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.108208937_108208953del | CA2739277736 | LIG4 | c.2115_2131del (p.Gln706LeufsTer4) c.2316_2332del (p.Gln773LeufsTer4) c.2352_2368del (p.Gln785LeufsTer4) c.2328_2344del (p.Gln777LeufsTer4) | ClinVar |
| 13 | g.108208951T>A | CA388613530 | LIG4 | c.2117A>T (p.Gln706Leu) c.2318A>T (p.Gln773Leu) c.2354A>T (p.Gln785Leu) c.2330A>T (p.Gln777Leu) | |
| 13 | g.108208951T>C | CA388613531 | LIG4 | c.2117A>G (p.Gln706Arg) c.2318A>G (p.Gln773Arg) c.2354A>G (p.Gln785Arg) c.2330A>G (p.Gln777Arg) | |
| 13 | g.108208951T>G | CA388613532 | LIG4 | c.2117A>C (p.Gln706Pro) c.2318A>C (p.Gln773Pro) c.2354A>C (p.Gln785Pro) c.2330A>C (p.Gln777Pro) | |
| 13 | g.108208952G>A | CA388613533 | LIG4 | c.2116C>T (p.Gln706Ter) c.2317C>T (p.Gln773Ter) c.2353C>T (p.Gln785Ter) c.2329C>T (p.Gln777Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108208952G>C | CA388613534 | LIG4 | c.2116C>G (p.Gln706Glu) c.2317C>G (p.Gln773Glu) c.2353C>G (p.Gln785Glu) c.2329C>G (p.Gln777Glu) | |
| 13 | g.108208952G= | CA2117793988 | LIG4 | c.2116C= (p.Gln706=) c.2317C= (p.Gln773=) c.2353C= (p.Gln785=) c.2329C= (p.Gln777=) | |
| 13 | g.108208952G>T | CA388613535 | LIG4 | c.2116C>A (p.Gln706Lys) c.2317C>A (p.Gln773Lys) c.2353C>A (p.Gln785Lys) c.2329C>A (p.Gln777Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108208953G>A | CA256179613 | LIG4 | c.2115C>T (p.Asn705=) c.2316C>T (p.Asn772=) c.2352C>T (p.Asn784=) c.2328C>T (p.Asn776=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108208953G>C | CA256179621 | LIG4 | c.2115C>G (p.Asn705Lys) c.2316C>G (p.Asn772Lys) c.2352C>G (p.Asn784Lys) c.2328C>G (p.Asn776Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108208953G= | CA2117793989 | LIG4 | c.2115C= (p.Asn705=) c.2316C= (p.Asn772=) c.2352C= (p.Asn784=) c.2328C= (p.Asn776=) | |
| 13 | g.108208953G>T | CA388613536 | LIG4 | c.2115C>A (p.Asn705Lys) c.2316C>A (p.Asn772Lys) c.2352C>A (p.Asn784Lys) c.2328C>A (p.Asn776Lys) | gnomAD v4 |
| 13 | g.108208954T>A | CA388613537 | LIG4 | c.2114A>T (p.Asn705Ile) c.2315A>T (p.Asn772Ile) c.2351A>T (p.Asn784Ile) c.2327A>T (p.Asn776Ile) | |
| 13 | g.108208954T>C | CA388613538 | LIG4 | c.2114A>G (p.Asn705Ser) c.2315A>G (p.Asn772Ser) c.2351A>G (p.Asn784Ser) c.2327A>G (p.Asn776Ser) | |
| 13 | g.108208954T>G | CA388613539 | LIG4 | c.2114A>C (p.Asn705Thr) c.2315A>C (p.Asn772Thr) c.2351A>C (p.Asn784Thr) c.2327A>C (p.Asn776Thr) | |
