UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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) | ClinVar 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=) | |
| 19 | g.44908669G>T | CA406303893 | APOE | c.373G>T (p.Asp125Tyr) c.451G>T (p.Asp151Tyr) | |
| 19 | g.44908670A>C | CA406303896 | APOE | c.374A>C (p.Asp125Ala) c.452A>C (p.Asp151Ala) | |
| 19 | g.44908670A>G | CA406303895 | APOE | c.374A>G (p.Asp125Gly) c.452A>G (p.Asp151Gly) | |
| 19 | g.44908670A>T | CA406303894 | APOE | c.374A>T (p.Asp125Val) c.452A>T (p.Asp151Val) | |
| 19 | g.44908671C>A | CA406303897 | APOE | c.375C>A (p.Asp125Glu) c.453C>A (p.Asp151Glu) | |
| 19 | g.44908671C>G | CA406303898 | APOE | c.375C>G (p.Asp125Glu) c.453C>G (p.Asp151Glu) | gnomAD v4 |
| 19 | g.44908671C>T | CA507947503 | APOE | c.375C>T (p.Asp125=) c.453C>T (p.Asp151=) | gnomAD v4 |
| 19 | g.44908672A>C | CA406303899 | APOE | c.376A>C (p.Met126Leu) c.454A>C (p.Met152Leu) | |
| 19 | g.44908672A>G | CA406303900 | APOE | c.376A>G (p.Met126Val) c.454A>G (p.Met152Val) | |
| 19 | g.44908672A>T | CA406303901 | APOE | c.376A>T (p.Met126Leu) c.454A>T (p.Met152Leu) | |
| 19 | g.44908673T>A | CA406303902 | APOE | c.377T>A (p.Met126Lys) c.455T>A (p.Met152Lys) | |
| 19 | g.44908673T>C | CA406303903 | APOE | c.377T>C (p.Met126Thr) c.455T>C (p.Met152Thr) | gnomAD v4 |
| 19 | g.44908673T>G | CA406303904 | APOE | c.377T>G (p.Met126Arg) c.455T>G (p.Met152Arg) | gnomAD v4 |
| 19 | g.44908674G>A | CA406303905 | APOE | c.378G>A (p.Met126Ile) c.456G>A (p.Met152Ile) | gnomAD v4 |
| 19 | g.44908674G>C | CA406303906 | APOE | c.378G>C (p.Met126Ile) c.456G>C (p.Met152Ile) | |
| 19 | g.44908674G>T | CA406303907 | APOE | c.378G>T (p.Met126Ile) c.456G>T (p.Met152Ile) | gnomAD v4 |
| 19 | g.44908675G>A | CA406303910 | APOE | c.379G>A (p.Glu127Lys) c.457G>A (p.Glu153Lys) | gnomAD v4 |
| 19 | g.44908675G>C | CA406303909 | APOE | c.379G>C (p.Glu127Gln) c.457G>C (p.Glu153Gln) | gnomAD v4 |
| 19 | g.44908675G>T | CA406303908 | APOE | c.379G>T (p.Glu127Ter) c.457G>T (p.Glu153Ter) | |
| 19 | g.44908676A>C | CA406303911 | APOE | c.380A>C (p.Glu127Ala) c.458A>C (p.Glu153Ala) | |
| 19 | g.44908676A>G | CA406303912 | APOE | c.380A>G (p.Glu127Gly) c.458A>G (p.Glu153Gly) | |
| 19 | g.44908676A>T | CA406303913 | APOE | c.380A>T (p.Glu127Val) c.458A>T (p.Glu153Val) | |
| 19 | g.44908677G>A | CA9506051 | APOE | c.381G>A (p.Glu127=) c.459G>A (p.Glu153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908677G>C | CA406303914 | APOE | c.381G>C (p.Glu127Asp) c.459G>C (p.Glu153Asp) | |
| 19 | g.44908677G= | CA2338167511 | APOE | c.381G= (p.Glu127=) c.459G= (p.Glu153=) | |
| 19 | g.44908677G>T | CA406303915 | APOE | c.381G>T (p.Glu127Asp) c.459G>T (p.Glu153Asp) | |
| 19 | g.44908678G>A | CA9506052 | APOE | c.382G>A (p.Asp128Asn) c.460G>A (p.Asp154Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908678G>C | CA406303916 | APOE | c.382G>C (p.Asp128His) c.460G>C (p.Asp154His) | |
| 19 | g.44908678G= | CA2338167516 | APOE | c.382G= (p.Asp128=) c.460G= (p.Asp154=) | |
| 19 | g.44908678G>T | CA406303917 | APOE | c.382G>T (p.Asp128Tyr) c.460G>T (p.Asp154Tyr) | |
| 19 | g.44908679A>C | CA406303918 | APOE | c.383A>C (p.Asp128Ala) c.461A>C (p.Asp154Ala) | |
| 19 | g.44908679A>G | CA406303919 | APOE | c.383A>G (p.Asp128Gly) c.461A>G (p.Asp154Gly) | |
| 19 | g.44908679A>T | CA406303920 | APOE | c.383A>T (p.Asp128Val) c.461A>T (p.Asp154Val) | |
| 19 | g.44908680C>A | CA406303922 | APOE | c.384C>A (p.Asp128Glu) c.462C>A (p.Asp154Glu) | |
| 19 | g.44908680C= | CA2338167519 | APOE | c.384C= (p.Asp128=) c.462C= (p.Asp154=) | |
| 19 | g.44908680C>G | CA406303921 | APOE | c.384C>G (p.Asp128Glu) c.462C>G (p.Asp154Glu) | |
| 19 | g.44908680C>T | CA9506053 | APOE | c.384C>T (p.Asp128=) c.462C>T (p.Asp154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908681G>A | CA9506054 | APOE | c.385G>A (p.Val129Met) c.463G>A (p.Val155Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44908681G>C | CA308885445 | APOE | c.385G>C (p.Val129Leu) c.463G>C (p.Val155Leu) | dbSNP gnomAD v4 |
| 19 | g.44908681G= | CA2338167522 | APOE | c.385G= (p.Val129=) c.463G= (p.Val155=) | |
| 19 | g.44908681G>T | CA406303923 | APOE | c.385G>T (p.Val129Leu) c.463G>T (p.Val155Leu) | gnomAD v4 |
| 19 | g.44908682T>A | CA406303924 | APOE | c.386T>A (p.Val129Glu) c.464T>A (p.Val155Glu) | |
| 19 | g.44908682T>C | CA406303925 | APOE | c.386T>C (p.Val129Ala) c.464T>C (p.Val155Ala) | |
| 19 | g.44908682T>G | CA406303926 | APOE | c.386T>G (p.Val129Gly) c.464T>G (p.Val155Gly) | |
| 19 | g.44908683G>A | CA308885459 | APOE | c.387G>A (p.Val129=) c.465G>A (p.Val155=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908683G>C | CA507947527 | APOE | c.387G>C (p.Val129=) c.465G>C (p.Val155=) | |
| 19 | g.44908683G= | CA2338167525 | APOE | c.387G= (p.Val129=) c.465G= (p.Val155=) | |
| 19 | g.44908683G>T | CA507947525 | APOE | c.387G>T (p.Val129=) c.465G>T (p.Val155=) | |
| 19 | g.44908684T>A | CA406303927 | APOE | c.388T>A (p.Cys130Ser) c.466T>A (p.Cys156Ser) | |
| 19 | g.44908684T>C | CA127512 | APOE | c.388T>C (p.Cys130Arg) c.466T>C (p.Cys156Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44908684T>C;44908774C>T] | CA041161 | APOE | c.[388T>C;478C>T] (p.[Cys130Arg;Arg160Cys]) c.[466T>C;556C>T] (p.[Cys156Arg;Arg186Cys]) | |
| 19 | g.[44908684T>C;44909101C>G] | CA041740 | APOE | c.[388T>C;805C>G] (p.[Cys130Arg;Arg269Gly]) c.[466T>C;883C>G] (p.[Cys156Arg;Arg295Gly]) | |
| 19 | g.44908684T>G | CA406303928 | APOE | c.388T>G (p.Cys130Gly) c.466T>G (p.Cys156Gly) | |
| 19 | g.44908684T= | CA2338167530 | APOE | c.388T= (p.Cys130=) c.466T= (p.Cys156=) | |
| 19 | g.44908685G>A | CA406303929 | APOE | c.389G>A (p.Cys130Tyr) c.467G>A (p.Cys156Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908685G>C | CA406303930 | APOE | c.389G>C (p.Cys130Ser) c.467G>C (p.Cys156Ser) | |
| 19 | g.44908685G= | CA2338167534 | APOE | c.389G= (p.Cys130=) c.467G= (p.Cys156=) | |
| 19 | g.44908685G>T | CA406303931 | APOE | c.389G>T (p.Cys130Phe) c.467G>T (p.Cys156Phe) | |
| 19 | g.44908687_44908692del | CA2585715438 | APOE | c.391_396del (p.Gly131_Arg132del) c.469_474del (p.Gly157_Arg158del) | gnomAD v4 |
| 19 | g.44908686C>A | CA406303932 | APOE | c.390C>A (p.Cys130Ter) c.468C>A (p.Cys156Ter) | |
| 19 | g.44908686C>G | CA406303933 | APOE | c.390C>G (p.Cys130Trp) c.468C>G (p.Cys156Trp) | |
| 19 | g.44908686C>T | CA507947534 | APOE | c.390C>T (p.Cys130=) c.468C>T (p.Cys156=) | gnomAD v4 |
| 19 | g.44908687G>A | CA406303936 | APOE | c.391G>A (p.Gly131Ser) c.469G>A (p.Gly157Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.44908687G>C | CA406303935 | APOE | c.391G>C (p.Gly131Arg) c.469G>C (p.Gly157Arg) | |
| 19 | g.44908687G= | CA2338167537 | APOE | c.391G= (p.Gly131=) c.469G= (p.Gly157=) | |
| 19 | g.44908687G>T | CA406303934 | APOE | c.391G>T (p.Gly131Cys) c.469G>T (p.Gly157Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908688G>A | CA406303937 | APOE | c.392G>A (p.Gly131Asp) c.470G>A (p.Gly157Asp) | dbSNP gnomAD v4 |
| 19 | g.44908688G>C | CA406303938 | APOE | c.392G>C (p.Gly131Ala) c.470G>C (p.Gly157Ala) | |
| 19 | g.44908688G= | CA2338167542 | APOE | c.392G= (p.Gly131=) c.470G= (p.Gly157=) | |
| 19 | g.44908688G>T | CA406303939 | APOE | c.392G>T (p.Gly131Val) c.470G>T (p.Gly157Val) | gnomAD v4 |
| 19 | g.44908689C>A | CA507947538 | APOE | c.393C>A (p.Gly131=) c.471C>A (p.Gly157=) | |
| 19 | g.44908689C>G | CA507947542 | APOE | c.393C>G (p.Gly131=) c.471C>G (p.Gly157=) | |
| 19 | g.44908689C>T | CA507947539 | APOE | c.393C>T (p.Gly131=) c.471C>T (p.Gly157=) | |
| 19 | g.44908690C>A | CA308885481 | APOE | c.394C>A (p.Arg132Ser) c.472C>A (p.Arg158Ser) | dbSNP |
| 19 | g.44908690C= | CA2338167546 | APOE | c.394C= (p.Arg132=) c.472C= (p.Arg158=) | |
| 19 | g.44908690C>G | CA406303940 | APOE | c.394C>G (p.Arg132Gly) c.472C>G (p.Arg158Gly) | ClinVar |
| 19 | g.44908690C>T | CA9506055 | APOE | c.394C>T (p.Arg132Cys) c.472C>T (p.Arg158Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908691G>A | CA406303941 | APOE | c.395G>A (p.Arg132His) c.473G>A (p.Arg158His) | dbSNP gnomAD v4 |
| 19 | g.44908691G>C | CA406303942 | APOE | c.395G>C (p.Arg132Pro) c.473G>C (p.Arg158Pro) | |
| 19 | g.44908691G= | CA2338167548 | APOE | c.395G= (p.Arg132=) c.473G= (p.Arg158=) | |
| 19 | g.44908691G>T | CA406303943 | APOE | c.395G>T (p.Arg132Leu) c.473G>T (p.Arg158Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908692C>A | CA507947546 | APOE | c.396C>A (p.Arg132=) c.474C>A (p.Arg158=) | |
| 19 | g.44908692C>G | CA507947547 | APOE | c.396C>G (p.Arg132=) c.474C>G (p.Arg158=) | |
| 19 | g.44908692C>T | CA507947548 | APOE | c.396C>T (p.Arg132=) c.474C>T (p.Arg158=) | |
| 19 | g.44908693C>A | CA406303944 | APOE | c.397C>A (p.Leu133Met) c.475C>A (p.Leu159Met) | |
| 19 | g.44908693C= | CA2338167549 | APOE | c.397C= (p.Leu133=) c.475C= (p.Leu159=) | |
| 19 | g.44908693C>G | CA406303945 | APOE | c.397C>G (p.Leu133Val) c.475C>G (p.Leu159Val) | |
| 19 | g.44908693C>T | CA507947549 | APOE | c.397C>T (p.Leu133=) c.475C>T (p.Leu159=) | dbSNP gnomAD v4 |
| 19 | g.44908694T>A | CA406303948 | APOE | c.398T>A (p.Leu133Gln) c.476T>A (p.Leu159Gln) | |
| 19 | g.44908694T>C | CA406303947 | APOE | c.398T>C (p.Leu133Pro) c.476T>C (p.Leu159Pro) | |
| 19 | g.44908694T>G | CA406303946 | APOE | c.398T>G (p.Leu133Arg) c.476T>G (p.Leu159Arg) | gnomAD v4 |
| 19 | g.44908695G>A | CA507947555 | APOE | c.399G>A (p.Leu133=) c.477G>A (p.Leu159=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908695G>C | CA507947556 | APOE | c.399G>C (p.Leu133=) c.477G>C (p.Leu159=) | |
| 19 | g.44908695G= | CA2338167553 | APOE | c.399G= (p.Leu133=) c.477G= (p.Leu159=) | |
| 19 | g.44908695G>T | CA507947557 | APOE | c.399G>T (p.Leu133=) c.477G>T (p.Leu159=) | |
| 19 | g.44908696G>A | CA406303949 | APOE | c.400G>A (p.Val134Met) c.478G>A (p.Val160Met) | |
| 19 | g.44908696G>C | CA406303950 | APOE | c.400G>C (p.Val134Leu) c.478G>C (p.Val160Leu) | |
| 19 | g.44908696G>T | CA406303951 | APOE | c.400G>T (p.Val134Leu) c.478G>T (p.Val160Leu) | |
| 19 | g.44908697T>A | CA406303952 | APOE | c.401T>A (p.Val134Glu) c.479T>A (p.Val160Glu) | |
| 19 | g.44908697T>C | CA406303953 | APOE | c.401T>C (p.Val134Ala) c.479T>C (p.Val160Ala) | |
| 19 | g.44908697T>G | CA406303954 | APOE | c.401T>G (p.Val134Gly) c.479T>G (p.Val160Gly) | |
| 19 | g.44908698G>A | CA507947560 | APOE | c.402G>A (p.Val134=) c.480G>A (p.Val160=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908698G>C | CA507947561 | APOE | c.402G>C (p.Val134=) c.480G>C (p.Val160=) | |
| 19 | g.44908698G= | CA2338167555 | APOE | c.402G= (p.Val134=) c.480G= (p.Val160=) | |
| 19 | g.44908698G>T | CA507947562 | APOE | c.402G>T (p.Val134=) c.480G>T (p.Val160=) | gnomAD v4 |
| 19 | g.44908699C>A | CA406303955 | APOE | c.403C>A (p.Gln135Lys) c.481C>A (p.Gln161Lys) | gnomAD v4 |
| 19 | g.44908699C>G | CA406303956 | APOE | c.403C>G (p.Gln135Glu) c.481C>G (p.Gln161Glu) | |
| 19 | g.44908699C>T | CA406303957 | APOE | c.403C>T (p.Gln135Ter) c.481C>T (p.Gln161Ter) | gnomAD v4 |
| 19 | g.44908700A= | CA2338167559 | APOE | c.404A= (p.Gln135=) c.482A= (p.Gln161=) | |
| 19 | g.44908700A>C | CA406303958 | APOE | c.404A>C (p.Gln135Pro) c.482A>C (p.Gln161Pro) | |
| 19 | g.44908700A>G | CA9506056 | APOE | c.404A>G (p.Gln135Arg) c.482A>G (p.Gln161Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908700A>T | CA406303959 | APOE | c.404A>T (p.Gln135Leu) c.482A>T (p.Gln161Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908703_44908704insGAGTA | CA2695228861 | APOE | c.407_408insGAGTA (p.Tyr136Ter) c.485_486insGAGTA (p.Tyr162Ter) | |
| 19 | g.44908701G>A | CA9506057 | APOE | c.405G>A (p.Gln135=) c.483G>A (p.Gln161=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908701G>C | CA406303960 | APOE | c.405G>C (p.Gln135His) c.483G>C (p.Gln161His) | |
| 19 | g.44908701G= | CA2338167562 | APOE | c.405G= (p.Gln135=) c.483G= (p.Gln161=) | |
| 19 | g.44908701G>T | CA406303961 | APOE | c.405G>T (p.Gln135His) c.483G>T (p.Gln161His) | |
| 19 | g.44908702T>A | CA406303962 | APOE | c.406T>A (p.Tyr136Asn) c.484T>A (p.Tyr162Asn) | |
| 19 | g.44908702T>C | CA406303963 | APOE | c.406T>C (p.Tyr136His) c.484T>C (p.Tyr162His) | dbSNP gnomAD v4 |
| 19 | g.44908702T>G | CA406303964 | APOE | c.406T>G (p.Tyr136Asp) c.484T>G (p.Tyr162Asp) | |
| 19 | g.44908702T= | CA2338167565 | APOE | c.406T= (p.Tyr136=) c.484T= (p.Tyr162=) | |
| 19 | g.44908703A= | CA2338167567 | APOE | c.407A= (p.Tyr136=) c.485A= (p.Tyr162=) | |
| 19 | g.44908703A>C | CA406303965 | APOE | c.407A>C (p.Tyr136Ser) c.485A>C (p.Tyr162Ser) | |
| 19 | g.44908703A>G | CA406303966 | APOE | c.407A>G (p.Tyr136Cys) c.485A>G (p.Tyr162Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908703A>T | CA406303967 | APOE | c.407A>T (p.Tyr136Phe) c.485A>T (p.Tyr162Phe) | |
| 19 | g.44908704C>A | CA406303968 | APOE | c.408C>A (p.Tyr136Ter) c.486C>A (p.Tyr162Ter) | |
| 19 | g.44908704C>G | CA406303969 | APOE | c.408C>G (p.Tyr136Ter) c.486C>G (p.Tyr162Ter) | |
| 19 | g.44908704C>T | CA507947572 | APOE | c.408C>T (p.Tyr136=) c.486C>T (p.Tyr162=) | dbSNP gnomAD v4 |
| 19 | g.44908705C>A | CA406303970 | APOE | c.409C>A (p.Arg137Ser) c.487C>A (p.Arg163Ser) | |
| 19 | g.44908705C= | CA2338167569 | APOE | c.409C= (p.Arg137=) c.487C= (p.Arg163=) | |
| 19 | g.44908705C>G | CA406303971 | APOE | c.409C>G (p.Arg137Gly) c.487C>G (p.Arg163Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908705C>T | CA9506058 | APOE | c.409C>T (p.Arg137Cys) c.487C>T (p.Arg163Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908705_44908706insATTCGACGTCACA | CA2695228862 | APOE | c.409_410insATTCGACGTCACA (p.Arg137HisfsTer32) c.487_488insATTCGACGTCACA (p.Arg163HisfsTer32) | |
| 19 | g.44908706G>A | CA308885519 | APOE | c.410G>A (p.Arg137His) c.488G>A (p.Arg163His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44908706G>C | CA406303973 | APOE | c.410G>C (p.Arg137Pro) c.488G>C (p.Arg163Pro) | |
| 19 | g.44908706G= | CA2338167572 | APOE | c.410G= (p.Arg137=) c.488G= (p.Arg163=) | |
| 19 | g.44908706G>T | CA406303972 | APOE | c.410G>T (p.Arg137Leu) c.488G>T (p.Arg163Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908707C>A | CA507947579 | APOE | c.411C>A (p.Arg137=) c.489C>A (p.Arg163=) | gnomAD v4 |
| 19 | g.44908707C= | CA2338167580 | APOE | c.411C= (p.Arg137=) c.489C= (p.Arg163=) | |
| 19 | g.44908707C>G | CA507947580 | APOE | c.411C>G (p.Arg137=) c.489C>G (p.Arg163=) | dbSNP |
| 19 | g.44908707C>T | CA507947581 | APOE | c.411C>T (p.Arg137=) c.489C>T (p.Arg163=) | |
| 19 | g.44908711_44908731dup | CA127504 | APOE | c.415_435dup (p.Gly145_Gln146insGluValGlnAlaMetLeuGly) c.493_513dup (p.Gly171_Gln172insGluValGlnAlaMetLeuGly) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908708G>A | CA9506059 | APOE | c.412G>A (p.Gly138Ser) c.490G>A (p.Gly164Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908708G>C | CA406303974 | APOE | c.412G>C (p.Gly138Arg) c.490G>C (p.Gly164Arg) | |
| 19 | g.44908708G= | CA2338167583 | APOE | c.412G= (p.Gly138=) c.490G= (p.Gly164=) | |
| 19 | g.44908708G>T | CA406303975 | APOE | c.412G>T (p.Gly138Cys) c.490G>T (p.Gly164Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908709G>A | CA406303976 | APOE | c.413G>A (p.Gly138Asp) c.491G>A (p.Gly164Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908709G>C | CA406303977 | APOE | c.413G>C (p.Gly138Ala) c.491G>C (p.Gly164Ala) | gnomAD v4 |
| 19 | g.44908709G= | CA2338167588 | APOE | c.413G= (p.Gly138=) c.491G= (p.Gly164=) | |
| 19 | g.44908709G>T | CA406303978 | APOE | c.413G>T (p.Gly138Val) c.491G>T (p.Gly164Val) | gnomAD v4 |
| 19 | g.44908710C>A | CA507947589 | APOE | c.414C>A (p.Gly138=) c.492C>A (p.Gly164=) | gnomAD v4 |
| 19 | g.44908710C= | CA2338167591 | APOE | c.414C= (p.Gly138=) c.492C= (p.Gly164=) | |
| 19 | g.44908710C>G | CA507947586 | APOE | c.414C>G (p.Gly138=) c.492C>G (p.Gly164=) | |
| 19 | g.44908710C>T | CA507947587 | APOE | c.414C>T (p.Gly138=) c.492C>T (p.Gly164=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908711G>A | CA406303979 | APOE | c.415G>A (p.Glu139Lys) c.493G>A (p.Glu165Lys) | gnomAD v4 |
| 19 | g.44908711G>C | CA406303980 | APOE | c.415G>C (p.Glu139Gln) c.493G>C (p.Glu165Gln) | |
| 19 | g.44908711G>T | CA406303981 | APOE | c.415G>T (p.Glu139Ter) c.493G>T (p.Glu165Ter) | gnomAD v4 |
| 19 | g.44908712A= | CA2338167593 | APOE | c.416A= (p.Glu139=) c.494A= (p.Glu165=) | |
| 19 | g.44908712A>C | CA406303982 | APOE | c.416A>C (p.Glu139Ala) c.494A>C (p.Glu165Ala) | |
| 19 | g.44908712A>G | CA406303983 | APOE | c.416A>G (p.Glu139Gly) c.494A>G (p.Glu165Gly) | ClinVar |
| 19 | g.44908712A>T | CA308885532 | APOE | c.416A>T (p.Glu139Val) c.494A>T (p.Glu165Val) | dbSNP |
| 19 | g.44908713G>A | CA9506060 | APOE | c.417G>A (p.Glu139=) c.495G>A (p.Glu165=) | dbSNP ExAC |
| 19 | g.44908713G>C | CA406303985 | APOE | c.417G>C (p.Glu139Asp) c.495G>C (p.Glu165Asp) | |
| 19 | g.44908713G= | CA2338167598 | APOE | c.417G= (p.Glu139=) c.495G= (p.Glu165=) | |
| 19 | g.44908713G>T | CA406303984 | APOE | c.417G>T (p.Glu139Asp) c.495G>T (p.Glu165Asp) | gnomAD v4 |
| 19 | g.44908714G>A | CA9506062 | APOE | c.418G>A (p.Val140Met) c.496G>A (p.Val166Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908714G>C | CA406303986 | APOE | c.418G>C (p.Val140Leu) c.496G>C (p.Val166Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908714G= | CA2338167613 | APOE | c.418G= (p.Val140=) c.496G= (p.Val166=) | |
| 19 | g.44908714G>T | CA9506061 | APOE | c.418G>T (p.Val140Leu) c.496G>T (p.Val166Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908715T>A | CA406303987 | APOE | c.419T>A (p.Val140Glu) c.497T>A (p.Val166Glu) | |
| 19 | g.44908715T>C | CA406303988 | APOE | c.419T>C (p.Val140Ala) c.497T>C (p.Val166Ala) | |
| 19 | g.44908715T>G | CA406303989 | APOE | c.419T>G (p.Val140Gly) c.497T>G (p.Val166Gly) | |
| 19 | g.44908716G>A | CA507947601 | APOE | c.420G>A (p.Val140=) c.498G>A (p.Val166=) | gnomAD v4 |
| 19 | g.44908716G>C | CA507947602 | APOE | c.420G>C (p.Val140=) c.498G>C (p.Val166=) | |
| 19 | g.44908716G>T | CA507947603 | APOE | c.420G>T (p.Val140=) c.498G>T (p.Val166=) | gnomAD v4 |
| 19 | g.44908717C>A | CA406303990 | APOE | c.421C>A (p.Gln141Lys) c.499C>A (p.Gln167Lys) | gnomAD v4 |
| 19 | g.44908717C>G | CA406303991 | APOE | c.421C>G (p.Gln141Glu) c.499C>G (p.Gln167Glu) | |
| 19 | g.44908717C>T | CA406303992 | APOE | c.421C>T (p.Gln141Ter) c.499C>T (p.Gln167Ter) | gnomAD v4 |
| 19 | g.44908718A= | CA2338167619 | APOE | c.422A= (p.Gln141=) c.500A= (p.Gln167=) | |
| 19 | g.44908718A>C | CA406303993 | APOE | c.422A>C (p.Gln141Pro) c.500A>C (p.Gln167Pro) | gnomAD v4 |
| 19 | g.44908718A>G | CA406303994 | APOE | c.422A>G (p.Gln141Arg) c.500A>G (p.Gln167Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908718A>T | CA406303995 | APOE | c.422A>T (p.Gln141Leu) c.500A>T (p.Gln167Leu) | |
| 19 | g.44908719G>A | CA507947609 | APOE | c.423G>A (p.Gln141=) c.501G>A (p.Gln167=) | |
| 19 | g.44908719G>C | CA406303996 | APOE | c.423G>C (p.Gln141His) c.501G>C (p.Gln167His) | |
| 19 | g.44908719G>T | CA406303997 | APOE | c.423G>T (p.Gln141His) c.501G>T (p.Gln167His) | gnomAD v4 |
| 19 | g.44908720G>A | CA406304000 | APOE | c.424G>A (p.Ala142Thr) c.502G>A (p.Ala168Thr) | dbSNP |
| 19 | g.44908720G>C | CA406303999 | APOE | c.424G>C (p.Ala142Pro) c.502G>C (p.Ala168Pro) | |
| 19 | g.44908720G= | CA2338167623 | APOE | c.424G= (p.Ala142=) c.502G= (p.Ala168=) | |
| 19 | g.44908720G>T | CA406303998 | APOE | c.424G>T (p.Ala142Ser) c.502G>T (p.Ala168Ser) | gnomAD v4 |
| 19 | g.44908721C>A | CA406304001 | APOE | c.425C>A (p.Ala142Asp) c.503C>A (p.Ala168Asp) | gnomAD v4 |
| 19 | g.44908721C>G | CA406304002 | APOE | c.425C>G (p.Ala142Gly) c.503C>G (p.Ala168Gly) | |
| 19 | g.44908721C>T | CA406304003 | APOE | c.425C>T (p.Ala142Val) c.503C>T (p.Ala168Val) | gnomAD v4 COSMIC |
| 19 | g.44908722C>A | CA308885549 | APOE | c.426C>A (p.Ala142=) c.504C>A (p.Ala168=) | dbSNP |
| 19 | g.44908722C= | CA2338167625 | APOE | c.426C= (p.Ala142=) c.504C= (p.Ala168=) | |
| 19 | g.44908722C>G | CA507947619 | APOE | c.426C>G (p.Ala142=) c.504C>G (p.Ala168=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908722C>T | CA507947621 | APOE | c.426C>T (p.Ala142=) c.504C>T (p.Ala168=) | |
| 19 | g.44908723A= | CA2338167629 | APOE | c.427A= (p.Met143=) c.505A= (p.Met169=) | |
| 19 | g.44908723A>C | CA9506064 | APOE | c.427A>C (p.Met143Leu) c.505A>C (p.Met169Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908723A>G | CA406304004 | APOE | c.427A>G (p.Met143Val) c.505A>G (p.Met169Val) | |
| 19 | g.44908723A>T | CA9506063 | APOE | c.427A>T (p.Met143Leu) c.505A>T (p.Met169Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908724T>A | CA406304005 | APOE | c.428T>A (p.Met143Lys) c.506T>A (p.Met169Lys) | |
| 19 | g.44908724T>C | CA406304006 | APOE | c.428T>C (p.Met143Thr) c.506T>C (p.Met169Thr) | gnomAD v4 |
| 19 | g.44908724T>G | CA406304007 | APOE | c.428T>G (p.Met143Arg) c.506T>G (p.Met169Arg) | |
| 19 | g.44908725G>A | CA406304008 | APOE | c.429G>A (p.Met143Ile) c.507G>A (p.Met169Ile) | gnomAD v4 COSMIC |
| 19 | g.44908725G>C | CA406304009 | APOE | c.429G>C (p.Met143Ile) c.507G>C (p.Met169Ile) | |
| 19 | g.44908725G>T | CA406304010 | APOE | c.429G>T (p.Met143Ile) c.507G>T (p.Met169Ile) | |
| 19 | g.44908726C>A | CA406304013 | APOE | c.430C>A (p.Leu144Ile) c.508C>A (p.Leu170Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908726C= | CA2338167634 | APOE | c.430C= (p.Leu144=) c.508C= (p.Leu170=) | |
| 19 | g.44908726C>G | CA406304011 | APOE | c.430C>G (p.Leu144Val) c.508C>G (p.Leu170Val) | |
