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.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=) | |
| 20 | g.4699607G>A | CA408152238 | PRNP | c.387G>A (p.Met129Ile) c.*76G>A (n.*76G>A) | gnomAD v4 |
| 20 | g.4699607G>C | CA408152239 | PRNP | c.387G>C (p.Met129Ile) c.*76G>C (n.*76G>C) | |
| 20 | g.4699607G>T | CA408152240 | PRNP | c.387G>T (p.Met129Ile) c.*76G>T (n.*76G>T) | |
| 20 | g.4699608C>A | CA408152241 | PRNP | c.388C>A (p.Leu130Met) c.*77C>A (n.*77C>A) | |
| 20 | g.4699608C>G | CA408152242 | PRNP | c.388C>G (p.Leu130Val) c.*77C>G (n.*77C>G) | |
| 20 | g.4699608C>T | CA509567676 | PRNP | c.388C>T (p.Leu130=) c.*77C>T (n.*77C>T) | |
| 20 | g.4699609T>A | CA408152243 | PRNP | c.389T>A (p.Leu130Gln) c.*78T>A (n.*78T>A) | |
| 20 | g.4699609T>C | CA408152244 | PRNP | c.389T>C (p.Leu130Pro) c.*78T>C (n.*78T>C) | gnomAD v4 |
| 20 | g.4699609T>G | CA408152245 | PRNP | c.389T>G (p.Leu130Arg) c.*78T>G (n.*78T>G) | |
| 20 | g.4699610G>A | CA509567677 | PRNP | c.390G>A (p.Leu130=) c.*79G>A (n.*79G>A) | dbSNP |
| 20 | g.4699610G>C | CA509567678 | PRNP | c.390G>C (p.Leu130=) c.*79G>C (n.*79G>C) | |
| 20 | g.4699610G= | CA2347156524 | PRNP | c.390G= (p.Leu130=) c.*79G= (n.*79G=) | |
| 20 | g.4699610G>T | CA509567679 | PRNP | c.390G>T (p.Leu130=) c.*79G>T (n.*79G>T) | gnomAD v4 |
| 20 | g.4699611G>A | CA311093355 | PRNP | c.391G>A (p.Gly131Arg) c.*80G>A (n.*80G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699611G>C | CA408152246 | PRNP | c.391G>C (p.Gly131Arg) c.*80G>C (n.*80G>C) | |
| 20 | g.4699611G= | CA2347156525 | PRNP | c.391G= (p.Gly131=) c.*80G= (n.*80G=) | |
| 20 | g.4699611G>T | CA9752064 | PRNP | c.391G>T (p.Gly131Ter) c.*80G>T (n.*80G>T) | dbSNP ExAC gnomAD v2 |
| 20 | g.4699612G>A | CA408152247 | PRNP | c.392G>A (p.Gly131Glu) c.*81G>A (n.*81G>A) | ClinVar dbSNP |
| 20 | g.4699612G>C | CA408152248 | PRNP | c.392G>C (p.Gly131Ala) c.*81G>C (n.*81G>C) | |
| 20 | g.4699612G= | CA2347156526 | PRNP | c.392G= (p.Gly131=) c.*81G= (n.*81G=) | |
| 20 | g.4699612G>T | CA256784 | PRNP | c.392G>T (p.Gly131Val) c.*81G>T (n.*81G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.4699613A= | CA2347156527 | PRNP | c.393A= (p.Gly131=) c.*82A= (n.*82A=) | |
| 20 | g.4699613A>C | CA509567683 | PRNP | c.393A>C (p.Gly131=) c.*82A>C (n.*82A>C) | |
| 20 | g.4699613A>G | CA9752065 | PRNP | c.393A>G (p.Gly131=) c.*82A>G (n.*82A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699613A>T | CA509567686 | PRNP | c.393A>T (p.Gly131=) c.*82A>T (n.*82A>T) | |
| 20 | g.4699614A>C | CA408152249 | PRNP | c.394A>C (p.Ser132Arg) c.*83A>C (n.*83A>C) | |
| 20 | g.4699614A>G | CA408152250 | PRNP | c.394A>G (p.Ser132Gly) c.*83A>G (n.*83A>G) | |
| 20 | g.4699614A>T | CA408152251 | PRNP | c.394A>T (p.Ser132Cys) c.*83A>T (n.*83A>T) | |
| 20 | g.4699615G>A | CA408152252 | PRNP | c.395G>A (p.Ser132Asn) c.*84G>A (n.*84G>A) | |
| 20 | g.4699615G>C | CA408152253 | PRNP | c.395G>C (p.Ser132Thr) c.*84G>C (n.*84G>C) | |
| 20 | g.4699615G>T | CA408152254 | PRNP | c.395G>T (p.Ser132Ile) c.*84G>T (n.*84G>T) | COSMIC |
