Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.4699752G>A | CA261110 | PRNP | c.532G>A (p.Asp178Asn) c.*221G>A (n.*221G>A) | ClinVar dbSNP gnomAD v4 |
20 | g.4699752G>C | CA408152566 | PRNP | c.532G>C (p.Asp178His) c.*221G>C (n.*221G>C) | |
20 | g.4699752G= | CA2347156594 | PRNP | c.532G= (p.Asp178=) c.*221G= (n.*221G=) | |
20 | g.4699752G>T | CA408152567 | PRNP | c.532G>T (p.Asp178Tyr) c.*221G>T (n.*221G>T) | gnomAD v4 |
20 | g.4699753A>C | CA408152568 | PRNP | c.533A>C (p.Asp178Ala) c.*222A>C (n.*222A>C) | |
20 | g.4699753A>G | CA408152569 | PRNP | c.533A>G (p.Asp178Gly) c.*222A>G (n.*222A>G) | |
20 | g.4699753A>T | CA311093422 | PRNP | c.533A>T (p.Asp178Val) c.*222A>T (n.*222A>T) | |
20 | g.4699754C>A | CA408152570 | PRNP | c.534C>A (p.Asp178Glu) c.*223C>A (n.*223C>A) | |
20 | g.4699754C>G | CA408152571 | PRNP | c.534C>G (p.Asp178Glu) c.*223C>G (n.*223C>G) | |
20 | g.4699754C>T | CA509567477 | PRNP | c.534C>T (p.Asp178=) c.*223C>T (n.*223C>T) | |
20 | g.4699754_4699755del | CA2695229272 | PRNP | c.534_535del (p.Asp178GlufsTer26) c.*223_*224del (n.*223_*224del) | |
20 | g.4699755T>A | CA408152572 | PRNP | c.535T>A (p.Cys179Ser) c.*224T>A (n.*224T>A) | |
20 | g.4699755T>C | CA408152573 | PRNP | c.535T>C (p.Cys179Arg) c.*224T>C (n.*224T>C) | |
20 | g.4699755T>G | CA408152574 | PRNP | c.535T>G (p.Cys179Gly) c.*224T>G (n.*224T>G) | |
20 | g.4699756G>A | CA408152575 | PRNP | c.536G>A (p.Cys179Tyr) c.*225G>A (n.*225G>A) | |
20 | g.4699756G>C | CA408152576 | PRNP | c.536G>C (p.Cys179Ser) c.*225G>C (n.*225G>C) | |
20 | g.4699756G>T | CA408152577 | PRNP | c.536G>T (p.Cys179Phe) c.*225G>T (n.*225G>T) | |
20 | g.4699757C>A | CA408152578 | PRNP | c.537C>A (p.Cys179Ter) c.*226C>A (n.*226C>A) | |
20 | g.4699757C= | CA2347156595 | PRNP | c.537C= (p.Cys179=) c.*226C= (n.*226C=) | |
20 | g.4699757C>G | CA408152579 | PRNP | c.537C>G (p.Cys179Trp) c.*226C>G (n.*226C>G) | |
20 | g.4699757C>T | CA9752094 | PRNP | c.537C>T (p.Cys179=) c.*226C>T (n.*226C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.4699758G>A | CA256782 | PRNP | c.538G>A (p.Val180Ile) c.*227G>A (n.*227G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.4699758G>C | CA408152581 | PRNP | c.538G>C (p.Val180Leu) c.*227G>C (n.*227G>C) | |
20 | g.4699758G= | CA2347156596 | PRNP | c.538G= (p.Val180=) c.*227G= (n.*227G=) | |
20 | g.4699758G>T | CA408152580 | PRNP | c.538G>T (p.Val180Phe) c.*227G>T (n.*227G>T) | |
20 | g.4699759T>A | CA408152582 | PRNP | c.539T>A (p.Val180Asp) c.*228T>A (n.*228T>A) | |
20 | g.4699759T>C | CA311093423 | PRNP | c.539T>C (p.Val180Ala) c.*228T>C (n.*228T>C) | dbSNP |
20 | g.4699759T>G | CA408152583 | PRNP | c.539T>G (p.Val180Gly) c.*228T>G (n.*228T>G) | |
20 | g.4699759T= | CA2347156597 | PRNP | c.539T= (p.Val180=) c.*228T= (n.*228T=) | |
20 | g.4699760C>A | CA509567483 | PRNP | c.540C>A (p.Val180=) c.*229C>A (n.*229C>A) | |
20 | g.4699760C= | CA2347156598 | PRNP | c.540C= (p.Val180=) c.*229C= (n.*229C=) | |
20 | g.4699760C>G | CA509567484 | PRNP | c.540C>G (p.Val180=) c.*229C>G (n.*229C>G) | |
20 | g.4699760C>T | CA311093424 | PRNP | c.540C>T (p.Val180=) c.*229C>T (n.*229C>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699761A>C | CA408152584 | PRNP | c.541A>C (p.Asn181His) c.*230A>C (n.*230A>C) | |
20 | g.4699761A>G | CA408152585 | PRNP | c.541A>G (p.Asn181Asp) c.*230A>G (n.*230A>G) | |
20 | g.4699761A>T | CA408152586 | PRNP | c.541A>T (p.Asn181Tyr) c.*230A>T (n.*230A>T) | gnomAD v4 |
20 | g.4699762A= | CA2347156599 | PRNP | c.542A= (p.Asn181=) c.*231A= (n.*231A=) | |
20 | g.4699762A>C | CA408152587 | PRNP | c.542A>C (p.Asn181Thr) c.*231A>C (n.*231A>C) | |
20 | g.4699762A>G | CA311093425 | PRNP | c.542A>G (p.Asn181Ser) c.*231A>G (n.*231A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699762A>T | CA408152588 | PRNP | c.542A>T (p.Asn181Ile) c.*231A>T (n.*231A>T) | |
20 | g.4699763T>A | CA408152589 | PRNP | c.543T>A (p.Asn181Lys) c.*232T>A (n.*232T>A) | |
20 | g.4699763T>C | CA509567489 | PRNP | c.543T>C (p.Asn181=) c.*232T>C (n.*232T>C) | |
20 | g.4699763T>G | CA408152590 | PRNP | c.543T>G (p.Asn181Lys) c.*232T>G (n.*232T>G) | |
20 | g.4699764A>C | CA408152591 | PRNP | c.544A>C (p.Ile182Leu) c.*233A>C (n.*233A>C) | |
20 | g.4699764A>G | CA408152592 | PRNP | c.544A>G (p.Ile182Val) c.*233A>G (n.*233A>G) | |
20 | g.4699764A>T | CA408152593 | PRNP | c.544A>T (p.Ile182Phe) c.*233A>T (n.*233A>T) | |
20 | g.4699765T>A | CA408152595 | PRNP | c.545T>A (p.Ile182Asn) c.*234T>A (n.*234T>A) | |
20 | g.4699765T>C | CA408152596 | PRNP | c.545T>C (p.Ile182Thr) c.*234T>C (n.*234T>C) | |
20 | g.4699765T>G | CA408152594 | PRNP | c.545T>G (p.Ile182Ser) c.*234T>G (n.*234T>G) | |
20 | g.4699766C>A | CA509567495 | PRNP | c.546C>A (p.Ile182=) c.*235C>A (n.*235C>A) |