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.104034204_104034206dup | CA596111108 | COL17A1 | c.3651_3653dup (p.Ser1218_Val1219insSer) c.3897_3899dup (p.Ser1300_Val1301insSer) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034205G>A | CA5677767 | COL17A1 | c.3650C>T (p.Ser1217Leu) c.3896C>T (p.Ser1299Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034205G>C | CA378065529 | COL17A1 | c.3650C>G (p.Ser1217Ter) c.3896C>G (p.Ser1299Ter) | ClinVar |
| 10 | g.104034205G= | CA1933418363 | COL17A1 | c.3650C= (p.Ser1217=) c.3896C= (p.Ser1299=) | |
| 10 | g.104034205G>T | CA378065531 | COL17A1 | c.3650C>A (p.Ser1217Ter) c.3896C>A (p.Ser1299Ter) | |
| 10 | g.104034206A>C | CA378065535 | COL17A1 | c.3649T>G (p.Ser1217Ala) c.3895T>G (p.Ser1299Ala) | |
| 10 | g.104034206A>G | CA378065532 | COL17A1 | c.3649T>C (p.Ser1217Pro) c.3895T>C (p.Ser1299Pro) | |
| 10 | g.104034206A>T | CA378065534 | COL17A1 | c.3649T>A (p.Ser1217Thr) c.3895T>A (p.Ser1299Thr) | |
| 10 | g.104034207G>A | CA471503026 | COL17A1 | c.3648C>T (p.Ser1216=) c.3894C>T (p.Ser1298=) | |
| 10 | g.104034207G>C | CA378065537 | COL17A1 | c.3648C>G (p.Ser1216Arg) c.3894C>G (p.Ser1298Arg) | |
| 10 | g.104034207G>T | CA378065538 | COL17A1 | c.3648C>A (p.Ser1216Arg) c.3894C>A (p.Ser1298Arg) | gnomAD v4 |
| 10 | g.104034208C>A | CA378065539 | COL17A1 | c.3647G>T (p.Ser1216Ile) c.3893G>T (p.Ser1298Ile) | |
| 10 | g.104034208C= | CA1933418365 | COL17A1 | c.3647G= (p.Ser1216=) c.3893G= (p.Ser1298=) | |
| 10 | g.104034208C>G | CA378065541 | COL17A1 | c.3647G>C (p.Ser1216Thr) c.3893G>C (p.Ser1298Thr) | gnomAD v4 |
| 10 | g.104034208C>T | CA378065542 | COL17A1 | c.3647G>A (p.Ser1216Asn) c.3893G>A (p.Ser1298Asn) | dbSNP |
| 10 | g.104034213_104034239del | CA2789320504 | COL17A1 | c.3621_3647del (p.Arg1208_Ser1216del) c.3867_3893del (p.Arg1290_Ser1298del) | |
| 10 | g.104034209T>A | CA378065544 | COL17A1 | c.3646A>T (p.Ser1216Cys) c.3892A>T (p.Ser1298Cys) | |
| 10 | g.104034209T>C | CA378065545 | COL17A1 | c.3646A>G (p.Ser1216Gly) c.3892A>G (p.Ser1298Gly) | |
| 10 | g.104034209T>G | CA378065547 | COL17A1 | c.3646A>C (p.Ser1216Arg) c.3892A>C (p.Ser1298Arg) | |
| 10 | g.104034210G>A | CA212450124 | COL17A1 | c.3645C>T (p.His1215=) c.3891C>T (p.His1297=) | ClinVar dbSNP |
| 10 | g.104034210G>C | CA378065548 | COL17A1 | c.3645C>G (p.His1215Gln) c.3891C>G (p.His1297Gln) | |
| 10 | g.104034210G= | CA1933418370 | COL17A1 | c.3645C= (p.His1215=) c.3891C= (p.His1297=) | |
| 10 | g.104034210G>T | CA378065549 | COL17A1 | c.3645C>A (p.His1215Gln) c.3891C>A (p.His1297Gln) | |
| 10 | g.104034211T>A | CA378065551 | COL17A1 | c.3644A>T (p.His1215Leu) c.3890A>T (p.His1297Leu) | |
| 10 | g.104034211T>C | CA378065553 | COL17A1 | c.3644A>G (p.His1215Arg) c.3890A>G (p.His1297Arg) | |
| 10 | g.104034211T>G | CA378065554 | COL17A1 | c.3644A>C (p.His1215Pro) c.3890A>C (p.His1297Pro) | |
| 10 | g.104034212G>A | CA378065558 | COL17A1 | c.3643C>T (p.His1215Tyr) c.3889C>T (p.His1297Tyr) | gnomAD v4 |
| 10 | g.104034212G>C | CA378065556 | COL17A1 | c.3643C>G (p.His1215Asp) c.3889C>G (p.His1297Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034212G= | CA1933418374 | COL17A1 | c.3643C= (p.His1215=) c.3889C= (p.His1297=) | |
| 10 | g.104034212G>T | CA378065557 | COL17A1 | c.3643C>A (p.His1215Asn) c.3889C>A (p.His1297Asn) | |
| 10 | g.104034213T>A | CA471503037 | COL17A1 | c.3642A>T (p.Ser1214=) c.3888A>T (p.Ser1296=) | |
| 10 | g.104034213T>C | CA471503039 | COL17A1 | c.3642A>G (p.Ser1214=) c.3888A>G (p.Ser1296=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034213T>G | CA471503038 | COL17A1 | c.3642A>C (p.Ser1214=) c.3888A>C (p.Ser1296=) | |
| 10 | g.104034213T= | CA1933418377 | COL17A1 | c.3642A= (p.Ser1214=) c.3888A= (p.Ser1296=) | |
| 10 | g.104034214G>A | CA5677768 | COL17A1 | c.3641C>T (p.Ser1214Leu) c.3887C>T (p.Ser1296Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034214G>C | CA378065560 | COL17A1 | c.3641C>G (p.Ser1214Ter) c.3887C>G (p.Ser1296Ter) | |
| 10 | g.104034214G= | CA1933418380 | COL17A1 | c.3641C= (p.Ser1214=) c.3887C= (p.Ser1296=) | |
| 10 | g.104034214G>T | CA378065562 | COL17A1 | c.3641C>A (p.Ser1214Ter) c.3887C>A (p.Ser1296Ter) | |
| 10 | g.104034215A>C | CA378065564 | COL17A1 | c.3640T>G (p.Ser1214Ala) c.3886T>G (p.Ser1296Ala) | |
| 10 | g.104034215A>G | CA378065565 | COL17A1 | c.3640T>C (p.Ser1214Pro) c.3886T>C (p.Ser1296Pro) | |
| 10 | g.104034215A>T | CA378065566 | COL17A1 | c.3640T>A (p.Ser1214Thr) c.3886T>A (p.Ser1296Thr) | |
| 10 | g.104034216G>A | CA471503042 | COL17A1 | c.3639C>T (p.Ser1213=) c.3885C>T (p.Ser1295=) | ClinVar gnomAD v4 |
| 10 | g.104034216G>C | CA471503044 | COL17A1 | c.3639C>G (p.Ser1213=) c.3885C>G (p.Ser1295=) | ClinVar |
| 10 | g.104034216G>T | CA471503045 | COL17A1 | c.3639C>A (p.Ser1213=) c.3885C>A (p.Ser1295=) | |
| 10 | g.104034217G>A | CA378065567 | COL17A1 | c.3638C>T (p.Ser1213Phe) c.3884C>T (p.Ser1295Phe) | |
| 10 | g.104034217G>C | CA378065568 | COL17A1 | c.3638C>G (p.Ser1213Cys) c.3884C>G (p.Ser1295Cys) | |
| 10 | g.104034217G>T | CA378065569 | COL17A1 | c.3638C>A (p.Ser1213Tyr) c.3884C>A (p.Ser1295Tyr) | |
| 10 | g.104034218A>C | CA378065570 | COL17A1 | c.3637T>G (p.Ser1213Ala) c.3883T>G (p.Ser1295Ala) | |
| 10 | g.104034218A>G | CA378065571 | COL17A1 | c.3637T>C (p.Ser1213Pro) c.3883T>C (p.Ser1295Pro) | |
| 10 | g.104034218A>T | CA378065572 | COL17A1 | c.3637T>A (p.Ser1213Thr) c.3883T>A (p.Ser1295Thr) |