| 20 | g.4699616T>A | CA408152255 | PRNP | c.396T>A (p.Ser132Arg) c.*85T>A (n.*85T>A) | |
| 20 | g.4699616T>C | CA9752066 | PRNP | c.396T>C (p.Ser132=) c.*85T>C (n.*85T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699616T>G | CA408152256 | PRNP | c.396T>G (p.Ser132Arg) c.*85T>G (n.*85T>G) | |
| 20 | g.4699616T= | CA2347156528 | PRNP | c.396T= (p.Ser132=) c.*85T= (n.*85T=) | |
| 20 | g.4699617G>A | CA408152259 | PRNP | c.397G>A (p.Ala133Thr) c.*86G>A (n.*86G>A) | |
| 20 | g.4699617G>C | CA408152258 | PRNP | c.397G>C (p.Ala133Pro) c.*86G>C (n.*86G>C) | |
| 20 | g.4699617G>T | CA408152257 | PRNP | c.397G>T (p.Ala133Ser) c.*86G>T (n.*86G>T) | |
| 20 | g.4699618C>A | CA408152261 | PRNP | c.398C>A (p.Ala133Asp) c.*87C>A (n.*87C>A) | |
| 20 | g.4699618C= | CA2347156529 | PRNP | c.398C= (p.Ala133=) c.*87C= (n.*87C=) | |
| 20 | g.4699618C>G | CA408152260 | PRNP | c.398C>G (p.Ala133Gly) c.*87C>G (n.*87C>G) | |
| 20 | g.4699618C>T | CA256786 | PRNP | c.398C>T (p.Ala133Val) c.*87C>T (n.*87C>T) | ClinVar dbSNP |
| 20 | g.4699619C>A | CA509567692 | PRNP | c.399C>A (p.Ala133=) c.*88C>A (n.*88C>A) | |
| 20 | g.4699619C>G | CA509567693 | PRNP | c.399C>G (p.Ala133=) c.*88C>G (n.*88C>G) | |
| 20 | g.4699619C>T | CA509567694 | PRNP | c.399C>T (p.Ala133=) c.*88C>T (n.*88C>T) | |
| 20 | g.4699620A>C | CA408152262 | PRNP | c.400A>C (p.Met134Leu) c.*89A>C (n.*89A>C) | gnomAD v4 |
| 20 | g.4699620A>G | CA408152263 | PRNP | c.400A>G (p.Met134Val) c.*89A>G (n.*89A>G) | gnomAD v4 |
| 20 | g.4699620A>T | CA408152264 | PRNP | c.400A>T (p.Met134Leu) c.*89A>T (n.*89A>T) | |
| 20 | g.4699621T>A | CA408152267 | PRNP | c.401T>A (p.Met134Lys) c.*90T>A (n.*90T>A) | |
| 20 | g.4699621T>C | CA408152266 | PRNP | c.401T>C (p.Met134Thr) c.*90T>C (n.*90T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699621T>G | CA408152265 | PRNP | c.401T>G (p.Met134Arg) c.*90T>G (n.*90T>G) | gnomAD v4 |
| 20 | g.4699621T= | CA2347156530 | PRNP | c.401T= (p.Met134=) c.*90T= (n.*90T=) | |
| 20 | g.4699622G>A | CA408152268 | PRNP | c.402G>A (p.Met134Ile) c.*91G>A (n.*91G>A) | |
| 20 | g.4699622G>C | CA408152269 | PRNP | c.402G>C (p.Met134Ile) c.*91G>C (n.*91G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699622G= | CA2347156531 | PRNP | c.402G= (p.Met134=) c.*91G= (n.*91G=) | |
| 20 | g.4699622G>T | CA408152270 | PRNP | c.402G>T (p.Met134Ile) c.*91G>T (n.*91G>T) | |
| 20 | g.4699623A>C | CA408152271 | PRNP | c.403A>C (p.Ser135Arg) c.*92A>C (n.*92A>C) | |
| 20 | g.4699623A>G | CA408152272 | PRNP | c.403A>G (p.Ser135Gly) c.*92A>G (n.*92A>G) | |
| 20 | g.4699623A>T | CA408152273 | PRNP | c.403A>T (p.Ser135Cys) c.*92A>T (n.*92A>T) | |
| 20 | g.4699624G>A | CA408152276 | PRNP | c.404G>A (p.Ser135Asn) c.*93G>A (n.*93G>A) | |
| 20 | g.4699624G>C | CA408152274 | PRNP | c.404G>C (p.Ser135Thr) c.*93G>C (n.*93G>C) | |
| 20 | g.4699624G>T | CA408152275 | PRNP | c.404G>T (p.Ser135Ile) c.*93G>T (n.*93G>T) | |
| 20 | g.4699625C>A | CA408152277 | PRNP | c.405C>A (p.Ser135Arg) c.*94C>A (n.*94C>A) | |
