Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908988G>A | CA406304711 | APOE | c.692G>A (p.Arg231Gln) c.770G>A (p.Arg257Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908988G>C | CA406304713 | APOE | c.692G>C (p.Arg231Pro) c.770G>C (p.Arg257Pro) | |
19 | g.44908988G= | CA2338167996 | APOE | c.692G= (p.Arg231=) c.770G= (p.Arg257=) | |
19 | g.44908988G>T | CA406304716 | APOE | c.692G>T (p.Arg231Leu) c.770G>T (p.Arg257Leu) | ClinVar gnomAD v4 |
19 | g.44908989G>A | CA507947620 | APOE | c.693G>A (p.Arg231=) c.771G>A (p.Arg257=) | gnomAD v4 |
19 | g.44908989G>C | CA507947618 | APOE | c.693G>C (p.Arg231=) c.771G>C (p.Arg257=) | |
19 | g.44908989G>T | CA507947617 | APOE | c.693G>T (p.Arg231=) c.771G>T (p.Arg257=) | gnomAD v4 |
19 | g.44908990C>A | CA406304718 | APOE | c.694C>A (p.Leu232Met) c.772C>A (p.Leu258Met) | gnomAD v4 |
19 | g.44908990C>G | CA406304721 | APOE | c.694C>G (p.Leu232Val) c.772C>G (p.Leu258Val) | |
19 | g.44908990C>T | CA507947626 | APOE | c.694C>T (p.Leu232=) c.772C>T (p.Leu258=) | gnomAD v4 |
19 | g.44908991T>A | CA406304723 | APOE | c.695T>A (p.Leu232Gln) c.773T>A (p.Leu258Gln) | |
19 | g.44908991T>C | CA406304726 | APOE | c.695T>C (p.Leu232Pro) c.773T>C (p.Leu258Pro) | |
19 | g.44908991T>G | CA406304728 | APOE | c.695T>G (p.Leu232Arg) c.773T>G (p.Leu258Arg) | |
19 | g.44908991T= | CA2338167997 | APOE | c.695T= (p.Leu232=) c.773T= (p.Leu258=) | |
19 | g.44908992G>A | CA507947631 | APOE | c.696G>A (p.Leu232=) c.774G>A (p.Leu258=) | gnomAD v4 |
19 | g.44908992G>C | CA507947629 | APOE | c.696G>C (p.Leu232=) c.774G>C (p.Leu258=) | |
19 | g.44908992G>T | CA507947628 | APOE | c.696G>T (p.Leu232=) c.774G>T (p.Leu258=) | gnomAD v4 |
19 | g.44908999_44909000dup | CA882664505 | APOE | c.703_704dup (p.Met236GlyfsTer16) c.781_782dup (p.Met262GlyfsTer?) c.781_782dup (p.Met262GlyfsTer16) | dbSNP |
19 | g.44908999_44909000del | CA2576812056 | APOE | c.703_704del (p.Arg235AspfsTer?) c.781_782del (p.Arg261AspfsTer?) | gnomAD v4 |
19 | g.44908997_44909000del | CA2576812055 | APOE | c.701_704del (p.Ala234GlyfsTer16) c.779_782del (p.Ala260GlyfsTer?) c.779_782del (p.Ala260GlyfsTer16) | |
19 | g.44908993C>A | CA406304729 | APOE | c.697C>A (p.Arg233Ser) c.775C>A (p.Arg259Ser) | gnomAD v4 |
19 | g.44908993C= | CA2338167998 | APOE | c.697C= (p.Arg233=) c.775C= (p.Arg259=) | |
19 | g.44908993C>G | CA308885948 | APOE | c.697C>G (p.Arg233Gly) c.775C>G (p.Arg259Gly) | dbSNP |
19 | g.44908993C>T | CA406304732 | APOE | c.697C>T (p.Arg233Cys) c.775C>T (p.Arg259Cys) | dbSNP gnomAD v4 |
19 | g.44908994G>A | CA406304738 | APOE | c.698G>A (p.Arg233His) c.776G>A (p.Arg259His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908994G>C | CA406304742 | APOE | c.698G>C (p.Arg233Pro) c.776G>C (p.Arg259Pro) | gnomAD v4 |
19 | g.44908994G= | CA2338167999 | APOE | c.698G= (p.Arg233=) c.776G= (p.Arg259=) | |
19 | g.44908994G>T | CA406304736 | APOE | c.698G>T (p.Arg233Leu) c.776G>T (p.Arg259Leu) | gnomAD v4 |
19 | g.44908995C>A | CA507947636 | APOE | c.699C>A (p.Arg233=) c.777C>A (p.Arg259=) | |
19 | g.44908995C= | CA2338168000 | APOE | c.699C= (p.Arg233=) c.777C= (p.Arg259=) | |
19 | g.44908995C>G | CA507947639 | APOE | c.699C>G (p.Arg233=) c.777C>G (p.Arg259=) | |
19 | g.44908995C>T | CA507947638 | APOE | c.699C>T (p.Arg233=) c.777C>T (p.Arg259=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908996G>A | CA406304743 | APOE | c.700G>A (p.Ala234Thr) c.778G>A (p.Ala260Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.44908996G>C | CA406304747 | APOE | c.700G>C (p.Ala234Pro) c.778G>C (p.Ala260Pro) | |
19 | g.44908996G= | CA2338168001 | APOE | c.700G= (p.Ala234=) c.778G= (p.Ala260=) | |
19 | g.44908996G>T | CA406304745 | APOE | c.700G>T (p.Ala234Ser) c.778G>T (p.Ala260Ser) | gnomAD v4 |
19 | g.44908997C>A | CA406304749 | APOE | c.701C>A (p.Ala234Glu) c.779C>A (p.Ala260Glu) | gnomAD v4 |
19 | g.44908997C= | CA2338168002 | APOE | c.701C= (p.Ala234=) c.779C= (p.Ala260=) | |
19 | g.44908997C>G | CA406304754 | APOE | c.701C>G (p.Ala234Gly) c.779C>G (p.Ala260Gly) | |
19 | g.44908997C>T | CA406304752 | APOE | c.701C>T (p.Ala234Val) c.779C>T (p.Ala260Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908998G>A | CA507947645 | APOE | c.702G>A (p.Ala234=) c.780G>A (p.Ala260=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908998G>C | CA507947647 | APOE | c.702G>C (p.Ala234=) c.780G>C (p.Ala260=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908998G= | CA2338168003 | APOE | c.702G= (p.Ala234=) c.780G= (p.Ala260=) | |
19 | g.44908998G>T | CA507947648 | APOE | c.702G>T (p.Ala234=) c.780G>T (p.Ala260=) | gnomAD v4 |
19 | g.44908999C>A | CA507947649 | APOE | c.703C>A (p.Arg235=) c.781C>A (p.Arg261=) | gnomAD v4 |
19 | g.44908999C= | CA2338168004 | APOE | c.703C= (p.Arg235=) c.781C= (p.Arg261=) | |
19 | g.44908999C>G | CA406304757 | APOE | c.703C>G (p.Arg235Gly) c.781C>G (p.Arg261Gly) | |
19 | g.44908999C>T | CA9506087 | APOE | c.703C>T (p.Arg235Trp) c.781C>T (p.Arg261Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909000G>A | CA406304762 | APOE | c.704G>A (p.Arg235Gln) c.782G>A (p.Arg261Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909000G>C | CA406304763 | APOE | c.704G>C (p.Arg235Pro) c.782G>C (p.Arg261Pro) |