| 19 | g.44908726C>T | CA406304012 | APOE | c.430C>T (p.Leu144Phe) c.508C>T (p.Leu170Phe) | gnomAD v4 |
| 19 | g.44908727T>A | CA406304014 | APOE | c.431T>A (p.Leu144His) c.509T>A (p.Leu170His) | |
| 19 | g.44908727T>C | CA406304015 | APOE | c.431T>C (p.Leu144Pro) c.509T>C (p.Leu170Pro) | |
| 19 | g.44908727T>G | CA406304016 | APOE | c.431T>G (p.Leu144Arg) c.509T>G (p.Leu170Arg) | gnomAD v4 |
| 19 | g.44908728C>A | CA507947634 | APOE | c.432C>A (p.Leu144=) c.510C>A (p.Leu170=) | gnomAD v4 |
| 19 | g.44908728C= | CA2338167640 | APOE | c.432C= (p.Leu144=) c.510C= (p.Leu170=) | |
| 19 | g.44908728C>G | CA507947635 | APOE | c.432C>G (p.Leu144=) c.510C>G (p.Leu170=) | gnomAD v4 |
| 19 | g.44908728C>T | CA507947637 | APOE | c.432C>T (p.Leu144=) c.510C>T (p.Leu170=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908729G>A | CA9506065 | APOE | c.433G>A (p.Gly145Ser) c.511G>A (p.Gly171Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908729G>C | CA406304017 | APOE | c.433G>C (p.Gly145Arg) c.511G>C (p.Gly171Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908729G= | CA2338167645 | APOE | c.433G= (p.Gly145=) c.511G= (p.Gly171=) | |
| 19 | g.44908729G>T | CA308885595 | APOE | c.433G>T (p.Gly145Cys) c.511G>T (p.Gly171Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908730G>A | CA041273 | APOE | c.434G>A (p.Gly145Asp) c.512G>A (p.Gly171Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44908730G>A;44908822C>T] | CA041311 | APOE | c.[434G>A;526C>T] (p.[Gly145Asp;Arg176Cys]) c.[512G>A;604C>T] (p.[Gly171Asp;Arg202Cys]) | |
| 19 | g.44908730G>C | CA406304018 | APOE | c.434G>C (p.Gly145Ala) c.512G>C (p.Gly171Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908730G= | CA2338167652 | APOE | c.434G= (p.Gly145=) c.512G= (p.Gly171=) | |
| 19 | g.44908730G>T | CA406304019 | APOE | c.434G>T (p.Gly145Val) c.512G>T (p.Gly171Val) | gnomAD v4 |
| 19 | g.44908731C>A | CA507947643 | APOE | c.435C>A (p.Gly145=) c.513C>A (p.Gly171=) | gnomAD v4 |
| 19 | g.44908731C= | CA2338167657 | APOE | c.435C= (p.Gly145=) c.513C= (p.Gly171=) | |
| 19 | g.44908731C>G | CA507947646 | APOE | c.435C>G (p.Gly145=) c.513C>G (p.Gly171=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908731C>T | CA507947644 | APOE | c.435C>T (p.Gly145=) c.513C>T (p.Gly171=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908732C>A | CA406304020 | APOE | c.436C>A (p.Gln146Lys) c.514C>A (p.Gln172Lys) | gnomAD v4 |
| 19 | g.44908732C= | CA2338167659 | APOE | c.436C= (p.Gln146=) c.514C= (p.Gln172=) | |
| 19 | g.44908732C>G | CA406304021 | APOE | c.436C>G (p.Gln146Glu) c.514C>G (p.Gln172Glu) | |
| 19 | g.44908732C>T | CA406304022 | APOE | c.436C>T (p.Gln146Ter) c.514C>T (p.Gln172Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908733A= | CA2338167661 | APOE | c.437A= (p.Gln146=) c.515A= (p.Gln172=) | |
| 19 | g.44908733A>C | CA406304023 | APOE | c.437A>C (p.Gln146Pro) c.515A>C (p.Gln172Pro) | |
| 19 | g.44908733A>G | CA406304025 | APOE | c.437A>G (p.Gln146Arg) c.515A>G (p.Gln172Arg) | gnomAD v4 |
| 19 | g.44908733A>T | CA406304024 | APOE | c.437A>T (p.Gln146Leu) c.515A>T (p.Gln172Leu) | |
| 19 | g.44908734G>A | CA507947653 | APOE | c.438G>A (p.Gln146=) c.516G>A (p.Gln172=) | gnomAD v4 |
| 19 | g.44908734G>C | CA406304026 | APOE | c.438G>C (p.Gln146His) c.516G>C (p.Gln172His) | |
| 19 | g.44908734G>T | CA406304027 | APOE | c.438G>T (p.Gln146His) c.516G>T (p.Gln172His) | gnomAD v4 |
| 19 | g.44908737_44908743dup | CA882663992 | APOE | c.441_447dup (p.Glu150HisfsTer17) c.519_525dup (p.Glu176HisfsTer17) | dbSNP |
| 19 | g.44908735A>C | CA406304028 | APOE | c.439A>C (p.Ser147Arg) c.517A>C (p.Ser173Arg) | |
| 19 | g.44908735A>G | CA406304029 | APOE | c.439A>G (p.Ser147Gly) c.517A>G (p.Ser173Gly) | |
| 19 | g.44908735A>T | CA406304030 | APOE | c.439A>T (p.Ser147Cys) c.517A>T (p.Ser173Cys) | |
| 19 | g.44908736G>A | CA406304031 | APOE | c.440G>A (p.Ser147Asn) c.518G>A (p.Ser173Asn) | gnomAD v4 COSMIC |
| 19 | g.44908736G>C | CA406304032 | APOE | c.440G>C (p.Ser147Thr) c.518G>C (p.Ser173Thr) | gnomAD v4 |
| 19 | g.44908736G>T | CA406304033 | APOE | c.440G>T (p.Ser147Ile) c.518G>T (p.Ser173Ile) | gnomAD v4 |
| 19 | g.44908737C>A | CA406304034 | APOE | c.441C>A (p.Ser147Arg) c.519C>A (p.Ser173Arg) | gnomAD v4 |
| 19 | g.44908737C= | CA2338167667 | APOE | c.441C= (p.Ser147=) c.519C= (p.Ser173=) | |