| 13 | g.108208955T>A | CA7043525 | LIG4 | c.2113A>T (p.Asn705Tyr) c.2314A>T (p.Asn772Tyr) c.2350A>T (p.Asn784Tyr) c.2326A>T (p.Asn776Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108208955T>C | CA388613540 | LIG4 | c.2113A>G (p.Asn705Asp) c.2314A>G (p.Asn772Asp) c.2350A>G (p.Asn784Asp) c.2326A>G (p.Asn776Asp) | |
| 13 | g.108208955T>G | CA388613541 | LIG4 | c.2113A>C (p.Asn705His) c.2314A>C (p.Asn772His) c.2350A>C (p.Asn784His) c.2326A>C (p.Asn776His) | |
| 13 | g.108208955T= | CA2117793990 | LIG4 | c.2113A= (p.Asn705=) c.2314A= (p.Asn772=) c.2350A= (p.Asn784=) c.2326A= (p.Asn776=) | |
| 13 | g.108208956C>A | CA388613542 | LIG4 | c.2112G>T (p.Leu704Phe) c.2313G>T (p.Leu771Phe) c.2349G>T (p.Leu783Phe) c.2325G>T (p.Leu775Phe) | |
| 13 | g.108208956C>G | CA388613543 | LIG4 | c.2112G>C (p.Leu704Phe) c.2313G>C (p.Leu771Phe) c.2349G>C (p.Leu783Phe) c.2325G>C (p.Leu775Phe) | gnomAD v4 |
| 13 | g.108208956C>T | CA484975429 | LIG4 | c.2112G>A (p.Leu704=) c.2313G>A (p.Leu771=) c.2349G>A (p.Leu783=) c.2325G>A (p.Leu775=) | |
| 13 | g.108208957A>C | CA388613544 | LIG4 | c.2111T>G (p.Leu704Trp) c.2312T>G (p.Leu771Trp) c.2348T>G (p.Leu783Trp) c.2324T>G (p.Leu775Trp) | |
| 13 | g.108208957A>G | CA388613545 | LIG4 | c.2111T>C (p.Leu704Ser) c.2312T>C (p.Leu771Ser) c.2348T>C (p.Leu783Ser) c.2324T>C (p.Leu775Ser) | |
| 13 | g.108208957A>T | CA388613546 | LIG4 | c.2111T>A (p.Leu704Ter) c.2312T>A (p.Leu771Ter) c.2348T>A (p.Leu783Ter) c.2324T>A (p.Leu775Ter) | |
| 13 | g.108208958A>C | CA388613547 | LIG4 | c.2110T>G (p.Leu704Val) c.2311T>G (p.Leu771Val) c.2347T>G (p.Leu783Val) c.2323T>G (p.Leu775Val) | |
| 13 | g.108208958A>G | CA484975436 | LIG4 | c.2110T>C (p.Leu704=) c.2311T>C (p.Leu771=) c.2347T>C (p.Leu783=) c.2323T>C (p.Leu775=) | |
| 13 | g.108208958A>T | CA388613548 | LIG4 | c.2110T>A (p.Leu704Met) c.2311T>A (p.Leu771Met) c.2347T>A (p.Leu783Met) c.2323T>A (p.Leu775Met) | |
| 13 | g.108208959G>A | CA7043526 | LIG4 | c.2109C>T (p.Asp703=) c.2310C>T (p.Asp770=) c.2346C>T (p.Asp782=) c.2322C>T (p.Asp774=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108208959G>C | CA388613549 | LIG4 | c.2109C>G (p.Asp703Glu) c.2310C>G (p.Asp770Glu) c.2346C>G (p.Asp782Glu) c.2322C>G (p.Asp774Glu) | |
| 13 | g.108208959G= | CA2117793991 | LIG4 | c.2109C= (p.Asp703=) c.2310C= (p.Asp770=) c.2346C= (p.Asp782=) c.2322C= (p.Asp774=) | |
| 13 | g.108208959G>T | CA388613550 | LIG4 | c.2109C>A (p.Asp703Glu) c.2310C>A (p.Asp770Glu) c.2346C>A (p.Asp782Glu) c.2322C>A (p.Asp774Glu) | |
| 13 | g.108208960T>A | CA388613551 | LIG4 | c.2108A>T (p.Asp703Val) c.2309A>T (p.Asp770Val) c.2345A>T (p.Asp782Val) c.2321A>T (p.Asp774Val) | |
