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.108211157G>A | CA388624508 | LIG4 | c.-90C>T (n.-90C>T) c.112C>T (p.His38Tyr) c.148C>T (p.His50Tyr) c.124C>T (p.His42Tyr) | gnomAD v4 |
| 13 | g.108211157G>C | CA388624513 | LIG4 | c.-90C>G (n.-90C>G) c.112C>G (p.His38Asp) c.148C>G (p.His50Asp) c.124C>G (p.His42Asp) | |
| 13 | g.108211157G>T | CA388624515 | LIG4 | c.-90C>A (n.-90C>A) c.112C>A (p.His38Asn) c.148C>A (p.His50Asn) c.124C>A (p.His42Asn) | |
| 13 | g.108211158T>A | CA388624517 | LIG4 | c.-91A>T (n.-91A>T) c.111A>T (p.Arg37Ser) c.147A>T (p.Arg49Ser) c.123A>T (p.Arg41Ser) | |
| 13 | g.108211158T>C | CA484976314 | LIG4 | c.-91A>G (n.-91A>G) c.111A>G (p.Arg37=) c.147A>G (p.Arg49=) c.123A>G (p.Arg41=) | |
| 13 | g.108211158T>G | CA388624518 | LIG4 | c.-91A>C (n.-91A>C) c.111A>C (p.Arg37Ser) c.147A>C (p.Arg49Ser) c.123A>C (p.Arg41Ser) | |
| 13 | g.108211159C>A | CA388624521 | LIG4 | c.-92G>T (n.-92G>T) c.110G>T (p.Arg37Ile) c.146G>T (p.Arg49Ile) c.122G>T (p.Arg41Ile) | |
| 13 | g.108211159C>G | CA388624524 | LIG4 | c.-92G>C (n.-92G>C) c.110G>C (p.Arg37Thr) c.146G>C (p.Arg49Thr) c.122G>C (p.Arg41Thr) | |
| 13 | g.108211159C>T | CA388624527 | LIG4 | c.-92G>A (n.-92G>A) c.110G>A (p.Arg37Lys) c.146G>A (p.Arg49Lys) c.122G>A (p.Arg41Lys) | |
| 13 | g.108211160T>A | CA388624532 | LIG4 | c.-93A>T (n.-93A>T) c.109A>T (p.Arg37Ter) c.145A>T (p.Arg49Ter) c.121A>T (p.Arg41Ter) | gnomAD v4 COSMIC |
| 13 | g.108211160T>C | CA388624529 | LIG4 | c.-93A>G (n.-93A>G) c.109A>G (p.Arg37Gly) c.145A>G (p.Arg49Gly) c.121A>G (p.Arg41Gly) | |
| 13 | g.108211160T>G | CA484976316 | LIG4 | c.-93A>C (n.-93A>C) c.109A>C (p.Arg37=) c.145A>C (p.Arg49=) c.121A>C (p.Arg41=) | |
| 13 | g.108211161G>A | CA484976317 | LIG4 | c.-94C>T (n.-94C>T) c.108C>T (p.Ile36=) c.144C>T (p.Ile48=) c.120C>T (p.Ile40=) | |
| 13 | g.108211161G>C | CA388624534 | LIG4 | c.-94C>G (n.-94C>G) c.108C>G (p.Ile36Met) c.144C>G (p.Ile48Met) c.120C>G (p.Ile40Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108211161G= | CA2117794898 | LIG4 | c.-94C= (n.-94C=) c.108C= (p.Ile36=) c.144C= (p.Ile48=) c.120C= (p.Ile40=) | |
| 13 | g.108211161G>T | CA7043885 | LIG4 | c.-94C>A (n.-94C>A) c.108C>A (p.Ile36=) c.144C>A (p.Ile48=) c.120C>A (p.Ile40=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108211162A= | CA2117794899 | LIG4 | c.-95T= (n.-95T=) c.107T= (p.Ile36=) c.143T= (p.Ile48=) c.119T= (p.Ile40=) | |
