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.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 |
| 20 | g.4699707T>A | CA311093410 | PRNP | c.487T>A (p.Tyr163Asn) c.*176T>A (n.*176T>A) | dbSNP |
| 20 | g.4699707T>C | CA408152459 | PRNP | c.487T>C (p.Tyr163His) c.*176T>C (n.*176T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699707T>G | CA408152460 | PRNP | c.487T>G (p.Tyr163Asp) c.*176T>G (n.*176T>G) | |
| 20 | g.4699707T= | CA2347156571 | PRNP | c.487T= (p.Tyr163=) c.*176T= (n.*176T=) | |
| 20 | g.4699708A>C | CA408152461 | PRNP | c.488A>C (p.Tyr163Ser) c.*177A>C (n.*177A>C) | |
| 20 | g.4699708A>G | CA408152462 | PRNP | c.488A>G (p.Tyr163Cys) c.*177A>G (n.*177A>G) | |
| 20 | g.4699708A>T | CA408152463 | PRNP | c.488A>T (p.Tyr163Phe) c.*177A>T (n.*177A>T) | |
| 20 | g.4699709C>A | CA408152464 | PRNP | c.489C>A (p.Tyr163Ter) c.*178C>A (n.*178C>A) | |
| 20 | g.4699709C= | CA2347156572 | PRNP | c.489C= (p.Tyr163=) c.*178C= (n.*178C=) | |
| 20 | g.4699709C>G | CA408152465 | PRNP | c.489C>G (p.Tyr163Ter) c.*178C>G (n.*178C>G) | ClinVar dbSNP |
| 20 | g.4699709C>T | CA509567425 | PRNP | c.489C>T (p.Tyr163=) c.*178C>T (n.*178C>T) | |
| 20 | g.4699710A>C | CA509567426 | PRNP | c.490A>C (p.Arg164=) c.*179A>C (n.*179A>C) | |
| 20 | g.4699710A>G | CA408152466 | PRNP | c.490A>G (p.Arg164Gly) c.*179A>G (n.*179A>G) | |
| 20 | g.4699710A>T | CA408152467 | PRNP | c.490A>T (p.Arg164Trp) c.*179A>T (n.*179A>T) | |
| 20 | g.4699711G>A | CA408152468 | PRNP | c.491G>A (p.Arg164Lys) c.*180G>A (n.*180G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699711G>C | CA408152469 | PRNP | c.491G>C (p.Arg164Thr) c.*180G>C (n.*180G>C) | gnomAD v4 |
| 20 | g.4699711G= | CA2347156573 | PRNP | c.491G= (p.Arg164=) c.*180G= (n.*180G=) | |
| 20 | g.4699711G>T | CA408152470 | PRNP | c.491G>T (p.Arg164Met) c.*180G>T (n.*180G>T) | |
| 20 | g.4699712G>A | CA509567431 | PRNP | c.492G>A (p.Arg164=) c.*181G>A (n.*181G>A) | |
| 20 | g.4699712G>C | CA408152472 | PRNP | c.492G>C (p.Arg164Ser) c.*181G>C (n.*181G>C) | |
| 20 | g.4699712G>T | CA408152471 | PRNP | c.492G>T (p.Arg164Ser) c.*181G>T (n.*181G>T) | |
| 20 | g.4699713C>A | CA408152473 | PRNP | c.493C>A (p.Pro165Thr) c.*182C>A (n.*182C>A) | gnomAD v4 |
| 20 | g.4699713C= | CA2347156574 | PRNP | c.493C= (p.Pro165=) c.*182C= (n.*182C=) | |
| 20 | g.4699713C>G | CA408152474 | PRNP | c.493C>G (p.Pro165Ala) c.*182C>G (n.*182C>G) | gnomAD v4 |
| 20 | g.4699713C>T | CA9752084 | PRNP | c.493C>T (p.Pro165Ser) c.*182C>T (n.*182C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699714C>A | CA408152475 | PRNP | c.494C>A (p.Pro165His) c.*183C>A (n.*183C>A) | gnomAD v4 |
