| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.4699300A>C | CA408151584 | PRNP | c.80A>C (p.Lys27Thr) c.-10A>C (n.-10A>C) | |
| 20 | g.4699300A>G | CA408151585 | PRNP | c.80A>G (p.Lys27Arg) c.-10A>G (n.-10A>G) | |
| 20 | g.4699300A>T | CA408151583 | PRNP | c.80A>T (p.Lys27Met) c.-10A>T (n.-10A>T) | |
| 20 | g.4699301G>A | CA509567566 | PRNP | c.81G>A (p.Lys27=) c.-9G>A (n.-9G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699301G>C | CA408151586 | PRNP | c.81G>C (p.Lys27Asn) c.-9G>C (n.-9G>C) | |
| 20 | g.4699301G= | CA2347156379 | PRNP | c.81G= (p.Lys27=) c.-9G= (n.-9G=) | |
| 20 | g.4699301G>T | CA408151587 | PRNP | c.81G>T (p.Lys27Asn) c.-9G>T (n.-9G>T) | |
| 20 | g.4699302C>A | CA408151588 | PRNP | c.82C>A (p.Pro28Thr) c.-8C>A (n.-8C>A) | dbSNP gnomAD v4 |
| 20 | g.4699302C= | CA2347156380 | PRNP | c.82C= (p.Pro28=) c.-8C= (n.-8C=) | |
| 20 | g.4699302C>G | CA408151589 | PRNP | c.82C>G (p.Pro28Ala) c.-8C>G (n.-8C>G) | gnomAD v4 |
| 20 | g.4699302C>T | CA408151590 | PRNP | c.82C>T (p.Pro28Ser) c.-8C>T (n.-8C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699303C>A | CA311093179 | PRNP | c.83C>A (p.Pro28His) c.-7C>A (n.-7C>A) | dbSNP |
| 20 | g.4699303C= | CA2347156381 | PRNP | c.83C= (p.Pro28=) c.-7C= (n.-7C=) | |
| 20 | g.4699303C>G | CA408151591 | PRNP | c.83C>G (p.Pro28Arg) c.-7C>G (n.-7C>G) | |
| 20 | g.4699303C>T | CA408151592 | PRNP | c.83C>T (p.Pro28Leu) c.-7C>T (n.-7C>T) | gnomAD v4 |
| 20 | g.4699304T>A | CA509567567 | PRNP | c.84T>A (p.Pro28=) c.-6T>A (n.-6T>A) | |
| 20 | g.4699304T>C | CA509567568 | PRNP | c.84T>C (p.Pro28=) c.-6T>C (n.-6T>C) | |
| 20 | g.4699304T>G | CA509567569 | PRNP | c.84T>G (p.Pro28=) c.-6T>G (n.-6T>G) | |
| 20 | g.4699305G>A | CA408151593 | PRNP | c.85G>A (p.Gly29Arg) c.-5G>A (n.-5G>A) | |
| 20 | g.4699305G>C | CA408151594 | PRNP | c.85G>C (p.Gly29Arg) c.-5G>C (n.-5G>C) | |
| 20 | g.4699305G>T | CA408151595 | PRNP | c.85G>T (p.Gly29Ter) c.-5G>T (n.-5G>T) | |
| 20 | g.4699306G>A | CA311093181 | PRNP | c.86G>A (p.Gly29Glu) c.-4G>A (n.-4G>A) | ClinVar dbSNP |
| 20 | g.4699306G>C | CA408151596 | PRNP | c.86G>C (p.Gly29Ala) c.-4G>C (n.-4G>C) | |
| 20 | g.4699306G= | CA2347156382 | PRNP | c.86G= (p.Gly29=) c.-4G= (n.-4G=) | |
| 20 | g.4699306G>T | CA408151597 | PRNP | c.86G>T (p.Gly29Val) c.-4G>T (n.-4G>T) | |
| 20 | g.4699307A>C | CA509567570 | PRNP | c.87A>C (p.Gly29=) c.-3A>C (n.-3A>C) | |
| 20 | g.4699307A>G | CA509567571 | PRNP | c.87A>G (p.Gly29=) c.-3A>G (n.-3A>G) | |
| 20 | g.4699307A>T | CA509567572 | PRNP | c.87A>T (p.Gly29=) c.-3A>T (n.-3A>T) | |
| 20 | g.4699308G>A | CA408151600 | PRNP | c.88G>A (p.Gly30Arg) c.-2G>A (n.-2G>A) | |
| 20 | g.4699308G>C | CA408151599 | PRNP | c.88G>C (p.Gly30Arg) c.-2G>C (n.-2G>C) | |
| 20 | g.4699308G>T | CA408151598 | PRNP | c.88G>T (p.Gly30Ter) c.-2G>T (n.-2G>T) | |
| 20 | g.4699309G>A | CA408151601 | PRNP | c.89G>A (p.Gly30Glu) c.-1G>A (n.-1G>A) | |
| 20 | g.4699309G>C | CA408151602 | PRNP | c.89G>C (p.Gly30Ala) c.-1G>C (n.-1G>C) | |
| 20 | g.4699309G>T | CA408151603 | PRNP | c.89G>T (p.Gly30Val) c.-1G>T (n.-1G>T) | |
| 20 | g.4699310A>C | CA509567573 | PRNP | c.90A>C (p.Gly30=) c.1A>C (p.Met1Leu) | |
| 20 | g.4699310A>G | CA509567574 | PRNP | c.90A>G (p.Gly30=) c.1A>G (p.Met1Val) | |
| 20 | g.4699310A>T | CA509567575 | PRNP | c.90A>T (p.Gly30=) c.1A>T (p.Met1Leu) | |
| 20 | g.4699311T>A | CA408151604 | PRNP | c.91T>A (p.Trp31Arg) c.2T>A (p.Met1Lys) | gnomAD v4 |
| 20 | g.4699311T>C | CA408151605 | PRNP | c.91T>C (p.Trp31Arg) c.2T>C (p.Met1Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699311T>G | CA408151606 | PRNP | c.91T>G (p.Trp31Gly) c.2T>G (p.Met1Arg) | |
| 20 | g.4699311T= | CA2347156383 | PRNP | c.91T= (p.Trp31=) c.2T= (p.Met1=) | |
| 20 | g.4699312G>A | CA408151607 | PRNP | c.92G>A (p.Trp31Ter) c.3G>A (p.Met1Ile) | gnomAD v4 |
| 20 | g.4699312G>C | CA408151608 | PRNP | c.92G>C (p.Trp31Ser) c.3G>C (p.Met1Ile) | |
| 20 | g.4699312G>T | CA408151609 | PRNP | c.92G>T (p.Trp31Leu) c.3G>T (p.Met1Ile) | |
| 20 | g.4699313G>A | CA408151610 | PRNP | c.93G>A (p.Trp31Ter) c.4G>A (p.Glu2Lys) | |
| 20 | g.4699313G>C | CA408151611 | PRNP | c.93G>C (p.Trp31Cys) c.4G>C (p.Glu2Gln) | |
| 20 | g.4699313G>T | CA408151612 | PRNP | c.93G>T (p.Trp31Cys) c.4G>T (p.Glu2Ter) | |
| 20 | g.4699314A>C | CA408151615 | PRNP | c.94A>C (p.Asn32His) c.5A>C (p.Glu2Ala) | |
| 20 | g.4699314A>G | CA408151614 | PRNP | c.94A>G (p.Asn32Asp) c.5A>G (p.Glu2Gly) | |
| 20 | g.4699314A>T | CA408151613 | PRNP | c.94A>T (p.Asn32Tyr) c.5A>T (p.Glu2Val) | |
