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.140114696_140114714del | CA2768634947 | PURA | c.515_533del (p.Gln172LeufsTer?) | |
| 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 |
| 5 | g.140114713C>A | CA361490979 | PURA | c.532C>A (p.Pro178Thr) | |
| 5 | g.140114713C= | CA1586595035 | PURA | c.532C= (p.Pro178=) | |
| 5 | g.140114713C>G | CA361490978 | PURA | c.532C>G (p.Pro178Ala) | |
| 5 | g.140114713C>T | CA361490977 | PURA | c.532C>T (p.Pro178Ser) | |
| 5 | g.140114714dup | CA1139659103 | PURA | c.533dup (p.Gly179TrpfsTer22) | ClinVar dbSNP |
| 5 | g.140114714C>A | CA361490981 | PURA | c.533C>A (p.Pro178His) | |
| 5 | g.140114714C>G | CA361490980 | PURA | c.533C>G (p.Pro178Arg) | |
| 5 | g.140114714C>T | CA361490982 | PURA | c.533C>T (p.Pro178Leu) | |
| 5 | g.140114715_140114736dup | CA915942640 | PURA | c.534_555dup (p.Gln186TrpfsTer22) | ClinVar dbSNP |
| 5 | g.140114715T>A | CA446830973 | PURA | c.534T>A (p.Pro178=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114715T>C | CA446830972 | PURA | c.534T>C (p.Pro178=) | dbSNP gnomAD v2 COSMIC |
| 5 | g.140114715T>G | CA446830971 | PURA | c.534T>G (p.Pro178=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114715T= | CA1586595044 | PURA | c.534T= (p.Pro178=) | |
| 5 | g.140114716G>A | CA361490983 | PURA | c.535G>A (p.Gly179Ser) | gnomAD v4 |
| 5 | g.140114716G>C | CA361490985 | PURA | c.535G>C (p.Gly179Arg) | |
| 5 | g.140114716G>T | CA361490984 | PURA | c.535G>T (p.Gly179Cys) | |
| 5 | g.140114717G>A | CA361490986 | PURA | c.536G>A (p.Gly179Asp) | |
| 5 | g.140114717G>C | CA361490988 | PURA | c.536G>C (p.Gly179Ala) | |
| 5 | g.140114717G>T | CA361490987 | PURA | c.536G>T (p.Gly179Val) | |
| 5 | g.140114718C>A | CA446830980 | PURA | c.537C>A (p.Gly179=) | |
| 5 | g.140114718C= | CA1586595059 | PURA | c.537C= (p.Gly179=) | |
| 5 | g.140114718C>G | CA3437478 | PURA | c.537C>G (p.Gly179=) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.140114718C>T | CA446830977 | PURA | c.537C>T (p.Gly179=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114719C>A | CA361490989 | PURA | c.538C>A (p.Leu180Met) | |
| 5 | g.140114719C= | CA1586595063 | PURA | c.538C= (p.Leu180=) | |
| 5 | g.140114719C>G | CA361490990 | PURA | c.538C>G (p.Leu180Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114719C>T | CA446830981 | PURA | c.538C>T (p.Leu180=) | dbSNP gnomAD v4 |
| 5 | g.140114721_140114725dup | CA2695198761 | PURA | c.540_544dup (p.Ser182TrpfsTer?) | ClinVar |
| 5 | g.140114720T>A | CA361490991 | PURA | c.539T>A (p.Leu180Gln) | |
| 5 | g.140114720T>C | CA128789410 | PURA | c.539T>C (p.Leu180Pro) | dbSNP |
| 5 | g.140114720T>G | CA361490992 | PURA | c.539T>G (p.Leu180Arg) | |
| 5 | g.140114720T= | CA1586595071 | PURA | c.539T= (p.Leu180=) | |
| 5 | g.140114721G>A | CA446830982 | PURA | c.540G>A (p.Leu180=) | |
| 5 | g.140114721G>C | CA446830984 | PURA | c.540G>C (p.Leu180=) | |
| 5 | g.140114721G>T | CA446830983 | PURA | c.540G>T (p.Leu180=) | |
| 5 | g.140114722G>A | CA361490993 | PURA | c.541G>A (p.Gly181Ser) | gnomAD v4 |
