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 |
|---|---|---|---|---|---|
| 20 | g.4699605_4699611delinsGTGCTGA | CA2695229269 | PRNP | c.385_391delinsGTGCTGA (p.Met129_Gly131delinsValLeuArg) c.*74_*80delinsGTGCTGA (n.*74_*80delinsGTGCTGA) | |
| 20 | g.4699606T>A | CA408152236 | PRNP | c.386T>A (p.Met129Lys) c.*75T>A (n.*75T>A) | |
| 20 | g.4699606T>C | CA9752063 | PRNP | c.386T>C (p.Met129Thr) c.*75T>C (n.*75T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699606T>G | CA408152237 | PRNP | c.386T>G (p.Met129Arg) c.*75T>G (n.*75T>G) | |
| 20 | g.4699606T= | CA2347156523 | PRNP | c.386T= (p.Met129=) c.*75T= (n.*75T=) | |
| 20 | g.4699607G>A | CA408152238 | PRNP | c.387G>A (p.Met129Ile) c.*76G>A (n.*76G>A) | gnomAD v4 |
| 20 | g.4699607G>C | CA408152239 | PRNP | c.387G>C (p.Met129Ile) c.*76G>C (n.*76G>C) | |
| 20 | g.4699607G>T | CA408152240 | PRNP | c.387G>T (p.Met129Ile) c.*76G>T (n.*76G>T) | |
| 20 | g.4699608C>A | CA408152241 | PRNP | c.388C>A (p.Leu130Met) c.*77C>A (n.*77C>A) | |
| 20 | g.4699608C>G | CA408152242 | PRNP | c.388C>G (p.Leu130Val) c.*77C>G (n.*77C>G) | |
| 20 | g.4699608C>T | CA509567676 | PRNP | c.388C>T (p.Leu130=) c.*77C>T (n.*77C>T) | |
| 20 | g.4699609T>A | CA408152243 | PRNP | c.389T>A (p.Leu130Gln) c.*78T>A (n.*78T>A) | |
| 20 | g.4699609T>C | CA408152244 | PRNP | c.389T>C (p.Leu130Pro) c.*78T>C (n.*78T>C) | gnomAD v4 |
| 20 | g.4699609T>G | CA408152245 | PRNP | c.389T>G (p.Leu130Arg) c.*78T>G (n.*78T>G) | |
| 20 | g.4699610G>A | CA509567677 | PRNP | c.390G>A (p.Leu130=) c.*79G>A (n.*79G>A) | dbSNP |
| 20 | g.4699610G>C | CA509567678 | PRNP | c.390G>C (p.Leu130=) c.*79G>C (n.*79G>C) | |
| 20 | g.4699610G= | CA2347156524 | PRNP | c.390G= (p.Leu130=) c.*79G= (n.*79G=) | |
| 20 | g.4699610G>T | CA509567679 | PRNP | c.390G>T (p.Leu130=) c.*79G>T (n.*79G>T) | gnomAD v4 |
| 20 | g.4699611G>A | CA311093355 | PRNP | c.391G>A (p.Gly131Arg) c.*80G>A (n.*80G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699611G>C | CA408152246 | PRNP | c.391G>C (p.Gly131Arg) c.*80G>C (n.*80G>C) | |
| 20 | g.4699611G= | CA2347156525 | PRNP | c.391G= (p.Gly131=) c.*80G= (n.*80G=) | |
| 20 | g.4699611G>T | CA9752064 | PRNP | c.391G>T (p.Gly131Ter) c.*80G>T (n.*80G>T) | dbSNP ExAC gnomAD v2 |
| 20 | g.4699612G>A | CA408152247 | PRNP | c.392G>A (p.Gly131Glu) c.*81G>A (n.*81G>A) | ClinVar dbSNP |
| 20 | g.4699612G>C | CA408152248 | PRNP | c.392G>C (p.Gly131Ala) c.*81G>C (n.*81G>C) | |
| 20 | g.4699612G= | CA2347156526 | PRNP | c.392G= (p.Gly131=) c.*81G= (n.*81G=) | |
| 20 | g.4699612G>T | CA256784 | PRNP | c.392G>T (p.Gly131Val) c.*81G>T (n.*81G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.4699613A= | CA2347156527 | PRNP | c.393A= (p.Gly131=) c.*82A= (n.*82A=) | |
| 20 | g.4699613A>C | CA509567683 | PRNP | c.393A>C (p.Gly131=) c.*82A>C (n.*82A>C) | |
| 20 | g.4699613A>G | CA9752065 | PRNP | c.393A>G (p.Gly131=) c.*82A>G (n.*82A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699613A>T | CA509567686 | PRNP | c.393A>T (p.Gly131=) c.*82A>T (n.*82A>T) | |
| 20 | g.4699614A>C | CA408152249 | PRNP | c.394A>C (p.Ser132Arg) c.*83A>C (n.*83A>C) | |
| 20 | g.4699614A>G | CA408152250 | PRNP | c.394A>G (p.Ser132Gly) c.*83A>G (n.*83A>G) | |
| 20 | g.4699614A>T | CA408152251 | PRNP | c.394A>T (p.Ser132Cys) c.*83A>T (n.*83A>T) | |
| 20 | g.4699615G>A | CA408152252 | PRNP | c.395G>A (p.Ser132Asn) c.*84G>A (n.*84G>A) | |
| 20 | g.4699615G>C | CA408152253 | PRNP | c.395G>C (p.Ser132Thr) c.*84G>C (n.*84G>C) | |
| 20 | g.4699615G>T | CA408152254 | PRNP | c.395G>T (p.Ser132Ile) c.*84G>T (n.*84G>T) | COSMIC |
| 20 | g.4699616T>A | CA408152255 | PRNP | c.396T>A (p.Ser132Arg) c.*85T>A (n.*85T>A) | |
| 20 | g.4699616T>C | CA9752066 | PRNP | c.396T>C (p.Ser132=) c.*85T>C (n.*85T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699616T>G | CA408152256 | PRNP | c.396T>G (p.Ser132Arg) c.*85T>G (n.*85T>G) | |
| 20 | g.4699616T= | CA2347156528 | PRNP | c.396T= (p.Ser132=) c.*85T= (n.*85T=) | |
| 20 | g.4699617G>A | CA408152259 | PRNP | c.397G>A (p.Ala133Thr) c.*86G>A (n.*86G>A) | |
| 20 | g.4699617G>C | CA408152258 | PRNP | c.397G>C (p.Ala133Pro) c.*86G>C (n.*86G>C) | |
| 20 | g.4699617G>T | CA408152257 | PRNP | c.397G>T (p.Ala133Ser) c.*86G>T (n.*86G>T) | |
| 20 | g.4699618C>A | CA408152261 | PRNP | c.398C>A (p.Ala133Asp) c.*87C>A (n.*87C>A) | |
| 20 | g.4699618C= | CA2347156529 | PRNP | c.398C= (p.Ala133=) c.*87C= (n.*87C=) | |
| 20 | g.4699618C>G | CA408152260 | PRNP | c.398C>G (p.Ala133Gly) c.*87C>G (n.*87C>G) | |
| 20 | g.4699618C>T | CA256786 | PRNP | c.398C>T (p.Ala133Val) c.*87C>T (n.*87C>T) | ClinVar dbSNP |
| 20 | g.4699619C>A | CA509567692 | PRNP | c.399C>A (p.Ala133=) c.*88C>A (n.*88C>A) | |
| 20 | g.4699619C>G | CA509567693 | PRNP | c.399C>G (p.Ala133=) c.*88C>G (n.*88C>G) | |
| 20 | g.4699619C>T | CA509567694 | PRNP | c.399C>T (p.Ala133=) c.*88C>T (n.*88C>T) | |
| 20 | g.4699620A>C | CA408152262 | PRNP | c.400A>C (p.Met134Leu) c.*89A>C (n.*89A>C) | gnomAD v4 |
| 20 | g.4699620A>G | CA408152263 | PRNP | c.400A>G (p.Met134Val) c.*89A>G (n.*89A>G) | gnomAD v4 |
| 20 | g.4699620A>T | CA408152264 | PRNP | c.400A>T (p.Met134Leu) c.*89A>T (n.*89A>T) | |
| 20 | g.4699621T>A | CA408152267 | PRNP | c.401T>A (p.Met134Lys) c.*90T>A (n.*90T>A) | |
| 20 | g.4699621T>C | CA408152266 | PRNP | c.401T>C (p.Met134Thr) c.*90T>C (n.*90T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699621T>G | CA408152265 | PRNP | c.401T>G (p.Met134Arg) c.*90T>G (n.*90T>G) | gnomAD v4 |
| 20 | g.4699621T= | CA2347156530 | PRNP | c.401T= (p.Met134=) c.*90T= (n.*90T=) | |
| 20 | g.4699622G>A | CA408152268 | PRNP | c.402G>A (p.Met134Ile) c.*91G>A (n.*91G>A) | |
| 20 | g.4699622G>C | CA408152269 | PRNP | c.402G>C (p.Met134Ile) c.*91G>C (n.*91G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699622G= | CA2347156531 | PRNP | c.402G= (p.Met134=) c.*91G= (n.*91G=) | |
| 20 | g.4699622G>T | CA408152270 | PRNP | c.402G>T (p.Met134Ile) c.*91G>T (n.*91G>T) | |
| 20 | g.4699623A>C | CA408152271 | PRNP | c.403A>C (p.Ser135Arg) c.*92A>C (n.*92A>C) | |
| 20 | g.4699623A>G | CA408152272 | PRNP | c.403A>G (p.Ser135Gly) c.*92A>G (n.*92A>G) | |
| 20 | g.4699623A>T | CA408152273 | PRNP | c.403A>T (p.Ser135Cys) c.*92A>T (n.*92A>T) | |
| 20 | g.4699624G>A | CA408152276 | PRNP | c.404G>A (p.Ser135Asn) c.*93G>A (n.*93G>A) | |
| 20 | g.4699624G>C | CA408152274 | PRNP | c.404G>C (p.Ser135Thr) c.*93G>C (n.*93G>C) | |
| 20 | g.4699624G>T | CA408152275 | PRNP | c.404G>T (p.Ser135Ile) c.*93G>T (n.*93G>T) | |
| 20 | g.4699625C>A | CA408152277 | PRNP | c.405C>A (p.Ser135Arg) c.*94C>A (n.*94C>A) | |
| 20 | g.4699625C>G | CA408152278 | PRNP | c.405C>G (p.Ser135Arg) c.*94C>G (n.*94C>G) | |
| 20 | g.4699625C>T | CA509567698 | PRNP | c.405C>T (p.Ser135=) c.*94C>T (n.*94C>T) | |
| 20 | g.4699626A= | CA2347156532 | PRNP | c.406A= (p.Arg136=) c.*95A= (n.*95A=) | |
| 20 | g.4699626A>C | CA509567699 | PRNP | c.406A>C (p.Arg136=) c.*95A>C (n.*95A>C) | |
| 20 | g.4699626A>G | CA408152279 | PRNP | c.406A>G (p.Arg136Gly) c.*95A>G (n.*95A>G) | |
| 20 | g.4699626A>T | CA311093364 | PRNP | c.406A>T (p.Arg136Trp) c.*95A>T (n.*95A>T) | dbSNP |
| 20 | g.4699627G>A | CA311093366 | PRNP | c.407G>A (p.Arg136Lys) c.*96G>A (n.*96G>A) | dbSNP |
| 20 | g.4699627G>C | CA311093368 | PRNP | c.407G>C (p.Arg136Thr) c.*96G>C (n.*96G>C) | ClinVar dbSNP gnomAD v4 |
| 20 | g.4699627G= | CA2347156533 | PRNP | c.407G= (p.Arg136=) c.*96G= (n.*96G=) | |
| 20 | g.4699627G>T | CA408152280 | PRNP | c.407G>T (p.Arg136Met) c.*96G>T (n.*96G>T) | |
| 20 | g.4699628dup | CA2651785455 | PRNP | c.408dup (p.Pro137AlafsTer8) c.*97dup (n.*97dup) | gnomAD v4 |
| 20 | g.4699628G>A | CA9752068 | PRNP | c.408G>A (p.Arg136=) c.*97G>A (n.*97G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699628G>C | CA408152281 | PRNP | c.408G>C (p.Arg136Ser) c.*97G>C (n.*97G>C) | |
| 20 | g.4699628G= | CA2347156534 | PRNP | c.408G= (p.Arg136=) c.*97G= (n.*97G=) | |
| 20 | g.4699628G>T | CA9752067 | PRNP | c.408G>T (p.Arg136Ser) c.*97G>T (n.*97G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699629C>A | CA408152282 | PRNP | c.409C>A (p.Pro137Thr) c.*98C>A (n.*98C>A) | |
| 20 | g.4699629C>G | CA408152283 | PRNP | c.409C>G (p.Pro137Ala) c.*98C>G (n.*98C>G) | |
| 20 | g.4699629C>T | CA408152284 | PRNP | c.409C>T (p.Pro137Ser) c.*98C>T (n.*98C>T) | |
| 20 | g.4699630C>A | CA408152285 | PRNP | c.410C>A (p.Pro137His) c.*99C>A (n.*99C>A) | |
| 20 | g.4699630C>G | CA408152287 | PRNP | c.410C>G (p.Pro137Arg) c.*99C>G (n.*99C>G) | |
| 20 | g.4699630C>T | CA408152286 | PRNP | c.410C>T (p.Pro137Leu) c.*99C>T (n.*99C>T) | gnomAD v4 |
| 20 | g.4699631C>A | CA509567707 | PRNP | c.411C>A (p.Pro137=) c.*100C>A (n.*100C>A) | |