| 20 | g.4699315A= | CA2347156384 | PRNP | c.95A= (p.Asn32=) c.6A= (p.Glu2=) | |
| 20 | g.4699315A>C | CA408151616 | PRNP | c.95A>C (p.Asn32Thr) c.6A>C (p.Glu2Asp) | |
| 20 | g.4699315A>G | CA408151617 | PRNP | c.95A>G (p.Asn32Ser) c.6A>G (p.Glu2=) | |
| 20 | g.4699315A>T | CA408151618 | PRNP | c.95A>T (p.Asn32Ile) c.6A>T (p.Glu2Asp) | dbSNP |
| 20 | g.4699316C>A | CA408151619 | PRNP | c.96C>A (p.Asn32Lys) c.7C>A (p.His3Asn) | |
| 20 | g.4699316C>G | CA408151620 | PRNP | c.96C>G (p.Asn32Lys) c.7C>G (p.His3Asp) | |
| 20 | g.4699316C>T | CA509567576 | PRNP | c.96C>T (p.Asn32=) c.7C>T (p.His3Tyr) | |
| 20 | g.4699317A= | CA2347156385 | PRNP | c.97A= (p.Thr33=) c.8A= (p.His3=) | |
| 20 | g.4699317A>C | CA9752004 | PRNP | c.97A>C (p.Thr33Pro) c.8A>C (p.His3Pro) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 20 | g.4699317A>G | CA408151621 | PRNP | c.97A>G (p.Thr33Ala) c.8A>G (p.His3Arg) | |
| 20 | g.4699317A>T | CA9752005 | PRNP | c.97A>T (p.Thr33Ser) c.8A>T (p.His3Leu) | dbSNP ExAC |
| 20 | g.4699318C>A | CA408151622 | PRNP | c.98C>A (p.Thr33Asn) c.9C>A (p.His3Gln) | |
| 20 | g.4699318C>G | CA408151623 | PRNP | c.98C>G (p.Thr33Ser) c.9C>G (p.His3Gln) | |
| 20 | g.4699318C>T | CA408151624 | PRNP | c.98C>T (p.Thr33Ile) c.9C>T (p.His3=) | gnomAD v4 |
| 20 | g.4699319T>A | CA509567577 | PRNP | c.99T>A (p.Thr33=) c.10T>A (p.Trp4Arg) | |
| 20 | g.4699319T>C | CA509567578 | PRNP | c.99T>C (p.Thr33=) c.10T>C (p.Trp4Arg) | gnomAD v4 |
| 20 | g.4699319T>G | CA9752006 | PRNP | c.99T>G (p.Thr33=) c.10T>G (p.Trp4Gly) | dbSNP ExAC |
| 20 | g.4699319T= | CA2347156386 | PRNP | c.99T= (p.Thr33=) c.10T= (p.Trp4=) | |
| 20 | g.4699320G>A | CA408151626 | PRNP | c.100G>A (p.Gly34Arg) c.11G>A (p.Trp4Ter) | gnomAD v4 |
| 20 | g.4699320G>C | CA408151627 | PRNP | c.100G>C (p.Gly34Arg) c.11G>C (p.Trp4Ser) | |
| 20 | g.4699320G= | CA2347156387 | PRNP | c.100G= (p.Gly34=) c.11G= (p.Trp4=) | |
| 20 | g.4699320G>T | CA408151625 | PRNP | c.100G>T (p.Gly34Trp) c.11G>T (p.Trp4Leu) | |
| 20 | g.4699324del | CA2651785444 | PRNP | c.104del (p.Gly35AlafsTer?) c.15del (p.Gln6SerfsTer?) | gnomAD v4 |
| 20 | g.4699321G>A | CA408151628 | PRNP | c.101G>A (p.Gly34Glu) c.12G>A (p.Trp4Ter) | |
| 20 | g.4699321G>C | CA408151629 | PRNP | c.101G>C (p.Gly34Ala) c.12G>C (p.Trp4Cys) | dbSNP gnomAD v4 |
| 20 | g.4699321G= | CA2347156388 | PRNP | c.101G= (p.Gly34=) c.12G= (p.Trp4=) | |
| 20 | g.4699321G>T | CA9752008 | PRNP | c.101G>T (p.Gly34Val) c.12G>T (p.Trp4Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699321_4699341dup | CA9752007 | PRNP | c.101_121dup (p.Gly40_Gln41insArgGlySerArgTyrProGly) c.12_32dup (p.Ala11_Gly12insGlyGlnProIleProGlyAla) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699322G>A | CA509567579 | PRNP | c.102G>A (p.Gly34=) c.13G>A (p.Gly5Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699322G>C | CA509567580 | PRNP | c.102G>C (p.Gly34=) c.13G>C (p.Gly5Arg) | dbSNP |
| 20 | g.4699322G= | CA2347156389 | PRNP | c.102G= (p.Gly34=) c.13G= (p.Gly5=) | |
| 20 | g.4699322G>T | CA509567581 | PRNP | c.102G>T (p.Gly34=) c.13G>T (p.Gly5Trp) | |
| 20 | g.4699323G>A | CA9752009 | PRNP | c.103G>A (p.Gly35Ser) c.14G>A (p.Gly5Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699323G>C | CA408151631 | PRNP | c.103G>C (p.Gly35Arg) c.14G>C (p.Gly5Ala) | |
| 20 | g.4699323G= | CA2347156390 | PRNP | c.103G= (p.Gly35=) c.14G= (p.Gly5=) | |
| 20 | g.4699323G>T | CA408151630 | PRNP | c.103G>T (p.Gly35Cys) c.14G>T (p.Gly5Val) | |
| 20 | g.4699324G>A | CA408151632 | PRNP | c.104G>A (p.Gly35Asp) c.15G>A (p.Gly5=) | gnomAD v4 COSMIC |
| 20 | g.4699324G>C | CA9752010 | PRNP | c.104G>C (p.Gly35Ala) c.15G>C (p.Gly5=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699324G= | CA2347156391 | PRNP | c.104G= (p.Gly35=) c.15G= (p.Gly5=) | |
| 20 | g.4699324G>T | CA408151633 | PRNP | c.104G>T (p.Gly35Val) c.15G>T (p.Gly5=) | |
| 20 | g.4699325C>A | CA509567582 | PRNP | c.105C>A (p.Gly35=) c.16C>A (p.Gln6Lys) | |
| 20 | g.4699325C>G | CA509567583 | PRNP | c.105C>G (p.Gly35=) c.16C>G (p.Gln6Glu) | |
| 20 | g.4699325C>T | CA509567584 | PRNP | c.105C>T (p.Gly35=) c.16C>T (p.Gln6Ter) | gnomAD v4 |
| 20 | g.4699326A>C | CA408151634 | PRNP | c.106A>C (p.Ser36Arg) c.17A>C (p.Gln6Pro) | |
| 20 | g.4699326A>G | CA408151635 | PRNP | c.106A>G (p.Ser36Gly) c.17A>G (p.Gln6Arg) | |
| 20 | g.4699326A>T | CA408151636 | PRNP | c.106A>T (p.Ser36Cys) c.17A>T (p.Gln6Leu) | |
| 20 | g.4699327G>A | CA408151637 | PRNP | c.107G>A (p.Ser36Asn) c.18G>A (p.Gln6=) | |
