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 |
|---|---|---|---|---|---|
| 10 | g.100781325del | CA2573053222 | PAX2 | c.669del (p.Ile224PhefsTer?) c.576del (p.Ile193PhefsTer?) c.558del (p.Ile187PhefsTer?) c.573del (p.Ile192PhefsTer?) n.297del c.588del (p.Ile197PhefsTer?) n.291del | ClinVar dbSNP |
| 10 | g.100781323G>A | CA378258583 | PAX2 | c.667G>A (p.Gly223Arg) c.574G>A (p.Gly192Arg) c.556G>A (p.Gly186Arg) c.571G>A (p.Gly191Arg) n.295G>A c.586G>A (p.Gly196Arg) n.289G>A | COSMIC COSMIC |
| 10 | g.100781323G>C | CA378258582 | PAX2 | c.667G>C (p.Gly223Arg) c.574G>C (p.Gly192Arg) c.556G>C (p.Gly186Arg) c.571G>C (p.Gly191Arg) n.295G>C c.586G>C (p.Gly196Arg) n.289G>C | ClinVar dbSNP gnomAD v4 |
| 10 | g.100781323G= | CA1931936399 | PAX2 | c.667G= (p.Gly223=) c.574G= (p.Gly192=) c.556G= (p.Gly186=) c.571G= (p.Gly191=) n.295G= c.586G= (p.Gly196=) n.289G= | |
| 10 | g.100781323G>T | CA378258581 | PAX2 | c.667G>T (p.Gly223Trp) c.574G>T (p.Gly192Trp) c.556G>T (p.Gly186Trp) c.571G>T (p.Gly191Trp) n.295G>T c.586G>T (p.Gly196Trp) n.289G>T | |
| 10 | g.100781324G>A | CA378258586 | PAX2 | c.668G>A (p.Gly223Glu) c.575G>A (p.Gly192Glu) c.557G>A (p.Gly186Glu) c.572G>A (p.Gly191Glu) n.296G>A c.587G>A (p.Gly196Glu) n.290G>A | |
| 10 | g.100781324G>C | CA378258584 | PAX2 | c.668G>C (p.Gly223Ala) c.575G>C (p.Gly192Ala) c.557G>C (p.Gly186Ala) c.572G>C (p.Gly191Ala) n.296G>C c.587G>C (p.Gly196Ala) n.290G>C | |
| 10 | g.100781324G>T | CA378258585 | PAX2 | c.668G>T (p.Gly223Val) c.575G>T (p.Gly192Val) c.557G>T (p.Gly186Val) c.572G>T (p.Gly191Val) n.296G>T c.587G>T (p.Gly196Val) n.290G>T | |
| 10 | g.100781325G>A | CA471215930 | PAX2 | c.669G>A (p.Gly223=) c.576G>A (p.Gly192=) c.558G>A (p.Gly186=) c.573G>A (p.Gly191=) n.297G>A c.588G>A (p.Gly196=) n.291G>A | dbSNP gnomAD v4 |
| 10 | g.100781325G>C | CA471215929 | PAX2 | c.669G>C (p.Gly223=) c.576G>C (p.Gly192=) c.558G>C (p.Gly186=) c.573G>C (p.Gly191=) n.297G>C c.588G>C (p.Gly196=) n.291G>C | |
| 10 | g.100781325G= | CA1931936404 | PAX2 | c.669G= (p.Gly223=) c.576G= (p.Gly192=) c.558G= (p.Gly186=) c.573G= (p.Gly191=) n.297G= c.588G= (p.Gly196=) n.291G= | |
| 10 | g.100781325G>T | CA471215928 | PAX2 | c.669G>T (p.Gly223=) c.576G>T (p.Gly192=) c.558G>T (p.Gly186=) c.573G>T (p.Gly191=) n.297G>T c.588G>T (p.Gly196=) n.291G>T | |
| 10 | g.100781326A>C | CA378258587 | PAX2 | c.670A>C (p.Ile224Leu) c.577A>C (p.Ile193Leu) c.559A>C (p.Ile187Leu) c.574A>C (p.Ile192Leu) n.298A>C c.589A>C (p.Ile197Leu) n.292A>C | |
| 10 | g.100781326A>G | CA378258588 | PAX2 | c.670A>G (p.Ile224Val) c.577A>G (p.Ile193Val) c.559A>G (p.Ile187Val) c.574A>G (p.Ile192Val) n.298A>G c.589A>G (p.Ile197Val) n.292A>G | |
| 10 | g.100781326A>T | CA378258589 | PAX2 | c.670A>T (p.Ile224Phe) c.577A>T (p.Ile193Phe) c.559A>T (p.Ile187Phe) c.574A>T (p.Ile192Phe) n.298A>T c.589A>T (p.Ile197Phe) n.292A>T | gnomAD v4 |
| 10 | g.100781327T>A | CA378258590 | PAX2 | c.671T>A (p.Ile224Asn) c.578T>A (p.Ile193Asn) c.560T>A (p.Ile187Asn) c.575T>A (p.Ile192Asn) n.299T>A c.590T>A (p.Ile197Asn) n.293T>A | |
| 10 | g.100781327T>C | CA378258591 | PAX2 | c.671T>C (p.Ile224Thr) c.578T>C (p.Ile193Thr) c.560T>C (p.Ile187Thr) c.575T>C (p.Ile192Thr) n.299T>C c.590T>C (p.Ile197Thr) n.293T>C | |
| 10 | g.100781327T>G | CA378258592 | PAX2 | c.671T>G (p.Ile224Ser) c.578T>G (p.Ile193Ser) c.560T>G (p.Ile187Ser) c.575T>G (p.Ile192Ser) n.299T>G c.590T>G (p.Ile197Ser) n.293T>G | |
| 10 | g.100781328T>A | CA471215932 | PAX2 | c.672T>A (p.Ile224=) c.579T>A (p.Ile193=) c.561T>A (p.Ile187=) c.576T>A (p.Ile192=) n.300T>A c.591T>A (p.Ile197=) n.294T>A | |
| 10 | g.100781328T>C | CA471215931 | PAX2 | c.672T>C (p.Ile224=) c.579T>C (p.Ile193=) c.561T>C (p.Ile187=) c.576T>C (p.Ile192=) n.300T>C c.591T>C (p.Ile197=) n.294T>C | |
| 10 | g.100781328T>G | CA378258593 | PAX2 | c.672T>G (p.Ile224Met) c.579T>G (p.Ile193Met) c.561T>G (p.Ile187Met) c.576T>G (p.Ile192Met) n.300T>G c.591T>G (p.Ile197Met) n.294T>G | |
| 10 | g.100781329C>A | CA378258594 | PAX2 | c.673C>A (p.Pro225Thr) c.580C>A (p.Pro194Thr) c.562C>A (p.Pro188Thr) c.577C>A (p.Pro193Thr) n.301C>A c.592C>A (p.Pro198Thr) n.295C>A | |
| 10 | g.100781329C>G | CA378258595 | PAX2 | c.673C>G (p.Pro225Ala) c.580C>G (p.Pro194Ala) c.562C>G (p.Pro188Ala) c.577C>G (p.Pro193Ala) n.301C>G c.592C>G (p.Pro198Ala) n.295C>G | |
| 10 | g.100781329C>T | CA378258596 | PAX2 | c.673C>T (p.Pro225Ser) c.580C>T (p.Pro194Ser) c.562C>T (p.Pro188Ser) c.577C>T (p.Pro193Ser) n.301C>T c.592C>T (p.Pro198Ser) n.295C>T | gnomAD v4 COSMIC COSMIC |
| 10 | g.100781330C>A | CA378258599 | PAX2 | c.674C>A (p.Pro225His) c.581C>A (p.Pro194His) c.563C>A (p.Pro188His) c.578C>A (p.Pro193His) n.302C>A c.593C>A (p.Pro198His) n.296C>A | |
| 10 | g.100781330C>G | CA378258598 | PAX2 | c.674C>G (p.Pro225Arg) c.581C>G (p.Pro194Arg) c.563C>G (p.Pro188Arg) c.578C>G (p.Pro193Arg) n.302C>G c.593C>G (p.Pro198Arg) n.296C>G | |
| 10 | g.100781330C>T | CA378258597 | PAX2 | c.674C>T (p.Pro225Leu) c.581C>T (p.Pro194Leu) c.563C>T (p.Pro188Leu) c.578C>T (p.Pro193Leu) n.302C>T c.593C>T (p.Pro198Leu) n.296C>T | |
| 10 | g.100781331T>A | CA471215933 | PAX2 | c.675T>A (p.Pro225=) c.582T>A (p.Pro194=) c.564T>A (p.Pro188=) c.579T>A (p.Pro193=) n.303T>A c.594T>A (p.Pro198=) n.297T>A | |
| 10 | g.100781331T>C | CA471215935 | PAX2 | c.675T>C (p.Pro225=) c.582T>C (p.Pro194=) c.564T>C (p.Pro188=) c.579T>C (p.Pro193=) n.303T>C c.594T>C (p.Pro198=) n.297T>C | |
| 10 | g.100781331T>G | CA471215934 | PAX2 | c.675T>G (p.Pro225=) c.582T>G (p.Pro194=) c.564T>G (p.Pro188=) c.579T>G (p.Pro193=) n.303T>G c.594T>G (p.Pro198=) n.297T>G | |
| 10 | g.100781332C>A | CA378258600 | PAX2 | c.676C>A (p.Arg226Ser) c.583C>A (p.Arg195Ser) c.565C>A (p.Arg189Ser) c.580C>A (p.Arg194Ser) n.304C>A c.595C>A (p.Arg199Ser) n.298C>A | |
| 10 | g.100781332C= | CA1931936412 | PAX2 | c.676C= (p.Arg226=) c.583C= (p.Arg195=) c.565C= (p.Arg189=) c.580C= (p.Arg194=) n.304C= c.595C= (p.Arg199=) n.298C= | |
| 10 | g.100781332C>G | CA378258601 | PAX2 | c.676C>G (p.Arg226Gly) c.583C>G (p.Arg195Gly) c.565C>G (p.Arg189Gly) c.580C>G (p.Arg194Gly) n.304C>G c.595C>G (p.Arg199Gly) n.298C>G | gnomAD v4 |
| 10 | g.100781332C>T | CA5650765 | PAX2 | c.676C>T (p.Arg226Cys) c.583C>T (p.Arg195Cys) c.565C>T (p.Arg189Cys) c.580C>T (p.Arg194Cys) n.304C>T c.595C>T (p.Arg199Cys) n.298C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.100781332_100781333insTCATCCAGTTCCCAGCACG | CA1931936418 | PAX2 | c.676_677insTCATCCAGTTCCCAGCACG (p.Arg226LeufsTer11) c.583_584insTCATCCAGTTCCCAGCACG (p.Arg195LeufsTer11) c.565_566insTCATCCAGTTCCCAGCACG (p.Arg189LeufsTer11) c.580_581insTCATCCAGTTCCCAGCACG (p.Arg194LeufsTer11) n.304_305insTCATCCAGTTCCCAGCACG c.595_596insTCATCCAGTTCCCAGCACG (p.Arg199LeufsTer10) n.298_299insTCATCCAGTTCCCAGCACG | dbSNP |
| 10 | g.100781333G>A | CA5650766 | PAX2 | c.677G>A (p.Arg226His) c.584G>A (p.Arg195His) c.566G>A (p.Arg189His) c.581G>A (p.Arg194His) n.305G>A c.596G>A (p.Arg199His) n.299G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.100781333G>C | CA378258602 | PAX2 | c.677G>C (p.Arg226Pro) c.584G>C (p.Arg195Pro) c.566G>C (p.Arg189Pro) c.581G>C (p.Arg194Pro) n.305G>C c.596G>C (p.Arg199Pro) n.299G>C | |
| 10 | g.100781333G= | CA1931936419 | PAX2 | c.677G= (p.Arg226=) c.584G= (p.Arg195=) c.566G= (p.Arg189=) c.581G= (p.Arg194=) n.305G= c.596G= (p.Arg199=) n.299G= | |
| 10 | g.100781333G>T | CA378258603 | PAX2 | c.677G>T (p.Arg226Leu) c.584G>T (p.Arg195Leu) c.566G>T (p.Arg189Leu) c.581G>T (p.Arg194Leu) n.305G>T c.596G>T (p.Arg199Leu) n.299G>T | gnomAD v4 |
| 10 | g.100781334C>A | CA5650767 | PAX2 | c.678C>A (p.Arg226=) c.585C>A (p.Arg195=) c.567C>A (p.Arg189=) c.582C>A (p.Arg194=) n.306C>A c.597C>A (p.Arg199=) n.300C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.100781334C= | CA1931936422 | PAX2 | c.678C= (p.Arg226=) c.585C= (p.Arg195=) c.567C= (p.Arg189=) c.582C= (p.Arg194=) n.306C= c.597C= (p.Arg199=) n.300C= | |
| 10 | g.100781334C>G | CA471215936 | PAX2 | c.678C>G (p.Arg226=) c.585C>G (p.Arg195=) c.567C>G (p.Arg189=) c.582C>G (p.Arg194=) n.306C>G c.597C>G (p.Arg199=) n.300C>G | |
| 10 | g.100781334C>T | CA471215937 | PAX2 | c.678C>T (p.Arg226=) c.585C>T (p.Arg195=) c.567C>T (p.Arg189=) c.582C>T (p.Arg194=) n.306C>T c.597C>T (p.Arg199=) n.300C>T | |
| 10 | g.100781335T>A | CA378258604 | PAX2 | c.679T>A (p.Ser227Thr) c.586T>A (p.Ser196Thr) c.568T>A (p.Ser190Thr) c.583T>A (p.Ser195Thr) n.307T>A c.598T>A (p.Ser200Thr) n.301T>A | |
| 10 | g.100781335T>C | CA378258605 | PAX2 | c.679T>C (p.Ser227Pro) c.586T>C (p.Ser196Pro) c.568T>C (p.Ser190Pro) c.583T>C (p.Ser195Pro) n.307T>C c.598T>C (p.Ser200Pro) n.301T>C | |
| 10 | g.100781335T>G | CA378258606 | PAX2 | c.679T>G (p.Ser227Ala) c.586T>G (p.Ser196Ala) c.568T>G (p.Ser190Ala) c.583T>G (p.Ser195Ala) n.307T>G c.598T>G (p.Ser200Ala) n.301T>G | |
| 10 | g.100781336C>A | CA378258607 | PAX2 | c.680C>A (p.Ser227Tyr) c.587C>A (p.Ser196Tyr) c.569C>A (p.Ser190Tyr) c.584C>A (p.Ser195Tyr) n.308C>A c.599C>A (p.Ser200Tyr) n.302C>A | |
| 10 | g.100781336C= | CA1931936426 | PAX2 | c.680C= (p.Ser227=) c.587C= (p.Ser196=) c.569C= (p.Ser190=) c.584C= (p.Ser195=) n.308C= c.599C= (p.Ser200=) n.302C= | |
| 10 | g.100781336C>G | CA378258608 | PAX2 | c.680C>G (p.Ser227Cys) c.587C>G (p.Ser196Cys) c.569C>G (p.Ser190Cys) c.584C>G (p.Ser195Cys) n.308C>G c.599C>G (p.Ser200Cys) n.302C>G | |
| 10 | g.100781336C>T | CA378258609 | PAX2 | c.680C>T (p.Ser227Phe) c.587C>T (p.Ser196Phe) c.569C>T (p.Ser190Phe) c.584C>T (p.Ser195Phe) n.308C>T c.599C>T (p.Ser200Phe) n.302C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |