Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44907894_44907914dup | CA2585715224 | APOE | c.178_198dup (p.Gln66_Glu67insThrLeuSerGluGlnValGln) c.256_276dup (p.Gln92_Glu93insThrLeuSerGluGlnValGln) | gnomAD v4 |
19 | g.44907900_44907903del | CA2338167376 | APOE | c.184_187del (p.Glu63ArgfsTer15) c.262_265del (p.Glu89ArgfsTer15) | dbSNP gnomAD v4 |
19 | g.44907902T>A | CA507799041 | APOE | c.186T>A (p.Ser62=) c.264T>A (p.Ser88=) | |
19 | g.44907902T>C | CA507799042 | APOE | c.186T>C (p.Ser62=) c.264T>C (p.Ser88=) | |
19 | g.44907902T>G | CA507799043 | APOE | c.186T>G (p.Ser62=) c.264T>G (p.Ser88=) | |
19 | g.44907903G>A | CA406303485 | APOE | c.187G>A (p.Glu63Lys) c.265G>A (p.Glu89Lys) | |
19 | g.44907903G>C | CA406303486 | APOE | c.187G>C (p.Glu63Gln) c.265G>C (p.Glu89Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907903G= | CA2338167378 | APOE | c.187G= (p.Glu63=) c.265G= (p.Glu89=) | |
19 | g.44907903G>T | CA406303487 | APOE | c.187G>T (p.Glu63Ter) c.265G>T (p.Glu89Ter) | |
19 | g.44907904_44907905dup | CA2585715227 | APOE | c.188_189dup (p.Gln64SerfsTer16) c.266_267dup (p.Gln90SerfsTer16) | gnomAD v4 |
19 | g.44907904A>C | CA406303488 | APOE | c.188A>C (p.Glu63Ala) c.266A>C (p.Glu89Ala) | |
19 | g.44907904A>G | CA406303489 | APOE | c.188A>G (p.Glu63Gly) c.266A>G (p.Glu89Gly) | |
19 | g.44907904A>T | CA406303490 | APOE | c.188A>T (p.Glu63Val) c.266A>T (p.Glu89Val) | |
19 | g.44907905G>A | CA507799044 | APOE | c.189G>A (p.Glu63=) c.267G>A (p.Glu89=) | |
19 | g.44907905G>C | CA406303491 | APOE | c.189G>C (p.Glu63Asp) c.267G>C (p.Glu89Asp) | dbSNP |
19 | g.44907905G= | CA2338167379 | APOE | c.189G= (p.Glu63=) c.267G= (p.Glu89=) | |
19 | g.44907905G>T | CA406303492 | APOE | c.189G>T (p.Glu63Asp) c.267G>T (p.Glu89Asp) | |
19 | g.44907906C>A | CA406303493 | APOE | c.190C>A (p.Gln64Lys) c.268C>A (p.Gln90Lys) | |
19 | g.44907906C>G | CA406303494 | APOE | c.190C>G (p.Gln64Glu) c.268C>G (p.Gln90Glu) | |
19 | g.44907906C>T | CA406303495 | APOE | c.190C>T (p.Gln64Ter) c.268C>T (p.Gln90Ter) | |
19 | g.44907907A>C | CA406303496 | APOE | c.191A>C (p.Gln64Pro) c.269A>C (p.Gln90Pro) | |
19 | g.44907907A>G | CA406303497 | APOE | c.191A>G (p.Gln64Arg) c.269A>G (p.Gln90Arg) | |
19 | g.44907907A>T | CA406303498 | APOE | c.191A>T (p.Gln64Leu) c.269A>T (p.Gln90Leu) | gnomAD v4 |
19 | g.44907908G>A | CA9505997 | APOE | c.192G>A (p.Gln64=) c.270G>A (p.Gln90=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907908G>C | CA9505996 | APOE | c.192G>C (p.Gln64His) c.270G>C (p.Gln90His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907908G= | CA2338167380 | APOE | c.192G= (p.Gln64=) c.270G= (p.Gln90=) | |
19 | g.44907908G>T | CA406303499 | APOE | c.192G>T (p.Gln64His) c.270G>T (p.Gln90His) | |
19 | g.44907909G>A | CA406303500 | APOE | c.193G>A (p.Val65Met) c.271G>A (p.Val91Met) | |
19 | g.44907909G>C | CA406303501 | APOE | c.193G>C (p.Val65Leu) c.271G>C (p.Val91Leu) | |
19 | g.44907909G>T | CA406303502 | APOE | c.193G>T (p.Val65Leu) c.271G>T (p.Val91Leu) | ClinVar gnomAD v4 |
19 | g.44907910T>A | CA406303503 | APOE | c.194T>A (p.Val65Glu) c.272T>A (p.Val91Glu) | |
19 | g.44907910T>C | CA406303504 | APOE | c.194T>C (p.Val65Ala) c.272T>C (p.Val91Ala) | gnomAD v4 |
19 | g.44907910T>G | CA406303505 | APOE | c.194T>G (p.Val65Gly) c.272T>G (p.Val91Gly) | gnomAD v4 |
19 | g.44907911G>A | CA507799045 | APOE | c.195G>A (p.Val65=) c.273G>A (p.Val91=) | gnomAD v4 |
19 | g.44907911G>C | CA507799047 | APOE | c.195G>C (p.Val65=) c.273G>C (p.Val91=) | dbSNP |
19 | g.44907911G= | CA2338167381 | APOE | c.195G= (p.Val65=) c.273G= (p.Val91=) | |
19 | g.44907911G>T | CA507799046 | APOE | c.195G>T (p.Val65=) c.273G>T (p.Val91=) | |
19 | g.44907912C>A | CA406303508 | APOE | c.196C>A (p.Gln66Lys) c.274C>A (p.Gln92Lys) | |
19 | g.44907912C>G | CA406303506 | APOE | c.196C>G (p.Gln66Glu) c.274C>G (p.Gln92Glu) | |
19 | g.44907912C>T | CA406303507 | APOE | c.196C>T (p.Gln66Ter) c.274C>T (p.Gln92Ter) | |
19 | g.44907912_44907915delinsCAGG | CA2338167382 | APOE | c.196_199delinsCAGG (p.Gln66=) c.274_277delinsCAGG (p.Gln92=) | |
19 | g.44907913A>C | CA406303509 | APOE | c.197A>C (p.Gln66Pro) c.275A>C (p.Gln92Pro) | |
19 | g.44907913A>G | CA406303510 | APOE | c.197A>G (p.Gln66Arg) c.275A>G (p.Gln92Arg) | |
19 | g.44907913A>T | CA406303511 | APOE | c.197A>T (p.Gln66Leu) c.275A>T (p.Gln92Leu) | |
19 | g.44907918_44907920del | CA633314746 | APOE | c.202_204del (p.Glu68del) c.280_282del (p.Glu94del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907914G>A | CA507799048 | APOE | c.198G>A (p.Gln66=) c.276G>A (p.Gln92=) | |
19 | g.44907914G>C | CA406303512 | APOE | c.198G>C (p.Gln66His) c.276G>C (p.Gln92His) | |
19 | g.44907914G>T | CA406303513 | APOE | c.198G>T (p.Gln66His) c.276G>T (p.Gln92His) | |
19 | g.44907915del | CA2735932573 | APOE | c.199del (p.Glu67ArgfsTer12) c.277del (p.Glu93ArgfsTer12) | dbSNP |
19 | g.44907915G>A | CA9505998 | APOE | c.199G>A (p.Glu67Lys) c.277G>A (p.Glu93Lys) | dbSNP ExAC gnomAD v2 |