| 20 | g.4699327G>C | CA408151639 | PRNP | c.107G>C (p.Ser36Thr) c.18G>C (p.Gln6His) | |
| 20 | g.4699327G>T | CA408151638 | PRNP | c.107G>T (p.Ser36Ile) c.18G>T (p.Gln6His) | |
| 20 | g.4699328C>A | CA408151640 | PRNP | c.108C>A (p.Ser36Arg) c.19C>A (p.Pro7Thr) | |
| 20 | g.4699328C>G | CA408151641 | PRNP | c.108C>G (p.Ser36Arg) c.19C>G (p.Pro7Ala) | |
| 20 | g.4699328C>T | CA509567585 | PRNP | c.108C>T (p.Ser36=) c.19C>T (p.Pro7Ser) | |
| 20 | g.4699329C>A | CA311093200 | PRNP | c.109C>A (p.Arg37=) c.20C>A (p.Pro7Gln) | dbSNP |
| 20 | g.4699329C= | CA2347156392 | PRNP | c.109C= (p.Arg37=) c.20C= (p.Pro7=) | |
| 20 | g.4699329C>G | CA408151642 | PRNP | c.109C>G (p.Arg37Gly) c.20C>G (p.Pro7Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699329C>T | CA9752011 | PRNP | c.109C>T (p.Arg37Ter) c.20C>T (p.Pro7Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699330G>A | CA408151643 | PRNP | c.110G>A (p.Arg37Gln) c.21G>A (p.Pro7=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699330G>C | CA408151644 | PRNP | c.110G>C (p.Arg37Pro) c.21G>C (p.Pro7=) | gnomAD v4 |
| 20 | g.4699330G= | CA2347156393 | PRNP | c.110G= (p.Arg37=) c.21G= (p.Pro7=) | |
| 20 | g.4699330G>T | CA408151645 | PRNP | c.110G>T (p.Arg37Leu) c.21G>T (p.Pro7=) | |
| 20 | g.4699331A>C | CA509567586 | PRNP | c.111A>C (p.Arg37=) c.22A>C (p.Ile8Leu) | |
| 20 | g.4699331A>G | CA509567587 | PRNP | c.111A>G (p.Arg37=) c.22A>G (p.Ile8Val) | |
| 20 | g.4699331A>T | CA509567588 | PRNP | c.111A>T (p.Arg37=) c.22A>T (p.Ile8Leu) | |
| 20 | g.4699332T>A | CA408151646 | PRNP | c.112T>A (p.Tyr38Asn) c.23T>A (p.Ile8Lys) | gnomAD v4 |
| 20 | g.4699332T>C | CA408151647 | PRNP | c.112T>C (p.Tyr38His) c.23T>C (p.Ile8Thr) | |
| 20 | g.4699332T>G | CA408151648 | PRNP | c.112T>G (p.Tyr38Asp) c.23T>G (p.Ile8Arg) | |
| 20 | g.4699333A>C | CA408151649 | PRNP | c.113A>C (p.Tyr38Ser) c.24A>C (p.Ile8=) | |
| 20 | g.4699333A>G | CA408151650 | PRNP | c.113A>G (p.Tyr38Cys) c.24A>G (p.Ile8Met) | |
| 20 | g.4699333A>T | CA408151651 | PRNP | c.113A>T (p.Tyr38Phe) c.24A>T (p.Ile8=) | |
| 20 | g.4699334C>A | CA408151652 | PRNP | c.114C>A (p.Tyr38Ter) c.25C>A (p.Pro9Thr) | |
| 20 | g.4699334C>G | CA408151653 | PRNP | c.114C>G (p.Tyr38Ter) c.25C>G (p.Pro9Ala) | |
| 20 | g.4699334C>T | CA509567589 | PRNP | c.114C>T (p.Tyr38=) c.25C>T (p.Pro9Ser) | gnomAD v4 |
| 20 | g.4699335C>A | CA311093204 | PRNP | c.115C>A (p.Pro39Thr) c.26C>A (p.Pro9His) | dbSNP |
| 20 | g.4699335C= | CA2347156394 | PRNP | c.115C= (p.Pro39=) c.26C= (p.Pro9=) | |
| 20 | g.4699335C>G | CA408151654 | PRNP | c.115C>G (p.Pro39Ala) c.26C>G (p.Pro9Arg) | gnomAD v4 |
| 20 | g.4699335C>T | CA311093206 | PRNP | c.115C>T (p.Pro39Ser) c.26C>T (p.Pro9Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699336C>A | CA408151655 | PRNP | c.116C>A (p.Pro39Gln) c.27C>A (p.Pro9=) | gnomAD v4 |
| 20 | g.4699336C= | CA2347156395 | PRNP | c.116C= (p.Pro39=) c.27C= (p.Pro9=) | |
| 20 | g.4699336C>G | CA408151656 | PRNP | c.116C>G (p.Pro39Arg) c.27C>G (p.Pro9=) | |
| 20 | g.4699336C>T | CA9752012 | PRNP | c.116C>T (p.Pro39Leu) c.27C>T (p.Pro9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699337G>A | CA9752013 | PRNP | c.117G>A (p.Pro39=) c.28G>A (p.Gly10Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699337G>C | CA509567591 | PRNP | c.117G>C (p.Pro39=) c.28G>C (p.Gly10Arg) | |
| 20 | g.4699337G= | CA2347156396 | PRNP | c.117G= (p.Pro39=) c.28G= (p.Gly10=) | |
| 20 | g.4699337G>T | CA509567590 | PRNP | c.117G>T (p.Pro39=) c.28G>T (p.Gly10Trp) | |
| 20 | g.4699338G>A | CA408151657 | PRNP | c.118G>A (p.Gly40Arg) c.29G>A (p.Gly10Glu) | |
| 20 | g.4699338G>C | CA408151658 | PRNP | c.118G>C (p.Gly40Arg) c.29G>C (p.Gly10Ala) | |
| 20 | g.4699338G>T | CA408151659 | PRNP | c.118G>T (p.Gly40Trp) c.29G>T (p.Gly10Val) | |
| 20 | g.4699339G>A | CA408151660 | PRNP | c.119G>A (p.Gly40Glu) c.30G>A (p.Gly10=) | |
| 20 | g.4699339G>C | CA408151661 | PRNP | c.119G>C (p.Gly40Ala) c.30G>C (p.Gly10=) | |
| 20 | g.4699339G>T | CA408151662 | PRNP | c.119G>T (p.Gly40Val) c.30G>T (p.Gly10=) | |
| 20 | g.4699340G>A | CA9752014 | PRNP | c.120G>A (p.Gly40=) c.31G>A (p.Ala11Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699340G>C | CA509567593 | PRNP | c.120G>C (p.Gly40=) c.31G>C (p.Ala11Pro) | |
| 20 | g.4699340G= | CA2347156397 | PRNP | c.120G= (p.Gly40=) c.31G= (p.Ala11=) | |
| 20 | g.4699340G>T | CA509567592 | PRNP | c.120G>T (p.Gly40=) c.31G>T (p.Ala11Ser) | |
| 20 | g.4699341C>A | CA408151664 | PRNP | c.121C>A (p.Gln41Lys) c.32C>A (p.Ala11Glu) | |
| 20 | g.4699341C= | CA2347156398 | PRNP | c.121C= (p.Gln41=) c.32C= (p.Ala11=) | |
| 20 | g.4699341C>G | CA408151665 | PRNP | c.121C>G (p.Gln41Glu) c.32C>G (p.Ala11Gly) | |
| 20 | g.4699341C>T | CA408151663 | PRNP | c.121C>T (p.Gln41Ter) c.32C>T (p.Ala11Val) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699342A>C | CA408151666 | PRNP | c.122A>C (p.Gln41Pro) c.33A>C (p.Ala11=) | |
| 20 | g.4699342A>G | CA408151667 | PRNP | c.122A>G (p.Gln41Arg) c.33A>G (p.Ala11=) | |
| 20 | g.4699342A>T | CA408151668 | PRNP | c.122A>T (p.Gln41Leu) c.33A>T (p.Ala11=) | |
| 20 | g.4699343G>A | CA509567594 | PRNP | c.123G>A (p.Gln41=) c.34G>A (p.Gly12Arg) | |
| 20 | g.4699343G>C | CA408151669 | PRNP | c.123G>C (p.Gln41His) c.34G>C (p.Gly12Arg) | |
| 20 | g.4699343G>T | CA408151670 | PRNP | c.123G>T (p.Gln41His) c.34G>T (p.Gly12Trp) | |
| 20 | g.4699344G>A | CA408151673 | PRNP | c.124G>A (p.Gly42Ser) c.35G>A (p.Gly12Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699344G>C | CA408151672 | PRNP | c.124G>C (p.Gly42Arg) c.35G>C (p.Gly12Ala) | |
| 20 | g.4699344G= | CA2347156399 | PRNP | c.124G= (p.Gly42=) c.35G= (p.Gly12=) | |
| 20 | g.4699344G>T | CA408151671 | PRNP | c.124G>T (p.Gly42Cys) c.35G>T (p.Gly12Val) | |
| 20 | g.4699345G>A | CA9752015 | PRNP | c.125G>A (p.Gly42Asp) c.36G>A (p.Gly12=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699345G>C | CA408151674 | PRNP | c.125G>C (p.Gly42Ala) c.36G>C (p.Gly12=) | |
| 20 | g.4699345G= | CA2347156400 | PRNP | c.125G= (p.Gly42=) c.36G= (p.Gly12=) | |
| 20 | g.4699345G>T | CA408151675 | PRNP | c.125G>T (p.Gly42Val) c.36G>T (p.Gly12=) | |
| 20 | g.4699346del | CA2577330161 | PRNP | c.126del (p.Ser43AlafsTer?) c.37del (p.Gln13SerfsTer?) | |
| 20 | g.4699346C>A | CA509567595 | PRNP | c.126C>A (p.Gly42=) c.37C>A (p.Gln13Lys) | gnomAD v4 |
| 20 | g.4699346C>G | CA509567596 | PRNP | c.126C>G (p.Gly42=) c.37C>G (p.Gln13Glu) | |
| 20 | g.4699346C>T | CA509567597 | PRNP | c.126C>T (p.Gly42=) c.37C>T (p.Gln13Ter) | |
| 20 | g.4699347A>C | CA408151676 | PRNP | c.127A>C (p.Ser43Arg) c.38A>C (p.Gln13Pro) | |
| 20 | g.4699347A>G | CA408151677 | PRNP | c.127A>G (p.Ser43Gly) c.38A>G (p.Gln13Arg) | |
| 20 | g.4699347A>T | CA408151678 | PRNP | c.127A>T (p.Ser43Cys) c.38A>T (p.Gln13Leu) | |
| 20 | g.4699348G>A | CA408151679 | PRNP | c.128G>A (p.Ser43Asn) c.39G>A (p.Gln13=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699348G>C | CA408151681 | PRNP | c.128G>C (p.Ser43Thr) c.39G>C (p.Gln13His) | |
| 20 | g.4699348G= | CA2347156401 | PRNP | c.128G= (p.Ser43=) c.39G= (p.Gln13=) | |
| 20 | g.4699348G>T | CA408151680 | PRNP | c.128G>T (p.Ser43Ile) c.39G>T (p.Gln13His) | |
| 20 | g.4699349C>A | CA408151682 | PRNP | c.129C>A (p.Ser43Arg) c.40C>A (p.Pro14Thr) | |
| 20 | g.4699349C>G | CA408151683 | PRNP | c.129C>G (p.Ser43Arg) c.40C>G (p.Pro14Ala) | |
| 20 | g.4699349C>T | CA509567598 | PRNP | c.129C>T (p.Ser43=) c.40C>T (p.Pro14Ser) | |
| 20 | g.4699350C>A | CA408151684 | PRNP | c.130C>A (p.Pro44Thr) c.41C>A (p.Pro14His) | |
| 20 | g.4699350C= | CA2347156402 | PRNP | c.130C= (p.Pro44=) c.41C= (p.Pro14=) | |
| 20 | g.4699350C>G | CA408151685 | PRNP | c.130C>G (p.Pro44Ala) c.41C>G (p.Pro14Arg) | |
| 20 | g.4699350C>T | CA311093214 | PRNP | c.130C>T (p.Pro44Ser) c.41C>T (p.Pro14Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699351C>A | CA408151686 | PRNP | c.131C>A (p.Pro44His) c.42C>A (p.Pro14=) | |
| 20 | g.4699351C= | CA2347156403 | PRNP | c.131C= (p.Pro44=) c.42C= (p.Pro14=) | |
| 20 | g.4699351C>G | CA408151687 | PRNP | c.131C>G (p.Pro44Arg) c.42C>G (p.Pro14=) | |
| 20 | g.4699351C>T | CA408151688 | PRNP | c.131C>T (p.Pro44Leu) c.42C>T (p.Pro14=) | dbSNP |
| 20 | g.4699352T>A | CA509567599 | PRNP | c.132T>A (p.Pro44=) c.43T>A (p.Trp15Arg) | |
| 20 | g.4699352T>C | CA509567600 | PRNP | c.132T>C (p.Pro44=) c.43T>C (p.Trp15Arg) | |
| 20 | g.4699352T>G | CA509567601 | PRNP | c.132T>G (p.Pro44=) c.43T>G (p.Trp15Gly) | |
| 20 | g.4699353G>A | CA408151689 | PRNP | c.133G>A (p.Gly45Arg) c.44G>A (p.Trp15Ter) | |
| 20 | g.4699353G>C | CA408151690 | PRNP | c.133G>C (p.Gly45Arg) c.44G>C (p.Trp15Ser) | |
| 20 | g.4699353G>T | CA408151691 | PRNP | c.133G>T (p.Gly45Ter) c.44G>T (p.Trp15Leu) | |
| 20 | g.4699354G>A | CA408151694 | PRNP | c.134G>A (p.Gly45Glu) c.45G>A (p.Trp15Ter) | |
| 20 | g.4699354G>C | CA408151693 | PRNP | c.134G>C (p.Gly45Ala) c.45G>C (p.Trp15Cys) | |
| 20 | g.4699354G>T | CA408151692 | PRNP | c.134G>T (p.Gly45Val) c.45G>T (p.Trp15Cys) | |
| 20 | g.4699355A>C | CA509567605 | PRNP | c.135A>C (p.Gly45=) c.46A>C (p.Arg16=) | |
