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.4699506C>A | CA408152019 | PRNP | c.286C>A (p.His96Asn) c.197C>A (p.Pro66Gln) | |
| 20 | g.4699506C= | CA2347156485 | PRNP | c.286C= (p.His96=) c.197C= (p.Pro66=) | |
| 20 | g.4699506C>G | CA408152018 | PRNP | c.286C>G (p.His96Asp) c.197C>G (p.Pro66Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699506C>T | CA408152017 | PRNP | c.286C>T (p.His96Tyr) c.197C>T (p.Pro66Leu) | gnomAD v4 |
| 20 | g.4699507A>C | CA408152020 | PRNP | c.287A>C (p.His96Pro) c.198A>C (p.Pro66=) | gnomAD v4 |
| 20 | g.4699507A>G | CA408152021 | PRNP | c.287A>G (p.His96Arg) c.198A>G (p.Pro66=) | |
| 20 | g.4699507A>T | CA408152022 | PRNP | c.287A>T (p.His96Leu) c.198A>T (p.Pro66=) | |
| 20 | g.4699508C>A | CA408152023 | PRNP | c.288C>A (p.His96Gln) c.199C>A (p.Gln67Lys) | |
| 20 | g.4699508C= | CA2347156486 | PRNP | c.288C= (p.His96=) c.199C= (p.Gln67=) | |
| 20 | g.4699508C>G | CA408152024 | PRNP | c.288C>G (p.His96Gln) c.199C>G (p.Gln67Glu) | |
| 20 | g.4699508C>T | CA509567314 | PRNP | c.288C>T (p.His96=) c.199C>T (p.Gln67Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699509A>C | CA408152025 | PRNP | c.289A>C (p.Ser97Arg) c.200A>C (p.Gln67Pro) | |
| 20 | g.4699509A>G | CA408152026 | PRNP | c.289A>G (p.Ser97Gly) c.200A>G (p.Gln67Arg) | |
| 20 | g.4699509A>T | CA408152027 | PRNP | c.289A>T (p.Ser97Cys) c.200A>T (p.Gln67Leu) | |
| 20 | g.4699510G>A | CA311093299 | PRNP | c.290G>A (p.Ser97Asn) c.201G>A (p.Gln67=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699510G>C | CA408152028 | PRNP | c.290G>C (p.Ser97Thr) c.201G>C (p.Gln67His) | |
| 20 | g.4699510G= | CA2347156487 | PRNP | c.290G= (p.Ser97=) c.201G= (p.Gln67=) | |
| 20 | g.4699510G>T | CA408152029 | PRNP | c.290G>T (p.Ser97Ile) c.201G>T (p.Gln67His) | |
| 20 | g.4699511T>A | CA408152030 | PRNP | c.291T>A (p.Ser97Arg) c.202T>A (p.Ser68Thr) | gnomAD v4 |
| 20 | g.4699511T>C | CA509567320 | PRNP | c.291T>C (p.Ser97=) c.202T>C (p.Ser68Pro) | |
| 20 | g.4699511T>G | CA408152031 | PRNP | c.291T>G (p.Ser97Arg) c.202T>G (p.Ser68Ala) | |
| 20 | g.4699512C>A | CA408152034 | PRNP | c.292C>A (p.Gln98Lys) c.203C>A (p.Ser68Ter) | |
| 20 | g.4699512C>G | CA408152033 | PRNP | c.292C>G (p.Gln98Glu) c.203C>G (p.Ser68Ter) | |
| 20 | g.4699512C>T | CA408152032 | PRNP | c.292C>T (p.Gln98Ter) c.203C>T (p.Ser68Leu) | |
| 20 | g.4699513A= | CA2347156488 | PRNP | c.293A= (p.Gln98=) c.204A= (p.Ser68=) | |
| 20 | g.4699513A>C | CA408152036 | PRNP | c.293A>C (p.Gln98Pro) c.204A>C (p.Ser68=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.4699513A>G | CA408152035 | PRNP | c.293A>G (p.Gln98Arg) c.204A>G (p.Ser68=) | |
| 20 | g.4699513A>T | CA408152037 | PRNP | c.293A>T (p.Gln98Leu) c.204A>T (p.Ser68=) | |
| 20 | g.4699514G>A | CA509567324 | PRNP | c.294G>A (p.Gln98=) c.205G>A (p.Val69Met) | |
| 20 | g.4699514G>C | CA408152038 | PRNP | c.294G>C (p.Gln98His) c.205G>C (p.Val69Leu) | |
| 20 | g.4699514G>T | CA408152039 | PRNP | c.294G>T (p.Gln98His) c.205G>T (p.Val69Leu) | gnomAD v4 |
| 20 | g.4699515T>A | CA408152040 | PRNP | c.295T>A (p.Trp99Arg) c.206T>A (p.Val69Glu) | |
| 20 | g.4699515T>C | CA408152041 | PRNP | c.295T>C (p.Trp99Arg) c.206T>C (p.Val69Ala) | |
| 20 | g.4699515T>G | CA408152042 | PRNP | c.295T>G (p.Trp99Gly) c.206T>G (p.Val69Gly) | |
| 20 | g.4699516G>A | CA408152045 | PRNP | c.296G>A (p.Trp99Ter) c.207G>A (p.Val69=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699516G>C | CA408152044 | PRNP | c.296G>C (p.Trp99Ser) c.207G>C (p.Val69=) | |
| 20 | g.4699516G= | CA2347156489 | PRNP | c.296G= (p.Trp99=) c.207G= (p.Val69=) | |
| 20 | g.4699516G>T | CA408152043 | PRNP | c.296G>T (p.Trp99Leu) c.207G>T (p.Val69=) | |
| 20 | g.4699517G>A | CA408152046 | PRNP | c.297G>A (p.Trp99Ter) c.208G>A (p.Glu70Lys) | |
| 20 | g.4699517G>C | CA408152047 | PRNP | c.297G>C (p.Trp99Cys) c.208G>C (p.Glu70Gln) | |
| 20 | g.4699517G>T | CA408152048 | PRNP | c.297G>T (p.Trp99Cys) c.208G>T (p.Glu70Ter) | |
| 20 | g.4699517_4699520delinsGAAC | CA2347156490 | PRNP | c.297_300delinsGAAC (p.Trp99=) c.208_211delinsGAAC (p.Glu70=) | |
