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.44907901C>A | CA406303483 | APOE | c.185C>A (p.Ser62Tyr) c.263C>A (p.Ser88Tyr) | |
19 | g.44907901C>G | CA406303484 | APOE | c.185C>G (p.Ser62Cys) c.263C>G (p.Ser88Cys) | |
19 | g.44907901C>T | CA406303482 | APOE | c.185C>T (p.Ser62Phe) c.263C>T (p.Ser88Phe) | |
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) | ClinVar |
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) | ClinVar 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 |
19 | g.44907915G>C | CA406303514 | APOE | c.199G>C (p.Glu67Gln) c.277G>C (p.Glu93Gln) | |
19 | g.44907915G= | CA2338167383 | APOE | c.199G= (p.Glu67=) c.277G= (p.Glu93=) | |
19 | g.44907915G>T | CA406303515 | APOE | c.199G>T (p.Glu67Ter) c.277G>T (p.Glu93Ter) | |
19 | g.44907916_44907917dup | CA2585715228 | APOE | c.200_201dup (p.Glu68ArgfsTer12) c.278_279dup (p.Glu94ArgfsTer12) | gnomAD v4 |
19 | g.44907916A>C | CA406303516 | APOE | c.200A>C (p.Glu67Ala) c.278A>C (p.Glu93Ala) | |
19 | g.44907916A>G | CA406303517 | APOE | c.200A>G (p.Glu67Gly) c.278A>G (p.Glu93Gly) | |
19 | g.44907916A>T | CA406303518 | APOE | c.200A>T (p.Glu67Val) c.278A>T (p.Glu93Val) | |
19 | g.44907917G>A | CA507799049 | APOE | c.201G>A (p.Glu67=) c.279G>A (p.Glu93=) | dbSNP |
19 | g.44907917G>C | CA406303519 | APOE | c.201G>C (p.Glu67Asp) c.279G>C (p.Glu93Asp) | |
19 | g.44907917G= | CA2338167384 | APOE | c.201G= (p.Glu67=) c.279G= (p.Glu93=) | |
19 | g.44907917G>T | CA406303520 | APOE | c.201G>T (p.Glu67Asp) c.279G>T (p.Glu93Asp) | gnomAD v4 |
19 | g.44907918G>A | CA308884581 | APOE | c.202G>A (p.Glu68Lys) c.280G>A (p.Glu94Lys) | dbSNP |
19 | g.44907918G>C | CA406303521 | APOE | c.202G>C (p.Glu68Gln) c.280G>C (p.Glu94Gln) | |
19 | g.44907918G= | CA2338167386 | APOE | c.202G= (p.Glu68=) c.280G= (p.Glu94=) | |
19 | g.44907918G>T | CA406303522 | APOE | c.202G>T (p.Glu68Ter) c.280G>T (p.Glu94Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907919A= | CA2338167387 | APOE | c.203A= (p.Glu68=) c.281A= (p.Glu94=) | |
19 | g.44907919A>C | CA406303523 | APOE | c.203A>C (p.Glu68Ala) c.281A>C (p.Glu94Ala) | |
19 | g.44907919A>G | CA406303524 | APOE | c.203A>G (p.Glu68Gly) c.281A>G (p.Glu94Gly) | |
19 | g.44907919A>T | CA406303525 | APOE | c.203A>T (p.Glu68Val) c.281A>T (p.Glu94Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907920G>A | CA507799050 | APOE | c.204G>A (p.Glu68=) c.282G>A (p.Glu94=) | |
19 | g.44907920G>C | CA406303526 | APOE | c.204G>C (p.Glu68Asp) c.282G>C (p.Glu94Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907920G= | CA2338167388 | APOE | c.204G= (p.Glu68=) c.282G= (p.Glu94=) | |
19 | g.44907920G>T | CA406303527 | APOE | c.204G>T (p.Glu68Asp) c.282G>T (p.Glu94Asp) | |
19 | g.44907920_44907921insGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGC | CA2585715229 | APOE | c.204_205insGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGC (p.Leu69AlafsTer25) c.282_283insGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGC (p.Leu95AlafsTer25) | gnomAD v4 |
19 | g.44907921C>A | CA406303528 | APOE | c.205C>A (p.Leu69Met) c.283C>A (p.Leu95Met) | gnomAD v4 COSMIC |
19 | g.44907921C= | CA2338167390 | APOE | c.205C= (p.Leu69=) c.283C= (p.Leu95=) | |
