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.140114585_140114614delinsCGCAGGACGAGCCGCGCCGGGCGCTCAAAA | CA1586594463 | PURA | c.404_433delinsCGCAGGACGAGCCGCGCCGGGCGCTCAAAA (p.Ala135=) | |
| 5 | g.140114588_140114616del | CA915942637 | PURA | c.407_435del (p.Gln136ArgfsTer?) | ClinVar dbSNP |
| 5 | g.140114610_140114613delinsCAAA | CA1586594579 | PURA | c.429_432delinsCAAA (p.Leu143=) | |
| 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 |
| 5 | g.140114675G>A | CA361490900 | PURA | c.494G>A (p.Gly165Asp) | ClinVar dbSNP |
| 5 | g.140114675G>C | CA361490901 | PURA | c.494G>C (p.Gly165Ala) | |
| 5 | g.140114675G>T | CA361490902 | PURA | c.494G>T (p.Gly165Val) | |
| 5 | g.140114676C>A | CA446830926 | PURA | c.495C>A (p.Gly165=) | |
| 5 | g.140114676C= | CA1586594828 | PURA | c.495C= (p.Gly165=) | |
| 5 | g.140114676C>G | CA446830927 | PURA | c.495C>G (p.Gly165=) | ClinVar dbSNP |
| 5 | g.140114676C>T | CA446830928 | PURA | c.495C>T (p.Gly165=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114680_140114694dup | CA891862595 | PURA | c.499_513dup (p.Arg171_Gln172insPheLeuArgIleArg) | |
| 5 | g.140114677C>A | CA361490903 | PURA | c.496C>A (p.Arg166Ser) | ClinVar dbSNP |
| 5 | g.140114677C= | CA1586594846 | PURA | c.496C= (p.Arg166=) | |
| 5 | g.140114677C>G | CA361490904 | PURA | c.496C>G (p.Arg166Gly) | |
| 5 | g.140114677C>T | CA361490905 | PURA | c.496C>T (p.Arg166Cys) | ClinVar dbSNP |
| 5 | g.140114678G>A | CA361490906 | PURA | c.497G>A (p.Arg166His) | |
| 5 | g.140114678G>C | CA361490907 | PURA | c.497G>C (p.Arg166Pro) | ClinVar |
| 5 | g.140114678G>T | CA361490908 | PURA | c.497G>T (p.Arg166Leu) | |
| 5 | g.140114679C>A | CA446830931 | PURA | c.498C>A (p.Arg166=) | |
| 5 | g.140114679C= | CA1586594864 | PURA | c.498C= (p.Arg166=) | |
| 5 | g.140114679C>G | CA3437472 | PURA | c.498C>G (p.Arg166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114679C>T | CA3437471 | PURA | c.498C>T (p.Arg166=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114680T>A | CA361490909 | PURA | c.499T>A (p.Phe167Ile) | |
| 5 | g.140114680T>C | CA361490910 | PURA | c.499T>C (p.Phe167Leu) | |
| 5 | g.140114680T>G | CA361490911 | PURA | c.499T>G (p.Phe167Val) | |
| 5 | g.140114681T>A | CA361490912 | PURA | c.500T>A (p.Phe167Tyr) | |
| 5 | g.140114681T>C | CA361490913 | PURA | c.500T>C (p.Phe167Ser) | |
| 5 | g.140114681T>G | CA361490914 | PURA | c.500T>G (p.Phe167Cys) | |
| 5 | g.140114682C>A | CA361490915 | PURA | c.501C>A (p.Phe167Leu) | |
| 5 | g.140114682C>G | CA361490916 | PURA | c.501C>G (p.Phe167Leu) | ClinVar dbSNP |
| 5 | g.140114682C>T | CA446830936 | PURA | c.501C>T (p.Phe167=) | |
| 5 | g.140114683dup | CA2499217691 | PURA | c.502dup (p.Leu168ProfsTer?) | ClinVar dbSNP |
| 5 | g.140114683del | CA2695205331 | PURA | c.502del (p.Leu168CysfsTer?) | |
| 5 | g.140114683C>A | CA361490917 | PURA | c.502C>A (p.Leu168Met) | |
| 5 | g.140114683C= | CA1586594869 | PURA | c.502C= (p.Leu168=) | |
| 5 | g.140114683C>G | CA361490918 | PURA | c.502C>G (p.Leu168Val) | |
