| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.4699347A>C | CA408151676 | PRNP | c.127A>C (p.Ser43Arg) c.38A>C (p.Gln13Pro) | |
| 20 | g.4699347A>G | CA408151677 | PRNP | c.127A>G (p.Ser43Gly) c.38A>G (p.Gln13Arg) | |
| 20 | g.4699347A>T | CA408151678 | PRNP | c.127A>T (p.Ser43Cys) c.38A>T (p.Gln13Leu) | |
| 20 | g.4699348G>A | CA408151679 | PRNP | c.128G>A (p.Ser43Asn) c.39G>A (p.Gln13=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699348G>C | CA408151681 | PRNP | c.128G>C (p.Ser43Thr) c.39G>C (p.Gln13His) | |
| 20 | g.4699348G= | CA2347156401 | PRNP | c.128G= (p.Ser43=) c.39G= (p.Gln13=) | |
| 20 | g.4699348G>T | CA408151680 | PRNP | c.128G>T (p.Ser43Ile) c.39G>T (p.Gln13His) | |
| 20 | g.4699349C>A | CA408151682 | PRNP | c.129C>A (p.Ser43Arg) c.40C>A (p.Pro14Thr) | |
| 20 | g.4699349C>G | CA408151683 | PRNP | c.129C>G (p.Ser43Arg) c.40C>G (p.Pro14Ala) | |
| 20 | g.4699349C>T | CA509567598 | PRNP | c.129C>T (p.Ser43=) c.40C>T (p.Pro14Ser) | |
| 20 | g.4699350C>A | CA408151684 | PRNP | c.130C>A (p.Pro44Thr) c.41C>A (p.Pro14His) | |
| 20 | g.4699350C= | CA2347156402 | PRNP | c.130C= (p.Pro44=) c.41C= (p.Pro14=) | |
| 20 | g.4699350C>G | CA408151685 | PRNP | c.130C>G (p.Pro44Ala) c.41C>G (p.Pro14Arg) | |
| 20 | g.4699350C>T | CA311093214 | PRNP | c.130C>T (p.Pro44Ser) c.41C>T (p.Pro14Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699351C>A | CA408151686 | PRNP | c.131C>A (p.Pro44His) c.42C>A (p.Pro14=) | |
| 20 | g.4699351C= | CA2347156403 | PRNP | c.131C= (p.Pro44=) c.42C= (p.Pro14=) | |
| 20 | g.4699351C>G | CA408151687 | PRNP | c.131C>G (p.Pro44Arg) c.42C>G (p.Pro14=) | |
| 20 | g.4699351C>T | CA408151688 | PRNP | c.131C>T (p.Pro44Leu) c.42C>T (p.Pro14=) | dbSNP |
| 20 | g.4699352T>A | CA509567599 | PRNP | c.132T>A (p.Pro44=) c.43T>A (p.Trp15Arg) | |
| 20 | g.4699352T>C | CA509567600 | PRNP | c.132T>C (p.Pro44=) c.43T>C (p.Trp15Arg) | |
| 20 | g.4699352T>G | CA509567601 | PRNP | c.132T>G (p.Pro44=) c.43T>G (p.Trp15Gly) | |
| 20 | g.4699353G>A | CA408151689 | PRNP | c.133G>A (p.Gly45Arg) c.44G>A (p.Trp15Ter) | |
| 20 | g.4699353G>C | CA408151690 | PRNP | c.133G>C (p.Gly45Arg) c.44G>C (p.Trp15Ser) | |
| 20 | g.4699353G>T | CA408151691 | PRNP | c.133G>T (p.Gly45Ter) c.44G>T (p.Trp15Leu) | |
| 20 | g.4699354G>A | CA408151694 | PRNP | c.134G>A (p.Gly45Glu) c.45G>A (p.Trp15Ter) | |
| 20 | g.4699354G>C | CA408151693 | PRNP | c.134G>C (p.Gly45Ala) c.45G>C (p.Trp15Cys) | |
| 20 | g.4699354G>T | CA408151692 | PRNP | c.134G>T (p.Gly45Val) c.45G>T (p.Trp15Cys) | |
| 20 | g.4699355A>C | CA509567605 | PRNP | c.135A>C (p.Gly45=) c.46A>C (p.Arg16=) | |
| 20 | g.4699355A>G | CA509567606 | PRNP | c.135A>G (p.Gly45=) c.46A>G (p.Arg16Gly) | |
| 20 | g.4699355A>T | CA509567607 | PRNP | c.135A>T (p.Gly45=) c.46A>T (p.Arg16Trp) | |
| 20 | g.4699356G>A | CA408151695 | PRNP | c.136G>A (p.Gly46Ser) c.47G>A (p.Arg16Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699356G>C | CA408151697 | PRNP | c.136G>C (p.Gly46Arg) c.47G>C (p.Arg16Thr) | |
| 20 | g.4699356G= | CA2347156404 | PRNP | c.136G= (p.Gly46=) c.47G= (p.Arg16=) | |
| 20 | g.4699356G>T | CA408151696 | PRNP | c.136G>T (p.Gly46Cys) c.47G>T (p.Arg16Met) | |
| 20 | g.4699357G>A | CA408151698 | PRNP | c.137G>A (p.Gly46Asp) c.48G>A (p.Arg16=) | |
| 20 | g.4699357G>C | CA408151699 | PRNP | c.137G>C (p.Gly46Ala) c.48G>C (p.Arg16Ser) | |
| 20 | g.4699357G>T | CA408151700 | PRNP | c.137G>T (p.Gly46Val) c.48G>T (p.Arg16Ser) | |
| 20 | g.4699358C>A | CA509567610 | PRNP | c.138C>A (p.Gly46=) c.49C>A (p.Gln17Lys) | |
| 20 | g.4699358C>G | CA509567611 | PRNP | c.138C>G (p.Gly46=) c.49C>G (p.Gln17Glu) | |
| 20 | g.4699358C>T | CA509567612 | PRNP | c.138C>T (p.Gly46=) c.49C>T (p.Gln17Ter) | ClinVar gnomAD v4 |
| 20 | g.4699359A= | CA2347156405 | PRNP | c.139A= (p.Asn47=) c.50A= (p.Gln17=) | |
| 20 | g.4699359A>C | CA408151701 | PRNP | c.139A>C (p.Asn47His) c.50A>C (p.Gln17Pro) | |
| 20 | g.4699359A>G | CA9752016 | PRNP | c.139A>G (p.Asn47Asp) c.50A>G (p.Gln17Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699359A>T | CA408151702 | PRNP | c.139A>T (p.Asn47Tyr) c.50A>T (p.Gln17Leu) | |
| 20 | g.4699360A>C | CA408151703 | PRNP | c.140A>C (p.Asn47Thr) c.51A>C (p.Gln17His) | |
| 20 | g.4699360A>G | CA408151704 | PRNP | c.140A>G (p.Asn47Ser) c.51A>G (p.Gln17=) | |
| 20 | g.4699360A>T | CA408151705 | PRNP | c.140A>T (p.Asn47Ile) c.51A>T (p.Gln17His) | |
| 20 | g.4699361C>A | CA408151706 | PRNP | c.141C>A (p.Asn47Lys) c.52C>A (p.Pro18Thr) | |
| 20 | g.4699361C>G | CA408151707 | PRNP | c.141C>G (p.Asn47Lys) c.52C>G (p.Pro18Ala) | |
| 20 | g.4699361C>T | CA509567614 | PRNP | c.141C>T (p.Asn47=) c.52C>T (p.Pro18Ser) | gnomAD v4 |
| 20 | g.4699362C>A | CA311093218 | PRNP | c.142C>A (p.Arg48Ser) c.53C>A (p.Pro18Gln) | dbSNP |
| 20 | g.4699362C= | CA2347156406 | PRNP | c.142C= (p.Arg48=) c.53C= (p.Pro18=) | |
| 20 | g.4699362C>G | CA408151708 | PRNP | c.142C>G (p.Arg48Gly) c.53C>G (p.Pro18Arg) | |
| 20 | g.4699362C>T | CA408151709 | PRNP | c.142C>T (p.Arg48Cys) c.53C>T (p.Pro18Leu) | dbSNP gnomAD v4 |
| 20 | g.4699363G>A | CA311093220 | PRNP | c.143G>A (p.Arg48His) c.54G>A (p.Pro18=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699363G>C | CA408151710 | PRNP | c.143G>C (p.Arg48Pro) c.54G>C (p.Pro18=) | |
| 20 | g.4699363G= | CA2347156407 | PRNP | c.143G= (p.Arg48=) c.54G= (p.Pro18=) | |
| 20 | g.4699363G>T | CA408151711 | PRNP | c.143G>T (p.Arg48Leu) c.54G>T (p.Pro18=) | |
| 20 | g.4699364C>A | CA509567617 | PRNP | c.144C>A (p.Arg48=) c.55C>A (p.Leu19Ile) | |
| 20 | g.4699364C>G | CA509567618 | PRNP | c.144C>G (p.Arg48=) c.55C>G (p.Leu19Val) | |
| 20 | g.4699364C>T | CA509567620 | PRNP | c.144C>T (p.Arg48=) c.55C>T (p.Leu19=) | |
| 20 | g.4699365T>A | CA408151712 | PRNP | c.145T>A (p.Tyr49Asn) c.56T>A (p.Leu19Gln) | |
| 20 | g.4699365T>C | CA408151713 | PRNP | c.145T>C (p.Tyr49His) c.56T>C (p.Leu19Pro) | gnomAD v4 |
| 20 | g.4699365T>G | CA408151714 | PRNP | c.145T>G (p.Tyr49Asp) c.56T>G (p.Leu19Arg) | |
| 20 | g.4699366A>C | CA408151715 | PRNP | c.146A>C (p.Tyr49Ser) c.57A>C (p.Leu19=) | |
| 20 | g.4699366A>G | CA408151716 | PRNP | c.146A>G (p.Tyr49Cys) c.57A>G (p.Leu19=) | |
| 20 | g.4699366A>T | CA408151717 | PRNP | c.146A>T (p.Tyr49Phe) c.57A>T (p.Leu19=) | |
| 20 | g.4699367C>A | CA408151718 | PRNP | c.147C>A (p.Tyr49Ter) c.58C>A (p.Pro20Thr) | |
| 20 | g.4699367C>G | CA408151719 | PRNP | c.147C>G (p.Tyr49Ter) c.58C>G (p.Pro20Ala) | gnomAD v4 |
| 20 | g.4699367C>T | CA509567622 | PRNP | c.147C>T (p.Tyr49=) c.58C>T (p.Pro20Ser) | gnomAD v4 |
| 20 | g.4699368C>A | CA408151721 | PRNP | c.148C>A (p.Pro50Thr) c.59C>A (p.Pro20His) | |
| 20 | g.4699368C>G | CA408151722 | PRNP | c.148C>G (p.Pro50Ala) c.59C>G (p.Pro20Arg) | |
| 20 | g.4699368C>T | CA408151720 | PRNP | c.148C>T (p.Pro50Ser) c.59C>T (p.Pro20Leu) | |
| 20 | g.4699369C>A | CA408151723 | PRNP | c.149C>A (p.Pro50Gln) c.60C>A (p.Pro20=) | |
| 20 | g.4699369C= | CA2347156408 | PRNP | c.149C= (p.Pro50=) c.60C= (p.Pro20=) | |
| 20 | g.4699369C>G | CA408151724 | PRNP | c.149C>G (p.Pro50Arg) c.60C>G (p.Pro20=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699369C>T | CA408151725 | PRNP | c.149C>T (p.Pro50Leu) c.60C>T (p.Pro20=) | dbSNP |
| 20 | g.4699370A>C | CA509567627 | PRNP | c.150A>C (p.Pro50=) c.61A>C (p.Thr21Pro) | |
| 20 | g.4699370A>G | CA509567625 | PRNP | c.150A>G (p.Pro50=) c.61A>G (p.Thr21Ala) | |
| 20 | g.4699370A>T | CA509567626 | PRNP | c.150A>T (p.Pro50=) c.61A>T (p.Thr21Ser) | |
| 20 | g.4699371C>A | CA408151726 | PRNP | c.151C>A (p.Pro51Thr) c.62C>A (p.Thr21Asn) | |
| 20 | g.4699371C= | CA2347156409 | PRNP | c.151C= (p.Pro51=) c.62C= (p.Thr21=) | |
| 20 | g.4699371C>G | CA408151727 | PRNP | c.151C>G (p.Pro51Ala) c.62C>G (p.Thr21Ser) | |
| 20 | g.4699371C>T | CA311093222 | PRNP | c.151C>T (p.Pro51Ser) c.62C>T (p.Thr21Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699372C>A | CA408151728 | PRNP | c.152C>A (p.Pro51His) c.63C>A (p.Thr21=) | |
| 20 | g.4699372C>G | CA408151729 | PRNP | c.152C>G (p.Pro51Arg) c.63C>G (p.Thr21=) | |
| 20 | g.4699372C>T | CA408151730 | PRNP | c.152C>T (p.Pro51Leu) c.63C>T (p.Thr21=) | |
| 20 | g.4699372_4699373insAAACACACCCAAC | CA2815112093 | PRNP | c.152_153insAAACACACCCAAC (p.Gln52AsnfsTer?) c.63_64insAAACACACCCAAC (p.Ser22LysfsTer?) | |
| 20 | g.4699373T>A | CA509567633 | PRNP | c.153T>A (p.Pro51=) c.64T>A (p.Ser22Thr) | |
| 20 | g.4699373T>C | CA509567632 | PRNP | c.153T>C (p.Pro51=) c.64T>C (p.Ser22Pro) | |
| 20 | g.4699373T>G | CA509567631 | PRNP | c.153T>G (p.Pro51=) c.64T>G (p.Ser22Ala) | |
| 20 | g.4699373T= | CA2347156410 | PRNP | c.153T= (p.Pro51=) c.64T= (p.Ser22=) | |
| 20 | g.4699374C>A | CA408151731 | PRNP | c.154C>A (p.Gln52Lys) c.65C>A (p.Ser22Ter) | |
| 20 | g.4699374C>G | CA408151732 | PRNP | c.154C>G (p.Gln52Glu) c.65C>G (p.Ser22Ter) | |
| 20 | g.4699374C>T | CA408151733 | PRNP | c.154C>T (p.Gln52Ter) c.65C>T (p.Ser22Leu) | |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156054 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156053 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156061 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156058 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156059 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156057 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156056 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156055 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699375A= | CA2347156411 | PRNP | c.155A= (p.Gln52=) c.66A= (p.Ser22=) | |
| 20 | g.4699375A>C | CA408151735 | PRNP | c.155A>C (p.Gln52Pro) c.66A>C (p.Ser22=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699375A>G | CA408151736 | PRNP | c.155A>G (p.Gln52Arg) c.66A>G (p.Ser22=) | |
| 20 | g.4699375A>T | CA408151734 | PRNP | c.155A>T (p.Gln52Leu) c.66A>T (p.Ser22=) | |
| 20 | g.4699376G>A | CA509567637 | PRNP | c.156G>A (p.Gln52=) c.67G>A (p.Gly23Arg) | |
| 20 | g.4699376G>C | CA408151737 | PRNP | c.156G>C (p.Gln52His) c.67G>C (p.Gly23Arg) | |
| 20 | g.4699376G>T | CA408151738 | PRNP | c.156G>T (p.Gln52His) c.67G>T (p.Gly23Trp) | |
| 20 | g.4699377G>A | CA408151739 | PRNP | c.157G>A (p.Gly53Ser) c.68G>A (p.Gly23Glu) | |
| 20 | g.4699377G>C | CA408151740 | PRNP | c.157G>C (p.Gly53Arg) c.68G>C (p.Gly23Ala) | |
| 20 | g.4699377G>T | CA408151741 | PRNP | c.157G>T (p.Gly53Cys) c.68G>T (p.Gly23Val) | |
| 20 | g.4699378G>A | CA408151744 | PRNP | c.158G>A (p.Gly53Asp) c.69G>A (p.Gly23=) | |
