Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908656_44908671del | CA2585715437 | APOE | c.360_375del (p.Arg121TrpfsTer?) c.438_453del (p.Arg147TrpfsTer?) | gnomAD v4 |
19 | g.44908657C>A | CA308885370 | APOE | c.361C>A (p.Arg121=) c.439C>A (p.Arg147=) | dbSNP gnomAD v4 |
19 | g.44908657C= | CA2338167478 | APOE | c.361C= (p.Arg121=) c.439C= (p.Arg147=) | |
19 | g.44908657C>G | CA406303873 | APOE | c.361C>G (p.Arg121Gly) c.439C>G (p.Arg147Gly) | dbSNP |
19 | g.44908657C>T | CA9506049 | APOE | c.361C>T (p.Arg121Trp) c.439C>T (p.Arg147Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908658G>A | CA406303874 | APOE | c.362G>A (p.Arg121Gln) c.440G>A (p.Arg147Gln) | ClinVar dbSNP gnomAD v4 |
19 | g.44908658G>C | CA406303875 | APOE | c.362G>C (p.Arg121Pro) c.440G>C (p.Arg147Pro) | |
19 | g.44908658G= | CA2338167480 | APOE | c.362G= (p.Arg121=) c.440G= (p.Arg147=) | |
19 | g.44908658G>T | CA406303876 | APOE | c.362G>T (p.Arg121Leu) c.440G>T (p.Arg147Leu) | gnomAD v4 |
19 | g.44908659G>A | CA507947482 | APOE | c.363G>A (p.Arg121=) c.441G>A (p.Arg147=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908659G>C | CA507947483 | APOE | c.363G>C (p.Arg121=) c.441G>C (p.Arg147=) | dbSNP |
19 | g.44908659G= | CA2338167482 | APOE | c.363G= (p.Arg121=) c.441G= (p.Arg147=) | |
19 | g.44908659G>T | CA507947484 | APOE | c.363G>T (p.Arg121=) c.441G>T (p.Arg147=) | |
19 | g.44908660C>A | CA345321 | APOE | c.364C>A (p.Leu122Met) c.442C>A (p.Leu148Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908660C= | CA2338167485 | APOE | c.364C= (p.Leu122=) c.442C= (p.Leu148=) | |
19 | g.44908660C>G | CA406303877 | APOE | c.364C>G (p.Leu122Val) c.442C>G (p.Leu148Val) | dbSNP |
19 | g.44908660C>T | CA507947487 | APOE | c.364C>T (p.Leu122=) c.442C>T (p.Leu148=) | gnomAD v4 |
19 | g.44908661T>A | CA406303878 | APOE | c.365T>A (p.Leu122Gln) c.443T>A (p.Leu148Gln) | |
19 | g.44908661T>C | CA406303879 | APOE | c.365T>C (p.Leu122Pro) c.443T>C (p.Leu148Pro) | |
19 | g.44908661T>G | CA406303880 | APOE | c.365T>G (p.Leu122Arg) c.443T>G (p.Leu148Arg) | |
19 | g.44908662G>A | CA507947490 | APOE | c.366G>A (p.Leu122=) c.444G>A (p.Leu148=) | dbSNP gnomAD v4 |
19 | g.44908662G>C | CA507947489 | APOE | c.366G>C (p.Leu122=) c.444G>C (p.Leu148=) | |
19 | g.44908662G= | CA2338167489 | APOE | c.366G= (p.Leu122=) c.444G= (p.Leu148=) | |
19 | g.44908662G>T | CA9506050 | APOE | c.366G>T (p.Leu122=) c.444G>T (p.Leu148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908663G>A | CA406303881 | APOE | c.367G>A (p.Gly123Ser) c.445G>A (p.Gly149Ser) | |
19 | g.44908663G>C | CA406303882 | APOE | c.367G>C (p.Gly123Arg) c.445G>C (p.Gly149Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908663G= | CA2338167493 | APOE | c.367G= (p.Gly123=) c.445G= (p.Gly149=) | |
19 | g.44908663G>T | CA406303883 | APOE | c.367G>T (p.Gly123Cys) c.445G>T (p.Gly149Cys) | |
19 | g.44908664G>A | CA406303884 | APOE | c.368G>A (p.Gly123Asp) c.446G>A (p.Gly149Asp) | dbSNP gnomAD v2 |
19 | g.44908664G>C | CA406303886 | APOE | c.368G>C (p.Gly123Ala) c.446G>C (p.Gly149Ala) | |
19 | g.44908664G= | CA2338167495 | APOE | c.368G= (p.Gly123=) c.446G= (p.Gly149=) | |
19 | g.44908664G>T | CA406303885 | APOE | c.368G>T (p.Gly123Val) c.446G>T (p.Gly149Val) | |
19 | g.44908665C>A | CA507947495 | APOE | c.369C>A (p.Gly123=) c.447C>A (p.Gly149=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908665C= | CA2338167498 | APOE | c.369C= (p.Gly123=) c.447C= (p.Gly149=) | |
19 | g.44908665C>G | CA507947494 | APOE | c.369C>G (p.Gly123=) c.447C>G (p.Gly149=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908665C>T | CA507947493 | APOE | c.369C>T (p.Gly123=) c.447C>T (p.Gly149=) | |
19 | g.44908666G>A | CA406303887 | APOE | c.370G>A (p.Ala124Thr) c.448G>A (p.Ala150Thr) | gnomAD v4 |
19 | g.44908666G>C | CA406303888 | APOE | c.370G>C (p.Ala124Pro) c.448G>C (p.Ala150Pro) | |
19 | g.44908666G>T | CA406303889 | APOE | c.370G>T (p.Ala124Ser) c.448G>T (p.Ala150Ser) | |
19 | g.44908667C>A | CA406303890 | APOE | c.371C>A (p.Ala124Glu) c.449C>A (p.Ala150Glu) | |
19 | g.44908667C= | CA2338167501 | APOE | c.371C= (p.Ala124=) c.449C= (p.Ala150=) | |
19 | g.44908667C>G | CA406303891 | APOE | c.371C>G (p.Ala124Gly) c.449C>G (p.Ala150Gly) | |
19 | g.44908667C>T | CA308885402 | APOE | c.371C>T (p.Ala124Val) c.449C>T (p.Ala150Val) | dbSNP gnomAD v4 COSMIC |
19 | g.44908668G>A | CA507947499 | APOE | c.372G>A (p.Ala124=) c.450G>A (p.Ala150=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908668G>C | CA507947497 | APOE | c.372G>C (p.Ala124=) c.450G>C (p.Ala150=) | dbSNP |
19 | g.44908668G= | CA2338167505 | APOE | c.372G= (p.Ala124=) c.450G= (p.Ala150=) | |
19 | g.44908668G>T | CA507947498 | APOE | c.372G>T (p.Ala124=) c.450G>T (p.Ala150=) | dbSNP gnomAD v4 |
19 | g.44908669G>A | CA308885407 | APOE | c.373G>A (p.Asp125Asn) c.451G>A (p.Asp151Asn) | dbSNP |
19 | g.44908669G>C | CA406303892 | APOE | c.373G>C (p.Asp125His) c.451G>C (p.Asp151His) | dbSNP gnomAD v4 |
19 | g.44908669G= | CA2338167507 | APOE | c.373G= (p.Asp125=) c.451G= (p.Asp151=) |