Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908817_44908870del | CA2695228866 | APOE | c.521_574del (p.Gln174_Gly191del) c.599_652del (p.Gln200_Gly217del) | |
19 | g.44908867_44908890dup | CA633478402 | APOE | c.571_594dup (p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg) c.649_672dup (p.Arg224_Leu225insGlyLeuSerAlaIleArgGluArg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908869C>A | CA507947377 | APOE | c.573C>A (p.Gly191=) c.651C>A (p.Gly217=) | gnomAD v4 |
19 | g.44908869C= | CA2338167934 | APOE | c.573C= (p.Gly191=) c.651C= (p.Gly217=) | |
19 | g.44908869C>G | CA507947378 | APOE | c.573C>G (p.Gly191=) c.651C>G (p.Gly217=) | |
19 | g.44908869C>T | CA507947379 | APOE | c.573C>T (p.Gly191=) c.651C>T (p.Gly217=) | dbSNP |
19 | g.44908870C>A | CA406304284 | APOE | c.574C>A (p.Leu192Ile) c.652C>A (p.Leu218Ile) | |
19 | g.44908870C= | CA2338167935 | APOE | c.574C= (p.Leu192=) c.652C= (p.Leu218=) | |
19 | g.44908870C>G | CA406304285 | APOE | c.574C>G (p.Leu192Val) c.652C>G (p.Leu218Val) | dbSNP |
19 | g.44908870C>T | CA406304286 | APOE | c.574C>T (p.Leu192Phe) c.652C>T (p.Leu218Phe) | |
19 | g.44908871T>A | CA406304287 | APOE | c.575T>A (p.Leu192His) c.653T>A (p.Leu218His) | |
19 | g.44908871T>C | CA406304288 | APOE | c.575T>C (p.Leu192Pro) c.653T>C (p.Leu218Pro) | |
19 | g.44908871T>G | CA406304289 | APOE | c.575T>G (p.Leu192Arg) c.653T>G (p.Leu218Arg) | |
19 | g.44908872C>A | CA507947383 | APOE | c.576C>A (p.Leu192=) c.654C>A (p.Leu218=) | gnomAD v4 |
19 | g.44908872C= | CA2338167936 | APOE | c.576C= (p.Leu192=) c.654C= (p.Leu218=) | |
19 | g.44908872C>G | CA507947382 | APOE | c.576C>G (p.Leu192=) c.654C>G (p.Leu218=) | dbSNP |
19 | g.44908872C>T | CA507947380 | APOE | c.576C>T (p.Leu192=) c.654C>T (p.Leu218=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908873A>C | CA406304290 | APOE | c.577A>C (p.Ser193Arg) c.655A>C (p.Ser219Arg) | |
19 | g.44908873A>G | CA406304291 | APOE | c.577A>G (p.Ser193Gly) c.655A>G (p.Ser219Gly) | gnomAD v4 |
19 | g.44908873A>T | CA406304292 | APOE | c.577A>T (p.Ser193Cys) c.655A>T (p.Ser219Cys) | |
19 | g.44908874G>A | CA406304294 | APOE | c.578G>A (p.Ser193Asn) c.656G>A (p.Ser219Asn) | |
19 | g.44908874G>C | CA406304295 | APOE | c.578G>C (p.Ser193Thr) c.656G>C (p.Ser219Thr) | |
19 | g.44908874G>T | CA406304293 | APOE | c.578G>T (p.Ser193Ile) c.656G>T (p.Ser219Ile) | |
19 | g.44908875C>A | CA406304296 | APOE | c.579C>A (p.Ser193Arg) c.657C>A (p.Ser219Arg) | dbSNP |
19 | g.44908875C= | CA2338167937 | APOE | c.579C= (p.Ser193=) c.657C= (p.Ser219=) | |
19 | g.44908875C>G | CA9506079 | APOE | c.579C>G (p.Ser193Arg) c.657C>G (p.Ser219Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908875C>T | CA507947386 | APOE | c.579C>T (p.Ser193=) c.657C>T (p.Ser219=) | dbSNP gnomAD v4 |
19 | g.44908876G>A | CA406304298 | APOE | c.580G>A (p.Ala194Thr) c.658G>A (p.Ala220Thr) | dbSNP gnomAD v4 COSMIC |
19 | g.44908876G>C | CA406304297 | APOE | c.580G>C (p.Ala194Pro) c.658G>C (p.Ala220Pro) | |
19 | g.44908876G= | CA2338167938 | APOE | c.580G= (p.Ala194=) c.658G= (p.Ala220=) | |
19 | g.44908876G>T | CA406304299 | APOE | c.580G>T (p.Ala194Ser) c.658G>T (p.Ala220Ser) | |
19 | g.44908877C>A | CA406304300 | APOE | c.581C>A (p.Ala194Asp) c.659C>A (p.Ala220Asp) | |
19 | g.44908877C>G | CA406304301 | APOE | c.581C>G (p.Ala194Gly) c.659C>G (p.Ala220Gly) | |
19 | g.44908877C>T | CA406304302 | APOE | c.581C>T (p.Ala194Val) c.659C>T (p.Ala220Val) | |
19 | g.44908878del | CA2695228867 | APOE | c.582del (p.Ile195SerfsTer?) c.660del (p.Ile221SerfsTer?) | |
19 | g.44908878C>A | CA507947390 | APOE | c.582C>A (p.Ala194=) c.660C>A (p.Ala220=) | |
19 | g.44908878C>G | CA507947392 | APOE | c.582C>G (p.Ala194=) c.660C>G (p.Ala220=) | |
19 | g.44908878C>T | CA507947391 | APOE | c.582C>T (p.Ala194=) c.660C>T (p.Ala220=) | gnomAD v4 |
19 | g.44908879A= | CA2338167939 | APOE | c.583A= (p.Ile195=) c.661A= (p.Ile221=) | |
19 | g.44908879A>C | CA406304304 | APOE | c.583A>C (p.Ile195Leu) c.661A>C (p.Ile221Leu) | |
19 | g.44908879A>G | CA406304306 | APOE | c.583A>G (p.Ile195Val) c.661A>G (p.Ile221Val) | |
19 | g.44908879A>T | CA406304307 | APOE | c.583A>T (p.Ile195Phe) c.661A>T (p.Ile221Phe) | ClinVar dbSNP gnomAD v4 |
19 | g.44908880T>A | CA406304308 | APOE | c.584T>A (p.Ile195Asn) c.662T>A (p.Ile221Asn) | |
19 | g.44908880T>C | CA406304309 | APOE | c.584T>C (p.Ile195Thr) c.662T>C (p.Ile221Thr) | |
19 | g.44908880T>G | CA406304311 | APOE | c.584T>G (p.Ile195Ser) c.662T>G (p.Ile221Ser) | |
19 | g.44908881C>A | CA507947394 | APOE | c.585C>A (p.Ile195=) c.663C>A (p.Ile221=) | |
19 | g.44908881C= | CA2338167940 | APOE | c.585C= (p.Ile195=) c.663C= (p.Ile221=) | |
19 | g.44908881C>G | CA406304312 | APOE | c.585C>G (p.Ile195Met) c.663C>G (p.Ile221Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908881C>T | CA507947396 | APOE | c.585C>T (p.Ile195=) c.663C>T (p.Ile221=) | dbSNP gnomAD v4 |
19 | g.44908882C>A | CA406304315 | APOE | c.586C>A (p.Arg196Ser) c.664C>A (p.Arg222Ser) | gnomAD v4 |