| 20 | g.4699518A>C | CA408152049 | PRNP | c.298A>C (p.Asn100His) c.209A>C (p.Glu70Ala) | |
| 20 | g.4699518A>G | CA408152050 | PRNP | c.298A>G (p.Asn100Asp) c.209A>G (p.Glu70Gly) | |
| 20 | g.4699518A>T | CA408152051 | PRNP | c.298A>T (p.Asn100Tyr) c.209A>T (p.Glu70Val) | |
| 20 | g.4699520_4699522del | CA2347156491 | PRNP | c.300_302del (p.Asn100del) c.211_213del (p.Gln71del) | dbSNP |
| 20 | g.4699519A>C | CA408152052 | PRNP | c.299A>C (p.Asn100Thr) c.210A>C (p.Glu70Asp) | |
| 20 | g.4699519A>G | CA408152054 | PRNP | c.299A>G (p.Asn100Ser) c.210A>G (p.Glu70=) | |
| 20 | g.4699519A>T | CA408152053 | PRNP | c.299A>T (p.Asn100Ile) c.210A>T (p.Glu70Asp) | |
| 20 | g.4699520C>A | CA408152055 | PRNP | c.300C>A (p.Asn100Lys) c.211C>A (p.Gln71Lys) | |
| 20 | g.4699520C= | CA2347156492 | PRNP | c.300C= (p.Asn100=) c.211C= (p.Gln71=) | |
| 20 | g.4699520C>G | CA408152056 | PRNP | c.300C>G (p.Asn100Lys) c.211C>G (p.Gln71Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699520C>T | CA509567334 | PRNP | c.300C>T (p.Asn100=) c.211C>T (p.Gln71Ter) | gnomAD v4 |
| 20 | g.4699521A>C | CA408152057 | PRNP | c.301A>C (p.Lys101Gln) c.212A>C (p.Gln71Pro) | |
| 20 | g.4699521A>G | CA408152058 | PRNP | c.301A>G (p.Lys101Glu) c.212A>G (p.Gln71Arg) | |
| 20 | g.4699521A>T | CA408152059 | PRNP | c.301A>T (p.Lys101Ter) c.212A>T (p.Gln71Leu) | |
| 20 | g.4699522A>C | CA408152060 | PRNP | c.302A>C (p.Lys101Thr) c.213A>C (p.Gln71His) | |
| 20 | g.4699522A>G | CA408152061 | PRNP | c.302A>G (p.Lys101Arg) c.213A>G (p.Gln71=) | |
| 20 | g.4699522A>T | CA408152062 | PRNP | c.302A>T (p.Lys101Met) c.213A>T (p.Gln71His) | gnomAD v4 |
| 20 | g.4699523G>A | CA509567338 | PRNP | c.303G>A (p.Lys101=) c.214G>A (p.Ala72Thr) | |
| 20 | g.4699523G>C | CA408152063 | PRNP | c.303G>C (p.Lys101Asn) c.214G>C (p.Ala72Pro) | |
| 20 | g.4699523G>T | CA408152064 | PRNP | c.303G>T (p.Lys101Asn) c.214G>T (p.Ala72Ser) | |
| 20 | g.4699524C>A | CA408152067 | PRNP | c.304C>A (p.Pro102Thr) c.215C>A (p.Ala72Asp) | |
| 20 | g.4699524C>G | CA408152066 | PRNP | c.304C>G (p.Pro102Ala) c.215C>G (p.Ala72Gly) | |
| 20 | g.4699524C>T | CA408152065 | PRNP | c.304C>T (p.Pro102Ser) c.215C>T (p.Ala72Val) | |
| 20 | g.4699525C>A | CA408152068 | PRNP | c.305C>A (p.Pro102Gln) c.216C>A (p.Ala72=) | |
| 20 | g.4699525C= | CA2347156493 | PRNP | c.305C= (p.Pro102=) c.216C= (p.Ala72=) | |
| 20 | g.4699525C>G | CA408152069 | PRNP | c.305C>G (p.Pro102Arg) c.216C>G (p.Ala72=) | |
| 20 | g.4699525C>T | CA256774 | PRNP | c.305C>T (p.Pro102Leu) c.216C>T (p.Ala72=) | ClinVar dbSNP gnomAD v4 |
| 20 | g.4699526G>A | CA9752048 | PRNP | c.306G>A (p.Pro102=) c.217G>A (p.Glu73Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.4699526G>C | CA509567348 | PRNP | c.306G>C (p.Pro102=) c.217G>C (p.Glu73Gln) | |
| 20 | g.4699526G= | CA2347156494 | PRNP | c.306G= (p.Pro102=) c.217G= (p.Glu73=) | |
| 20 | g.4699526G>T | CA509567349 | PRNP | c.306G>T (p.Pro102=) c.217G>T (p.Glu73Ter) | |
| 20 | g.4699527A>C | CA408152070 | PRNP | c.307A>C (p.Ser103Arg) c.218A>C (p.Glu73Ala) | |
| 20 | g.4699527A>G | CA408152071 | PRNP | c.307A>G (p.Ser103Gly) c.218A>G (p.Glu73Gly) | |
| 20 | g.4699527A>T | CA408152072 | PRNP | c.307A>T (p.Ser103Cys) c.218A>T (p.Glu73Val) | |
| 20 | g.4699528G>A | CA408152073 | PRNP | c.308G>A (p.Ser103Asn) c.219G>A (p.Glu73=) | |
| 20 | g.4699528G>C | CA408152074 | PRNP | c.308G>C (p.Ser103Thr) c.219G>C (p.Glu73Asp) | |
| 20 | g.4699528G>T | CA408152075 | PRNP | c.308G>T (p.Ser103Ile) c.219G>T (p.Glu73Asp) | |
| 20 | g.4699529T>A | CA408152076 | PRNP | c.309T>A (p.Ser103Arg) c.220T>A (p.Ter74Lys) | |
| 20 | g.4699529T>C | CA509567356 | PRNP | c.309T>C (p.Ser103=) c.220T>C (p.Ter74Gln) | |
| 20 | g.4699529T>G | CA408152077 | PRNP | c.309T>G (p.Ser103Arg) c.220T>G (p.Ter74Glu) | |
| 20 | g.4699530A>C | CA408152079 | PRNP | c.310A>C (p.Lys104Gln) c.221A>C (p.Ter74Ser) | |
| 20 | g.4699530A>G | CA408152080 | PRNP | c.310A>G (p.Lys104Glu) c.221A>G (p.Ter74=) | |
| 20 | g.4699530A>T | CA408152078 | PRNP | c.310A>T (p.Lys104Ter) c.221A>T (p.Ter74Leu) | |
| 20 | g.4699531A>C | CA408152081 | PRNP | c.311A>C (p.Lys104Thr) c.222A>C (p.Ter74Tyr) | |
