725G= (p.Arg242=) c.803G= (p.Arg268=) | |
| 19 | g.44909021G>T | CA406304860 | APOE | c.725G>T (p.Arg242Leu) c.803G>T (p.Arg268Leu) | gnomAD v4 |
| 19 | g.44909025_44909040del | CA2585715458 | APOE | c.729_744del (p.Asp245Ter) c.807_822del (p.Asp271Ter) | gnomAD v4 |
| 19 | g.44909022G>A | CA507947700 | APOE | c.726G>A (p.Arg242=) c.804G>A (p.Arg268=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909022G>C | CA507947703 | APOE | c.726G>C (p.Arg242=) c.804G>C (p.Arg268=) | |
| 19 | g.44909022G= | CA2338168023 | APOE | c.726G= (p.Arg242=) c.804G= (p.Arg268=) | |
| 19 | g.44909022G>T | CA507947702 | APOE | c.726G>T (p.Arg242=) c.804G>T (p.Arg268=) | gnomAD v4 |
| 19 | g.44909023A= | CA2338168024 | APOE | c.727A= (p.Thr243=) c.805A= (p.Thr269=) | |
| 19 | g.44909023A>C | CA406304867 | APOE | c.727A>C (p.Thr243Pro) c.805A>C (p.Thr269Pro) | gnomAD v4 |
| 19 | g.44909023A>G | CA406304862 | APOE | c.727A>G (p.Thr243Ala) c.805A>G (p.Thr269Ala) | gnomAD v4 |
| 19 | g.44909023A>T | CA406304865 | APOE | c.727A>T (p.Thr243Ser) c.805A>T (p.Thr269Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909024C>A | CA406304869 | APOE | c.728C>A (p.Thr243Asn) c.806C>A (p.Thr269Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909024C= | CA2338168025 | APOE | c.728C= (p.Thr243=) c.806C= (p.Thr269=) | |
| 19 | g.44909024C>G | CA406304872 | APOE | c.728C>G (p.Thr243Ser) c.806C>G (p.Thr269Ser) | |
| 19 | g.44909024C>T | CA406304875 | APOE | c.728C>T (p.Thr243Ile) c.806C>T (p.Thr269Ile) | gnomAD v4 |
| 19 | g.44909026del | CA2585715459 | APOE | c.730del (p.Arg244AlafsTer7) c.808del (p.Arg270AlafsTer7) | gnomAD v4 |
| 19 | g.44909025C>A | CA507947707 | APOE | c.729C>A (p.Thr243=) c.807C>A (p.Thr269=) | |
| 19 | g.44909025C= | CA2338168026 | APOE | c.729C= (p.Thr243=) c.807C= (p.Thr269=) | |
| 19 | g.44909025C>G | CA507947708 | APOE | c.729C>G (p.Thr243=) c.807C>G (p.Thr269=) | dbSNP |
| 19 | g.44909025C>T | CA507947709 | APOE | c.729C>T (p.Thr243=) c.807C>T (p.Thr269=) | dbSNP gnomAD v4 |
| 19 | g.44909026C>A | CA406304881 | APOE | c.730C>A (p.Arg244Ser) c.808C>A (p.Arg270Ser) | |
| 19 | g.44909026C= | CA2338168027 | APOE | c.730C= (p.Arg244=) c.808C= (p.Arg270=) | |
| 19 | g.44909026C>G | CA406304879 | APOE | c.730C>G (p.Arg244Gly) c.808C>G (p.Arg270Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909026C>T | CA406304877 | APOE | c.730C>T (p.Arg244Cys) c.808C>T (p.Arg270Cys) | |
| 19 | g.44909027G>A | CA406304882 | APOE | c.731G>A (p.Arg244His) c.809G>A (p.Arg270His) | dbSNP gnomAD v4 |
| 19 | g.44909027G>C | CA406304886 | APOE | c.731G>C (p.Arg244Pro) c.809G>C (p.Arg270Pro) | |
| 19 | g.44909027G>T | CA406304887 | APOE | c.731G>T (p.Arg244Leu) c.809G>T (p.Arg270Leu) | gnomAD v4 COSMIC |
| 19 | g.44909028C>A | CA507947710 | APOE | c.732C>A (p.Arg244=) c.810C>A (p.Arg270=) | gnomAD v4 |
| 19 | g.44909028C>G | CA507947713 | APOE | c.732C>G (p.Arg244=) c.810C>G (p.Arg270=) | |
| 19 | g.44909028C>T | CA507947711 | APOE | c.732C>T (p.Arg244=) c.810C>T (p.Arg270=) | gnomAD v4 |
| 19 | g.44909029G>A | CA406304889 | APOE | c.733G>A (p.Asp245Asn) c.811G>A (p.Asp271Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909029G>C | CA406304892 | APOE | c.733G>C (p.Asp245His) c.811G>C (p.Asp271His) | gnomAD v4 |
| 19 | g.44909029G= | CA2338168028 | APOE | c.733G= (p.Asp245=) c.811G= (p.Asp271=) | |
| 19 | g.44909029G>T | CA406304894 | APOE | c.733G>T (p.Asp245Tyr) c.811G>T (p.Asp271Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909030A>C | CA406304899 | APOE | c.734A>C (p.Asp245Ala) c.812A>C (p.Asp271Ala) | |
| 19 | g.44909030A>G | CA406304895 | APOE | c.734A>G (p.Asp245Gly) c.812A>G (p.Asp271Gly) | |
| 19 | g.44909030A>T | CA406304896 | APOE | c.734A>T (p.Asp245Val) c.812A>T (p.Asp271Val) | |
| 19 | g.44909031C>A | CA406304900 | APOE | c.735C>A (p.Asp245Glu) c.813C>A (p.Asp271Glu) | |
| 19 | g.44909031C= | CA2338168029 | APOE | c.735C= (p.Asp245=) c.813C= (p.Asp271=) | |
| 19 | g.44909031C>G | CA406304902 | APOE | c.735C>G (p.Asp245Glu) c.813C>G (p.Asp271Glu) | |
| 19 | g.44909031C>T | CA507947718 | APOE | c.735C>T (p.Asp245=) c.813C>T (p.Asp271=) | dbSNP gnomAD v2 gnomAD v4 |