19 | g.44907921C>G | CA406303529 | APOE | c.205C>G (p.Leu69Val) c.283C>G (p.Leu95Val) | |
19 | g.44907921C>T | CA9505999 | APOE | c.205C>T (p.Leu69=) c.283C>T (p.Leu95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907922T>A | CA406303530 | APOE | c.206T>A (p.Leu69Gln) c.284T>A (p.Leu95Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907922T>C | CA9506000 | APOE | c.206T>C (p.Leu69Pro) c.284T>C (p.Leu95Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907922T>G | CA406303531 | APOE | c.206T>G (p.Leu69Arg) c.284T>G (p.Leu95Arg) | |
19 | g.44907922T= | CA2338167391 | APOE | c.206T= (p.Leu69=) c.284T= (p.Leu95=) | |
19 | g.44907923G>A | CA507799051 | APOE | c.207G>A (p.Leu69=) c.285G>A (p.Leu95=) | dbSNP gnomAD v4 |
19 | g.44907923G>C | CA308884591 | APOE | c.207G>C (p.Leu69=) c.285G>C (p.Leu95=) | dbSNP |
19 | g.44907923G= | CA2338167392 | APOE | c.207G= (p.Leu69=) c.285G= (p.Leu95=) | |
19 | g.44907923G>T | CA507799052 | APOE | c.207G>T (p.Leu69=) c.285G>T (p.Leu95=) | |
19 | g.44907924C>A | CA406303532 | APOE | c.208C>A (p.Leu70Ile) c.286C>A (p.Leu96Ile) | |
19 | g.44907924C= | CA2338167394 | APOE | c.208C= (p.Leu70=) c.286C= (p.Leu96=) | |
19 | g.44907924C>G | CA406303533 | APOE | c.208C>G (p.Leu70Val) c.286C>G (p.Leu96Val) | |
19 | g.44907924C>T | CA406303534 | APOE | c.208C>T (p.Leu70Phe) c.286C>T (p.Leu96Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907925T>A | CA406303535 | APOE | c.209T>A (p.Leu70His) c.287T>A (p.Leu96His) | dbSNP gnomAD v4 |
19 | g.44907925T>C | CA406303536 | APOE | c.209T>C (p.Leu70Pro) c.287T>C (p.Leu96Pro) | |
19 | g.44907925T>G | CA406303537 | APOE | c.209T>G (p.Leu70Arg) c.287T>G (p.Leu96Arg) | |
19 | g.44907925T= | CA2338167395 | APOE | c.209T= (p.Leu70=) c.287T= (p.Leu96=) | |
19 | g.44907926C>A | CA507799053 | APOE | c.210C>A (p.Leu70=) c.288C>A (p.Leu96=) | |
19 | g.44907926C= | CA2338167396 | APOE | c.210C= (p.Leu70=) c.288C= (p.Leu96=) | |
19 | g.44907926C>G | CA507799054 | APOE | c.210C>G (p.Leu70=) c.288C>G (p.Leu96=) | dbSNP gnomAD v4 COSMIC |
19 | g.44907926C>T | CA9506001 | APOE | c.210C>T (p.Leu70=) c.288C>T (p.Leu96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907927A>C | CA406303538 | APOE | c.211A>C (p.Ser71Arg) c.289A>C (p.Ser97Arg) | |
19 | g.44907927A>G | CA406303539 | APOE | c.211A>G (p.Ser71Gly) c.289A>G (p.Ser97Gly) | |
19 | g.44907927A>T | CA406303540 | APOE | c.211A>T (p.Ser71Cys) c.289A>T (p.Ser97Cys) | |
19 | g.44907928G>A | CA406303543 | APOE | c.212G>A (p.Ser71Asn) c.290G>A (p.Ser97Asn) | |
19 | g.44907928G>C | CA406303541 | APOE | c.212G>C (p.Ser71Thr) c.290G>C (p.Ser97Thr) | |
19 | g.44907928G>T | CA406303542 | APOE | c.212G>T (p.Ser71Ile) c.290G>T (p.Ser97Ile) | |
19 | g.44907929C>A | CA406303544 | APOE | c.213C>A (p.Ser71Arg) c.291C>A (p.Ser97Arg) | gnomAD v4 COSMIC |
19 | g.44907929C>G | CA406303545 | APOE | c.213C>G (p.Ser71Arg) c.291C>G (p.Ser97Arg) | |
19 | g.44907929C>T | CA507799055 | APOE | c.213C>T (p.Ser71=) c.291C>T (p.Ser97=) | gnomAD v4 |
19 | g.44907930T>A | CA406303546 | APOE | c.214T>A (p.Ser72Thr) c.292T>A (p.Ser98Thr) | dbSNP |
19 | g.44907930T>C | CA308884592 | APOE | c.214T>C (p.Ser72Pro) c.292T>C (p.Ser98Pro) | dbSNP |
19 | g.44907930T>G | CA406303547 | APOE | c.214T>G (p.Ser72Ala) c.292T>G (p.Ser98Ala) | ClinVar |