| 20 | g.4699355A>G | CA509567606 | PRNP | c.135A>G (p.Gly45=) c.46A>G (p.Arg16Gly) | |
| 20 | g.4699355A>T | CA509567607 | PRNP | c.135A>T (p.Gly45=) c.46A>T (p.Arg16Trp) | |
| 20 | g.4699356G>A | CA408151695 | PRNP | c.136G>A (p.Gly46Ser) c.47G>A (p.Arg16Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699356G>C | CA408151697 | PRNP | c.136G>C (p.Gly46Arg) c.47G>C (p.Arg16Thr) | |
| 20 | g.4699356G= | CA2347156404 | PRNP | c.136G= (p.Gly46=) c.47G= (p.Arg16=) | |
| 20 | g.4699356G>T | CA408151696 | PRNP | c.136G>T (p.Gly46Cys) c.47G>T (p.Arg16Met) | |
| 20 | g.4699357G>A | CA408151698 | PRNP | c.137G>A (p.Gly46Asp) c.48G>A (p.Arg16=) | |
| 20 | g.4699357G>C | CA408151699 | PRNP | c.137G>C (p.Gly46Ala) c.48G>C (p.Arg16Ser) | |
| 20 | g.4699357G>T | CA408151700 | PRNP | c.137G>T (p.Gly46Val) c.48G>T (p.Arg16Ser) | |
| 20 | g.4699358C>A | CA509567610 | PRNP | c.138C>A (p.Gly46=) c.49C>A (p.Gln17Lys) | |
| 20 | g.4699358C>G | CA509567611 | PRNP | c.138C>G (p.Gly46=) c.49C>G (p.Gln17Glu) | |
| 20 | g.4699358C>T | CA509567612 | PRNP | c.138C>T (p.Gly46=) c.49C>T (p.Gln17Ter) | ClinVar gnomAD v4 |
| 20 | g.4699359A= | CA2347156405 | PRNP | c.139A= (p.Asn47=) c.50A= (p.Gln17=) | |
| 20 | g.4699359A>C | CA408151701 | PRNP | c.139A>C (p.Asn47His) c.50A>C (p.Gln17Pro) | |
| 20 | g.4699359A>G | CA9752016 | PRNP | c.139A>G (p.Asn47Asp) c.50A>G (p.Gln17Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699359A>T | CA408151702 | PRNP | c.139A>T (p.Asn47Tyr) c.50A>T (p.Gln17Leu) | |
| 20 | g.4699360A>C | CA408151703 | PRNP | c.140A>C (p.Asn47Thr) c.51A>C (p.Gln17His) | |
| 20 | g.4699360A>G | CA408151704 | PRNP | c.140A>G (p.Asn47Ser) c.51A>G (p.Gln17=) | |
| 20 | g.4699360A>T | CA408151705 | PRNP | c.140A>T (p.Asn47Ile) c.51A>T (p.Gln17His) | |
| 20 | g.4699361C>A | CA408151706 | PRNP | c.141C>A (p.Asn47Lys) c.52C>A (p.Pro18Thr) | |
| 20 | g.4699361C>G | CA408151707 | PRNP | c.141C>G (p.Asn47Lys) c.52C>G (p.Pro18Ala) | |
| 20 | g.4699361C>T | CA509567614 | PRNP | c.141C>T (p.Asn47=) c.52C>T (p.Pro18Ser) | gnomAD v4 |
| 20 | g.4699362C>A | CA311093218 | PRNP | c.142C>A (p.Arg48Ser) c.53C>A (p.Pro18Gln) | dbSNP |
| 20 | g.4699362C= | CA2347156406 | PRNP | c.142C= (p.Arg48=) c.53C= (p.Pro18=) | |
| 20 | g.4699362C>G | CA408151708 | PRNP | c.142C>G (p.Arg48Gly) c.53C>G (p.Pro18Arg) | |
| 20 | g.4699362C>T | CA408151709 | PRNP | c.142C>T (p.Arg48Cys) c.53C>T (p.Pro18Leu) | dbSNP gnomAD v4 |
| 20 | g.4699363G>A | CA311093220 | PRNP | c.143G>A (p.Arg48His) c.54G>A (p.Pro18=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699363G>C | CA408151710 | PRNP | c.143G>C (p.Arg48Pro) c.54G>C (p.Pro18=) | |
| 20 | g.4699363G= | CA2347156407 | PRNP | c.143G= (p.Arg48=) c.54G= (p.Pro18=) | |
| 20 | g.4699363G>T | CA408151711 | PRNP | c.143G>T (p.Arg48Leu) c.54G>T (p.Pro18=) | |
| 20 | g.4699364C>A | CA509567617 | PRNP | c.144C>A (p.Arg48=) c.55C>A (p.Leu19Ile) | |
| 20 | g.4699364C>G | CA509567618 | PRNP | c.144C>G (p.Arg48=) c.55C>G (p.Leu19Val) | |
| 20 | g.4699364C>T | CA509567620 | PRNP | c.144C>T (p.Arg48=) c.55C>T (p.Leu19=) | |
| 20 | g.4699365T>A | CA408151712 | PRNP | c.145T>A (p.Tyr49Asn) c.56T>A (p.Leu19Gln) | |
| 20 | g.4699365T>C | CA408151713 | PRNP | c.145T>C (p.Tyr49His) c.56T>C (p.Leu19Pro) | gnomAD v4 |
| 20 | g.4699365T>G | CA408151714 | PRNP | c.145T>G (p.Tyr49Asp) c.56T>G (p.Leu19Arg) | |
| 20 | g.4699366A>C | CA408151715 | PRNP | c.146A>C (p.Tyr49Ser) c.57A>C (p.Leu19=) | |
| 20 | g.4699366A>G | CA408151716 | PRNP | c.146A>G (p.Tyr49Cys) c.57A>G (p.Leu19=) | |
| 20 | g.4699366A>T | CA408151717 | PRNP | c.146A>T (p.Tyr49Phe) c.57A>T (p.Leu19=) | |
| 20 | g.4699367C>A | CA408151718 | PRNP | c.147C>A (p.Tyr49Ter) c.58C>A (p.Pro20Thr) | |
| 20 | g.4699367C>G | CA408151719 | PRNP | c.147C>G (p.Tyr49Ter) c.58C>G (p.Pro20Ala) | gnomAD v4 |
| 20 | g.4699367C>T | CA509567622 | PRNP | c.147C>T (p.Tyr49=) c.58C>T (p.Pro20Ser) | gnomAD v4 |
| 20 | g.4699368C>A | CA408151721 | PRNP | c.148C>A (p.Pro50Thr) c.59C>A (p.Pro20His) | |
| 20 | g.4699368C>G | CA408151722 | PRNP | c.148C>G (p.Pro50Ala) c.59C>G (p.Pro20Arg) | |
| 20 | g.4699368C>T | CA408151720 | PRNP | c.148C>T (p.Pro50Ser) c.59C>T (p.Pro20Leu) | |
| 20 | g.4699369C>A | CA408151723 | PRNP | c.149C>A (p.Pro50Gln) c.60C>A (p.Pro20=) | |
| 20 | g.4699369C= | CA2347156408 | PRNP | c.149C= (p.Pro50=) c.60C= (p.Pro20=) | |
| 20 | g.4699369C>G | CA408151724 | PRNP | c.149C>G (p.Pro50Arg) c.60C>G (p.Pro20=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699369C>T | CA408151725 | PRNP | c.149C>T (p.Pro50Leu) c.60C>T (p.Pro20=) | dbSNP |