| 20 | g.4699531A>G | CA408152082 | PRNP | c.311A>G (p.Lys104Arg) c.222A>G (p.Ter74=) | |
| 20 | g.4699531A>T | CA408152083 | PRNP | c.311A>T (p.Lys104Met) c.222A>T (p.Ter74Tyr) | |
| 20 | g.4699532G>A | CA509567364 | PRNP | c.312G>A (p.Lys104=) c.*1G>A (n.*1G>A) | |
| 20 | g.4699532G>C | CA408152084 | PRNP | c.312G>C (p.Lys104Asn) c.*1G>C (n.*1G>C) | |
| 20 | g.4699532G>T | CA408152085 | PRNP | c.312G>T (p.Lys104Asn) c.*1G>T (n.*1G>T) | |
| 20 | g.4699533C>A | CA123097 | PRNP | c.313C>A (p.Pro105Thr) c.*2C>A (n.*2C>A) | ClinVar dbSNP |
| 20 | g.4699533C= | CA2347156495 | PRNP | c.313C= (p.Pro105=) c.*2C= (n.*2C=) | |
| 20 | g.4699533C>G | CA408152086 | PRNP | c.313C>G (p.Pro105Ala) c.*2C>G (n.*2C>G) | |
| 20 | g.4699533C>T | CA256788 | PRNP | c.313C>T (p.Pro105Ser) c.*2C>T (n.*2C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699534C>A | CA311093309 | PRNP | c.314C>A (p.Pro105Gln) c.*3C>A (n.*3C>A) | dbSNP gnomAD v4 COSMIC |
| 20 | g.4699534C= | CA2347156496 | PRNP | c.314C= (p.Pro105=) c.*3C= (n.*3C=) | |
| 20 | g.4699534C>G | CA408152087 | PRNP | c.314C>G (p.Pro105Arg) c.*3C>G (n.*3C>G) | |
| 20 | g.4699534C>T | CA204782 | PRNP | c.314C>T (p.Pro105Leu) c.*3C>T (n.*3C>T) | ClinVar dbSNP |
| 20 | g.4699535A>C | CA509567376 | PRNP | c.315A>C (p.Pro105=) c.*4A>C (n.*4A>C) | gnomAD v4 |
| 20 | g.4699535A>G | CA509567381 | PRNP | c.315A>G (p.Pro105=) c.*4A>G (n.*4A>G) | |
| 20 | g.4699535A>T | CA509567382 | PRNP | c.315A>T (p.Pro105=) c.*4A>T (n.*4A>T) | |
| 20 | g.4699536A>C | CA408152088 | PRNP | c.316A>C (p.Lys106Gln) c.*5A>C (n.*5A>C) | |
| 20 | g.4699536A>G | CA408152089 | PRNP | c.316A>G (p.Lys106Glu) c.*5A>G (n.*5A>G) | |
| 20 | g.4699536A>T | CA408152090 | PRNP | c.316A>T (p.Lys106Ter) c.*5A>T (n.*5A>T) | |
| 20 | g.4699537A= | CA2347156497 | PRNP | c.317A= (p.Lys106=) c.*6A= (n.*6A=) | |
| 20 | g.4699537A>C | CA408152092 | PRNP | c.317A>C (p.Lys106Thr) c.*6A>C (n.*6A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699537A>G | CA408152093 | PRNP | c.317A>G (p.Lys106Arg) c.*6A>G (n.*6A>G) | |
| 20 | g.4699537A>T | CA408152091 | PRNP | c.317A>T (p.Lys106Ile) c.*6A>T (n.*6A>T) | |
| 20 | g.4699538A>C | CA408152094 | PRNP | c.318A>C (p.Lys106Asn) c.*7A>C (n.*7A>C) | |
| 20 | g.4699538A>G | CA509567393 | PRNP | c.318A>G (p.Lys106=) c.*7A>G (n.*7A>G) | |
| 20 | g.4699538A>T | CA408152095 | PRNP | c.318A>T (p.Lys106Asn) c.*7A>T (n.*7A>T) | |
| 20 | g.4699539A= | CA2347156498 | PRNP | c.319A= (p.Thr107=) c.*8A= (n.*8A=) | |
| 20 | g.4699539A>C | CA408152096 | PRNP | c.319A>C (p.Thr107Pro) c.*8A>C (n.*8A>C) | |
| 20 | g.4699539A>G | CA9752049 | PRNP | c.319A>G (p.Thr107Ala) c.*8A>G (n.*8A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699539A>T | CA408152097 | PRNP | c.319A>T (p.Thr107Ser) c.*8A>T (n.*8A>T) | |
| 20 | g.4699540C>A | CA408152098 | PRNP | c.320C>A (p.Thr107Asn) c.*9C>A (n.*9C>A) | gnomAD v4 |
| 20 | g.4699540C>G | CA408152099 | PRNP | c.320C>G (p.Thr107Ser) c.*9C>G (n.*9C>G) | |
| 20 | g.4699540C>T | CA408152100 | PRNP | c.320C>T (p.Thr107Ile) c.*9C>T (n.*9C>T) | |
| 20 | g.4699541C>A | CA509567399 | PRNP | c.321C>A (p.Thr107=) c.*10C>A (n.*10C>A) | |
| 20 | g.4699541C>G | CA509567400 | PRNP | c.321C>G (p.Thr107=) c.*10C>G (n.*10C>G) | |
| 20 | g.4699541C>T | CA509567401 | PRNP | c.321C>T (p.Thr107=) c.*10C>T (n.*10C>T) | |
| 20 | g.4699542A>C | CA408152101 | PRNP | c.322A>C (p.Asn108His) c.*11A>C (n.*11A>C) | |
| 20 | g.4699542A>G | CA408152102 | PRNP | c.322A>G (p.Asn108Asp) c.*11A>G (n.*11A>G) | |
| 20 | g.4699542A>T | CA408152103 | PRNP | c.322A>T (p.Asn108Tyr) c.*11A>T (n.*11A>T) | |
| 20 | g.4699543A>C | CA408152104 | PRNP | c.323A>C (p.Asn108Thr) c.*12A>C (n.*12A>C) | |
| 20 | g.4699543A>G | CA408152105 | PRNP | c.323A>G (p.Asn108Ser) c.*12A>G (n.*12A>G) | |
| 20 | g.4699543A>T | CA408152106 | PRNP | c.323A>T (p.Asn108Ile) c.*12A>T (n.*12A>T) | |
| 20 | g.4699544C>A | CA408152107 | PRNP | c.324C>A (p.Asn108Lys) c.*13C>A (n.*13C>A) | |
| 20 | g.4699544C>G | CA408152108 | PRNP | c.324C>G (p.Asn108Lys) c.*13C>G (n.*13C>G) | |
| 20 | g.4699544C>T | CA509567412 | PRNP | c.324C>T (p.Asn108=) c.*13C>T (n.*13C>T) | |