19 | g.44907930T= | CA2338167399 | APOE | c.214T= (p.Ser72=) c.292T= (p.Ser98=) | |
19 | g.44907931C>A | CA406303548 | APOE | c.215C>A (p.Ser72Tyr) c.293C>A (p.Ser98Tyr) | |
19 | g.44907931C= | CA2338167401 | APOE | c.215C= (p.Ser72=) c.293C= (p.Ser98=) | |
19 | g.44907931C>G | CA406303549 | APOE | c.215C>G (p.Ser72Cys) c.293C>G (p.Ser98Cys) | |
19 | g.44907931C>T | CA406303550 | APOE | c.215C>T (p.Ser72Phe) c.293C>T (p.Ser98Phe) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907932C>A | CA507799057 | APOE | c.216C>A (p.Ser72=) c.294C>A (p.Ser98=) | |
19 | g.44907932C>G | CA507799058 | APOE | c.216C>G (p.Ser72=) c.294C>G (p.Ser98=) | |
19 | g.44907932C>T | CA507799056 | APOE | c.216C>T (p.Ser72=) c.294C>T (p.Ser98=) | |
19 | g.44907933C>A | CA406303551 | APOE | c.217C>A (p.Gln73Lys) c.295C>A (p.Gln99Lys) | dbSNP |
19 | g.44907933C= | CA2338167403 | APOE | c.217C= (p.Gln73=) c.295C= (p.Gln99=) | |
19 | g.44907933C>G | CA406303552 | APOE | c.217C>G (p.Gln73Glu) c.295C>G (p.Gln99Glu) | |
19 | g.44907933C>T | CA406303553 | APOE | c.217C>T (p.Gln73Ter) c.295C>T (p.Gln99Ter) | |
19 | g.44907934A= | CA2338167405 | APOE | c.218A= (p.Gln73=) c.296A= (p.Gln99=) | |
19 | g.44907934A>C | CA406303554 | APOE | c.218A>C (p.Gln73Pro) c.296A>C (p.Gln99Pro) | |
19 | g.44907934A>G | CA406303556 | APOE | c.218A>G (p.Gln73Arg) c.296A>G (p.Gln99Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907934A>T | CA406303555 | APOE | c.218A>T (p.Gln73Leu) c.296A>T (p.Gln99Leu) | |
19 | g.44907935G>A | CA507799059 | APOE | c.219G>A (p.Gln73=) c.297G>A (p.Gln99=) | dbSNP |
19 | g.44907935G>C | CA406303557 | APOE | c.219G>C (p.Gln73His) c.297G>C (p.Gln99His) | |
19 | g.44907935G= | CA2338167407 | APOE | c.219G= (p.Gln73=) c.297G= (p.Gln99=) | |
19 | g.44907935G>T | CA406303558 | APOE | c.219G>T (p.Gln73His) c.297G>T (p.Gln99His) | |
19 | g.44907936G>A | CA308884594 | APOE | c.220G>A (p.Val74Ile) c.298G>A (p.Val100Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907936G>C | CA406303559 | APOE | c.220G>C (p.Val74Leu) c.298G>C (p.Val100Leu) | |
19 | g.44907936G= | CA2338167409 | APOE | c.220G= (p.Val74=) c.298G= (p.Val100=) | |
19 | g.44907936G>T | CA9506002 | APOE | c.220G>T (p.Val74Phe) c.298G>T (p.Val100Phe) | dbSNP ExAC |
19 | g.44907937T>A | CA406303560 | APOE | c.221T>A (p.Val74Asp) c.299T>A (p.Val100Asp) | |
19 | g.44907937T>C | CA9506003 | APOE | c.221T>C (p.Val74Ala) c.299T>C (p.Val100Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907937T>G | CA406303561 | APOE | c.221T>G (p.Val74Gly) c.299T>G (p.Val100Gly) | |
19 | g.44907937T= | CA2338167411 | APOE | c.221T= (p.Val74=) c.299T= (p.Val100=) | |
19 | g.44907938C>A | CA9506004 | APOE | c.222C>A (p.Val74=) c.300C>A (p.Val100=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907938C= | CA2338167413 | APOE | c.222C= (p.Val74=) c.300C= (p.Val100=) | |
19 | g.44907938C>G | CA507799061 | APOE | c.222C>G (p.Val74=) c.300C>G (p.Val100=) | |
19 | g.44907938C>T | CA507799060 | APOE | c.222C>T (p.Val74=) c.300C>T (p.Val100=) | |
19 | g.44907939A>C | CA406303562 | APOE | c.223A>C (p.Thr75Pro) c.301A>C (p.Thr101Pro) | |
19 | g.44907939A>G | CA406303563 | APOE | c.223A>G (p.Thr75Ala) c.301A>G (p.Thr101Ala) | |
