WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.83353124G>A | CA3332303 | XRCC4 | c.894-7G>A (n.894-7G>A) c.894-1G>A (n.894-1G>A) c.234-1G>A (n.234-1G>A) c.894-17143G>A (n.894-17143G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.83353124G>C | CA360357579 | XRCC4 | c.894-7G>C (n.894-7G>C) c.894-1G>C (n.894-1G>C) c.234-1G>C (n.234-1G>C) c.894-17143G>C (n.894-17143G>C) | |
| 5 | g.83353124G= | CA1559694042 | XRCC4 | c.894-7G= (n.894-7G=) c.894-1G= (n.894-1G=) c.234-1G= (n.234-1G=) c.894-17143G= (n.894-17143G=) | |
| 5 | g.83353124G>T | CA360357580 | XRCC4 | c.894-7G>T (n.894-7G>T) c.894-1G>T (n.894-1G>T) c.234-1G>T (n.234-1G>T) c.894-17143G>T (n.894-17143G>T) | |
| 5 | g.83353124_83353125insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA | CA1078171548 | XRCC4 | c.894-7_894-6insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA (n.894-7_894-6insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA) c.894-1_894insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA (n.894-1_894insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA) c.234-1_234insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA (n.234-1_234insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA) c.894-17143_894-17142insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA (n.894-17143_894-17142insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA) | gnomAD v3 gnomAD v4 |
| 5 | g.83353125T>A | CA360357581 | XRCC4 | c.894-6T>A (n.894-6T>A) c.894T>A (p.Asn298Lys) c.234T>A (p.Asn78Lys) c.894-17142T>A (n.894-17142T>A) | gnomAD v4 |
| 5 | g.83353125T>C | CA445279245 | XRCC4 | c.894-6T>C (n.894-6T>C) c.894T>C (p.Asn298=) c.234T>C (p.Asn78=) c.894-17142T>C (n.894-17142T>C) | |
| 5 | g.83353125T>G | CA360357582 | XRCC4 | c.894-6T>G (n.894-6T>G) c.894T>G (p.Asn298Lys) c.234T>G (p.Asn78Lys) c.894-17142T>G (n.894-17142T>G) | |
| 5 | g.83353126T>A | CA360357583 | XRCC4 | c.894-5T>A (n.894-5T>A) c.895T>A (p.Ser299Thr) c.235T>A (p.Ser79Thr) c.894-17141T>A (n.894-17141T>A) | |
| 5 | g.83353126T>C | CA360357584 | XRCC4 | c.894-5T>C (n.894-5T>C) c.895T>C (p.Ser299Pro) c.235T>C (p.Ser79Pro) c.894-17141T>C (n.894-17141T>C) | |
| 5 | g.83353126T>G | CA360357585 | XRCC4 | c.894-5T>G (n.894-5T>G) c.895T>G (p.Ser299Ala) c.235T>G (p.Ser79Ala) c.894-17141T>G (n.894-17141T>G) | |
| 5 | g.83353127C>A | CA360357586 | XRCC4 | c.894-4C>A (n.894-4C>A) c.896C>A (p.Ser299Tyr) c.236C>A (p.Ser79Tyr) c.894-17140C>A (n.894-17140C>A) | gnomAD v4 |
| 5 | g.83353127C= | CA1559694047 | XRCC4 | c.894-4C= (n.894-4C=) c.896C= (p.Ser299=) c.236C= (p.Ser79=) c.894-17140C= (n.894-17140C=) | |