| 20 | g.4699378G>C | CA408151742 | PRNP | c.158G>C (p.Gly53Ala) c.69G>C (p.Gly23=) | |
| 20 | g.4699378G= | CA2347156412 | PRNP | c.158G= (p.Gly53=) c.69G= (p.Gly23=) | |
| 20 | g.4699378G>T | CA408151743 | PRNP | c.158G>T (p.Gly53Val) c.69G>T (p.Gly23=) | dbSNP gnomAD v2 |
| 20 | g.4699379C>A | CA509567641 | PRNP | c.159C>A (p.Gly53=) c.70C>A (p.Arg24=) | |
| 20 | g.4699379C= | CA2347156414 | PRNP | c.159C= (p.Gly53=) c.70C= (p.Arg24=) | |
| 20 | g.4699379C>G | CA509567642 | PRNP | c.159C>G (p.Gly53=) c.70C>G (p.Arg24Gly) | |
| 20 | g.4699379C>T | CA9752017 | PRNP | c.159C>T (p.Gly53=) c.70C>T (p.Arg24Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699379_4699427delinsCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT | CA2347156413 | PRNP | c.159_207delinsCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT (p.Gly53=) c.70_118delinsCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT (p.Arg24=) | |
| 20 | g.4699380G>A | CA9752018 | PRNP | c.160G>A (p.Gly54Ser) c.71G>A (p.Arg24Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699380G>C | CA408151745 | PRNP | c.160G>C (p.Gly54Arg) c.71G>C (p.Arg24Pro) | |
| 20 | g.4699380G= | CA2347156415 | PRNP | c.160G= (p.Gly54=) c.71G= (p.Arg24=) | |
| 20 | g.4699380G>T | CA408151746 | PRNP | c.160G>T (p.Gly54Cys) c.71G>T (p.Arg24Leu) | |
| 20 | g.4699447_4699448insTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | CA2580614990 | PRNP | c.227_228insTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Pro76_His77insHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnPro) c.138_139insTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Ala46_Pro47insSerTrpTrpTrpLeuGlyAlaAlaProTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAla) | |
| 20 | g.4699447_4699448insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | CA915953085 | PRNP | c.227_228insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Pro76_His77insHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnPro) c.138_139insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Ala46_Pro47insSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaProTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699424_4699447dup | CA634331357 | PRNP | c.204_227dup (p.Pro76_His77insHisGlyGlyGlyTrpGlyGlnPro) c.115_138dup (p.Ala46_Pro47insSerTrpTrpTrpLeuGlyAlaAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699400_4699447dup | CA634331358 | PRNP | c.180_227dup (p.Pro76_His77insHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnPro) c.91_138dup (p.Ala46_Pro47insSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699424_4699447del | CA344807 | PRNP | c.204_227del (p.His69_Pro76del) c.115_138del (p.Ser39_Ala46del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699400_4699447del | CA634331356 | PRNP | c.180_227del (p.His61_Pro76del) c.91_138del (p.Ser31_Ala46del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699381G>A | CA408151749 | PRNP | c.161G>A (p.Gly54Asp) c.72G>A (p.Arg24=) | |
| 20 | g.4699381G>C | CA408151748 | PRNP | c.161G>C (p.Gly54Ala) c.72G>C (p.Arg24=) | |
| 20 | g.4699381G= | CA2347156416 | PRNP | c.161G= (p.Gly54=) c.72G= (p.Arg24=) | |
| 20 | g.4699381G>T | CA408151747 | PRNP | c.161G>T (p.Gly54Val) c.72G>T (p.Arg24=) | dbSNP |
| 20 | g.4699382T>A | CA509567650 | PRNP | c.162T>A (p.Gly54=) c.73T>A (p.Trp25Arg) | |
| 20 | g.4699382T>C | CA9752019 | PRNP | c.162T>C (p.Gly54=) c.73T>C (p.Trp25Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699382T>G | CA509567648 | PRNP | c.162T>G (p.Gly54=) c.73T>G (p.Trp25Gly) | |
| 20 | g.4699382T= | CA2347156417 | PRNP | c.162T= (p.Gly54=) c.73T= (p.Trp25=) | |
| 20 | g.4699383G>A | CA408151752 | PRNP | c.163G>A (p.Gly55Ser) c.74G>A (p.Trp25Ter) | |
| 20 | g.4699383G>C | CA408151751 | PRNP | c.163G>C (p.Gly55Arg) c.74G>C (p.Trp25Ser) | |
| 20 | g.4699383G>T | CA408151750 | PRNP | c.163G>T (p.Gly55Cys) c.74G>T (p.Trp25Leu) | |
| 20 | g.4699384G>A | CA408151755 | PRNP | c.164G>A (p.Gly55Asp) c.75G>A (p.Trp25Ter) | |
| 20 | g.4699384G>C | CA408151754 | PRNP | c.164G>C (p.Gly55Ala) c.75G>C (p.Trp25Cys) | |
| 20 | g.4699384G>T | CA408151753 | PRNP | c.164G>T (p.Gly55Val) c.75G>T (p.Trp25Cys) | |
| 20 | g.4699385T>A | CA509567657 | PRNP | c.165T>A (p.Gly55=) c.76T>A (p.Trp26Arg) | |
| 20 | g.4699385T>C | CA509567655 | PRNP | c.165T>C (p.Gly55=) c.76T>C (p.Trp26Arg) | |
| 20 | g.4699385T>G | CA509567656 | PRNP | c.165T>G (p.Gly55=) c.76T>G (p.Trp26Gly) | |
| 20 | g.4699386G>A | CA408151756 | PRNP | c.166G>A (p.Gly56Ser) c.77G>A (p.Trp26Ter) | |
| 20 | g.4699386G>C | CA408151757 | PRNP | c.166G>C (p.Gly56Arg) c.77G>C (p.Trp26Ser) | |
| 20 | g.4699386G>T | CA408151758 | PRNP | c.166G>T (p.Gly56Cys) c.77G>T (p.Trp26Leu) | |
| 20 | g.4699387G>A | CA408151759 | PRNP | c.167G>A (p.Gly56Asp) c.78G>A (p.Trp26Ter) | |
| 20 | g.4699387G>C | CA408151760 | PRNP | c.167G>C (p.Gly56Ala) c.78G>C (p.Trp26Cys) | |
| 20 | g.4699387G>T | CA408151761 | PRNP | c.167G>T (p.Gly56Val) c.78G>T (p.Trp26Cys) | |
| 20 | g.4699388C>A | CA509567661 | PRNP | c.168C>A (p.Gly56=) c.79C>A (p.Leu27Met) | |
| 20 | g.4699388C= | CA2347156418 | PRNP | c.168C= (p.Gly56=) c.79C= (p.Leu27=) | |
| 20 | g.4699388C>G | CA509567662 | PRNP | c.168C>G (p.Gly56=) c.79C>G (p.Leu27Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699388C>T | CA509567663 | PRNP | c.168C>T (p.Gly56=) c.79C>T (p.Leu27=) | gnomAD v4 |
| 20 | g.4699389T>A | CA408151762 | PRNP | c.169T>A (p.Trp57Arg) c.80T>A (p.Leu27Gln) | |
| 20 | g.4699389T>C | CA408151763 | PRNP | c.169T>C (p.Trp57Arg) c.80T>C (p.Leu27Pro) | |
| 20 | g.4699389T>G | CA408151764 | PRNP | c.169T>G (p.Trp57Gly) c.80T>G (p.Leu27Arg) | |
| 20 | g.4699390G>A | CA408151765 | PRNP | c.170G>A (p.Trp57Ter) c.81G>A (p.Leu27=) | |
| 20 | g.4699390G>C | CA408151766 | PRNP | c.170G>C (p.Trp57Ser) c.81G>C (p.Leu27=) | |
| 20 | g.4699390G>T | CA408151767 | PRNP | c.170G>T (p.Trp57Leu) c.81G>T (p.Leu27=) | |
| 20 | g.4699394del | CA2651785445 | PRNP | c.174del (p.Gln59SerfsTer?) c.85del (p.Ala29GlnfsTer?) | gnomAD v4 |
| 20 | g.4699391G>A | CA408151768 | PRNP | c.171G>A (p.Trp57Ter) c.82G>A (p.Gly28Arg) | dbSNP |
| 20 | g.4699391G>C | CA408151770 | PRNP | c.171G>C (p.Trp57Cys) c.82G>C (p.Gly28Arg) | |
| 20 | g.4699391G= | CA2347156419 | PRNP | c.171G= (p.Trp57=) c.82G= (p.Gly28=) | |
| 20 | g.4699391G>T | CA408151769 | PRNP | c.171G>T (p.Trp57Cys) c.82G>T (p.Gly28Trp) | |
| 20 | g.4699392G>A | CA408151771 | PRNP | c.172G>A (p.Gly58Arg) c.83G>A (p.Gly28Glu) | gnomAD v4 |
| 20 | g.4699392G>C | CA408151772 | PRNP | c.172G>C (p.Gly58Arg) c.83G>C (p.Gly28Ala) | |
| 20 | g.4699392G= | CA2347156420 | PRNP | c.172G= (p.Gly58=) c.83G= (p.Gly28=) | |
| 20 | g.4699392G>T | CA9752020 | PRNP | c.172G>T (p.Gly58Trp) c.83G>T (p.Gly28Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699393G>A | CA408151773 | PRNP | c.173G>A (p.Gly58Glu) c.84G>A (p.Gly28=) | |
| 20 | g.4699393G>C | CA408151774 | PRNP | c.173G>C (p.Gly58Ala) c.84G>C (p.Gly28=) | |
| 20 | g.4699393G>T | CA408151775 | PRNP | c.173G>T (p.Gly58Val) c.84G>T (p.Gly28=) | |
| 20 | g.4699394G>A | CA509567672 | PRNP | c.174G>A (p.Gly58=) c.85G>A (p.Ala29Thr) | dbSNP gnomAD v4 |
| 20 | g.4699394G>C | CA509567670 | PRNP | c.174G>C (p.Gly58=) c.85G>C (p.Ala29Pro) | |
| 20 | g.4699394G= | CA2347156421 | PRNP | c.174G= (p.Gly58=) c.85G= (p.Ala29=) | |
| 20 | g.4699394G>T | CA509567669 | PRNP | c.174G>T (p.Gly58=) c.85G>T (p.Ala29Ser) | dbSNP gnomAD v4 |
| 20 | g.4699395C>A | CA408151776 | PRNP | c.175C>A (p.Gln59Lys) c.86C>A (p.Ala29Glu) | dbSNP |
| 20 | g.4699395C= | CA2347156422 | PRNP | c.175C= (p.Gln59=) c.86C= (p.Ala29=) | |
| 20 | g.4699395C>G | CA408151777 | PRNP | c.175C>G (p.Gln59Glu) c.86C>G (p.Ala29Gly) | |
| 20 | g.4699395C>T | CA408151778 | PRNP | c.175C>T (p.Gln59Ter) c.86C>T (p.Ala29Val) | |
| 20 | g.4699423_4699424insCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCC | CA2815112094 | PRNP | c.203_204insCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Pro68_His69insHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnPro) c.114_115insCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Ala38_Ser39insProTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGlyAlaAla) | |
| 20 | g.4699418_4699489del | CA2651785446 | PRNP | c.198_269del (p.Gln67_Gly90del) c.109_180del (p.Ala37_Gly60del) | gnomAD v4 |
| 20 | g.4699396del | CA2651785447 | PRNP | c.176del (p.Gln59ArgfsTer?) c.87del (p.Ala30ProfsTer?) | gnomAD v4 |
| 20 | g.4699396A>C | CA408151780 | PRNP | c.176A>C (p.Gln59Pro) c.87A>C (p.Ala29=) | |
| 20 | g.4699396A>G | CA408151781 | PRNP | c.176A>G (p.Gln59Arg) c.87A>G (p.Ala29=) | |
| 20 | g.4699396A>T | CA408151779 | PRNP | c.176A>T (p.Gln59Leu) c.87A>T (p.Ala29=) | |
| 20 | g.4699397G>A | CA509567675 | PRNP | c.177G>A (p.Gln59=) c.88G>A (p.Ala30Thr) | |
| 20 | g.4699397G>C | CA408151782 | PRNP | c.177G>C (p.Gln59His) c.88G>C (p.Ala30Pro) | |
| 20 | g.4699397G>T | CA408151783 | PRNP | c.177G>T (p.Gln59His) c.88G>T (p.Ala30Ser) | |
| 20 | g.4699398C>A | CA408151784 | PRNP | c.178C>A (p.Pro60Thr) c.89C>A (p.Ala30Asp) | gnomAD v4 |
| 20 | g.4699398C>G | CA408151785 | PRNP | c.178C>G (p.Pro60Ala) c.89C>G (p.Ala30Gly) | |
| 20 | g.4699398C>T | CA408151786 | PRNP | c.178C>T (p.Pro60Ser) c.89C>T (p.Ala30Val) | |
| 20 | g.4699399C>A | CA408151787 | PRNP | c.179C>A (p.Pro60His) c.90C>A (p.Ala30=) | |
| 20 | g.4699399C= | CA2347156423 | PRNP | c.179C= (p.Pro60=) c.90C= (p.Ala30=) | |
| 20 | g.4699399C>G | CA408151788 | PRNP | c.179C>G (p.Pro60Arg) c.90C>G (p.Ala30=) | |
| 20 | g.4699399C>T | CA9752021 | PRNP | c.179C>T (p.Pro60Leu) c.90C>T (p.Ala30=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699400T>A | CA509567682 | PRNP | c.180T>A (p.Pro60=) c.91T>A (p.Ser31Thr) | |
| 20 | g.4699400T>C | CA509567684 | PRNP | c.180T>C (p.Pro60=) c.91T>C (p.Ser31Pro) | ClinVar dbSNP gnomAD v4 |
| 20 | g.4699400T>G | CA509567685 | PRNP | c.180T>G (p.Pro60=) c.91T>G (p.Ser31Ala) | |
| 20 | g.4699400T= | CA2347156425 | PRNP | c.180T= (p.Pro60=) c.91T= (p.Ser31=) | |
| 20 | g.4699400_4699448delinsTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCC | CA2347156424 | PRNP | c.180_228delinsTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCC (p.Pro60=) c.91_139delinsTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCC (p.Ser31=) | |
| 20 | g.4699401C>A | CA408151789 | PRNP | c.181C>A (p.His61Asn) c.92C>A (p.Ser31Ter) | |
| 20 | g.4699401C>G | CA408151790 | PRNP | c.181C>G (p.His61Asp) c.92C>G (p.Ser31Ter) | |