19 | g.44907939A>T | CA406303564 | APOE | c.223A>T (p.Thr75Ser) c.301A>T (p.Thr101Ser) | |
19 | g.44907940C>A | CA406303565 | APOE | c.224C>A (p.Thr75Asn) c.302C>A (p.Thr101Asn) | COSMIC |
19 | g.44907940C>G | CA406303566 | APOE | c.224C>G (p.Thr75Ser) c.302C>G (p.Thr101Ser) | |
19 | g.44907940C>T | CA406303567 | APOE | c.224C>T (p.Thr75Ile) c.302C>T (p.Thr101Ile) | |
19 | g.44907941C>A | CA507799062 | APOE | c.225C>A (p.Thr75=) c.303C>A (p.Thr101=) | dbSNP |
19 | g.44907941C= | CA2338167414 | APOE | c.225C= (p.Thr75=) c.303C= (p.Thr101=) | |
19 | g.44907941C>G | CA507799063 | APOE | c.225C>G (p.Thr75=) c.303C>G (p.Thr101=) | |
19 | g.44907941C>T | CA507799064 | APOE | c.225C>T (p.Thr75=) c.303C>T (p.Thr101=) | |
19 | g.44907942C>A | CA406303568 | APOE | c.226C>A (p.Gln76Lys) c.304C>A (p.Gln102Lys) | |
19 | g.44907942C>G | CA406303569 | APOE | c.226C>G (p.Gln76Glu) c.304C>G (p.Gln102Glu) | gnomAD v4 |
19 | g.44907942C>T | CA406303570 | APOE | c.226C>T (p.Gln76Ter) c.304C>T (p.Gln102Ter) | |
19 | g.44907943A= | CA2338167416 | APOE | c.227A= (p.Gln76=) c.305A= (p.Gln102=) | |
19 | g.44907943A>C | CA406303571 | APOE | c.227A>C (p.Gln76Pro) c.305A>C (p.Gln102Pro) | |
19 | g.44907943A>G | CA9506005 | APOE | c.227A>G (p.Gln76Arg) c.305A>G (p.Gln102Arg) | dbSNP ExAC gnomAD v2 |
19 | g.44907943A>T | CA406303572 | APOE | c.227A>T (p.Gln76Leu) c.305A>T (p.Gln102Leu) | |
19 | g.44907944G>A | CA507799065 | APOE | c.228G>A (p.Gln76=) c.306G>A (p.Gln102=) | dbSNP |
19 | g.44907944G>C | CA406303573 | APOE | c.228G>C (p.Gln76His) c.306G>C (p.Gln102His) | |
19 | g.44907944G= | CA2338167418 | APOE | c.228G= (p.Gln76=) c.306G= (p.Gln102=) | |
19 | g.44907944G>T | CA406303574 | APOE | c.228G>T (p.Gln76His) c.306G>T (p.Gln102His) | |
19 | g.44907945G>A | CA9506006 | APOE | c.229G>A (p.Glu77Lys) c.307G>A (p.Glu103Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907945G>C | CA406303575 | APOE | c.229G>C (p.Glu77Gln) c.307G>C (p.Glu103Gln) | |
19 | g.44907945G= | CA2338167420 | APOE | c.229G= (p.Glu77=) c.307G= (p.Glu103=) | |
19 | g.44907945G>T | CA406303576 | APOE | c.229G>T (p.Glu77Ter) c.307G>T (p.Glu103Ter) | |
19 | g.44907946A>C | CA406303577 | APOE | c.230A>C (p.Glu77Ala) c.308A>C (p.Glu103Ala) | |
19 | g.44907946A>G | CA406303578 | APOE | c.230A>G (p.Glu77Gly) c.308A>G (p.Glu103Gly) | |
19 | g.44907946A>T | CA406303579 | APOE | c.230A>T (p.Glu77Val) c.308A>T (p.Glu103Val) | |
19 | g.44907947A>C | CA406303580 | APOE | c.231A>C (p.Glu77Asp) c.309A>C (p.Glu103Asp) | |
19 | g.44907947A>G | CA507799066 | APOE | c.231A>G (p.Glu77=) c.309A>G (p.Glu103=) | COSMIC |
19 | g.44907947A>T | CA406303581 | APOE | c.231A>T (p.Glu77Asp) c.309A>T (p.Glu103Asp) | |
19 | g.44907947_44907960delinsACTGAGGTGAGTGT | CA2338167422 | APOE | c.231_236+8delinsACTGAGGTGAGTGT c.309_314+8delinsACTGAGGTGAGTGT | |
19 | g.44907948C>A | CA406303582 | APOE | c.232C>A (p.Leu78Met) c.310C>A (p.Leu104Met) | |
19 | g.44907948C>G | CA406303583 | APOE | c.232C>G (p.Leu78Val) c.310C>G (p.Leu104Val) | |
19 | g.44907948C>T | CA507799067 | APOE | c.232C>T (p.Leu78=) c.310C>T (p.Leu104=) | |
19 | g.44907949_44907961del | CA633314751 | APOE | c.233_236+9del c.311_314+9del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907949T>A | CA406303584 | APOE | c.233T>A (p.Leu78Gln) c.311T>A (p.Leu104Gln) | |