| 5 | g.140114683C>T | CA446830937 | PURA | c.502C>T (p.Leu168=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114684T>A | CA361490919 | PURA | c.503T>A (p.Leu168Gln) | |
| 5 | g.140114684T>C | CA361490920 | PURA | c.503T>C (p.Leu168Pro) | ClinVar dbSNP |
| 5 | g.140114684T>G | CA361490921 | PURA | c.503T>G (p.Leu168Arg) | |
| 5 | g.140114684T= | CA1586594875 | PURA | c.503T= (p.Leu168=) | |
| 5 | g.140114685G>A | CA446830938 | PURA | c.504G>A (p.Leu168=) | gnomAD v4 |
| 5 | g.140114685G>C | CA446830939 | PURA | c.504G>C (p.Leu168=) | |
| 5 | g.140114685G>T | CA446830940 | PURA | c.504G>T (p.Leu168=) | |
| 5 | g.140114685_140114686delinsGC | CA1586594887 | PURA | c.504_505delinsGC (p.Leu168=) | |
| 5 | g.140114685_140114686delinsTT | CA645372804 | PURA | c.504_505delinsTT (p.Arg169Cys) | ClinVar dbSNP |
| 5 | g.140114686C>A | CA361490923 | PURA | c.505C>A (p.Arg169Ser) | |
| 5 | g.140114686C>G | CA361490924 | PURA | c.505C>G (p.Arg169Gly) | |
| 5 | g.140114686C>T | CA361490922 | PURA | c.505C>T (p.Arg169Cys) | |
| 5 | g.140114687G>A | CA361490927 | PURA | c.506G>A (p.Arg169His) | gnomAD v4 |
| 5 | g.140114687G>C | CA361490925 | PURA | c.506G>C (p.Arg169Pro) | ClinVar dbSNP |
| 5 | g.140114687G= | CA1586594899 | PURA | c.506G= (p.Arg169=) | |
| 5 | g.140114687G>T | CA361490926 | PURA | c.506G>T (p.Arg169Leu) | |
| 5 | g.140114687_140114694delinsGCATCCGC | CA1586594898 | PURA | c.506_513delinsGCATCCGC (p.Arg169=) | |
| 5 | g.140114688C>A | CA446830945 | PURA | c.507C>A (p.Arg169=) | |
| 5 | g.140114688C= | CA1586594917 | PURA | c.507C= (p.Arg169=) | |
| 5 | g.140114688C>G | CA446830944 | PURA | c.507C>G (p.Arg169=) | |
| 5 | g.140114688C>T | CA446830943 | PURA | c.507C>T (p.Arg169=) | dbSNP |
| 5 | g.140114690_140114696del | CA10585984 | PURA | c.509_515del (p.Ile170ArgfsTer?) | ClinVar dbSNP |
| 5 | g.140114689A>C | CA361490928 | PURA | c.508A>C (p.Ile170Leu) | |
| 5 | g.140114689A>G | CA361490929 | PURA | c.508A>G (p.Ile170Val) | gnomAD v4 |
| 5 | g.140114689A>T | CA361490930 | PURA | c.508A>T (p.Ile170Phe) | ClinVar |
| 5 | g.140114690T>A | CA361490931 | PURA | c.509T>A (p.Ile170Asn) | |
| 5 | g.140114690T>C | CA361490932 | PURA | c.509T>C (p.Ile170Thr) | |
| 5 | g.140114690T>G | CA361490933 | PURA | c.509T>G (p.Ile170Ser) | ClinVar dbSNP |
| 5 | g.140114690T= | CA1586594919 | PURA | c.509T= (p.Ile170=) | |
| 5 | g.140114691C>A | CA446830947 | PURA | c.510C>A (p.Ile170=) | |
| 5 | g.140114691C= | CA1586594925 | PURA | c.510C= (p.Ile170=) | |
| 5 | g.140114691C>G | CA361490934 | PURA | c.510C>G (p.Ile170Met) | dbSNP |
| 5 | g.140114691C>T | CA446830948 | PURA | c.510C>T (p.Ile170=) | |
| 5 | g.140114692C>A | CA361490935 | PURA | c.511C>A (p.Arg171Ser) | |
| 5 | g.140114692C= | CA1586594933 | PURA | c.511C= (p.Arg171=) | |
| 5 | g.140114692C>G | CA361490936 | PURA | c.511C>G (p.Arg171Gly) | ClinVar dbSNP |
| 5 | g.140114692C>T | CA361490937 | PURA | c.511C>T (p.Arg171Cys) | |
| 5 | g.140114693G>A | CA361490940 | PURA | c.512G>A (p.Arg171His) | gnomAD v4 |
| 5 | g.140114693G>C | CA361490938 | PURA | c.512G>C (p.Arg171Pro) | ClinVar dbSNP |
| 5 | g.140114693G>T | CA361490939 | PURA | c.512G>T (p.Arg171Leu) | |
| 5 | g.140114696_140114714del | CA2768634947 | PURA | c.515_533del (p.Gln172LeufsTer?) | |
| 5 | g.140114694C>A | CA446830951 | PURA | c.513C>A (p.Arg171=) | |
| 5 | g.140114694C= | CA1586594940 | PURA | c.513C= (p.Arg171=) | |
| 5 | g.140114694C>G | CA446830952 | PURA | c.513C>G (p.Arg171=) | |
| 5 | g.140114694C>T | CA128789407 | PURA | c.513C>T (p.Arg171=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114695C>A | CA361490941 | PURA | c.514C>A (p.Gln172Lys) | |
| 5 | g.140114695C>G | CA361490942 | PURA | c.514C>G (p.Gln172Glu) | |
| 5 | g.140114695C>T | CA361490943 | PURA | c.514C>T (p.Gln172Ter) | |
| 5 | g.140114696A>C | CA361490944 | PURA | c.515A>C (p.Gln172Pro) | |
| 5 | g.140114696A>G | CA361490945 | PURA | c.515A>G (p.Gln172Arg) | |
| 5 | g.140114696A>T | CA361490946 | PURA | c.515A>T (p.Gln172Leu) | |
| 5 | g.140114697G>A | CA446830955 | PURA | c.516G>A (p.Gln172=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114697G>C | CA361490947 | PURA | c.516G>C (p.Gln172His) | |
| 5 | g.140114697G= | CA1586594944 | PURA | c.516G= (p.Gln172=) | |
| 5 | g.140114697G>T | CA361490948 | PURA | c.516G>T (p.Gln172His) | |
| 5 | g.140114698A= | CA1586594953 | PURA | c.517A= (p.Thr173=) | |
| 5 | g.140114698A>C | CA361490949 | PURA | c.517A>C (p.Thr173Pro) | |
| 5 | g.140114698A>G | CA361490950 | PURA | c.517A>G (p.Thr173Ala) | ClinVar dbSNP |
| 5 | g.140114698A>T | CA361490951 | PURA | c.517A>T (p.Thr173Ser) | |
| 5 | g.140114699C>A | CA361490953 | PURA | c.518C>A (p.Thr173Lys) | ClinVar dbSNP |
| 5 | g.140114699C= | CA1586594959 | PURA | c.518C= (p.Thr173=) | |
| 5 | g.140114699C>G | CA361490952 | PURA | c.518C>G (p.Thr173Arg) | |
| 5 | g.140114699C>T | CA128789408 | PURA | c.518C>T (p.Thr173Met) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114700G>A | CA3437473 | PURA | c.519G>A (p.Thr173=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.140114700G>C | CA446830956 | PURA | c.519G>C (p.Thr173=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114700G= | CA1586594966 | PURA | c.519G= (p.Thr173=) | |
| 5 | g.140114700G>T | CA446830957 | PURA | c.519G>T (p.Thr173=) | gnomAD v4 |
| 5 | g.140114701G>A | CA361490954 | PURA | c.520G>A (p.Val174Ile) | gnomAD v4 |
| 5 | g.140114701G>C | CA3437474 | PURA | c.520G>C (p.Val174Leu) | dbSNP ExAC gnomAD v2 |
| 5 | g.140114701G= | CA1586594968 | PURA | c.520G= (p.Val174=) | |
| 5 | g.140114701G>T | CA361490955 | PURA | c.520G>T (p.Val174Phe) | |
| 5 | g.140114702T>A | CA361490956 | PURA | c.521T>A (p.Val174Asp) | |
| 5 | g.140114702T>C | CA128789409 | PURA | c.521T>C (p.Val174Ala) | dbSNP |
| 5 | g.140114702T>G | CA361490957 | PURA | c.521T>G (p.Val174Gly) | |
| 5 | g.140114702T= | CA1586594976 | PURA | c.521T= (p.Val174=) | |
| 5 | g.140114702dup | CA2695205332 | PURA | c.521dup (p.Asn175GlnfsTer26) | |
| 5 | g.140114703C>A | CA446830958 | PURA | c.522C>A (p.Val174=) | gnomAD v4 |
| 5 | g.140114703C= | CA1586594977 | PURA | c.522C= (p.Val174=) | |
| 5 | g.140114703C>G | CA446830959 | PURA | c.522C>G (p.Val174=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114703C>T | CA446830960 | PURA | c.522C>T (p.Val174=) | gnomAD v4 |
| 5 | g.140114704A>C | CA361490958 | PURA | c.523A>C (p.Asn175His) | |
| 5 | g.140114704A>G | CA361490959 | PURA | c.523A>G (p.Asn175Asp) | |
| 5 | g.140114704A>T | CA361490960 | PURA | c.523A>T (p.Asn175Tyr) | |
| 5 | g.140114705A>C | CA361490961 | PURA | c.524A>C (p.Asn175Thr) | |
| 5 | g.140114705A>G | CA361490962 | PURA | c.524A>G (p.Asn175Ser) | ClinVar |
| 5 | g.140114705A>T | CA361490963 | PURA | c.524A>T (p.Asn175Ile) | |
| 5 | g.140114706C>A | CA361490965 | PURA | c.525C>A (p.Asn175Lys) | |
| 5 | g.140114706C= | CA1586594983 | PURA | c.525C= (p.Asn175=) | |
| 5 | g.140114706C>G | CA361490964 | PURA | c.525C>G (p.Asn175Lys) | gnomAD v4 |
| 5 | g.140114706C>T | CA3437475 | PURA | c.525C>T (p.Asn175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.140114707C>A | CA446830961 | PURA | c.526C>A (p.Arg176=) | gnomAD v4 |
| 5 | g.140114707C= | CA1586594990 | PURA | c.526C= (p.Arg176=) | |
| 5 | g.140114707C>G | CA361490966 | PURA | c.526C>G (p.Arg176Gly) | |
| 5 | g.140114707C>T | CA361490967 | PURA | c.526C>T (p.Arg176Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114708G>A | CA361490968 | PURA | c.527G>A (p.Arg176Gln) | |
| 5 | g.140114708G>C | CA361490969 | PURA | c.527G>C (p.Arg176Pro) | gnomAD v4 |
| 5 | g.140114708G>T | CA361490970 | PURA | c.527G>T (p.Arg176Leu) | gnomAD v4 |
| 5 | g.140114712dup | CA2739289801 | PURA | c.531dup (p.Pro178AlafsTer23) | |
| 5 | g.140114711_140114712dup | CA2573052438 | PURA | c.530_531dup (p.Pro178GlyfsTer?) | ClinVar dbSNP |
| 5 | g.140114712del | CA2499217692 | PURA | c.531del (p.Pro178LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114709G>A | CA446830965 | PURA | c.528G>A (p.Arg176=) | |
| 5 | g.140114709G>C | CA3437476 | PURA | c.528G>C (p.Arg176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114709G= | CA1586594996 | PURA | c.528G= (p.Arg176=) | |
| 5 | g.140114709G>T | CA446830966 | PURA | c.528G>T (p.Arg176=) | |
| 5 | g.140114710G>A | CA361490971 | PURA | c.529G>A (p.Gly177Arg) | |
| 5 | g.140114710G>C | CA361490972 | PURA | c.529G>C (p.Gly177Arg) | |
| 5 | g.140114710G>T | CA361490973 | PURA | c.529G>T (p.Gly177Trp) | |
| 5 | g.140114715_140114737dup | CA1139659102 | PURA | c.534_556dup (p.Gln186LeufsTer?) | ClinVar dbSNP |
| 5 | g.140114711G>A | CA361490974 | PURA | c.530G>A (p.Gly177Glu) | gnomAD v4 |
| 5 | g.140114711G>C | CA361490975 | PURA | c.530G>C (p.Gly177Ala) | |
| 5 | g.140114711G>T | CA361490976 | PURA | c.530G>T (p.Gly177Val) | gnomAD v4 |
| 5 | g.140114712G>A | CA446830967 | PURA | c.531G>A (p.Gly177=) | gnomAD v4 |
| 5 | g.140114712G>C | CA3437477 | PURA | c.531G>C (p.Gly177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114712G= | CA1586595020 | PURA | c.531G= (p.Gly177=) | |
| 5 | g.140114712G>T | CA446830969 | PURA | c.531G>T (p.Gly177=) | gnomAD v4 |