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 |
|---|---|---|---|---|---|
| 5 | g.140114574C>A | CA361490667 | PURA | c.393C>A (p.Asp131Glu) | |
| 5 | g.140114574C= | CA1586594407 | PURA | c.393C= (p.Asp131=) | |
| 5 | g.140114574C>G | CA361490668 | PURA | c.393C>G (p.Asp131Glu) | |
| 5 | g.140114574C>T | CA446831216 | PURA | c.393C>T (p.Asp131=) | dbSNP gnomAD v4 |
| 5 | g.140114575C>A | CA361490669 | PURA | c.394C>A (p.Leu132Met) | |
| 5 | g.140114575C= | CA1586594424 | PURA | c.394C= (p.Leu132=) | |
| 5 | g.140114575C>G | CA3437460 | PURA | c.394C>G (p.Leu132Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114575C>T | CA446831217 | PURA | c.394C>T (p.Leu132=) | dbSNP |
| 5 | g.140114576T>A | CA361490670 | PURA | c.395T>A (p.Leu132Gln) | |
| 5 | g.140114576T>C | CA361490671 | PURA | c.395T>C (p.Leu132Pro) | |
| 5 | g.140114576T>G | CA361490672 | PURA | c.395T>G (p.Leu132Arg) | |
| 5 | g.140114577G>A | CA446831220 | PURA | c.396G>A (p.Leu132=) | |
| 5 | g.140114577G>C | CA446831218 | PURA | c.396G>C (p.Leu132=) | |
| 5 | g.140114577G>T | CA446831219 | PURA | c.396G>T (p.Leu132=) | gnomAD v4 |
| 5 | g.140114578G>A | CA361490673 | PURA | c.397G>A (p.Ala133Thr) | COSMIC |
| 5 | g.140114578G>C | CA361490675 | PURA | c.397G>C (p.Ala133Pro) | |
| 5 | g.140114578G>T | CA361490674 | PURA | c.397G>T (p.Ala133Ser) | gnomAD v4 |
| 5 | g.140114579C>A | CA361490676 | PURA | c.398C>A (p.Ala133Asp) | |
| 5 | g.140114579C>G | CA361490677 | PURA | c.398C>G (p.Ala133Gly) | |
| 5 | g.140114579C>T | CA361490678 | PURA | c.398C>T (p.Ala133Val) | |
| 5 | g.140114580C>A | CA446831221 | PURA | c.399C>A (p.Ala133=) | |
| 5 | g.140114580C= | CA1586594433 | PURA | c.399C= (p.Ala133=) | |
| 5 | g.140114580C>G | CA446831222 | PURA | c.399C>G (p.Ala133=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114580C>T | CA446831223 | PURA | c.399C>T (p.Ala133=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114581C>A | CA361490679 | PURA | c.400C>A (p.Gln134Lys) | |
| 5 | g.140114581C>G | CA361490680 | PURA | c.400C>G (p.Gln134Glu) | gnomAD v4 |
| 5 | g.140114581C>T | CA361490681 | PURA | c.400C>T (p.Gln134Ter) | |
| 5 | g.140114582A>C | CA361490682 | PURA | c.401A>C (p.Gln134Pro) | |
| 5 | g.140114582A>G | CA361490683 | PURA | c.401A>G (p.Gln134Arg) | gnomAD v4 |
| 5 | g.140114582A>T | CA361490684 | PURA | c.401A>T (p.Gln134Leu) | |
| 5 | g.140114583G>A | CA446831224 | PURA | c.402G>A (p.Gln134=) | |
| 5 | g.140114583G>C | CA361490685 | PURA | c.402G>C (p.Gln134His) | |
| 5 | g.140114583G= | CA1586594438 | PURA | c.402G= (p.Gln134=) | |
| 5 | g.140114583G>T | CA361490686 | PURA | c.402G>T (p.Gln134His) | |
| 5 | g.140114584G>A | CA361490687 | PURA | c.403G>A (p.Ala135Thr) | gnomAD v4 |
| 5 | g.140114584G>C | CA361490689 | PURA | c.403G>C (p.Ala135Pro) | |
| 5 | g.140114584G= | CA1586594449 | PURA | c.403G= (p.Ala135=) | |
| 5 | g.140114584G>T | CA361490688 | PURA | c.403G>T (p.Ala135Ser) | dbSNP gnomAD v4 |
| 5 | g.140114588_140114601dup | CA913189694 | PURA | c.407_420dup (p.Ala142ThrfsTer?) | ClinVar dbSNP |
| 5 | g.140114585C>A | CA361490690 | PURA | c.404C>A (p.Ala135Glu) | COSMIC |
| 5 | g.140114585C= | CA1586594461 | PURA | c.404C= (p.Ala135=) | |
| 5 | g.140114585C>G | CA361490692 | PURA | c.404C>G (p.Ala135Gly) | |
| 5 | g.140114585C>T | CA361490691 | PURA | c.404C>T (p.Ala135Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114585_140114614delinsCGCAGGACGAGCCGCGCCGGGCGCTCAAAA | CA1586594463 | PURA | c.404_433delinsCGCAGGACGAGCCGCGCCGGGCGCTCAAAA (p.Ala135=) | |
| 5 | g.140114586G>A | CA446831225 | PURA | c.405G>A (p.Ala135=) | dbSNP gnomAD v4 |
| 5 | g.140114586G>C | CA446831226 | PURA | c.405G>C (p.Ala135=) | |
| 5 | g.140114586G= | CA1586594472 | PURA | c.405G= (p.Ala135=) | |
| 5 | g.140114586G>T | CA446831227 | PURA | c.405G>T (p.Ala135=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114588_140114616del | CA915942637 | PURA | c.407_435del (p.Gln136ArgfsTer?) | ClinVar dbSNP |
| 5 | g.140114587C>A | CA361490693 | PURA | c.406C>A (p.Gln136Lys) | gnomAD v4 |
| 5 | g.140114587C>G | CA361490694 | PURA | c.406C>G (p.Gln136Glu) | gnomAD v4 |
| 5 | g.140114587C>T | CA361490695 | PURA | c.406C>T (p.Gln136Ter) | ClinVar dbSNP |
| 5 | g.140114587_140114588del | CA2555482041 | PURA | c.406_407del (p.Gln136GlyfsTer?) | |
| 5 | g.140114588A= | CA1586594480 | PURA | c.407A= (p.Gln136=) | |
| 5 | g.140114588A>C | CA3437461 | PURA | c.407A>C (p.Gln136Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114588A>G | CA361490696 | PURA | c.407A>G (p.Gln136Arg) | |
| 5 | g.140114588A>T | CA361490697 | PURA | c.407A>T (p.Gln136Leu) | |
| 5 | g.140114589G>A | CA446831228 | PURA | c.408G>A (p.Gln136=) | |
| 5 | g.140114589G>C | CA361490698 | PURA | c.408G>C (p.Gln136His) | |
| 5 | g.140114589G>T | CA361490699 | PURA | c.408G>T (p.Gln136His) | gnomAD v4 |
| 5 | g.140114589_140114590insCC | CA2504574239 | PURA | c.408_409insCC (p.Asp137ProfsTer?) | |
| 5 | g.140114590G>A | CA361490700 | PURA | c.409G>A (p.Asp137Asn) | gnomAD v4 |
| 5 | g.140114590G>C | CA361490701 | PURA | c.409G>C (p.Asp137His) | ClinVar dbSNP |
| 5 | g.140114590G>T | CA361490702 | PURA | c.409G>T (p.Asp137Tyr) | |
| 5 | g.140114591A>C | CA361490705 | PURA | c.410A>C (p.Asp137Ala) | |
| 5 | g.140114591A>G | CA361490703 | PURA | c.410A>G (p.Asp137Gly) | |
| 5 | g.140114591A>T | CA361490704 | PURA | c.410A>T (p.Asp137Val) | |
| 5 | g.140114592C>A | CA361490706 | PURA | c.411C>A (p.Asp137Glu) | |
| 5 | g.140114592C= | CA1586594485 | PURA | c.411C= (p.Asp137=) | |
| 5 | g.140114592C>G | CA361490707 | PURA | c.411C>G (p.Asp137Glu) | gnomAD v4 |
| 5 | g.140114592C>T | CA446831229 | PURA | c.411C>T (p.Asp137=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114593G>A | CA361490708 | PURA | c.412G>A (p.Glu138Lys) | |
| 5 | g.140114593G>C | CA361490709 | PURA | c.412G>C (p.Glu138Gln) | |
| 5 | g.140114593G>T | CA361490710 | PURA | c.412G>T (p.Glu138Ter) | |
| 5 | g.140114594A>C | CA361490711 | PURA | c.413A>C (p.Glu138Ala) | |
| 5 | g.140114594A>G | CA361490712 | PURA | c.413A>G (p.Glu138Gly) | |
| 5 | g.140114594A>T | CA361490713 | PURA | c.413A>T (p.Glu138Val) | |
| 5 | g.140114595G>A | CA128789404 | PURA | c.414G>A (p.Glu138=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114595G>C | CA361490714 | PURA | c.414G>C (p.Glu138Asp) | |
| 5 | g.140114595G= | CA1586594492 | PURA | c.414G= (p.Glu138=) | |
| 5 | g.140114595G>T | CA361490715 | PURA | c.414G>T (p.Glu138Asp) | gnomAD v4 |
| 5 | g.140114596C>A | CA361490717 | PURA | c.415C>A (p.Pro139Thr) | gnomAD v4 |
| 5 | g.140114596C>G | CA361490718 | PURA | c.415C>G (p.Pro139Ala) | |
| 5 | g.140114596C>T | CA361490716 | PURA | c.415C>T (p.Pro139Ser) | gnomAD v4 |
| 5 | g.140114597C>A | CA361490719 | PURA | c.416C>A (p.Pro139Gln) | gnomAD v4 |
| 5 | g.140114597C>G | CA361490720 | PURA | c.416C>G (p.Pro139Arg) | |
| 5 | g.140114597C>T | CA361490721 | PURA | c.416C>T (p.Pro139Leu) | ClinVar |
| 5 | g.140114598G>A | CA446831232 | PURA | c.417G>A (p.Pro139=) | gnomAD v4 COSMIC |
| 5 | g.140114598G>C | CA446831231 | PURA | c.417G>C (p.Pro139=) | |
| 5 | g.140114598G>T | CA446831230 | PURA | c.417G>T (p.Pro139=) | |
| 5 | g.140114599C>A | CA361490722 | PURA | c.418C>A (p.Arg140Ser) | gnomAD v4 |
| 5 | g.140114599C>G | CA361490723 | PURA | c.418C>G (p.Arg140Gly) | |
| 5 | g.140114599C>T | CA361490724 | PURA | c.418C>T (p.Arg140Cys) | |
| 5 | g.140114600G>A | CA361490725 | PURA | c.419G>A (p.Arg140His) | gnomAD v4 |
| 5 | g.140114600G>C | CA302662 | PURA | c.419G>C (p.Arg140Pro) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114600G= | CA1586594500 | PURA | c.419G= (p.Arg140=) | |
| 5 | g.140114600G>T | CA361490726 | PURA | c.419G>T (p.Arg140Leu) | gnomAD v4 |
| 5 | g.140114601C>A | CA446831233 | PURA | c.420C>A (p.Arg140=) | |
| 5 | g.140114601C= | CA1586594510 | PURA | c.420C= (p.Arg140=) | |
| 5 | g.140114601C>G | CA446831234 | PURA | c.420C>G (p.Arg140=) | ClinVar |
| 5 | g.140114601C>T | CA3437462 | PURA | c.420C>T (p.Arg140=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114602dup | CA658774048 | PURA | c.421dup (p.Arg141ProfsTer?) | |
| 5 | g.140114602C>A | CA446831235 | PURA | c.421C>A (p.Arg141=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114602C= | CA1586594523 | PURA | c.421C= (p.Arg141=) | |
| 5 | g.140114602C>G | CA361490727 | PURA | c.421C>G (p.Arg141Gly) | gnomAD v4 |
| 5 | g.140114602C>T | CA361490728 | PURA | c.421C>T (p.Arg141Trp) | dbSNP gnomAD v4 |
| 5 | g.140114603G>A | CA361490730 | PURA | c.422G>A (p.Arg141Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114603G>C | CA361490731 | PURA | c.422G>C (p.Arg141Pro) | |
| 5 | g.140114603G= | CA1586594548 | PURA | c.422G= (p.Arg141=) | |
| 5 | g.140114603G>T | CA361490729 | PURA | c.422G>T (p.Arg141Leu) | gnomAD v4 |
| 5 | g.140114605dup | CA915942638 | PURA | c.424dup (p.Ala142GlyfsTer?) | ClinVar dbSNP |
| 5 | g.140114604G>A | CA446831238 | PURA | c.423G>A (p.Arg141=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114604G>C | CA446831237 | PURA | c.423G>C (p.Arg141=) | |
| 5 | g.140114604G= | CA1586594556 | PURA | c.423G= (p.Arg141=) | |
| 5 | g.140114604G>T | CA446831236 | PURA | c.423G>T (p.Arg141=) | gnomAD v4 |
| 5 | g.140114605G>A | CA361490732 | PURA | c.424G>A (p.Ala142Thr) | COSMIC |
| 5 | g.140114605G>C | CA361490733 | PURA | c.424G>C (p.Ala142Pro) | gnomAD v4 |
| 5 | g.140114605G>T | CA361490734 | PURA | c.424G>T (p.Ala142Ser) | |
| 5 | g.140114607_140114608dup | CA923726104 | PURA | c.426_427dup (p.Leu143ArgfsTer?) | ClinVar dbSNP |
| 5 | g.140114606C>A | CA361490735 | PURA | c.425C>A (p.Ala142Glu) | ClinVar gnomAD v4 |
| 5 | g.140114606C= | CA1586594565 | PURA | c.425C= (p.Ala142=) | |
| 5 | g.140114606C>G | CA361490736 | PURA | c.425C>G (p.Ala142Gly) | |
| 5 | g.140114606C>T | CA361490737 | PURA | c.425C>T (p.Ala142Val) | dbSNP gnomAD v4 |
| 5 | g.140114607G>A | CA446831239 | PURA | c.426G>A (p.Ala142=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114607G>C | CA446831240 | PURA | c.426G>C (p.Ala142=) | ClinVar |
| 5 | g.140114607G= | CA1586594569 | PURA | c.426G= (p.Ala142=) | |
| 5 | g.140114607G>T | CA446831241 | PURA | c.426G>T (p.Ala142=) | gnomAD v4 |
| 5 | g.140114608C>A | CA361490738 | PURA | c.427C>A (p.Leu143Ile) | gnomAD v4 |
| 5 | g.140114608C= | CA1586594574 | PURA | c.427C= (p.Leu143=) | |
| 5 | g.140114608C>G | CA361490740 | PURA | c.427C>G (p.Leu143Val) | ClinVar dbSNP |
| 5 | g.140114608C>T | CA361490739 | PURA | c.427C>T (p.Leu143Phe) | |
| 5 | g.140114609T>A | CA361490741 | PURA | c.428T>A (p.Leu143His) | |
| 5 | g.140114609T>C | CA361490742 | PURA | c.428T>C (p.Leu143Pro) | gnomAD v4 |
| 5 | g.140114609T>G | CA361490743 | PURA | c.428T>G (p.Leu143Arg) | |
| 5 | g.140114610C>A | CA446830805 | PURA | c.429C>A (p.Leu143=) | gnomAD v4 |
| 5 | g.140114610C>G | CA446830807 | PURA | c.429C>G (p.Leu143=) | |
| 5 | g.140114610C>T | CA446830809 | PURA | c.429C>T (p.Leu143=) | |
| 5 | g.140114610_140114613delinsCAAA | CA1586594579 | PURA | c.429_432delinsCAAA (p.Leu143=) | |
| 5 | g.140114611A= | CA1586594593 | PURA | c.430A= (p.Lys144=) | |
| 5 | g.140114611A>C | CA361490745 | PURA | c.430A>C (p.Lys144Gln) | |
| 5 | g.140114611A>G | CA361490746 | PURA | c.430A>G (p.Lys144Glu) | ClinVar dbSNP |
| 5 | g.140114611A>T | CA361490744 | PURA | c.430A>T (p.Lys144Ter) | |
| 5 | g.140114614dup | CA2739275108 | PURA | c.433dup (p.Ser145LysfsTer?) | ClinVar |
| 5 | g.140114612_140114614del | CA128789405 | PURA | c.431_433del (p.Lys144del) | dbSNP |
| 5 | g.140114612A>C | CA361490747 | PURA | c.431A>C (p.Lys144Thr) | |
| 5 | g.140114612A>G | CA361490748 | PURA | c.431A>G (p.Lys144Arg) | |
| 5 | g.140114612A>T | CA361490749 | PURA | c.431A>T (p.Lys144Ile) | |
| 5 | g.140114613A= | CA1586594602 | PURA | c.432A= (p.Lys144=) | |
| 5 | g.140114613A>C | CA361490751 | PURA | c.432A>C (p.Lys144Asn) | ClinVar dbSNP |
| 5 | g.140114613A>G | CA446830815 | PURA | c.432A>G (p.Lys144=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.140114613A>T | CA361490750 | PURA | c.432A>T (p.Lys144Asn) | |
| 5 | g.140114614A>C | CA361490752 | PURA | c.433A>C (p.Ser145Arg) | |
| 5 | g.140114614A>G | CA361490753 | PURA | c.433A>G (p.Ser145Gly) | |
| 5 | g.140114614A>T | CA361490754 | PURA | c.433A>T (p.Ser145Cys) | |
| 5 | g.140114615G>A | CA361490755 | PURA | c.434G>A (p.Ser145Asn) | |
| 5 | g.140114615G>C | CA361490756 | PURA | c.434G>C (p.Ser145Thr) | gnomAD v4 |
| 5 | g.140114615G>T | CA361490757 | PURA | c.434G>T (p.Ser145Ile) | gnomAD v4 |
| 5 | g.140114616C>A | CA361490758 | PURA | c.435C>A (p.Ser145Arg) | gnomAD v4 |
| 5 | g.140114616C= | CA1586594611 | PURA | c.435C= (p.Ser145=) | |
| 5 | g.140114616C>G | CA361490759 | PURA | c.435C>G (p.Ser145Arg) | |
| 5 | g.140114616C>T | CA446830821 | PURA | c.435C>T (p.Ser145=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114617G>A | CA361490760 | PURA | c.436G>A (p.Glu146Lys) | ClinVar dbSNP |
| 5 | g.140114617G>C | CA361490761 | PURA | c.436G>C (p.Glu146Gln) | gnomAD v4 |
| 5 | g.140114617G= | CA1586594613 | PURA | c.436G= (p.Glu146=) | |
| 5 | g.140114617G>T | CA361490762 | PURA | c.436G>T (p.Glu146Ter) | gnomAD v4 |
| 5 | g.140114618A>C | CA361490765 | PURA | c.437A>C (p.Glu146Ala) | |
| 5 | g.140114618A>G | CA361490764 | PURA | c.437A>G (p.Glu146Gly) | |
| 5 | g.140114618A>T | CA361490763 | PURA | c.437A>T (p.Glu146Val) | |
| 5 | g.140114619G>A | CA446830829 | PURA | c.438G>A (p.Glu146=) | gnomAD v4 |
| 5 | g.140114619G>C | CA361490766 | PURA | c.438G>C (p.Glu146Asp) | |
| 5 | g.140114619G>T | CA361490767 | PURA | c.438G>T (p.Glu146Asp) | |
| 5 | g.140114620T>A | CA361490768 | PURA | c.439T>A (p.Phe147Ile) | |
| 5 | g.140114620T>C | CA361490769 | PURA | c.439T>C (p.Phe147Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114620T>G | CA361490770 | PURA | c.439T>G (p.Phe147Val) | |
| 5 | g.140114621T>A | CA361490771 | PURA | c.440T>A (p.Phe147Tyr) | |
| 5 | g.140114621T>C | CA361490772 | PURA | c.440T>C (p.Phe147Ser) | |
| 5 | g.140114621T>G | CA361490773 | PURA | c.440T>G (p.Phe147Cys) | |
| 5 | g.140114622C>A | CA361490774 | PURA | c.441C>A (p.Phe147Leu) | gnomAD v4 |
| 5 | g.140114622C= | CA1586594616 | PURA | c.441C= (p.Phe147=) | |
