| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908711_44908731dup | CA127504 | APOE | c.415_435dup (p.Gly145_Gln146insGluValGlnAlaMetLeuGly) c.493_513dup (p.Gly171_Gln172insGluValGlnAlaMetLeuGly) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908724T>A | CA406304005 | APOE | c.428T>A (p.Met143Lys) c.506T>A (p.Met169Lys) | |
| 19 | g.44908724T>C | CA406304006 | APOE | c.428T>C (p.Met143Thr) c.506T>C (p.Met169Thr) | gnomAD v4 |
| 19 | g.44908724T>G | CA406304007 | APOE | c.428T>G (p.Met143Arg) c.506T>G (p.Met169Arg) | |
| 19 | g.44908725G>A | CA406304008 | APOE | c.429G>A (p.Met143Ile) c.507G>A (p.Met169Ile) | gnomAD v4 COSMIC |
| 19 | g.44908725G>C | CA406304009 | APOE | c.429G>C (p.Met143Ile) c.507G>C (p.Met169Ile) | |
| 19 | g.44908725G>T | CA406304010 | APOE | c.429G>T (p.Met143Ile) c.507G>T (p.Met169Ile) | |
| 19 | g.44908726C>A | CA406304013 | APOE | c.430C>A (p.Leu144Ile) c.508C>A (p.Leu170Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908726C= | CA2338167634 | APOE | c.430C= (p.Leu144=) c.508C= (p.Leu170=) | |
| 19 | g.44908726C>G | CA406304011 | APOE | c.430C>G (p.Leu144Val) c.508C>G (p.Leu170Val) | |
| 19 | g.44908726C>T | CA406304012 | APOE | c.430C>T (p.Leu144Phe) c.508C>T (p.Leu170Phe) | gnomAD v4 |
| 19 | g.44908727T>A | CA406304014 | APOE | c.431T>A (p.Leu144His) c.509T>A (p.Leu170His) | |
| 19 | g.44908727T>C | CA406304015 | APOE | c.431T>C (p.Leu144Pro) c.509T>C (p.Leu170Pro) | |
| 19 | g.44908727T>G | CA406304016 | APOE | c.431T>G (p.Leu144Arg) c.509T>G (p.Leu170Arg) | gnomAD v4 |
| 19 | g.44908728C>A | CA507947634 | APOE | c.432C>A (p.Leu144=) c.510C>A (p.Leu170=) | gnomAD v4 |
| 19 | g.44908728C= | CA2338167640 | APOE | c.432C= (p.Leu144=) c.510C= (p.Leu170=) | |
| 19 | g.44908728C>G | CA507947635 | APOE | c.432C>G (p.Leu144=) c.510C>G (p.Leu170=) | gnomAD v4 |
| 19 | g.44908728C>T | CA507947637 | APOE | c.432C>T (p.Leu144=) c.510C>T (p.Leu170=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908729G>A | CA9506065 | APOE | c.433G>A (p.Gly145Ser) c.511G>A (p.Gly171Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908729G>C | CA406304017 | APOE | c.433G>C (p.Gly145Arg) c.511G>C (p.Gly171Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908729G= | CA2338167645 | APOE | c.433G= (p.Gly145=) c.511G= (p.Gly171=) | |
| 19 | g.44908729G>T | CA308885595 | APOE | c.433G>T (p.Gly145Cys) c.511G>T (p.Gly171Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908730G>A | CA041273 | APOE | c.434G>A (p.Gly145Asp) c.512G>A (p.Gly171Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44908730G>A;44908822C>T] | CA041311 | APOE | c.[434G>A;526C>T] (p.[Gly145Asp;Arg176Cys]) c.[512G>A;604C>T] (p.[Gly171Asp;Arg202Cys]) | ClinVar |
| 19 | g.44908730G>C | CA406304018 | APOE | c.434G>C (p.Gly145Ala) c.512G>C (p.Gly171Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908730G= | CA2338167652 | APOE | c.434G= (p.Gly145=) c.512G= (p.Gly171=) | |
| 19 | g.44908730G>T | CA406304019 | APOE | c.434G>T (p.Gly145Val) c.512G>T (p.Gly171Val) | gnomAD v4 |
| 19 | g.44908731C>A | CA507947643 | APOE | c.435C>A (p.Gly145=) c.513C>A (p.Gly171=) | gnomAD v4 |
| 19 | g.44908731C= | CA2338167657 | APOE | c.435C= (p.Gly145=) c.513C= (p.Gly171=) | |
| 19 | g.44908731C>G | CA507947646 | APOE | c.435C>G (p.Gly145=) c.513C>G (p.Gly171=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908731C>T | CA507947644 | APOE | c.435C>T (p.Gly145=) c.513C>T (p.Gly171=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908732C>A | CA406304020 | APOE | c.436C>A (p.Gln146Lys) c.514C>A (p.Gln172Lys) | gnomAD v4 |
| 19 | g.44908732C= | CA2338167659 | APOE | c.436C= (p.Gln146=) c.514C= (p.Gln172=) | |
| 19 | g.44908732C>G | CA406304021 | APOE | c.436C>G (p.Gln146Glu) c.514C>G (p.Gln172Glu) | |
| 19 | g.44908732C>T | CA406304022 | APOE | c.436C>T (p.Gln146Ter) c.514C>T (p.Gln172Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908733A= | CA2338167661 | APOE | c.437A= (p.Gln146=) c.515A= (p.Gln172=) | |
| 19 | g.44908733A>C | CA406304023 | APOE | c.437A>C (p.Gln146Pro) c.515A>C (p.Gln172Pro) | |
| 19 | g.44908733A>G | CA406304025 | APOE | c.437A>G (p.Gln146Arg) c.515A>G (p.Gln172Arg) | gnomAD v4 |
| 19 | g.44908733A>T | CA406304024 | APOE | c.437A>T (p.Gln146Leu) c.515A>T (p.Gln172Leu) | |
| 19 | g.44908734G>A | CA507947653 | APOE | c.438G>A (p.Gln146=) c.516G>A (p.Gln172=) | gnomAD v4 |
| 19 | g.44908734G>C | CA406304026 | APOE | c.438G>C (p.Gln146His) c.516G>C (p.Gln172His) | |
| 19 | g.44908734G>T | CA406304027 | APOE | c.438G>T (p.Gln146His) c.516G>T (p.Gln172His) | gnomAD v4 |
| 19 | g.44908737_44908743dup | CA882663992 | APOE | c.441_447dup (p.Glu150HisfsTer17) c.519_525dup (p.Glu176HisfsTer17) | dbSNP |
| 19 | g.44908735A>C | CA406304028 | APOE | c.439A>C (p.Ser147Arg) c.517A>C (p.Ser173Arg) | |
| 19 | g.44908735A>G | CA406304029 | APOE | c.439A>G (p.Ser147Gly) c.517A>G (p.Ser173Gly) | |
| 19 | g.44908735A>T | CA406304030 | APOE | c.439A>T (p.Ser147Cys) c.517A>T (p.Ser173Cys) | |
| 19 | g.44908736G>A | CA406304031 | APOE | c.440G>A (p.Ser147Asn) c.518G>A (p.Ser173Asn) | gnomAD v4 COSMIC |
| 19 | g.44908736G>C | CA406304032 | APOE | c.440G>C (p.Ser147Thr) c.518G>C (p.Ser173Thr) | gnomAD v4 |
| 19 | g.44908736G>T | CA406304033 | APOE | c.440G>T (p.Ser147Ile) c.518G>T (p.Ser173Ile) | gnomAD v4 |
| 19 | g.44908737C>A | CA406304034 | APOE | c.441C>A (p.Ser147Arg) c.519C>A (p.Ser173Arg) | gnomAD v4 |