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 |
|---|---|---|---|---|---|
| 7 | g.41966285T>A | CA367320342 | GLI3 | c.2788A>T (p.Lys930Ter) c.2614A>T (p.Lys872Ter) n.2765A>T c.2611A>T (p.Lys871Ter) c.2785A>T (p.Lys929Ter) | |
| 7 | g.41966285T>C | CA367320343 | GLI3 | c.2788A>G (p.Lys930Glu) c.2614A>G (p.Lys872Glu) n.2765A>G c.2611A>G (p.Lys871Glu) c.2785A>G (p.Lys929Glu) | gnomAD v4 |
| 7 | g.41966285T>G | CA367320344 | GLI3 | c.2788A>C (p.Lys930Gln) c.2614A>C (p.Lys872Gln) n.2765A>C c.2611A>C (p.Lys871Gln) c.2785A>C (p.Lys929Gln) | gnomAD v4 |
| 7 | g.41966286G>A | CA454662388 | GLI3 | c.2787C>T (p.Leu929=) c.2613C>T (p.Leu871=) n.2764C>T c.2610C>T (p.Leu870=) c.2784C>T (p.Leu928=) | gnomAD v4 |
| 7 | g.41966286G>C | CA454662390 | GLI3 | c.2787C>G (p.Leu929=) c.2613C>G (p.Leu871=) n.2764C>G c.2610C>G (p.Leu870=) c.2784C>G (p.Leu928=) | |
| 7 | g.41966286G>T | CA454662391 | GLI3 | c.2787C>A (p.Leu929=) c.2613C>A (p.Leu871=) n.2764C>A c.2610C>A (p.Leu870=) c.2784C>A (p.Leu928=) | gnomAD v4 |
| 7 | g.41966287A>C | CA367320345 | GLI3 | c.2786T>G (p.Leu929Arg) c.2612T>G (p.Leu871Arg) n.2763T>G c.2609T>G (p.Leu870Arg) c.2783T>G (p.Leu928Arg) | |
| 7 | g.41966287A>G | CA367320346 | GLI3 | c.2786T>C (p.Leu929Pro) c.2612T>C (p.Leu871Pro) n.2763T>C c.2609T>C (p.Leu870Pro) c.2783T>C (p.Leu928Pro) | |
| 7 | g.41966287A>T | CA367320347 | GLI3 | c.2786T>A (p.Leu929His) c.2612T>A (p.Leu871His) n.2763T>A c.2609T>A (p.Leu870His) c.2783T>A (p.Leu928His) | |
| 7 | g.41966288G>A | CA367320348 | GLI3 | c.2785C>T (p.Leu929Phe) c.2611C>T (p.Leu871Phe) n.2762C>T c.2608C>T (p.Leu870Phe) c.2782C>T (p.Leu928Phe) | |
| 7 | g.41966288G>C | CA367320349 | GLI3 | c.2785C>G (p.Leu929Val) c.2611C>G (p.Leu871Val) n.2762C>G c.2608C>G (p.Leu870Val) c.2782C>G (p.Leu928Val) | |
| 7 | g.41966288G>T | CA367320350 | GLI3 | c.2785C>A (p.Leu929Ile) c.2611C>A (p.Leu871Ile) n.2762C>A c.2608C>A (p.Leu870Ile) c.2782C>A (p.Leu928Ile) | gnomAD v4 COSMIC |
| 7 | g.41966289G>A | CA4230524 | GLI3 | c.2784C>T (p.Arg928=) c.2610C>T (p.Arg870=) n.2761C>T c.2607C>T (p.Arg869=) c.2781C>T (p.Arg927=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966289G>C | CA454662399 | GLI3 | c.2784C>G (p.Arg928=) c.2610C>G (p.Arg870=) n.2761C>G c.2607C>G (p.Arg869=) c.2781C>G (p.Arg927=) | |
| 7 | g.41966289G= | CA1702661218 | GLI3 | c.2784C= (p.Arg928=) c.2610C= (p.Arg870=) n.2761C= c.2607C= (p.Arg869=) c.2781C= (p.Arg927=) | |
| 7 | g.41966289G>T | CA454662400 | GLI3 | c.2784C>A (p.Arg928=) c.2610C>A (p.Arg870=) n.2761C>A c.2607C>A (p.Arg869=) c.2781C>A (p.Arg927=) | gnomAD v4 |
| 7 | g.41966290C>A | CA367320351 | GLI3 | c.2783G>T (p.Arg928Leu) c.2609G>T (p.Arg870Leu) n.2760G>T c.2606G>T (p.Arg869Leu) c.2780G>T (p.Arg927Leu) | dbSNP gnomAD v4 |
| 7 | g.41966290C= | CA1702661219 | GLI3 | c.2783G= (p.Arg928=) c.2609G= (p.Arg870=) n.2760G= c.2606G= (p.Arg869=) c.2780G= (p.Arg927=) | |
| 7 | g.41966290C>G | CA367320352 | GLI3 | c.2783G>C (p.Arg928Pro) c.2609G>C (p.Arg870Pro) n.2760G>C c.2606G>C (p.Arg869Pro) c.2780G>C (p.Arg927Pro) | |
| 7 | g.41966290C>T | CA367320353 | GLI3 | c.2783G>A (p.Arg928His) c.2609G>A (p.Arg870His) n.2760G>A c.2606G>A (p.Arg869His) c.2780G>A (p.Arg927His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41966291G>A | CA367320356 | GLI3 | c.2782C>T (p.Arg928Cys) c.2608C>T (p.Arg870Cys) n.2759C>T c.2605C>T (p.Arg869Cys) c.2779C>T (p.Arg927Cys) | dbSNP gnomAD v4 |
| 7 | g.41966291G>C | CA367320354 | GLI3 | c.2782C>G (p.Arg928Gly) c.2608C>G (p.Arg870Gly) n.2759C>G c.2605C>G (p.Arg869Gly) c.2779C>G (p.Arg927Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966291G= | CA1702661220 | GLI3 | c.2782C= (p.Arg928=) c.2608C= (p.Arg870=) n.2759C= c.2605C= (p.Arg869=) c.2779C= (p.Arg927=) | |
| 7 | g.41966291G>T | CA367320355 | GLI3 | c.2782C>A (p.Arg928Ser) c.2608C>A (p.Arg870Ser) n.2759C>A c.2605C>A (p.Arg869Ser) c.2779C>A (p.Arg927Ser) | dbSNP gnomAD v4 |
| 7 | g.41966292G>A | CA454662404 | GLI3 | c.2781C>T (p.Tyr927=) c.2607C>T (p.Tyr869=) n.2758C>T c.2604C>T (p.Tyr868=) c.2778C>T (p.Tyr926=) | gnomAD v4 |
| 7 | g.41966292G>C | CA367320357 | GLI3 | c.2781C>G (p.Tyr927Ter) c.2607C>G (p.Tyr869Ter) n.2758C>G c.2604C>G (p.Tyr868Ter) c.2778C>G (p.Tyr926Ter) | |
| 7 | g.41966292G>T | CA367320358 | GLI3 | c.2781C>A (p.Tyr927Ter) c.2607C>A (p.Tyr869Ter) n.2758C>A c.2604C>A (p.Tyr868Ter) c.2778C>A (p.Tyr926Ter) | gnomAD v4 |
| 7 | g.41966293T>A | CA367320359 | GLI3 | c.2780A>T (p.Tyr927Phe) c.2606A>T (p.Tyr869Phe) n.2757A>T c.2603A>T (p.Tyr868Phe) c.2777A>T (p.Tyr926Phe) | |
| 7 | g.41966293T>C | CA367320360 | GLI3 | c.2780A>G (p.Tyr927Cys) c.2606A>G (p.Tyr869Cys) n.2757A>G c.2603A>G (p.Tyr868Cys) c.2777A>G (p.Tyr926Cys) | gnomAD v4 |
| 7 | g.41966293T>G | CA367320361 | GLI3 | c.2780A>C (p.Tyr927Ser) c.2606A>C (p.Tyr869Ser) n.2757A>C c.2603A>C (p.Tyr868Ser) c.2777A>C (p.Tyr926Ser) | |
| 7 | g.41966294A>C | CA367320364 | GLI3 | c.2779T>G (p.Tyr927Asp) c.2605T>G (p.Tyr869Asp) n.2756T>G c.2602T>G (p.Tyr868Asp) c.2776T>G (p.Tyr926Asp) | |
| 7 | g.41966294A>G | CA367320363 | GLI3 | c.2779T>C (p.Tyr927His) c.2605T>C (p.Tyr869His) n.2756T>C c.2602T>C (p.Tyr868His) c.2776T>C (p.Tyr926His) | |
| 7 | g.41966294A>T | CA367320362 | GLI3 | c.2779T>A (p.Tyr927Asn) c.2605T>A (p.Tyr869Asn) n.2756T>A c.2602T>A (p.Tyr868Asn) c.2776T>A (p.Tyr926Asn) | |