| 20 | g.4699545A= | CA2347156499 | PRNP | c.325A= (p.Met109=) c.*14A= (n.*14A=) | |
| 20 | g.4699545A>C | CA408152111 | PRNP | c.325A>C (p.Met109Leu) c.*14A>C (n.*14A>C) | |
| 20 | g.4699545A>G | CA408152110 | PRNP | c.325A>G (p.Met109Val) c.*14A>G (n.*14A>G) | gnomAD v4 |
| 20 | g.4699545A>T | CA408152109 | PRNP | c.325A>T (p.Met109Leu) c.*14A>T (n.*14A>T) | dbSNP gnomAD v4 |
| 20 | g.4699546T>A | CA408152112 | PRNP | c.326T>A (p.Met109Lys) c.*15T>A (n.*15T>A) | |
| 20 | g.4699546T>C | CA408152113 | PRNP | c.326T>C (p.Met109Thr) c.*15T>C (n.*15T>C) | gnomAD v4 |
| 20 | g.4699546T>G | CA408152114 | PRNP | c.326T>G (p.Met109Arg) c.*15T>G (n.*15T>G) | gnomAD v4 |
| 20 | g.4699547G>A | CA408152115 | PRNP | c.327G>A (p.Met109Ile) c.*16G>A (n.*16G>A) | |
| 20 | g.4699547G>C | CA408152116 | PRNP | c.327G>C (p.Met109Ile) c.*16G>C (n.*16G>C) | |
| 20 | g.4699547G>T | CA408152117 | PRNP | c.327G>T (p.Met109Ile) c.*16G>T (n.*16G>T) | |
| 20 | g.4699548A>C | CA408152118 | PRNP | c.328A>C (p.Lys110Gln) c.*17A>C (n.*17A>C) | |
| 20 | g.4699548A>G | CA408152119 | PRNP | c.328A>G (p.Lys110Glu) c.*17A>G (n.*17A>G) | |
| 20 | g.4699548A>T | CA408152120 | PRNP | c.328A>T (p.Lys110Ter) c.*17A>T (n.*17A>T) | |
| 20 | g.4699549A>C | CA408152121 | PRNP | c.329A>C (p.Lys110Thr) c.*18A>C (n.*18A>C) | |
| 20 | g.4699549A>G | CA408152122 | PRNP | c.329A>G (p.Lys110Arg) c.*18A>G (n.*18A>G) | |
| 20 | g.4699549A>T | CA408152123 | PRNP | c.329A>T (p.Lys110Met) c.*18A>T (n.*18A>T) | |
| 20 | g.4699550G>A | CA509567427 | PRNP | c.330G>A (p.Lys110=) c.*19G>A (n.*19G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.4699550G>C | CA408152124 | PRNP | c.330G>C (p.Lys110Asn) c.*19G>C (n.*19G>C) | |
| 20 | g.4699550G= | CA2347156500 | PRNP | c.330G= (p.Lys110=) c.*19G= (n.*19G=) | |
| 20 | g.4699550G>T | CA408152125 | PRNP | c.330G>T (p.Lys110Asn) c.*19G>T (n.*19G>T) | |
| 20 | g.4699551C>A | CA408152126 | PRNP | c.331C>A (p.His111Asn) c.*20C>A (n.*20C>A) | |
| 20 | g.4699551C>G | CA408152127 | PRNP | c.331C>G (p.His111Asp) c.*20C>G (n.*20C>G) | |
| 20 | g.4699551C>T | CA408152128 | PRNP | c.331C>T (p.His111Tyr) c.*20C>T (n.*20C>T) | |
| 20 | g.4699552A>C | CA408152129 | PRNP | c.332A>C (p.His111Pro) c.*21A>C (n.*21A>C) | |
| 20 | g.4699552A>G | CA408152130 | PRNP | c.332A>G (p.His111Arg) c.*21A>G (n.*21A>G) | gnomAD v4 |
| 20 | g.4699552A>T | CA408152131 | PRNP | c.332A>T (p.His111Leu) c.*21A>T (n.*21A>T) | |
| 20 | g.4699553C>A | CA408152132 | PRNP | c.333C>A (p.His111Gln) c.*22C>A (n.*22C>A) | gnomAD v4 |
| 20 | g.4699553C= | CA2347156501 | PRNP | c.333C= (p.His111=) c.*22C= (n.*22C=) | |
| 20 | g.4699553C>G | CA408152133 | PRNP | c.333C>G (p.His111Gln) c.*22C>G (n.*22C>G) | |
| 20 | g.4699553C>T | CA9752050 | PRNP | c.333C>T (p.His111=) c.*22C>T (n.*22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.4699554A= | CA2347156502 | PRNP | c.334A= (p.Met112=) c.*23A= (n.*23A=) | |
| 20 | g.4699554A>C | CA408152134 | PRNP | c.334A>C (p.Met112Leu) c.*23A>C (n.*23A>C) | |
| 20 | g.4699554A>G | CA408152135 | PRNP | c.334A>G (p.Met112Val) c.*23A>G (n.*23A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699554A>T | CA408152136 | PRNP | c.334A>T (p.Met112Leu) c.*23A>T (n.*23A>T) | |
| 20 | g.4699555T>A | CA408152139 | PRNP | c.335T>A (p.Met112Lys) c.*24T>A (n.*24T>A) | |
| 20 | g.4699555T>C | CA408152137 | PRNP | c.335T>C (p.Met112Thr) c.*24T>C (n.*24T>C) | gnomAD v4 |
| 20 | g.4699555T>G | CA408152138 | PRNP | c.335T>G (p.Met112Arg) c.*24T>G (n.*24T>G) | |
| 20 | g.4699556G>A | CA9752051 | PRNP | c.336G>A (p.Met112Ile) c.*25G>A (n.*25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699556G>C | CA408152140 | PRNP | c.336G>C (p.Met112Ile) c.*25G>C (n.*25G>C) | |
| 20 | g.4699556G= | CA2347156503 | PRNP | c.336G= (p.Met112=) c.*25G= (n.*25G=) | |
| 20 | g.4699556G>T | CA408152141 | PRNP | c.336G>T (p.Met112Ile) c.*25G>T (n.*25G>T) | |
| 20 | g.4699557G>A | CA408152142 | PRNP | c.337G>A (p.Ala113Thr) c.*26G>A (n.*26G>A) | |
| 20 | g.4699557G>C | CA408152143 | PRNP | c.337G>C (p.Ala113Pro) c.*26G>C (n.*26G>C) | |
