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.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) | |
| 13 | g.108208649C>T | CA388610588 | LIG4 | c.2419G>A (p.Asp807Asn) c.2620G>A (p.Asp874Asn) c.2656G>A (p.Asp886Asn) c.2632G>A (p.Asp878Asn) | |
| 13 | g.108208650T>A | CA484781529 | LIG4 | c.2418A>T (p.Ala806=) c.2619A>T (p.Ala873=) c.2655A>T (p.Ala885=) c.2631A>T (p.Ala877=) | |
| 13 | g.108208650T>C | CA484781530 | LIG4 | c.2418A>G (p.Ala806=) c.2619A>G (p.Ala873=) c.2655A>G (p.Ala885=) c.2631A>G (p.Ala877=) | |
| 13 | g.108208650T>G | CA484781531 | LIG4 | c.2418A>C (p.Ala806=) c.2619A>C (p.Ala873=) c.2655A>C (p.Ala885=) c.2631A>C (p.Ala877=) | |
| 13 | g.108208651G>A | CA388610592 | LIG4 | c.2417C>T (p.Ala806Val) c.2618C>T (p.Ala873Val) c.2654C>T (p.Ala885Val) c.2630C>T (p.Ala877Val) | |
| 13 | g.108208651G>C | CA388610594 | LIG4 | c.2417C>G (p.Ala806Gly) c.2618C>G (p.Ala873Gly) c.2654C>G (p.Ala885Gly) c.2630C>G (p.Ala877Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108208651G= | CA2117793852 | LIG4 | c.2417C= (p.Ala806=) c.2618C= (p.Ala873=) c.2654C= (p.Ala885=) c.2630C= (p.Ala877=) | |
| 13 | g.108208651G>T | CA388610595 | LIG4 | c.2417C>A (p.Ala806Glu) c.2618C>A (p.Ala873Glu) c.2654C>A (p.Ala885Glu) c.2630C>A (p.Ala877Glu) | |
| 13 | g.108208652C>A | CA388610597 | LIG4 | c.2416G>T (p.Ala806Ser) c.2617G>T (p.Ala873Ser) c.2653G>T (p.Ala885Ser) c.2629G>T (p.Ala877Ser) | gnomAD v4 |
| 13 | g.108208652C>G | CA388610599 | LIG4 | c.2416G>C (p.Ala806Pro) c.2617G>C (p.Ala873Pro) c.2653G>C (p.Ala885Pro) c.2629G>C (p.Ala877Pro) | |
| 13 | g.108208652C>T | CA388610600 | LIG4 | c.2416G>A (p.Ala806Thr) c.2617G>A (p.Ala873Thr) c.2653G>A (p.Ala885Thr) c.2629G>A (p.Ala877Thr) | |
| 13 | g.108208653A>C | CA484781532 | LIG4 | c.2415T>G (p.Val805=) c.2616T>G (p.Val872=) c.2652T>G (p.Val884=) c.2628T>G (p.Val876=) | gnomAD v4 |
| 13 | g.108208653A>G | CA484781533 | LIG4 | c.2415T>C (p.Val805=) c.2616T>C (p.Val872=) c.2652T>C (p.Val884=) c.2628T>C (p.Val876=) | gnomAD v4 |
| 13 | g.108208653A>T | CA484781534 | LIG4 | c.2415T>A (p.Val805=) c.2616T>A (p.Val872=) c.2652T>A (p.Val884=) c.2628T>A (p.Val876=) | |
| 13 | g.108208654A>C | CA388610604 | LIG4 | c.2414T>G (p.Val805Gly) c.2615T>G (p.Val872Gly) c.2651T>G (p.Val884Gly) c.2627T>G (p.Val876Gly) | |
| 13 | g.108208654A>G | CA388610602 | LIG4 | c.2414T>C (p.Val805Ala) c.2615T>C (p.Val872Ala) c.2651T>C (p.Val884Ala) c.2627T>C (p.Val876Ala) | |
| 13 | g.108208654A>T | CA388610603 | LIG4 | c.2414T>A (p.Val805Asp) c.2615T>A (p.Val872Asp) c.2651T>A (p.Val884Asp) c.2627T>A (p.Val876Asp) | |
| 13 | g.108208655C>A | CA388610605 | LIG4 | c.2413G>T (p.Val805Phe) c.2614G>T (p.Val872Phe) c.2650G>T (p.Val884Phe) c.2626G>T (p.Val876Phe) | |
| 13 | g.108208655C= | CA2117793853 | LIG4 | c.2413G= (p.Val805=) c.2614G= (p.Val872=) c.2650G= (p.Val884=) c.2626G= (p.Val876=) | |
| 13 | g.108208655C>G | CA388610607 | LIG4 | c.2413G>C (p.Val805Leu) c.2614G>C (p.Val872Leu) c.2650G>C (p.Val884Leu) c.2626G>C (p.Val876Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108208655C>T | CA388610609 | LIG4 | c.2413G>A (p.Val805Ile) c.2614G>A (p.Val872Ile) c.2650G>A (p.Val884Ile) c.2626G>A (p.Val876Ile) | |
| 13 | g.108208656A= | CA2117793854 | LIG4 | c.2412T= (p.Arg804=) c.2613T= (p.Arg871=) c.2649T= (p.Arg883=) c.2625T= (p.Arg875=) | |
| 13 | g.108208656A>C | CA484781535 | LIG4 | c.2412T>G (p.Arg804=) c.2613T>G (p.Arg871=) c.2649T>G (p.Arg883=) c.2625T>G (p.Arg875=) | gnomAD v4 |
| 13 | g.108208656A>G | CA7043460 | LIG4 | c.2412T>C (p.Arg804=) c.2613T>C (p.Arg871=) c.2649T>C (p.Arg883=) c.2625T>C (p.Arg875=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108208656A>T | CA484781536 | LIG4 | c.2412T>A (p.Arg804=) c.2613T>A (p.Arg871=) c.2649T>A (p.Arg883=) c.2625T>A (p.Arg875=) | |
| 13 | g.108208657C>A | CA388610611 | LIG4 | c.2411G>T (p.Arg804Leu) c.2612G>T (p.Arg871Leu) c.2648G>T (p.Arg883Leu) c.2624G>T (p.Arg875Leu) | |
| 13 | g.108208657C= | CA2117793855 | LIG4 | c.2411G= (p.Arg804=) c.2612G= (p.Arg871=) c.2648G= (p.Arg883=) c.2624G= (p.Arg875=) | |
| 13 | g.108208657C>G | CA388610612 | LIG4 | c.2411G>C (p.Arg804Pro) c.2612G>C (p.Arg871Pro) c.2648G>C (p.Arg883Pro) c.2624G>C (p.Arg875Pro) | |
| 13 | g.108208657C>T | CA7043461 | LIG4 | c.2411G>A (p.Arg804His) c.2612G>A (p.Arg871His) c.2648G>A (p.Arg883His) c.2624G>A (p.Arg875His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.108208658G>A | CA388610615 | LIG4 | c.2410C>T (p.Arg804Cys) c.2611C>T (p.Arg871Cys) c.2647C>T (p.Arg883Cys) c.2623C>T (p.Arg875Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |