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 |
|---|---|---|---|---|---|
| 10 | g.104038414T>A | CA378067393 | COL17A1 | c.2927A>T (p.Tyr976Phe) c.3062A>T (p.Tyr1021Phe) | |
| 10 | g.104038414T>C | CA378067392 | COL17A1 | c.2927A>G (p.Tyr976Cys) c.3062A>G (p.Tyr1021Cys) | |
| 10 | g.104038414T>G | CA378067391 | COL17A1 | c.2927A>C (p.Tyr976Ser) c.3062A>C (p.Tyr1021Ser) | |
| 10 | g.104038415A>C | CA378067394 | COL17A1 | c.2926T>G (p.Tyr976Asp) c.3061T>G (p.Tyr1021Asp) | |
| 10 | g.104038415A>G | CA378067395 | COL17A1 | c.2926T>C (p.Tyr976His) c.3061T>C (p.Tyr1021His) | |
| 10 | g.104038415A>T | CA378067396 | COL17A1 | c.2926T>A (p.Tyr976Asn) c.3061T>A (p.Tyr1021Asn) | |
| 10 | g.104038416C>A | CA378067397 | COL17A1 | c.2925G>T (p.Glu975Asp) c.3060G>T (p.Glu1020Asp) | |
| 10 | g.104038416C>G | CA378067398 | COL17A1 | c.2925G>C (p.Glu975Asp) c.3060G>C (p.Glu1020Asp) | |
| 10 | g.104038416C>T | CA471344743 | COL17A1 | c.2925G>A (p.Glu975=) c.3060G>A (p.Glu1020=) | |
| 10 | g.104038417T>A | CA378067399 | COL17A1 | c.2924A>T (p.Glu975Val) c.3059A>T (p.Glu1020Val) | |
| 10 | g.104038417T>C | CA378067400 | COL17A1 | c.2924A>G (p.Glu975Gly) c.3059A>G (p.Glu1020Gly) | |
| 10 | g.104038417T>G | CA378067401 | COL17A1 | c.2924A>C (p.Glu975Ala) c.3059A>C (p.Glu1020Ala) | gnomAD v4 |
| 10 | g.104038418C>A | CA378067402 | COL17A1 | c.2923G>T (p.Glu975Ter) c.3058G>T (p.Glu1020Ter) | |
| 10 | g.104038418C>G | CA378067403 | COL17A1 | c.2923G>C (p.Glu975Gln) c.3058G>C (p.Glu1020Gln) | |
| 10 | g.104038418C>T | CA378067404 | COL17A1 | c.2923G>A (p.Glu975Lys) c.3058G>A (p.Glu1020Lys) | |
| 10 | g.104038419A>C | CA471344749 | COL17A1 | c.2922T>G (p.Ser974=) c.3057T>G (p.Ser1019=) | |
| 10 | g.104038419A>G | CA471344752 | COL17A1 | c.2922T>C (p.Ser974=) c.3057T>C (p.Ser1019=) | |
| 10 | g.104038419A>T | CA471344746 | COL17A1 | c.2922T>A (p.Ser974=) c.3057T>A (p.Ser1019=) | |
| 10 | g.104038420G>A | CA378067405 | COL17A1 | c.2921C>T (p.Ser974Phe) c.3056C>T (p.Ser1019Phe) | gnomAD v4 |
| 10 | g.104038420G>C | CA378067406 | COL17A1 | c.2921C>G (p.Ser974Cys) c.3056C>G (p.Ser1019Cys) | |
| 10 | g.104038420G>T | CA378067407 | COL17A1 | c.2921C>A (p.Ser974Tyr) c.3056C>A (p.Ser1019Tyr) | |
| 10 | g.104038421A>C | CA378067409 | COL17A1 | c.2920T>G (p.Ser974Ala) c.3055T>G (p.Ser1019Ala) | |
| 10 | g.104038421A>G | CA378067410 | COL17A1 | c.2920T>C (p.Ser974Pro) c.3055T>C (p.Ser1019Pro) | |
| 10 | g.104038421A>T | CA378067408 | COL17A1 | c.2920T>A (p.Ser974Thr) c.3055T>A (p.Ser1019Thr) | |
| 10 | g.104038422G>A | CA471344756 | COL17A1 | c.2919C>T (p.Ile973=) c.3054C>T (p.Ile1018=) | |