| 20 | g.4699557G>T | CA408152144 | PRNP | c.337G>T (p.Ala113Ser) c.*26G>T (n.*26G>T) | |
| 20 | g.4699558C>A | CA408152145 | PRNP | c.338C>A (p.Ala113Asp) c.*27C>A (n.*27C>A) | |
| 20 | g.4699558C= | CA2347156504 | PRNP | c.338C= (p.Ala113=) c.*27C= (n.*27C=) | |
| 20 | g.4699558C>G | CA408152146 | PRNP | c.338C>G (p.Ala113Gly) c.*27C>G (n.*27C>G) | |
| 20 | g.4699558C>T | CA408152147 | PRNP | c.338C>T (p.Ala113Val) c.*27C>T (n.*27C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699559T>A | CA509567602 | PRNP | c.339T>A (p.Ala113=) c.*28T>A (n.*28T>A) | |
| 20 | g.4699559T>C | CA509567603 | PRNP | c.339T>C (p.Ala113=) c.*28T>C (n.*28T>C) | |
| 20 | g.4699559T>G | CA509567604 | PRNP | c.339T>G (p.Ala113=) c.*28T>G (n.*28T>G) | |
| 20 | g.4699560G>A | CA311093318 | PRNP | c.340G>A (p.Gly114Ser) c.*29G>A (n.*29G>A) | dbSNP |
| 20 | g.4699560G>C | CA408152148 | PRNP | c.340G>C (p.Gly114Arg) c.*29G>C (n.*29G>C) | dbSNP gnomAD v4 |
| 20 | g.4699560G= | CA2347156505 | PRNP | c.340G= (p.Gly114=) c.*29G= (n.*29G=) | |
| 20 | g.4699560G>T | CA408152149 | PRNP | c.340G>T (p.Gly114Cys) c.*29G>T (n.*29G>T) | |
| 20 | g.4699561G>A | CA408152151 | PRNP | c.341G>A (p.Gly114Asp) c.*30G>A (n.*30G>A) | |
| 20 | g.4699561G>C | CA408152152 | PRNP | c.341G>C (p.Gly114Ala) c.*30G>C (n.*30G>C) | |
| 20 | g.4699561G= | CA2347156507 | PRNP | c.341G= (p.Gly114=) c.*30G= (n.*30G=) | |
| 20 | g.4699561G>T | CA408152150 | PRNP | c.341G>T (p.Gly114Val) c.*30G>T (n.*30G>T) | dbSNP |
| 20 | g.4699561_4699574delinsGTGCTGCAGCAGCT | CA2347156506 | PRNP | c.341_354delinsGTGCTGCAGCAGCT (p.Gly114=) c.*30_*43delinsGTGCTGCAGCAGCT (n.*30_*43delinsGTGCTGCAGCAGCT) | |
| 20 | g.4699562T>A | CA509567608 | PRNP | c.342T>A (p.Gly114=) c.*31T>A (n.*31T>A) | |
| 20 | g.4699562T>C | CA509567609 | PRNP | c.342T>C (p.Gly114=) c.*31T>C (n.*31T>C) | |
| 20 | g.4699562T>G | CA9752052 | PRNP | c.342T>G (p.Gly114=) c.*31T>G (n.*31T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699562T= | CA2347156508 | PRNP | c.342T= (p.Gly114=) c.*31T= (n.*31T=) | |
| 20 | g.4699562_4699574del | CA634331326 | PRNP | c.342_354del (p.Ala115GlyfsTer16) c.*31_*43del (n.*31_*43del) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699563G>A | CA408152153 | PRNP | c.343G>A (p.Ala115Thr) c.*32G>A (n.*32G>A) | |
| 20 | g.4699563G>C | CA408152154 | PRNP | c.343G>C (p.Ala115Pro) c.*32G>C (n.*32G>C) | |
| 20 | g.4699563G>T | CA408152155 | PRNP | c.343G>T (p.Ala115Ser) c.*32G>T (n.*32G>T) | |
| 20 | g.4699564C>A | CA408152156 | PRNP | c.344C>A (p.Ala115Asp) c.*33C>A (n.*33C>A) | |
| 20 | g.4699564C= | CA2347156509 | PRNP | c.344C= (p.Ala115=) c.*33C= (n.*33C=) | |
| 20 | g.4699564C>G | CA9752053 | PRNP | c.344C>G (p.Ala115Gly) c.*33C>G (n.*33C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699564C>T | CA408152157 | PRNP | c.344C>T (p.Ala115Val) c.*33C>T (n.*33C>T) | |
| 20 | g.4699565T>A | CA509567613 | PRNP | c.345T>A (p.Ala115=) c.*34T>A (n.*34T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699565T>C | CA509567615 | PRNP | c.345T>C (p.Ala115=) c.*34T>C (n.*34T>C) | |
| 20 | g.4699565T>G | CA9752054 | PRNP | c.345T>G (p.Ala115=) c.*34T>G (n.*34T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699565T= | CA2347156510 | PRNP | c.345T= (p.Ala115=) c.*34T= (n.*34T=) | |
| 20 | g.4699566G>A | CA408152158 | PRNP | c.346G>A (p.Ala116Thr) c.*35G>A (n.*35G>A) | |
| 20 | g.4699566G>C | CA408152159 | PRNP | c.346G>C (p.Ala116Pro) c.*35G>C (n.*35G>C) | |
| 20 | g.4699566G>T | CA408152160 | PRNP | c.346G>T (p.Ala116Ser) c.*35G>T (n.*35G>T) | |
| 20 | g.4699567C>A | CA408152161 | PRNP | c.347C>A (p.Ala116Glu) c.*36C>A (n.*36C>A) | |
| 20 | g.4699567C>G | CA408152162 | PRNP | c.347C>G (p.Ala116Gly) c.*36C>G (n.*36C>G) | |
| 20 | g.4699567C>T | CA408152163 | PRNP | c.347C>T (p.Ala116Val) c.*36C>T (n.*36C>T) | |
| 20 | g.4699568A= | CA2347156511 | PRNP | c.348A= (p.Ala116=) c.*37A= (n.*37A=) | |
| 20 | g.4699568A>C | CA509567621 | PRNP | c.348A>C (p.Ala116=) c.*37A>C (n.*37A>C) | dbSNP |
| 20 | g.4699568A>G | CA509567616 | PRNP | c.348A>G (p.Ala116=) c.*37A>G (n.*37A>G) | |