| 5 | g.140114722G>C | CA361490994 | PURA | c.541G>C (p.Gly181Arg) | |
| 5 | g.140114722G>T | CA361490995 | PURA | c.541G>T (p.Gly181Cys) | |
| 5 | g.140114723G>A | CA361490996 | PURA | c.542G>A (p.Gly181Asp) | |
| 5 | g.140114723G>C | CA361490997 | PURA | c.542G>C (p.Gly181Ala) | |
| 5 | g.140114723G>T | CA361490998 | PURA | c.542G>T (p.Gly181Val) | |
| 5 | g.140114724C>A | CA3437480 | PURA | c.543C>A (p.Gly181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114724C= | CA1586595077 | PURA | c.543C= (p.Gly181=) | |
| 5 | g.140114724C>G | CA446830987 | PURA | c.543C>G (p.Gly181=) | |
| 5 | g.140114724C>T | CA3437479 | PURA | c.543C>T (p.Gly181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114725T>A | CA361490999 | PURA | c.544T>A (p.Ser182Thr) | |
| 5 | g.140114725T>C | CA361491000 | PURA | c.544T>C (p.Ser182Pro) | dbSNP |
| 5 | g.140114725T>G | CA361491001 | PURA | c.544T>G (p.Ser182Ala) | |
| 5 | g.140114725T= | CA1586595089 | PURA | c.544T= (p.Ser182=) | |
| 5 | g.140114726C>A | CA361491002 | PURA | c.545C>A (p.Ser182Tyr) | |
| 5 | g.140114726C>G | CA361491003 | PURA | c.545C>G (p.Ser182Cys) | |
| 5 | g.140114726C>T | CA361491004 | PURA | c.545C>T (p.Ser182Phe) | |
| 5 | g.140114727C>A | CA446830992 | PURA | c.546C>A (p.Ser182=) | |
| 5 | g.140114727C>G | CA446830994 | PURA | c.546C>G (p.Ser182=) | |
| 5 | g.140114727C>T | CA446830995 | PURA | c.546C>T (p.Ser182=) | |
| 5 | g.140114728A= | CA1586595094 | PURA | c.547A= (p.Thr183=) | |
| 5 | g.140114728A>C | CA361491005 | PURA | c.547A>C (p.Thr183Pro) | |
| 5 | g.140114728A>G | CA361491006 | PURA | c.547A>G (p.Thr183Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114728A>T | CA361491007 | PURA | c.547A>T (p.Thr183Ser) | |
| 5 | g.140114729C>A | CA361491008 | PURA | c.548C>A (p.Thr183Lys) | |
| 5 | g.140114729C>G | CA361491009 | PURA | c.548C>G (p.Thr183Arg) | gnomAD v4 |
| 5 | g.140114729C>T | CA361491010 | PURA | c.548C>T (p.Thr183Met) | |
| 5 | g.140114730G>A | CA3437481 | PURA | c.549G>A (p.Thr183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114730G>C | CA446830996 | PURA | c.549G>C (p.Thr183=) | |
| 5 | g.140114730G= | CA1586595099 | PURA | c.549G= (p.Thr183=) | |
| 5 | g.140114730G>T | CA446830997 | PURA | c.549G>T (p.Thr183=) | dbSNP |
| 5 | g.140114731C>A | CA361491013 | PURA | c.550C>A (p.Gln184Lys) | |
| 5 | g.140114731C>G | CA361491011 | PURA | c.550C>G (p.Gln184Glu) | |
| 5 | g.140114731C>T | CA361491012 | PURA | c.550C>T (p.Gln184Ter) | |
| 5 | g.140114732A>C | CA361491014 | PURA | c.551A>C (p.Gln184Pro) | |
| 5 | g.140114732A>G | CA361491015 | PURA | c.551A>G (p.Gln184Arg) | |
| 5 | g.140114732A>T | CA361491016 | PURA | c.551A>T (p.Gln184Leu) | |
| 5 | g.140114733G>A | CA128789411 | PURA | c.552G>A (p.Gln184=) | dbSNP |
| 5 | g.140114733G>C | CA361491017 | PURA | c.552G>C (p.Gln184His) | |
| 5 | g.140114733G= | CA1586595102 | PURA | c.552G= (p.Gln184=) | |
| 5 | g.140114733G>T | CA361491018 | PURA | c.552G>T (p.Gln184His) | |
| 5 | g.140114734G>A | CA361491019 | PURA | c.553G>A (p.Gly185Ser) | |
| 5 | g.140114734G>C | CA361491020 | PURA | c.553G>C (p.Gly185Arg) | |