| 20 | g.4699714C= | CA2347156575 | PRNP | c.494C= (p.Pro165=) c.*183C= (n.*183C=) | |
| 20 | g.4699714C>G | CA408152476 | PRNP | c.494C>G (p.Pro165Arg) c.*183C>G (n.*183C>G) | |
| 20 | g.4699714C>T | CA311093415 | PRNP | c.494C>T (p.Pro165Leu) c.*183C>T (n.*183C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699715C>A | CA509567435 | PRNP | c.495C>A (p.Pro165=) c.*184C>A (n.*184C>A) | |
| 20 | g.4699715C>G | CA311093417 | PRNP | c.495C>G (p.Pro165=) c.*184C>G (n.*184C>G) | dbSNP |
| 20 | g.4699715C>T | CA509567440 | PRNP | c.495C>T (p.Pro165=) c.*184C>T (n.*184C>T) | |
| 20 | g.4699716A= | CA2347156576 | PRNP | c.496A= (p.Met166=) c.*185A= (n.*185A=) | |
| 20 | g.4699716A>C | CA408152477 | PRNP | c.496A>C (p.Met166Leu) c.*185A>C (n.*185A>C) | |
| 20 | g.4699716A>G | CA9752085 | PRNP | c.496A>G (p.Met166Val) c.*185A>G (n.*185A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699716A>T | CA408152478 | PRNP | c.496A>T (p.Met166Leu) c.*185A>T (n.*185A>T) | |
| 20 | g.4699717T>A | CA408152479 | PRNP | c.497T>A (p.Met166Lys) c.*186T>A (n.*186T>A) | |
| 20 | g.4699717T>C | CA408152480 | PRNP | c.497T>C (p.Met166Thr) c.*186T>C (n.*186T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699717T>G | CA408152481 | PRNP | c.497T>G (p.Met166Arg) c.*186T>G (n.*186T>G) | |
| 20 | g.4699717T= | CA2347156577 | PRNP | c.497T= (p.Met166=) c.*186T= (n.*186T=) | |
| 20 | g.4699718G>A | CA9752086 | PRNP | c.498G>A (p.Met166Ile) c.*187G>A (n.*187G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699718G>C | CA408152483 | PRNP | c.498G>C (p.Met166Ile) c.*187G>C (n.*187G>C) | |
| 20 | g.4699718G= | CA2347156578 | PRNP | c.498G= (p.Met166=) c.*187G= (n.*187G=) | |
| 20 | g.4699718G>T | CA408152482 | PRNP | c.498G>T (p.Met166Ile) c.*187G>T (n.*187G>T) | |
| 20 | g.4699719G>A | CA408152485 | PRNP | c.499G>A (p.Asp167Asn) c.*188G>A (n.*188G>A) | dbSNP gnomAD v4 COSMIC |
| 20 | g.4699719G>C | CA408152484 | PRNP | c.499G>C (p.Asp167His) c.*188G>C (n.*188G>C) | |
| 20 | g.4699719G= | CA2347156579 | PRNP | c.499G= (p.Asp167=) c.*188G= (n.*188G=) | |
| 20 | g.4699719G>T | CA408152486 | PRNP | c.499G>T (p.Asp167Tyr) c.*188G>T (n.*188G>T) | |
| 20 | g.4699720A= | CA2347156580 | PRNP | c.500A= (p.Asp167=) c.*189A= (n.*189A=) | |
| 20 | g.4699720A>C | CA408152487 | PRNP | c.500A>C (p.Asp167Ala) c.*189A>C (n.*189A>C) | |
| 20 | g.4699720A>G | CA408152488 | PRNP | c.500A>G (p.Asp167Gly) c.*189A>G (n.*189A>G) | dbSNP gnomAD v4 |
| 20 | g.4699720A>T | CA408152489 | PRNP | c.500A>T (p.Asp167Val) c.*189A>T (n.*189A>T) | |
| 20 | g.4699721T>A | CA408152490 | PRNP | c.501T>A (p.Asp167Glu) c.*190T>A (n.*190T>A) | |
| 20 | g.4699721T>C | CA509567443 | PRNP | c.501T>C (p.Asp167=) c.*190T>C (n.*190T>C) | |