| 20 | g.4699568A>T | CA509567619 | PRNP | c.348A>T (p.Ala116=) c.*37A>T (n.*37A>T) | |
| 20 | g.4699569G>A | CA408152166 | PRNP | c.349G>A (p.Ala117Thr) c.*38G>A (n.*38G>A) | |
| 20 | g.4699569G>C | CA408152164 | PRNP | c.349G>C (p.Ala117Pro) c.*38G>C (n.*38G>C) | |
| 20 | g.4699569G>T | CA408152165 | PRNP | c.349G>T (p.Ala117Ser) c.*38G>T (n.*38G>T) | |
| 20 | g.4699570C>A | CA408152167 | PRNP | c.350C>A (p.Ala117Glu) c.*39C>A (n.*39C>A) | |
| 20 | g.4699570C= | CA2347156512 | PRNP | c.350C= (p.Ala117=) c.*39C= (n.*39C=) | |
| 20 | g.4699570C>G | CA408152168 | PRNP | c.350C>G (p.Ala117Gly) c.*39C>G (n.*39C>G) | |
| 20 | g.4699570C>T | CA256776 | PRNP | c.350C>T (p.Ala117Val) c.*39C>T (n.*39C>T) | ClinVar dbSNP |
| 20 | g.4699570_4699571delinsTG | CA2739277062 | PRNP | c.350_351delinsTG (p.Ala117Val) c.*39_*40delinsTG (n.*39_*40delinsTG) | ClinVar |
| 20 | g.4699571A= | CA2347156513 | PRNP | c.351A= (p.Ala117=) c.*40A= (n.*40A=) | |
| 20 | g.4699571A>C | CA509567623 | PRNP | c.351A>C (p.Ala117=) c.*40A>C (n.*40A>C) | |
| 20 | g.4699571A>G | CA9752055 | PRNP | c.351A>G (p.Ala117=) c.*40A>G (n.*40A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699571A>T | CA509567624 | PRNP | c.351A>T (p.Ala117=) c.*40A>T (n.*40A>T) | |
| 20 | g.4699572G>A | CA408152169 | PRNP | c.352G>A (p.Ala118Thr) c.*41G>A (n.*41G>A) | |
| 20 | g.4699572G>C | CA408152170 | PRNP | c.352G>C (p.Ala118Pro) c.*41G>C (n.*41G>C) | |
| 20 | g.4699572G>T | CA408152171 | PRNP | c.352G>T (p.Ala118Ser) c.*41G>T (n.*41G>T) | |
| 20 | g.4699573C>A | CA408152172 | PRNP | c.353C>A (p.Ala118Asp) c.*42C>A (n.*42C>A) | |
| 20 | g.4699573C>G | CA408152173 | PRNP | c.353C>G (p.Ala118Gly) c.*42C>G (n.*42C>G) | |
| 20 | g.4699573C>T | CA408152174 | PRNP | c.353C>T (p.Ala118Val) c.*42C>T (n.*42C>T) | |
| 20 | g.4699574T>A | CA509567628 | PRNP | c.354T>A (p.Ala118=) c.*43T>A (n.*43T>A) | COSMIC |
| 20 | g.4699574T>C | CA509567629 | PRNP | c.354T>C (p.Ala118=) c.*43T>C (n.*43T>C) | |
| 20 | g.4699574T>G | CA509567630 | PRNP | c.354T>G (p.Ala118=) c.*43T>G (n.*43T>G) | |
| 20 | g.4699575G>A | CA408152175 | PRNP | c.355G>A (p.Gly119Arg) c.*44G>A (n.*44G>A) | |
| 20 | g.4699575G>C | CA408152176 | PRNP | c.355G>C (p.Gly119Arg) c.*44G>C (n.*44G>C) | |
| 20 | g.4699575G>T | CA408152177 | PRNP | c.355G>T (p.Gly119Trp) c.*44G>T (n.*44G>T) | |
| 20 | g.4699576G>A | CA408152178 | PRNP | c.356G>A (p.Gly119Glu) c.*45G>A (n.*45G>A) | |
| 20 | g.4699576G>C | CA408152180 | PRNP | c.356G>C (p.Gly119Ala) c.*45G>C (n.*45G>C) | |
| 20 | g.4699576G>T | CA408152179 | PRNP | c.356G>T (p.Gly119Val) c.*45G>T (n.*45G>T) | |
| 20 | g.4699577G>A | CA509567634 | PRNP | c.357G>A (p.Gly119=) c.*46G>A (n.*46G>A) | |
| 20 | g.4699577G>C | CA509567635 | PRNP | c.357G>C (p.Gly119=) c.*46G>C (n.*46G>C) | |
| 20 | g.4699577G>T | CA509567636 | PRNP | c.357G>T (p.Gly119=) c.*46G>T (n.*46G>T) | gnomAD v4 |
| 20 | g.4699578G>A | CA408152181 | PRNP | c.358G>A (p.Ala120Thr) c.*47G>A (n.*47G>A) | |
| 20 | g.4699578G>C | CA408152182 | PRNP | c.358G>C (p.Ala120Pro) c.*47G>C (n.*47G>C) | |
| 20 | g.4699578G>T | CA408152183 | PRNP | c.358G>T (p.Ala120Ser) c.*47G>T (n.*47G>T) | |
| 20 | g.4699579C>A | CA408152184 | PRNP | c.359C>A (p.Ala120Glu) c.*48C>A (n.*48C>A) | COSMIC |
| 20 | g.4699579C>G | CA408152185 | PRNP | c.359C>G (p.Ala120Gly) c.*48C>G (n.*48C>G) | |
| 20 | g.4699579C>T | CA408152186 | PRNP | c.359C>T (p.Ala120Val) c.*48C>T (n.*48C>T) | dbSNP gnomAD v4 |
| 20 | g.4699580A>C | CA509567638 | PRNP | c.360A>C (p.Ala120=) c.*49A>C (n.*49A>C) | |
| 20 | g.4699580A>G | CA509567639 | PRNP | c.360A>G (p.Ala120=) c.*49A>G (n.*49A>G) | |
| 20 | g.4699580A>T | CA509567640 | PRNP | c.360A>T (p.Ala120=) c.*49A>T (n.*49A>T) | |
| 20 | g.4699581G>A | CA408152187 | PRNP | c.361G>A (p.Val121Met) c.*50G>A (n.*50G>A) | |
| 20 | g.4699581G>C | CA408152188 | PRNP | c.361G>C (p.Val121Leu) c.*50G>C (n.*50G>C) | |
| 20 | g.4699581G>T | CA408152189 | PRNP | c.361G>T (p.Val121Leu) c.*50G>T (n.*50G>T) | |
| 20 | g.4699581_4699582insGTG | CA645600597 | PRNP | c.361_362insGTG (p.Ala120_Val121insGly) c.*50_*51insGTG (n.*50_*51insGTG) | COSMIC |
