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.44908773_44908780del | CA2585715442 | APOE | c.477_484del (p.Arg160AlafsTer2) c.555_562del (p.Arg186AlafsTer2) | gnomAD v4 |
19 | g.44908776_44908790del | CA2695228863 | APOE | c.480_494del (p.Lys161_Arg165del) c.558_572del (p.Lys187_Arg191del) | |
19 | g.44908777A>C | CA406304099 | APOE | c.481A>C (p.Lys161Gln) c.559A>C (p.Lys187Gln) | |
19 | g.44908777A>G | CA406304100 | APOE | c.481A>G (p.Lys161Glu) c.559A>G (p.Lys187Glu) | gnomAD v4 |
19 | g.44908777A>T | CA406304101 | APOE | c.481A>T (p.Lys161Ter) c.559A>T (p.Lys187Ter) | gnomAD v4 |
19 | g.44908778A= | CA2338167871 | APOE | c.482A= (p.Lys161=) c.560A= (p.Lys187=) | |
19 | g.44908778A>C | CA406304102 | APOE | c.482A>C (p.Lys161Thr) c.560A>C (p.Lys187Thr) | |
19 | g.44908778A>G | CA406304103 | APOE | c.482A>G (p.Lys161Arg) c.560A>G (p.Lys187Arg) | dbSNP |
19 | g.44908778A>T | CA406304104 | APOE | c.482A>T (p.Lys161Met) c.560A>T (p.Lys187Met) | |
19 | g.44908779G>A | CA507947761 | APOE | c.483G>A (p.Lys161=) c.561G>A (p.Lys187=) | gnomAD v4 |
19 | g.44908779G>C | CA406304105 | APOE | c.483G>C (p.Lys161Asn) c.561G>C (p.Lys187Asn) | |
19 | g.44908779G= | CA2338167872 | APOE | c.483G= (p.Lys161=) c.561G= (p.Lys187=) | |
19 | g.44908779G>T | CA308885740 | APOE | c.483G>T (p.Lys161Asn) c.561G>T (p.Lys187Asn) | dbSNP gnomAD v4 |
19 | g.44908780C>A | CA406304106 | APOE | c.484C>A (p.Leu162Met) c.562C>A (p.Leu188Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908780C= | CA2338167873 | APOE | c.484C= (p.Leu162=) c.562C= (p.Leu188=) | |
19 | g.44908780C>G | CA406304107 | APOE | c.484C>G (p.Leu162Val) c.562C>G (p.Leu188Val) | |
19 | g.44908780C>T | CA507947766 | APOE | c.484C>T (p.Leu162=) c.562C>T (p.Leu188=) | dbSNP gnomAD v4 |
19 | g.44908781T>A | CA406304108 | APOE | c.485T>A (p.Leu162Gln) c.563T>A (p.Leu188Gln) | gnomAD v4 |
19 | g.44908781T>C | CA406304109 | APOE | c.485T>C (p.Leu162Pro) c.563T>C (p.Leu188Pro) | gnomAD v4 |
19 | g.44908781T>G | CA406304110 | APOE | c.485T>G (p.Leu162Arg) c.563T>G (p.Leu188Arg) | gnomAD v4 |
19 | g.44908782G>A | CA308885751 | APOE | c.486G>A (p.Leu162=) c.564G>A (p.Leu188=) | dbSNP gnomAD v4 |
19 | g.44908782G>C | CA507947768 | APOE | c.486G>C (p.Leu162=) c.564G>C (p.Leu188=) | |
19 | g.44908782G= | CA2338167874 | APOE | c.486G= (p.Leu162=) c.564G= (p.Leu188=) | |
19 | g.44908782G>T | CA507947770 | APOE | c.486G>T (p.Leu162=) c.564G>T (p.Leu188=) | gnomAD v4 |
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 |