| 19 | g.44908737C>G | CA406304035 | APOE | c.441C>G (p.Ser147Arg) c.519C>G (p.Ser173Arg) | |
| 19 | g.44908737C>T | CA507947662 | APOE | c.441C>T (p.Ser147=) c.519C>T (p.Ser173=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908738A>C | CA406304036 | APOE | c.442A>C (p.Thr148Pro) c.520A>C (p.Thr174Pro) | |
| 19 | g.44908738A>G | CA406304037 | APOE | c.442A>G (p.Thr148Ala) c.520A>G (p.Thr174Ala) | |
| 19 | g.44908738A>T | CA406304038 | APOE | c.442A>T (p.Thr148Ser) c.520A>T (p.Thr174Ser) | |
| 19 | g.44908739C>A | CA406304040 | APOE | c.443C>A (p.Thr148Asn) c.521C>A (p.Thr174Asn) | |
| 19 | g.44908739C= | CA2338167671 | APOE | c.443C= (p.Thr148=) c.521C= (p.Thr174=) | |
| 19 | g.44908739C>G | CA406304039 | APOE | c.443C>G (p.Thr148Ser) c.521C>G (p.Thr174Ser) | |
| 19 | g.44908739C>T | CA308885618 | APOE | c.443C>T (p.Thr148Ile) c.521C>T (p.Thr174Ile) | dbSNP gnomAD v4 |
| 19 | g.44908740C>A | CA507947665 | APOE | c.444C>A (p.Thr148=) c.522C>A (p.Thr174=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908740C= | CA2338167673 | APOE | c.444C= (p.Thr148=) c.522C= (p.Thr174=) | |
| 19 | g.44908740C>G | CA9506066 | APOE | c.444C>G (p.Thr148=) c.522C>G (p.Thr174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908740C>T | CA507947664 | APOE | c.444C>T (p.Thr148=) c.522C>T (p.Thr174=) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44908741G>A | CA406304041 | APOE | c.445G>A (p.Glu149Lys) c.523G>A (p.Glu175Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908741G>C | CA406304042 | APOE | c.445G>C (p.Glu149Gln) c.523G>C (p.Glu175Gln) | gnomAD v4 |
| 19 | g.44908741G= | CA2338167679 | APOE | c.445G= (p.Glu149=) c.523G= (p.Glu175=) | |
| 19 | g.44908741G>T | CA406304043 | APOE | c.445G>T (p.Glu149Ter) c.523G>T (p.Glu175Ter) | gnomAD v4 |
| 19 | g.44908756_44908757insTCTGGGAAGGGCTGGGCAGCAGAGGAGCTGCGGGTGC | CA9506067 | APOE | c.460_461insTCTGGGAAGGGCTGGGCAGCAGAGGAGCTGCGGGTGC (p.Arg154LeufsTer23) c.538_539insTCTGGGAAGGGCTGGGCAGCAGAGGAGCTGCGGGTGC (p.Arg180LeufsTer23) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908742A>C | CA406304044 | APOE | c.446A>C (p.Glu149Ala) c.524A>C (p.Glu175Ala) | |
| 19 | g.44908742A>G | CA406304045 | APOE | c.446A>G (p.Glu149Gly) c.524A>G (p.Glu175Gly) | gnomAD v4 |
| 19 | g.44908742A>T | CA406304046 | APOE | c.446A>T (p.Glu149Val) c.524A>T (p.Glu175Val) | |
| 19 | g.44908743G>A | CA507947668 | APOE | c.447G>A (p.Glu149=) c.525G>A (p.Glu175=) | gnomAD v4 |
| 19 | g.44908743G>C | CA9506068 | APOE | c.447G>C (p.Glu149Asp) c.525G>C (p.Glu175Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908743G= | CA2338167684 | APOE | c.447G= (p.Glu149=) c.525G= (p.Glu175=) | |
| 19 | g.44908743G>T | CA406304047 | APOE | c.447G>T (p.Glu149Asp) c.525G>T (p.Glu175Asp) | gnomAD v4 |
| 19 | g.44908744G>A | CA406304048 | APOE | c.448G>A (p.Glu150Lys) c.526G>A (p.Glu176Lys) | gnomAD v4 |
| 19 | g.44908744G>C | CA406304049 | APOE | c.448G>C (p.Glu150Gln) c.526G>C (p.Glu176Gln) | |
| 19 | g.44908744G>T | CA406304050 | APOE | c.448G>T (p.Glu150Ter) c.526G>T (p.Glu176Ter) | gnomAD v4 |
| 19 | g.44908745A= | CA2338167686 | APOE | c.449A= (p.Glu150=) c.527A= (p.Glu176=) | |
| 19 | g.44908745A>C | CA406304052 | APOE | c.449A>C (p.Glu150Ala) c.527A>C (p.Glu176Ala) | |
| 19 | g.44908745A>G | CA308885645 | APOE | c.449A>G (p.Glu150Gly) c.527A>G (p.Glu176Gly) | dbSNP gnomAD v4 |
| 19 | g.44908745A>T | CA406304051 | APOE | c.449A>T (p.Glu150Val) c.527A>T (p.Glu176Val) | |
| 19 | g.44908746G>A | CA507947679 | APOE | c.450G>A (p.Glu150=) c.528G>A (p.Glu176=) | gnomAD v4 |
| 19 | g.44908746G>C | CA406304053 | APOE | c.450G>C (p.Glu150Asp) c.528G>C (p.Glu176Asp) | |
| 19 | g.44908746G>T | CA406304054 | APOE | c.450G>T (p.Glu150Asp) c.528G>T (p.Glu176Asp) | gnomAD v4 |
| 19 | g.44908747C>A | CA345323 | APOE | c.451C>A (p.Leu151Met) c.529C>A (p.Leu177Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908747C= | CA2338167691 | APOE | c.451C= (p.Leu151=) c.529C= (p.Leu177=) | |
| 19 | g.44908747C>G | CA406304055 | APOE | c.451C>G (p.Leu151Val) c.529C>G (p.Leu177Val) | gnomAD v4 |
| 19 | g.44908747C>T | CA507947683 | APOE | c.451C>T (p.Leu151=) c.529C>T (p.Leu177=) | |
| 19 | g.44908748T>A | CA406304056 | APOE | c.452T>A (p.Leu151Gln) c.530T>A (p.Leu177Gln) | |
| 19 | g.44908748T>C | CA406304057 | APOE | c.452T>C (p.Leu151Pro) c.530T>C (p.Leu177Pro) | gnomAD v4 |