| 20 | g.4699582T>A | CA408152190 | PRNP | c.362T>A (p.Val121Glu) c.*51T>A (n.*51T>A) | |
| 20 | g.4699582T>C | CA408152191 | PRNP | c.362T>C (p.Val121Ala) c.*51T>C (n.*51T>C) | gnomAD v4 |
| 20 | g.4699582T>G | CA408152192 | PRNP | c.362T>G (p.Val121Gly) c.*51T>G (n.*51T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699582T= | CA2347156514 | PRNP | c.362T= (p.Val121=) c.*51T= (n.*51T=) | |
| 20 | g.4699583G>A | CA509567643 | PRNP | c.363G>A (p.Val121=) c.*52G>A (n.*52G>A) | |
| 20 | g.4699583G>C | CA509567644 | PRNP | c.363G>C (p.Val121=) c.*52G>C (n.*52G>C) | |
| 20 | g.4699583G>T | CA509567645 | PRNP | c.363G>T (p.Val121=) c.*52G>T (n.*52G>T) | |
| 20 | g.4699584G>A | CA408152194 | PRNP | c.364G>A (p.Val122Met) c.*53G>A (n.*53G>A) | |
| 20 | g.4699584G>C | CA408152195 | PRNP | c.364G>C (p.Val122Leu) c.*53G>C (n.*53G>C) | |
| 20 | g.4699584G>T | CA408152193 | PRNP | c.364G>T (p.Val122Leu) c.*53G>T (n.*53G>T) | |
| 20 | g.4699585T>A | CA408152196 | PRNP | c.365T>A (p.Val122Glu) c.*54T>A (n.*54T>A) | |
| 20 | g.4699585T>C | CA408152197 | PRNP | c.365T>C (p.Val122Ala) c.*54T>C (n.*54T>C) | |
| 20 | g.4699585T>G | CA9752056 | PRNP | c.365T>G (p.Val122Gly) c.*54T>G (n.*54T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699585T= | CA2347156515 | PRNP | c.365T= (p.Val122=) c.*54T= (n.*54T=) | |
| 20 | g.4699586G>A | CA509567646 | PRNP | c.366G>A (p.Val122=) c.*55G>A (n.*55G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699586G>C | CA509567647 | PRNP | c.366G>C (p.Val122=) c.*55G>C (n.*55G>C) | gnomAD v4 |
| 20 | g.4699586G= | CA2347156516 | PRNP | c.366G= (p.Val122=) c.*55G= (n.*55G=) | |
| 20 | g.4699586G>T | CA9752057 | PRNP | c.366G>T (p.Val122=) c.*55G>T (n.*55G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699591dup | CA2815112097 | PRNP | c.371dup (p.Leu125ProfsTer20) c.*60dup (n.*60dup) | |
| 20 | g.4699591del | CA2651785454 | PRNP | c.371del (p.Gly124AlafsTer11) c.*60del (n.*60del) | gnomAD v4 |
| 20 | g.4699587G>A | CA408152200 | PRNP | c.367G>A (p.Gly123Arg) c.*56G>A (n.*56G>A) | COSMIC |
| 20 | g.4699587G>C | CA408152199 | PRNP | c.367G>C (p.Gly123Arg) c.*56G>C (n.*56G>C) | |
| 20 | g.4699587G>T | CA408152198 | PRNP | c.367G>T (p.Gly123Trp) c.*56G>T (n.*56G>T) | |
| 20 | g.4699588G>A | CA408152201 | PRNP | c.368G>A (p.Gly123Glu) c.*57G>A (n.*57G>A) | |
| 20 | g.4699588G>C | CA408152202 | PRNP | c.368G>C (p.Gly123Ala) c.*57G>C (n.*57G>C) | |
| 20 | g.4699588G>T | CA408152203 | PRNP | c.368G>T (p.Gly123Val) c.*57G>T (n.*57G>T) | |
| 20 | g.4699589G>A | CA509567649 | PRNP | c.369G>A (p.Gly123=) c.*58G>A (n.*58G>A) | |
| 20 | g.4699589G>C | CA509567651 | PRNP | c.369G>C (p.Gly123=) c.*58G>C (n.*58G>C) | |
| 20 | g.4699589G>T | CA509567652 | PRNP | c.369G>T (p.Gly123=) c.*58G>T (n.*58G>T) | |
| 20 | g.4699590G>A | CA408152204 | PRNP | c.370G>A (p.Gly124Ser) c.*59G>A (n.*59G>A) | |
| 20 | g.4699590G>C | CA408152205 | PRNP | c.370G>C (p.Gly124Arg) c.*59G>C (n.*59G>C) | |
| 20 | g.4699590G>T | CA408152206 | PRNP | c.370G>T (p.Gly124Cys) c.*59G>T (n.*59G>T) | |
| 20 | g.4699591G>A | CA408152209 | PRNP | c.371G>A (p.Gly124Asp) c.*60G>A (n.*60G>A) | |
| 20 | g.4699591G>C | CA408152207 | PRNP | c.371G>C (p.Gly124Ala) c.*60G>C (n.*60G>C) | |
| 20 | g.4699591G>T | CA408152208 | PRNP | c.371G>T (p.Gly124Val) c.*60G>T (n.*60G>T) | |
| 20 | g.4699592C>A | CA509567653 | PRNP | c.372C>A (p.Gly124=) c.*61C>A (n.*61C>A) | dbSNP |
| 20 | g.4699592C= | CA2347156517 | PRNP | c.372C= (p.Gly124=) c.*61C= (n.*61C=) | |
| 20 | g.4699592C>G | CA9752058 | PRNP | c.372C>G (p.Gly124=) c.*61C>G (n.*61C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699592C>T | CA509567654 | PRNP | c.372C>T (p.Gly124=) c.*61C>T (n.*61C>T) | dbSNP gnomAD v4 |
| 20 | g.4699593C>A | CA408152212 | PRNP | c.373C>A (p.Leu125Ile) c.*62C>A (n.*62C>A) | |
| 20 | g.4699593C>G | CA408152210 | PRNP | c.373C>G (p.Leu125Val) c.*62C>G (n.*62C>G) | |
| 20 | g.4699593C>T | CA408152211 | PRNP | c.373C>T (p.Leu125Phe) c.*62C>T (n.*62C>T) | COSMIC |
| 20 | g.4699594T>A | CA408152213 | PRNP | c.374T>A (p.Leu125His) c.*63T>A (n.*63T>A) | |
