| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.4699418_4699489del | CA2651785446 | PRNP | c.198_269del (p.Gln67_Gly90del) c.109_180del (p.Ala37_Gly60del) | gnomAD v4 |
| 20 | g.4699418_4699465dup | CA1014957580 | PRNP | c.198_245dup (p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGly) c.109_156dup (p.Gly52_Thr53insAlaAlaSerTrpTrpTrpLeuGlyAlaAlaProTrpTrpTrpLeuGly) | gnomAD v3 gnomAD v4 |
| 20 | g.4699418_4699465del | CA9752022 | PRNP | c.198_245del (p.Gln67_Gly82del) c.109_156del (p.Ala37_Gly52del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699418_4699466delinsGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGA | CA2347156433 | PRNP | c.198_246delinsGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGA (p.Gly66=) c.109_157delinsGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGA (p.Ala37=) | |
| 20 | g.4699442_4699489dup | CA1014957589 | PRNP | c.222_269dup (p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGly) c.133_180dup (p.Gly60_Ser61insAlaAlaProTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGly) | gnomAD v3 gnomAD v4 |
| 20 | g.4699442_4699489del | CA9752024 | PRNP | c.222_269del (p.Gln75_Gly90del) c.133_180del (p.Ala45_Gly60del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699442_4699465dup | CA9752027 | PRNP | c.222_245dup (p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly) c.133_156dup (p.Gly52_Thr53insAlaAlaProTrpTrpTrpLeuGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699442_4699465del | CA9752028 | PRNP | c.222_245del (p.Gln75_Gly82del) c.133_156del (p.Ala45_Gly52del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699425_4699472delinsCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCT | CA2347156440 | PRNP | c.205_252delinsCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCT (p.His69=) c.116_163delinsCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCT (p.Ser39=) | |
| 20 | g.4699426_4699472del | CA634331320 | PRNP | c.206_252del (p.His69ProfsTer20) c.117_163del (p.Trp40MetfsTer25) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699442_4699466delinsGCAGCCCCATGGTGGTGGCTGGGGA | CA2347156455 | PRNP | c.222_246delinsGCAGCCCCATGGTGGTGGCTGGGGA (p.Gly74=) c.133_157delinsGCAGCCCCATGGTGGTGGCTGGGGA (p.Ala45=) | |
| 20 | g.4699448_4699471dup | CA9752031 | PRNP | c.228_251dup (p.Pro84_His85insHisGlyGlyGlyTrpGlyGlnPro) c.139_162dup (p.Ala54_Ser55insProTrpTrpTrpLeuGlyThrAla) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699448_4699471del | CA509567202 | PRNP | c.228_251del (p.His77_Pro84del) c.139_162del (p.Pro47_Ala54del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699448_4699472delinsCCATGGTGGTGGCTGGGGACAGCCT | CA2347156461 | PRNP | c.228_252delinsCCATGGTGGTGGCTGGGGACAGCCT (p.Pro76=) c.139_163delinsCCATGGTGGTGGCTGGGGACAGCCT (p.Pro47=) | |
