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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.4699780A= | CA2347156604 | PRNP | c.560A= (p.His187=) c.*249A= (n.*249A=) | |
| 20 | g.4699780A>C | CA408152628 | PRNP | c.560A>C (p.His187Pro) c.*249A>C (n.*249A>C) | |
| 20 | g.4699780A>G | CA123096 | PRNP | c.560A>G (p.His187Arg) c.*249A>G (n.*249A>G) | ClinVar dbSNP |
| 20 | g.4699780A>T | CA408152629 | PRNP | c.560A>T (p.His187Leu) c.*249A>T (n.*249A>T) | |
| 20 | g.4699781C>A | CA408152630 | PRNP | c.561C>A (p.His187Gln) c.*250C>A (n.*250C>A) | gnomAD v4 |
| 20 | g.4699781C>G | CA408152631 | PRNP | c.561C>G (p.His187Gln) c.*250C>G (n.*250C>G) | |
| 20 | g.4699781C>T | CA509567522 | PRNP | c.561C>T (p.His187=) c.*250C>T (n.*250C>T) | |
| 20 | g.4699782A= | CA2347156605 | PRNP | c.562A= (p.Thr188=) c.*251A= (n.*251A=) | |
| 20 | g.4699782A>C | CA408152632 | PRNP | c.562A>C (p.Thr188Pro) c.*251A>C (n.*251A>C) | |
| 20 | g.4699782A>G | CA408152633 | PRNP | c.562A>G (p.Thr188Ala) c.*251A>G (n.*251A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699782A>T | CA408152634 | PRNP | c.562A>T (p.Thr188Ser) c.*251A>T (n.*251A>T) | |
| 20 | g.4699783C>A | CA408152635 | PRNP | c.563C>A (p.Thr188Lys) c.*252C>A (n.*252C>A) | |
| 20 | g.4699783C= | CA2347156606 | PRNP | c.563C= (p.Thr188=) c.*252C= (n.*252C=) | |
| 20 | g.4699783C>G | CA9752097 | PRNP | c.563C>G (p.Thr188Arg) c.*252C>G (n.*252C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699783C>T | CA9752096 | PRNP | c.563C>T (p.Thr188Met) c.*252C>T (n.*252C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699784G>A | CA311093426 | PRNP | c.564G>A (p.Thr188=) c.*253G>A (n.*253G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.4699784G>C | CA509567524 | PRNP | c.564G>C (p.Thr188=) c.*253G>C (n.*253G>C) | |
| 20 | g.4699784G= | CA2347156607 | PRNP | c.564G= (p.Thr188=) c.*253G= (n.*253G=) | |
| 20 | g.4699784G>T | CA509567525 | PRNP | c.564G>T (p.Thr188=) c.*253G>T (n.*253G>T) | |
| 20 | g.4699785G>A | CA408152638 | PRNP | c.565G>A (p.Val189Ile) c.*254G>A (n.*254G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699785G>C | CA408152637 | PRNP | c.565G>C (p.Val189Leu) c.*254G>C (n.*254G>C) | |
| 20 | g.4699785G= | CA2347156608 | PRNP | c.565G= (p.Val189=) c.*254G= (n.*254G=) | |
| 20 | g.4699785G>T | CA408152636 | PRNP | c.565G>T (p.Val189Phe) c.*254G>T (n.*254G>T) | gnomAD v4 |
| 20 | g.4699786T>A | CA408152639 | PRNP | c.566T>A (p.Val189Asp) c.*255T>A (n.*255T>A) | |
| 20 | g.4699786T>C | CA408152640 | PRNP | c.566T>C (p.Val189Ala) c.*255T>C (n.*255T>C) | |
| 20 | g.4699786T>G | CA408152641 | PRNP | c.566T>G (p.Val189Gly) c.*255T>G (n.*255T>G) | |
| 20 | g.4699787C>A | CA509567534 | PRNP | c.567C>A (p.Val189=) c.*256C>A (n.*256C>A) | |
| 20 | g.4699787C= | CA2347156609 | PRNP | c.567C= (p.Val189=) c.*256C= (n.*256C=) | |
| 20 | g.4699787C>G | CA509567533 | PRNP | c.567C>G (p.Val189=) c.*256C>G (n.*256C>G) | |
| 20 | g.4699787C>T | CA509567532 | PRNP | c.567C>T (p.Val189=) c.*256C>T (n.*256C>T) | dbSNP gnomAD v4 COSMIC |
| 20 | g.4699790_4699792del | CA2651785460 | PRNP | c.570_572del (p.Thr191del) c.*259_*261del (n.*259_*261del) | gnomAD v4 |
| 20 | g.4699788A>C | CA408152642 | PRNP | c.568A>C (p.Thr190Pro) c.*257A>C (n.*257A>C) | |
| 20 | g.4699788A>G | CA408152643 | PRNP | c.568A>G (p.Thr190Ala) c.*257A>G (n.*257A>G) | gnomAD v4 |
| 20 | g.4699788A>T | CA408152644 | PRNP | c.568A>T (p.Thr190Ser) c.*257A>T (n.*257A>T) | |
| 20 | g.4699789C>A | CA408152645 | PRNP | c.569C>A (p.Thr190Asn) c.*258C>A (n.*258C>A) | |
| 20 | g.4699789C>G | CA408152646 | PRNP | c.569C>G (p.Thr190Ser) c.*258C>G (n.*258C>G) | |
| 20 | g.4699789C>T | CA408152647 | PRNP | c.569C>T (p.Thr190Ile) c.*258C>T (n.*258C>T) | |
| 20 | g.4699790C>A | CA509567538 | PRNP | c.570C>A (p.Thr190=) c.*259C>A (n.*259C>A) | |
| 20 | g.4699790C>G | CA509567539 | PRNP | c.570C>G (p.Thr190=) c.*259C>G (n.*259C>G) | gnomAD v4 |
| 20 | g.4699790C>T | CA509567540 | PRNP | c.570C>T (p.Thr190=) c.*259C>T (n.*259C>T) | |
| 20 | g.4699791A= | CA2347156610 | PRNP | c.571A= (p.Thr191=) c.*260A= (n.*260A=) | |
| 20 | g.4699791A>C | CA408152648 | PRNP | c.571A>C (p.Thr191Pro) c.*260A>C (n.*260A>C) | |