| 7 | g.41966295C>A | CA367320365 | GLI3 | c.2778G>T (p.Gln926His) c.2604G>T (p.Gln868His) n.2755G>T c.2601G>T (p.Gln867His) c.2775G>T (p.Gln925His) | |
| 7 | g.41966295C= | CA1702661221 | GLI3 | c.2778G= (p.Gln926=) c.2604G= (p.Gln868=) n.2755G= c.2601G= (p.Gln867=) c.2775G= (p.Gln925=) | |
| 7 | g.41966295C>G | CA367320366 | GLI3 | c.2778G>C (p.Gln926His) c.2604G>C (p.Gln868His) n.2755G>C c.2601G>C (p.Gln867His) c.2775G>C (p.Gln925His) | |
| 7 | g.41966295C>T | CA4230525 | GLI3 | c.2778G>A (p.Gln926=) c.2604G>A (p.Gln868=) n.2755G>A c.2601G>A (p.Gln867=) c.2775G>A (p.Gln925=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966298_41966300del | CA2695207661 | GLI3 | c.2776_2778del (p.Gln926del) c.2602_2604del (p.Gln868del) n.2753_2755del c.2599_2601del (p.Gln867del) c.2773_2775del (p.Gln925del) | |
| 7 | g.41966296T>A | CA367320367 | GLI3 | c.2777A>T (p.Gln926Leu) c.2603A>T (p.Gln868Leu) n.2754A>T c.2600A>T (p.Gln867Leu) c.2774A>T (p.Gln925Leu) | |
| 7 | g.41966296T>C | CA367320368 | GLI3 | c.2777A>G (p.Gln926Arg) c.2603A>G (p.Gln868Arg) n.2754A>G c.2600A>G (p.Gln867Arg) c.2774A>G (p.Gln925Arg) | |
| 7 | g.41966296T>G | CA367320369 | GLI3 | c.2777A>C (p.Gln926Pro) c.2603A>C (p.Gln868Pro) n.2754A>C c.2600A>C (p.Gln867Pro) c.2774A>C (p.Gln925Pro) | |
| 7 | g.41966297G>A | CA367320371 | GLI3 | c.2776C>T (p.Gln926Ter) c.2602C>T (p.Gln868Ter) n.2753C>T c.2599C>T (p.Gln867Ter) c.2773C>T (p.Gln925Ter) | gnomAD v4 |
| 7 | g.41966297G>C | CA367320370 | GLI3 | c.2776C>G (p.Gln926Glu) c.2602C>G (p.Gln868Glu) n.2753C>G c.2599C>G (p.Gln867Glu) c.2773C>G (p.Gln925Glu) | dbSNP |
| 7 | g.41966297G= | CA1702661222 | GLI3 | c.2776C= (p.Gln926=) c.2602C= (p.Gln868=) n.2753C= c.2599C= (p.Gln867=) c.2773C= (p.Gln925=) | |
| 7 | g.41966297G>T | CA156905337 | GLI3 | c.2776C>A (p.Gln926Lys) c.2602C>A (p.Gln868Lys) n.2753C>A c.2599C>A (p.Gln867Lys) c.2773C>A (p.Gln925Lys) | dbSNP gnomAD v4 |
| 7 | g.41966298C>A | CA367320372 | GLI3 | c.2775G>T (p.Gln925His) c.2601G>T (p.Gln867His) n.2752G>T c.2598G>T (p.Gln866His) c.2772G>T (p.Gln924His) | gnomAD v4 |
| 7 | g.41966298C>G | CA367320373 | GLI3 | c.2775G>C (p.Gln925His) c.2601G>C (p.Gln867His) n.2752G>C c.2598G>C (p.Gln866His) c.2772G>C (p.Gln924His) | |
| 7 | g.41966298C>T | CA454662426 | GLI3 | c.2775G>A (p.Gln925=) c.2601G>A (p.Gln867=) n.2752G>A c.2598G>A (p.Gln866=) c.2772G>A (p.Gln924=) | gnomAD v4 |
| 7 | g.41966299T>A | CA367320374 | GLI3 | c.2774A>T (p.Gln925Leu) c.2600A>T (p.Gln867Leu) n.2751A>T c.2597A>T (p.Gln866Leu) c.2771A>T (p.Gln924Leu) | |
| 7 | g.41966299T>C | CA367320375 | GLI3 | c.2774A>G (p.Gln925Arg) c.2600A>G (p.Gln867Arg) n.2751A>G c.2597A>G (p.Gln866Arg) c.2771A>G (p.Gln924Arg) |