| 20 | g.4699489_4699490insACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG | CA9752038 | PRNP | c.269_270insACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG (p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGly) c.180_181insACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG (p.Gly60_Ser61insThrAlaSerTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699466_4699489dup | CA9752037 | PRNP | c.246_269dup (p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly) c.157_180dup (p.Gly60_Ser61insThrAlaSerTrpTrpTrpLeuGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699466_4699489del | CA9752036 | PRNP | c.246_269del (p.Gln83_Gly90del) c.157_180del (p.Thr53_Gly60del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699464G>A | CA408151929 | PRNP | c.244G>A (p.Gly82Arg) c.155G>A (p.Gly52Glu) | dbSNP gnomAD v4 |
| 20 | g.4699464G>C | CA408151930 | PRNP | c.244G>C (p.Gly82Arg) c.155G>C (p.Gly52Ala) | |
| 20 | g.4699464G= | CA2347156465 | PRNP | c.244G= (p.Gly82=) c.155G= (p.Gly52=) | |
| 20 | g.4699464G>T | CA408151931 | PRNP | c.244G>T (p.Gly82Ter) c.155G>T (p.Gly52Val) | |
| 20 | g.4699465G>A | CA408151932 | PRNP | c.245G>A (p.Gly82Glu) c.156G>A (p.Gly52=) | dbSNP |
| 20 | g.4699465G>C | CA408151933 | PRNP | c.245G>C (p.Gly82Ala) c.156G>C (p.Gly52=) | |
| 20 | g.4699465G= | CA2347156466 | PRNP | c.245G= (p.Gly82=) c.156G= (p.Gly52=) | |
| 20 | g.4699465G>T | CA408151934 | PRNP | c.245G>T (p.Gly82Val) c.156G>T (p.Gly52=) | |
| 20 | g.4699465_4699471delinsGACAGCC | CA2347156467 | PRNP | c.245_251delinsGACAGCC (p.Gly82=) c.156_162delinsGACAGCC (p.Gly52=) | |
| 20 | g.4699466A= | CA2347156468 | PRNP | c.246A= (p.Gly82=) c.157A= (p.Thr53=) | |
| 20 | g.4699466A>C | CA509567242 | PRNP | c.246A>C (p.Gly82=) c.157A>C (p.Thr53Pro) | |
| 20 | g.4699466A>G | CA9752040 | PRNP | c.246A>G (p.Gly82=) c.157A>G (p.Thr53Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699466A>T | CA509567243 | PRNP | c.246A>T (p.Gly82=) c.157A>T (p.Thr53Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699466dup | CA2651785452 | PRNP | c.246dup (p.Gln83ThrfsTer22) c.157dup (p.Thr53AsnfsTer28) | gnomAD v4 |
| 20 | g.4699466_4699471del | CA634331323 | PRNP | c.246_251del (p.Gln83_Pro84del) c.157_162del (p.Thr53_Ala54del) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699467C>A | CA408151935 | PRNP | c.247C>A (p.Gln83Lys) c.158C>A (p.Thr53Lys) | |
| 20 | g.4699467C>G | CA408151936 | PRNP | c.247C>G (p.Gln83Glu) c.158C>G (p.Thr53Arg) | |