| 20 | g.4699370A>C | CA509567627 | PRNP | c.150A>C (p.Pro50=) c.61A>C (p.Thr21Pro) | |
| 20 | g.4699370A>G | CA509567625 | PRNP | c.150A>G (p.Pro50=) c.61A>G (p.Thr21Ala) | |
| 20 | g.4699370A>T | CA509567626 | PRNP | c.150A>T (p.Pro50=) c.61A>T (p.Thr21Ser) | |
| 20 | g.4699371C>A | CA408151726 | PRNP | c.151C>A (p.Pro51Thr) c.62C>A (p.Thr21Asn) | |
| 20 | g.4699371C= | CA2347156409 | PRNP | c.151C= (p.Pro51=) c.62C= (p.Thr21=) | |
| 20 | g.4699371C>G | CA408151727 | PRNP | c.151C>G (p.Pro51Ala) c.62C>G (p.Thr21Ser) | |
| 20 | g.4699371C>T | CA311093222 | PRNP | c.151C>T (p.Pro51Ser) c.62C>T (p.Thr21Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699372C>A | CA408151728 | PRNP | c.152C>A (p.Pro51His) c.63C>A (p.Thr21=) | |
| 20 | g.4699372C>G | CA408151729 | PRNP | c.152C>G (p.Pro51Arg) c.63C>G (p.Thr21=) | |
| 20 | g.4699372C>T | CA408151730 | PRNP | c.152C>T (p.Pro51Leu) c.63C>T (p.Thr21=) | |
| 20 | g.4699372_4699373insAAACACACCCAAC | CA2815112093 | PRNP | c.152_153insAAACACACCCAAC (p.Gln52AsnfsTer?) c.63_64insAAACACACCCAAC (p.Ser22LysfsTer?) | |
| 20 | g.4699373T>A | CA509567633 | PRNP | c.153T>A (p.Pro51=) c.64T>A (p.Ser22Thr) | |
| 20 | g.4699373T>C | CA509567632 | PRNP | c.153T>C (p.Pro51=) c.64T>C (p.Ser22Pro) | |
| 20 | g.4699373T>G | CA509567631 | PRNP | c.153T>G (p.Pro51=) c.64T>G (p.Ser22Ala) | |
| 20 | g.4699373T= | CA2347156410 | PRNP | c.153T= (p.Pro51=) c.64T= (p.Ser22=) | |
| 20 | g.4699374C>A | CA408151731 | PRNP | c.154C>A (p.Gln52Lys) c.65C>A (p.Ser22Ter) | |
| 20 | g.4699374C>G | CA408151732 | PRNP | c.154C>G (p.Gln52Glu) c.65C>G (p.Ser22Ter) | |
| 20 | g.4699374C>T | CA408151733 | PRNP | c.154C>T (p.Gln52Ter) c.65C>T (p.Ser22Leu) | |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156054 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156053 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156061 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156058 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156059 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156057 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156056 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156055 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699375A= | CA2347156411 | PRNP | c.155A= (p.Gln52=) c.66A= (p.Ser22=) | |
| 20 | g.4699375A>C | CA408151735 | PRNP | c.155A>C (p.Gln52Pro) c.66A>C (p.Ser22=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699375A>G | CA408151736 | PRNP | c.155A>G (p.Gln52Arg) c.66A>G (p.Ser22=) | |
| 20 | g.4699375A>T | CA408151734 | PRNP | c.155A>T (p.Gln52Leu) c.66A>T (p.Ser22=) | |
| 20 | g.4699376G>A | CA509567637 | PRNP | c.156G>A (p.Gln52=) c.67G>A (p.Gly23Arg) | |
| 20 | g.4699376G>C | CA408151737 | PRNP | c.156G>C (p.Gln52His) c.67G>C (p.Gly23Arg) | |
| 20 | g.4699376G>T | CA408151738 | PRNP | c.156G>T (p.Gln52His) c.67G>T (p.Gly23Trp) | |
| 20 | g.4699377G>A | CA408151739 | PRNP | c.157G>A (p.Gly53Ser) c.68G>A (p.Gly23Glu) | |
| 20 | g.4699377G>C | CA408151740 | PRNP | c.157G>C (p.Gly53Arg) c.68G>C (p.Gly23Ala) | |
| 20 | g.4699377G>T | CA408151741 | PRNP | c.157G>T (p.Gly53Cys) c.68G>T (p.Gly23Val) | |
| 20 | g.4699378G>A | CA408151744 | PRNP | c.158G>A (p.Gly53Asp) c.69G>A (p.Gly23=) | |
| 20 | g.4699378G>C | CA408151742 | PRNP | c.158G>C (p.Gly53Ala) c.69G>C (p.Gly23=) | |
| 20 | g.4699378G= | CA2347156412 | PRNP | c.158G= (p.Gly53=) c.69G= (p.Gly23=) | |
| 20 | g.4699378G>T | CA408151743 | PRNP | c.158G>T (p.Gly53Val) c.69G>T (p.Gly23=) | dbSNP gnomAD v2 |
| 20 | g.4699379C>A | CA509567641 | PRNP | c.159C>A (p.Gly53=) c.70C>A (p.Arg24=) | |
| 20 | g.4699379C= | CA2347156414 | PRNP | c.159C= (p.Gly53=) c.70C= (p.Arg24=) | |
| 20 | g.4699379C>G | CA509567642 | PRNP | c.159C>G (p.Gly53=) c.70C>G (p.Arg24Gly) | |
| 20 | g.4699379C>T | CA9752017 | PRNP | c.159C>T (p.Gly53=) c.70C>T (p.Arg24Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699379_4699427delinsCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT | CA2347156413 | PRNP | c.159_207delinsCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT (p.Gly53=) c.70_118delinsCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT (p.Arg24=) | |
| 20 | g.4699380G>A | CA9752018 | PRNP | c.160G>A (p.Gly54Ser) c.71G>A (p.Arg24Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699380G>C | CA408151745 | PRNP | c.160G>C (p.Gly54Arg) c.71G>C (p.Arg24Pro) | |
| 20 | g.4699380G= | CA2347156415 | PRNP | c.160G= (p.Gly54=) c.71G= (p.Arg24=) | |
| 20 | g.4699380G>T | CA408151746 | PRNP | c.160G>T (p.Gly54Cys) c.71G>T (p.Arg24Leu) | |
| 20 | g.4699447_4699448insTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | CA2580614990 | PRNP | c.227_228insTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Pro76_His77insHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnPro) c.138_139insTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Ala46_Pro47insSerTrpTrpTrpLeuGlyAlaAlaProTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAla) | |
| 20 | g.4699447_4699448insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | CA915953085 | PRNP | c.227_228insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Pro76_His77insHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnPro) c.138_139insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Ala46_Pro47insSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaProTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAla) | dbSNP |
| 20 | g.4699424_4699447dup | CA634331357 | PRNP | c.204_227dup (p.Pro76_His77insHisGlyGlyGlyTrpGlyGlnPro) c.115_138dup (p.Ala46_Pro47insSerTrpTrpTrpLeuGlyAlaAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699400_4699447dup | CA634331358 | PRNP | c.180_227dup (p.Pro76_His77insHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnPro) c.91_138dup (p.Ala46_Pro47insSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699424_4699447del | CA344807 | PRNP | c.204_227del (p.His69_Pro76del) c.115_138del (p.Ser39_Ala46del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699400_4699447del | CA634331356 | PRNP | c.180_227del (p.His61_Pro76del) c.91_138del (p.Ser31_Ala46del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699381G>A | CA408151749 | PRNP | c.161G>A (p.Gly54Asp) c.72G>A (p.Arg24=) | |
| 20 | g.4699381G>C | CA408151748 | PRNP | c.161G>C (p.Gly54Ala) c.72G>C (p.Arg24=) | |
| 20 | g.4699381G= | CA2347156416 | PRNP | c.161G= (p.Gly54=) c.72G= (p.Arg24=) | |
| 20 | g.4699381G>T | CA408151747 | PRNP | c.161G>T (p.Gly54Val) c.72G>T (p.Arg24=) | dbSNP |
| 20 | g.4699382T>A | CA509567650 | PRNP | c.162T>A (p.Gly54=) c.73T>A (p.Trp25Arg) | |
| 20 | g.4699382T>C | CA9752019 | PRNP | c.162T>C (p.Gly54=) c.73T>C (p.Trp25Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699382T>G | CA509567648 | PRNP | c.162T>G (p.Gly54=) c.73T>G (p.Trp25Gly) | |
| 20 | g.4699382T= | CA2347156417 | PRNP | c.162T= (p.Gly54=) c.73T= (p.Trp25=) | |
| 20 | g.4699383G>A | CA408151752 | PRNP | c.163G>A (p.Gly55Ser) c.74G>A (p.Trp25Ter) | |
| 20 | g.4699383G>C | CA408151751 | PRNP | c.163G>C (p.Gly55Arg) c.74G>C (p.Trp25Ser) | |
| 20 | g.4699383G>T | CA408151750 | PRNP | c.163G>T (p.Gly55Cys) c.74G>T (p.Trp25Leu) | |
| 20 | g.4699384G>A | CA408151755 | PRNP | c.164G>A (p.Gly55Asp) c.75G>A (p.Trp25Ter) | |
| 20 | g.4699384G>C | CA408151754 | PRNP | c.164G>C (p.Gly55Ala) c.75G>C (p.Trp25Cys) | |
| 20 | g.4699384G>T | CA408151753 | PRNP | c.164G>T (p.Gly55Val) c.75G>T (p.Trp25Cys) | |
| 20 | g.4699385T>A | CA509567657 | PRNP | c.165T>A (p.Gly55=) c.76T>A (p.Trp26Arg) | |
| 20 | g.4699385T>C | CA509567655 | PRNP | c.165T>C (p.Gly55=) c.76T>C (p.Trp26Arg) | |
| 20 | g.4699385T>G | CA509567656 | PRNP | c.165T>G (p.Gly55=) c.76T>G (p.Trp26Gly) | |
| 20 | g.4699386G>A | CA408151756 | PRNP | c.166G>A (p.Gly56Ser) c.77G>A (p.Trp26Ter) | |
| 20 | g.4699386G>C | CA408151757 | PRNP | c.166G>C (p.Gly56Arg) c.77G>C (p.Trp26Ser) | |
| 20 | g.4699386G>T | CA408151758 | PRNP | c.166G>T (p.Gly56Cys) c.77G>T (p.Trp26Leu) | |
| 20 | g.4699387G>A | CA408151759 | PRNP | c.167G>A (p.Gly56Asp) c.78G>A (p.Trp26Ter) | |
| 20 | g.4699387G>C | CA408151760 | PRNP | c.167G>C (p.Gly56Ala) c.78G>C (p.Trp26Cys) | |
| 20 | g.4699387G>T | CA408151761 | PRNP | c.167G>T (p.Gly56Val) c.78G>T (p.Trp26Cys) | |
| 20 | g.4699388C>A | CA509567661 | PRNP | c.168C>A (p.Gly56=) c.79C>A (p.Leu27Met) | |
| 20 | g.4699388C= | CA2347156418 | PRNP | c.168C= (p.Gly56=) c.79C= (p.Leu27=) | |
| 20 | g.4699388C>G | CA509567662 | PRNP | c.168C>G (p.Gly56=) c.79C>G (p.Leu27Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699388C>T | CA509567663 | PRNP | c.168C>T (p.Gly56=) c.79C>T (p.Leu27=) | gnomAD v4 |
| 20 | g.4699389T>A | CA408151762 | PRNP | c.169T>A (p.Trp57Arg) c.80T>A (p.Leu27Gln) | |
| 20 | g.4699389T>C | CA408151763 | PRNP | c.169T>C (p.Trp57Arg) c.80T>C (p.Leu27Pro) | |
| 20 | g.4699389T>G | CA408151764 | PRNP | c.169T>G (p.Trp57Gly) c.80T>G (p.Leu27Arg) | |
| 20 | g.4699390G>A | CA408151765 | PRNP | c.170G>A (p.Trp57Ter) c.81G>A (p.Leu27=) | |
| 20 | g.4699390G>C | CA408151766 | PRNP | c.170G>C (p.Trp57Ser) c.81G>C (p.Leu27=) | |
| 20 | g.4699390G>T | CA408151767 | PRNP | c.170G>T (p.Trp57Leu) c.81G>T (p.Leu27=) | |
| 20 | g.4699394del | CA2651785445 | PRNP | c.174del (p.Gln59SerfsTer?) c.85del (p.Ala29GlnfsTer?) | gnomAD v4 |
| 20 | g.4699391G>A | CA408151768 | PRNP | c.171G>A (p.Trp57Ter) c.82G>A (p.Gly28Arg) | dbSNP |
| 20 | g.4699391G>C | CA408151770 | PRNP | c.171G>C (p.Trp57Cys) c.82G>C (p.Gly28Arg) | |
| 20 | g.4699391G= | CA2347156419 | PRNP | c.171G= (p.Trp57=) c.82G= (p.Gly28=) | |
| 20 | g.4699391G>T | CA408151769 | PRNP | c.171G>T (p.Trp57Cys) c.82G>T (p.Gly28Trp) | |
| 20 | g.4699392G>A | CA408151771 | PRNP | c.172G>A (p.Gly58Arg) c.83G>A (p.Gly28Glu) | gnomAD v4 |
| 20 | g.4699392G>C | CA408151772 | PRNP | c.172G>C (p.Gly58Arg) c.83G>C (p.Gly28Ala) | |
| 20 | g.4699392G= | CA2347156420 | PRNP | c.172G= (p.Gly58=) c.83G= (p.Gly28=) | |
| 20 | g.4699392G>T | CA9752020 | PRNP | c.172G>T (p.Gly58Trp) c.83G>T (p.Gly28Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699393G>A | CA408151773 | PRNP | c.173G>A (p.Gly58Glu) c.84G>A (p.Gly28=) | |
| 20 | g.4699393G>C | CA408151774 | PRNP | c.173G>C (p.Gly58Ala) c.84G>C (p.Gly28=) | |
| 20 | g.4699393G>T | CA408151775 | PRNP | c.173G>T (p.Gly58Val) c.84G>T (p.Gly28=) | |
| 20 | g.4699394G>A | CA509567672 | PRNP | c.174G>A (p.Gly58=) c.85G>A (p.Ala29Thr) | dbSNP gnomAD v4 |
| 20 | g.4699394G>C | CA509567670 | PRNP | c.174G>C (p.Gly58=) c.85G>C (p.Ala29Pro) | |
| 20 | g.4699394G= | CA2347156421 | PRNP | c.174G= (p.Gly58=) c.85G= (p.Ala29=) | |
| 20 | g.4699394G>T | CA509567669 | PRNP | c.174G>T (p.Gly58=) c.85G>T (p.Ala29Ser) | dbSNP gnomAD v4 |
| 20 | g.4699395C>A | CA408151776 | PRNP | c.175C>A (p.Gln59Lys) c.86C>A (p.Ala29Glu) | dbSNP |
| 20 | g.4699395C= | CA2347156422 | PRNP | c.175C= (p.Gln59=) c.86C= (p.Ala29=) | |
| 20 | g.4699395C>G | CA408151777 | PRNP | c.175C>G (p.Gln59Glu) c.86C>G (p.Ala29Gly) | |
| 20 | g.4699395C>T | CA408151778 | PRNP | c.175C>T (p.Gln59Ter) c.86C>T (p.Ala29Val) | |
| 20 | g.4699423_4699424insCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCC | CA2815112094 | PRNP | c.203_204insCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Pro68_His69insHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnPro) c.114_115insCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Ala38_Ser39insProTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGlyAlaAla) | |
| 20 | g.4699418_4699489del | CA2651785446 | PRNP | c.198_269del (p.Gln67_Gly90del) c.109_180del (p.Ala37_Gly60del) | gnomAD v4 |
| 20 | g.4699396del | CA2651785447 | PRNP | c.176del (p.Gln59ArgfsTer?) c.87del (p.Ala30ProfsTer?) | gnomAD v4 |
| 20 | g.4699396A>C | CA408151780 | PRNP | c.176A>C (p.Gln59Pro) c.87A>C (p.Ala29=) | |
| 20 | g.4699396A>G | CA408151781 | PRNP | c.176A>G (p.Gln59Arg) c.87A>G (p.Ala29=) | |
| 20 | g.4699396A>T | CA408151779 | PRNP | c.176A>T (p.Gln59Leu) c.87A>T (p.Ala29=) | |
| 20 | g.4699397G>A | CA509567675 | PRNP | c.177G>A (p.Gln59=) c.88G>A (p.Ala30Thr) | |
| 20 | g.4699397G>C | CA408151782 | PRNP | c.177G>C (p.Gln59His) c.88G>C (p.Ala30Pro) | |
| 20 | g.4699397G>T | CA408151783 | PRNP | c.177G>T (p.Gln59His) c.88G>T (p.Ala30Ser) | |
| 20 | g.4699398C>A | CA408151784 | PRNP | c.178C>A (p.Pro60Thr) c.89C>A (p.Ala30Asp) | gnomAD v4 |
| 20 | g.4699398C>G | CA408151785 | PRNP | c.178C>G (p.Pro60Ala) c.89C>G (p.Ala30Gly) | |
| 20 | g.4699398C>T | CA408151786 | PRNP | c.178C>T (p.Pro60Ser) c.89C>T (p.Ala30Val) | |
| 20 | g.4699399C>A | CA408151787 | PRNP | c.179C>A (p.Pro60His) c.90C>A (p.Ala30=) | |
| 20 | g.4699399C= | CA2347156423 | PRNP | c.179C= (p.Pro60=) c.90C= (p.Ala30=) | |
| 20 | g.4699399C>G | CA408151788 | PRNP | c.179C>G (p.Pro60Arg) c.90C>G (p.Ala30=) | |
| 20 | g.4699399C>T | CA9752021 | PRNP | c.179C>T (p.Pro60Leu) c.90C>T (p.Ala30=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699400T>A | CA509567682 | PRNP | c.180T>A (p.Pro60=) c.91T>A (p.Ser31Thr) | |
| 20 | g.4699400T>C | CA509567684 | PRNP | c.180T>C (p.Pro60=) c.91T>C (p.Ser31Pro) | ClinVar dbSNP gnomAD v4 |
| 20 | g.4699400T>G | CA509567685 | PRNP | c.180T>G (p.Pro60=) c.91T>G (p.Ser31Ala) | |
| 20 | g.4699400T= | CA2347156425 | PRNP | c.180T= (p.Pro60=) c.91T= (p.Ser31=) | |
| 20 | g.4699400_4699448delinsTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCC | CA2347156424 | PRNP | c.180_228delinsTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCC (p.Pro60=) c.91_139delinsTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCC (p.Ser31=) |