| 13 | g.108208960T>C | CA388613552 | LIG4 | c.2108A>G (p.Asp703Gly) c.2309A>G (p.Asp770Gly) c.2345A>G (p.Asp782Gly) c.2321A>G (p.Asp774Gly) | |
| 13 | g.108208960T>G | CA388613553 | LIG4 | c.2108A>C (p.Asp703Ala) c.2309A>C (p.Asp770Ala) c.2345A>C (p.Asp782Ala) c.2321A>C (p.Asp774Ala) | |
| 13 | g.108208961C>A | CA388613554 | LIG4 | c.2107G>T (p.Asp703Tyr) c.2308G>T (p.Asp770Tyr) c.2344G>T (p.Asp782Tyr) c.2320G>T (p.Asp774Tyr) | |
| 13 | g.108208961C>G | CA388613555 | LIG4 | c.2107G>C (p.Asp703His) c.2308G>C (p.Asp770His) c.2344G>C (p.Asp782His) c.2320G>C (p.Asp774His) | |
| 13 | g.108208961C>T | CA388613556 | LIG4 | c.2107G>A (p.Asp703Asn) c.2308G>A (p.Asp770Asn) c.2344G>A (p.Asp782Asn) c.2320G>A (p.Asp774Asn) | |
| 13 | g.108208962T>A | CA484975444 | LIG4 | c.2106A>T (p.Thr702=) c.2307A>T (p.Thr769=) c.2343A>T (p.Thr781=) c.2319A>T (p.Thr773=) | |
| 13 | g.108208962T>C | CA484975449 | LIG4 | c.2106A>G (p.Thr702=) c.2307A>G (p.Thr769=) c.2343A>G (p.Thr781=) c.2319A>G (p.Thr773=) | |
| 13 | g.108208962T>G | CA484975448 | LIG4 | c.2106A>C (p.Thr702=) c.2307A>C (p.Thr769=) c.2343A>C (p.Thr781=) c.2319A>C (p.Thr773=) | |
| 13 | g.108208963G>A | CA7043527 | LIG4 | c.2105C>T (p.Thr702Ile) c.2306C>T (p.Thr769Ile) c.2342C>T (p.Thr781Ile) c.2318C>T (p.Thr773Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.108208963G>C | CA388613557 | LIG4 | c.2105C>G (p.Thr702Arg) c.2306C>G (p.Thr769Arg) c.2342C>G (p.Thr781Arg) c.2318C>G (p.Thr773Arg) | |
| 13 | g.108208963G= | CA2117793992 | LIG4 | c.2105C= (p.Thr702=) c.2306C= (p.Thr769=) c.2342C= (p.Thr781=) c.2318C= (p.Thr773=) | |
| 13 | g.108208963G>T | CA388613558 | LIG4 | c.2105C>A (p.Thr702Lys) c.2306C>A (p.Thr769Lys) c.2342C>A (p.Thr781Lys) c.2318C>A (p.Thr773Lys) | gnomAD v4 |
| 13 | g.108208964T>A | CA388613559 | LIG4 | c.2104A>T (p.Thr702Ser) c.2305A>T (p.Thr769Ser) c.2341A>T (p.Thr781Ser) c.2317A>T (p.Thr773Ser) | |
| 13 | g.108208964T>C | CA7043528 | LIG4 | c.2104A>G (p.Thr702Ala) c.2305A>G (p.Thr769Ala) c.2341A>G (p.Thr781Ala) c.2317A>G (p.Thr773Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.108208964T>G | CA388613560 | LIG4 | c.2104A>C (p.Thr702Pro) c.2305A>C (p.Thr769Pro) c.2341A>C (p.Thr781Pro) c.2317A>C (p.Thr773Pro) | |
| 13 | g.108208964T= | CA2117793993 | LIG4 | c.2104A= (p.Thr702=) c.2305A= (p.Thr769=) c.2341A= (p.Thr781=) c.2317A= (p.Thr773=) | |
| 13 | g.108208964dup | CA916082384 | LIG4 | c.2104dup (p.Thr702AsnfsTer14) c.2305dup (p.Thr769AsnfsTer14) c.2341dup (p.Thr781AsnfsTer14) c.2317dup (p.Thr773AsnfsTer14) | ClinVar dbSNP |