| 20 | g.4699467C>T | CA408151937 | PRNP | c.247C>T (p.Gln83Ter) c.158C>T (p.Thr53Ile) | |
| 20 | g.4699469_4699492dup | CA634331324 | PRNP | c.249_272dup (p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln) c.160_183dup (p.Ser61_Arg62insAlaSerTrpTrpTrpLeuGlySer) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699468A>C | CA408151938 | PRNP | c.248A>C (p.Gln83Pro) c.159A>C (p.Thr53=) | |
| 20 | g.4699468A>G | CA408151939 | PRNP | c.248A>G (p.Gln83Arg) c.159A>G (p.Thr53=) | |
| 20 | g.4699468A>T | CA408151940 | PRNP | c.248A>T (p.Gln83Leu) c.159A>T (p.Thr53=) | |
| 20 | g.4699468dup | CA2651785453 | PRNP | c.248dup (p.Pro84AlafsTer21) c.159dup (p.Ala54SerfsTer27) | gnomAD v4 |
| 20 | g.4699469G>A | CA311093278 | PRNP | c.249G>A (p.Gln83=) c.160G>A (p.Ala54Thr) | dbSNP COSMIC |
| 20 | g.4699469G>C | CA408151941 | PRNP | c.249G>C (p.Gln83His) c.160G>C (p.Ala54Pro) | gnomAD v4 |
| 20 | g.4699469G= | CA2347156469 | PRNP | c.249G= (p.Gln83=) c.160G= (p.Ala54=) | |
| 20 | g.4699469G>T | CA408151942 | PRNP | c.249G>T (p.Gln83His) c.160G>T (p.Ala54Ser) | |
| 20 | g.4699470C>A | CA311093281 | PRNP | c.250C>A (p.Pro84Thr) c.161C>A (p.Ala54Asp) | dbSNP |
| 20 | g.4699470C= | CA2347156470 | PRNP | c.250C= (p.Pro84=) c.161C= (p.Ala54=) | |
| 20 | g.4699470C>G | CA408151943 | PRNP | c.250C>G (p.Pro84Ala) c.161C>G (p.Ala54Gly) | |
| 20 | g.4699470C>T | CA408151944 | PRNP | c.250C>T (p.Pro84Ser) c.161C>T (p.Ala54Val) | dbSNP |
| 20 | g.4699471C>A | CA408151946 | PRNP | c.251C>A (p.Pro84His) c.162C>A (p.Ala54=) | |
| 20 | g.4699471C>G | CA408151947 | PRNP | c.251C>G (p.Pro84Arg) c.162C>G (p.Ala54=) | |
| 20 | g.4699471C>T | CA408151945 | PRNP | c.251C>T (p.Pro84Leu) c.162C>T (p.Ala54=) | gnomAD v4 |
| 20 | g.4699472T>A | CA509567250 | PRNP | c.252T>A (p.Pro84=) c.163T>A (p.Ser55Thr) | |
| 20 | g.4699472T>C | CA9752041 | PRNP | c.252T>C (p.Pro84=) c.163T>C (p.Ser55Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699472T>G | CA509567251 | PRNP | c.252T>G (p.Pro84=) c.163T>G (p.Ser55Ala) | |
| 20 | g.4699472T= | CA2347156471 | PRNP | c.252T= (p.Pro84=) c.163T= (p.Ser55=) | |
| 20 | g.4699473C>A | CA408151948 | PRNP | c.253C>A (p.His85Asn) c.164C>A (p.Ser55Ter) | |
| 20 | g.4699473C= | CA2347156472 | PRNP | c.253C= (p.His85=) c.164C= (p.Ser55=) | |
| 20 | g.4699473C>G | CA408151949 | PRNP | c.253C>G (p.His85Asp) c.164C>G (p.Ser55Ter) | |
| 20 | g.4699473C>T | CA9752042 | PRNP | c.253C>T (p.His85Tyr) c.164C>T (p.Ser55Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699473_4699476delinsCATG | CA2347156473 | PRNP | c.253_256delinsCATG (p.His85=) c.164_167delinsCATG (p.Ser55=) | |