| 20 | g.4699625C>G | CA408152278 | PRNP | c.405C>G (p.Ser135Arg) c.*94C>G (n.*94C>G) | |
| 20 | g.4699625C>T | CA509567698 | PRNP | c.405C>T (p.Ser135=) c.*94C>T (n.*94C>T) | |
| 20 | g.4699626A= | CA2347156532 | PRNP | c.406A= (p.Arg136=) c.*95A= (n.*95A=) | |
| 20 | g.4699626A>C | CA509567699 | PRNP | c.406A>C (p.Arg136=) c.*95A>C (n.*95A>C) | |
| 20 | g.4699626A>G | CA408152279 | PRNP | c.406A>G (p.Arg136Gly) c.*95A>G (n.*95A>G) | |
| 20 | g.4699626A>T | CA311093364 | PRNP | c.406A>T (p.Arg136Trp) c.*95A>T (n.*95A>T) | dbSNP |
| 20 | g.4699627G>A | CA311093366 | PRNP | c.407G>A (p.Arg136Lys) c.*96G>A (n.*96G>A) | dbSNP |
| 20 | g.4699627G>C | CA311093368 | PRNP | c.407G>C (p.Arg136Thr) c.*96G>C (n.*96G>C) | ClinVar dbSNP gnomAD v4 |
| 20 | g.4699627G= | CA2347156533 | PRNP | c.407G= (p.Arg136=) c.*96G= (n.*96G=) | |
| 20 | g.4699627G>T | CA408152280 | PRNP | c.407G>T (p.Arg136Met) c.*96G>T (n.*96G>T) | |
| 20 | g.4699628dup | CA2651785455 | PRNP | c.408dup (p.Pro137AlafsTer8) c.*97dup (n.*97dup) | gnomAD v4 |
| 20 | g.4699628G>A | CA9752068 | PRNP | c.408G>A (p.Arg136=) c.*97G>A (n.*97G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699628G>C | CA408152281 | PRNP | c.408G>C (p.Arg136Ser) c.*97G>C (n.*97G>C) | |
| 20 | g.4699628G= | CA2347156534 | PRNP | c.408G= (p.Arg136=) c.*97G= (n.*97G=) | |
| 20 | g.4699628G>T | CA9752067 | PRNP | c.408G>T (p.Arg136Ser) c.*97G>T (n.*97G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699629C>A | CA408152282 | PRNP | c.409C>A (p.Pro137Thr) c.*98C>A (n.*98C>A) | |
| 20 | g.4699629C>G | CA408152283 | PRNP | c.409C>G (p.Pro137Ala) c.*98C>G (n.*98C>G) | |
| 20 | g.4699629C>T | CA408152284 | PRNP | c.409C>T (p.Pro137Ser) c.*98C>T (n.*98C>T) | |
| 20 | g.4699630C>A | CA408152285 | PRNP | c.410C>A (p.Pro137His) c.*99C>A (n.*99C>A) | |
| 20 | g.4699630C>G | CA408152287 | PRNP | c.410C>G (p.Pro137Arg) c.*99C>G (n.*99C>G) | |
| 20 | g.4699630C>T | CA408152286 | PRNP | c.410C>T (p.Pro137Leu) c.*99C>T (n.*99C>T) | gnomAD v4 |
| 20 | g.4699631C>A | CA509567707 | PRNP | c.411C>A (p.Pro137=) c.*100C>A (n.*100C>A) | |
| 20 | g.4699631C>G | CA509567709 | PRNP | c.411C>G (p.Pro137=) c.*100C>G (n.*100C>G) | |
| 20 | g.4699631C>T | CA509567710 | PRNP | c.411C>T (p.Pro137=) c.*100C>T (n.*100C>T) | gnomAD v4 |
| 20 | g.4699632A= | CA2347156535 | PRNP | c.412A= (p.Ile138=) c.*101A= (n.*101A=) | |
| 20 | g.4699632A>C | CA408152288 | PRNP | c.412A>C (p.Ile138Leu) c.*101A>C (n.*101A>C) | dbSNP |
| 20 | g.4699632A>G | CA408152289 | PRNP | c.412A>G (p.Ile138Val) c.*101A>G (n.*101A>G) | |
| 20 | g.4699632A>T | CA408152290 | PRNP | c.412A>T (p.Ile138Phe) c.*101A>T (n.*101A>T) | |
| 20 | g.4699633T>A | CA408152291 | PRNP | c.413T>A (p.Ile138Asn) c.*102T>A (n.*102T>A) | |
| 20 | g.4699633T>C | CA9752069 | PRNP | c.413T>C (p.Ile138Thr) c.*102T>C (n.*102T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699633T>G | CA408152292 | PRNP | c.413T>G (p.Ile138Ser) c.*102T>G (n.*102T>G) | |
| 20 | g.4699633T= | CA2347156536 | PRNP | c.413T= (p.Ile138=) c.*102T= (n.*102T=) |