| 5 | g.140114734G>T | CA361491021 | PURA | c.553G>T (p.Gly185Cys) | |
| 5 | g.140114735G>A | CA361491022 | PURA | c.554G>A (p.Gly185Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114735G>C | CA361491023 | PURA | c.554G>C (p.Gly185Ala) | |
| 5 | g.140114735G= | CA1586595109 | PURA | c.554G= (p.Gly185=) | |
| 5 | g.140114735G>T | CA361491024 | PURA | c.554G>T (p.Gly185Val) | |
| 5 | g.140114736C>A | CA446831001 | PURA | c.555C>A (p.Gly185=) | |
| 5 | g.140114736C>G | CA446831002 | PURA | c.555C>G (p.Gly185=) | |
| 5 | g.140114736C>T | CA446831003 | PURA | c.555C>T (p.Gly185=) | gnomAD v4 |
| 5 | g.140114737C>A | CA361491026 | PURA | c.556C>A (p.Gln186Lys) | |
| 5 | g.140114737C= | CA1586595112 | PURA | c.556C= (p.Gln186=) | |
| 5 | g.140114737C>G | CA361491025 | PURA | c.556C>G (p.Gln186Glu) | |
| 5 | g.140114737C>T | CA174992 | PURA | c.556C>T (p.Gln186Ter) | ClinVar dbSNP |
| 5 | g.140114738A>C | CA361491027 | PURA | c.557A>C (p.Gln186Pro) | |
| 5 | g.140114738A>G | CA361491028 | PURA | c.557A>G (p.Gln186Arg) | |
| 5 | g.140114738A>T | CA361491029 | PURA | c.557A>T (p.Gln186Leu) | |
| 5 | g.140114739G>A | CA446831005 | PURA | c.558G>A (p.Gln186=) | |
| 5 | g.140114739G>C | CA361491030 | PURA | c.558G>C (p.Gln186His) | |
| 5 | g.140114739G>T | CA361491031 | PURA | c.558G>T (p.Gln186His) | |
| 5 | g.140114740A= | CA1586595117 | PURA | c.559A= (p.Thr187=) | |
| 5 | g.140114740A>C | CA361491032 | PURA | c.559A>C (p.Thr187Pro) | |
| 5 | g.140114740A>G | CA361491033 | PURA | c.559A>G (p.Thr187Ala) | dbSNP gnomAD v2 |
| 5 | g.140114740A>T | CA361491034 | PURA | c.559A>T (p.Thr187Ser) | |
| 5 | g.140114741C>A | CA361491035 | PURA | c.560C>A (p.Thr187Asn) | gnomAD v4 |
| 5 | g.140114741C>G | CA361491036 | PURA | c.560C>G (p.Thr187Ser) | |
| 5 | g.140114741C>T | CA361491037 | PURA | c.560C>T (p.Thr187Ile) | |
| 5 | g.140114742C>A | CA446831012 | PURA | c.561C>A (p.Thr187=) | |
| 5 | g.140114742C= | CA1586595122 | PURA | c.561C= (p.Thr187=) | |
| 5 | g.140114742C>G | CA446831010 | PURA | c.561C>G (p.Thr187=) | dbSNP |
| 5 | g.140114742C>T | CA128789412 | PURA | c.561C>T (p.Thr187=) | dbSNP gnomAD v4 |
| 5 | g.140114744_140114759del | CA2573052440 | PURA | c.563_578del (p.Ile188ArgfsTer?) | ClinVar dbSNP |
| 5 | g.140114743A>C | CA361491040 | PURA | c.562A>C (p.Ile188Leu) | |
| 5 | g.140114743A>G | CA361491039 | PURA | c.562A>G (p.Ile188Val) | |
| 5 | g.140114743A>T | CA361491038 | PURA | c.562A>T (p.Ile188Phe) | |
| 5 | g.140114744T>A | CA361491041 | PURA | c.563T>A (p.Ile188Asn) | |
| 5 | g.140114744T>C | CA090963 | PURA | c.563T>C (p.Ile188Thr) | ClinVar dbSNP |
| 5 | g.140114744T>G | CA361491042 | PURA | c.563T>G (p.Ile188Ser) | |
| 5 | g.140114744T= | CA1586595133 | PURA | c.563T= (p.Ile188=) | |
| 5 | g.140114745T>A | CA446831013 | PURA | c.564T>A (p.Ile188=) | |
| 5 | g.140114745T>C | CA446831015 | PURA | c.564T>C (p.Ile188=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114745T>G | CA361491043 | PURA | c.564T>G (p.Ile188Met) | |
| 5 | g.140114745T= | CA1586595144 | PURA | c.564T= (p.Ile188=) | |
| 5 | g.140114746G>A | CA361491044 | PURA | c.565G>A (p.Ala189Thr) | |
| 5 | g.140114746G>C | CA361491045 | PURA | c.565G>C (p.Ala189Pro) | ClinVar dbSNP |
| 5 | g.140114746G= | CA1586595156 | PURA | c.565G= (p.Ala189=) | |
| 5 | g.140114746G>T | CA361491046 | PURA | c.565G>T (p.Ala189Ser) | |
| 5 | g.140114747C>A | CA361491047 | PURA | c.566C>A (p.Ala189Glu) | |
| 5 | g.140114747C>G | CA361491048 | PURA | c.566C>G (p.Ala189Gly) | |
| 5 | g.140114747C>T | CA361491049 | PURA | c.566C>T (p.Ala189Val) | COSMIC |
| 5 | g.140114748G>A | CA446831019 | PURA | c.567G>A (p.Ala189=) | dbSNP gnomAD v2 |
| 5 | g.140114748G>C | CA446831021 | PURA | c.567G>C (p.Ala189=) | |
| 5 | g.140114748G= | CA1586595159 | PURA | c.567G= (p.Ala189=) | |
| 5 | g.140114748G>T | CA446831020 | PURA | c.567G>T (p.Ala189=) | gnomAD v4 |
| 5 | g.140114749C>A | CA361491050 | PURA | c.568C>A (p.Leu190Met) | |
| 5 | g.140114749C>G | CA361491051 | PURA | c.568C>G (p.Leu190Val) | |
| 5 | g.140114749C>T | CA446831023 | PURA | c.568C>T (p.Leu190=) | gnomAD v4 |
| 5 | g.140114750T>A | CA361491052 | PURA | c.569T>A (p.Leu190Gln) | |
| 5 | g.140114750T>C | CA361491053 | PURA | c.569T>C (p.Leu190Pro) | |
| 5 | g.140114750T>G | CA361491054 | PURA | c.569T>G (p.Leu190Arg) | |
| 5 | g.140114751G>A | CA3437482 | PURA | c.570G>A (p.Leu190=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114751G>C | CA446831024 | PURA | c.570G>C (p.Leu190=) | dbSNP |
| 5 | g.140114751G= | CA1586595165 | PURA | c.570G= (p.Leu190=) | |
| 5 | g.140114751G>T | CA446831026 | PURA | c.570G>T (p.Leu190=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114752C>A | CA361491055 | PURA | c.571C>A (p.Pro191Thr) | |
| 5 | g.140114752C>G | CA361491057 | PURA | c.571C>G (p.Pro191Ala) | |
| 5 | g.140114752C>T | CA361491056 | PURA | c.571C>T (p.Pro191Ser) | |
| 5 | g.140114753C>A | CA361491058 | PURA | c.572C>A (p.Pro191His) | |
| 5 | g.140114753C= | CA1586595175 | PURA | c.572C= (p.Pro191=) | |
| 5 | g.140114753C>G | CA361491059 | PURA | c.572C>G (p.Pro191Arg) | |
| 5 | g.140114753C>T | CA16618127 | PURA | c.572C>T (p.Pro191Leu) | ClinVar dbSNP |
| 5 | g.140114754C>A | CA446831032 | PURA | c.573C>A (p.Pro191=) | |
| 5 | g.140114754C= | CA1586595186 | PURA | c.573C= (p.Pro191=) | |
| 5 | g.140114754C>G | CA446831034 | PURA | c.573C>G (p.Pro191=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114754C>T | CA128789413 | PURA | c.573C>T (p.Pro191=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114755G>A | CA361491060 | PURA | c.574G>A (p.Ala192Thr) | |
| 5 | g.140114755G>C | CA361491061 | PURA | c.574G>C (p.Ala192Pro) | |
| 5 | g.140114755G>T | CA361491062 | PURA | c.574G>T (p.Ala192Ser) | |
| 5 | g.140114756C>A | CA361491063 | PURA | c.575C>A (p.Ala192Glu) | |
| 5 | g.140114756C>G | CA361491064 | PURA | c.575C>G (p.Ala192Gly) | |
| 5 | g.140114756C>T | CA361491065 | PURA | c.575C>T (p.Ala192Val) | |
| 5 | g.140114757G>A | CA446831038 | PURA | c.576G>A (p.Ala192=) | dbSNP gnomAD v2 COSMIC |
| 5 | g.140114757G>C | CA446831039 | PURA | c.576G>C (p.Ala192=) | |
| 5 | g.140114757G= | CA1586595203 | PURA | c.576G= (p.Ala192=) | |