| 20 | g.4699474A= | CA2347156474 | PRNP | c.254A= (p.His85=) c.165A= (p.Ser55=) | |
| 20 | g.4699474A>C | CA408151950 | PRNP | c.254A>C (p.His85Pro) c.165A>C (p.Ser55=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699474A>G | CA408151951 | PRNP | c.254A>G (p.His85Arg) c.165A>G (p.Ser55=) | gnomAD v4 |
| 20 | g.4699474A>T | CA408151952 | PRNP | c.254A>T (p.His85Leu) c.165A>T (p.Ser55=) | |
| 20 | g.4699474_4699476del | CA634331325 | PRNP | c.254_256del (p.His85_Gly86delinsArg) c.165_167del (p.Trp56del) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699475T>A | CA408151953 | PRNP | c.255T>A (p.His85Gln) c.166T>A (p.Trp56Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699475T>C | CA509567256 | PRNP | c.255T>C (p.His85=) c.166T>C (p.Trp56Arg) | |
| 20 | g.4699475T>G | CA408151954 | PRNP | c.255T>G (p.His85Gln) c.166T>G (p.Trp56Gly) | |
| 20 | g.4699475T= | CA2347156475 | PRNP | c.255T= (p.His85=) c.166T= (p.Trp56=) | |
| 20 | g.4699476G>A | CA408151955 | PRNP | c.256G>A (p.Gly86Ser) c.167G>A (p.Trp56Ter) | gnomAD v4 |
| 20 | g.4699476G>C | CA408151956 | PRNP | c.256G>C (p.Gly86Arg) c.167G>C (p.Trp56Ser) | |
| 20 | g.4699476G>T | CA408151957 | PRNP | c.256G>T (p.Gly86Cys) c.167G>T (p.Trp56Leu) | |
| 20 | g.4699477G>A | CA408151959 | PRNP | c.257G>A (p.Gly86Asp) c.168G>A (p.Trp56Ter) | gnomAD v4 |
| 20 | g.4699477G>C | CA408151960 | PRNP | c.257G>C (p.Gly86Ala) c.168G>C (p.Trp56Cys) | |
| 20 | g.4699477G>T | CA408151958 | PRNP | c.257G>T (p.Gly86Val) c.168G>T (p.Trp56Cys) | |
| 20 | g.4699478T>A | CA509567262 | PRNP | c.258T>A (p.Gly86=) c.169T>A (p.Trp57Arg) | |
| 20 | g.4699478T>C | CA509567261 | PRNP | c.258T>C (p.Gly86=) c.169T>C (p.Trp57Arg) | |
| 20 | g.4699478T>G | CA509567260 | PRNP | c.258T>G (p.Gly86=) c.169T>G (p.Trp57Gly) | |
| 20 | g.4699479G>A | CA408151961 | PRNP | c.259G>A (p.Gly87Ser) c.170G>A (p.Trp57Ter) | |
| 20 | g.4699479G>C | CA408151962 | PRNP | c.259G>C (p.Gly87Arg) c.170G>C (p.Trp57Ser) | COSMIC |
| 20 | g.4699479G>T | CA408151963 | PRNP | c.259G>T (p.Gly87Cys) c.170G>T (p.Trp57Leu) | |
| 20 | g.4699480G>A | CA408151964 | PRNP | c.260G>A (p.Gly87Asp) c.171G>A (p.Trp57Ter) | |
| 20 | g.4699480G>C | CA408151965 | PRNP | c.260G>C (p.Gly87Ala) c.171G>C (p.Trp57Cys) | |
| 20 | g.4699480G>T | CA408151966 | PRNP | c.260G>T (p.Gly87Val) c.171G>T (p.Trp57Cys) | |
| 20 | g.4699481T>A | CA509567265 | PRNP | c.261T>A (p.Gly87=) c.172T>A (p.Trp58Arg) | |
| 20 | g.4699481T>C | CA9752043 | PRNP | c.261T>C (p.Gly87=) c.172T>C (p.Trp58Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699481T>G | CA509567268 | PRNP | c.261T>G (p.Gly87=) c.172T>G (p.Trp58Gly) | |