| 20 | g.4699631C>G | CA509567709 | PRNP | c.411C>G (p.Pro137=) c.*100C>G (n.*100C>G) | |
| 20 | g.4699631C>T | CA509567710 | PRNP | c.411C>T (p.Pro137=) c.*100C>T (n.*100C>T) | gnomAD v4 |
| 20 | g.4699632A= | CA2347156535 | PRNP | c.412A= (p.Ile138=) c.*101A= (n.*101A=) | |
| 20 | g.4699632A>C | CA408152288 | PRNP | c.412A>C (p.Ile138Leu) c.*101A>C (n.*101A>C) | dbSNP |
| 20 | g.4699632A>G | CA408152289 | PRNP | c.412A>G (p.Ile138Val) c.*101A>G (n.*101A>G) | |
| 20 | g.4699632A>T | CA408152290 | PRNP | c.412A>T (p.Ile138Phe) c.*101A>T (n.*101A>T) | |
| 20 | g.4699633T>A | CA408152291 | PRNP | c.413T>A (p.Ile138Asn) c.*102T>A (n.*102T>A) | |
| 20 | g.4699633T>C | CA9752069 | PRNP | c.413T>C (p.Ile138Thr) c.*102T>C (n.*102T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699633T>G | CA408152292 | PRNP | c.413T>G (p.Ile138Ser) c.*102T>G (n.*102T>G) | |
| 20 | g.4699633T= | CA2347156536 | PRNP | c.413T= (p.Ile138=) c.*102T= (n.*102T=) | |
| 20 | g.4699634C>A | CA311093374 | PRNP | c.414C>A (p.Ile138=) c.*103C>A (n.*103C>A) | dbSNP |
| 20 | g.4699634C= | CA2347156537 | PRNP | c.414C= (p.Ile138=) c.*103C= (n.*103C=) | |
| 20 | g.4699634C>G | CA311093376 | PRNP | c.414C>G (p.Ile138Met) c.*103C>G (n.*103C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699634C>T | CA509567714 | PRNP | c.414C>T (p.Ile138=) c.*103C>T (n.*103C>T) | |
| 20 | g.4699635A= | CA2347156538 | PRNP | c.415A= (p.Ile139=) c.*104A= (n.*104A=) | |
| 20 | g.4699635A>C | CA408152293 | PRNP | c.415A>C (p.Ile139Leu) c.*104A>C (n.*104A>C) | gnomAD v4 |
| 20 | g.4699635A>G | CA408152295 | PRNP | c.415A>G (p.Ile139Val) c.*104A>G (n.*104A>G) | ClinVar dbSNP gnomAD v4 |
| 20 | g.4699635A>T | CA408152294 | PRNP | c.415A>T (p.Ile139Leu) c.*104A>T (n.*104A>T) | |
| 20 | g.4699636T>A | CA408152296 | PRNP | c.416T>A (p.Ile139Lys) c.*105T>A (n.*105T>A) | |
| 20 | g.4699636T>C | CA408152297 | PRNP | c.416T>C (p.Ile139Thr) c.*105T>C (n.*105T>C) | gnomAD v4 |
| 20 | g.4699636T>G | CA408152298 | PRNP | c.416T>G (p.Ile139Arg) c.*105T>G (n.*105T>G) | |
| 20 | g.4699637A= | CA2347156539 | PRNP | c.417A= (p.Ile139=) c.*106A= (n.*106A=) | |
| 20 | g.4699637A>C | CA509567719 | PRNP | c.417A>C (p.Ile139=) c.*106A>C (n.*106A>C) | |
| 20 | g.4699637A>G | CA408152299 | PRNP | c.417A>G (p.Ile139Met) c.*106A>G (n.*106A>G) | |
| 20 | g.4699637A>T | CA509567718 | PRNP | c.417A>T (p.Ile139=) c.*106A>T (n.*106A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699638C>A | CA408152300 | PRNP | c.418C>A (p.His140Asn) c.*107C>A (n.*107C>A) | |
| 20 | g.4699638C>G | CA408152302 | PRNP | c.418C>G (p.His140Asp) c.*107C>G (n.*107C>G) | |
| 20 | g.4699638C>T | CA408152301 | PRNP | c.418C>T (p.His140Tyr) c.*107C>T (n.*107C>T) | |
| 20 | g.4699639A= | CA2347156540 | PRNP | c.419A= (p.His140=) c.*108A= (n.*108A=) | |
| 20 | g.4699639A>C | CA408152303 | PRNP | c.419A>C (p.His140Pro) c.*108A>C (n.*108A>C) | |
| 20 | g.4699639A>G | CA311093378 | PRNP | c.419A>G (p.His140Arg) c.*108A>G (n.*108A>G) | dbSNP gnomAD v4 |
| 20 | g.4699639A>T | CA311093380 | PRNP | c.419A>T (p.His140Leu) c.*108A>T (n.*108A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699640T>A | CA408152304 | PRNP | c.420T>A (p.His140Gln) c.*109T>A (n.*109T>A) | |
| 20 | g.4699640T>C | CA509567720 | PRNP | c.420T>C (p.His140=) c.*109T>C (n.*109T>C) | |
| 20 | g.4699640T>G | CA408152305 | PRNP | c.420T>G (p.His140Gln) c.*109T>G (n.*109T>G) | |
| 20 | g.4699641T>A | CA408152306 | PRNP | c.421T>A (p.Phe141Ile) c.*110T>A (n.*110T>A) | |
| 20 | g.4699641T>C | CA408152307 | PRNP | c.421T>C (p.Phe141Leu) c.*110T>C (n.*110T>C) | |
| 20 | g.4699641T>G | CA408152308 | PRNP | c.421T>G (p.Phe141Val) c.*110T>G (n.*110T>G) | |
| 20 | g.4699642T>A | CA408152309 | PRNP | c.422T>A (p.Phe141Tyr) c.*111T>A (n.*111T>A) | |
| 20 | g.4699642T>C | CA408152310 | PRNP | c.422T>C (p.Phe141Ser) c.*111T>C (n.*111T>C) | |
| 20 | g.4699642T>G | CA408152311 | PRNP | c.422T>G (p.Phe141Cys) c.*111T>G (n.*111T>G) | |
| 20 | g.4699643C>A | CA408152312 | PRNP | c.423C>A (p.Phe141Leu) c.*112C>A (n.*112C>A) | |
| 20 | g.4699643C= | CA2347156541 | PRNP | c.423C= (p.Phe141=) c.*112C= (n.*112C=) | |
| 20 | g.4699643C>G | CA408152313 | PRNP | c.423C>G (p.Phe141Leu) c.*112C>G (n.*112C>G) | |
| 20 | g.4699643C>T | CA9752070 | PRNP | c.423C>T (p.Phe141=) c.*112C>T (n.*112C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699644G>A | CA9752071 | PRNP | c.424G>A (p.Gly142Ser) c.*113G>A (n.*113G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699644G>C | CA408152315 | PRNP | c.424G>C (p.Gly142Arg) c.*113G>C (n.*113G>C) | |
| 20 | g.4699644G= | CA2347156542 | PRNP | c.424G= (p.Gly142=) c.*113G= (n.*113G=) | |
| 20 | g.4699644G>T | CA408152314 | PRNP | c.424G>T (p.Gly142Cys) c.*113G>T (n.*113G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699645G>A | CA408152316 | PRNP | c.425G>A (p.Gly142Asp) c.*114G>A (n.*114G>A) | gnomAD v4 |
| 20 | g.4699645G>C | CA408152318 | PRNP | c.425G>C (p.Gly142Ala) c.*114G>C (n.*114G>C) | |
| 20 | g.4699645G>T | CA408152317 | PRNP | c.425G>T (p.Gly142Val) c.*114G>T (n.*114G>T) | |
| 20 | g.4699646C>A | CA509567725 | PRNP | c.426C>A (p.Gly142=) c.*115C>A (n.*115C>A) | |
| 20 | g.4699646C= | CA2347156543 | PRNP | c.426C= (p.Gly142=) c.*115C= (n.*115C=) | |
| 20 | g.4699646C>G | CA509567726 | PRNP | c.426C>G (p.Gly142=) c.*115C>G (n.*115C>G) | |
| 20 | g.4699646C>T | CA9752072 | PRNP | c.426C>T (p.Gly142=) c.*115C>T (n.*115C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699647A>C | CA408152319 | PRNP | c.427A>C (p.Ser143Arg) c.*116A>C (n.*116A>C) | gnomAD v4 |
| 20 | g.4699647A>G | CA408152320 | PRNP | c.427A>G (p.Ser143Gly) c.*116A>G (n.*116A>G) | |
| 20 | g.4699647A>T | CA408152321 | PRNP | c.427A>T (p.Ser143Cys) c.*116A>T (n.*116A>T) | |
| 20 | g.4699648del | CA2651785456 | PRNP | c.428del (p.Ser143MetfsTer?) c.*117del (n.*117del) | gnomAD v4 |
| 20 | g.4699648G>A | CA408152322 | PRNP | c.428G>A (p.Ser143Asn) c.*117G>A (n.*117G>A) | |
| 20 | g.4699648G>C | CA408152323 | PRNP | c.428G>C (p.Ser143Thr) c.*117G>C (n.*117G>C) | |
| 20 | g.4699648G>T | CA408152324 | PRNP | c.428G>T (p.Ser143Ile) c.*117G>T (n.*117G>T) | |
| 20 | g.4699649T>A | CA408152325 | PRNP | c.429T>A (p.Ser143Arg) c.*118T>A (n.*118T>A) | |
| 20 | g.4699649T>C | CA509567731 | PRNP | c.429T>C (p.Ser143=) c.*118T>C (n.*118T>C) | dbSNP gnomAD v4 |
| 20 | g.4699649T>G | CA408152326 | PRNP | c.429T>G (p.Ser143Arg) c.*118T>G (n.*118T>G) | |
| 20 | g.4699649T= | CA2347156544 | PRNP | c.429T= (p.Ser143=) c.*118T= (n.*118T=) | |
| 20 | g.4699650G>A | CA408152327 | PRNP | c.430G>A (p.Asp144Asn) c.*119G>A (n.*119G>A) | |
| 20 | g.4699650G>C | CA408152328 | PRNP | c.430G>C (p.Asp144His) c.*119G>C (n.*119G>C) | |
| 20 | g.4699650G>T | CA408152329 | PRNP | c.430G>T (p.Asp144Tyr) c.*119G>T (n.*119G>T) | |
| 20 | g.4699651A>C | CA408152332 | PRNP | c.431A>C (p.Asp144Ala) c.*120A>C (n.*120A>C) | |
| 20 | g.4699651A>G | CA408152330 | PRNP | c.431A>G (p.Asp144Gly) c.*120A>G (n.*120A>G) | |
| 20 | g.4699651A>T | CA408152331 | PRNP | c.431A>T (p.Asp144Val) c.*120A>T (n.*120A>T) | |
| 20 | g.4699652C>A | CA408152333 | PRNP | c.432C>A (p.Asp144Glu) c.*121C>A (n.*121C>A) | |
| 20 | g.4699652C= | CA2347156545 | PRNP | c.432C= (p.Asp144=) c.*121C= (n.*121C=) | |
| 20 | g.4699652C>G | CA408152334 | PRNP | c.432C>G (p.Asp144Glu) c.*121C>G (n.*121C>G) | ClinVar dbSNP gnomAD v4 |
| 20 | g.4699652C>T | CA509567737 | PRNP | c.432C>T (p.Asp144=) c.*121C>T (n.*121C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699653T>A | CA408152335 | PRNP | c.433T>A (p.Tyr145Asn) c.*122T>A (n.*122T>A) | |
| 20 | g.4699653T>C | CA408152336 | PRNP | c.433T>C (p.Tyr145His) c.*122T>C (n.*122T>C) | |
| 20 | g.4699653T>G | CA9752073 | PRNP | c.433T>G (p.Tyr145Asp) c.*122T>G (n.*122T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699653T= | CA2347156546 | PRNP | c.433T= (p.Tyr145=) c.*122T= (n.*122T=) | |
| 20 | g.4699654A>C | CA408152337 | PRNP | c.434A>C (p.Tyr145Ser) c.*123A>C (n.*123A>C) | |
| 20 | g.4699654A>G | CA408152338 | PRNP | c.434A>G (p.Tyr145Cys) c.*123A>G (n.*123A>G) | COSMIC |
| 20 | g.4699654A>T | CA408152339 | PRNP | c.434A>T (p.Tyr145Phe) c.*123A>T (n.*123A>T) | |
| 20 | g.4699655T>A | CA408152340 | PRNP | c.435T>A (p.Tyr145Ter) c.*124T>A (n.*124T>A) | |
| 20 | g.4699655T>C | CA509567743 | PRNP | c.435T>C (p.Tyr145=) c.*124T>C (n.*124T>C) | |
| 20 | g.4699655T>G | CA145403 | PRNP | c.435T>G (p.Tyr145Ter) c.*124T>G (n.*124T>G) | ClinVar dbSNP |
| 20 | g.4699655T= | CA2347156547 | PRNP | c.435T= (p.Tyr145=) c.*124T= (n.*124T=) | |
| 20 | g.4699656G>A | CA408152343 | PRNP | c.436G>A (p.Glu146Lys) c.*125G>A (n.*125G>A) | gnomAD v4 |
| 20 | g.4699656G>C | CA408152342 | PRNP | c.436G>C (p.Glu146Gln) c.*125G>C (n.*125G>C) | |
| 20 | g.4699656G>T | CA408152341 | PRNP | c.436G>T (p.Glu146Ter) c.*125G>T (n.*125G>T) | |
| 20 | g.4699657A>C | CA408152344 | PRNP | c.437A>C (p.Glu146Ala) c.*126A>C (n.*126A>C) | |
| 20 | g.4699657A>G | CA408152345 | PRNP | c.437A>G (p.Glu146Gly) c.*126A>G (n.*126A>G) | |
| 20 | g.4699657A>T | CA408152346 | PRNP | c.437A>T (p.Glu146Val) c.*126A>T (n.*126A>T) | |
| 20 | g.4699658G>A | CA509567751 | PRNP | c.438G>A (p.Glu146=) c.*127G>A (n.*127G>A) | |
| 20 | g.4699658G>C | CA408152347 | PRNP | c.438G>C (p.Glu146Asp) c.*127G>C (n.*127G>C) | |
| 20 | g.4699658G>T | CA408152348 | PRNP | c.438G>T (p.Glu146Asp) c.*127G>T (n.*127G>T) | |
| 20 | g.4699659G>A | CA408152349 | PRNP | c.439G>A (p.Asp147Asn) c.*128G>A (n.*128G>A) | |
| 20 | g.4699659G>C | CA408152350 | PRNP | c.439G>C (p.Asp147His) c.*128G>C (n.*128G>C) | |
| 20 | g.4699659G>T | CA408152351 | PRNP | c.439G>T (p.Asp147Tyr) c.*128G>T (n.*128G>T) | |
| 20 | g.4699660A>C | CA408152352 | PRNP | c.440A>C (p.Asp147Ala) c.*129A>C (n.*129A>C) | |
| 20 | g.4699660A>G | CA408152353 | PRNP | c.440A>G (p.Asp147Gly) c.*129A>G (n.*129A>G) | |
| 20 | g.4699660A>T | CA408152354 | PRNP | c.440A>T (p.Asp147Val) c.*129A>T (n.*129A>T) | |
| 20 | g.4699661C>A | CA408152355 | PRNP | c.441C>A (p.Asp147Glu) c.*130C>A (n.*130C>A) | |
| 20 | g.4699661C= | CA2347156548 | PRNP | c.441C= (p.Asp147=) c.*130C= (n.*130C=) | |
| 20 | g.4699661C>G | CA408152356 | PRNP | c.441C>G (p.Asp147Glu) c.*130C>G (n.*130C>G) | |
| 20 | g.4699661C>T | CA509567758 | PRNP | c.441C>T (p.Asp147=) c.*130C>T (n.*130C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699662C>A | CA408152358 | PRNP | c.442C>A (p.Arg148Ser) c.*131C>A (n.*131C>A) | |
| 20 | g.4699662C= | CA2347156549 | PRNP | c.442C= (p.Arg148=) c.*131C= (n.*131C=) | |
| 20 | g.4699662C>G | CA408152357 | PRNP | c.442C>G (p.Arg148Gly) c.*131C>G (n.*131C>G) | |
| 20 | g.4699662C>T | CA9752074 | PRNP | c.442C>T (p.Arg148Cys) c.*131C>T (n.*131C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.4699663G>A | CA9752075 | PRNP | c.443G>A (p.Arg148His) c.*132G>A (n.*132G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699663G>C | CA408152359 | PRNP | c.443G>C (p.Arg148Pro) c.*132G>C (n.*132G>C) | gnomAD v4 |
| 20 | g.4699663G= | CA2347156550 | PRNP | c.443G= (p.Arg148=) c.*132G= (n.*132G=) | |
| 20 | g.4699663G>T | CA408152360 | PRNP | c.443G>T (p.Arg148Leu) c.*132G>T (n.*132G>T) | |
| 20 | g.4699664T>A | CA509567767 | PRNP | c.444T>A (p.Arg148=) c.*133T>A (n.*133T>A) | |
| 20 | g.4699664T>C | CA509567769 | PRNP | c.444T>C (p.Arg148=) c.*133T>C (n.*133T>C) | |
| 20 | g.4699664T>G | CA509567770 | PRNP | c.444T>G (p.Arg148=) c.*133T>G (n.*133T>G) | |
| 20 | g.4699665T>A | CA408152361 | PRNP | c.445T>A (p.Tyr149Asn) c.*134T>A (n.*134T>A) | |
| 20 | g.4699665T>C | CA9752076 | PRNP | c.445T>C (p.Tyr149His) c.*134T>C (n.*134T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699665T>G | CA408152362 | PRNP | c.445T>G (p.Tyr149Asp) c.*134T>G (n.*134T>G) | |
| 20 | g.4699665T= | CA2347156551 | PRNP | c.445T= (p.Tyr149=) c.*134T= (n.*134T=) | |
| 20 | g.4699666A>C | CA408152363 | PRNP | c.446A>C (p.Tyr149Ser) c.*135A>C (n.*135A>C) | |
| 20 | g.4699666A>G | CA408152364 | PRNP | c.446A>G (p.Tyr149Cys) c.*135A>G (n.*135A>G) | |
| 20 | g.4699666A>T | CA408152365 | PRNP | c.446A>T (p.Tyr149Phe) c.*135A>T (n.*135A>T) | |
| 20 | g.4699666dup | CA2580098148 | PRNP | c.446dup (p.Tyr149Ter) c.*135dup (n.*135dup) | ClinVar |
| 20 | g.4699667C>A | CA408152366 | PRNP | c.447C>A (p.Tyr149Ter) c.*136C>A (n.*136C>A) | |
| 20 | g.4699667C>G | CA408152367 | PRNP | c.447C>G (p.Tyr149Ter) c.*136C>G (n.*136C>G) | |
| 20 | g.4699667C>T | CA509567779 | PRNP | c.447C>T (p.Tyr149=) c.*136C>T (n.*136C>T) | gnomAD v4 |
| 20 | g.4699668T>A | CA408152370 | PRNP | c.448T>A (p.Tyr150Asn) c.*137T>A (n.*137T>A) | |
| 20 | g.4699668T>C | CA408152369 | PRNP | c.448T>C (p.Tyr150His) c.*137T>C (n.*137T>C) | dbSNP gnomAD v2 |
| 20 | g.4699668T>G | CA408152368 | PRNP | c.448T>G (p.Tyr150Asp) c.*137T>G (n.*137T>G) | |
| 20 | g.4699668T= | CA2347156552 | PRNP | c.448T= (p.Tyr150=) c.*137T= (n.*137T=) | |
| 20 | g.4699669A>C | CA408152371 | PRNP | c.449A>C (p.Tyr150Ser) c.*138A>C (n.*138A>C) | |
| 20 | g.4699669A>G | CA408152373 | PRNP | c.449A>G (p.Tyr150Cys) c.*138A>G (n.*138A>G) | gnomAD v4 |
| 20 | g.4699669A>T | CA408152372 | PRNP | c.449A>T (p.Tyr150Phe) c.*138A>T (n.*138A>T) | |
| 20 | g.4699670T>A | CA408152374 | PRNP | c.450T>A (p.Tyr150Ter) c.*139T>A (n.*139T>A) | |
| 20 | g.4699670T>C | CA9752077 | PRNP | c.450T>C (p.Tyr150=) c.*139T>C (n.*139T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699670T>G | CA408152375 | PRNP | c.450T>G (p.Tyr150Ter) c.*139T>G (n.*139T>G) | |
| 20 | g.4699670T= | CA2347156553 | PRNP | c.450T= (p.Tyr150=) c.*139T= (n.*139T=) | |
| 20 | g.4699671C>A | CA408152376 | PRNP | c.451C>A (p.Arg151Ser) c.*140C>A (n.*140C>A) | |
| 20 | g.4699671C= | CA2347156554 | PRNP | c.451C= (p.Arg151=) c.*140C= (n.*140C=) | |
| 20 | g.4699671C>G | CA408152377 | PRNP | c.451C>G (p.Arg151Gly) c.*140C>G (n.*140C>G) | |
| 20 | g.4699671C>T | CA9752078 | PRNP | c.451C>T (p.Arg151Cys) c.*140C>T (n.*140C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.4699672G>A | CA9752079 | PRNP | c.452G>A (p.Arg151His) c.*141G>A (n.*141G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.4699672G>C | CA408152378 | PRNP | c.452G>C (p.Arg151Pro) c.*141G>C (n.*141G>C) | |
| 20 | g.4699672G= | CA2347156555 | PRNP | c.452G= (p.Arg151=) c.*141G= (n.*141G=) | |
| 20 | g.4699672G>T | CA408152379 | PRNP | c.452G>T (p.Arg151Leu) c.*141G>T (n.*141G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699673T>A | CA509567793 | PRNP | c.453T>A (p.Arg151=) c.*142T>A (n.*142T>A) | |
| 20 | g.4699673T>C | CA509567794 | PRNP | c.453T>C (p.Arg151=) c.*142T>C (n.*142T>C) | gnomAD v4 |
| 20 | g.4699673T>G | CA509567797 | PRNP | c.453T>G (p.Arg151=) c.*142T>G (n.*142T>G) | |
| 20 | g.4699674G>A | CA408152380 | PRNP | c.454G>A (p.Glu152Lys) c.*143G>A (n.*143G>A) | |
| 20 | g.4699674G>C | CA408152381 | PRNP | c.454G>C (p.Glu152Gln) c.*143G>C (n.*143G>C) | |
| 20 | g.4699674G>T | CA408152382 | PRNP | c.454G>T (p.Glu152Ter) c.*143G>T (n.*143G>T) | |
| 20 | g.4699675A>C | CA408152383 | PRNP | c.455A>C (p.Glu152Ala) c.*144A>C (n.*144A>C) | |
| 20 | g.4699675A>G | CA408152385 | PRNP | c.455A>G (p.Glu152Gly) c.*144A>G (n.*144A>G) | |
| 20 | g.4699675A>T | CA408152384 | PRNP | c.455A>T (p.Glu152Val) c.*144A>T (n.*144A>T) | |
| 20 | g.4699676A>C | CA408152386 | PRNP | c.456A>C (p.Glu152Asp) c.*145A>C (n.*145A>C) | |
| 20 | g.4699676A>G | CA509567804 | PRNP | c.456A>G (p.Glu152=) c.*145A>G (n.*145A>G) | |
| 20 | g.4699676A>T | CA408152387 | PRNP | c.456A>T (p.Glu152Asp) c.*145A>T (n.*145A>T) | |
| 20 | g.4699677A>C | CA408152388 | PRNP | c.457A>C (p.Asn153His) c.*146A>C (n.*146A>C) | |
| 20 | g.4699677A>G | CA408152389 | PRNP | c.457A>G (p.Asn153Asp) c.*146A>G (n.*146A>G) | |
| 20 | g.4699677A>T | CA408152390 | PRNP | c.457A>T (p.Asn153Tyr) c.*146A>T (n.*146A>T) | |
| 20 | g.4699678A= | CA2347156556 | PRNP | c.458A= (p.Asn153=) c.*147A= (n.*147A=) | |
| 20 | g.4699678A>C | CA408152391 | PRNP | c.458A>C (p.Asn153Thr) c.*147A>C (n.*147A>C) | |
| 20 | g.4699678A>G | CA9752080 | PRNP | c.458A>G (p.Asn153Ser) c.*147A>G (n.*147A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 20 | g.4699678A>T | CA408152392 | PRNP | c.458A>T (p.Asn153Ile) c.*147A>T (n.*147A>T) | |
| 20 | g.4699679C>A | CA408152393 | PRNP | c.459C>A (p.Asn153Lys) c.*148C>A (n.*148C>A) | |
| 20 | g.4699679C>G | CA408152394 | PRNP | c.459C>G (p.Asn153Lys) c.*148C>G (n.*148C>G) | |
| 20 | g.4699679C>T | CA509567816 | PRNP | c.459C>T (p.Asn153=) c.*148C>T (n.*148C>T) | |
| 20 | g.4699680A= | CA2347156557 | PRNP | c.460A= (p.Met154=) c.*149A= (n.*149A=) | |
| 20 | g.4699680A>C | CA408152396 | PRNP | c.460A>C (p.Met154Leu) c.*149A>C (n.*149A>C) | |
| 20 | g.4699680A>G | CA408152397 | PRNP | c.460A>G (p.Met154Val) c.*149A>G (n.*149A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699680A>T | CA408152395 | PRNP | c.460A>T (p.Met154Leu) c.*149A>T (n.*149A>T) | |
| 20 | g.4699681T>A | CA408152398 | PRNP | c.461T>A (p.Met154Lys) c.*150T>A (n.*150T>A) | |
| 20 | g.4699681T>C | CA408152399 | PRNP | c.461T>C (p.Met154Thr) c.*150T>C (n.*150T>C) | |
| 20 | g.4699681T>G | CA408152400 | PRNP | c.461T>G (p.Met154Arg) c.*150T>G (n.*150T>G) | |
| 20 | g.4699682G>A | CA9752081 | PRNP | c.462G>A (p.Met154Ile) c.*151G>A (n.*151G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699682G>C | CA408152401 | PRNP | c.462G>C (p.Met154Ile) c.*151G>C (n.*151G>C) | |
| 20 | g.4699682G= | CA2347156558 | PRNP | c.462G= (p.Met154=) c.*151G= (n.*151G=) | |
| 20 | g.4699682G>T | CA408152402 | PRNP | c.462G>T (p.Met154Ile) c.*151G>T (n.*151G>T) | |
| 20 | g.4699683_4699687del | CA2651785457 | PRNP | c.463_467del (p.His155LeufsTer12) c.*152_*156del (n.*152_*156del) | gnomAD v4 |
| 20 | g.4699683C>A | CA408152405 | PRNP | c.463C>A (p.His155Asn) c.*152C>A (n.*152C>A) | |
| 20 | g.4699683C>G | CA408152403 | PRNP | c.463C>G (p.His155Asp) c.*152C>G (n.*152C>G) | |
| 20 | g.4699683C>T | CA408152404 | PRNP | c.463C>T (p.His155Tyr) c.*152C>T (n.*152C>T) | |
| 20 | g.4699684A= | CA2347156559 | PRNP | c.464A= (p.His155=) c.*153A= (n.*153A=) | |
| 20 | g.4699684A>C | CA408152406 | PRNP | c.464A>C (p.His155Pro) c.*153A>C (n.*153A>C) | |
| 20 | g.4699684A>G | CA408152407 | PRNP | c.464A>G (p.His155Arg) c.*153A>G (n.*153A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699684A>T | CA408152408 | PRNP | c.464A>T (p.His155Leu) c.*153A>T (n.*153A>T) | |
| 20 | g.4699685C>A | CA408152409 | PRNP | c.465C>A (p.His155Gln) c.*154C>A (n.*154C>A) | |
| 20 | g.4699685C= | CA2347156560 | PRNP | c.465C= (p.His155=) c.*154C= (n.*154C=) | |
| 20 | g.4699685C>G | CA408152410 | PRNP | c.465C>G (p.His155Gln) c.*154C>G (n.*154C>G) | |
| 20 | g.4699685C>T | CA509567371 | PRNP | c.465C>T (p.His155=) c.*154C>T (n.*154C>T) | dbSNP gnomAD v4 COSMIC |
| 20 | g.4699686C>A | CA408152411 | PRNP | c.466C>A (p.Arg156Ser) c.*155C>A (n.*155C>A) | |
| 20 | g.4699686C= | CA2347156561 | PRNP | c.466C= (p.Arg156=) c.*155C= (n.*155C=) | |
| 20 | g.4699686C>G | CA408152413 | PRNP | c.466C>G (p.Arg156Gly) c.*155C>G (n.*155C>G) | |
| 20 | g.4699686C>T | CA408152412 | PRNP | c.466C>T (p.Arg156Cys) c.*155C>T (n.*155C>T) | dbSNP gnomAD v4 |
| 20 | g.4699687G>A | CA408152414 | PRNP | c.467G>A (p.Arg156His) c.*156G>A (n.*156G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699687G>C | CA408152415 | PRNP | c.467G>C (p.Arg156Pro) c.*156G>C (n.*156G>C) | |
| 20 | g.4699687G= | CA2347156562 | PRNP | c.467G= (p.Arg156=) c.*156G= (n.*156G=) | |
| 20 | g.4699687G>T | CA408152416 | PRNP | c.467G>T (p.Arg156Leu) c.*156G>T (n.*156G>T) | |
| 20 | g.4699688T>A | CA509567375 | PRNP | c.468T>A (p.Arg156=) c.*157T>A (n.*157T>A) | |
| 20 | g.4699688T>C | CA509567379 | PRNP | c.468T>C (p.Arg156=) c.*157T>C (n.*157T>C) | |
| 20 | g.4699688T>G | CA509567378 | PRNP | c.468T>G (p.Arg156=) c.*157T>G (n.*157T>G) | |
| 20 | g.4699689T>A | CA408152417 | PRNP | c.469T>A (p.Tyr157Asn) c.*158T>A (n.*158T>A) | |
| 20 | g.4699689T>C | CA408152418 | PRNP | c.469T>C (p.Tyr157His) c.*158T>C (n.*158T>C) | dbSNP |
| 20 | g.4699689T>G | CA408152419 | PRNP | c.469T>G (p.Tyr157Asp) c.*158T>G (n.*158T>G) | |
| 20 | g.4699689T= | CA2347156563 | PRNP | c.469T= (p.Tyr157=) c.*158T= (n.*158T=) | |
| 20 | g.4699690A>C | CA408152420 | PRNP | c.470A>C (p.Tyr157Ser) c.*159A>C (n.*159A>C) | |
| 20 | g.4699690A>G | CA408152421 | PRNP | c.470A>G (p.Tyr157Cys) c.*159A>G (n.*159A>G) | |
| 20 | g.4699690A>T | CA408152422 | PRNP | c.470A>T (p.Tyr157Phe) c.*159A>T (n.*159A>T) | |
| 20 | g.4699690dup | CA2651785458 | PRNP | c.470dup (p.Tyr157Ter) c.*159dup (n.*159dup) | gnomAD v4 |
| 20 | g.4699691C>A | CA408152423 | PRNP | c.471C>A (p.Tyr157Ter) c.*160C>A (n.*160C>A) | |
| 20 | g.4699691C= | CA2347156564 | PRNP | c.471C= (p.Tyr157=) c.*160C= (n.*160C=) | |
| 20 | g.4699691C>G | CA408152424 | PRNP | c.471C>G (p.Tyr157Ter) c.*160C>G (n.*160C>G) | |
| 20 | g.4699691C>T | CA509567385 | PRNP | c.471C>T (p.Tyr157=) c.*160C>T (n.*160C>T) | dbSNP |
| 20 | g.4699694dup | CA2651785459 | PRNP | c.474dup (p.Asn159GlnfsTer10) c.*163dup (n.*163dup) | gnomAD v4 |
| 20 | g.4699692C>A | CA408152425 | PRNP | c.472C>A (p.Pro158Thr) c.*161C>A (n.*161C>A) | |
| 20 | g.4699692C>G | CA408152427 | PRNP | c.472C>G (p.Pro158Ala) c.*161C>G (n.*161C>G) | |
| 20 | g.4699692C>T | CA408152426 | PRNP | c.472C>T (p.Pro158Ser) c.*161C>T (n.*161C>T) | |
| 20 | g.4699693C>A | CA408152428 | PRNP | c.473C>A (p.Pro158His) c.*162C>A (n.*162C>A) | |
| 20 | g.4699693C>G | CA408152430 | PRNP | c.473C>G (p.Pro158Arg) c.*162C>G (n.*162C>G) | |
| 20 | g.4699693C>T | CA408152429 | PRNP | c.473C>T (p.Pro158Leu) c.*162C>T (n.*162C>T) | ClinVar gnomAD v4 COSMIC |
| 20 | g.4699694C>A | CA509567386 | PRNP | c.474C>A (p.Pro158=) c.*163C>A (n.*163C>A) | |
| 20 | g.4699694C>G | CA509567388 | PRNP | c.474C>G (p.Pro158=) c.*163C>G (n.*163C>G) | |
| 20 | g.4699694C>T | CA509567392 | PRNP | c.474C>T (p.Pro158=) c.*163C>T (n.*163C>T) | |
| 20 | g.4699695A>C | CA408152431 | PRNP | c.475A>C (p.Asn159His) c.*164A>C (n.*164A>C) | |
| 20 | g.4699695A>G | CA408152433 | PRNP | c.475A>G (p.Asn159Asp) c.*164A>G (n.*164A>G) | |
| 20 | g.4699695A>T | CA408152432 | PRNP | c.475A>T (p.Asn159Tyr) c.*164A>T (n.*164A>T) | |
| 20 | g.4699696A= | CA2347156565 | PRNP | c.476A= (p.Asn159=) c.*165A= (n.*165A=) | |
| 20 | g.4699696A>C | CA408152434 | PRNP | c.476A>C (p.Asn159Thr) c.*165A>C (n.*165A>C) | |
| 20 | g.4699696A>G | CA9752082 | PRNP | c.476A>G (p.Asn159Ser) c.*165A>G (n.*165A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699696A>T | CA408152435 | PRNP | c.476A>T (p.Asn159Ile) c.*165A>T (n.*165A>T) | |
| 20 | g.4699697C>A | CA408152436 | PRNP | c.477C>A (p.Asn159Lys) c.*166C>A (n.*166C>A) | |
| 20 | g.4699697C>G | CA408152437 | PRNP | c.477C>G (p.Asn159Lys) c.*166C>G (n.*166C>G) | |
| 20 | g.4699697C>T | CA509567397 | PRNP | c.477C>T (p.Asn159=) c.*166C>T (n.*166C>T) | |
| 20 | g.4699698C>A | CA408152438 | PRNP | c.478C>A (p.Gln160Lys) c.*167C>A (n.*167C>A) | |
| 20 | g.4699698C= | CA2347156566 | PRNP | c.478C= (p.Gln160=) c.*167C= (n.*167C=) | |
| 20 | g.4699698C>G | CA408152439 | PRNP | c.478C>G (p.Gln160Glu) c.*167C>G (n.*167C>G) | |
| 20 | g.4699698C>T | CA145405 | PRNP | c.478C>T (p.Gln160Ter) c.*167C>T (n.*167C>T) | ClinVar dbSNP |
| 20 | g.4699699A>C | CA408152440 | PRNP | c.479A>C (p.Gln160Pro) c.*168A>C (n.*168A>C) | |
| 20 | g.4699699A>G | CA408152441 | PRNP | c.479A>G (p.Gln160Arg) c.*168A>G (n.*168A>G) | |
| 20 | g.4699699A>T | CA408152442 | PRNP | c.479A>T (p.Gln160Leu) c.*168A>T (n.*168A>T) | |
| 20 | g.4699700_4699708dup | CA2695229270 | PRNP | c.480_488dup (p.Tyr163Ter) c.*169_*177dup (n.*169_*177dup) | |
| 20 | g.4699700A= | CA2347156567 | PRNP | c.480A= (p.Gln160=) c.*169A= (n.*169A=) | |
| 20 | g.4699700A>C | CA408152443 | PRNP | c.480A>C (p.Gln160His) c.*169A>C (n.*169A>C) | |
| 20 | g.4699700A>G | CA509567404 | PRNP | c.480A>G (p.Gln160=) c.*169A>G (n.*169A>G) | ClinVar dbSNP |
| 20 | g.4699700A>T | CA408152444 | PRNP | c.480A>T (p.Gln160His) c.*169A>T (n.*169A>T) | |
| 20 | g.4699701G>A | CA408152445 | PRNP | c.481G>A (p.Val161Met) c.*170G>A (n.*170G>A) | |
| 20 | g.4699701G>C | CA408152447 | PRNP | c.481G>C (p.Val161Leu) c.*170G>C (n.*170G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699701G= | CA2347156568 | PRNP | c.481G= (p.Val161=) c.*170G= (n.*170G=) | |
| 20 | g.4699701G>T | CA408152446 | PRNP | c.481G>T (p.Val161Leu) c.*170G>T (n.*170G>T) | |
| 20 | g.4699702T>A | CA408152448 | PRNP | c.482T>A (p.Val161Glu) c.*171T>A (n.*171T>A) | |
| 20 | g.4699702T>C | CA408152449 | PRNP | c.482T>C (p.Val161Ala) c.*171T>C (n.*171T>C) | |
| 20 | g.4699702T>G | CA408152450 | PRNP | c.482T>G (p.Val161Gly) c.*171T>G (n.*171T>G) | |
| 20 | g.4699703G>A | CA9752083 | PRNP | c.483G>A (p.Val161=) c.*172G>A (n.*172G>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 20 | g.4699703G>C | CA509567414 | PRNP | c.483G>C (p.Val161=) c.*172G>C (n.*172G>C) | |
| 20 | g.4699703G= | CA2347156569 | PRNP | c.483G= (p.Val161=) c.*172G= (n.*172G=) | |
| 20 | g.4699703G>T | CA509567413 | PRNP | c.483G>T (p.Val161=) c.*172G>T (n.*172G>T) | |
| 20 | g.4699704T>A | CA408152451 | PRNP | c.484T>A (p.Tyr162Asn) c.*173T>A (n.*173T>A) | |
| 20 | g.4699704T>C | CA408152452 | PRNP | c.484T>C (p.Tyr162His) c.*173T>C (n.*173T>C) | |
| 20 | g.4699704T>G | CA408152453 | PRNP | c.484T>G (p.Tyr162Asp) c.*173T>G (n.*173T>G) | |
| 20 | g.4699705A>C | CA408152454 | PRNP | c.485A>C (p.Tyr162Ser) c.*174A>C (n.*174A>C) | |
| 20 | g.4699705A>G | CA408152455 | PRNP | c.485A>G (p.Tyr162Cys) c.*174A>G (n.*174A>G) | |
| 20 | g.4699705A>T | CA408152456 | PRNP | c.485A>T (p.Tyr162Phe) c.*174A>T (n.*174A>T) | |
| 20 | g.4699706C>A | CA408152457 | PRNP | c.486C>A (p.Tyr162Ter) c.*175C>A (n.*175C>A) | |
| 20 | g.4699706C= | CA2347156570 | PRNP | c.486C= (p.Tyr162=) c.*175C= (n.*175C=) | |
| 20 | g.4699706C>G | CA408152458 | PRNP | c.486C>G (p.Tyr162Ter) c.*175C>G (n.*175C>G) | |
| 20 | g.4699706C>T | CA509567418 | PRNP | c.486C>T (p.Tyr162=) c.*175C>T (n.*175C>T) | dbSNP |