| 20 | g.4699791A>G | CA408152649 | PRNP | c.571A>G (p.Thr191Ala) c.*260A>G (n.*260A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699791A>T | CA408152650 | PRNP | c.571A>T (p.Thr191Ser) c.*260A>T (n.*260A>T) | |
| 20 | g.4699792C>A | CA408152651 | PRNP | c.572C>A (p.Thr191Lys) c.*261C>A (n.*261C>A) | |
| 20 | g.4699792C>G | CA408152653 | PRNP | c.572C>G (p.Thr191Arg) c.*261C>G (n.*261C>G) | |
| 20 | g.4699792C>T | CA408152652 | PRNP | c.572C>T (p.Thr191Ile) c.*261C>T (n.*261C>T) | |
| 20 | g.4699793A>C | CA509567544 | PRNP | c.573A>C (p.Thr191=) c.*262A>C (n.*262A>C) | |
| 20 | g.4699793A>G | CA509567545 | PRNP | c.573A>G (p.Thr191=) c.*262A>G (n.*262A>G) | |
| 20 | g.4699793A>T | CA509567546 | PRNP | c.573A>T (p.Thr191=) c.*262A>T (n.*262A>T) | |
| 20 | g.4699794A= | CA2347156611 | PRNP | c.574A= (p.Thr192=) c.*263A= (n.*263A=) | |
| 20 | g.4699794A>C | CA408152654 | PRNP | c.574A>C (p.Thr192Pro) c.*263A>C (n.*263A>C) | |
| 20 | g.4699794A>G | CA408152656 | PRNP | c.574A>G (p.Thr192Ala) c.*263A>G (n.*263A>G) | dbSNP gnomAD v4 |
| 20 | g.4699794A>T | CA408152655 | PRNP | c.574A>T (p.Thr192Ser) c.*263A>T (n.*263A>T) | dbSNP |
| 20 | g.4699795C>A | CA408152657 | PRNP | c.575C>A (p.Thr192Asn) c.*264C>A (n.*264C>A) | |
| 20 | g.4699795C>G | CA408152659 | PRNP | c.575C>G (p.Thr192Ser) c.*264C>G (n.*264C>G) | gnomAD v4 |
| 20 | g.4699795C>T | CA408152658 | PRNP | c.575C>T (p.Thr192Ile) c.*264C>T (n.*264C>T) | |
| 20 | g.4699796C>A | CA509567550 | PRNP | c.576C>A (p.Thr192=) c.*265C>A (n.*265C>A) | |
| 20 | g.4699796C>G | CA509567551 | PRNP | c.576C>G (p.Thr192=) c.*265C>G (n.*265C>G) | |
| 20 | g.4699796C>T | CA509567552 | PRNP | c.576C>T (p.Thr192=) c.*265C>T (n.*265C>T) | |
| 20 | g.4699797A= | CA2347156612 | PRNP | c.577A= (p.Thr193=) c.*266A= (n.*266A=) | |
| 20 | g.4699797A>C | CA408152660 | PRNP | c.577A>C (p.Thr193Pro) c.*266A>C (n.*266A>C) | |
| 20 | g.4699797A>G | CA9752098 | PRNP | c.577A>G (p.Thr193Ala) c.*266A>G (n.*266A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699797A>T | CA408152661 | PRNP | c.577A>T (p.Thr193Ser) c.*266A>T (n.*266A>T) | dbSNP |
| 20 | g.4699798C>A | CA408152662 | PRNP | c.578C>A (p.Thr193Asn) c.*267C>A (n.*267C>A) | |
| 20 | g.4699798C= | CA2347156613 | PRNP | c.578C= (p.Thr193=) c.*267C= (n.*267C=) | |
| 20 | g.4699798C>G | CA408152663 | PRNP | c.578C>G (p.Thr193Ser) c.*267C>G (n.*267C>G) | gnomAD v4 |
| 20 | g.4699798C>T | CA408152664 | PRNP | c.578C>T (p.Thr193Ile) c.*267C>T (n.*267C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699799C>A | CA9752099 | PRNP | c.579C>A (p.Thr193=) c.*268C>A (n.*268C>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 20 | g.4699799C= | CA2347156614 | PRNP | c.579C= (p.Thr193=) c.*268C= (n.*268C=) | |
| 20 | g.4699799C>G | CA509567553 | PRNP | c.579C>G (p.Thr193=) c.*268C>G (n.*268C>G) | gnomAD v4 |
| 20 | g.4699799C>T | CA509567554 | PRNP | c.579C>T (p.Thr193=) c.*268C>T (n.*268C>T) | |
| 20 | g.4699800A>C | CA408152665 | PRNP | c.580A>C (p.Lys194Gln) c.*269A>C (n.*269A>C) | |
| 20 | g.4699800A>G | CA408152666 | PRNP | c.580A>G (p.Lys194Glu) c.*269A>G (n.*269A>G) | gnomAD v4 |
| 20 | g.4699800A>T | CA408152667 | PRNP | c.580A>T (p.Lys194Ter) c.*269A>T (n.*269A>T) | |
| 20 | g.4699801A= | CA2347156615 | PRNP | c.581A= (p.Lys194=) c.*270A= (n.*270A=) | |
| 20 | g.4699801A>C | CA408152668 | PRNP | c.581A>C (p.Lys194Thr) c.*270A>C (n.*270A>C) | |
| 20 | g.4699801A>G | CA311093427 | PRNP | c.581A>G (p.Lys194Arg) c.*270A>G (n.*270A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699801A>T | CA408152669 | PRNP | c.581A>T (p.Lys194Met) c.*270A>T (n.*270A>T) | |
| 20 | g.4699802G>A | CA509567556 | PRNP | c.582G>A (p.Lys194=) c.*271G>A (n.*271G>A) | |
| 20 | g.4699802G>C | CA408152670 | PRNP | c.582G>C (p.Lys194Asn) c.*271G>C (n.*271G>C) | |
| 20 | g.4699802G>T | CA408152671 | PRNP | c.582G>T (p.Lys194Asn) c.*271G>T (n.*271G>T) | |
| 20 | g.4699806dup | CA2832574537 | PRNP | c.586dup (p.Glu196GlyfsTer9) c.*275dup (n.*275dup) | |
| 20 | g.4699803G>A | CA408152672 | PRNP | c.583G>A (p.Gly195Arg) c.*272G>A (n.*272G>A) | gnomAD v4 |
| 20 | g.4699803G>C | CA9752100 | PRNP | c.583G>C (p.Gly195Arg) c.*272G>C (n.*272G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699803G= | CA2347156616 | PRNP | c.583G= (p.Gly195=) c.*272G= (n.*272G=) | |
| 20 | g.4699803G>T | CA408152673 | PRNP | c.583G>T (p.Gly195Trp) c.*272G>T (n.*272G>T) | |