| 5 | g.140114757G>T | CA3437483 | PURA | c.576G>T (p.Ala192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114758C>A | CA361491068 | PURA | c.577C>A (p.Gln193Lys) | gnomAD v4 |
| 5 | g.140114758C>G | CA361491067 | PURA | c.577C>G (p.Gln193Glu) | |
| 5 | g.140114758C>T | CA361491066 | PURA | c.577C>T (p.Gln193Ter) | ClinVar |
| 5 | g.140114759A>C | CA361491069 | PURA | c.578A>C (p.Gln193Pro) | |
| 5 | g.140114759A>G | CA361491070 | PURA | c.578A>G (p.Gln193Arg) | |
| 5 | g.140114759A>T | CA361491071 | PURA | c.578A>T (p.Gln193Leu) | |
| 5 | g.140114760G>A | CA446831044 | PURA | c.579G>A (p.Gln193=) | gnomAD v4 |
| 5 | g.140114760G>C | CA361491072 | PURA | c.579G>C (p.Gln193His) | |
| 5 | g.140114760G>T | CA361491073 | PURA | c.579G>T (p.Gln193His) | |
| 5 | g.140114761G>A | CA361491076 | PURA | c.580G>A (p.Gly194Arg) | |
| 5 | g.140114761G>C | CA361491075 | PURA | c.580G>C (p.Gly194Arg) | |
| 5 | g.140114761G>T | CA361491074 | PURA | c.580G>T (p.Gly194Trp) | |
| 5 | g.140114762G>A | CA361491077 | PURA | c.581G>A (p.Gly194Glu) | |
| 5 | g.140114762G>C | CA361491078 | PURA | c.581G>C (p.Gly194Ala) | |
| 5 | g.140114762G>T | CA361491079 | PURA | c.581G>T (p.Gly194Val) | |
| 5 | g.140114763G>A | CA446831049 | PURA | c.582G>A (p.Gly194=) | |
| 5 | g.140114763G>C | CA446831048 | PURA | c.582G>C (p.Gly194=) | ClinVar dbSNP COSMIC |
| 5 | g.140114763G= | CA1586595210 | PURA | c.582G= (p.Gly194=) | |
| 5 | g.140114763G>T | CA128789414 | PURA | c.582G>T (p.Gly194=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.140114764C>A | CA361491080 | PURA | c.583C>A (p.Leu195Ile) | |
| 5 | g.140114764C>G | CA361491081 | PURA | c.583C>G (p.Leu195Val) | |
| 5 | g.140114764C>T | CA361491082 | PURA | c.583C>T (p.Leu195Phe) | |
| 5 | g.140114764_140114783del | CA2580072967 | PURA | c.583_602del (p.Leu195SerfsTer?) | ClinVar |
| 5 | g.140114765T>A | CA361491083 | PURA | c.584T>A (p.Leu195His) | ClinVar dbSNP |
| 5 | g.140114765T>C | CA361491085 | PURA | c.584T>C (p.Leu195Pro) | |
| 5 | g.140114765T>G | CA361491084 | PURA | c.584T>G (p.Leu195Arg) | |
| 5 | g.140114765T= | CA1586595231 | PURA | c.584T= (p.Leu195=) | |
| 5 | g.140114767_140114769del | CA2739289802 | PURA | c.586_588del (p.Ile196del) | ClinVar |
| 5 | g.140114766C>A | CA446831050 | PURA | c.585C>A (p.Leu195=) | |
| 5 | g.140114766C= | CA1586595241 | PURA | c.585C= (p.Leu195=) | |
| 5 | g.140114766C>G | CA446831051 | PURA | c.585C>G (p.Leu195=) | ClinVar dbSNP |
| 5 | g.140114766C>T | CA446831052 | PURA | c.585C>T (p.Leu195=) | ClinVar |
| 5 | g.140114767del | CA2695205333 | PURA | c.586del (p.Ile196SerfsTer29) | |
| 5 | g.140114767A>C | CA361491086 | PURA | c.586A>C (p.Ile196Leu) | |
| 5 | g.140114767A>G | CA361491087 | PURA | c.586A>G (p.Ile196Val) | |
| 5 | g.140114767A>T | CA361491088 | PURA | c.586A>T (p.Ile196Phe) | |
| 5 | g.140114768T>A | CA361491089 | PURA | c.587T>A (p.Ile196Asn) | |
| 5 | g.140114768T>C | CA361491090 | PURA | c.587T>C (p.Ile196Thr) | |
| 5 | g.140114768T>G | CA361491091 | PURA | c.587T>G (p.Ile196Ser) | |