| 13 | g.108211162A>C | CA388624539 | LIG4 | c.-95T>G (n.-95T>G) c.107T>G (p.Ile36Ser) c.143T>G (p.Ile48Ser) c.119T>G (p.Ile40Ser) | |
| 13 | g.108211162A>G | CA388624542 | LIG4 | c.-95T>C (n.-95T>C) c.107T>C (p.Ile36Thr) c.143T>C (p.Ile48Thr) c.119T>C (p.Ile40Thr) | |
| 13 | g.108211162A>T | CA388624544 | LIG4 | c.-95T>A (n.-95T>A) c.107T>A (p.Ile36Asn) c.143T>A (p.Ile48Asn) c.119T>A (p.Ile40Asn) | |
| 13 | g.108211163T>A | CA388624547 | LIG4 | c.-96A>T (n.-96A>T) c.106A>T (p.Ile36Phe) c.142A>T (p.Ile48Phe) c.118A>T (p.Ile40Phe) | |
| 13 | g.108211163T>C | CA388624549 | LIG4 | c.-96A>G (n.-96A>G) c.106A>G (p.Ile36Val) c.142A>G (p.Ile48Val) c.118A>G (p.Ile40Val) | |
| 13 | g.108211163T>G | CA388624552 | LIG4 | c.-96A>C (n.-96A>C) c.106A>C (p.Ile36Leu) c.142A>C (p.Ile48Leu) c.118A>C (p.Ile40Leu) | gnomAD v4 |
| 13 | g.108211168dup | CA612360461 | LIG4 | c.-96dup (n.-96dup) c.106dup (p.Ile36AsnfsTer16) c.142dup (p.Ile48AsnfsTer16) c.118dup (p.Ile40AsnfsTer16) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108211168del | CA2623644597 | LIG4 | c.-96del (n.-96del) c.106del (p.Ile36SerfsTer8) c.142del (p.Ile48SerfsTer8) c.118del (p.Ile40SerfsTer8) | gnomAD v4 |
| 13 | g.108211164T>A | CA388624554 | LIG4 | c.-97A>T (n.-97A>T) c.105A>T (p.Lys35Asn) c.141A>T (p.Lys47Asn) c.117A>T (p.Lys39Asn) | |
| 13 | g.108211164T>C | CA484976319 | LIG4 | c.-97A>G (n.-97A>G) c.105A>G (p.Lys35=) c.141A>G (p.Lys47=) c.117A>G (p.Lys39=) | |
| 13 | g.108211164T>G | CA388624555 | LIG4 | c.-97A>C (n.-97A>C) c.105A>C (p.Lys35Asn) c.141A>C (p.Lys47Asn) c.117A>C (p.Lys39Asn) | |
| 13 | g.108211165T>A | CA388624557 | LIG4 | c.-98A>T (n.-98A>T) c.104A>T (p.Lys35Ile) c.140A>T (p.Lys47Ile) c.116A>T (p.Lys39Ile) | |
| 13 | g.108211165T>C | CA388624559 | LIG4 | c.-98A>G (n.-98A>G) c.104A>G (p.Lys35Arg) c.140A>G (p.Lys47Arg) c.116A>G (p.Lys39Arg) | |
| 13 | g.108211165T>G | CA388624561 | LIG4 | c.-98A>C (n.-98A>C) c.104A>C (p.Lys35Thr) c.140A>C (p.Lys47Thr) c.116A>C (p.Lys39Thr) | |
| 13 | g.108211166T>A | CA388624563 | LIG4 | c.-99A>T (n.-99A>T) c.103A>T (p.Lys35Ter) c.139A>T (p.Lys47Ter) c.115A>T (p.Lys39Ter) | |