| 20 | g.4699804G>A | CA408152674 | PRNP | c.584G>A (p.Gly195Glu) c.*273G>A (n.*273G>A) | dbSNP |
| 20 | g.4699804G>C | CA408152675 | PRNP | c.584G>C (p.Gly195Ala) c.*273G>C (n.*273G>C) | |
| 20 | g.4699804G= | CA2347156617 | PRNP | c.584G= (p.Gly195=) c.*273G= (n.*273G=) | |
| 20 | g.4699804G>T | CA408152676 | PRNP | c.584G>T (p.Gly195Val) c.*273G>T (n.*273G>T) | |
| 20 | g.4699805G>A | CA9752101 | PRNP | c.585G>A (p.Gly195=) c.*274G>A (n.*274G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699805G>C | CA509567560 | PRNP | c.585G>C (p.Gly195=) c.*274G>C (n.*274G>C) | |
| 20 | g.4699805G= | CA2347156618 | PRNP | c.585G= (p.Gly195=) c.*274G= (n.*274G=) | |
| 20 | g.4699805G>T | CA509567561 | PRNP | c.585G>T (p.Gly195=) c.*274G>T (n.*274G>T) | |
| 20 | g.4699806G>A | CA408152677 | PRNP | c.586G>A (p.Glu196Lys) c.*275G>A (n.*275G>A) | dbSNP gnomAD v4 |
| 20 | g.4699806G>C | CA408152678 | PRNP | c.586G>C (p.Glu196Gln) c.*275G>C (n.*275G>C) | |
| 20 | g.4699806G= | CA2347156619 | PRNP | c.586G= (p.Glu196=) c.*275G= (n.*275G=) | |
| 20 | g.4699806G>T | CA408152679 | PRNP | c.586G>T (p.Glu196Ter) c.*275G>T (n.*275G>T) | gnomAD v4 |
| 20 | g.4699807A= | CA2347156620 | PRNP | c.587A= (p.Glu196=) c.*276A= (n.*276A=) | |
| 20 | g.4699807A>C | CA9752102 | PRNP | c.587A>C (p.Glu196Ala) c.*276A>C (n.*276A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699807A>G | CA408152680 | PRNP | c.587A>G (p.Glu196Gly) c.*276A>G (n.*276A>G) | COSMIC |
| 20 | g.4699807A>T | CA408152681 | PRNP | c.587A>T (p.Glu196Val) c.*276A>T (n.*276A>T) | |
| 20 | g.4699808G>A | CA509567565 | PRNP | c.588G>A (p.Glu196=) c.*277G>A (n.*277G>A) | gnomAD v4 |
| 20 | g.4699808G>C | CA408152682 | PRNP | c.588G>C (p.Glu196Asp) c.*277G>C (n.*277G>C) | |
| 20 | g.4699808G>T | CA408152683 | PRNP | c.588G>T (p.Glu196Asp) c.*277G>T (n.*277G>T) | |
| 20 | g.4699809A>C | CA408152684 | PRNP | c.589A>C (p.Asn197His) c.*278A>C (n.*278A>C) | |
| 20 | g.4699809A>G | CA408152685 | PRNP | c.589A>G (p.Asn197Asp) c.*278A>G (n.*278A>G) | |
| 20 | g.4699809A>T | CA408152686 | PRNP | c.589A>T (p.Asn197Tyr) c.*278A>T (n.*278A>T) | |
| 20 | g.4699810A>C | CA408152687 | PRNP | c.590A>C (p.Asn197Thr) c.*279A>C (n.*279A>C) | gnomAD v4 |
| 20 | g.4699810A>G | CA408152688 | PRNP | c.590A>G (p.Asn197Ser) c.*279A>G (n.*279A>G) | |
| 20 | g.4699810A>T | CA408152689 | PRNP | c.590A>T (p.Asn197Ile) c.*279A>T (n.*279A>T) | |
| 20 | g.4699811C>A | CA408152690 | PRNP | c.591C>A (p.Asn197Lys) c.*280C>A (n.*280C>A) | |
| 20 | g.4699811C= | CA2347156621 | PRNP | c.591C= (p.Asn197=) c.*280C= (n.*280C=) | |
| 20 | g.4699811C>G | CA408152691 | PRNP | c.591C>G (p.Asn197Lys) c.*280C>G (n.*280C>G) | |
| 20 | g.4699811C>T | CA509567665 | PRNP | c.591C>T (p.Asn197=) c.*280C>T (n.*280C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699812T>A | CA408152692 | PRNP | c.592T>A (p.Phe198Ile) c.*281T>A (n.*281T>A) | |
| 20 | g.4699812T>C | CA408152693 | PRNP | c.592T>C (p.Phe198Leu) c.*281T>C (n.*281T>C) | |
| 20 | g.4699812T>G | CA311093428 | PRNP | c.592T>G (p.Phe198Val) c.*281T>G (n.*281T>G) | dbSNP |
| 20 | g.4699812T= | CA2347156622 | PRNP | c.592T= (p.Phe198=) c.*281T= (n.*281T=) | |
| 20 | g.4699813T>A | CA408152695 | PRNP | c.593T>A (p.Phe198Tyr) c.*282T>A (n.*282T>A) | |
| 20 | g.4699813T>C | CA256779 | PRNP | c.593T>C (p.Phe198Ser) c.*282T>C (n.*282T>C) | ClinVar dbSNP |
| 20 | g.4699813T>G | CA408152694 | PRNP | c.593T>G (p.Phe198Cys) c.*282T>G (n.*282T>G) | |
| 20 | g.4699813T= | CA2347156623 | PRNP | c.593T= (p.Phe198=) c.*282T= (n.*282T=) | |
| 20 | g.4699814C>A | CA408152696 | PRNP | c.594C>A (p.Phe198Leu) c.*283C>A (n.*283C>A) | |
| 20 | g.4699814C>G | CA408152697 | PRNP | c.594C>G (p.Phe198Leu) c.*283C>G (n.*283C>G) | |
| 20 | g.4699814C>T | CA509567668 | PRNP | c.594C>T (p.Phe198=) c.*283C>T (n.*283C>T) | |
| 20 | g.4699815A>C | CA408152698 | PRNP | c.595A>C (p.Thr199Pro) c.*284A>C (n.*284A>C) | |
| 20 | g.4699815A>G | CA408152699 | PRNP | c.595A>G (p.Thr199Ala) c.*284A>G (n.*284A>G) | |
| 20 | g.4699815A>T | CA408152700 | PRNP | c.595A>T (p.Thr199Ser) c.*284A>T (n.*284A>T) | |
| 20 | g.4699816C>A | CA9752103 | PRNP | c.596C>A (p.Thr199Asn) c.*285C>A (n.*285C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699816C= | CA2347156624 | PRNP | c.596C= (p.Thr199=) c.*285C= (n.*285C=) | |