| 5 | g.83353127C>G | CA360357587 | XRCC4 | c.894-4C>G (n.894-4C>G) c.896C>G (p.Ser299Cys) c.236C>G (p.Ser79Cys) c.894-17140C>G (n.894-17140C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.83353127C>T | CA360357588 | XRCC4 | c.894-4C>T (n.894-4C>T) c.896C>T (p.Ser299Phe) c.236C>T (p.Ser79Phe) c.894-17140C>T (n.894-17140C>T) | |
| 5 | g.83353128T>A | CA445279246 | XRCC4 | c.894-3T>A (n.894-3T>A) c.897T>A (p.Ser299=) c.237T>A (p.Ser79=) c.894-17139T>A (n.894-17139T>A) | |
| 5 | g.83353128T>C | CA445279247 | XRCC4 | c.894-3T>C (n.894-3T>C) c.897T>C (p.Ser299=) c.237T>C (p.Ser79=) c.894-17139T>C (n.894-17139T>C) | |
| 5 | g.83353128T>G | CA445279248 | XRCC4 | c.894-3T>G (n.894-3T>G) c.897T>G (p.Ser299=) c.237T>G (p.Ser79=) c.894-17139T>G (n.894-17139T>G) | |
| 5 | g.83353129A>C | CA360357591 | XRCC4 | c.894-2A>C (n.894-2A>C) c.898A>C (p.Arg300=) c.238A>C (p.Arg80=) c.894-17138A>C (n.894-17138A>C) | |
| 5 | g.83353129A>G | CA360357589 | XRCC4 | c.894-2A>G (n.894-2A>G) c.898A>G (p.Arg300Gly) c.238A>G (p.Arg80Gly) c.894-17138A>G (n.894-17138A>G) | gnomAD v4 |
| 5 | g.83353129A>T | CA360357590 | XRCC4 | c.894-2A>T (n.894-2A>T) c.898A>T (p.Arg300Trp) c.238A>T (p.Arg80Trp) c.894-17138A>T (n.894-17138A>T) | |
| 5 | g.83353130G>A | CA360357592 | XRCC4 | c.894-1G>A (n.894-1G>A) c.899G>A (p.Arg300Lys) c.239G>A (p.Arg80Lys) c.894-17137G>A (n.894-17137G>A) | |
| 5 | g.83353130G>C | CA360357593 | XRCC4 | c.894-1G>C (n.894-1G>C) c.899G>C (p.Arg300Thr) c.239G>C (p.Arg80Thr) c.894-17137G>C (n.894-17137G>C) | |
| 5 | g.83353130G>T | CA360357594 | XRCC4 | c.894-1G>T (n.894-1G>T) c.899G>T (p.Arg300Met) c.239G>T (p.Arg80Met) c.894-17137G>T (n.894-17137G>T) | |
| 5 | g.83353131G>A | CA3332304 | XRCC4 | c.894G>A (p.Lys298=) c.900G>A (p.Arg300=) c.240G>A (p.Arg80=) c.894-17136G>A (n.894-17136G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.83353131G>C | CA360357595 | XRCC4 | c.894G>C (p.Lys298Asn) c.900G>C (p.Arg300Ser) c.240G>C (p.Arg80Ser) c.894-17136G>C (n.894-17136G>C) | |
| 5 | g.83353131G= | CA1559694051 | XRCC4 | c.894G= (p.Lys298=) c.900G= (p.Arg300=) c.240G= (p.Arg80=) c.894-17136G= (n.894-17136G=) | |
| 5 | g.83353131G>T | CA360357596 | XRCC4 | c.894G>T (p.Lys298Asn) c.900G>T (p.Arg300Ser) c.240G>T (p.Arg80Ser) c.894-17136G>T (n.894-17136G>T) | gnomAD v4 |
| 5 | g.83353132C>A | CA360357597 | XRCC4 | c.895C>A (p.Pro299Thr) c.901C>A (p.Pro301Thr) c.241C>A (p.Pro81Thr) c.894-17135C>A (n.894-17135C>A) | |
| 5 | g.83353132C>G | CA360357598 | XRCC4 | c.895C>G (p.Pro299Ala) c.901C>G (p.Pro301Ala) c.241C>G (p.Pro81Ala) c.894-17135C>G (n.894-17135C>G) | |
| 5 | g.83353132C>T | CA360357599 | XRCC4 | c.895C>T (p.Pro299Ser) c.901C>T (p.Pro301Ser) c.241C>T (p.Pro81Ser) c.894-17135C>T (n.894-17135C>T) | gnomAD v4 |
| 5 | g.83353133C>A | CA360357600 | XRCC4 | c.896C>A (p.Pro299His) c.902C>A (p.Pro301His) c.242C>A (p.Pro81His) c.894-17134C>A (n.894-17134C>A) | gnomAD v4 |
| 5 | g.83353133C= | CA1559694054 | XRCC4 | c.896C= (p.Pro299=) c.902C= (p.Pro301=) c.242C= (p.Pro81=) c.894-17134C= (n.894-17134C=) | |
| 5 | g.83353133C>G | CA360357601 | XRCC4 | c.896C>G (p.Pro299Arg) c.902C>G (p.Pro301Arg) c.242C>G (p.Pro81Arg) c.894-17134C>G (n.894-17134C>G) | dbSNP |
| 5 | g.83353133C>T | CA360357602 | XRCC4 | c.896C>T (p.Pro299Leu) c.902C>T (p.Pro301Leu) c.242C>T (p.Pro81Leu) c.894-17134C>T (n.894-17134C>T) | |
| 5 | g.83353134T>A | CA445279249 | XRCC4 | c.897T>A (p.Pro299=) c.903T>A (p.Pro301=) c.243T>A (p.Pro81=) c.894-17133T>A (n.894-17133T>A) | |
| 5 | g.83353134T>C | CA445279250 | XRCC4 | c.897T>C (p.Pro299=) c.903T>C (p.Pro301=) c.243T>C (p.Pro81=) c.894-17133T>C (n.894-17133T>C) | dbSNP gnomAD v4 |
| 5 | g.83353134T>G | CA445279251 | XRCC4 | c.897T>G (p.Pro299=) c.903T>G (p.Pro301=) c.243T>G (p.Pro81=) c.894-17133T>G (n.894-17133T>G) | |
| 5 | g.83353134T= | CA1559694056 | XRCC4 | c.897T= (p.Pro299=) c.903T= (p.Pro301=) c.243T= (p.Pro81=) c.894-17133T= (n.894-17133T=) | |
| 5 | g.83353135G>A | CA360357603 | XRCC4 | c.898G>A (p.Asp300Asn) c.904G>A (p.Asp302Asn) c.244G>A (p.Asp82Asn) c.894-17132G>A (n.894-17132G>A) | gnomAD v4 |
| 5 | g.83353135G>C | CA360357605 | XRCC4 | c.898G>C (p.Asp300His) c.904G>C (p.Asp302His) c.244G>C (p.Asp82His) c.894-17132G>C (n.894-17132G>C) | |
| 5 | g.83353135G>T | CA360357604 | XRCC4 | c.898G>T (p.Asp300Tyr) c.904G>T (p.Asp302Tyr) c.244G>T (p.Asp82Tyr) c.894-17132G>T (n.894-17132G>T) | gnomAD v4 |
| 5 | g.83353136A>C | CA360357606 | XRCC4 | c.899A>C (p.Asp300Ala) c.905A>C (p.Asp302Ala) c.245A>C (p.Asp82Ala) c.894-17131A>C (n.894-17131A>C) | |
| 5 | g.83353136A>G | CA360357607 | XRCC4 | c.899A>G (p.Asp300Gly) c.905A>G (p.Asp302Gly) c.245A>G (p.Asp82Gly) c.894-17131A>G (n.894-17131A>G) | |
| 5 | g.83353136A>T | CA360357608 | XRCC4 | c.899A>T (p.Asp300Val) c.905A>T (p.Asp302Val) c.245A>T (p.Asp82Val) c.894-17131A>T (n.894-17131A>T) | |
| 5 | g.83353137T>A | CA360357609 | XRCC4 | c.900T>A (p.Asp300Glu) c.906T>A (p.Asp302Glu) c.246T>A (p.Asp82Glu) c.894-17130T>A (n.894-17130T>A) | |
| 5 | g.83353137T>C | CA445279252 | XRCC4 | c.900T>C (p.Asp300=) c.906T>C (p.Asp302=) c.246T>C (p.Asp82=) c.894-17130T>C (n.894-17130T>C) | |
| 5 | g.83353137T>G | CA360357610 | XRCC4 | c.900T>G (p.Asp300Glu) c.906T>G (p.Asp302Glu) c.246T>G (p.Asp82Glu) c.894-17130T>G (n.894-17130T>G) | |
| 5 | g.83353138T>A | CA360357611 | XRCC4 | c.901T>A (p.Ser301Thr) c.907T>A (p.Ser303Thr) c.247T>A (p.Ser83Thr) c.894-17129T>A (n.894-17129T>A) | gnomAD v4 |
| 5 | g.83353138T>C | CA122029003 | XRCC4 | c.901T>C (p.Ser301Pro) c.907T>C (p.Ser303Pro) c.247T>C (p.Ser83Pro) c.894-17129T>C (n.894-17129T>C) | dbSNP gnomAD v3 gnomAD v4 |