| 20 | g.4699401C>T | CA408151791 | PRNP | c.181C>T (p.His61Tyr) c.92C>T (p.Ser31Leu) | |
| 20 | g.4699418_4699465dup | CA1014957580 | PRNP | c.198_245dup (p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGly) c.109_156dup (p.Gly52_Thr53insAlaAlaSerTrpTrpTrpLeuGlyAlaAlaProTrpTrpTrpLeuGly) | gnomAD v3 gnomAD v4 |
| 20 | g.4699418_4699465del | CA9752022 | PRNP | c.198_245del (p.Gln67_Gly82del) c.109_156del (p.Ala37_Gly52del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699402A= | CA2347156426 | PRNP | c.182A= (p.His61=) c.93A= (p.Ser31=) | |
| 20 | g.4699402A>C | CA408151792 | PRNP | c.182A>C (p.His61Pro) c.93A>C (p.Ser31=) | |
| 20 | g.4699402A>G | CA408151793 | PRNP | c.182A>G (p.His61Arg) c.93A>G (p.Ser31=) | gnomAD v4 |
| 20 | g.4699402A>T | CA408151794 | PRNP | c.182A>T (p.His61Leu) c.93A>T (p.Ser31=) | dbSNP |
| 20 | g.4699402_4699404del | CA2651785448 | PRNP | c.182_184del (p.His61_Gly62delinsArg) c.93_95del (p.Trp32del) | gnomAD v4 |
| 20 | g.4699403T>A | CA408151795 | PRNP | c.183T>A (p.His61Gln) c.94T>A (p.Trp32Arg) | |
| 20 | g.4699403T>C | CA509567690 | PRNP | c.183T>C (p.His61=) c.94T>C (p.Trp32Arg) | |
| 20 | g.4699403T>G | CA408151796 | PRNP | c.183T>G (p.His61Gln) c.94T>G (p.Trp32Gly) | |
| 20 | g.4699404G>A | CA408151797 | PRNP | c.184G>A (p.Gly62Ser) c.95G>A (p.Trp32Ter) | dbSNP gnomAD v4 |
| 20 | g.4699404G>C | CA408151798 | PRNP | c.184G>C (p.Gly62Arg) c.95G>C (p.Trp32Ser) | |
| 20 | g.4699404G= | CA2347156427 | PRNP | c.184G= (p.Gly62=) c.95G= (p.Trp32=) | |
| 20 | g.4699404G>T | CA408151799 | PRNP | c.184G>T (p.Gly62Cys) c.95G>T (p.Trp32Leu) | |
| 20 | g.4699405G>A | CA408151800 | PRNP | c.185G>A (p.Gly62Asp) c.96G>A (p.Trp32Ter) | |
| 20 | g.4699405G>C | CA408151801 | PRNP | c.185G>C (p.Gly62Ala) c.96G>C (p.Trp32Cys) | |
| 20 | g.4699405G>T | CA408151802 | PRNP | c.185G>T (p.Gly62Val) c.96G>T (p.Trp32Cys) | gnomAD v4 |
| 20 | g.4699406T>A | CA509567695 | PRNP | c.186T>A (p.Gly62=) c.97T>A (p.Trp33Arg) | |
| 20 | g.4699406T>C | CA509567696 | PRNP | c.186T>C (p.Gly62=) c.97T>C (p.Trp33Arg) | |
| 20 | g.4699406T>G | CA509567697 | PRNP | c.186T>G (p.Gly62=) c.97T>G (p.Trp33Gly) | |
| 20 | g.4699407G>A | CA408151803 | PRNP | c.187G>A (p.Gly63Ser) c.98G>A (p.Trp33Ter) | dbSNP gnomAD v4 |
| 20 | g.4699407G>C | CA408151804 | PRNP | c.187G>C (p.Gly63Arg) c.98G>C (p.Trp33Ser) | |
| 20 | g.4699407G= | CA2347156428 | PRNP | c.187G= (p.Gly63=) c.98G= (p.Trp33=) | |
| 20 | g.4699407G>T | CA408151805 | PRNP | c.187G>T (p.Gly63Cys) c.98G>T (p.Trp33Leu) | |
| 20 | g.4699408del | CA2577330163 | PRNP | c.188del (p.Gly63ValfsTer?) c.99del (p.Trp33CysfsTer?) | |
| 20 | g.4699408G>A | CA408151806 | PRNP | c.188G>A (p.Gly63Asp) c.99G>A (p.Trp33Ter) | |
| 20 | g.4699408G>C | CA408151807 | PRNP | c.188G>C (p.Gly63Ala) c.99G>C (p.Trp33Cys) | |
| 20 | g.4699408G>T | CA408151808 | PRNP | c.188G>T (p.Gly63Val) c.99G>T (p.Trp33Cys) | gnomAD v4 |
| 20 | g.4699409T>A | CA9752023 | PRNP | c.189T>A (p.Gly63=) c.100T>A (p.Trp34Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699409T>C | CA509567700 | PRNP | c.189T>C (p.Gly63=) c.100T>C (p.Trp34Arg) | |
| 20 | g.4699409T>G | CA509567701 | PRNP | c.189T>G (p.Gly63=) c.100T>G (p.Trp34Gly) | |
| 20 | g.4699409T= | CA2347156429 | PRNP | c.189T= (p.Gly63=) c.100T= (p.Trp34=) | |
| 20 | g.4699410G>A | CA408151811 | PRNP | c.190G>A (p.Gly64Ser) c.101G>A (p.Trp34Ter) | |
| 20 | g.4699410G>C | CA408151810 | PRNP | c.190G>C (p.Gly64Arg) c.101G>C (p.Trp34Ser) | |
| 20 | g.4699410G>T | CA408151809 | PRNP | c.190G>T (p.Gly64Cys) c.101G>T (p.Trp34Leu) | |
| 20 | g.4699411G>A | CA408151814 | PRNP | c.191G>A (p.Gly64Asp) c.102G>A (p.Trp34Ter) | |
| 20 | g.4699411G>C | CA408151813 | PRNP | c.191G>C (p.Gly64Ala) c.102G>C (p.Trp34Cys) | |
| 20 | g.4699411G>T | CA408151812 | PRNP | c.191G>T (p.Gly64Val) c.102G>T (p.Trp34Cys) | |
| 20 | g.4699412C>A | CA509567705 | PRNP | c.192C>A (p.Gly64=) c.103C>A (p.Leu35Met) | |
| 20 | g.4699412C>G | CA509567706 | PRNP | c.192C>G (p.Gly64=) c.103C>G (p.Leu35Val) | |
| 20 | g.4699412C>T | CA509567708 | PRNP | c.192C>T (p.Gly64=) c.103C>T (p.Leu35=) | |
| 20 | g.4699413T>A | CA408151815 | PRNP | c.193T>A (p.Trp65Arg) c.104T>A (p.Leu35Gln) | |
| 20 | g.4699413T>C | CA408151816 | PRNP | c.193T>C (p.Trp65Arg) c.104T>C (p.Leu35Pro) | |
| 20 | g.4699413T>G | CA408151817 | PRNP | c.193T>G (p.Trp65Gly) c.104T>G (p.Leu35Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699413T= | CA2347156430 | PRNP | c.193T= (p.Trp65=) c.104T= (p.Leu35=) | |
| 20 | g.4699414G>A | CA408151818 | PRNP | c.194G>A (p.Trp65Ter) c.105G>A (p.Leu35=) | |
| 20 | g.4699414G>C | CA408151819 | PRNP | c.194G>C (p.Trp65Ser) c.105G>C (p.Leu35=) | |
| 20 | g.4699414G>T | CA408151820 | PRNP | c.194G>T (p.Trp65Leu) c.105G>T (p.Leu35=) | |
| 20 | g.4699418dup | CA2832574535 | PRNP | c.198dup (p.Gln67AlafsTer?) c.109dup (p.Ala37GlyfsTer?) | |
| 20 | g.4699418del | CA645600593 | PRNP | c.198del (p.Gln67SerfsTer?) c.109del (p.Ala37GlnfsTer?) | COSMIC |
| 20 | g.4699415G>A | CA408151821 | PRNP | c.195G>A (p.Trp65Ter) c.106G>A (p.Gly36Arg) | dbSNP |
| 20 | g.4699415G>C | CA408151822 | PRNP | c.195G>C (p.Trp65Cys) c.106G>C (p.Gly36Arg) | |
| 20 | g.4699415G= | CA2347156431 | PRNP | c.195G= (p.Trp65=) c.106G= (p.Gly36=) | |
| 20 | g.4699415G>T | CA408151823 | PRNP | c.195G>T (p.Trp65Cys) c.106G>T (p.Gly36Trp) | |
| 20 | g.4699416G>A | CA408151824 | PRNP | c.196G>A (p.Gly66Arg) c.107G>A (p.Gly36Glu) | |
| 20 | g.4699416G>C | CA408151825 | PRNP | c.196G>C (p.Gly66Arg) c.107G>C (p.Gly36Ala) | |
| 20 | g.4699416G>T | CA408151826 | PRNP | c.196G>T (p.Gly66Trp) c.107G>T (p.Gly36Val) | |
| 20 | g.4699417G>A | CA408151827 | PRNP | c.197G>A (p.Gly66Glu) c.108G>A (p.Gly36=) | |
| 20 | g.4699417G>C | CA408151829 | PRNP | c.197G>C (p.Gly66Ala) c.108G>C (p.Gly36=) | |
| 20 | g.4699417G>T | CA408151828 | PRNP | c.197G>T (p.Gly66Val) c.108G>T (p.Gly36=) | |
| 20 | g.4699418G>A | CA9752025 | PRNP | c.198G>A (p.Gly66=) c.109G>A (p.Ala37Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699418G>C | CA509567722 | PRNP | c.198G>C (p.Gly66=) c.109G>C (p.Ala37Pro) | |
| 20 | g.4699418G= | CA2347156432 | PRNP | c.198G= (p.Gly66=) c.109G= (p.Ala37=) | |
| 20 | g.4699418G>T | CA509567723 | PRNP | c.198G>T (p.Gly66=) c.109G>T (p.Ala37Ser) | |
| 20 | g.4699418_4699466delinsGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGA | CA2347156433 | PRNP | c.198_246delinsGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGA (p.Gly66=) c.109_157delinsGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGA (p.Ala37=) | |
| 20 | g.4699419C>A | CA408151830 | PRNP | c.199C>A (p.Gln67Lys) c.110C>A (p.Ala37Glu) | dbSNP gnomAD v4 |
| 20 | g.4699419C= | CA2347156434 | PRNP | c.199C= (p.Gln67=) c.110C= (p.Ala37=) | |
| 20 | g.4699419C>G | CA408151831 | PRNP | c.199C>G (p.Gln67Glu) c.110C>G (p.Ala37Gly) | |
| 20 | g.4699419C>T | CA408151832 | PRNP | c.199C>T (p.Gln67Ter) c.110C>T (p.Ala37Val) | |
| 20 | g.4699441_4699442insACAGCCTCATGGTGGTGGCTGGGG | CA2651785449 | PRNP | c.221_222insACAGCCTCATGGTGGTGGCTGGGG (p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly) c.132_133insACAGCCTCATGGTGGTGGCTGGGG (p.Gly44_Ala45insThrAlaSerTrpTrpTrpLeuGly) | gnomAD v4 |
| 20 | g.4699441_4699442insACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG | CA634331359 | PRNP | c.221_222insACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG (p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGly) c.132_133insACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG (p.Gly44_Ala45insThrAlaSerTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699442_4699489dup | CA1014957589 | PRNP | c.222_269dup (p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGly) c.133_180dup (p.Gly60_Ser61insAlaAlaProTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGly) | gnomAD v3 gnomAD v4 |
| 20 | g.4699442_4699489del | CA9752024 | PRNP | c.222_269del (p.Gln75_Gly90del) c.133_180del (p.Ala45_Gly60del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699420A>C | CA408151833 | PRNP | c.200A>C (p.Gln67Pro) c.111A>C (p.Ala37=) | |
| 20 | g.4699420A>G | CA408151834 | PRNP | c.200A>G (p.Gln67Arg) c.111A>G (p.Ala37=) | |
| 20 | g.4699420A>T | CA408151835 | PRNP | c.200A>T (p.Gln67Leu) c.111A>T (p.Ala37=) | |
| 20 | g.4699421G>A | CA509567724 | PRNP | c.201G>A (p.Gln67=) c.112G>A (p.Ala38Thr) | |
| 20 | g.4699421G>C | CA408151836 | PRNP | c.201G>C (p.Gln67His) c.112G>C (p.Ala38Pro) | |
| 20 | g.4699421G>T | CA408151837 | PRNP | c.201G>T (p.Gln67His) c.112G>T (p.Ala38Ser) | |
| 20 | g.4699422C>A | CA408151839 | PRNP | c.202C>A (p.Pro68Thr) c.113C>A (p.Ala38Asp) | |
| 20 | g.4699422C>G | CA408151838 | PRNP | c.202C>G (p.Pro68Ala) c.113C>G (p.Ala38Gly) | |
| 20 | g.4699422C>T | CA408151840 | PRNP | c.202C>T (p.Pro68Ser) c.113C>T (p.Ala38Val) | |
| 20 | g.4699423C>A | CA408151841 | PRNP | c.203C>A (p.Pro68His) c.114C>A (p.Ala38=) | |
| 20 | g.4699423C= | CA2347156436 | PRNP | c.203C= (p.Pro68=) c.114C= (p.Ala38=) | |
| 20 | g.4699423C>G | CA408151842 | PRNP | c.203C>G (p.Pro68Arg) c.114C>G (p.Ala38=) | |
| 20 | g.4699423C>T | CA408151843 | PRNP | c.203C>T (p.Pro68Leu) c.114C>T (p.Ala38=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699423_4699424delinsCT | CA2347156435 | PRNP | c.203_204delinsCT (p.Pro68=) c.114_115delinsCT (p.Ala38=) | |
| 20 | g.4699423_4699424insCCA | CA2815112095 | PRNP | c.203_204insCCA (p.Pro68_His69insHis) c.114_115insCCA (p.Ala38_Ser39insPro) | |
| 20 | g.4699424del | CA634331360 | PRNP | c.204del (p.His69MetfsTer?) c.115del (p.Ser39HisfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699424T>A | CA509567728 | PRNP | c.204T>A (p.Pro68=) c.115T>A (p.Ser39Thr) | |
| 20 | g.4699424T>C | CA9752026 | PRNP | c.204T>C (p.Pro68=) c.115T>C (p.Ser39Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699424T>G | CA509567730 | PRNP | c.204T>G (p.Pro68=) c.115T>G (p.Ser39Ala) | |
| 20 | g.4699424T= | CA2347156438 | PRNP | c.204T= (p.Pro68=) c.115T= (p.Ser39=) | |
| 20 | g.4699424_4699448delinsTCATGGTGGTGGCTGGGGGCAGCCC | CA2347156437 | PRNP | c.204_228delinsTCATGGTGGTGGCTGGGGGCAGCCC (p.Pro68=) c.115_139delinsTCATGGTGGTGGCTGGGGGCAGCCC (p.Ser39=) | |
| 20 | g.4699424_4699425insGGTGGTGGCTGGGGGCAGCCC | CA2815112096 | PRNP | c.204_205insGGTGGTGGCTGGGGGCAGCCC (p.Pro68_His69insGlyGlyGlyTrpGlyGlnPro) c.115_116insGGTGGTGGCTGGGGGCAGCCC (p.Ser39delinsTrpTrpTrpLeuGlyAlaAlaPro) | |
| 20 | g.4699425C>A | CA408151844 | PRNP | c.205C>A (p.His69Asn) c.116C>A (p.Ser39Ter) | |
| 20 | g.4699425C= | CA2347156441 | PRNP | c.205C= (p.His69=) c.116C= (p.Ser39=) | |
| 20 | g.4699425C>G | CA408151845 | PRNP | c.205C>G (p.His69Asp) c.116C>G (p.Ser39Ter) | |
| 20 | g.4699425C>T | CA408151846 | PRNP | c.205C>T (p.His69Tyr) c.116C>T (p.Ser39Leu) | dbSNP gnomAD v4 |
| 20 | g.4699425_4699428delinsCATG | CA2347156439 | PRNP | c.205_208delinsCATG (p.His69=) c.116_119delinsCATG (p.Ser39=) | |
| 20 | g.4699442_4699465dup | CA9752027 | PRNP | c.222_245dup (p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly) c.133_156dup (p.Gly52_Thr53insAlaAlaProTrpTrpTrpLeuGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699442_4699465del | CA9752028 | PRNP | c.222_245del (p.Gln75_Gly82del) c.133_156del (p.Ala45_Gly52del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699425_4699472delinsCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCT | CA2347156440 | PRNP | c.205_252delinsCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCT (p.His69=) c.116_163delinsCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCT (p.Ser39=) | |
| 20 | g.4699426A= | CA2347156442 | PRNP | c.206A= (p.His69=) c.117A= (p.Ser39=) | |
| 20 | g.4699426A>C | CA408151847 | PRNP | c.206A>C (p.His69Pro) c.117A>C (p.Ser39=) | |
| 20 | g.4699426A>G | CA408151848 | PRNP | c.206A>G (p.His69Arg) c.117A>G (p.Ser39=) | dbSNP gnomAD v2 |
| 20 | g.4699426A>T | CA408151849 | PRNP | c.206A>T (p.His69Leu) c.117A>T (p.Ser39=) | ClinVar |
| 20 | g.4699426_4699428del | CA9752029 | PRNP | c.206_208del (p.His69_Gly70delinsArg) c.117_119del (p.Trp40del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699426_4699472del | CA634331320 | PRNP | c.206_252del (p.His69ProfsTer20) c.117_163del (p.Trp40MetfsTer25) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699427T>A | CA408151850 | PRNP | c.207T>A (p.His69Gln) c.118T>A (p.Trp40Arg) | dbSNP |
| 20 | g.4699427T>C | CA509567174 | PRNP | c.207T>C (p.His69=) c.118T>C (p.Trp40Arg) | |
| 20 | g.4699427T>G | CA408151851 | PRNP | c.207T>G (p.His69Gln) c.118T>G (p.Trp40Gly) | |
| 20 | g.4699427T= | CA2347156443 | PRNP | c.207T= (p.His69=) c.118T= (p.Trp40=) | |
| 20 | g.4699428G>A | CA408151852 | PRNP | c.208G>A (p.Gly70Ser) c.119G>A (p.Trp40Ter) | dbSNP |
| 20 | g.4699428G>C | CA408151853 | PRNP | c.208G>C (p.Gly70Arg) c.119G>C (p.Trp40Ser) | |
| 20 | g.4699428G= | CA2347156444 | PRNP | c.208G= (p.Gly70=) c.119G= (p.Trp40=) | |
| 20 | g.4699428G>T | CA408151854 | PRNP | c.208G>T (p.Gly70Cys) c.119G>T (p.Trp40Leu) | |
| 20 | g.4699429G>A | CA408151855 | PRNP | c.209G>A (p.Gly70Asp) c.120G>A (p.Trp40Ter) | |
| 20 | g.4699429G>C | CA408151856 | PRNP | c.209G>C (p.Gly70Ala) c.120G>C (p.Trp40Cys) | |
| 20 | g.4699429G>T | CA408151857 | PRNP | c.209G>T (p.Gly70Val) c.120G>T (p.Trp40Cys) | |
| 20 | g.4699430T>A | CA509567176 | PRNP | c.210T>A (p.Gly70=) c.121T>A (p.Trp41Arg) | |
| 20 | g.4699430T>C | CA509567177 | PRNP | c.210T>C (p.Gly70=) c.121T>C (p.Trp41Arg) | |
| 20 | g.4699430T>G | CA509567179 | PRNP | c.210T>G (p.Gly70=) c.121T>G (p.Trp41Gly) | |
| 20 | g.4699431G>A | CA9752030 | PRNP | c.211G>A (p.Gly71Ser) c.122G>A (p.Trp41Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699431G>C | CA408151858 | PRNP | c.211G>C (p.Gly71Arg) c.122G>C (p.Trp41Ser) | |
| 20 | g.4699431G= | CA2347156445 | PRNP | c.211G= (p.Gly71=) c.122G= (p.Trp41=) | |
| 20 | g.4699431G>T | CA408151859 | PRNP | c.211G>T (p.Gly71Cys) c.122G>T (p.Trp41Leu) | |
| 20 | g.4699432G>A | CA408151860 | PRNP | c.212G>A (p.Gly71Asp) c.123G>A (p.Trp41Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699432G>C | CA408151861 | PRNP | c.212G>C (p.Gly71Ala) c.123G>C (p.Trp41Cys) | |
| 20 | g.4699432G= | CA2347156446 | PRNP | c.212G= (p.Gly71=) c.123G= (p.Trp41=) | |
| 20 | g.4699432G>T | CA408151862 | PRNP | c.212G>T (p.Gly71Val) c.123G>T (p.Trp41Cys) | |
| 20 | g.4699433T>A | CA509567183 | PRNP | c.213T>A (p.Gly71=) c.124T>A (p.Trp42Arg) | gnomAD v4 |
| 20 | g.4699433T>C | CA509567185 | PRNP | c.213T>C (p.Gly71=) c.124T>C (p.Trp42Arg) | |
| 20 | g.4699433T>G | CA509567187 | PRNP | c.213T>G (p.Gly71=) c.124T>G (p.Trp42Gly) | |
| 20 | g.4699434G>A | CA408151865 | PRNP | c.214G>A (p.Gly72Ser) c.125G>A (p.Trp42Ter) | dbSNP gnomAD v4 |
| 20 | g.4699434G>C | CA408151863 | PRNP | c.214G>C (p.Gly72Arg) c.125G>C (p.Trp42Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699434G= | CA2347156447 | PRNP | c.214G= (p.Gly72=) c.125G= (p.Trp42=) | |
| 20 | g.4699434G>T | CA408151864 | PRNP | c.214G>T (p.Gly72Cys) c.125G>T (p.Trp42Leu) | dbSNP gnomAD v2 |
| 20 | g.4699435G>A | CA408151866 | PRNP | c.215G>A (p.Gly72Asp) c.126G>A (p.Trp42Ter) | |
| 20 | g.4699435G>C | CA408151868 | PRNP | c.215G>C (p.Gly72Ala) c.126G>C (p.Trp42Cys) | |
| 20 | g.4699435G>T | CA408151867 | PRNP | c.215G>T (p.Gly72Val) c.126G>T (p.Trp42Cys) | |
| 20 | g.4699436C>A | CA509567189 | PRNP | c.216C>A (p.Gly72=) c.127C>A (p.Leu43Met) | |
| 20 | g.4699436C= | CA2347156448 | PRNP | c.216C= (p.Gly72=) c.127C= (p.Leu43=) | |
| 20 | g.4699436C>G | CA509567191 | PRNP | c.216C>G (p.Gly72=) c.127C>G (p.Leu43Val) | |
| 20 | g.4699436C>T | CA509567193 | PRNP | c.216C>T (p.Gly72=) c.127C>T (p.Leu43=) | dbSNP |
| 20 | g.4699437T>A | CA408151869 | PRNP | c.217T>A (p.Trp73Arg) c.128T>A (p.Leu43Gln) | |
| 20 | g.4699437T>C | CA408151870 | PRNP | c.217T>C (p.Trp73Arg) c.128T>C (p.Leu43Pro) | |
| 20 | g.4699437T>G | CA408151871 | PRNP | c.217T>G (p.Trp73Gly) c.128T>G (p.Leu43Arg) | gnomAD v4 |
| 20 | g.4699437_4699438delinsTG | CA2347156449 | PRNP | c.217_218delinsTG (p.Trp73=) c.128_129delinsTG (p.Leu43=) | |
| 20 | g.4699438G>A | CA408151872 | PRNP | c.218G>A (p.Trp73Ter) c.129G>A (p.Leu43=) | gnomAD v4 |
| 20 | g.4699438G>C | CA408151873 | PRNP | c.218G>C (p.Trp73Ser) c.129G>C (p.Leu43=) | dbSNP |
| 20 | g.4699438G= | CA2347156450 | PRNP | c.218G= (p.Trp73=) c.129G= (p.Leu43=) | |
| 20 | g.4699438G>T | CA408151874 | PRNP | c.218G>T (p.Trp73Leu) c.129G>T (p.Leu43=) | |
| 20 | g.4699442dup | CA2832574536 | PRNP | c.222dup (p.Gln75AlafsTer30) c.133dup (p.Ala45GlyfsTer?) | |
| 20 | g.4699442del | CA1014957614 | PRNP | c.222del (p.Gln75SerfsTer?) c.133del (p.Ala45GlnfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699439G>A | CA408151875 | PRNP | c.219G>A (p.Trp73Ter) c.130G>A (p.Gly44Arg) | |
| 20 | g.4699439G>C | CA311093255 | PRNP | c.219G>C (p.Trp73Cys) c.130G>C (p.Gly44Arg) | dbSNP |
| 20 | g.4699439G= | CA2347156451 | PRNP | c.219G= (p.Trp73=) c.130G= (p.Gly44=) | |
| 20 | g.4699439G>T | CA408151876 | PRNP | c.219G>T (p.Trp73Cys) c.130G>T (p.Gly44Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699440G>A | CA408151877 | PRNP | c.220G>A (p.Gly74Arg) c.131G>A (p.Gly44Glu) | |
| 20 | g.4699440G>C | CA408151878 | PRNP | c.220G>C (p.Gly74Arg) c.131G>C (p.Gly44Ala) | |
| 20 | g.4699440G= | CA2347156452 | PRNP | c.220G= (p.Gly74=) c.131G= (p.Gly44=) | |
| 20 | g.4699440G>T | CA408151879 | PRNP | c.220G>T (p.Gly74Trp) c.131G>T (p.Gly44Val) | dbSNP gnomAD v2 |
| 20 | g.4699441G>A | CA408151882 | PRNP | c.221G>A (p.Gly74Glu) c.132G>A (p.Gly44=) | |
| 20 | g.4699441G>C | CA408151880 | PRNP | c.221G>C (p.Gly74Ala) c.132G>C (p.Gly44=) | |
| 20 | g.4699441G>T | CA408151881 | PRNP | c.221G>T (p.Gly74Val) c.132G>T (p.Gly44=) | |
| 20 | g.4699441_4699444delinsGGCA | CA2347156453 | PRNP | c.221_224delinsGGCA (p.Gly74=) c.132_135delinsGGCA (p.Gly44=) | |
| 20 | g.4699442G>A | CA9752032 | PRNP | c.222G>A (p.Gly74=) c.133G>A (p.Ala45Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.4699442G>C | CA509567197 | PRNP | c.222G>C (p.Gly74=) c.133G>C (p.Ala45Pro) | |
| 20 | g.4699442G= | CA2347156454 | PRNP | c.222G= (p.Gly74=) c.133G= (p.Ala45=) | |
| 20 | g.4699442G>T | CA509567199 | PRNP | c.222G>T (p.Gly74=) c.133G>T (p.Ala45Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699444_4699446del | CA634331321 | PRNP | c.224_226del (p.Gln75del) c.135_137del (p.Ala46del) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699442_4699466delinsGCAGCCCCATGGTGGTGGCTGGGGA | CA2347156455 | PRNP | c.222_246delinsGCAGCCCCATGGTGGTGGCTGGGGA (p.Gly74=) c.133_157delinsGCAGCCCCATGGTGGTGGCTGGGGA (p.Ala45=) | |
| 20 | g.4699443C>A | CA408151883 | PRNP | c.223C>A (p.Gln75Lys) c.134C>A (p.Ala45Glu) | gnomAD v4 |
| 20 | g.4699443C= | CA2347156456 | PRNP | c.223C= (p.Gln75=) c.134C= (p.Ala45=) | |
| 20 | g.4699443C>G | CA408151884 | PRNP | c.223C>G (p.Gln75Glu) c.134C>G (p.Ala45Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699443C>T | CA9752033 | PRNP | c.223C>T (p.Gln75Ter) c.134C>T (p.Ala45Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699448_4699471dup | CA9752031 | PRNP | c.228_251dup (p.Pro84_His85insHisGlyGlyGlyTrpGlyGlnPro) c.139_162dup (p.Ala54_Ser55insProTrpTrpTrpLeuGlyThrAla) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699448_4699471del | CA509567202 | PRNP | c.228_251del (p.His77_Pro84del) c.139_162del (p.Pro47_Ala54del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699444A>C | CA408151885 | PRNP | c.224A>C (p.Gln75Pro) c.135A>C (p.Ala45=) | |
| 20 | g.4699444A>G | CA408151886 | PRNP | c.224A>G (p.Gln75Arg) c.135A>G (p.Ala45=) | gnomAD v4 |
| 20 | g.4699444A>T | CA408151887 | PRNP | c.224A>T (p.Gln75Leu) c.135A>T (p.Ala45=) | |
| 20 | g.4699444_4699447delinsAGCC | CA2347156457 | PRNP | c.224_227delinsAGCC (p.Gln75=) c.135_138delinsAGCC (p.Ala45=) | |
| 20 | g.4699445G>A | CA9752034 | PRNP | c.225G>A (p.Gln75=) c.136G>A (p.Ala46Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699445G>C | CA408151888 | PRNP | c.225G>C (p.Gln75His) c.136G>C (p.Ala46Pro) | |
| 20 | g.4699445G= | CA2347156458 | PRNP | c.225G= (p.Gln75=) c.136G= (p.Ala46=) | |
| 20 | g.4699445G>T | CA408151889 | PRNP | c.225G>T (p.Gln75His) c.136G>T (p.Ala46Ser) | |
| 20 | g.4699445_4699447del | CA634331322 | PRNP | c.225_227del (p.Gln75_Pro76delinsHis) c.136_138del (p.Ala46del) | dbSNP gnomAD v2 |
| 20 | g.4699446C>A | CA408151892 | PRNP | c.226C>A (p.Pro76Thr) c.137C>A (p.Ala46Asp) | |
| 20 | g.4699446C>G | CA408151891 | PRNP | c.226C>G (p.Pro76Ala) c.137C>G (p.Ala46Gly) | |
| 20 | g.4699446C>T | CA408151890 | PRNP | c.226C>T (p.Pro76Ser) c.137C>T (p.Ala46Val) | |
| 20 | g.4699447C>A | CA408151894 | PRNP | c.227C>A (p.Pro76His) c.138C>A (p.Ala46=) | |
| 20 | g.4699447C= | CA2347156459 | PRNP | c.227C= (p.Pro76=) c.138C= (p.Ala46=) | |
| 20 | g.4699447C>G | CA9752035 | PRNP | c.227C>G (p.Pro76Arg) c.138C>G (p.Ala46=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699447C>T | CA408151893 | PRNP | c.227C>T (p.Pro76Leu) c.138C>T (p.Ala46=) |