| 5 | g.140114769C>A | CA446831056 | PURA | c.588C>A (p.Ile196=) | |
| 5 | g.140114769C= | CA1586595252 | PURA | c.588C= (p.Ile196=) | |
| 5 | g.140114769C>G | CA361491092 | PURA | c.588C>G (p.Ile196Met) | |
| 5 | g.140114769C>T | CA446831057 | PURA | c.588C>T (p.Ile196=) | ClinVar dbSNP |
| 5 | g.140114770G>A | CA361491093 | PURA | c.589G>A (p.Glu197Lys) | |
| 5 | g.140114770G>C | CA361491094 | PURA | c.589G>C (p.Glu197Gln) | |
| 5 | g.140114770G>T | CA361491095 | PURA | c.589G>T (p.Glu197Ter) | |
| 5 | g.140114771A>C | CA361491098 | PURA | c.590A>C (p.Glu197Ala) | |
| 5 | g.140114771A>G | CA361491097 | PURA | c.590A>G (p.Glu197Gly) | |
| 5 | g.140114771A>T | CA361491096 | PURA | c.590A>T (p.Glu197Val) | |
| 5 | g.140114772G>A | CA446831058 | PURA | c.591G>A (p.Glu197=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114772G>C | CA361491099 | PURA | c.591G>C (p.Glu197Asp) | |
| 5 | g.140114772G= | CA1586595259 | PURA | c.591G= (p.Glu197=) | |
| 5 | g.140114772G>T | CA361491100 | PURA | c.591G>T (p.Glu197Asp) | |
| 5 | g.140114773T>A | CA361491101 | PURA | c.592T>A (p.Phe198Ile) | |
| 5 | g.140114773T>C | CA361491102 | PURA | c.592T>C (p.Phe198Leu) | |
| 5 | g.140114773T>G | CA361491103 | PURA | c.592T>G (p.Phe198Val) | |
| 5 | g.140114774dup | CA2695205334 | PURA | c.593dup (p.Arg199ProfsTer2) | |
| 5 | g.140114774T>A | CA361491104 | PURA | c.593T>A (p.Phe198Tyr) | |
| 5 | g.140114774T>C | CA361491105 | PURA | c.593T>C (p.Phe198Ser) | |
| 5 | g.140114774T>G | CA361491106 | PURA | c.593T>G (p.Phe198Cys) | |
| 5 | g.140114775C>A | CA361491107 | PURA | c.594C>A (p.Phe198Leu) | |
| 5 | g.140114775C>G | CA361491108 | PURA | c.594C>G (p.Phe198Leu) | |
| 5 | g.140114775C>T | CA446831063 | PURA | c.594C>T (p.Phe198=) | |
| 5 | g.140114776C>A | CA361491109 | PURA | c.595C>A (p.Arg199Ser) | |
| 5 | g.140114776C= | CA1586595265 | PURA | c.595C= (p.Arg199=) | |
| 5 | g.140114776C>G | CA361491111 | PURA | c.595C>G (p.Arg199Gly) | |
| 5 | g.140114776C>T | CA361491110 | PURA | c.595C>T (p.Arg199Cys) | ClinVar dbSNP |
| 5 | g.140114777G>A | CA361491112 | PURA | c.596G>A (p.Arg199His) | |
| 5 | g.140114777G>C | CA249904 | PURA | c.596G>C (p.Arg199Pro) | ClinVar dbSNP |
| 5 | g.140114777G= | CA1586595272 | PURA | c.596G= (p.Arg199=) | |
| 5 | g.140114777G>T | CA361491113 | PURA | c.596G>T (p.Arg199Leu) | |
| 5 | g.140114778T>A | CA446831067 | PURA | c.597T>A (p.Arg199=) | |
| 5 | g.140114778T>C | CA128789415 | PURA | c.597T>C (p.Arg199=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114778T>G | CA446831068 | PURA | c.597T>G (p.Arg199=) | |
| 5 | g.140114778T= | CA1586595284 | PURA | c.597T= (p.Arg199=) | |
| 5 | g.140114779G>A | CA361491114 | PURA | c.598G>A (p.Asp200Asn) | |
| 5 | g.140114779G>C | CA361491116 | PURA | c.598G>C (p.Asp200His) | |
| 5 | g.140114779G>T | CA361491115 | PURA | c.598G>T (p.Asp200Tyr) | |
| 5 | g.140114780A>C | CA361491117 | PURA | c.599A>C (p.Asp200Ala) | |
| 5 | g.140114780A>G | CA361491118 | PURA | c.599A>G (p.Asp200Gly) | |
| 5 | g.140114780A>T | CA361491119 | PURA | c.599A>T (p.Asp200Val) | |
| 5 | g.140114781C>A | CA361491120 | PURA | c.600C>A (p.Asp200Glu) | |
| 5 | g.140114781C= | CA1586595296 | PURA | c.600C= (p.Asp200=) | |
| 5 | g.140114781C>G | CA361491121 | PURA | c.600C>G (p.Asp200Glu) | gnomAD v4 |
| 5 | g.140114781C>T | CA3437484 | PURA | c.600C>T (p.Asp200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.140114782G>A | CA361491122 | PURA | c.601G>A (p.Ala201Thr) | |
| 5 | g.140114782G>C | CA361491123 | PURA | c.601G>C (p.Ala201Pro) | |
| 5 | g.140114782G>T | CA361491124 | PURA | c.601G>T (p.Ala201Ser) | |
| 5 | g.140114783C>A | CA361491125 | PURA | c.602C>A (p.Ala201Asp) | gnomAD v4 |
| 5 | g.140114783C>G | CA361491126 | PURA | c.602C>G (p.Ala201Gly) | |
| 5 | g.140114783C>T | CA361491127 | PURA | c.602C>T (p.Ala201Val) | |
| 5 | g.140114784T>A | CA446831080 | PURA | c.603T>A (p.Ala201=) | |
| 5 | g.140114784T>C | CA446831079 | PURA | c.603T>C (p.Ala201=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114784T>G | CA446831078 | PURA | c.603T>G (p.Ala201=) | ClinVar dbSNP |
| 5 | g.140114784T= | CA1586595302 | PURA | c.603T= (p.Ala201=) | |
| 5 | g.140114785C>A | CA361491128 | PURA | c.604C>A (p.Leu202Met) | |
| 5 | g.140114785C= | CA1586595307 | PURA | c.604C= (p.Leu202=) | |
| 5 | g.140114785C>G | CA361491129 | PURA | c.604C>G (p.Leu202Val) | |
| 5 | g.140114785C>T | CA3437485 | PURA | c.604C>T (p.Leu202=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114786T>A | CA361491130 | PURA | c.605T>A (p.Leu202Gln) | |
| 5 | g.140114786T>C | CA361491131 | PURA | c.605T>C (p.Leu202Pro) | ClinVar dbSNP |
| 5 | g.140114786T>G | CA361491132 | PURA | c.605T>G (p.Leu202Arg) | |
| 5 | g.140114786T= | CA1586595318 | PURA | c.605T= (p.Leu202=) | |
| 5 | g.140114787G>A | CA446831081 | PURA | c.606G>A (p.Leu202=) | gnomAD v4 |
| 5 | g.140114787G>C | CA446831082 | PURA | c.606G>C (p.Leu202=) | |
| 5 | g.140114787G>T | CA446831083 | PURA | c.606G>T (p.Leu202=) | |
| 5 | g.140114788G>A | CA361491133 | PURA | c.607G>A (p.Ala203Thr) | |
| 5 | g.140114788G>C | CA361491134 | PURA | c.607G>C (p.Ala203Pro) | |
| 5 | g.140114788G>T | CA361491135 | PURA | c.607G>T (p.Ala203Ser) | |
| 5 | g.140114789C>A | CA361491136 | PURA | c.608C>A (p.Ala203Asp) | |
| 5 | g.140114789C>G | CA361491137 | PURA | c.608C>G (p.Ala203Gly) | |
| 5 | g.140114789C>T | CA361491138 | PURA | c.608C>T (p.Ala203Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114790C>A | CA446831085 | PURA | c.609C>A (p.Ala203=) | |
| 5 | g.140114790C>G | CA446831088 | PURA | c.609C>G (p.Ala203=) | gnomAD v4 |
| 5 | g.140114790C>T | CA446831086 | PURA | c.609C>T (p.Ala203=) | gnomAD v4 |
| 5 | g.140114791A>C | CA361491139 | PURA | c.610A>C (p.Lys204Gln) | |
| 5 | g.140114791A>G | CA361491140 | PURA | c.610A>G (p.Lys204Glu) | |
| 5 | g.140114791A>T | CA361491141 | PURA | c.610A>T (p.Lys204Ter) | |
| 5 | g.140114792A= | CA1586595322 | PURA | c.611A= (p.Lys204=) | |
| 5 | g.140114792A>C | CA361491144 | PURA | c.611A>C (p.Lys204Thr) | dbSNP |
| 5 | g.140114792A>G | CA361491142 | PURA | c.611A>G (p.Lys204Arg) | |
| 5 | g.140114792A>T | CA361491143 | PURA | c.611A>T (p.Lys204Met) | dbSNP |