| 19 | g.44908748T>G | CA406304058 | APOE | c.452T>G (p.Leu151Arg) c.530T>G (p.Leu177Arg) | dbSNP gnomAD v4 |
| 19 | g.44908748T= | CA2338167694 | APOE | c.452T= (p.Leu151=) c.530T= (p.Leu177=) | |
| 19 | g.44908749G>A | CA507947687 | APOE | c.453G>A (p.Leu151=) c.531G>A (p.Leu177=) | gnomAD v4 |
| 19 | g.44908749G>C | CA9506069 | APOE | c.453G>C (p.Leu151=) c.531G>C (p.Leu177=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908749G= | CA2338167698 | APOE | c.453G= (p.Leu151=) c.531G= (p.Leu177=) | |
| 19 | g.44908749G>T | CA507947689 | APOE | c.453G>T (p.Leu151=) c.531G>T (p.Leu177=) | dbSNP gnomAD v4 |
| 19 | g.44908750C>A | CA507947690 | APOE | c.454C>A (p.Arg152=) c.532C>A (p.Arg178=) | gnomAD v4 |
| 19 | g.44908750C= | CA2338167701 | APOE | c.454C= (p.Arg152=) c.532C= (p.Arg178=) | |
| 19 | g.44908750C>G | CA406304059 | APOE | c.454C>G (p.Arg152Gly) c.532C>G (p.Arg178Gly) | |
| 19 | g.44908750C>T | CA9506070 | APOE | c.454C>T (p.Arg152Trp) c.532C>T (p.Arg178Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908751G>A | CA127517 | APOE | c.455G>A (p.Arg152Gln) c.533G>A (p.Arg178Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908751G>C | CA308885664 | APOE | c.455G>C (p.Arg152Pro) c.533G>C (p.Arg178Pro) | dbSNP |
| 19 | g.44908751G= | CA2338167706 | APOE | c.455G= (p.Arg152=) c.533G= (p.Arg178=) | |
| 19 | g.44908751G>T | CA406304060 | APOE | c.455G>T (p.Arg152Leu) c.533G>T (p.Arg178Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908753del | CA2585715439 | APOE | c.457del (p.Val153CysfsTer?) c.535del (p.Val179CysfsTer?) | gnomAD v4 |
| 19 | g.44908752G>A | CA507947697 | APOE | c.456G>A (p.Arg152=) c.534G>A (p.Arg178=) | gnomAD v4 |
| 19 | g.44908752G>C | CA507947698 | APOE | c.456G>C (p.Arg152=) c.534G>C (p.Arg178=) | |
| 19 | g.44908752G= | CA2338167709 | APOE | c.456G= (p.Arg152=) c.534G= (p.Arg178=) | |
| 19 | g.44908752G>T | CA507947699 | APOE | c.456G>T (p.Arg152=) c.534G>T (p.Arg178=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908753G>A | CA308885673 | APOE | c.457G>A (p.Val153Met) c.535G>A (p.Val179Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908753G>C | CA406304062 | APOE | c.457G>C (p.Val153Leu) c.535G>C (p.Val179Leu) | |
| 19 | g.44908753G= | CA2338167713 | APOE | c.457G= (p.Val153=) c.535G= (p.Val179=) | |
| 19 | g.44908753G>T | CA406304061 | APOE | c.457G>T (p.Val153Leu) c.535G>T (p.Val179Leu) | gnomAD v4 |
| 19 | g.44908753_44908776dup | CA2582192292 | APOE | c.457_480dup (p.Arg160_Lys161insValArgLeuAlaSerHisLeuArg) c.535_558dup (p.Arg186_Lys187insValArgLeuAlaSerHisLeuArg) | gnomAD v3 gnomAD v4 |
| 19 | g.44908754T>A | CA406304063 | APOE | c.458T>A (p.Val153Glu) c.536T>A (p.Val179Glu) | gnomAD v4 |
| 19 | g.44908754T>C | CA406304064 | APOE | c.458T>C (p.Val153Ala) c.536T>C (p.Val179Ala) | dbSNP gnomAD v4 |
| 19 | g.44908754T>G | CA406304065 | APOE | c.458T>G (p.Val153Gly) c.536T>G (p.Val179Gly) | |
| 19 | g.44908754T= | CA2338167716 | APOE | c.458T= (p.Val153=) c.536T= (p.Val179=) | |
| 19 | g.44908755G>A | CA507947704 | APOE | c.459G>A (p.Val153=) c.537G>A (p.Val179=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908755G>C | CA507947705 | APOE | c.459G>C (p.Val153=) c.537G>C (p.Val179=) | |
| 19 | g.44908755G= | CA2338167718 | APOE | c.459G= (p.Val153=) c.537G= (p.Val179=) | |
| 19 | g.44908755G>T | CA507947706 | APOE | c.459G>T (p.Val153=) c.537G>T (p.Val179=) | gnomAD v4 |
| 19 | g.44908756C>A | CA127501 | APOE | c.460C>A (p.Arg154Ser) c.538C>A (p.Arg180Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908756C= | CA2338167722 | APOE | c.460C= (p.Arg154=) c.538C= (p.Arg180=) | |
| 19 | g.44908756C>G | CA406304066 | APOE | c.460C>G (p.Arg154Gly) c.538C>G (p.Arg180Gly) | |
| 19 | g.44908756C>T | CA9506071 | APOE | c.460C>T (p.Arg154Cys) c.538C>T (p.Arg180Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908757G>A | CA406304067 | APOE | c.461G>A (p.Arg154His) c.539G>A (p.Arg180His) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908757G>C | CA308885705 | APOE | c.461G>C (p.Arg154Pro) c.539G>C (p.Arg180Pro) | dbSNP |
| 19 | g.44908757G= | CA2338167723 | APOE | c.461G= (p.Arg154=) c.539G= (p.Arg180=) | |
| 19 | g.44908757G>T | CA16044403 | APOE | c.461G>T (p.Arg154Leu) c.539G>T (p.Arg180Leu) | ClinVar dbSNP gnomAD v4 |