19 | g.44907949T>C | CA406303585 | APOE | c.233T>C (p.Leu78Pro) c.311T>C (p.Leu104Pro) | gnomAD v4 |
19 | g.44907949T>G | CA406303586 | APOE | c.233T>G (p.Leu78Arg) c.311T>G (p.Leu104Arg) | |
19 | g.44907950G>A | CA507799068 | APOE | c.234G>A (p.Leu78=) c.312G>A (p.Leu104=) | gnomAD v4 |
19 | g.44907950G>C | CA507799069 | APOE | c.234G>C (p.Leu78=) c.312G>C (p.Leu104=) | |
19 | g.44907950G= | CA2338167424 | APOE | c.234G= (p.Leu78=) c.312G= (p.Leu104=) | |
19 | g.44907950G>T | CA507799070 | APOE | c.234G>T (p.Leu78=) c.312G>T (p.Leu104=) | |
19 | g.44907951A= | CA2338167426 | APOE | c.235A= (p.Arg79=) c.313A= (p.Arg105=) | |
19 | g.44907951A>C | CA507799071 | APOE | c.235A>C (p.Arg79=) c.313A>C (p.Arg105=) | |
19 | g.44907951A>G | CA406303587 | APOE | c.235A>G (p.Arg79Gly) c.313A>G (p.Arg105Gly) | gnomAD v4 |
19 | g.44907951A>T | CA406303588 | APOE | c.235A>T (p.Arg79Trp) c.313A>T (p.Arg105Trp) | |
19 | g.44907951_44907952insCGGCACTGATGGAGGACACTATGACGGAAGTA | CA920117270 | APOE | c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTA (p.Arg79ThrfsTer14) c.313_314insCGGCACTGATGGAGGACACTATGACGGAAGTA (p.Arg105ThrfsTer14) | dbSNP |
19 | g.44907951_44907952insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAA | CA920117271 | APOE | c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAA (p.Arg79ThrfsTer18) c.313_314insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAA (p.Arg105ThrfsTer18) | dbSNP |
19 | g.44907951_44907952insC | CA920117272 | APOE | c.235_236insC (p.Arg79ThrfsTer?) c.313_314insC (p.Arg105ThrfsTer?) | dbSNP |
19 | g.44907951_44907952insCGGCACTGAT | CA920117275 | APOE | c.235_236insCGGCACTGAT (p.Arg79ThrfsTer?) c.313_314insCGGCACTGAT (p.Arg105ThrfsTer?) | dbSNP |
19 | g.44907951_44907952insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT | CA2814526212 | APOE | c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT (p.Arg79ThrfsTer?) c.313_314insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT (p.Arg105ThrfsTer?) | |
19 | g.44907951_44907952insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCTGGAGGAACAGCTG | CA2814526213 | APOE | c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCTGGAGGAACAGCTG (p.Arg79ThrfsTer25) c.313_314insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCTGGAGGAACAGCTG (p.Arg105ThrfsTer25) | |
19 | g.44907952G>A | CA406303589 | APOE | c.236G>A (p.Arg79Lys) c.314G>A (p.Arg105Lys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907952G>C | CA406303590 | APOE | c.236G>C (p.Arg79Thr) c.314G>C (p.Arg105Thr) | dbSNP |
19 | g.44907952G= | CA2338167429 | APOE | c.236G= (p.Arg79=) c.314G= (p.Arg105=) | |
19 | g.44907952G>T | CA406303591 | APOE | c.236G>T (p.Arg79Met) c.314G>T (p.Arg105Met) | |
19 | g.44907953G>A | CA406303592 | APOE | c.236+1G>A (n.236+1G>A) c.314+1G>A (n.314+1G>A) | gnomAD v4 |
19 | g.44907953G>C | CA406303593 | APOE | c.236+1G>C (n.236+1G>C) c.314+1G>C (n.314+1G>C) | |
19 | g.44907953G= | CA2338167431 | APOE | c.236+1G= (n.236+1G=) c.314+1G= (n.314+1G=) | |
19 | g.44907953G>T | CA406303594 | APOE | c.236+1G>T (n.236+1G>T) c.314+1G>T (n.314+1G>T) | |
19 | g.44907953_44907954insGCGC | CA2741634405 | APOE | c.236+1_236+2insGCGC (n.236+1_236+2insGCGC) c.314+1_314+2insGCGC (n.314+1_314+2insGCGC) | |
19 | g.44907953_44907954insCACTGA | CA920117277 | APOE | c.236+1_236+2insCACTGA (n.236+1_236+2insCACTGA) c.314+1_314+2insCACTGA (n.314+1_314+2insCACTGA) | dbSNP |
19 | g.44907953_44907954insGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGC | CA2814526214 | APOE | c.236+1_236+2insGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGC (n.236+1_236+2insGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGC) c.314+1_314+2insGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGC (n.314+1_314+2insGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGC) | |
19 | g.44907954T>A | CA406303595 | APOE | c.236+2T>A (n.236+2T>A) c.314+2T>A (n.314+2T>A) | dbSNP |
19 | g.44907954T>C | CA406303596 | APOE | c.236+2T>C (n.236+2T>C) c.314+2T>C (n.314+2T>C) | |
19 | g.44907954T>G | CA308884623 | APOE | c.236+2T>G (n.236+2T>G) c.314+2T>G (n.314+2T>G) | dbSNP |
19 | g.44907954T= | CA2338167434 | APOE | c.236+2T= (n.236+2T=) c.314+2T= (n.314+2T=) | |
19 | g.44907954_44907955insCCAGTGGC | CA2338167435 | APOE | c.236+2_236+3insCCAGTGGC (n.236+2_236+3insCCAGTGGC) c.314+2_314+3insCCAGTGGC (n.314+2_314+3insCCAGTGGC) | dbSNP |
19 | g.44907955G>C | CA308884630 | APOE | c.236+3G>C (n.236+3G>C) c.314+3G>C (n.314+3G>C) | dbSNP |
19 | g.44907955G= | CA2338167437 | APOE | c.236+3G= (n.236+3G=) c.314+3G= (n.314+3G=) | |
19 | g.44907956_44907957insTGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGA | CA2741634406 | APOE | c.236+4_236+5insTGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGA (n.236+4_236+5insTGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGA) c.314+4_314+5insTGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGA (n.314+4_314+5insTGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGA) | |
19 | g.44907956A>C | CA2582192285 | APOE | c.236+4A>C (n.236+4A>C) c.314+4A>C (n.314+4A>C) | gnomAD v3 gnomAD v4 |
19 | g.44907957G>A | CA9506007 | APOE | c.236+5G>A (n.236+5G>A) c.314+5G>A (n.314+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907957G= | CA2338167438 | APOE | c.236+5G= (n.236+5G=) c.314+5G= (n.314+5G=) | |
19 | g.44907958T>C | CA308884655 | APOE | c.236+6T>C (n.236+6T>C) c.314+6T>C (n.314+6T>C) | dbSNP gnomAD v4 |
19 | g.44907958T= | CA2338167439 | APOE | c.236+6T= (n.236+6T=) c.314+6T= (n.314+6T=) | |
19 | g.44907959G>A | CA633314752 | APOE | c.236+7G>A (n.236+7G>A) c.314+7G>A (n.314+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907959G= | CA2338167441 | APOE | c.236+7G= (n.236+7G=) c.314+7G= (n.314+7G=) | |
19 | g.44907960T>G | CA9506008 | APOE | c.236+8T>G (n.236+8T>G) c.314+8T>G (n.314+8T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907960T= | CA2338167443 | APOE | c.236+8T= (n.236+8T=) c.314+8T= (n.314+8T=) | |
19 | g.44907960_44907961delinsTC | CA2338167445 | APOE | c.236+8_236+9delinsTC (n.236+8_236+9delinsTC) c.314+8_314+9delinsTC (n.314+8_314+9delinsTC) | |
19 | g.44907961C= | CA2338167447 | APOE | c.236+9C= (n.236+9C=) c.314+9C= (n.314+9C=) | |
19 | g.44907961C>T | CA633314755 | APOE | c.236+9C>T (n.236+9C>T) c.314+9C>T (n.314+9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907964del | CA633314754 | APOE | c.236+12del (n.236+12del) c.314+12del (n.314+12del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907962C>T | CA2585715230 | APOE | c.236+10C>T (n.236+10C>T) c.314+10C>T (n.314+10C>T) | gnomAD v4 |
