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 |
|---|---|---|---|---|---|
| 13 | g.108208632_108208634del | CA7043454 | LIG4 | c.2438_2440del (p.Arg813del) c.2639_2641del (p.Arg880del) c.2675_2677del (p.Arg892del) c.2651_2653del (p.Arg884del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108208634T>A | CA388610533 | LIG4 | c.2434A>T (p.Arg812Ter) c.2635A>T (p.Arg879Ter) c.2671A>T (p.Arg891Ter) c.2647A>T (p.Arg883Ter) | gnomAD v4 |
| 13 | g.108208634T>C | CA388610536 | LIG4 | c.2434A>G (p.Arg812Gly) c.2635A>G (p.Arg879Gly) c.2671A>G (p.Arg891Gly) c.2647A>G (p.Arg883Gly) | |
| 13 | g.108208634T>G | CA484781521 | LIG4 | c.2434A>C (p.Arg812=) c.2635A>C (p.Arg879=) c.2671A>C (p.Arg891=) c.2647A>C (p.Arg883=) | |
| 13 | g.108208635A>C | CA388610538 | LIG4 | c.2433T>G (p.Phe811Leu) c.2634T>G (p.Phe878Leu) c.2670T>G (p.Phe890Leu) c.2646T>G (p.Phe882Leu) | |
| 13 | g.108208635A>G | CA484781522 | LIG4 | c.2433T>C (p.Phe811=) c.2634T>C (p.Phe878=) c.2670T>C (p.Phe890=) c.2646T>C (p.Phe882=) | |
| 13 | g.108208635A>T | CA388610539 | LIG4 | c.2433T>A (p.Phe811Leu) c.2634T>A (p.Phe878Leu) c.2670T>A (p.Phe890Leu) c.2646T>A (p.Phe882Leu) | COSMIC |
| 13 | g.108208636A= | CA2117793850 | LIG4 | c.2432T= (p.Phe811=) c.2633T= (p.Phe878=) c.2669T= (p.Phe890=) c.2645T= (p.Phe882=) | |
| 13 | g.108208636A>C | CA7043458 | LIG4 | c.2432T>G (p.Phe811Cys) c.2633T>G (p.Phe878Cys) c.2669T>G (p.Phe890Cys) c.2645T>G (p.Phe882Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108208636A>G | CA388610541 | LIG4 | c.2432T>C (p.Phe811Ser) c.2633T>C (p.Phe878Ser) c.2669T>C (p.Phe890Ser) c.2645T>C (p.Phe882Ser) | |
| 13 | g.108208636A>T | CA388610542 | LIG4 | c.2432T>A (p.Phe811Tyr) c.2633T>A (p.Phe878Tyr) c.2669T>A (p.Phe890Tyr) c.2645T>A (p.Phe882Tyr) | |
| 13 | g.108208637A= | CA2117793851 | LIG4 | c.2431T= (p.Phe811=) c.2632T= (p.Phe878=) c.2668T= (p.Phe890=) c.2644T= (p.Phe882=) | |
| 13 | g.108208637A>C | CA256178964 | LIG4 | c.2431T>G (p.Phe811Val) c.2632T>G (p.Phe878Val) c.2668T>G (p.Phe890Val) c.2644T>G (p.Phe882Val) | dbSNP |
| 13 | g.108208637A>G | CA7043459 | LIG4 | c.2431T>C (p.Phe811Leu) c.2632T>C (p.Phe878Leu) c.2668T>C (p.Phe890Leu) c.2644T>C (p.Phe882Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108208637A>T | CA388610544 | LIG4 | c.2431T>A (p.Phe811Ile) c.2632T>A (p.Phe878Ile) c.2668T>A (p.Phe890Ile) c.2644T>A (p.Phe882Ile) | |
| 13 | g.108208638A>C | CA484781523 | LIG4 | c.2430T>G (p.Ala810=) c.2631T>G (p.Ala877=) c.2667T>G (p.Ala889=) c.2643T>G (p.Ala881=) | |
| 13 | g.108208638A>G | CA484781524 | LIG4 | c.2430T>C (p.Ala810=) c.2631T>C (p.Ala877=) c.2667T>C (p.Ala889=) c.2643T>C (p.Ala881=) | |
| 13 | g.108208638A>T | CA484781525 | LIG4 | c.2430T>A (p.Ala810=) c.2631T>A (p.Ala877=) c.2667T>A (p.Ala889=) c.2643T>A (p.Ala881=) | |
| 13 | g.108208639G>A | CA388610547 | LIG4 | c.2429C>T (p.Ala810Val) c.2630C>T (p.Ala877Val) c.2666C>T (p.Ala889Val) c.2642C>T (p.Ala881Val) | |
| 13 | g.108208639G>C | CA388610549 | LIG4 | c.2429C>G (p.Ala810Gly) c.2630C>G (p.Ala877Gly) c.2666C>G (p.Ala889Gly) c.2642C>G (p.Ala881Gly) | |
| 13 | g.108208639G>T | CA388610550 | LIG4 | c.2429C>A (p.Ala810Asp) c.2630C>A (p.Ala877Asp) c.2666C>A (p.Ala889Asp) c.2642C>A (p.Ala881Asp) | |
| 13 | g.108208640C>A | CA388610554 | LIG4 | c.2428G>T (p.Ala810Ser) c.2629G>T (p.Ala877Ser) c.2665G>T (p.Ala889Ser) c.2641G>T (p.Ala881Ser) | |
| 13 | g.108208640C>G | CA388610553 | LIG4 | c.2428G>C (p.Ala810Pro) c.2629G>C (p.Ala877Pro) c.2665G>C (p.Ala889Pro) c.2641G>C (p.Ala881Pro) | |
| 13 | g.108208640C>T | CA388610552 | LIG4 | c.2428G>A (p.Ala810Thr) c.2629G>A (p.Ala877Thr) c.2665G>A (p.Ala889Thr) c.2641G>A (p.Ala881Thr) | |
| 13 | g.108208641T>A | CA388610556 | LIG4 | c.2427A>T (p.Lys809Asn) c.2628A>T (p.Lys876Asn) c.2664A>T (p.Lys888Asn) c.2640A>T (p.Lys880Asn) | |
| 13 | g.108208641T>C | CA484781526 | LIG4 | c.2427A>G (p.Lys809=) c.2628A>G (p.Lys876=) c.2664A>G (p.Lys888=) c.2640A>G (p.Lys880=) | |
| 13 | g.108208641T>G | CA388610557 | LIG4 | c.2427A>C (p.Lys809Asn) c.2628A>C (p.Lys876Asn) c.2664A>C (p.Lys888Asn) c.2640A>C (p.Lys880Asn) | |
| 13 | g.108208642T>A | CA388610559 | LIG4 | c.2426A>T (p.Lys809Ile) c.2627A>T (p.Lys876Ile) c.2663A>T (p.Lys888Ile) c.2639A>T (p.Lys880Ile) | |
| 13 | g.108208642T>C | CA388610560 | LIG4 | c.2426A>G (p.Lys809Arg) c.2627A>G (p.Lys876Arg) c.2663A>G (p.Lys888Arg) c.2639A>G (p.Lys880Arg) | |
| 13 | g.108208642T>G | CA388610561 | LIG4 | c.2426A>C (p.Lys809Thr) c.2627A>C (p.Lys876Thr) c.2663A>C (p.Lys888Thr) c.2639A>C (p.Lys880Thr) | |
| 13 | g.108208643T>A | CA388610563 | LIG4 | c.2425A>T (p.Lys809Ter) c.2626A>T (p.Lys876Ter) c.2662A>T (p.Lys888Ter) c.2638A>T (p.Lys880Ter) | |
| 13 | g.108208643T>C | CA388610564 | LIG4 | c.2425A>G (p.Lys809Glu) c.2626A>G (p.Lys876Glu) c.2662A>G (p.Lys888Glu) c.2638A>G (p.Lys880Glu) | |
| 13 | g.108208643T>G | CA388610566 | LIG4 | c.2425A>C (p.Lys809Gln) c.2626A>C (p.Lys876Gln) c.2662A>C (p.Lys888Gln) c.2638A>C (p.Lys880Gln) | |