| 5 | g.140114622C>G | CA361490775 | PURA | c.441C>G (p.Phe147Leu) | |
| 5 | g.140114622C>T | CA3437463 | PURA | c.441C>T (p.Phe147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114623C>A | CA361490776 | PURA | c.442C>A (p.Leu148Met) | |
| 5 | g.140114623C>G | CA361490777 | PURA | c.442C>G (p.Leu148Val) | |
| 5 | g.140114623C>T | CA446830840 | PURA | c.442C>T (p.Leu148=) | |
| 5 | g.140114624T>A | CA361490780 | PURA | c.443T>A (p.Leu148Gln) | |
| 5 | g.140114624T>C | CA361490779 | PURA | c.443T>C (p.Leu148Pro) | |
| 5 | g.140114624T>G | CA361490778 | PURA | c.443T>G (p.Leu148Arg) | |
| 5 | g.140114625G>A | CA446830844 | PURA | c.444G>A (p.Leu148=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114625G>C | CA446830845 | PURA | c.444G>C (p.Leu148=) | |
| 5 | g.140114625G>T | CA446830846 | PURA | c.444G>T (p.Leu148=) | |
| 5 | g.140114626G>A | CA361490783 | PURA | c.445G>A (p.Val149Met) | |
| 5 | g.140114626G>C | CA361490781 | PURA | c.445G>C (p.Val149Leu) | |
| 5 | g.140114626G>T | CA361490782 | PURA | c.445G>T (p.Val149Leu) | |
| 5 | g.140114627T>A | CA361490784 | PURA | c.446T>A (p.Val149Glu) | |
| 5 | g.140114627T>C | CA361490785 | PURA | c.446T>C (p.Val149Ala) | |
| 5 | g.140114627T>G | CA361490786 | PURA | c.446T>G (p.Val149Gly) | |
| 5 | g.140114628G>A | CA446830850 | PURA | c.447G>A (p.Val149=) | |
| 5 | g.140114628G>C | CA446830851 | PURA | c.447G>C (p.Val149=) | |
| 5 | g.140114628G>T | CA446830852 | PURA | c.447G>T (p.Val149=) | gnomAD v4 |
| 5 | g.140114628_140114636delinsGCGCGAGAA | CA1586594620 | PURA | c.447_455delinsGCGCGAGAA (p.Val149=) | |
| 5 | g.140114629C>A | CA361490787 | PURA | c.448C>A (p.Arg150Ser) | gnomAD v4 |
| 5 | g.140114629C>G | CA361490788 | PURA | c.448C>G (p.Arg150Gly) | |
| 5 | g.140114629C>T | CA361490789 | PURA | c.448C>T (p.Arg150Cys) | gnomAD v4 |
| 5 | g.140114630_140114637del | CA915942639 | PURA | c.449_456del (p.Arg150ProfsTer?) | ClinVar dbSNP |
| 5 | g.140114630del | CA2695205329 | PURA | c.449del (p.Arg150ProfsTer?) | |
| 5 | g.140114630G>A | CA361490790 | PURA | c.449G>A (p.Arg150His) | |
| 5 | g.140114630G>C | CA361490791 | PURA | c.449G>C (p.Arg150Pro) | |
| 5 | g.140114630G>T | CA361490792 | PURA | c.449G>T (p.Arg150Leu) | |
| 5 | g.140114631C>A | CA446830856 | PURA | c.450C>A (p.Arg150=) | |
| 5 | g.140114631C= | CA1586594636 | PURA | c.450C= (p.Arg150=) | |
| 5 | g.140114631C>G | CA3437464 | PURA | c.450C>G (p.Arg150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.140114631C>T | CA3437465 | PURA | c.450C>T (p.Arg150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114632G>A | CA361490795 | PURA | c.451G>A (p.Glu151Lys) | |
| 5 | g.140114632G>C | CA361490793 | PURA | c.451G>C (p.Glu151Gln) | |
| 5 | g.140114632G= | CA1586594650 | PURA | c.451G= (p.Glu151=) | |
| 5 | g.140114632G>T | CA361490794 | PURA | c.451G>T (p.Glu151Ter) | ClinVar dbSNP |
| 5 | g.140114639_140114668dup | CA1139659099 | PURA | c.458_487dup (p.Asn162_Gln163insArgLysTyrTyrMetAspLeuLysGluAsn) | ClinVar dbSNP |
| 5 | g.140114633A>C | CA361490796 | PURA | c.452A>C (p.Glu151Ala) | |
| 5 | g.140114633A>G | CA361490797 | PURA | c.452A>G (p.Glu151Gly) | |
| 5 | g.140114633A>T | CA361490798 | PURA | c.452A>T (p.Glu151Val) | |
| 5 | g.140114634G>A | CA446830864 | PURA | c.453G>A (p.Glu151=) | COSMIC |
| 5 | g.140114634G>C | CA361490799 | PURA | c.453G>C (p.Glu151Asp) | |
| 5 | g.140114634G>T | CA361490800 | PURA | c.453G>T (p.Glu151Asp) | |
| 5 | g.140114635A>C | CA361490801 | PURA | c.454A>C (p.Asn152His) | |
| 5 | g.140114635A>G | CA361490802 | PURA | c.454A>G (p.Asn152Asp) | |
| 5 | g.140114635A>T | CA361490803 | PURA | c.454A>T (p.Asn152Tyr) | |
| 5 | g.140114636A>C | CA361490804 | PURA | c.455A>C (p.Asn152Thr) | |
| 5 | g.140114636A>G | CA361490805 | PURA | c.455A>G (p.Asn152Ser) | |
| 5 | g.140114636A>T | CA361490806 | PURA | c.455A>T (p.Asn152Ile) | ClinVar dbSNP |
| 5 | g.140114637C>A | CA361490807 | PURA | c.456C>A (p.Asn152Lys) | |
| 5 | g.140114637C>G | CA361490808 | PURA | c.456C>G (p.Asn152Lys) | |
| 5 | g.140114637C>T | CA446830870 | PURA | c.456C>T (p.Asn152=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114638C>A | CA361490810 | PURA | c.457C>A (p.Arg153Ser) | |
| 5 | g.140114638C>G | CA361490811 | PURA | c.457C>G (p.Arg153Gly) | |
| 5 | g.140114638C>T | CA361490809 | PURA | c.457C>T (p.Arg153Cys) | COSMIC |
| 5 | g.140114639G>A | CA361490812 | PURA | c.458G>A (p.Arg153His) | ClinVar gnomAD v4 |
| 5 | g.140114639G>C | CA10588393 | PURA | c.458G>C (p.Arg153Pro) | ClinVar dbSNP |
| 5 | g.140114639G= | CA1586594658 | PURA | c.458G= (p.Arg153=) | |
| 5 | g.140114639G>T | CA361490813 | PURA | c.458G>T (p.Arg153Leu) | |
| 5 | g.140114640C>A | CA446830872 | PURA | c.459C>A (p.Arg153=) | |
| 5 | g.140114640C>G | CA446830874 | PURA | c.459C>G (p.Arg153=) | gnomAD v4 |
| 5 | g.140114640C>T | CA446830878 | PURA | c.459C>T (p.Arg153=) | |
| 5 | g.140114640dup | CA1139659100 | PURA | c.459dup (p.Lys154GlnfsTer?) | ClinVar dbSNP |
| 5 | g.140114641A>C | CA361490814 | PURA | c.460A>C (p.Lys154Gln) | |
| 5 | g.140114641A>G | CA361490815 | PURA | c.460A>G (p.Lys154Glu) | |
| 5 | g.140114641A>T | CA361490816 | PURA | c.460A>T (p.Lys154Ter) | |
| 5 | g.140114642A>C | CA361490819 | PURA | c.461A>C (p.Lys154Thr) | |
| 5 | g.140114642A>G | CA361490818 | PURA | c.461A>G (p.Lys154Arg) | ClinVar |
| 5 | g.140114642A>T | CA361490817 | PURA | c.461A>T (p.Lys154Met) | |
| 5 | g.140114643G>A | CA3437466 | PURA | c.462G>A (p.Lys154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114643G>C | CA361490820 | PURA | c.462G>C (p.Lys154Asn) | |
| 5 | g.140114643G= | CA1586594677 | PURA | c.462G= (p.Lys154=) | |
| 5 | g.140114643G>T | CA361490821 | PURA | c.462G>T (p.Lys154Asn) | gnomAD v4 |
| 5 | g.140114644T>A | CA361490822 | PURA | c.463T>A (p.Tyr155Asn) | |
| 5 | g.140114644T>C | CA361490823 | PURA | c.463T>C (p.Tyr155His) | |
| 5 | g.140114644T>G | CA361490824 | PURA | c.463T>G (p.Tyr155Asp) | |
| 5 | g.140114645A>C | CA361490825 | PURA | c.464A>C (p.Tyr155Ser) | |
| 5 | g.140114645A>G | CA361490827 | PURA | c.464A>G (p.Tyr155Cys) | |
| 5 | g.140114645A>T | CA361490826 | PURA | c.464A>T (p.Tyr155Phe) | |
| 5 | g.140114646C>A | CA361490828 | PURA | c.465C>A (p.Tyr155Ter) | |
| 5 | g.140114646C= | CA1586594681 | PURA | c.465C= (p.Tyr155=) | |
| 5 | g.140114646C>G | CA361490829 | PURA | c.465C>G (p.Tyr155Ter) | |
| 5 | g.140114646C>T | CA3437467 | PURA | c.465C>T (p.Tyr155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114647T>A | CA361490830 | PURA | c.466T>A (p.Tyr156Asn) | |
| 5 | g.140114647T>C | CA361490831 | PURA | c.466T>C (p.Tyr156His) | COSMIC |
| 5 | g.140114647T>G | CA361490832 | PURA | c.466T>G (p.Tyr156Asp) | |
| 5 | g.140114648A>C | CA361490833 | PURA | c.467A>C (p.Tyr156Ser) | |
| 5 | g.140114648A>G | CA361490834 | PURA | c.467A>G (p.Tyr156Cys) | ClinVar |
| 5 | g.140114648A>T | CA361490835 | PURA | c.467A>T (p.Tyr156Phe) | |
| 5 | g.140114649C>A | CA361490836 | PURA | c.468C>A (p.Tyr156Ter) | |
| 5 | g.140114649C= | CA1586594683 | PURA | c.468C= (p.Tyr156=) | |
| 5 | g.140114649C>G | CA361490837 | PURA | c.468C>G (p.Tyr156Ter) | |
| 5 | g.140114649C>T | CA3437468 | PURA | c.468C>T (p.Tyr156=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114650A>C | CA361490838 | PURA | c.469A>C (p.Met157Leu) | |
| 5 | g.140114650A>G | CA361490840 | PURA | c.469A>G (p.Met157Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114650A>T | CA361490839 | PURA | c.469A>T (p.Met157Leu) | |
| 5 | g.140114651T>A | CA249900 | PURA | c.470T>A (p.Met157Lys) | ClinVar dbSNP |
| 5 | g.140114651T>C | CA361490841 | PURA | c.470T>C (p.Met157Thr) | |
| 5 | g.140114651T>G | CA361490842 | PURA | c.470T>G (p.Met157Arg) | |
| 5 | g.140114651T= | CA1586594690 | PURA | c.470T= (p.Met157=) | |
| 5 | g.140114652G>A | CA361490843 | PURA | c.471G>A (p.Met157Ile) | |
| 5 | g.140114652G>C | CA361490844 | PURA | c.471G>C (p.Met157Ile) | |
| 5 | g.140114652G>T | CA361490845 | PURA | c.471G>T (p.Met157Ile) | |
| 5 | g.140114653G>A | CA361490846 | PURA | c.472G>A (p.Asp158Asn) | |
| 5 | g.140114653G>C | CA361490847 | PURA | c.472G>C (p.Asp158His) | |
| 5 | g.140114653G= | CA1586594706 | PURA | c.472G= (p.Asp158=) | |
| 5 | g.140114653G>T | CA204632 | PURA | c.472G>T (p.Asp158Tyr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114654A>C | CA361490848 | PURA | c.473A>C (p.Asp158Ala) | |
| 5 | g.140114654A>G | CA361490849 | PURA | c.473A>G (p.Asp158Gly) | |
| 5 | g.140114654A>T | CA361490850 | PURA | c.473A>T (p.Asp158Val) | |
| 5 | g.140114655T>A | CA361490852 | PURA | c.474T>A (p.Asp158Glu) | |
| 5 | g.140114655T>C | CA446830902 | PURA | c.474T>C (p.Asp158=) | |
| 5 | g.140114655T>G | CA361490851 | PURA | c.474T>G (p.Asp158Glu) | |
| 5 | g.140114656C>A | CA361490853 | PURA | c.475C>A (p.Leu159Ile) | gnomAD v4 |
| 5 | g.140114656C= | CA1586594720 | PURA | c.475C= (p.Leu159=) | |
| 5 | g.140114656C>G | CA361490854 | PURA | c.475C>G (p.Leu159Val) | ClinVar dbSNP |
| 5 | g.140114656C>T | CA361490855 | PURA | c.475C>T (p.Leu159Phe) | gnomAD v4 COSMIC |
| 5 | g.140114657T>A | CA361490856 | PURA | c.476T>A (p.Leu159His) | |
| 5 | g.140114657T>C | CA361490857 | PURA | c.476T>C (p.Leu159Pro) | |
| 5 | g.140114657T>G | CA361490858 | PURA | c.476T>G (p.Leu159Arg) | |
| 5 | g.140114658C>A | CA446830907 | PURA | c.477C>A (p.Leu159=) | gnomAD v4 |
| 5 | g.140114658C= | CA1586594728 | PURA | c.477C= (p.Leu159=) | |
| 5 | g.140114658C>G | CA446830908 | PURA | c.477C>G (p.Leu159=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114658C>T | CA446830910 | PURA | c.477C>T (p.Leu159=) | |
| 5 | g.140114658_140114661delinsCAAG | CA1586594731 | PURA | c.477_480delinsCAAG (p.Leu159=) | |
| 5 | g.140114659A>C | CA361490859 | PURA | c.478A>C (p.Lys160Gln) | ClinVar gnomAD v3 gnomAD v4 |
| 5 | g.140114659A>G | CA361490860 | PURA | c.478A>G (p.Lys160Glu) | ClinVar dbSNP |
| 5 | g.140114659A>T | CA361490861 | PURA | c.478A>T (p.Lys160Ter) | ClinVar |
| 5 | g.140114659_140114661del | CA1139659101 | PURA | c.478_480del (p.Lys160del) | ClinVar dbSNP |
| 5 | g.140114660A>C | CA361490862 | PURA | c.479A>C (p.Lys160Thr) | |
| 5 | g.140114660A>G | CA361490863 | PURA | c.479A>G (p.Lys160Arg) | |
| 5 | g.140114660A>T | CA361490864 | PURA | c.479A>T (p.Lys160Met) | |
| 5 | g.140114661G>A | CA3437469 | PURA | c.480G>A (p.Lys160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114661G>C | CA361490866 | PURA | c.480G>C (p.Lys160Asn) | |
| 5 | g.140114661G= | CA1586594744 | PURA | c.480G= (p.Lys160=) | |
| 5 | g.140114661G>T | CA361490865 | PURA | c.480G>T (p.Lys160Asn) | |
| 5 | g.140114662G>A | CA361490867 | PURA | c.481G>A (p.Glu161Lys) | |
| 5 | g.140114662G>C | CA361490869 | PURA | c.481G>C (p.Glu161Gln) | |
| 5 | g.140114662G>T | CA361490868 | PURA | c.481G>T (p.Glu161Ter) | |
| 5 | g.140114663A>C | CA361490870 | PURA | c.482A>C (p.Glu161Ala) | |
| 5 | g.140114663A>G | CA361490872 | PURA | c.482A>G (p.Glu161Gly) | |
| 5 | g.140114663A>T | CA361490871 | PURA | c.482A>T (p.Glu161Val) | |
| 5 | g.140114664G>A | CA446830915 | PURA | c.483G>A (p.Glu161=) | dbSNP gnomAD v4 |
| 5 | g.140114664G>C | CA361490873 | PURA | c.483G>C (p.Glu161Asp) | |
| 5 | g.140114664G= | CA1586594748 | PURA | c.483G= (p.Glu161=) | |
| 5 | g.140114664G>T | CA361490874 | PURA | c.483G>T (p.Glu161Asp) | |
| 5 | g.140114665A= | CA1586594751 | PURA | c.484A= (p.Asn162=) | |
| 5 | g.140114665A>C | CA361490875 | PURA | c.484A>C (p.Asn162His) | |
| 5 | g.140114665A>G | CA361490876 | PURA | c.484A>G (p.Asn162Asp) | ClinVar dbSNP |
| 5 | g.140114665A>T | CA361490877 | PURA | c.484A>T (p.Asn162Tyr) | |
| 5 | g.140114666A>C | CA361490878 | PURA | c.485A>C (p.Asn162Thr) | |
| 5 | g.140114666A>G | CA361490879 | PURA | c.485A>G (p.Asn162Ser) | |
| 5 | g.140114666A>T | CA361490880 | PURA | c.485A>T (p.Asn162Ile) | |
| 5 | g.140114667C>A | CA361490881 | PURA | c.486C>A (p.Asn162Lys) | gnomAD v4 |
| 5 | g.140114667C= | CA1586594764 | PURA | c.486C= (p.Asn162=) | |
| 5 | g.140114667C>G | CA361490882 | PURA | c.486C>G (p.Asn162Lys) | ClinVar dbSNP |
| 5 | g.140114667C>T | CA446830917 | PURA | c.486C>T (p.Asn162=) | gnomAD v4 |
| 5 | g.140114668C>A | CA361490885 | PURA | c.487C>A (p.Gln163Lys) | |
| 5 | g.140114668C= | CA1586594771 | PURA | c.487C= (p.Gln163=) | |
| 5 | g.140114668C>G | CA361490884 | PURA | c.487C>G (p.Gln163Glu) | |
| 5 | g.140114668C>T | CA361490883 | PURA | c.487C>T (p.Gln163Ter) | ClinVar dbSNP |
| 5 | g.140114669A>C | CA361490886 | PURA | c.488A>C (p.Gln163Pro) | |
| 5 | g.140114669A>G | CA361490887 | PURA | c.488A>G (p.Gln163Arg) | |
| 5 | g.140114669A>T | CA361490888 | PURA | c.488A>T (p.Gln163Leu) | |
| 5 | g.140114670G>A | CA446830921 | PURA | c.489G>A (p.Gln163=) | |
| 5 | g.140114670G>C | CA361490889 | PURA | c.489G>C (p.Gln163His) | |
| 5 | g.140114670G>T | CA361490890 | PURA | c.489G>T (p.Gln163His) | |
| 5 | g.140114674_140114688dup | CA2695205330 | PURA | c.493_507dup (p.Arg169_Ile170insGlyArgPheLeuArg) | |
| 5 | g.140114671C>A | CA361490891 | PURA | c.490C>A (p.Arg164Ser) | |
| 5 | g.140114671C>G | CA361490892 | PURA | c.490C>G (p.Arg164Gly) | |
| 5 | g.140114671C>T | CA361490893 | PURA | c.490C>T (p.Arg164Cys) | gnomAD v4 COSMIC |
| 5 | g.140114672G>A | CA361490894 | PURA | c.491G>A (p.Arg164His) | gnomAD v4 |
| 5 | g.140114672G>C | CA361490895 | PURA | c.491G>C (p.Arg164Pro) | |
| 5 | g.140114672G= | CA1586594779 | PURA | c.491G= (p.Arg164=) | |
| 5 | g.140114672G>T | CA361490896 | PURA | c.491G>T (p.Arg164Leu) | |
| 5 | g.140114673C>A | CA128789406 | PURA | c.492C>A (p.Arg164=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114673C= | CA1586594797 | PURA | c.492C= (p.Arg164=) | |
| 5 | g.140114673C>G | CA446830925 | PURA | c.492C>G (p.Arg164=) | |
| 5 | g.140114673C>T | CA3437470 | PURA | c.492C>T (p.Arg164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.140114675_140114678dup | CA891843400 | PURA | c.494_497dup (p.Phe167ProfsTer?) | ClinVar dbSNP |
| 5 | g.140114674G>A | CA361490897 | PURA | c.493G>A (p.Gly165Ser) | ClinVar dbSNP |
| 5 | g.140114674G>C | CA361490898 | PURA | c.493G>C (p.Gly165Arg) | ClinVar dbSNP |
| 5 | g.140114674G= | CA1586594817 | PURA | c.493G= (p.Gly165=) | |
| 5 | g.140114674G>T | CA361490899 | PURA | c.493G>T (p.Gly165Cys) | ClinVar |