19 | g.44907963C>A | CA2576812013 | APOE | c.236+11C>A (n.236+11C>A) c.314+11C>A (n.314+11C>A) | |
19 | g.44907963C>G | CA2814526215 | APOE | c.236+11C>G (n.236+11C>G) c.314+11C>G (n.314+11C>G) | |
19 | g.44907963C>T | CA2585715231 | APOE | c.236+11C>T (n.236+11C>T) c.314+11C>T (n.314+11C>T) | dbSNP gnomAD v4 |
19 | g.44907964C>A | CA2814526216 | APOE | c.236+12C>A (n.236+12C>A) c.314+12C>A (n.314+12C>A) | |
19 | g.44907964C= | CA2338167449 | APOE | c.236+12C= (n.236+12C=) c.314+12C= (n.314+12C=) | |
19 | g.44907964C>T | CA2338167450 | APOE | c.236+12C>T (n.236+12C>T) c.314+12C>T (n.314+12C>T) | dbSNP |
19 | g.44907965A>C | CA2814526217 | APOE | c.236+13A>C (n.236+13A>C) c.314+13A>C (n.314+13A>C) | |
19 | g.44907967C= | CA2338167452 | APOE | c.236+15C= (n.236+15C=) c.314+15C= (n.314+15C=) | |
19 | g.44907967C>T | CA9506009 | APOE | c.236+15C>T (n.236+15C>T) c.314+15C>T (n.314+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907968C= | CA2338167454 | APOE | c.236+16C= (n.236+16C=) c.314+16C= (n.314+16C=) | |
19 | g.44907968C>T | CA882663243 | APOE | c.236+16C>T (n.236+16C>T) c.314+16C>T (n.314+16C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907969T>G | CA2576812014 | APOE | c.236+17T>G (n.236+17T>G) c.314+17T>G (n.314+17T>G) | |
19 | g.44907970G>T | CA2814526218 | APOE | c.236+18G>T (n.236+18G>T) c.314+18G>T (n.314+18G>T) | |
19 | g.44907971G>A | CA633314757 | APOE | c.236+19G>A (n.236+19G>A) c.314+19G>A (n.314+19G>A) | dbSNP gnomAD v2 |
19 | g.44907971G= | CA2338167455 | APOE | c.236+19G= (n.236+19G=) c.314+19G= (n.314+19G=) | |
19 | g.44907972C= | CA2338167457 | APOE | c.236+20C= (n.236+20C=) c.314+20C= (n.314+20C=) | |
19 | g.44907972C>G | CA2576812015 | APOE | c.236+20C>G (n.236+20C>G) c.314+20C>G (n.314+20C>G) | |
19 | g.44907972C>T | CA2338167458 | APOE | c.236+20C>T (n.236+20C>T) c.314+20C>T (n.314+20C>T) | dbSNP gnomAD v4 |
19 | g.44907974C>T | CA2814526219 | APOE | c.236+22C>T (n.236+22C>T) c.314+22C>T (n.314+22C>T) | |
19 | g.44907976T>G | CA2814526220 | APOE | c.236+24T>G (n.236+24T>G) c.314+24T>G (n.314+24T>G) | |
19 | g.44907977G>A | CA633314758 | APOE | c.236+25G>A (n.236+25G>A) c.314+25G>A (n.314+25G>A) | dbSNP gnomAD v2 |
19 | g.44907977G= | CA2338167459 | APOE | c.236+25G= (n.236+25G=) c.314+25G= (n.314+25G=) | |
19 | g.44907977G>T | CA2585715232 | APOE | c.236+25G>T (n.236+25G>T) c.314+25G>T (n.314+25G>T) | gnomAD v4 |
19 | g.44907978A>T | CA2585715234 | APOE | c.236+26A>T (n.236+26A>T) c.314+26A>T (n.314+26A>T) | gnomAD v4 |
19 | g.44907978_44907980del | CA2585715233 | APOE | c.236+26_236+28del (n.236+26_236+28del) c.314+26_314+28del (n.314+26_314+28del) | gnomAD v4 |
19 | g.44907979C>A | CA2338167462 | APOE | c.236+27C>A (n.236+27C>A) c.314+27C>A (n.314+27C>A) | dbSNP gnomAD v4 |
19 | g.44907979C= | CA2338167461 | APOE | c.236+27C= (n.236+27C=) c.314+27C= (n.314+27C=) | |
19 | g.44907979C>T | CA2585715235 | APOE | c.236+27C>T (n.236+27C>T) c.314+27C>T (n.314+27C>T) | gnomAD v4 |
19 | g.44907980C>A | CA2576812016 | APOE | c.236+28C>A (n.236+28C>A) c.314+28C>A (n.314+28C>A) | |
19 | g.44907980C= | CA2338167463 | APOE | c.236+28C= (n.236+28C=) c.314+28C= (n.314+28C=) | |
19 | g.44907980C>T | CA9506010 | APOE | c.236+28C>T (n.236+28C>T) c.314+28C>T (n.314+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907981C>T | CA2576812017 | APOE | c.236+29C>T (n.236+29C>T) c.314+29C>T (n.314+29C>T) | gnomAD v4 |
19 | g.44907982T>C | CA308884684 | APOE | c.236+30T>C (n.236+30T>C) c.314+30T>C (n.314+30T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907982T= | CA2338167464 | APOE | c.236+30T= (n.236+30T=) c.314+30T= (n.314+30T=) | |
19 | g.44907983C>T | CA2585715236 | APOE | c.236+31C>T (n.236+31C>T) c.314+31C>T (n.314+31C>T) | gnomAD v4 |
19 | g.44907984C>A | CA2338167466 | APOE | c.236+32C>A (n.236+32C>A) c.314+32C>A (n.314+32C>A) | dbSNP |
19 | g.44907984C= | CA2338167467 | APOE | c.236+32C= (n.236+32C=) c.314+32C= (n.314+32C=) | |
19 | g.44907985T>G | CA308884689 | APOE | c.236+33T>G (n.236+33T>G) c.314+33T>G (n.314+33T>G) | dbSNP gnomAD v4 |
19 | g.44907985T= | CA2338167468 | APOE | c.236+33T= (n.236+33T=) c.314+33T= (n.314+33T=) | |
19 | g.44907987G>A | CA996247225 | APOE | c.236+35G>A (n.236+35G>A) c.314+35G>A (n.314+35G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907987G>C | CA633314760 | APOE | c.236+35G>C (n.236+35G>C) c.314+35G>C (n.314+35G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907987G= | CA2338167470 | APOE | c.236+35G= (n.236+35G=) c.314+35G= (n.314+35G=) | |
19 | g.44907989G>A | CA2585715238 | APOE | c.236+37G>A (n.236+37G>A) c.314+37G>A (n.314+37G>A) | gnomAD v4 |
19 | g.44907989G>T | CA2585715239 | APOE | c.236+37G>T (n.236+37G>T) c.314+37G>T (n.314+37G>T) | gnomAD v4 |
19 | g.44907991del | CA2585715237 | APOE | c.236+39del (n.236+39del) c.314+39del (n.314+39del) | gnomAD v4 |
19 | g.44907991G>A | CA633314761 | APOE | c.236+39G>A (n.236+39G>A) c.314+39G>A (n.314+39G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907991G= | CA2338167475 | APOE | c.236+39G= (n.236+39G=) c.314+39G= (n.314+39G=) | |
19 | g.44907992C>A | CA882663276 | APOE | c.236+40C>A (n.236+40C>A) c.314+40C>A (n.314+40C>A) | dbSNP gnomAD v4 |
19 | g.44907992C= | CA2338167477 | APOE | c.236+40C= (n.236+40C=) c.314+40C= (n.314+40C=) | |
19 | g.44907992C>T | CA633314763 | APOE | c.236+40C>T (n.236+40C>T) c.314+40C>T (n.314+40C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907993G>A | CA2576812018 | APOE | c.236+41G>A (n.236+41G>A) c.314+41G>A (n.314+41G>A) | dbSNP gnomAD v4 |
19 | g.44907994G>A | CA2585715240 | APOE | c.236+42G>A (n.236+42G>A) c.314+42G>A (n.314+42G>A) | gnomAD v4 |
19 | g.44907995C>A | CA2585715241 | APOE | c.236+43C>A (n.236+43C>A) c.314+43C>A (n.314+43C>A) | gnomAD v4 |
19 | g.44907995C>T | CA2576812019 | APOE | c.236+43C>T (n.236+43C>T) c.314+43C>T (n.314+43C>T) | gnomAD v4 |
19 | g.44907997A>C | CA2576812020 | APOE | c.236+45A>C (n.236+45A>C) c.314+45A>C (n.314+45A>C) | |
19 | g.44907999A>T | CA2576812021 | APOE | c.236+47A>T (n.236+47A>T) c.314+47A>T (n.314+47A>T) | |
19 | g.44908000C>A | CA2585715242 | APOE | c.236+48C>A (n.236+48C>A) c.314+48C>A (n.314+48C>A) | gnomAD v4 |
19 | g.44908001C>A | CA2585715243 | APOE | c.236+49C>A (n.236+49C>A) c.314+49C>A (n.314+49C>A) | gnomAD v4 |
19 | g.44908001C>G | CA2585715244 | APOE | c.236+49C>G (n.236+49C>G) c.314+49C>G (n.314+49C>G) | gnomAD v4 |