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.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 |
| 13 | g.108208658G>C | CA388610617 | LIG4 | c.2410C>G (p.Arg804Gly) c.2611C>G (p.Arg871Gly) c.2647C>G (p.Arg883Gly) c.2623C>G (p.Arg875Gly) | |
| 13 | g.108208658G= | CA2117793856 | LIG4 | c.2410C= (p.Arg804=) c.2611C= (p.Arg871=) c.2647C= (p.Arg883=) c.2623C= (p.Arg875=) | |
| 13 | g.108208658G>T | CA388610618 | LIG4 | c.2410C>A (p.Arg804Ser) c.2611C>A (p.Arg871Ser) c.2647C>A (p.Arg883Ser) c.2623C>A (p.Arg875Ser) | |
| 13 | g.108208659A= | CA2117793857 | LIG4 | c.2409T= (p.Ser803=) c.2610T= (p.Ser870=) c.2646T= (p.Ser882=) c.2622T= (p.Ser874=) | |
| 13 | g.108208659A>C | CA388610619 | LIG4 | c.2409T>G (p.Ser803Arg) c.2610T>G (p.Ser870Arg) c.2646T>G (p.Ser882Arg) c.2622T>G (p.Ser874Arg) | |
| 13 | g.108208659A>G | CA7043462 | LIG4 | c.2409T>C (p.Ser803=) c.2610T>C (p.Ser870=) c.2646T>C (p.Ser882=) c.2622T>C (p.Ser874=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108208659A>T | CA388610620 | LIG4 | c.2409T>A (p.Ser803Arg) c.2610T>A (p.Ser870Arg) c.2646T>A (p.Ser882Arg) c.2622T>A (p.Ser874Arg) | |
| 13 | g.108208660C>A | CA388610622 | LIG4 | c.2408G>T (p.Ser803Ile) c.2609G>T (p.Ser870Ile) c.2645G>T (p.Ser882Ile) c.2621G>T (p.Ser874Ile) | |
| 13 | g.108208660C>G | CA388610625 | LIG4 | c.2408G>C (p.Ser803Thr) c.2609G>C (p.Ser870Thr) c.2645G>C (p.Ser882Thr) c.2621G>C (p.Ser874Thr) | |
| 13 | g.108208660C>T | CA388610624 | LIG4 | c.2408G>A (p.Ser803Asn) c.2609G>A (p.Ser870Asn) c.2645G>A (p.Ser882Asn) c.2621G>A (p.Ser874Asn) | ClinVar |
| 13 | g.108208661T>A | CA388610627 | LIG4 | c.2407A>T (p.Ser803Cys) c.2608A>T (p.Ser870Cys) c.2644A>T (p.Ser882Cys) c.2620A>T (p.Ser874Cys) | |
| 13 | g.108208661T>C | CA388610629 | LIG4 | c.2407A>G (p.Ser803Gly) c.2608A>G (p.Ser870Gly) c.2644A>G (p.Ser882Gly) c.2620A>G (p.Ser874Gly) | COSMIC |
| 13 | g.108208661T>G | CA388610630 | LIG4 | c.2407A>C (p.Ser803Arg) c.2608A>C (p.Ser870Arg) c.2644A>C (p.Ser882Arg) c.2620A>C (p.Ser874Arg) | |
| 13 | g.108208662A>C | CA388610632 | LIG4 | c.2406T>G (p.His802Gln) c.2607T>G (p.His869Gln) c.2643T>G (p.His881Gln) c.2619T>G (p.His873Gln) | |
| 13 | g.108208662A>G | CA484781537 | LIG4 | c.2406T>C (p.His802=) c.2607T>C (p.His869=) c.2643T>C (p.His881=) c.2619T>C (p.His873=) | gnomAD v4 |
| 13 | g.108208662A>T | CA388610635 | LIG4 | c.2406T>A (p.His802Gln) c.2607T>A (p.His869Gln) c.2643T>A (p.His881Gln) c.2619T>A (p.His873Gln) | |
| 13 | g.108208663T>A | CA388610636 | LIG4 | c.2405A>T (p.His802Leu) c.2606A>T (p.His869Leu) c.2642A>T (p.His881Leu) c.2618A>T (p.His873Leu) | dbSNP |
| 13 | g.108208663T>C | CA388610637 | LIG4 | c.2405A>G (p.His802Arg) c.2606A>G (p.His869Arg) c.2642A>G (p.His881Arg) c.2618A>G (p.His873Arg) | |
| 13 | g.108208663T>G | CA388610638 | LIG4 | c.2405A>C (p.His802Pro) c.2606A>C (p.His869Pro) c.2642A>C (p.His881Pro) c.2618A>C (p.His873Pro) | gnomAD v4 |
| 13 | g.108208663T= | CA2117793858 | LIG4 | c.2405A= (p.His802=) c.2606A= (p.His869=) c.2642A= (p.His881=) c.2618A= (p.His873=) | |
| 13 | g.108208664G>A | CA388610639 | LIG4 | c.2404C>T (p.His802Tyr) c.2605C>T (p.His869Tyr) c.2641C>T (p.His881Tyr) c.2617C>T (p.His873Tyr) | |
| 13 | g.108208664G>C | CA388610640 | LIG4 | c.2404C>G (p.His802Asp) c.2605C>G (p.His869Asp) c.2641C>G (p.His881Asp) c.2617C>G (p.His873Asp) | |
| 13 | g.108208664G>T | CA388610641 | LIG4 | c.2404C>A (p.His802Asn) c.2605C>A (p.His869Asn) c.2641C>A (p.His881Asn) c.2617C>A (p.His873Asn) | |
| 13 | g.108208665A>C | CA388610642 | LIG4 | c.2403T>G (p.Asp801Glu) c.2604T>G (p.Asp868Glu) c.2640T>G (p.Asp880Glu) c.2616T>G (p.Asp872Glu) |