| 20 | g.4699594T>C | CA408152214 | PRNP | c.374T>C (p.Leu125Pro) c.*63T>C (n.*63T>C) | |
| 20 | g.4699594T>G | CA408152215 | PRNP | c.374T>G (p.Leu125Arg) c.*63T>G (n.*63T>G) | |
| 20 | g.4699595T>A | CA509567658 | PRNP | c.375T>A (p.Leu125=) c.*64T>A (n.*64T>A) | |
| 20 | g.4699595T>C | CA509567660 | PRNP | c.375T>C (p.Leu125=) c.*64T>C (n.*64T>C) | |
| 20 | g.4699595T>G | CA509567659 | PRNP | c.375T>G (p.Leu125=) c.*64T>G (n.*64T>G) | |
| 20 | g.4699596G>A | CA408152216 | PRNP | c.376G>A (p.Gly126Ser) c.*65G>A (n.*65G>A) | |
| 20 | g.4699596G>C | CA408152217 | PRNP | c.376G>C (p.Gly126Arg) c.*65G>C (n.*65G>C) | |
| 20 | g.4699596G>T | CA408152218 | PRNP | c.376G>T (p.Gly126Cys) c.*65G>T (n.*65G>T) | |
| 20 | g.4699597G>A | CA408152219 | PRNP | c.377G>A (p.Gly126Asp) c.*66G>A (n.*66G>A) | |
| 20 | g.4699597G>C | CA408152220 | PRNP | c.377G>C (p.Gly126Ala) c.*66G>C (n.*66G>C) | |
| 20 | g.4699597G>T | CA408152221 | PRNP | c.377G>T (p.Gly126Val) c.*66G>T (n.*66G>T) | |
| 20 | g.4699598C>A | CA9752059 | PRNP | c.378C>A (p.Gly126=) c.*67C>A (n.*67C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699598C= | CA2347156518 | PRNP | c.378C= (p.Gly126=) c.*67C= (n.*67C=) | |
| 20 | g.4699598C>G | CA509567664 | PRNP | c.378C>G (p.Gly126=) c.*67C>G (n.*67C>G) | dbSNP gnomAD v4 |
| 20 | g.4699598C>T | CA9752060 | PRNP | c.378C>T (p.Gly126=) c.*67C>T (n.*67C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699599G>A | CA9752061 | PRNP | c.379G>A (p.Gly127Ser) c.*68G>A (n.*68G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699599G>C | CA408152223 | PRNP | c.379G>C (p.Gly127Arg) c.*68G>C (n.*68G>C) | |
| 20 | g.4699599G= | CA2347156519 | PRNP | c.379G= (p.Gly127=) c.*68G= (n.*68G=) | |
| 20 | g.4699599G>T | CA408152222 | PRNP | c.379G>T (p.Gly127Cys) c.*68G>T (n.*68G>T) | |
| 20 | g.4699600G>A | CA408152224 | PRNP | c.380G>A (p.Gly127Asp) c.*69G>A (n.*69G>A) | |
| 20 | g.4699600G>C | CA408152225 | PRNP | c.380G>C (p.Gly127Ala) c.*69G>C (n.*69G>C) | |
| 20 | g.4699600G= | CA2347156520 | PRNP | c.380G= (p.Gly127=) c.*69G= (n.*69G=) | |
| 20 | g.4699600G>T | CA123099 | PRNP | c.380G>T (p.Gly127Val) c.*69G>T (n.*69G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699601C>A | CA509567666 | PRNP | c.381C>A (p.Gly127=) c.*70C>A (n.*70C>A) | |
| 20 | g.4699601C>G | CA509567667 | PRNP | c.381C>G (p.Gly127=) c.*70C>G (n.*70C>G) | |
| 20 | g.4699601C>T | CA311093345 | PRNP | c.381C>T (p.Gly127=) c.*70C>T (n.*70C>T) | |
| 20 | g.4699602T>A | CA408152226 | PRNP | c.382T>A (p.Tyr128Asn) c.*71T>A (n.*71T>A) | |
| 20 | g.4699602T>C | CA408152227 | PRNP | c.382T>C (p.Tyr128His) c.*71T>C (n.*71T>C) | |
| 20 | g.4699602T>G | CA408152228 | PRNP | c.382T>G (p.Tyr128Asp) c.*71T>G (n.*71T>G) | |
| 20 | g.4699603A>C | CA408152229 | PRNP | c.383A>C (p.Tyr128Ser) c.*72A>C (n.*72A>C) | |
| 20 | g.4699603A>G | CA408152230 | PRNP | c.383A>G (p.Tyr128Cys) c.*72A>G (n.*72A>G) | |
| 20 | g.4699603A>T | CA408152231 | PRNP | c.383A>T (p.Tyr128Phe) c.*72A>T (n.*72A>T) | |
| 20 | g.4699604C>A | CA408152232 | PRNP | c.384C>A (p.Tyr128Ter) c.*73C>A (n.*73C>A) | |
| 20 | g.4699604C= | CA2347156521 | PRNP | c.384C= (p.Tyr128=) c.*73C= (n.*73C=) | |
| 20 | g.4699604C>G | CA408152233 | PRNP | c.384C>G (p.Tyr128Ter) c.*73C>G (n.*73C>G) | gnomAD v4 |
| 20 | g.4699604C>T | CA9752062 | PRNP | c.384C>T (p.Tyr128=) c.*73C>T (n.*73C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699604_4699605delinsTG | CA2573157041 | PRNP | c.384_385delinsTG (p.Met129Val) c.*73_*74delinsTG (n.*73_*74delinsTG) | ClinVar |
| 20 | g.4699605A= | CA2347156522 | PRNP | c.385A= (p.Met129=) c.*74A= (n.*74A=) | |
| 20 | g.4699605A>C | CA408152235 | PRNP | c.385A>C (p.Met129Leu) c.*74A>C (n.*74A>C) | |
| 20 | g.4699605A>G | CA123088 | PRNP | c.385A>G (p.Met129Val) c.*74A>G (n.*74A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.[4699605A>G;4699752G>A] | CA034774 | PRNP | c.[385A>G;532G>A] (p.[Met129Val;Asp178Asn]) c.[*74A>G;*221G>A] (n.[*74A>G;*221G>A]) | ClinVar |
| 20 | g.4699605A>T | CA408152234 | PRNP | c.385A>T (p.Met129Leu) c.*74A>T (n.*74A>T) | |
| 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=) |