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.44908855_44908859del | CA2585715448 | APOE | c.559_563del (p.Gly187ArgfsTer?) c.637_641del (p.Gly213ArgfsTer?) | gnomAD v4 |
19 | g.44908857C>A | CA507947366 | APOE | c.561C>A (p.Gly187=) c.639C>A (p.Gly213=) | gnomAD v4 |
19 | g.44908857C>G | CA507947367 | APOE | c.561C>G (p.Gly187=) c.639C>G (p.Gly213=) | |
19 | g.44908857C>T | CA507947368 | APOE | c.561C>T (p.Gly187=) c.639C>T (p.Gly213=) | gnomAD v3 gnomAD v4 |
19 | g.44908858G>A | CA406304260 | APOE | c.562G>A (p.Ala188Thr) c.640G>A (p.Ala214Thr) | gnomAD v4 |
19 | g.44908858G>C | CA406304261 | APOE | c.562G>C (p.Ala188Pro) c.640G>C (p.Ala214Pro) | dbSNP |
19 | g.44908858G>T | CA406304262 | APOE | c.562G>T (p.Ala188Ser) c.640G>T (p.Ala214Ser) | |
19 | g.44908859C>A | CA406304264 | APOE | c.563C>A (p.Ala188Asp) c.641C>A (p.Ala214Asp) | gnomAD v4 |
19 | g.44908859C= | CA2338167928 | APOE | c.563C= (p.Ala188=) c.641C= (p.Ala214=) | |
19 | g.44908859C>G | CA406304265 | APOE | c.563C>G (p.Ala188Gly) c.641C>G (p.Ala214Gly) | |
19 | g.44908859C>T | CA406304263 | APOE | c.563C>T (p.Ala188Val) c.641C>T (p.Ala214Val) | gnomAD v4 |
19 | g.44908860C>A | CA507947369 | APOE | c.564C>A (p.Ala188=) c.642C>A (p.Ala214=) | gnomAD v4 |
19 | g.44908860C>G | CA507947370 | APOE | c.564C>G (p.Ala188=) c.642C>G (p.Ala214=) | |
19 | g.44908860C>T | CA507947371 | APOE | c.564C>T (p.Ala188=) c.642C>T (p.Ala214=) | gnomAD v4 |
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.44908861G>A | CA308885826 | APOE | c.565G>A (p.Glu189Lys) c.643G>A (p.Glu215Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908861G>C | CA406304266 | APOE | c.565G>C (p.Glu189Gln) c.643G>C (p.Glu215Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908861G= | CA2338167929 | APOE | c.565G= (p.Glu189=) c.643G= (p.Glu215=) | |
19 | g.44908861G>T | CA406304267 | APOE | c.565G>T (p.Glu189Ter) c.643G>T (p.Glu215Ter) | dbSNP gnomAD v4 |
19 | g.44908862A= | CA2338167930 | APOE | c.566A= (p.Glu189=) c.644A= (p.Glu215=) | |
19 | g.44908862A>C | CA406304268 | APOE | c.566A>C (p.Glu189Ala) c.644A>C (p.Glu215Ala) | |
19 | g.44908862A>G | CA406304269 | APOE | c.566A>G (p.Glu189Gly) c.644A>G (p.Glu215Gly) | gnomAD v4 |
19 | g.44908862A>T | CA406304270 | APOE | c.566A>T (p.Glu189Val) c.644A>T (p.Glu215Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908863G>A | CA507947373 | APOE | c.567G>A (p.Glu189=) c.645G>A (p.Glu215=) | gnomAD v4 |
19 | g.44908863G>C | CA406304272 | APOE | c.567G>C (p.Glu189Asp) c.645G>C (p.Glu215Asp) | |
19 | g.44908863G>T | CA406304271 | APOE | c.567G>T (p.Glu189Asp) c.645G>T (p.Glu215Asp) | gnomAD v4 |
19 | g.44908864C>A | CA406304273 | APOE | c.568C>A (p.Arg190Ser) c.646C>A (p.Arg216Ser) | gnomAD v4 |
19 | g.44908864C= | CA2338167931 | APOE | c.568C= (p.Arg190=) c.646C= (p.Arg216=) | |
19 | g.44908864C>G | CA406304274 | APOE | c.568C>G (p.Arg190Gly) c.646C>G (p.Arg216Gly) | |
19 | g.44908864C>T | CA308885840 | APOE | c.568C>T (p.Arg190Cys) c.646C>T (p.Arg216Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908865G>A | CA406304275 | APOE | c.569G>A (p.Arg190His) c.647G>A (p.Arg216His) | gnomAD v4 |
19 | g.44908865G>C | CA406304276 | APOE | c.569G>C (p.Arg190Pro) c.647G>C (p.Arg216Pro) | |
19 | g.44908865G>T | CA406304277 | APOE | c.569G>T (p.Arg190Leu) c.647G>T (p.Arg216Leu) | |
19 | g.44908866C>A | CA507947374 | APOE | c.570C>A (p.Arg190=) c.648C>A (p.Arg216=) | |
19 | g.44908866C= | CA2338167932 | APOE | c.570C= (p.Arg190=) c.648C= (p.Arg216=) | |
19 | g.44908866C>G | CA507947375 | APOE | c.570C>G (p.Arg190=) c.648C>G (p.Arg216=) | |
19 | g.44908866C>T | CA507947376 | APOE | c.570C>T (p.Arg190=) c.648C>T (p.Arg216=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.44908867G>A | CA406304278 | APOE | c.571G>A (p.Gly191Ser) c.649G>A (p.Gly217Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908867G>C | CA406304280 | APOE | c.571G>C (p.Gly191Arg) c.649G>C (p.Gly217Arg) | |
19 | g.44908867G= | CA2338167933 | APOE | c.571G= (p.Gly191=) c.649G= (p.Gly217=) | |
19 | g.44908867G>T | CA406304279 | APOE | c.571G>T (p.Gly191Cys) c.649G>T (p.Gly217Cys) | gnomAD v4 |
19 | g.44908868G>A | CA406304281 | APOE | c.572G>A (p.Gly191Asp) c.650G>A (p.Gly217Asp) | gnomAD v4 |
19 | g.44908868G>C | CA406304282 | APOE | c.572G>C (p.Gly191Ala) c.650G>C (p.Gly217Ala) | |
19 | g.44908868G>T | CA406304283 | APOE | c.572G>T (p.Gly191Val) c.650G>T (p.Gly217Val) | |
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) |