| 20 | g.4699816C>G | CA408152701 | PRNP | c.596C>G (p.Thr199Ser) c.*285C>G (n.*285C>G) | |
| 20 | g.4699816C>T | CA408152702 | PRNP | c.596C>T (p.Thr199Ile) c.*285C>T (n.*285C>T) | |
| 20 | g.4699817C>A | CA509567671 | PRNP | c.597C>A (p.Thr199=) c.*286C>A (n.*286C>A) | |
| 20 | g.4699817C= | CA2347156625 | PRNP | c.597C= (p.Thr199=) c.*286C= (n.*286C=) | |
| 20 | g.4699817C>G | CA509567673 | PRNP | c.597C>G (p.Thr199=) c.*286C>G (n.*286C>G) | |
| 20 | g.4699817C>T | CA9752104 | PRNP | c.597C>T (p.Thr199=) c.*286C>T (n.*286C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699818G>A | CA256778 | PRNP | c.598G>A (p.Glu200Lys) c.*287G>A (n.*287G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699818G>C | CA408152703 | PRNP | c.598G>C (p.Glu200Gln) c.*287G>C (n.*287G>C) | |
| 20 | g.4699818G= | CA2347156626 | PRNP | c.598G= (p.Glu200=) c.*287G= (n.*287G=) | |
| 20 | g.4699818G>T | CA408152704 | PRNP | c.598G>T (p.Glu200Ter) c.*287G>T (n.*287G>T) | |
| 20 | g.4699819A>C | CA408152707 | PRNP | c.599A>C (p.Glu200Ala) c.*288A>C (n.*288A>C) | |
| 20 | g.4699819A>G | CA408152706 | PRNP | c.599A>G (p.Glu200Gly) c.*288A>G (n.*288A>G) | |
| 20 | g.4699819A>T | CA408152705 | PRNP | c.599A>T (p.Glu200Val) c.*288A>T (n.*288A>T) | |
| 20 | g.4699820G>A | CA509567674 | PRNP | c.600G>A (p.Glu200=) c.*289G>A (n.*289G>A) | |
| 20 | g.4699820G>C | CA408152708 | PRNP | c.600G>C (p.Glu200Asp) c.*289G>C (n.*289G>C) | gnomAD v4 |
| 20 | g.4699820G= | CA2347156627 | PRNP | c.600G= (p.Glu200=) c.*289G= (n.*289G=) | |
| 20 | g.4699820G>T | CA408152709 | PRNP | c.600G>T (p.Glu200Asp) c.*289G>T (n.*289G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699821A= | CA2347156628 | PRNP | c.601A= (p.Thr201=) c.*290A= (n.*290A=) | |
| 20 | g.4699821A>C | CA408152710 | PRNP | c.601A>C (p.Thr201Pro) c.*290A>C (n.*290A>C) | |
| 20 | g.4699821A>G | CA408152711 | PRNP | c.601A>G (p.Thr201Ala) c.*290A>G (n.*290A>G) | |
| 20 | g.4699821A>T | CA9752105 | PRNP | c.601A>T (p.Thr201Ser) c.*290A>T (n.*290A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699822C>A | CA408152712 | PRNP | c.602C>A (p.Thr201Asn) c.*291C>A (n.*291C>A) | |
| 20 | g.4699822C>G | CA408152713 | PRNP | c.602C>G (p.Thr201Ser) c.*291C>G (n.*291C>G) | gnomAD v4 |
| 20 | g.4699822C>T | CA408152714 | PRNP | c.602C>T (p.Thr201Ile) c.*291C>T (n.*291C>T) | gnomAD v4 |
| 20 | g.4699823C>A | CA509567680 | PRNP | c.603C>A (p.Thr201=) c.*292C>A (n.*292C>A) | |
| 20 | g.4699823C= | CA2347156629 | PRNP | c.603C= (p.Thr201=) c.*292C= (n.*292C=) | |
| 20 | g.4699823C>G | CA509567681 | PRNP | c.603C>G (p.Thr201=) c.*292C>G (n.*292C>G) | |
| 20 | g.4699823C>T | CA9752106 | PRNP | c.603C>T (p.Thr201=) c.*292C>T (n.*292C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699824G>A | CA9752107 | PRNP | c.604G>A (p.Asp202Asn) c.*293G>A (n.*293G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.4699824G>C | CA408152715 | PRNP | c.604G>C (p.Asp202His) c.*293G>C (n.*293G>C) | |
| 20 | g.4699824G= | CA2347156630 | PRNP | c.604G= (p.Asp202=) c.*293G= (n.*293G=) | |
| 20 | g.4699824G>T | CA408152716 | PRNP | c.604G>T (p.Asp202Tyr) c.*293G>T (n.*293G>T) | COSMIC |
| 20 | g.4699825A>C | CA408152719 | PRNP | c.605A>C (p.Asp202Ala) c.*294A>C (n.*294A>C) | |
| 20 | g.4699825A>G | CA408152718 | PRNP | c.605A>G (p.Asp202Gly) c.*294A>G (n.*294A>G) | |
| 20 | g.4699825A>T | CA408152717 | PRNP | c.605A>T (p.Asp202Val) c.*294A>T (n.*294A>T) | |
| 20 | g.4699826C>A | CA408152720 | PRNP | c.606C>A (p.Asp202Glu) c.*295C>A (n.*295C>A) | |
| 20 | g.4699826C= | CA2347156631 | PRNP | c.606C= (p.Asp202=) c.*295C= (n.*295C=) | |
| 20 | g.4699826C>G | CA408152721 | PRNP | c.606C>G (p.Asp202Glu) c.*295C>G (n.*295C>G) | |
| 20 | g.4699826C>T | CA9752108 | PRNP | c.606C>T (p.Asp202=) c.*295C>T (n.*295C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699827G>A | CA9752109 | PRNP | c.607G>A (p.Val203Ile) c.*296G>A (n.*296G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699827G>C | CA408152722 | PRNP | c.607G>C (p.Val203Leu) c.*296G>C (n.*296G>C) | gnomAD v4 |
| 20 | g.4699827G= | CA2347156632 | PRNP | c.607G= (p.Val203=) c.*296G= (n.*296G=) | |
| 20 | g.4699827G>T | CA408152723 | PRNP | c.607G>T (p.Val203Phe) c.*296G>T (n.*296G>T) | |
| 20 | g.4699828T>A | CA408152724 | PRNP | c.608T>A (p.Val203Asp) c.*297T>A (n.*297T>A) | |
| 20 | g.4699828T>C | CA408152725 | PRNP | c.608T>C (p.Val203Ala) c.*297T>C (n.*297T>C) | |
| 20 | g.4699828T>G | CA408152726 | PRNP | c.608T>G (p.Val203Gly) c.*297T>G (n.*297T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699828T= | CA2347156633 | PRNP | c.608T= (p.Val203=) c.*297T= (n.*297T=) | |
| 20 | g.4699829T>A | CA509567688 | PRNP | c.609T>A (p.Val203=) c.*298T>A (n.*298T>A) | |
| 20 | g.4699829T>C | CA509567689 | PRNP | c.609T>C (p.Val203=) c.*298T>C (n.*298T>C) | |
| 20 | g.4699829T>G | CA509567687 | PRNP | c.609T>G (p.Val203=) c.*298T>G (n.*298T>G) | |
| 20 | g.4699830A>C | CA408152727 | PRNP | c.610A>C (p.Lys204Gln) c.*299A>C (n.*299A>C) | |
| 20 | g.4699830A>G | CA408152728 | PRNP | c.610A>G (p.Lys204Glu) c.*299A>G (n.*299A>G) | |
| 20 | g.4699830A>T | CA408152729 | PRNP | c.610A>T (p.Lys204Ter) c.*299A>T (n.*299A>T) | |
| 20 | g.4699831A= | CA2347156634 | PRNP | c.611A= (p.Lys204=) c.*300A= (n.*300A=) | |
| 20 | g.4699831A>C | CA408152731 | PRNP | c.611A>C (p.Lys204Thr) c.*300A>C (n.*300A>C) | dbSNP |
| 20 | g.4699831A>G | CA408152732 | PRNP | c.611A>G (p.Lys204Arg) c.*300A>G (n.*300A>G) | |
| 20 | g.4699831A>T | CA408152730 | PRNP | c.611A>T (p.Lys204Met) c.*300A>T (n.*300A>T) | |
| 20 | g.4699832G>A | CA509567691 | PRNP | c.612G>A (p.Lys204=) c.*301G>A (n.*301G>A) | |
| 20 | g.4699832G>C | CA408152733 | PRNP | c.612G>C (p.Lys204Asn) c.*301G>C (n.*301G>C) | |
| 20 | g.4699832G>T | CA408152734 | PRNP | c.612G>T (p.Lys204Asn) c.*301G>T (n.*301G>T) | COSMIC |
| 20 | g.4699833A>C | CA408152735 | PRNP | c.613A>C (p.Met205Leu) c.*302A>C (n.*302A>C) | |
| 20 | g.4699833A>G | CA408152736 | PRNP | c.613A>G (p.Met205Val) c.*302A>G (n.*302A>G) | |
| 20 | g.4699833A>T | CA408152737 | PRNP | c.613A>T (p.Met205Leu) c.*302A>T (n.*302A>T) | |
| 20 | g.4699834T>A | CA408152738 | PRNP | c.614T>A (p.Met205Lys) c.*303T>A (n.*303T>A) | |
| 20 | g.4699834T>C | CA408152739 | PRNP | c.614T>C (p.Met205Thr) c.*303T>C (n.*303T>C) | |
| 20 | g.4699834T>G | CA408152740 | PRNP | c.614T>G (p.Met205Arg) c.*303T>G (n.*303T>G) | |
| 20 | g.4699835G>A | CA408152741 | PRNP | c.615G>A (p.Met205Ile) c.*304G>A (n.*304G>A) | |
| 20 | g.4699835G>C | CA408152742 | PRNP | c.615G>C (p.Met205Ile) c.*304G>C (n.*304G>C) | |
| 20 | g.4699835G>T | CA408152743 | PRNP | c.615G>T (p.Met205Ile) c.*304G>T (n.*304G>T) | |
| 20 | g.4699836A>C | CA408152745 | PRNP | c.616A>C (p.Met206Leu) c.*305A>C (n.*305A>C) | |
| 20 | g.4699836A>G | CA408152746 | PRNP | c.616A>G (p.Met206Val) c.*305A>G (n.*305A>G) | gnomAD v4 |
| 20 | g.4699836A>T | CA408152744 | PRNP | c.616A>T (p.Met206Leu) c.*305A>T (n.*305A>T) | |
| 20 | g.4699837T>A | CA408152747 | PRNP | c.617T>A (p.Met206Lys) c.*306T>A (n.*306T>A) | |
| 20 | g.4699837T>C | CA408152748 | PRNP | c.617T>C (p.Met206Thr) c.*306T>C (n.*306T>C) | |
| 20 | g.4699837T>G | CA408152749 | PRNP | c.617T>G (p.Met206Arg) c.*306T>G (n.*306T>G) | |
| 20 | g.4699838G>A | CA408152750 | PRNP | c.618G>A (p.Met206Ile) c.*307G>A (n.*307G>A) | gnomAD v4 |
| 20 | g.4699838G>C | CA408152751 | PRNP | c.618G>C (p.Met206Ile) c.*307G>C (n.*307G>C) | |
| 20 | g.4699838G>T | CA408152752 | PRNP | c.618G>T (p.Met206Ile) c.*307G>T (n.*307G>T) | |
| 20 | g.4699839G>A | CA408152753 | PRNP | c.619G>A (p.Glu207Lys) c.*308G>A (n.*308G>A) | |
| 20 | g.4699839G>C | CA408152755 | PRNP | c.619G>C (p.Glu207Gln) c.*308G>C (n.*308G>C) | gnomAD v4 |
| 20 | g.4699839G>T | CA408152754 | PRNP | c.619G>T (p.Glu207Ter) c.*308G>T (n.*308G>T) | |
| 20 | g.4699840A>C | CA408152756 | PRNP | c.620A>C (p.Glu207Ala) c.*309A>C (n.*309A>C) | |
| 20 | g.4699840A>G | CA408152757 | PRNP | c.620A>G (p.Glu207Gly) c.*309A>G (n.*309A>G) | ClinVar dbSNP |
| 20 | g.4699840A>T | CA408152758 | PRNP | c.620A>T (p.Glu207Val) c.*309A>T (n.*309A>T) | |
| 20 | g.4699841G>A | CA509567702 | PRNP | c.621G>A (p.Glu207=) c.*310G>A (n.*310G>A) | gnomAD v4 |
| 20 | g.4699841G>C | CA408152759 | PRNP | c.621G>C (p.Glu207Asp) c.*310G>C (n.*310G>C) | |
| 20 | g.4699841G>T | CA408152760 | PRNP | c.621G>T (p.Glu207Asp) c.*310G>T (n.*310G>T) | |
| 20 | g.4699842C>A | CA408152761 | PRNP | c.622C>A (p.Arg208Ser) c.*311C>A (n.*311C>A) | |
| 20 | g.4699842C= | CA2347156635 | PRNP | c.622C= (p.Arg208=) c.*311C= (n.*311C=) | |
| 20 | g.4699842C>G | CA408152762 | PRNP | c.622C>G (p.Arg208Gly) c.*311C>G (n.*311C>G) | |
| 20 | g.4699842C>T | CA9752110 | PRNP | c.622C>T (p.Arg208Cys) c.*311C>T (n.*311C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699843G>A | CA256785 | PRNP | c.623G>A (p.Arg208His) c.*312G>A (n.*312G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699843G>C | CA408152763 | PRNP | c.623G>C (p.Arg208Pro) c.*312G>C (n.*312G>C) | |
| 20 | g.4699843G= | CA2347156636 | PRNP | c.623G= (p.Arg208=) c.*312G= (n.*312G=) | |
| 20 | g.4699843G>T | CA408152764 | PRNP | c.623G>T (p.Arg208Leu) c.*312G>T (n.*312G>T) | |
| 20 | g.4699844C>A | CA509567703 | PRNP | c.624C>A (p.Arg208=) c.*313C>A (n.*313C>A) | |
| 20 | g.4699844C= | CA2347156637 | PRNP | c.624C= (p.Arg208=) c.*313C= (n.*313C=) | |
| 20 | g.4699844C>G | CA509567704 | PRNP | c.624C>G (p.Arg208=) c.*313C>G (n.*313C>G) | |
| 20 | g.4699844C>T | CA9752111 | PRNP | c.624C>T (p.Arg208=) c.*313C>T (n.*313C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699845G>A | CA9752112 | PRNP | c.625G>A (p.Val209Met) c.*314G>A (n.*314G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.4699845G>C | CA408152765 | PRNP | c.625G>C (p.Val209Leu) c.*314G>C (n.*314G>C) | gnomAD v4 |
| 20 | g.4699845G= | CA2347156638 | PRNP | c.625G= (p.Val209=) c.*314G= (n.*314G=) | |
| 20 | g.4699845G>T | CA408152766 | PRNP | c.625G>T (p.Val209Leu) c.*314G>T (n.*314G>T) | gnomAD v4 |
| 20 | g.4699846T>A | CA408152769 | PRNP | c.626T>A (p.Val209Glu) c.*315T>A (n.*315T>A) | |
| 20 | g.4699846T>C | CA408152768 | PRNP | c.626T>C (p.Val209Ala) c.*315T>C (n.*315T>C) | |
| 20 | g.4699846T>G | CA408152767 | PRNP | c.626T>G (p.Val209Gly) c.*315T>G (n.*315T>G) | |
| 20 | g.4699847G>A | CA509567711 | PRNP | c.627G>A (p.Val209=) c.*316G>A (n.*316G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699847G>C | CA509567712 | PRNP | c.627G>C (p.Val209=) c.*316G>C (n.*316G>C) | |
| 20 | g.4699847G= | CA2347156639 | PRNP | c.627G= (p.Val209=) c.*316G= (n.*316G=) | |
| 20 | g.4699847G>T | CA509567713 | PRNP | c.627G>T (p.Val209=) c.*316G>T (n.*316G>T) | |
| 20 | g.4699848G>A | CA256781 | PRNP | c.628G>A (p.Val210Ile) c.*317G>A (n.*317G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699848G>C | CA408152770 | PRNP | c.628G>C (p.Val210Leu) c.*317G>C (n.*317G>C) | |
| 20 | g.4699848G= | CA2347156640 | PRNP | c.628G= (p.Val210=) c.*317G= (n.*317G=) | |
| 20 | g.4699848G>T | CA408152771 | PRNP | c.628G>T (p.Val210Phe) c.*317G>T (n.*317G>T) | |
| 20 | g.4699849T>A | CA408152772 | PRNP | c.629T>A (p.Val210Asp) c.*318T>A (n.*318T>A) | |
| 20 | g.4699849T>C | CA408152773 | PRNP | c.629T>C (p.Val210Ala) c.*318T>C (n.*318T>C) | |
| 20 | g.4699849T>G | CA408152774 | PRNP | c.629T>G (p.Val210Gly) c.*318T>G (n.*318T>G) | |
| 20 | g.4699850T>A | CA509567715 | PRNP | c.630T>A (p.Val210=) c.*319T>A (n.*319T>A) | |
| 20 | g.4699850T>C | CA509567716 | PRNP | c.630T>C (p.Val210=) c.*319T>C (n.*319T>C) | |
| 20 | g.4699850T>G | CA509567717 | PRNP | c.630T>G (p.Val210=) c.*319T>G (n.*319T>G) | |
| 20 | g.4699851G>A | CA408152775 | PRNP | c.631G>A (p.Glu211Lys) c.*320G>A (n.*320G>A) | |
| 20 | g.4699851G>C | CA266210 | PRNP | c.631G>C (p.Glu211Gln) c.*320G>C (n.*320G>C) | ClinVar dbSNP |
| 20 | g.4699851G= | CA2347156641 | PRNP | c.631G= (p.Glu211=) c.*320G= (n.*320G=) | |
| 20 | g.4699851G>T | CA408152776 | PRNP | c.631G>T (p.Glu211Ter) c.*320G>T (n.*320G>T) | |
| 20 | g.4699852A>C | CA408152777 | PRNP | c.632A>C (p.Glu211Ala) c.*321A>C (n.*321A>C) | |
| 20 | g.4699852A>G | CA408152778 | PRNP | c.632A>G (p.Glu211Gly) c.*321A>G (n.*321A>G) | |
| 20 | g.4699852A>T | CA408152779 | PRNP | c.632A>T (p.Glu211Val) c.*321A>T (n.*321A>T) | |
| 20 | g.4699853G>A | CA509567721 | PRNP | c.633G>A (p.Glu211=) c.*322G>A (n.*322G>A) | gnomAD v4 |
| 20 | g.4699853G>C | CA266208 | PRNP | c.633G>C (p.Glu211Asp) c.*322G>C (n.*322G>C) | ClinVar dbSNP |
| 20 | g.4699853G= | CA2347156642 | PRNP | c.633G= (p.Glu211=) c.*322G= (n.*322G=) | |
| 20 | g.4699853G>T | CA408152780 | PRNP | c.633G>T (p.Glu211Asp) c.*322G>T (n.*322G>T) | |
| 20 | g.4699854C>A | CA408152781 | PRNP | c.634C>A (p.Gln212Lys) c.*323C>A (n.*323C>A) | |
| 20 | g.4699854C>G | CA408152782 | PRNP | c.634C>G (p.Gln212Glu) c.*323C>G (n.*323C>G) | |
| 20 | g.4699854C>T | CA408152783 | PRNP | c.634C>T (p.Gln212Ter) c.*323C>T (n.*323C>T) | |
| 20 | g.4699855A= | CA2347156643 | PRNP | c.635A= (p.Gln212=) c.*324A= (n.*324A=) | |
| 20 | g.4699855A>C | CA9752113 | PRNP | c.635A>C (p.Gln212Pro) c.*324A>C (n.*324A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699855A>G | CA408152784 | PRNP | c.635A>G (p.Gln212Arg) c.*324A>G (n.*324A>G) | |
| 20 | g.4699855A>T | CA408152785 | PRNP | c.635A>T (p.Gln212Leu) c.*324A>T (n.*324A>T) | |
| 20 | g.4699856G>A | CA9752114 | PRNP | c.636G>A (p.Gln212=) c.*325G>A (n.*325G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699856G>C | CA408152787 | PRNP | c.636G>C (p.Gln212His) c.*325G>C (n.*325G>C) | |
| 20 | g.4699856G= | CA2347156644 | PRNP | c.636G= (p.Gln212=) c.*325G= (n.*325G=) | |
| 20 | g.4699856G>T | CA408152786 | PRNP | c.636G>T (p.Gln212His) c.*325G>T (n.*325G>T) | |
| 20 | g.4699857A>C | CA408152788 | PRNP | c.637A>C (p.Met213Leu) c.*326A>C (n.*326A>C) | |
| 20 | g.4699857A>G | CA408152789 | PRNP | c.637A>G (p.Met213Val) c.*326A>G (n.*326A>G) | gnomAD v4 |
| 20 | g.4699857A>T | CA408152790 | PRNP | c.637A>T (p.Met213Leu) c.*326A>T (n.*326A>T) | gnomAD v4 |
| 20 | g.4699858T>A | CA408152791 | PRNP | c.638T>A (p.Met213Lys) c.*327T>A (n.*327T>A) | |
| 20 | g.4699858T>C | CA408152792 | PRNP | c.638T>C (p.Met213Thr) c.*327T>C (n.*327T>C) | |
| 20 | g.4699858T>G | CA408152793 | PRNP | c.638T>G (p.Met213Arg) c.*327T>G (n.*327T>G) | |
| 20 | g.4699859G>A | CA408152794 | PRNP | c.639G>A (p.Met213Ile) c.*328G>A (n.*328G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699859G>C | CA408152795 | PRNP | c.639G>C (p.Met213Ile) c.*328G>C (n.*328G>C) | |
| 20 | g.4699859G= | CA2347156645 | PRNP | c.639G= (p.Met213=) c.*328G= (n.*328G=) | |
| 20 | g.4699859G>T | CA408152796 | PRNP | c.639G>T (p.Met213Ile) c.*328G>T (n.*328G>T) | |
| 20 | g.4699860T>A | CA408152797 | PRNP | c.640T>A (p.Cys214Ser) c.*329T>A (n.*329T>A) | |
| 20 | g.4699860T>C | CA408152798 | PRNP | c.640T>C (p.Cys214Arg) c.*329T>C (n.*329T>C) | |
| 20 | g.4699860T>G | CA408152799 | PRNP | c.640T>G (p.Cys214Gly) c.*329T>G (n.*329T>G) | |
| 20 | g.4699861G>A | CA408152802 | PRNP | c.641G>A (p.Cys214Tyr) c.*330G>A (n.*330G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699861G>C | CA408152800 | PRNP | c.641G>C (p.Cys214Ser) c.*330G>C (n.*330G>C) | |
| 20 | g.4699861G= | CA2347156646 | PRNP | c.641G= (p.Cys214=) c.*330G= (n.*330G=) | |
| 20 | g.4699861G>T | CA408152801 | PRNP | c.641G>T (p.Cys214Phe) c.*330G>T (n.*330G>T) | gnomAD v4 |
| 20 | g.4699862T>A | CA408152803 | PRNP | c.642T>A (p.Cys214Ter) c.*331T>A (n.*331T>A) | |
| 20 | g.4699862T>C | CA509567727 | PRNP | c.642T>C (p.Cys214=) c.*331T>C (n.*331T>C) | |
| 20 | g.4699862T>G | CA408152804 | PRNP | c.642T>G (p.Cys214Trp) c.*331T>G (n.*331T>G) | |
| 20 | g.4699863A>C | CA408152805 | PRNP | c.643A>C (p.Ile215Leu) c.*332A>C (n.*332A>C) | |
| 20 | g.4699863A>G | CA408152806 | PRNP | c.643A>G (p.Ile215Val) c.*332A>G (n.*332A>G) | gnomAD v4 |
| 20 | g.4699863A>T | CA408152807 | PRNP | c.643A>T (p.Ile215Phe) c.*332A>T (n.*332A>T) | |
| 20 | g.4699864T>A | CA408152808 | PRNP | c.644T>A (p.Ile215Asn) c.*333T>A (n.*333T>A) | |
| 20 | g.4699864T>C | CA408152809 | PRNP | c.644T>C (p.Ile215Thr) c.*333T>C (n.*333T>C) | |
| 20 | g.4699864T>G | CA408152810 | PRNP | c.644T>G (p.Ile215Ser) c.*333T>G (n.*333T>G) | |
| 20 | g.4699865C>A | CA509567729 | PRNP | c.645C>A (p.Ile215=) c.*334C>A (n.*334C>A) | |
| 20 | g.4699865C>G | CA408152811 | PRNP | c.645C>G (p.Ile215Met) c.*334C>G (n.*334C>G) | |
| 20 | g.4699865C>T | CA509567732 | PRNP | c.645C>T (p.Ile215=) c.*334C>T (n.*334C>T) | |
| 20 | g.4699866A>C | CA408152812 | PRNP | c.646A>C (p.Thr216Pro) c.*335A>C (n.*335A>C) | |
| 20 | g.4699866A>G | CA408152813 | PRNP | c.646A>G (p.Thr216Ala) c.*335A>G (n.*335A>G) | gnomAD v4 |
| 20 | g.4699866A>T | CA408152814 | PRNP | c.646A>T (p.Thr216Ser) c.*335A>T (n.*335A>T) | |
| 20 | g.4699867C>A | CA408152816 | PRNP | c.647C>A (p.Thr216Asn) c.*336C>A (n.*336C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699867C= | CA2347156647 | PRNP | c.647C= (p.Thr216=) c.*336C= (n.*336C=) | |
| 20 | g.4699867C>G | CA408152817 | PRNP | c.647C>G (p.Thr216Ser) c.*336C>G (n.*336C>G) | |
| 20 | g.4699867C>T | CA408152815 | PRNP | c.647C>T (p.Thr216Ile) c.*336C>T (n.*336C>T) | |
| 20 | g.4699868C>A | CA509567733 | PRNP | c.648C>A (p.Thr216=) c.*337C>A (n.*337C>A) | COSMIC |
| 20 | g.4699868C= | CA2347156648 | PRNP | c.648C= (p.Thr216=) c.*337C= (n.*337C=) | |
| 20 | g.4699868C>G | CA509567734 | PRNP | c.648C>G (p.Thr216=) c.*337C>G (n.*337C>G) | |
| 20 | g.4699868C>T | CA311093429 | PRNP | c.648C>T (p.Thr216=) c.*337C>T (n.*337C>T) | dbSNP |
| 20 | g.4699869C>A | CA408152820 | PRNP | c.649C>A (p.Gln217Lys) c.*338C>A (n.*338C>A) | |
| 20 | g.4699869C>G | CA408152818 | PRNP | c.649C>G (p.Gln217Glu) c.*338C>G (n.*338C>G) | |
| 20 | g.4699869C>T | CA408152819 | PRNP | c.649C>T (p.Gln217Ter) c.*338C>T (n.*338C>T) | gnomAD v4 |
| 20 | g.4699870A= | CA2347156649 | PRNP | c.650A= (p.Gln217=) c.*339A= (n.*339A=) | |
| 20 | g.4699870A>C | CA408152821 | PRNP | c.650A>C (p.Gln217Pro) c.*339A>C (n.*339A>C) | |
| 20 | g.4699870A>G | CA256780 | PRNP | c.650A>G (p.Gln217Arg) c.*339A>G (n.*339A>G) | ClinVar dbSNP |
| 20 | g.4699870A>T | CA408152822 | PRNP | c.650A>T (p.Gln217Leu) c.*339A>T (n.*339A>T) | |
| 20 | g.4699871G>A | CA509567739 | PRNP | c.651G>A (p.Gln217=) c.*340G>A (n.*340G>A) | gnomAD v4 |
| 20 | g.4699871G>C | CA408152823 | PRNP | c.651G>C (p.Gln217His) c.*340G>C (n.*340G>C) | |
| 20 | g.4699871G>T | CA408152824 | PRNP | c.651G>T (p.Gln217His) c.*340G>T (n.*340G>T) | |
| 20 | g.4699872T>A | CA408152825 | PRNP | c.652T>A (p.Tyr218Asn) c.*341T>A (n.*341T>A) | |
| 20 | g.4699872T>C | CA408152826 | PRNP | c.652T>C (p.Tyr218His) c.*341T>C (n.*341T>C) | gnomAD v4 |
| 20 | g.4699872T>G | CA408152827 | PRNP | c.652T>G (p.Tyr218Asp) c.*341T>G (n.*341T>G) | |
| 20 | g.4699873A>C | CA408152828 | PRNP | c.653A>C (p.Tyr218Ser) c.*342A>C (n.*342A>C) | |
| 20 | g.4699873A>G | CA408152829 | PRNP | c.653A>G (p.Tyr218Cys) c.*342A>G (n.*342A>G) | |
| 20 | g.4699873A>T | CA408152830 | PRNP | c.653A>T (p.Tyr218Phe) c.*342A>T (n.*342A>T) | |
| 20 | g.4699874C>A | CA408152832 | PRNP | c.654C>A (p.Tyr218Ter) c.*343C>A (n.*343C>A) | |
| 20 | g.4699874C= | CA2347156650 | PRNP | c.654C= (p.Tyr218=) c.*343C= (n.*343C=) | |
| 20 | g.4699874C>G | CA408152831 | PRNP | c.654C>G (p.Tyr218Ter) c.*343C>G (n.*343C>G) | ClinVar |
| 20 | g.4699874C>T | CA9752115 | PRNP | c.654C>T (p.Tyr218=) c.*343C>T (n.*343C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699875G>A | CA123094 | PRNP | c.655G>A (p.Glu219Lys) c.*344G>A (n.*344G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699875G>C | CA408152833 | PRNP | c.655G>C (p.Glu219Gln) c.*344G>C (n.*344G>C) | |
| 20 | g.4699875G= | CA2347156651 | PRNP | c.655G= (p.Glu219=) c.*344G= (n.*344G=) | |
| 20 | g.4699875G>T | CA408152834 | PRNP | c.655G>T (p.Glu219Ter) c.*344G>T (n.*344G>T) | dbSNP |
| 20 | g.4699876A>C | CA408152835 | PRNP | c.656A>C (p.Glu219Ala) c.*345A>C (n.*345A>C) | |
| 20 | g.4699876A>G | CA408152836 | PRNP | c.656A>G (p.Glu219Gly) c.*345A>G (n.*345A>G) | |
| 20 | g.4699876A>T | CA408152837 | PRNP | c.656A>T (p.Glu219Val) c.*345A>T (n.*345A>T) | |
| 20 | g.4699877G>A | CA509567746 | PRNP | c.657G>A (p.Glu219=) c.*346G>A (n.*346G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699877G>C | CA408152838 | PRNP | c.657G>C (p.Glu219Asp) c.*346G>C (n.*346G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699877G= | CA2347156652 | PRNP | c.657G= (p.Glu219=) c.*346G= (n.*346G=) | |
| 20 | g.4699877G>T | CA408152839 | PRNP | c.657G>T (p.Glu219Asp) c.*346G>T (n.*346G>T) | gnomAD v4 |
| 20 | g.4699878A>C | CA509567747 | PRNP | c.658A>C (p.Arg220=) c.*347A>C (n.*347A>C) | |
| 20 | g.4699878A>G | CA408152840 | PRNP | c.658A>G (p.Arg220Gly) c.*347A>G (n.*347A>G) | gnomAD v4 |
| 20 | g.4699878A>T | CA408152841 | PRNP | c.658A>T (p.Arg220Trp) c.*347A>T (n.*347A>T) | |
| 20 | g.4699879G>A | CA408152842 | PRNP | c.659G>A (p.Arg220Lys) c.*348G>A (n.*348G>A) | gnomAD v4 |
| 20 | g.4699879G>C | CA408152843 | PRNP | c.659G>C (p.Arg220Thr) c.*348G>C (n.*348G>C) | |
| 20 | g.4699879G>T | CA408152844 | PRNP | c.659G>T (p.Arg220Met) c.*348G>T (n.*348G>T) | |
| 20 | g.4699881dup | CA2838371780 | PRNP | c.661dup (p.Glu221GlyfsTer?) c.*350dup (n.*350dup) | |
| 20 | g.4699880G>A | CA509567753 | PRNP | c.660G>A (p.Arg220=) c.*349G>A (n.*349G>A) | gnomAD v4 |
| 20 | g.4699880G>C | CA408152845 | PRNP | c.660G>C (p.Arg220Ser) c.*349G>C (n.*349G>C) | |
| 20 | g.4699880G>T | CA408152846 | PRNP | c.660G>T (p.Arg220Ser) c.*349G>T (n.*349G>T) |