| 20 | g.4699481T= | CA2347156476 | PRNP | c.261T= (p.Gly87=) c.172T= (p.Trp58=) | |
| 20 | g.4699482G>A | CA408151967 | PRNP | c.262G>A (p.Gly88Ser) c.173G>A (p.Trp58Ter) | |
| 20 | g.4699482G>C | CA408151968 | PRNP | c.262G>C (p.Gly88Arg) c.173G>C (p.Trp58Ser) | |
| 20 | g.4699482G>T | CA408151969 | PRNP | c.262G>T (p.Gly88Cys) c.173G>T (p.Trp58Leu) | |
| 20 | g.4699483G>A | CA408151970 | PRNP | c.263G>A (p.Gly88Asp) c.174G>A (p.Trp58Ter) | |
| 20 | g.4699483G>C | CA9752044 | PRNP | c.263G>C (p.Gly88Ala) c.174G>C (p.Trp58Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699483G= | CA2347156477 | PRNP | c.263G= (p.Gly88=) c.174G= (p.Trp58=) | |
| 20 | g.4699483G>T | CA408151971 | PRNP | c.263G>T (p.Gly88Val) c.174G>T (p.Trp58Cys) | gnomAD v4 |
| 20 | g.4699484C>A | CA509567270 | PRNP | c.264C>A (p.Gly88=) c.175C>A (p.Leu59Met) | |
| 20 | g.4699484C>G | CA509567271 | PRNP | c.264C>G (p.Gly88=) c.175C>G (p.Leu59Val) | |
| 20 | g.4699484C>T | CA509567272 | PRNP | c.264C>T (p.Gly88=) c.175C>T (p.Leu59=) | |
| 20 | g.4699485T>A | CA408151972 | PRNP | c.265T>A (p.Trp89Arg) c.176T>A (p.Leu59Gln) | |
| 20 | g.4699485T>C | CA408151974 | PRNP | c.265T>C (p.Trp89Arg) c.176T>C (p.Leu59Pro) | |
| 20 | g.4699485T>G | CA408151973 | PRNP | c.265T>G (p.Trp89Gly) c.176T>G (p.Leu59Arg) | |
| 20 | g.4699486G>A | CA408151975 | PRNP | c.266G>A (p.Trp89Ter) c.177G>A (p.Leu59=) | |
| 20 | g.4699486G>C | CA408151977 | PRNP | c.266G>C (p.Trp89Ser) c.177G>C (p.Leu59=) | |
| 20 | g.4699486G>T | CA408151976 | PRNP | c.266G>T (p.Trp89Leu) c.177G>T (p.Leu59=) | |
| 20 | g.4699487G>A | CA408151978 | PRNP | c.267G>A (p.Trp89Ter) c.178G>A (p.Gly60Arg) | gnomAD v4 |
| 20 | g.4699487G>C | CA408151980 | PRNP | c.267G>C (p.Trp89Cys) c.178G>C (p.Gly60Arg) | |
| 20 | g.4699487G>T | CA408151979 | PRNP | c.267G>T (p.Trp89Cys) c.178G>T (p.Gly60Trp) | |
| 20 | g.4699488G>A | CA9752045 | PRNP | c.268G>A (p.Gly90Ser) c.179G>A (p.Gly60Glu) | dbSNP ExAC |
| 20 | g.4699488G>C | CA408151981 | PRNP | c.268G>C (p.Gly90Arg) c.179G>C (p.Gly60Ala) | |
| 20 | g.4699488G= | CA2347156478 | PRNP | c.268G= (p.Gly90=) c.179G= (p.Gly60=) | |
| 20 | g.4699488G>T | CA408151982 | PRNP | c.268G>T (p.Gly90Cys) c.179G>T (p.Gly60Val) | |
| 20 | g.4699489G>A | CA408151983 | PRNP | c.269G>A (p.Gly90Asp) c.180G>A (p.Gly60=) | |
| 20 | g.4699489G>C | CA408151984 | PRNP | c.269G>C (p.Gly90Ala) c.180G>C (p.Gly60=) | |
| 20 | g.4699489G>T | CA408151985 | PRNP | c.269G>T (p.Gly90Val) c.180G>T (p.Gly60=) | gnomAD v4 |
| 20 | g.4699490T>A | CA509567278 | PRNP | c.270T>A (p.Gly90=) c.181T>A (p.Ser61Thr) | |
| 20 | g.4699490T>C | CA509567280 | PRNP | c.270T>C (p.Gly90=) c.181T>C (p.Ser61Pro) | |
| 20 | g.4699490T>G | CA509567279 | PRNP | c.270T>G (p.Gly90=) c.181T>G (p.Ser61Ala) | dbSNP |
| 20 | g.4699490T= | CA2347156479 | PRNP | c.270T= (p.Gly90=) c.181T= (p.Ser61=) | |
| 20 | g.4699491C>A | CA408151986 | PRNP | c.271C>A (p.Gln91Lys) c.182C>A (p.Ser61Ter) | gnomAD v4 |
| 20 | g.4699491C= | CA2347156480 | PRNP | c.271C= (p.Gln91=) c.182C= (p.Ser61=) | |
| 20 | g.4699491C>G | CA408151987 | PRNP | c.271C>G (p.Gln91Glu) c.182C>G (p.Ser61Ter) | dbSNP |
| 20 | g.4699491C>T | CA408151988 | PRNP | c.271C>T (p.Gln91Ter) c.182C>T (p.Ser61Leu) | gnomAD v4 |
| 20 | g.4699492A>C | CA408151989 | PRNP | c.272A>C (p.Gln91Pro) c.183A>C (p.Ser61=) | |
| 20 | g.4699492A>G | CA408151990 | PRNP | c.272A>G (p.Gln91Arg) c.183A>G (p.Ser61=) | |
| 20 | g.4699492A>T | CA408151991 | PRNP | c.272A>T (p.Gln91Leu) c.183A>T (p.Ser61=) | |
| 20 | g.4699493A>C | CA408151993 | PRNP | c.273A>C (p.Gln91His) c.184A>C (p.Arg62=) | |
| 20 | g.4699493A>G | CA509567284 | PRNP | c.273A>G (p.Gln91=) c.184A>G (p.Arg62Gly) | |
| 20 | g.4699493A>T | CA408151992 | PRNP | c.273A>T (p.Gln91His) c.184A>T (p.Arg62Trp) | |
| 20 | g.4699494G>A | CA408151994 | PRNP | c.274G>A (p.Gly92Arg) c.185G>A (p.Arg62Lys) | |
| 20 | g.4699494G>C | CA408151995 | PRNP | c.274G>C (p.Gly92Arg) c.185G>C (p.Arg62Thr) | |
| 20 | g.4699494G>T | CA408151996 | PRNP | c.274G>T (p.Gly92Ter) c.185G>T (p.Arg62Met) | |
| 20 | g.4699495del | CA2577330168 | PRNP | c.275del (p.Gly92GlufsTer18) c.186del (p.Arg63GlyfsTer?) | |
| 20 | g.4699495G>A | CA408151997 | PRNP | c.275G>A (p.Gly92Glu) c.186G>A (p.Arg62=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.4699495G>C | CA408151998 | PRNP | c.275G>C (p.Gly92Ala) c.186G>C (p.Arg62Ser) | |
| 20 | g.4699495G= | CA2347156481 | PRNP | c.275G= (p.Gly92=) c.186G= (p.Arg62=) | |
| 20 | g.4699495G>T | CA408151999 | PRNP | c.275G>T (p.Gly92Val) c.186G>T (p.Arg62Ser) | |
| 20 | g.4699496A>C | CA509567289 | PRNP | c.276A>C (p.Gly92=) c.187A>C (p.Arg63=) | |
| 20 | g.4699496A>G | CA509567291 | PRNP | c.276A>G (p.Gly92=) c.187A>G (p.Arg63Gly) | |
| 20 | g.4699496A>T | CA509567290 | PRNP | c.276A>T (p.Gly92=) c.187A>T (p.Arg63Trp) | gnomAD v4 |
| 20 | g.4699497G>A | CA311093293 | PRNP | c.277G>A (p.Gly93Ser) c.188G>A (p.Arg63Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699497G>C | CA408152000 | PRNP | c.277G>C (p.Gly93Arg) c.188G>C (p.Arg63Thr) | |
| 20 | g.4699497G= | CA2347156482 | PRNP | c.277G= (p.Gly93=) c.188G= (p.Arg63=) | |
| 20 | g.4699497G>T | CA408152001 | PRNP | c.277G>T (p.Gly93Cys) c.188G>T (p.Arg63Met) | |
| 20 | g.4699498G>A | CA408152002 | PRNP | c.278G>A (p.Gly93Asp) c.189G>A (p.Arg63=) | ClinVar COSMIC |
| 20 | g.4699498G>C | CA408152003 | PRNP | c.278G>C (p.Gly93Ala) c.189G>C (p.Arg63Ser) | |
| 20 | g.4699498G>T | CA408152004 | PRNP | c.278G>T (p.Gly93Val) c.189G>T (p.Arg63Ser) | |
| 20 | g.4699499T>A | CA509567296 | PRNP | c.279T>A (p.Gly93=) c.190T>A (p.Trp64Arg) | |
| 20 | g.4699499T>C | CA509567298 | PRNP | c.279T>C (p.Gly93=) c.190T>C (p.Trp64Arg) | |
| 20 | g.4699499T>G | CA9752046 | PRNP | c.279T>G (p.Gly93=) c.190T>G (p.Trp64Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699499T= | CA2347156483 | PRNP | c.279T= (p.Gly93=) c.190T= (p.Trp64=) | |
| 20 | g.4699500G>A | CA408152007 | PRNP | c.280G>A (p.Gly94Ser) c.191G>A (p.Trp64Ter) | gnomAD v4 |
| 20 | g.4699500G>C | CA408152005 | PRNP | c.280G>C (p.Gly94Arg) c.191G>C (p.Trp64Ser) | |
| 20 | g.4699500G>T | CA408152006 | PRNP | c.280G>T (p.Gly94Cys) c.191G>T (p.Trp64Leu) | |
| 20 | g.4699500_4699503del | CA2577330170 | PRNP | c.280_283del (p.Gly94ProfsTer15) c.191_194del (p.Trp64SerfsTer?) | |
| 20 | g.4699501G>A | CA408152008 | PRNP | c.281G>A (p.Gly94Asp) c.192G>A (p.Trp64Ter) | |
| 20 | g.4699501G>C | CA408152009 | PRNP | c.281G>C (p.Gly94Ala) c.192G>C (p.Trp64Cys) | |
| 20 | g.4699501G>T | CA408152010 | PRNP | c.281G>T (p.Gly94Val) c.192G>T (p.Trp64Cys) | |
| 20 | g.4699502C>A | CA509567302 | PRNP | c.282C>A (p.Gly94=) c.193C>A (p.His65Asn) | |
| 20 | g.4699502C>G | CA509567303 | PRNP | c.282C>G (p.Gly94=) c.193C>G (p.His65Asp) | |
| 20 | g.4699502C>T | CA509567304 | PRNP | c.282C>T (p.Gly94=) c.193C>T (p.His65Tyr) | |
| 20 | g.4699503A>C | CA408152011 | PRNP | c.283A>C (p.Thr95Pro) c.194A>C (p.His65Pro) | |
| 20 | g.4699503A>G | CA408152012 | PRNP | c.283A>G (p.Thr95Ala) c.194A>G (p.His65Arg) | |
| 20 | g.4699503A>T | CA408152013 | PRNP | c.283A>T (p.Thr95Ser) c.194A>T (p.His65Leu) | |
| 20 | g.4699504C>A | CA408152014 | PRNP | c.284C>A (p.Thr95Asn) c.195C>A (p.His65Gln) | |
| 20 | g.4699504C>G | CA408152015 | PRNP | c.284C>G (p.Thr95Ser) c.195C>G (p.His65Gln) | |
| 20 | g.4699504C>T | CA408152016 | PRNP | c.284C>T (p.Thr95Ile) c.195C>T (p.His65=) | |
| 20 | g.4699505C>A | CA509567306 | PRNP | c.285C>A (p.Thr95=) c.196C>A (p.Pro66Thr) | |
| 20 | g.4699505C= | CA2347156484 | PRNP | c.285C= (p.Thr95=) c.196C= (p.Pro66=) | |
| 20 | g.4699505C>G | CA509567307 | PRNP | c.285C>G (p.Thr95=) c.196C>G (p.Pro66Ala) | |
| 20 | g.4699505C>T | CA9752047 | PRNP | c.285C>T (p.Thr95=) c.196C>T (p.Pro66Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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) |