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.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) | |
| 10 | g.104038430G= | CA1933389953 | COL17A1 | c.2911C= (p.Gln971=) c.3046C= (p.Gln1016=) | |
| 10 | g.104038430G>T | CA378067432 | COL17A1 | c.2911C>A (p.Gln971Lys) c.3046C>A (p.Gln1016Lys) | |
| 10 | g.104038431C>A | CA378067434 | COL17A1 | c.2910G>T (p.Gln970His) c.3045G>T (p.Gln1015His) | |
| 10 | g.104038431C= | CA1933389954 | COL17A1 | c.2910G= (p.Gln970=) c.3045G= (p.Gln1015=) | |
| 10 | g.104038431C>G | CA378067435 | COL17A1 | c.2910G>C (p.Gln970His) c.3045G>C (p.Gln1015His) | |
| 10 | g.104038431C>T | CA471344764 | COL17A1 | c.2910G>A (p.Gln970=) c.3045G>A (p.Gln1015=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104038432T>A | CA378067436 | COL17A1 | c.2909A>T (p.Gln970Leu) c.3044A>T (p.Gln1015Leu) | |
| 10 | g.104038432T>C | CA378067437 | COL17A1 | c.2909A>G (p.Gln970Arg) c.3044A>G (p.Gln1015Arg) | COSMIC |
| 10 | g.104038432T>G | CA378067438 | COL17A1 | c.2909A>C (p.Gln970Pro) c.3044A>C (p.Gln1015Pro) | |
| 10 | g.104038433G>A | CA378067439 | COL17A1 | c.2908C>T (p.Gln970Ter) c.3043C>T (p.Gln1015Ter) | ClinVar |
| 10 | g.104038433G>C | CA378067441 | COL17A1 | c.2908C>G (p.Gln970Glu) c.3043C>G (p.Gln1015Glu) | |
| 10 | g.104038433G>T | CA378067440 | COL17A1 | c.2908C>A (p.Gln970Lys) c.3043C>A (p.Gln1015Lys) | |
| 10 | g.104038434A>C | CA378067442 | COL17A1 | c.2907T>G (p.Ile969Met) c.3042T>G (p.Ile1014Met) | |
| 10 | g.104038434A>G | CA471344766 | COL17A1 | c.2907T>C (p.Ile969=) c.3042T>C (p.Ile1014=) | COSMIC |
| 10 | g.104038434A>T | CA471344767 | COL17A1 | c.2907T>A (p.Ile969=) c.3042T>A (p.Ile1014=) | |
| 10 | g.104038435A>C | CA378067443 | COL17A1 | c.2906T>G (p.Ile969Ser) c.3041T>G (p.Ile1014Ser) | gnomAD v4 |
| 10 | g.104038435A>G | CA378067444 | COL17A1 | c.2906T>C (p.Ile969Thr) c.3041T>C (p.Ile1014Thr) | |
| 10 | g.104038435A>T | CA378067445 | COL17A1 | c.2906T>A (p.Ile969Asn) c.3041T>A (p.Ile1014Asn) |