| 10 | g.104038422G>C | CA378067411 | COL17A1 | c.2919C>G (p.Ile973Met) c.3054C>G (p.Ile1018Met) | |
| 10 | g.104038422G>T | CA471344754 | COL17A1 | c.2919C>A (p.Ile973=) c.3054C>A (p.Ile1018=) | |
| 10 | g.104038423A>C | CA378067412 | COL17A1 | c.2918T>G (p.Ile973Ser) c.3053T>G (p.Ile1018Ser) | |
| 10 | g.104038423A>G | CA378067413 | COL17A1 | c.2918T>C (p.Ile973Thr) c.3053T>C (p.Ile1018Thr) | |
| 10 | g.104038423A>T | CA378067414 | COL17A1 | c.2918T>A (p.Ile973Asn) c.3053T>A (p.Ile1018Asn) | COSMIC |
| 10 | g.104038424T>A | CA378067415 | COL17A1 | c.2917A>T (p.Ile973Phe) c.3052A>T (p.Ile1018Phe) | |
| 10 | g.104038424T>C | CA378067416 | COL17A1 | c.2917A>G (p.Ile973Val) c.3052A>G (p.Ile1018Val) | |
| 10 | g.104038424T>G | CA378067417 | COL17A1 | c.2917A>C (p.Ile973Leu) c.3052A>C (p.Ile1018Leu) | |
| 10 | g.104038425G>A | CA471344759 | COL17A1 | c.2916C>T (p.Tyr972=) c.3051C>T (p.Tyr1017=) | ClinVar dbSNP |
| 10 | g.104038425G>C | CA378067418 | COL17A1 | c.2916C>G (p.Tyr972Ter) c.3051C>G (p.Tyr1017Ter) | |
| 10 | g.104038425G>T | CA378067419 | COL17A1 | c.2916C>A (p.Tyr972Ter) c.3051C>A (p.Tyr1017Ter) | |
| 10 | g.104038426T>A | CA378067420 | COL17A1 | c.2915A>T (p.Tyr972Phe) c.3050A>T (p.Tyr1017Phe) | |
| 10 | g.104038426T>C | CA378067421 | COL17A1 | c.2915A>G (p.Tyr972Cys) c.3050A>G (p.Tyr1017Cys) | |
| 10 | g.104038426T>G | CA378067422 | COL17A1 | c.2915A>C (p.Tyr972Ser) c.3050A>C (p.Tyr1017Ser) | |
| 10 | g.104038427A>C | CA378067424 | COL17A1 | c.2914T>G (p.Tyr972Asp) c.3049T>G (p.Tyr1017Asp) | |
| 10 | g.104038427A>G | CA378067425 | COL17A1 | c.2914T>C (p.Tyr972His) c.3049T>C (p.Tyr1017His) | |
| 10 | g.104038427A>T | CA378067423 | COL17A1 | c.2914T>A (p.Tyr972Asn) c.3049T>A (p.Tyr1017Asn) | |
| 10 | g.104038428C>A | CA378067426 | COL17A1 | c.2913G>T (p.Gln971His) c.3048G>T (p.Gln1016His) | |
| 10 | g.104038428C>G | CA378067427 | COL17A1 | c.2913G>C (p.Gln971His) c.3048G>C (p.Gln1016His) | |
| 10 | g.104038428C>T | CA471344763 | COL17A1 | c.2913G>A (p.Gln971=) c.3048G>A (p.Gln1016=) | |
| 10 | g.104038429T>A | CA378067428 | COL17A1 | c.2912A>T (p.Gln971Leu) c.3047A>T (p.Gln1016Leu) | |
| 10 | g.104038429T>C | CA378067429 | COL17A1 | c.2912A>G (p.Gln971Arg) c.3047A>G (p.Gln1016Arg) | |
| 10 | g.104038429T>G | CA378067430 | COL17A1 | c.2912A>C (p.Gln971Pro) c.3047A>C (p.Gln1016Pro) | |
| 10 | g.104038430G>A | CA378067433 | COL17A1 | c.2911C>T (p.Gln971Ter) c.3046C>T (p.Gln1016Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104038430G>C | CA378067431 | COL17A1 | c.2911C>G (p.Gln971Glu) c.3046C>G (p.Gln1016Glu) |