| 13 | g.108211166T>C | CA7043886 | LIG4 | c.-99A>G (n.-99A>G) c.103A>G (p.Lys35Glu) c.139A>G (p.Lys47Glu) c.115A>G (p.Lys39Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108211166T>G | CA388624564 | LIG4 | c.-99A>C (n.-99A>C) c.103A>C (p.Lys35Gln) c.139A>C (p.Lys47Gln) c.115A>C (p.Lys39Gln) | |
| 13 | g.108211166T= | CA2117794900 | LIG4 | c.-99A= (n.-99A=) c.103A= (p.Lys35=) c.139A= (p.Lys47=) c.115A= (p.Lys39=) | |
| 13 | g.108211167T>A | CA388624569 | LIG4 | c.-100A>T (n.-100A>T) c.102A>T (p.Glu34Asp) c.138A>T (p.Glu46Asp) c.114A>T (p.Glu38Asp) | COSMIC |
| 13 | g.108211167T>C | CA484976321 | LIG4 | c.-100A>G (n.-100A>G) c.102A>G (p.Glu34=) c.138A>G (p.Glu46=) c.114A>G (p.Glu38=) | |
| 13 | g.108211167T>G | CA388624570 | LIG4 | c.-100A>C (n.-100A>C) c.102A>C (p.Glu34Asp) c.138A>C (p.Glu46Asp) c.114A>C (p.Glu38Asp) | |
| 13 | g.108211168T>A | CA388624572 | LIG4 | c.-101A>T (n.-101A>T) c.101A>T (p.Glu34Val) c.137A>T (p.Glu46Val) c.113A>T (p.Glu38Val) | |
| 13 | g.108211168T>C | CA388624581 | LIG4 | c.-101A>G (n.-101A>G) c.101A>G (p.Glu34Gly) c.137A>G (p.Glu46Gly) c.113A>G (p.Glu38Gly) | |
| 13 | g.108211168T>G | CA388624587 | LIG4 | c.-101A>C (n.-101A>C) c.101A>C (p.Glu34Ala) c.137A>C (p.Glu46Ala) c.113A>C (p.Glu38Ala) | |
| 13 | g.108211169C>A | CA388624593 | LIG4 | c.-102G>T (n.-102G>T) c.100G>T (p.Glu34Ter) c.136G>T (p.Glu46Ter) c.112G>T (p.Glu38Ter) | |
| 13 | g.108211169C>G | CA388624592 | LIG4 | c.-102G>C (n.-102G>C) c.100G>C (p.Glu34Gln) c.136G>C (p.Glu46Gln) c.112G>C (p.Glu38Gln) | |
| 13 | g.108211169C>T | CA388624590 | LIG4 | c.-102G>A (n.-102G>A) c.100G>A (p.Glu34Lys) c.136G>A (p.Glu46Lys) c.112G>A (p.Glu38Lys) | |
| 13 | g.108211170T>A | CA484976325 | LIG4 | c.-103A>T (n.-103A>T) c.99A>T (p.Ala33=) c.135A>T (p.Ala45=) c.111A>T (p.Ala37=) | |
| 13 | g.108211170T>C | CA484976326 | LIG4 | c.-103A>G (n.-103A>G) c.99A>G (p.Ala33=) c.135A>G (p.Ala45=) c.111A>G (p.Ala37=) | |
| 13 | g.108211170T>G | CA484976327 | LIG4 | c.-103A>C (n.-103A>C) c.99A>C (p.Ala33=) c.135A>C (p.Ala45=) c.111A>C (p.Ala37=) | |
| 13 | g.108211171G>A | CA388624596 | LIG4 | c.-104C>T (n.-104C>T) c.98C>T (p.Ala33Val) c.134C>T (p.Ala45Val) c.110C>T (p.Ala37Val) | |
| 13 | g.108211171G>C | CA388624599 | LIG4 | c.-104C>G (n.-104C>G) c.98C>G (p.Ala33Gly) c.134C>G (p.Ala45Gly) c.110C>G (p.Ala37Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108211171G= | CA2117794901 | LIG4 | c.-104C= (n.-104C=) c.98C= (p.Ala33=) c.134C= (p.Ala45=) c.110C= (p.Ala37=) |