| 13 | g.108208644A>C | CA388610568 | LIG4 | c.2424T>G (p.Phe808Leu) c.2625T>G (p.Phe875Leu) c.2661T>G (p.Phe887Leu) c.2637T>G (p.Phe879Leu) | |
| 13 | g.108208644A>G | CA484781527 | LIG4 | c.2424T>C (p.Phe808=) c.2625T>C (p.Phe875=) c.2661T>C (p.Phe887=) c.2637T>C (p.Phe879=) | |
| 13 | g.108208644A>T | CA388610569 | LIG4 | c.2424T>A (p.Phe808Leu) c.2625T>A (p.Phe875Leu) c.2661T>A (p.Phe887Leu) c.2637T>A (p.Phe879Leu) | |
| 13 | g.108208645A>C | CA388610570 | LIG4 | c.2423T>G (p.Phe808Cys) c.2624T>G (p.Phe875Cys) c.2660T>G (p.Phe887Cys) c.2636T>G (p.Phe879Cys) | |
| 13 | g.108208645A>G | CA388610572 | LIG4 | c.2423T>C (p.Phe808Ser) c.2624T>C (p.Phe875Ser) c.2660T>C (p.Phe887Ser) c.2636T>C (p.Phe879Ser) | COSMIC |
| 13 | g.108208645A>T | CA388610574 | LIG4 | c.2423T>A (p.Phe808Tyr) c.2624T>A (p.Phe875Tyr) c.2660T>A (p.Phe887Tyr) c.2636T>A (p.Phe879Tyr) | |
| 13 | g.108208646A>C | CA388610577 | LIG4 | c.2422T>G (p.Phe808Val) c.2623T>G (p.Phe875Val) c.2659T>G (p.Phe887Val) c.2635T>G (p.Phe879Val) | |
| 13 | g.108208646A>G | CA388610578 | LIG4 | c.2422T>C (p.Phe808Leu) c.2623T>C (p.Phe875Leu) c.2659T>C (p.Phe887Leu) c.2635T>C (p.Phe879Leu) | |
| 13 | g.108208646A>T | CA388610576 | LIG4 | c.2422T>A (p.Phe808Ile) c.2623T>A (p.Phe875Ile) c.2659T>A (p.Phe887Ile) c.2635T>A (p.Phe879Ile) | |
| 13 | g.108208647A>C | CA388610580 | LIG4 | c.2421T>G (p.Asp807Glu) c.2622T>G (p.Asp874Glu) c.2658T>G (p.Asp886Glu) c.2634T>G (p.Asp878Glu) | |
| 13 | g.108208647A>G | CA484781528 | LIG4 | c.2421T>C (p.Asp807=) c.2622T>C (p.Asp874=) c.2658T>C (p.Asp886=) c.2634T>C (p.Asp878=) | |
| 13 | g.108208647A>T | CA388610582 | LIG4 | c.2421T>A (p.Asp807Glu) c.2622T>A (p.Asp874Glu) c.2658T>A (p.Asp886Glu) c.2634T>A (p.Asp878Glu) | |
| 13 | g.108208648T>A | CA388610584 | LIG4 | c.2420A>T (p.Asp807Val) c.2621A>T (p.Asp874Val) c.2657A>T (p.Asp886Val) c.2633A>T (p.Asp878Val) | |
| 13 | g.108208648T>C | CA388610586 | LIG4 | c.2420A>G (p.Asp807Gly) c.2621A>G (p.Asp874Gly) c.2657A>G (p.Asp886Gly) c.2633A>G (p.Asp878Gly) | |
| 13 | g.108208648T>G | CA388610587 | LIG4 | c.2420A>C (p.Asp807Ala) c.2621A>C (p.Asp874Ala) c.2657A>C (p.Asp886Ala) c.2633A>C (p.Asp878Ala) | |
| 13 | g.108208649C>A | CA388610590 | LIG4 | c.2419G>T (p.Asp807Tyr) c.2620G>T (p.Asp874Tyr) c.2656G>T (p.Asp886Tyr) c.2632G>T (p.Asp878Tyr) | |
| 13 | g.108208649C>G | CA388610589 | LIG4 | c.2419G>C (p.Asp807His) c.2620G>C (p.Asp874His) c.2656G>C (p.Asp886His) c.2632G>C (p.Asp878His) |