| 20 | g.4699721T>G | CA408152491 | PRNP | c.501T>G (p.Asp167Glu) c.*190T>G (n.*190T>G) | |
| 20 | g.4699722G>A | CA408152492 | PRNP | c.502G>A (p.Glu168Lys) c.*191G>A (n.*191G>A) | |
| 20 | g.4699722G>C | CA408152493 | PRNP | c.502G>C (p.Glu168Gln) c.*191G>C (n.*191G>C) | dbSNP |
| 20 | g.4699722G>T | CA408152494 | PRNP | c.502G>T (p.Glu168Ter) c.*191G>T (n.*191G>T) | |
| 20 | g.4699723A>C | CA408152495 | PRNP | c.503A>C (p.Glu168Ala) c.*192A>C (n.*192A>C) | |
| 20 | g.4699723A>G | CA408152496 | PRNP | c.503A>G (p.Glu168Gly) c.*192A>G (n.*192A>G) | |
| 20 | g.4699723A>T | CA408152497 | PRNP | c.503A>T (p.Glu168Val) c.*192A>T (n.*192A>T) | |
| 20 | g.4699724G>A | CA509567444 | PRNP | c.504G>A (p.Glu168=) c.*193G>A (n.*193G>A) | |
| 20 | g.4699724G>C | CA408152498 | PRNP | c.504G>C (p.Glu168Asp) c.*193G>C (n.*193G>C) | dbSNP gnomAD v4 |
| 20 | g.4699724G= | CA2347156581 | PRNP | c.504G= (p.Glu168=) c.*193G= (n.*193G=) | |
| 20 | g.4699724G>T | CA408152499 | PRNP | c.504G>T (p.Glu168Asp) c.*193G>T (n.*193G>T) | |
| 20 | g.4699725T>A | CA408152501 | PRNP | c.505T>A (p.Tyr169Asn) c.*194T>A (n.*194T>A) | |
| 20 | g.4699725T>C | CA311093421 | PRNP | c.505T>C (p.Tyr169His) c.*194T>C (n.*194T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699725T>G | CA408152500 | PRNP | c.505T>G (p.Tyr169Asp) c.*194T>G (n.*194T>G) | COSMIC |
| 20 | g.4699725T= | CA2347156582 | PRNP | c.505T= (p.Tyr169=) c.*194T= (n.*194T=) | |
| 20 | g.4699726A>C | CA408152502 | PRNP | c.506A>C (p.Tyr169Ser) c.*195A>C (n.*195A>C) | |
| 20 | g.4699726A>G | CA408152503 | PRNP | c.506A>G (p.Tyr169Cys) c.*195A>G (n.*195A>G) | gnomAD v4 |
| 20 | g.4699726A>T | CA408152504 | PRNP | c.506A>T (p.Tyr169Phe) c.*195A>T (n.*195A>T) | |
| 20 | g.4699727C>A | CA408152505 | PRNP | c.507C>A (p.Tyr169Ter) c.*196C>A (n.*196C>A) | |
| 20 | g.4699727C= | CA2347156583 | PRNP | c.507C= (p.Tyr169=) c.*196C= (n.*196C=) | |
| 20 | g.4699727C>G | CA408152506 | PRNP | c.507C>G (p.Tyr169Ter) c.*196C>G (n.*196C>G) | |
| 20 | g.4699727C>T | CA9752087 | PRNP | c.507C>T (p.Tyr169=) c.*196C>T (n.*196C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699727_4699728delinsAG | CA2695229271 | PRNP | c.507_508delinsAG (p.Tyr169Ter) c.*196_*197delinsAG (n.*196_*197delinsAG) | |
| 20 | g.4699728A= | CA2347156584 | PRNP | c.508A= (p.Ser170=) c.*197A= (n.*197A=) | |
| 20 | g.4699728A>C | CA408152507 | PRNP | c.508A>C (p.Ser170Arg) c.*197A>C (n.*197A>C) | |
| 20 | g.4699728A>G | CA408152508 | PRNP | c.508A>G (p.Ser170Gly) c.*197A>G (n.*197A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699728A>T | CA408152509 | PRNP | c.508A>T (p.Ser170Cys) c.*197A>T (n.*197A>T) | |
| 20 | g.4699729G>A | CA408152510 | PRNP | c.509G>A (p.Ser170Asn) c.*198G>A (n.*198G>A) | |
| 20 | g.4699729G>C | CA408152511 | PRNP | c.509G>C (p.Ser170Thr) c.*198G>C (n.*198G>C) | |
| 20 | g.4699729G>T | CA408152512 | PRNP | c.509G>T (p.Ser170Ile) c.*198G>T (n.*198G>T) | |
| 20 | g.4699730C>A | CA408152513 | PRNP | c.510C>A (p.Ser170Arg) c.*199C>A (n.*199C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699730C= | CA2347156585 | PRNP | c.510C= (p.Ser170=) c.*199C= (n.*199C=) | |
| 20 | g.4699730C>G | CA408152514 | PRNP | c.510C>G (p.Ser170Arg) c.*199C>G (n.*199C>G) | |
| 20 | g.4699730C>T | CA509567447 | PRNP | c.510C>T (p.Ser170=) c.*199C>T (n.*199C>T) | |
| 20 | g.4699731A>C | CA408152515 | PRNP | c.511A>C (p.Asn171His) c.*200A>C (n.*200A>C) | |
| 20 | g.4699731A>G | CA408152516 | PRNP | c.511A>G (p.Asn171Asp) c.*200A>G (n.*200A>G) | |
| 20 | g.4699731A>T | CA408152517 | PRNP | c.511A>T (p.Asn171Tyr) c.*200A>T (n.*200A>T) | |
| 20 | g.4699732A= | CA2347156586 | PRNP | c.512A= (p.Asn171=) c.*201A= (n.*201A=) | |
| 20 | g.4699732A>C | CA408152518 | PRNP | c.512A>C (p.Asn171Thr) c.*201A>C (n.*201A>C) | |
| 20 | g.4699732A>G | CA123092 | PRNP | c.512A>G (p.Asn171Ser) c.*201A>G (n.*201A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699732A>T | CA408152519 | PRNP | c.512A>T (p.Asn171Ile) c.*201A>T (n.*201A>T) | |
| 20 | g.4699733C>A | CA408152520 | PRNP | c.513C>A (p.Asn171Lys) c.*202C>A (n.*202C>A) | |
| 20 | g.4699733C= | CA2347156587 | PRNP | c.513C= (p.Asn171=) c.*202C= (n.*202C=) | |
| 20 | g.4699733C>G | CA9752088 | PRNP | c.513C>G (p.Asn171Lys) c.*202C>G (n.*202C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699733C>T | CA509567448 | PRNP | c.513C>T (p.Asn171=) c.*202C>T (n.*202C>T) | gnomAD v4 |
| 20 | g.4699734C>A | CA408152521 | PRNP | c.514C>A (p.Gln172Lys) c.*203C>A (n.*203C>A) | |
| 20 | g.4699734C>G | CA408152522 | PRNP | c.514C>G (p.Gln172Glu) c.*203C>G (n.*203C>G) | |
| 20 | g.4699734C>T | CA408152523 | PRNP | c.514C>T (p.Gln172Ter) c.*203C>T (n.*203C>T) | |
| 20 | g.4699735A= | CA2347156588 | PRNP | c.515A= (p.Gln172=) c.*204A= (n.*204A=) | |
| 20 | g.4699735A>C | CA408152524 | PRNP | c.515A>C (p.Gln172Pro) c.*204A>C (n.*204A>C) | |
| 20 | g.4699735A>G | CA408152525 | PRNP | c.515A>G (p.Gln172Arg) c.*204A>G (n.*204A>G) | dbSNP |
| 20 | g.4699735A>T | CA408152526 | PRNP | c.515A>T (p.Gln172Leu) c.*204A>T (n.*204A>T) | |
| 20 | g.4699736G>A | CA9752089 | PRNP | c.516G>A (p.Gln172=) c.*205G>A (n.*205G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699736G>C | CA408152528 | PRNP | c.516G>C (p.Gln172His) c.*205G>C (n.*205G>C) | |
| 20 | g.4699736G= | CA2347156589 | PRNP | c.516G= (p.Gln172=) c.*205G= (n.*205G=) | |
| 20 | g.4699736G>T | CA408152527 | PRNP | c.516G>T (p.Gln172His) c.*205G>T (n.*205G>T) | |
| 20 | g.4699737A>C | CA408152529 | PRNP | c.517A>C (p.Asn173His) c.*206A>C (n.*206A>C) | COSMIC |
| 20 | g.4699737A>G | CA408152530 | PRNP | c.517A>G (p.Asn173Asp) c.*206A>G (n.*206A>G) | |
| 20 | g.4699737A>T | CA408152531 | PRNP | c.517A>T (p.Asn173Tyr) c.*206A>T (n.*206A>T) | |
| 20 | g.4699738A= | CA2347156590 | PRNP | c.518A= (p.Asn173=) c.*207A= (n.*207A=) | |
| 20 | g.4699738A>C | CA408152532 | PRNP | c.518A>C (p.Asn173Thr) c.*207A>C (n.*207A>C) | gnomAD v4 |
| 20 | g.4699738A>G | CA408152533 | PRNP | c.518A>G (p.Asn173Ser) c.*207A>G (n.*207A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699738A>T | CA408152534 | PRNP | c.518A>T (p.Asn173Ile) c.*207A>T (n.*207A>T) | |
| 20 | g.4699739C>A | CA408152535 | PRNP | c.519C>A (p.Asn173Lys) c.*208C>A (n.*208C>A) | |
| 20 | g.4699739C= | CA2347156591 | PRNP | c.519C= (p.Asn173=) c.*208C= (n.*208C=) | |
| 20 | g.4699739C>G | CA408152536 | PRNP | c.519C>G (p.Asn173Lys) c.*208C>G (n.*208C>G) | |
| 20 | g.4699739C>T | CA9752090 | PRNP | c.519C>T (p.Asn173=) c.*208C>T (n.*208C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699740A>C | CA408152537 | PRNP | c.520A>C (p.Asn174His) c.*209A>C (n.*209A>C) | gnomAD v4 |
| 20 | g.4699740A>G | CA408152538 | PRNP | c.520A>G (p.Asn174Asp) c.*209A>G (n.*209A>G) | |
| 20 | g.4699740A>T | CA408152539 | PRNP | c.520A>T (p.Asn174Tyr) c.*209A>T (n.*209A>T) | |
| 20 | g.4699741A>C | CA408152541 | PRNP | c.521A>C (p.Asn174Thr) c.*210A>C (n.*210A>C) | |
| 20 | g.4699741A>G | CA408152542 | PRNP | c.521A>G (p.Asn174Ser) c.*210A>G (n.*210A>G) | gnomAD v4 |
| 20 | g.4699741A>T | CA408152540 | PRNP | c.521A>T (p.Asn174Ile) c.*210A>T (n.*210A>T) | |
| 20 | g.4699742C>A | CA408152543 | PRNP | c.522C>A (p.Asn174Lys) c.*211C>A (n.*211C>A) | |
| 20 | g.4699742C>G | CA408152544 | PRNP | c.522C>G (p.Asn174Lys) c.*211C>G (n.*211C>G) | |
| 20 | g.4699742C>T | CA509567462 | PRNP | c.522C>T (p.Asn174=) c.*211C>T (n.*211C>T) | gnomAD v4 |
| 20 | g.4699743T>A | CA408152545 | PRNP | c.523T>A (p.Phe175Ile) c.*212T>A (n.*212T>A) | |
| 20 | g.4699743T>C | CA408152547 | PRNP | c.523T>C (p.Phe175Leu) c.*212T>C (n.*212T>C) | |
| 20 | g.4699743T>G | CA408152546 | PRNP | c.523T>G (p.Phe175Val) c.*212T>G (n.*212T>G) | |
| 20 | g.4699744T>A | CA408152548 | PRNP | c.524T>A (p.Phe175Tyr) c.*213T>A (n.*213T>A) | |
| 20 | g.4699744T>C | CA408152549 | PRNP | c.524T>C (p.Phe175Ser) c.*213T>C (n.*213T>C) | |
| 20 | g.4699744T>G | CA408152550 | PRNP | c.524T>G (p.Phe175Cys) c.*213T>G (n.*213T>G) | |
| 20 | g.4699745T>A | CA408152551 | PRNP | c.525T>A (p.Phe175Leu) c.*214T>A (n.*214T>A) | gnomAD v4 |
| 20 | g.4699745T>C | CA509567469 | PRNP | c.525T>C (p.Phe175=) c.*214T>C (n.*214T>C) | |
| 20 | g.4699745T>G | CA408152552 | PRNP | c.525T>G (p.Phe175Leu) c.*214T>G (n.*214T>G) | |
| 20 | g.4699746G>A | CA408152553 | PRNP | c.526G>A (p.Val176Met) c.*215G>A (n.*215G>A) | |
| 20 | g.4699746G>C | CA408152554 | PRNP | c.526G>C (p.Val176Leu) c.*215G>C (n.*215G>C) | |
| 20 | g.4699746G>T | CA408152555 | PRNP | c.526G>T (p.Val176Leu) c.*215G>T (n.*215G>T) | |
| 20 | g.4699747T>A | CA408152556 | PRNP | c.527T>A (p.Val176Glu) c.*216T>A (n.*216T>A) | |
| 20 | g.4699747T>C | CA408152557 | PRNP | c.527T>C (p.Val176Ala) c.*216T>C (n.*216T>C) | |
| 20 | g.4699747T>G | CA408152558 | PRNP | c.527T>G (p.Val176Gly) c.*216T>G (n.*216T>G) | |
| 20 | g.4699748G>A | CA9752091 | PRNP | c.528G>A (p.Val176=) c.*217G>A (n.*217G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699748G>C | CA509567473 | PRNP | c.528G>C (p.Val176=) c.*217G>C (n.*217G>C) | |
| 20 | g.4699748G= | CA2347156592 | PRNP | c.528G= (p.Val176=) c.*217G= (n.*217G=) | |
| 20 | g.4699748G>T | CA509567475 | PRNP | c.528G>T (p.Val176=) c.*217G>T (n.*217G>T) | |
| 20 | g.4699749C>A | CA408152559 | PRNP | c.529C>A (p.His177Asn) c.*218C>A (n.*218C>A) | |
| 20 | g.4699749C>G | CA408152561 | PRNP | c.529C>G (p.His177Asp) c.*218C>G (n.*218C>G) | |
| 20 | g.4699749C>T | CA408152560 | PRNP | c.529C>T (p.His177Tyr) c.*218C>T (n.*218C>T) | gnomAD v4 |
| 20 | g.4699750A>C | CA408152562 | PRNP | c.530A>C (p.His177Pro) c.*219A>C (n.*219A>C) | gnomAD v4 |
| 20 | g.4699750A>G | CA408152563 | PRNP | c.530A>G (p.His177Arg) c.*219A>G (n.*219A>G) | |
| 20 | g.4699750A>T | CA408152564 | PRNP | c.530A>T (p.His177Leu) c.*219A>T (n.*219A>T) | |
| 20 | g.4699751C>A | CA408152565 | PRNP | c.531C>A (p.His177Gln) c.*220C>A (n.*220C>A) | |
| 20 | g.4699751C= | CA2347156593 | PRNP | c.531C= (p.His177=) c.*220C= (n.*220C=) | |
| 20 | g.4699751C>G | CA9752092 | PRNP | c.531C>G (p.His177Gln) c.*220C>G (n.*220C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699751C>T | CA9752093 | PRNP | c.531C>T (p.His177=) c.*220C>T (n.*220C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699752G>A | CA261110 | PRNP | c.532G>A (p.Asp178Asn) c.*221G>A (n.*221G>A) | ClinVar dbSNP gnomAD v4 |
| 20 | g.4699752G>C | CA408152566 | PRNP | c.532G>C (p.Asp178His) c.*221G>C (n.*221G>C) | |
| 20 | g.4699752G= | CA2347156594 | PRNP | c.532G= (p.Asp178=) c.*221G= (n.*221G=) | |
| 20 | g.4699752G>T | CA408152567 | PRNP | c.532G>T (p.Asp178Tyr) c.*221G>T (n.*221G>T) | gnomAD v4 |
| 20 | g.4699753A>C | CA408152568 | PRNP | c.533A>C (p.Asp178Ala) c.*222A>C (n.*222A>C) | |