| 5 | g.140114793G>A | CA446831092 | PURA | c.612G>A (p.Lys204=) | |
| 5 | g.140114793G>C | CA361491145 | PURA | c.612G>C (p.Lys204Asn) | |
| 5 | g.140114793G>T | CA361491146 | PURA | c.612G>T (p.Lys204Asn) | |
| 5 | g.140114794C>A | CA361491147 | PURA | c.613C>A (p.Leu205Ile) | |
| 5 | g.140114794C>G | CA361491148 | PURA | c.613C>G (p.Leu205Val) | |
| 5 | g.140114794C>T | CA361491149 | PURA | c.613C>T (p.Leu205Phe) | |
| 5 | g.140114794_140114797delinsCTCA | CA1586595325 | PURA | c.613_616delinsCTCA (p.Leu205=) | |
| 5 | g.140114795T>A | CA361491150 | PURA | c.614T>A (p.Leu205His) | |
| 5 | g.140114795T>C | CA361491151 | PURA | c.614T>C (p.Leu205Pro) | ClinVar dbSNP |
| 5 | g.140114795T>G | CA361491152 | PURA | c.614T>G (p.Leu205Arg) | |
| 5 | g.140114795T= | CA1586595336 | PURA | c.614T= (p.Leu205=) | |
| 5 | g.140114797_140114799del | CA16618128 | PURA | c.616_618del (p.Ile206del) | ClinVar dbSNP |
| 5 | g.140114796C>A | CA446831096 | PURA | c.615C>A (p.Leu205=) | |
| 5 | g.140114796C= | CA1586595347 | PURA | c.615C= (p.Leu205=) | |
| 5 | g.140114796C>G | CA446831098 | PURA | c.615C>G (p.Leu205=) | |
| 5 | g.140114796C>T | CA446831099 | PURA | c.615C>T (p.Leu205=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114797A= | CA1586595352 | PURA | c.616A= (p.Ile206=) | |
| 5 | g.140114797A>C | CA361491153 | PURA | c.616A>C (p.Ile206Leu) | |
| 5 | g.140114797A>G | CA361491154 | PURA | c.616A>G (p.Ile206Val) | |
| 5 | g.140114797A>T | CA199216 | PURA | c.616A>T (p.Ile206Phe) | ClinVar dbSNP |
| 5 | g.140114798T>A | CA361491157 | PURA | c.617T>A (p.Ile206Asn) | |
| 5 | g.140114798T>C | CA361491156 | PURA | c.617T>C (p.Ile206Thr) | |
| 5 | g.140114798T>G | CA361491155 | PURA | c.617T>G (p.Ile206Ser) | |
| 5 | g.140114799C>A | CA3437487 | PURA | c.618C>A (p.Ile206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114799C= | CA1586595363 | PURA | c.618C= (p.Ile206=) | |
| 5 | g.140114799C>G | CA361491158 | PURA | c.618C>G (p.Ile206Met) | dbSNP |
| 5 | g.140114799C>T | CA3437486 | PURA | c.618C>T (p.Ile206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114799_140114806delinsCGACGACT | CA1586595371 | PURA | c.618_625delinsCGACGACT (p.Ile206=) | |
| 5 | g.140114800G>A | CA361491159 | PURA | c.619G>A (p.Asp207Asn) | gnomAD v4 |
| 5 | g.140114800G>C | CA361491160 | PURA | c.619G>C (p.Asp207His) | |
| 5 | g.140114800G>T | CA361491161 | PURA | c.619G>T (p.Asp207Tyr) | |
| 5 | g.140114800_140114806del | CA891843401 | PURA | c.619_625del (p.Asp207ThrfsTer16) | ClinVar dbSNP |
| 5 | g.140114801A>C | CA361491162 | PURA | c.620A>C (p.Asp207Ala) | |
| 5 | g.140114801A>G | CA361491163 | PURA | c.620A>G (p.Asp207Gly) | |
| 5 | g.140114801A>T | CA361491164 | PURA | c.620A>T (p.Asp207Val) | |
| 5 | g.140114802C>A | CA361491165 | PURA | c.621C>A (p.Asp207Glu) | |
| 5 | g.140114802C= | CA1586595387 | PURA | c.621C= (p.Asp207=) | |
| 5 | g.140114802C>G | CA361491166 | PURA | c.621C>G (p.Asp207Glu) | |
| 5 | g.140114802C>T | CA3437488 | PURA | c.621C>T (p.Asp207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |