| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908776_44908784del | CA2580097378 | APOE | c.480_488del (p.Lys161_Arg163del) c.558_566del (p.Lys187_Arg189del) | ClinVar |
| 19 | g.44908776_44908790del | CA2695228863 | APOE | c.480_494del (p.Lys161_Arg165del) c.558_572del (p.Lys187_Arg191del) | |
| 19 | g.44908783C>A | CA406304111 | APOE | c.487C>A (p.Arg163Ser) c.565C>A (p.Arg189Ser) | gnomAD v4 |
| 19 | g.44908783C= | CA2338167875 | APOE | c.487C= (p.Arg163=) c.565C= (p.Arg189=) | |
| 19 | g.44908783C>G | CA406304112 | APOE | c.487C>G (p.Arg163Gly) c.565C>G (p.Arg189Gly) | |
| 19 | g.44908783C>T | CA127502 | APOE | c.487C>T (p.Arg163Cys) c.565C>T (p.Arg189Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908784G>A | CA127513 | APOE | c.488G>A (p.Arg163His) c.566G>A (p.Arg189His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908784G>C | CA127524 | APOE | c.488G>C (p.Arg163Pro) c.566G>C (p.Arg189Pro) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908784G= | CA2338167876 | APOE | c.488G= (p.Arg163=) c.566G= (p.Arg189=) | |
| 19 | g.44908784G>T | CA406304113 | APOE | c.488G>T (p.Arg163Leu) c.566G>T (p.Arg189Leu) | ClinVar dbSNP |
| 19 | g.44908785T>A | CA507947774 | APOE | c.489T>A (p.Arg163=) c.567T>A (p.Arg189=) | dbSNP gnomAD v4 |
| 19 | g.44908785T>C | CA507947775 | APOE | c.489T>C (p.Arg163=) c.567T>C (p.Arg189=) | dbSNP gnomAD v4 |
| 19 | g.44908785T>G | CA507947776 | APOE | c.489T>G (p.Arg163=) c.567T>G (p.Arg189=) | ClinVar |
| 19 | g.44908785T= | CA2338167877 | APOE | c.489T= (p.Arg163=) c.567T= (p.Arg189=) | |
| 19 | g.44908786A= | CA2338167878 | APOE | c.490A= (p.Lys164=) c.568A= (p.Lys190=) | |
| 19 | g.44908786A>C | CA127507 | APOE | c.490A>C (p.Lys164Gln) c.568A>C (p.Lys190Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908786A>G | CA127506 | APOE | c.490A>G (p.Lys164Glu) c.568A>G (p.Lys190Glu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908786A>T | CA406304114 | APOE | c.490A>T (p.Lys164Ter) c.568A>T (p.Lys190Ter) | |
| 19 | g.44908787A>C | CA406304115 | APOE | c.491A>C (p.Lys164Thr) c.569A>C (p.Lys190Thr) | |
| 19 | g.44908787A>G | CA406304116 | APOE | c.491A>G (p.Lys164Arg) c.569A>G (p.Lys190Arg) | gnomAD v4 |
| 19 | g.44908787A>T | CA406304117 | APOE | c.491A>T (p.Lys164Met) c.569A>T (p.Lys190Met) | |
| 19 | g.44908788G>A | CA507947781 | APOE | c.492G>A (p.Lys164=) c.570G>A (p.Lys190=) | dbSNP gnomAD v2 |
| 19 | g.44908788G>C | CA406304118 | APOE | c.492G>C (p.Lys164Asn) c.570G>C (p.Lys190Asn) | |
| 19 | g.44908788G= | CA2338167879 | APOE | c.492G= (p.Lys164=) c.570G= (p.Lys190=) | |
| 19 | g.44908788G>T | CA406304119 | APOE | c.492G>T (p.Lys164Asn) c.570G>T (p.Lys190Asn) | gnomAD v4 |
| 19 | g.44908788_44908789delinsCT | CA2695228864 | APOE | c.492_493delinsCT (p.Lys164_Arg165delinsAsnTrp) c.570_571delinsCT (p.Lys190_Arg191delinsAsnTrp) | |
| 19 | g.44908789C>A | CA507947782 | APOE | c.493C>A (p.Arg165=) c.571C>A (p.Arg191=) | gnomAD v4 |
| 19 | g.44908789C= | CA2338167880 | APOE | c.493C= (p.Arg165=) c.571C= (p.Arg191=) | |
| 19 | g.44908789C>G | CA406304120 | APOE | c.493C>G (p.Arg165Gly) c.571C>G (p.Arg191Gly) | |
| 19 | g.44908789C>T | CA406304121 | APOE | c.493C>T (p.Arg165Trp) c.571C>T (p.Arg191Trp) | dbSNP gnomAD v4 |
| 19 | g.44908790G>A | CA406304122 | APOE | c.494G>A (p.Arg165Gln) c.572G>A (p.Arg191Gln) | gnomAD v4 |
| 19 | g.44908790G>C | CA406304123 | APOE | c.494G>C (p.Arg165Pro) c.572G>C (p.Arg191Pro) | ClinVar dbSNP |
| 19 | g.44908790G= | CA2338167881 | APOE | c.494G= (p.Arg165=) c.572G= (p.Arg191=) | |
| 19 | g.44908790G>T | CA406304124 | APOE | c.494G>T (p.Arg165Leu) c.572G>T (p.Arg191Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908790_44908794delinsGGCTC | CA2338167882 | APOE | c.494_498delinsGGCTC (p.Arg165=) c.572_576delinsGGCTC (p.Arg191=) | |
| 19 | g.44908791G>A | CA507947787 | APOE | c.495G>A (p.Arg165=) c.573G>A (p.Arg191=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908791G>C | CA507947788 | APOE | c.495G>C (p.Arg165=) c.573G>C (p.Arg191=) | gnomAD v4 |
| 19 | g.44908791G= | CA2338167883 | APOE | c.495G= (p.Arg165=) c.573G= (p.Arg191=) | |
| 19 | g.44908791G>T | CA507947789 | APOE | c.495G>T (p.Arg165=) c.573G>T (p.Arg191=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908791_44908794del | CA920117296 | APOE | c.495_498del (p.Leu166SerfsTer?) c.573_576del (p.Leu192SerfsTer?) | dbSNP |
| 19 | g.44908791_44908794delinsGCTC | CA2338167884 | APOE | c.495_498delinsGCTC (p.Arg165=) c.573_576delinsGCTC (p.Arg191=) | |
| 19 | g.44908792C>A | CA406304126 | APOE | c.496C>A (p.Leu166Ile) c.574C>A (p.Leu192Ile) | gnomAD v4 |
| 19 | g.44908792C>G | CA406304125 | APOE | c.496C>G (p.Leu166Val) c.574C>G (p.Leu192Val) | |
| 19 | g.44908792C>T | CA406304127 | APOE | c.496C>T (p.Leu166Phe) c.574C>T (p.Leu192Phe) | gnomAD v4 |
| 19 | g.44908796_44908798del | CA347779 | APOE | c.500_502del (p.Leu167del) c.578_580del (p.Leu193del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908793T>A | CA406304128 | APOE | c.497T>A (p.Leu166His) c.575T>A (p.Leu192His) | |
| 19 | g.44908793T>C | CA406304129 | APOE | c.497T>C (p.Leu166Pro) c.575T>C (p.Leu192Pro) | dbSNP gnomAD v4 |
| 19 | g.44908793T>G | CA406304130 | APOE | c.497T>G (p.Leu166Arg) c.575T>G (p.Leu192Arg) | |
| 19 | g.44908794C>A | CA507947795 | APOE | c.498C>A (p.Leu166=) c.576C>A (p.Leu192=) | gnomAD v4 |
| 19 | g.44908794C= | CA2338167885 | APOE | c.498C= (p.Leu166=) c.576C= (p.Leu192=) |