| 20 | g.4699753A>G | CA408152569 | PRNP | c.533A>G (p.Asp178Gly) c.*222A>G (n.*222A>G) | |
| 20 | g.4699753A>T | CA311093422 | PRNP | c.533A>T (p.Asp178Val) c.*222A>T (n.*222A>T) | |
| 20 | g.4699754C>A | CA408152570 | PRNP | c.534C>A (p.Asp178Glu) c.*223C>A (n.*223C>A) | |
| 20 | g.4699754C>G | CA408152571 | PRNP | c.534C>G (p.Asp178Glu) c.*223C>G (n.*223C>G) | |
| 20 | g.4699754C>T | CA509567477 | PRNP | c.534C>T (p.Asp178=) c.*223C>T (n.*223C>T) | |
| 20 | g.4699754_4699755del | CA2695229272 | PRNP | c.534_535del (p.Asp178GlufsTer26) c.*223_*224del (n.*223_*224del) | |
| 20 | g.4699755T>A | CA408152572 | PRNP | c.535T>A (p.Cys179Ser) c.*224T>A (n.*224T>A) | |
| 20 | g.4699755T>C | CA408152573 | PRNP | c.535T>C (p.Cys179Arg) c.*224T>C (n.*224T>C) | |
| 20 | g.4699755T>G | CA408152574 | PRNP | c.535T>G (p.Cys179Gly) c.*224T>G (n.*224T>G) | |
| 20 | g.4699756G>A | CA408152575 | PRNP | c.536G>A (p.Cys179Tyr) c.*225G>A (n.*225G>A) | |
| 20 | g.4699756G>C | CA408152576 | PRNP | c.536G>C (p.Cys179Ser) c.*225G>C (n.*225G>C) | |
| 20 | g.4699756G>T | CA408152577 | PRNP | c.536G>T (p.Cys179Phe) c.*225G>T (n.*225G>T) | |
| 20 | g.4699757C>A | CA408152578 | PRNP | c.537C>A (p.Cys179Ter) c.*226C>A (n.*226C>A) | |
| 20 | g.4699757C= | CA2347156595 | PRNP | c.537C= (p.Cys179=) c.*226C= (n.*226C=) | |
| 20 | g.4699757C>G | CA408152579 | PRNP | c.537C>G (p.Cys179Trp) c.*226C>G (n.*226C>G) | |
| 20 | g.4699757C>T | CA9752094 | PRNP | c.537C>T (p.Cys179=) c.*226C>T (n.*226C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.4699758G>A | CA256782 | PRNP | c.538G>A (p.Val180Ile) c.*227G>A (n.*227G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.4699758G>C | CA408152581 | PRNP | c.538G>C (p.Val180Leu) c.*227G>C (n.*227G>C) | |
| 20 | g.4699758G= | CA2347156596 | PRNP | c.538G= (p.Val180=) c.*227G= (n.*227G=) | |
| 20 | g.4699758G>T | CA408152580 | PRNP | c.538G>T (p.Val180Phe) c.*227G>T (n.*227G>T) | |
| 20 | g.4699759T>A | CA408152582 | PRNP | c.539T>A (p.Val180Asp) c.*228T>A (n.*228T>A) | |
| 20 | g.4699759T>C | CA311093423 | PRNP | c.539T>C (p.Val180Ala) c.*228T>C (n.*228T>C) | dbSNP |
| 20 | g.4699759T>G | CA408152583 | PRNP | c.539T>G (p.Val180Gly) c.*228T>G (n.*228T>G) | |
| 20 | g.4699759T= | CA2347156597 | PRNP | c.539T= (p.Val180=) c.*228T= (n.*228T=) | |
| 20 | g.4699760C>A | CA509567483 | PRNP | c.540C>A (p.Val180=) c.*229C>A (n.*229C>A) | |
| 20 | g.4699760C= | CA2347156598 | PRNP | c.540C= (p.Val180=) c.*229C= (n.*229C=) | |
| 20 | g.4699760C>G | CA509567484 | PRNP | c.540C>G (p.Val180=) c.*229C>G (n.*229C>G) | |
| 20 | g.4699760C>T | CA311093424 | PRNP | c.540C>T (p.Val180=) c.*229C>T (n.*229C>T) | dbSNP gnomAD v2 gnomAD v4 |