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.104034193C>A | CA378065494 | COL17A1 | c.3662G>T (p.Arg1221Leu) c.3908G>T (p.Arg1303Leu) | |
| 10 | g.104034193C= | CA1933418331 | COL17A1 | c.3662G= (p.Arg1221=) c.3908G= (p.Arg1303=) | |
| 10 | g.104034193C>G | CA378065495 | COL17A1 | c.3662G>C (p.Arg1221Pro) c.3908G>C (p.Arg1303Pro) | |
| 10 | g.104034193C>T | CA127324 | COL17A1 | c.3662G>A (p.Arg1221Gln) c.3908G>A (p.Arg1303Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034194G>A | CA5677765 | COL17A1 | c.3661C>T (p.Arg1221Trp) c.3907C>T (p.Arg1303Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104034194G>C | CA378065499 | COL17A1 | c.3661C>G (p.Arg1221Gly) c.3907C>G (p.Arg1303Gly) | |
| 10 | g.104034194G= | CA1933418334 | COL17A1 | c.3661C= (p.Arg1221=) c.3907C= (p.Arg1303=) | |
| 10 | g.104034194G>T | CA471503000 | COL17A1 | c.3661C>A (p.Arg1221=) c.3907C>A (p.Arg1303=) | ClinVar gnomAD v4 |
| 10 | g.104034195C>A | CA378065500 | COL17A1 | c.3660G>T (p.Arg1220Ser) c.3906G>T (p.Arg1302Ser) | gnomAD v4 |
| 10 | g.104034195C>G | CA378065501 | COL17A1 | c.3660G>C (p.Arg1220Ser) c.3906G>C (p.Arg1302Ser) | |
| 10 | g.104034195C>T | CA471503003 | COL17A1 | c.3660G>A (p.Arg1220=) c.3906G>A (p.Arg1302=) | |
| 10 | g.104034196C>A | CA378065503 | COL17A1 | c.3659G>T (p.Arg1220Met) c.3905G>T (p.Arg1302Met) | gnomAD v4 |
| 10 | g.104034196C= | CA1933418338 | COL17A1 | c.3659G= (p.Arg1220=) c.3905G= (p.Arg1302=) | |
| 10 | g.104034196C>G | CA378065504 | COL17A1 | c.3659G>C (p.Arg1220Thr) c.3905G>C (p.Arg1302Thr) | gnomAD v4 |
| 10 | g.104034196C>T | CA378065506 | COL17A1 | c.3659G>A (p.Arg1220Lys) c.3905G>A (p.Arg1302Lys) | dbSNP gnomAD v4 |
| 10 | g.104034197T>A | CA378065508 | COL17A1 | c.3658A>T (p.Arg1220Trp) c.3904A>T (p.Arg1302Trp) | |
| 10 | g.104034197T>C | CA378065509 | COL17A1 | c.3658A>G (p.Arg1220Gly) c.3904A>G (p.Arg1302Gly) | |
| 10 | g.104034197T>G | CA471503008 | COL17A1 | c.3658A>C (p.Arg1220=) c.3904A>C (p.Arg1302=) | |
| 10 | g.104034198G>A | CA471503009 | COL17A1 | c.3657C>T (p.Val1219=) c.3903C>T (p.Val1301=) | |
| 10 | g.104034198G>C | CA471503010 | COL17A1 | c.3657C>G (p.Val1219=) c.3903C>G (p.Val1301=) | |
| 10 | g.104034198G>T | CA471503011 | COL17A1 | c.3657C>A (p.Val1219=) c.3903C>A (p.Val1301=) | gnomAD v4 |
| 10 | g.104034199A= | CA1933418343 | COL17A1 | c.3656T= (p.Val1219=) c.3902T= (p.Val1301=) | |
| 10 | g.104034199A>C | CA378065511 | COL17A1 | c.3656T>G (p.Val1219Gly) c.3902T>G (p.Val1301Gly) | |
| 10 | g.104034199A>G | CA378065514 | COL17A1 | c.3656T>C (p.Val1219Ala) c.3902T>C (p.Val1301Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034199A>T | CA378065513 | COL17A1 | c.3656T>A (p.Val1219Asp) c.3902T>A (p.Val1301Asp) | |
| 10 | g.104034200C>A | CA378065516 | COL17A1 | c.3655G>T (p.Val1219Phe) c.3901G>T (p.Val1301Phe) | |
| 10 | g.104034200C>G | CA378065517 | COL17A1 | c.3655G>C (p.Val1219Leu) c.3901G>C (p.Val1301Leu) | |
| 10 | g.104034200C>T | CA378065518 | COL17A1 | c.3655G>A (p.Val1219Ile) c.3901G>A (p.Val1301Ile) | gnomAD v4 |
| 10 | g.104034200_104034204delinsCAGAT | CA1933418346 | COL17A1 | c.3651_3655delinsATCTG (p.Ser1217=) c.3897_3901delinsATCTG (p.Ser1299=) | |
| 10 | g.104034201A= | CA1933418348 | COL17A1 | c.3654T= (p.Ser1218=) c.3900T= (p.Ser1300=) | |
| 10 | g.104034201A>C | CA471503013 | COL17A1 | c.3654T>G (p.Ser1218=) c.3900T>G (p.Ser1300=) | |
| 10 | g.104034201A>G | CA471503014 | COL17A1 | c.3654T>C (p.Ser1218=) c.3900T>C (p.Ser1300=) | |
| 10 | g.104034201A>T | CA471503015 | COL17A1 | c.3654T>A (p.Ser1218=) c.3900T>A (p.Ser1300=) | |
| 10 | g.104034202_104034203del | CA2573145528 | COL17A1 | c.3653_3654del (p.Ser1218CysfsTer29) c.3899_3900del (p.Ser1300CysfsTer29) | ClinVar dbSNP gnomAD v4 |
| 10 | g.104034201_104034204del | CA596111107 | COL17A1 | c.3651_3654del (p.Val1219GlyfsTer10) c.3897_3900del (p.Val1301GlyfsTer10) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034202G>A | CA5677766 | COL17A1 | c.3653C>T (p.Ser1218Phe) c.3899C>T (p.Ser1300Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034202G>C | CA378065521 | COL17A1 | c.3653C>G (p.Ser1218Cys) c.3899C>G (p.Ser1300Cys) | |
| 10 | g.104034202G= | CA1933418354 | COL17A1 | c.3653C= (p.Ser1218=) c.3899C= (p.Ser1300=) | |
| 10 | g.104034202G>T | CA378065522 | COL17A1 | c.3653C>A (p.Ser1218Tyr) c.3899C>A (p.Ser1300Tyr) | |
| 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.104034203A>C | CA378065524 | COL17A1 | c.3652T>G (p.Ser1218Ala) c.3898T>G (p.Ser1300Ala) | |
| 10 | g.104034203A>G | CA378065525 | COL17A1 | c.3652T>C (p.Ser1218Pro) c.3898T>C (p.Ser1300Pro) | |
| 10 | g.104034203A>T | CA378065527 | COL17A1 | c.3652T>A (p.Ser1218Thr) c.3898T>A (p.Ser1300Thr) | |
| 10 | g.104034204T>A | CA471503021 | COL17A1 | c.3651A>T (p.Ser1217=) c.3897A>T (p.Ser1299=) | |
| 10 | g.104034204T>C | CA471503022 | COL17A1 | c.3651A>G (p.Ser1217=) c.3897A>G (p.Ser1299=) | gnomAD v4 |
| 10 | g.104034204T>G | CA471503024 | COL17A1 | c.3651A>C (p.Ser1217=) c.3897A>C (p.Ser1299=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.104034204T= | CA1933418359 | COL17A1 | c.3651A= (p.Ser1217=) c.3897A= (p.Ser1299=) | |
| 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) | |
| 10 | g.104034219G>A | CA471503052 | COL17A1 | c.3636C>T (p.Ser1212=) c.3882C>T (p.Ser1294=) | gnomAD v4 |
| 10 | g.104034219G>C | CA471503053 | COL17A1 | c.3636C>G (p.Ser1212=) c.3882C>G (p.Ser1294=) | |
| 10 | g.104034219G>T | CA471503054 | COL17A1 | c.3636C>A (p.Ser1212=) c.3882C>A (p.Ser1294=) | |
| 10 | g.104034220G>A | CA5677769 | COL17A1 | c.3635C>T (p.Ser1212Phe) c.3881C>T (p.Ser1294Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034220G>C | CA378065574 | COL17A1 | c.3635C>G (p.Ser1212Cys) c.3881C>G (p.Ser1294Cys) | |
| 10 | g.104034220G= | CA1933418382 | COL17A1 | c.3635C= (p.Ser1212=) c.3881C= (p.Ser1294=) | |
| 10 | g.104034220G>T | CA378065573 | COL17A1 | c.3635C>A (p.Ser1212Tyr) c.3881C>A (p.Ser1294Tyr) | |
| 10 | g.104034221A>C | CA378065575 | COL17A1 | c.3634T>G (p.Ser1212Ala) c.3880T>G (p.Ser1294Ala) | |
| 10 | g.104034221A>G | CA378065577 | COL17A1 | c.3634T>C (p.Ser1212Pro) c.3880T>C (p.Ser1294Pro) | |
| 10 | g.104034221A>T | CA378065576 | COL17A1 | c.3634T>A (p.Ser1212Thr) c.3880T>A (p.Ser1294Thr) | |
| 10 | g.104034222G>A | CA471503060 | COL17A1 | c.3633C>T (p.Ser1211=) c.3879C>T (p.Ser1293=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034222G>C | CA5677770 | COL17A1 | c.3633C>G (p.Ser1211Arg) c.3879C>G (p.Ser1293Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034222G= | CA1933418387 | COL17A1 | c.3633C= (p.Ser1211=) c.3879C= (p.Ser1293=) | |
| 10 | g.104034222G>T | CA378065578 | COL17A1 | c.3633C>A (p.Ser1211Arg) c.3879C>A (p.Ser1293Arg) | |
| 10 | g.104034223C>A | CA378065579 | COL17A1 | c.3632G>T (p.Ser1211Ile) c.3878G>T (p.Ser1293Ile) | |
| 10 | g.104034223C>G | CA378065580 | COL17A1 | c.3632G>C (p.Ser1211Thr) c.3878G>C (p.Ser1293Thr) | |
| 10 | g.104034223C>T | CA378065581 | COL17A1 | c.3632G>A (p.Ser1211Asn) c.3878G>A (p.Ser1293Asn) | |
| 10 | g.104034224T>A | CA378065582 | COL17A1 | c.3631A>T (p.Ser1211Cys) c.3877A>T (p.Ser1293Cys) | |
| 10 | g.104034224T>C | CA378065583 | COL17A1 | c.3631A>G (p.Ser1211Gly) c.3877A>G (p.Ser1293Gly) | |
| 10 | g.104034224T>G | CA378065584 | COL17A1 | c.3631A>C (p.Ser1211Arg) c.3877A>C (p.Ser1293Arg) | |
| 10 | g.104034225G>A | CA471503065 | COL17A1 | c.3630C>T (p.Ser1210=) c.3876C>T (p.Ser1292=) | gnomAD v4 |
| 10 | g.104034225G>C | CA378065586 | COL17A1 | c.3630C>G (p.Ser1210Arg) c.3876C>G (p.Ser1292Arg) | |
| 10 | g.104034225G>T | CA378065588 | COL17A1 | c.3630C>A (p.Ser1210Arg) c.3876C>A (p.Ser1292Arg) | |
| 10 | g.104034226C>A | CA378065589 | COL17A1 | c.3629G>T (p.Ser1210Ile) c.3875G>T (p.Ser1292Ile) | |
| 10 | g.104034226C>G | CA378065591 | COL17A1 | c.3629G>C (p.Ser1210Thr) c.3875G>C (p.Ser1292Thr) | |
| 10 | g.104034226C>T | CA378065593 | COL17A1 | c.3629G>A (p.Ser1210Asn) c.3875G>A (p.Ser1292Asn) | |
| 10 | g.104034227T>A | CA378065594 | COL17A1 | c.3628A>T (p.Ser1210Cys) c.3874A>T (p.Ser1292Cys) | |
| 10 | g.104034227T>C | CA378065597 | COL17A1 | c.3628A>G (p.Ser1210Gly) c.3874A>G (p.Ser1292Gly) | gnomAD v4 |
| 10 | g.104034227T>G | CA378065596 | COL17A1 | c.3628A>C (p.Ser1210Arg) c.3874A>C (p.Ser1292Arg) | |
| 10 | g.104034228A= | CA1933418389 | COL17A1 | c.3627T= (p.Gly1209=) c.3873T= (p.Gly1291=) | |
| 10 | g.104034228A>C | CA471503073 | COL17A1 | c.3627T>G (p.Gly1209=) c.3873T>G (p.Gly1291=) | |
| 10 | g.104034228A>G | CA5677771 | COL17A1 | c.3627T>C (p.Gly1209=) c.3873T>C (p.Gly1291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.104034228A>T | CA471503075 | COL17A1 | c.3627T>A (p.Gly1209=) c.3873T>A (p.Gly1291=) | |
| 10 | g.104034229C>A | CA378065599 | COL17A1 | c.3626G>T (p.Gly1209Val) c.3872G>T (p.Gly1291Val) | dbSNP |
| 10 | g.104034229C= | CA1933418393 | COL17A1 | c.3626G= (p.Gly1209=) c.3872G= (p.Gly1291=) | |
| 10 | g.104034229C>G | CA378065600 | COL17A1 | c.3626G>C (p.Gly1209Ala) c.3872G>C (p.Gly1291Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034229C>T | CA5677772 | COL17A1 | c.3626G>A (p.Gly1209Asp) c.3872G>A (p.Gly1291Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034230C>A | CA378065602 | COL17A1 | c.3625G>T (p.Gly1209Cys) c.3871G>T (p.Gly1291Cys) | COSMIC |
| 10 | g.104034230C= | CA1933418396 | COL17A1 | c.3625G= (p.Gly1209=) c.3871G= (p.Gly1291=) | |
| 10 | g.104034230C>G | CA378065603 | COL17A1 | c.3625G>C (p.Gly1209Arg) c.3871G>C (p.Gly1291Arg) | |
| 10 | g.104034230C>T | CA378065604 | COL17A1 | c.3625G>A (p.Gly1209Ser) c.3871G>A (p.Gly1291Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034231C>A | CA471503078 | COL17A1 | c.3624G>T (p.Arg1208=) c.3870G>T (p.Arg1290=) | |
| 10 | g.104034231C= | CA1933418402 | COL17A1 | c.3624G= (p.Arg1208=) c.3870G= (p.Arg1290=) | |
| 10 | g.104034231C>G | CA471503079 | COL17A1 | c.3624G>C (p.Arg1208=) c.3870G>C (p.Arg1290=) | |
| 10 | g.104034231C>T | CA471503080 | COL17A1 | c.3624G>A (p.Arg1208=) c.3870G>A (p.Arg1290=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034232C>A | CA378065606 | COL17A1 | c.3623G>T (p.Arg1208Leu) c.3869G>T (p.Arg1290Leu) | |
| 10 | g.104034232C= | CA1933418404 | COL17A1 | c.3623G= (p.Arg1208=) c.3869G= (p.Arg1290=) | |
| 10 | g.104034232C>G | CA378065607 | COL17A1 | c.3623G>C (p.Arg1208Pro) c.3869G>C (p.Arg1290Pro) | |
| 10 | g.104034232C>T | CA5677773 | COL17A1 | c.3623G>A (p.Arg1208Gln) c.3869G>A (p.Arg1290Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034233G>A | CA5677774 | COL17A1 | c.3622C>T (p.Arg1208Trp) c.3868C>T (p.Arg1290Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034233G>C | CA378065609 | COL17A1 | c.3622C>G (p.Arg1208Gly) c.3868C>G (p.Arg1290Gly) | |
| 10 | g.104034233G= | CA1933418407 | COL17A1 | c.3622C= (p.Arg1208=) c.3868C= (p.Arg1290=) | |
| 10 | g.104034233G>T | CA471503086 | COL17A1 | c.3622C>A (p.Arg1208=) c.3868C>A (p.Arg1290=) | gnomAD v4 |
| 10 | g.104034234A= | CA1933418410 | COL17A1 | c.3621T= (p.Ser1207=) c.3867T= (p.Ser1289=) | |
| 10 | g.104034234A>C | CA378065610 | COL17A1 | c.3621T>G (p.Ser1207Arg) c.3867T>G (p.Ser1289Arg) | gnomAD v4 |
| 10 | g.104034234A>G | CA471503090 | COL17A1 | c.3621T>C (p.Ser1207=) c.3867T>C (p.Ser1289=) | dbSNP |
| 10 | g.104034234A>T | CA378065612 | COL17A1 | c.3621T>A (p.Ser1207Arg) c.3867T>A (p.Ser1289Arg) | |
| 10 | g.104034235C>A | CA378065613 | COL17A1 | c.3620G>T (p.Ser1207Ile) c.3866G>T (p.Ser1289Ile) | gnomAD v4 |
| 10 | g.104034235C= | CA1933418413 | COL17A1 | c.3620G= (p.Ser1207=) c.3866G= (p.Ser1289=) | |
| 10 | g.104034235C>G | CA378065614 | COL17A1 | c.3620G>C (p.Ser1207Thr) c.3866G>C (p.Ser1289Thr) | |
| 10 | g.104034235C>T | CA5677775 | COL17A1 | c.3620G>A (p.Ser1207Asn) c.3866G>A (p.Ser1289Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034236T>A | CA378065618 | COL17A1 | c.3619A>T (p.Ser1207Cys) c.3865A>T (p.Ser1289Cys) | |
| 10 | g.104034236T>C | CA5677777 | COL17A1 | c.3619A>G (p.Ser1207Gly) c.3865A>G (p.Ser1289Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034236T>G | CA378065619 | COL17A1 | c.3619A>C (p.Ser1207Arg) c.3865A>C (p.Ser1289Arg) | gnomAD v4 |
| 10 | g.104034236T= | CA1933418420 | COL17A1 | c.3619A= (p.Ser1207=) c.3865A= (p.Ser1289=) | |
| 10 | g.104034236dup | CA5677776 | COL17A1 | c.3619dup (p.Ser1207LysfsTer4) c.3865dup (p.Ser1289LysfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034237G>A | CA471503099 | COL17A1 | c.3618C>T (p.His1206=) c.3864C>T (p.His1288=) | gnomAD v4 |
| 10 | g.104034237G>C | CA5677778 | COL17A1 | c.3618C>G (p.His1206Gln) c.3864C>G (p.His1288Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034237G= | CA1933418423 | COL17A1 | c.3618C= (p.His1206=) c.3864C= (p.His1288=) | |
| 10 | g.104034237G>T | CA378065620 | COL17A1 | c.3618C>A (p.His1206Gln) c.3864C>A (p.His1288Gln) | |
| 10 | g.104034238T>A | CA378065625 | COL17A1 | c.3617A>T (p.His1206Leu) c.3863A>T (p.His1288Leu) | |
| 10 | g.104034238T>C | CA378065624 | COL17A1 | c.3617A>G (p.His1206Arg) c.3863A>G (p.His1288Arg) | |
| 10 | g.104034238T>G | CA378065622 | COL17A1 | c.3617A>C (p.His1206Pro) c.3863A>C (p.His1288Pro) | |
| 10 | g.104034239G>A | CA378065627 | COL17A1 | c.3616C>T (p.His1206Tyr) c.3862C>T (p.His1288Tyr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.104034239G>C | CA378065628 | COL17A1 | c.3616C>G (p.His1206Asp) c.3862C>G (p.His1288Asp) | |
| 10 | g.104034239G= | CA1933418426 | COL17A1 | c.3616C= (p.His1206=) c.3862C= (p.His1288=) | |
| 10 | g.104034239G>T | CA378065629 | COL17A1 | c.3616C>A (p.His1206Asn) c.3862C>A (p.His1288Asn) | gnomAD v4 |
| 10 | g.104034240G>A | CA471503109 | COL17A1 | c.3615C>T (p.Ser1205=) c.3861C>T (p.Ser1287=) | |
| 10 | g.104034240G>C | CA471503110 | COL17A1 | c.3615C>G (p.Ser1205=) c.3861C>G (p.Ser1287=) | |
| 10 | g.104034240G>T | CA471503111 | COL17A1 | c.3615C>A (p.Ser1205=) c.3861C>A (p.Ser1287=) | gnomAD v4 |
| 10 | g.104034241G>A | CA5677779 | COL17A1 | c.3614C>T (p.Ser1205Phe) c.3860C>T (p.Ser1287Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034241G>C | CA212450183 | COL17A1 | c.3614C>G (p.Ser1205Cys) c.3860C>G (p.Ser1287Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034241G= | CA1933418430 | COL17A1 | c.3614C= (p.Ser1205=) c.3860C= (p.Ser1287=) | |
| 10 | g.104034241G>T | CA378065632 | COL17A1 | c.3614C>A (p.Ser1205Tyr) c.3860C>A (p.Ser1287Tyr) | |
| 10 | g.104034242A>C | CA378065633 | COL17A1 | c.3613T>G (p.Ser1205Ala) c.3859T>G (p.Ser1287Ala) | |
| 10 | g.104034242A>G | CA378065635 | COL17A1 | c.3613T>C (p.Ser1205Pro) c.3859T>C (p.Ser1287Pro) | |
| 10 | g.104034242A>T | CA378065636 | COL17A1 | c.3613T>A (p.Ser1205Thr) c.3859T>A (p.Ser1287Thr) | |
| 10 | g.104034243G>A | CA471503117 | COL17A1 | c.3612C>T (p.Ala1204=) c.3858C>T (p.Ala1286=) | ClinVar gnomAD v4 |
| 10 | g.104034243G>C | CA471503118 | COL17A1 | c.3612C>G (p.Ala1204=) c.3858C>G (p.Ala1286=) | |
| 10 | g.104034243G>T | CA471503119 | COL17A1 | c.3612C>A (p.Ala1204=) c.3858C>A (p.Ala1286=) | gnomAD v4 |
| 10 | g.104034244G>A | CA5677780 | COL17A1 | c.3611C>T (p.Ala1204Val) c.3857C>T (p.Ala1286Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034244G>C | CA378065639 | COL17A1 | c.3611C>G (p.Ala1204Gly) c.3857C>G (p.Ala1286Gly) | gnomAD v4 |
| 10 | g.104034244G= | CA1933418434 | COL17A1 | c.3611C= (p.Ala1204=) c.3857C= (p.Ala1286=) | |
| 10 | g.104034244G>T | CA378065640 | COL17A1 | c.3611C>A (p.Ala1204Asp) c.3857C>A (p.Ala1286Asp) | dbSNP gnomAD v2 |
| 10 | g.104034245C>A | CA378065645 | COL17A1 | c.3610G>T (p.Ala1204Ser) c.3856G>T (p.Ala1286Ser) | dbSNP |
| 10 | g.104034245C= | CA1933418439 | COL17A1 | c.3610G= (p.Ala1204=) c.3856G= (p.Ala1286=) | |
| 10 | g.104034245C>G | CA378065643 | COL17A1 | c.3610G>C (p.Ala1204Pro) c.3856G>C (p.Ala1286Pro) | |
| 10 | g.104034245C>T | CA378065641 | COL17A1 | c.3610G>A (p.Ala1204Thr) c.3856G>A (p.Ala1286Thr) | gnomAD v4 |
| 10 | g.104034246A>C | CA378065646 | COL17A1 | c.3609T>G (p.Asp1203Glu) c.3855T>G (p.Asp1285Glu) | |
| 10 | g.104034246A>G | CA471503132 | COL17A1 | c.3609T>C (p.Asp1203=) c.3855T>C (p.Asp1285=) | gnomAD v4 |
| 10 | g.104034246A>T | CA378065648 | COL17A1 | c.3609T>A (p.Asp1203Glu) c.3855T>A (p.Asp1285Glu) | |
| 10 | g.104034247T>A | CA378065649 | COL17A1 | c.3608A>T (p.Asp1203Val) c.3854A>T (p.Asp1285Val) | |
| 10 | g.104034247T>C | CA378065650 | COL17A1 | c.3608A>G (p.Asp1203Gly) c.3854A>G (p.Asp1285Gly) | gnomAD v4 |
| 10 | g.104034247T>G | CA378065652 | COL17A1 | c.3608A>C (p.Asp1203Ala) c.3854A>C (p.Asp1285Ala) | |
| 10 | g.104034247T= | CA1933418444 | COL17A1 | c.3608A= (p.Asp1203=) c.3854A= (p.Asp1285=) | |
| 10 | g.104034248C>A | CA378065654 | COL17A1 | c.3607G>T (p.Asp1203Tyr) c.3853G>T (p.Asp1285Tyr) | |
| 10 | g.104034248C= | CA1933418447 | COL17A1 | c.3607G= (p.Asp1203=) c.3853G= (p.Asp1285=) | |
| 10 | g.104034248C>G | CA378065656 | COL17A1 | c.3607G>C (p.Asp1203His) c.3853G>C (p.Asp1285His) | |
| 10 | g.104034248C>T | CA5677781 | COL17A1 | c.3607G>A (p.Asp1203Asn) c.3853G>A (p.Asp1285Asn) | dbSNP ExAC gnomAD v2 |
| 10 | g.104034251_104034252insCCCGT | CA1933418446 | COL17A1 | c.3607_3608insGACGG (p.Asp1203GlyfsTer29) c.3853_3854insGACGG (p.Asp1285GlyfsTer29) | dbSNP |
| 10 | g.104034249C>A | CA5677782 | COL17A1 | c.3606G>T (p.Thr1202=) c.3852G>T (p.Thr1284=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034249C= | CA1933418450 | COL17A1 | c.3606G= (p.Thr1202=) c.3852G= (p.Thr1284=) | |
| 10 | g.104034249C>G | CA471503138 | COL17A1 | c.3606G>C (p.Thr1202=) c.3852G>C (p.Thr1284=) | |
| 10 | g.104034249C>T | CA5677783 | COL17A1 | c.3606G>A (p.Thr1202=) c.3852G>A (p.Thr1284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034250G>A | CA5677784 | COL17A1 | c.3605C>T (p.Thr1202Met) c.3851C>T (p.Thr1284Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034250G>C | CA378065661 | COL17A1 | c.3605C>G (p.Thr1202Arg) c.3851C>G (p.Thr1284Arg) | |
| 10 | g.104034250G= | CA1933418452 | COL17A1 | c.3605C= (p.Thr1202=) c.3851C= (p.Thr1284=) | |
| 10 | g.104034250G>T | CA378065659 | COL17A1 | c.3605C>A (p.Thr1202Lys) c.3851C>A (p.Thr1284Lys) | |
| 10 | g.104034251T>A | CA378065662 | COL17A1 | c.3604A>T (p.Thr1202Ser) c.3850A>T (p.Thr1284Ser) | |
| 10 | g.104034251T>C | CA378065663 | COL17A1 | c.3604A>G (p.Thr1202Ala) c.3850A>G (p.Thr1284Ala) | dbSNP |
| 10 | g.104034251T>G | CA378065665 | COL17A1 | c.3604A>C (p.Thr1202Pro) c.3850A>C (p.Thr1284Pro) | |
| 10 | g.104034252G>A | CA5677785 | COL17A1 | c.3603C>T (p.Ser1201=) c.3849C>T (p.Ser1283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034252G>C | CA471503142 | COL17A1 | c.3603C>G (p.Ser1201=) c.3849C>G (p.Ser1283=) | |
| 10 | g.104034252G= | CA1933418455 | COL17A1 | c.3603C= (p.Ser1201=) c.3849C= (p.Ser1283=) | |
| 10 | g.104034252G>T | CA471503145 | COL17A1 | c.3603C>A (p.Ser1201=) c.3849C>A (p.Ser1283=) | |
| 10 | g.104034253G>A | CA5677786 | COL17A1 | c.3602C>T (p.Ser1201Phe) c.3848C>T (p.Ser1283Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034253G>C | CA5677787 | COL17A1 | c.3602C>G (p.Ser1201Cys) c.3848C>G (p.Ser1283Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034253G= | CA1933418459 | COL17A1 | c.3602C= (p.Ser1201=) c.3848C= (p.Ser1283=) | |
| 10 | g.104034253G>T | CA378065668 | COL17A1 | c.3602C>A (p.Ser1201Tyr) c.3848C>A (p.Ser1283Tyr) | gnomAD v4 |
| 10 | g.104034254A>C | CA378065670 | COL17A1 | c.3601T>G (p.Ser1201Ala) c.3847T>G (p.Ser1283Ala) | |
| 10 | g.104034254A>G | CA378065672 | COL17A1 | c.3601T>C (p.Ser1201Pro) c.3847T>C (p.Ser1283Pro) | |
| 10 | g.104034254A>T | CA378065674 | COL17A1 | c.3601T>A (p.Ser1201Thr) c.3847T>A (p.Ser1283Thr) | |
| 10 | g.104034255C>A | CA471503159 | COL17A1 | c.3600G>T (p.Leu1200=) c.3846G>T (p.Leu1282=) | |
| 10 | g.104034255C= | CA1933418462 | COL17A1 | c.3600G= (p.Leu1200=) c.3846G= (p.Leu1282=) | |
| 10 | g.104034255C>G | CA471503161 | COL17A1 | c.3600G>C (p.Leu1200=) c.3846G>C (p.Leu1282=) | |
| 10 | g.104034255C>T | CA471503160 | COL17A1 | c.3600G>A (p.Leu1200=) c.3846G>A (p.Leu1282=) | dbSNP gnomAD v4 |
| 10 | g.104034256A>C | CA378065675 | COL17A1 | c.3599T>G (p.Leu1200Arg) c.3845T>G (p.Leu1282Arg) | |
| 10 | g.104034256A>G | CA378065677 | COL17A1 | c.3599T>C (p.Leu1200Pro) c.3845T>C (p.Leu1282Pro) | |
| 10 | g.104034256A>T | CA378065678 | COL17A1 | c.3599T>A (p.Leu1200Gln) c.3845T>A (p.Leu1282Gln) | |
| 10 | g.104034257G>A | CA471503165 | COL17A1 | c.3598C>T (p.Leu1200=) c.3844C>T (p.Leu1282=) | |
| 10 | g.104034257G>C | CA378065680 | COL17A1 | c.3598C>G (p.Leu1200Val) c.3844C>G (p.Leu1282Val) | |
| 10 | g.104034257G>T | CA378065681 | COL17A1 | c.3598C>A (p.Leu1200Met) c.3844C>A (p.Leu1282Met) | |
| 10 | g.104034258G>A | CA471503167 | COL17A1 | c.3597C>T (p.Leu1199=) c.3843C>T (p.Leu1281=) | gnomAD v4 |
| 10 | g.104034258G>C | CA471503168 | COL17A1 | c.3597C>G (p.Leu1199=) c.3843C>G (p.Leu1281=) | dbSNP |
| 10 | g.104034258G= | CA1933418464 | COL17A1 | c.3597C= (p.Leu1199=) c.3843C= (p.Leu1281=) | |
| 10 | g.104034258G>T | CA471503170 | COL17A1 | c.3597C>A (p.Leu1199=) c.3843C>A (p.Leu1281=) | |
| 10 | g.104034259A>C | CA378065683 | COL17A1 | c.3596T>G (p.Leu1199Arg) c.3842T>G (p.Leu1281Arg) | |
| 10 | g.104034259A>G | CA378065684 | COL17A1 | c.3596T>C (p.Leu1199Pro) c.3842T>C (p.Leu1281Pro) | |
| 10 | g.104034259A>T | CA378065685 | COL17A1 | c.3596T>A (p.Leu1199His) c.3842T>A (p.Leu1281His) | |
| 10 | g.104034260G>A | CA378065687 | COL17A1 | c.3595C>T (p.Leu1199Phe) c.3841C>T (p.Leu1281Phe) | |
| 10 | g.104034260G>C | CA378065689 | COL17A1 | c.3595C>G (p.Leu1199Val) c.3841C>G (p.Leu1281Val) | dbSNP |
| 10 | g.104034260G= | CA1933418467 | COL17A1 | c.3595C= (p.Leu1199=) c.3841C= (p.Leu1281=) | |
| 10 | g.104034260G>T | CA378065688 | COL17A1 | c.3595C>A (p.Leu1199Ile) c.3841C>A (p.Leu1281Ile) | |
| 10 | g.104034261G>A | CA5677788 | COL17A1 | c.3594C>T (p.Arg1198=) c.3840C>T (p.Arg1280=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034261G>C | CA471503178 | COL17A1 | c.3594C>G (p.Arg1198=) c.3840C>G (p.Arg1280=) | ClinVar |
| 10 | g.104034261G= | CA1933418470 | COL17A1 | c.3594C= (p.Arg1198=) c.3840C= (p.Arg1280=) | |
| 10 | g.104034261G>T | CA471503179 | COL17A1 | c.3594C>A (p.Arg1198=) c.3840C>A (p.Arg1280=) | |
| 10 | g.104034262C>A | CA378065692 | COL17A1 | c.3593G>T (p.Arg1198Leu) c.3839G>T (p.Arg1280Leu) | gnomAD v4 |
| 10 | g.104034262C= | CA1933418472 | COL17A1 | c.3593G= (p.Arg1198=) c.3839G= (p.Arg1280=) | |
| 10 | g.104034262C>G | CA378065693 | COL17A1 | c.3593G>C (p.Arg1198Pro) c.3839G>C (p.Arg1280Pro) | |
| 10 | g.104034262C>T | CA5677789 | COL17A1 | c.3593G>A (p.Arg1198His) c.3839G>A (p.Arg1280His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104034263G>A | CA378065695 | COL17A1 | c.3592C>T (p.Arg1198Cys) c.3838C>T (p.Arg1280Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034263G>C | CA378065696 | COL17A1 | c.3592C>G (p.Arg1198Gly) c.3838C>G (p.Arg1280Gly) | |
| 10 | g.104034263G= | CA1933418478 | COL17A1 | c.3592C= (p.Arg1198=) c.3838C= (p.Arg1280=) | |
| 10 | g.104034263G>T | CA378065697 | COL17A1 | c.3592C>A (p.Arg1198Ser) c.3838C>A (p.Arg1280Ser) | gnomAD v4 |
| 10 | g.104034264G>A | CA471503186 | COL17A1 | c.3591C>T (p.Ser1197=) c.3837C>T (p.Ser1279=) | gnomAD v3 gnomAD v4 |
| 10 | g.104034264G>C | CA378065698 | COL17A1 | c.3591C>G (p.Ser1197Arg) c.3837C>G (p.Ser1279Arg) | |
| 10 | g.104034264G= | CA1933418481 | COL17A1 | c.3591C= (p.Ser1197=) c.3837C= (p.Ser1279=) | |
| 10 | g.104034264G>T | CA378065700 | COL17A1 | c.3591C>A (p.Ser1197Arg) c.3837C>A (p.Ser1279Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034265C>A | CA378065701 | COL17A1 | c.3590G>T (p.Ser1197Ile) c.3836G>T (p.Ser1279Ile) | |
| 10 | g.104034265C>G | CA378065703 | COL17A1 | c.3590G>C (p.Ser1197Thr) c.3836G>C (p.Ser1279Thr) | |
| 10 | g.104034265C>T | CA378065705 | COL17A1 | c.3590G>A (p.Ser1197Asn) c.3836G>A (p.Ser1279Asn) | gnomAD v4 |
| 10 | g.104034266T>A | CA378065709 | COL17A1 | c.3589A>T (p.Ser1197Cys) c.3835A>T (p.Ser1279Cys) | |
| 10 | g.104034266T>C | CA378065706 | COL17A1 | c.3589A>G (p.Ser1197Gly) c.3835A>G (p.Ser1279Gly) | gnomAD v4 |
| 10 | g.104034266T>G | CA378065707 | COL17A1 | c.3589A>C (p.Ser1197Arg) c.3835A>C (p.Ser1279Arg) | |
| 10 | g.104034267G>A | CA471503190 | COL17A1 | c.3588C>T (p.Asp1196=) c.3834C>T (p.Asp1278=) | gnomAD v4 |
| 10 | g.104034267G>C | CA378065711 | COL17A1 | c.3588C>G (p.Asp1196Glu) c.3834C>G (p.Asp1278Glu) | |
| 10 | g.104034267G>T | CA378065713 | COL17A1 | c.3588C>A (p.Asp1196Glu) c.3834C>A (p.Asp1278Glu) | gnomAD v4 |
| 10 | g.104034268T>A | CA378065715 | COL17A1 | c.3587A>T (p.Asp1196Val) c.3833A>T (p.Asp1278Val) | dbSNP |
| 10 | g.104034268T>C | CA378065716 | COL17A1 | c.3587A>G (p.Asp1196Gly) c.3833A>G (p.Asp1278Gly) | |
| 10 | g.104034268T>G | CA378065717 | COL17A1 | c.3587A>C (p.Asp1196Ala) c.3833A>C (p.Asp1278Ala) | |
| 10 | g.104034268T= | CA1933418484 | COL17A1 | c.3587A= (p.Asp1196=) c.3833A= (p.Asp1278=) | |
| 10 | g.104034268_104034270delinsTCC | CA1933418482 | COL17A1 | c.3585_3587delinsGGA (p.Gly1195=) c.3831_3833delinsGGA (p.Gly1277=) | |
| 10 | g.104034269C>A | CA378065719 | COL17A1 | c.3586G>T (p.Asp1196Tyr) c.3832G>T (p.Asp1278Tyr) | |
| 10 | g.104034269C= | CA1933418488 | COL17A1 | c.3586G= (p.Asp1196=) c.3832G= (p.Asp1278=) | |
| 10 | g.104034269C>G | CA378065720 | COL17A1 | c.3586G>C (p.Asp1196His) c.3832G>C (p.Asp1278His) | |
| 10 | g.104034269C>T | CA378065721 | COL17A1 | c.3586G>A (p.Asp1196Asn) c.3832G>A (p.Asp1278Asn) | ClinVar dbSNP gnomAD v4 |
| 10 | g.104034272del | CA2610796362 | COL17A1 | c.3586del (p.Asp1196ThrfsTer?) c.3832del (p.Asp1278ThrfsTer?) | gnomAD v4 |
| 10 | g.104034271_104034272del | CA918751059 | COL17A1 | c.3585_3586del (p.Asp1196GlnfsTer14) c.3831_3832del (p.Asp1278GlnfsTer14) | dbSNP |
| 10 | g.104034270C>A | CA471503202 | COL17A1 | c.3585G>T (p.Gly1195=) c.3831G>T (p.Gly1277=) | |
| 10 | g.104034270C= | CA1933418492 | COL17A1 | c.3585G= (p.Gly1195=) c.3831G= (p.Gly1277=) | |
| 10 | g.104034270C>G | CA471503203 | COL17A1 | c.3585G>C (p.Gly1195=) c.3831G>C (p.Gly1277=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034270C>T | CA471503204 | COL17A1 | c.3585G>A (p.Gly1195=) c.3831G>A (p.Gly1277=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034271C>A | CA378065723 | COL17A1 | c.3584G>T (p.Gly1195Val) c.3830G>T (p.Gly1277Val) | gnomAD v4 |
| 10 | g.104034271C>G | CA378065724 | COL17A1 | c.3584G>C (p.Gly1195Ala) c.3830G>C (p.Gly1277Ala) | gnomAD v2 gnomAD v4 |
| 10 | g.104034271C>T | CA378065726 | COL17A1 | c.3584G>A (p.Gly1195Glu) c.3830G>A (p.Gly1277Glu) | gnomAD v4 |
| 10 | g.104034271_104034273delinsCCA | CA1933418495 | COL17A1 | c.3582_3584delinsTGG (p.Pro1194=) c.3828_3830delinsTGG (p.Pro1276=) | |
| 10 | g.104034271_104034280delinsCCAGGGGGTC | CA1933418494 | COL17A1 | c.3575_3584delinsGACCCCCTGG (p.Gly1192=) c.3821_3830delinsGACCCCCTGG (p.Gly1274=) | |
| 10 | g.104034272C>A | CA378065730 | COL17A1 | c.3583G>T (p.Gly1195Trp) c.3829G>T (p.Gly1277Trp) | gnomAD v4 |
| 10 | g.104034272C= | CA1933418501 | COL17A1 | c.3583G= (p.Gly1195=) c.3829G= (p.Gly1277=) | |
| 10 | g.104034272C>G | CA378065728 | COL17A1 | c.3583G>C (p.Gly1195Arg) c.3829G>C (p.Gly1277Arg) | |
| 10 | g.104034272C>T | CA5677790 | COL17A1 | c.3583G>A (p.Gly1195Arg) c.3829G>A (p.Gly1277Arg) | dbSNP ExAC |
| 10 | g.104034272_104034273del | CA596111126 | COL17A1 | c.3582_3583del (p.Asp1196GlnfsTer14) c.3828_3829del (p.Asp1278GlnfsTer14) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034272_104034280delinsG | CA658797533 | COL17A1 | c.3575_3583delinsC (p.Gly1192AlafsTer16) c.3821_3829delinsC (p.Gly1274AlafsTer16) | ClinVar dbSNP |
| 10 | g.104034273_104034280del | CA659194261 | COL17A1 | c.3576_3583del (p.Pro1193GlyfsTer15) c.3822_3829del (p.Pro1275GlyfsTer15) | dbSNP |
| 10 | g.104034272_104034273insG | CA1933418503 | COL17A1 | c.3582_3583insC (p.Gly1195ArgfsTer16) c.3828_3829insC (p.Gly1277ArgfsTer16) | ClinVar dbSNP |
| 10 | g.104034273del | CA2610796363 | COL17A1 | c.3582del (p.Asp1196ThrfsTer?) c.3828del (p.Asp1278ThrfsTer?) | gnomAD v4 |
| 10 | g.104034273A= | CA1933418504 | COL17A1 | c.3582T= (p.Pro1194=) c.3828T= (p.Pro1276=) | |
| 10 | g.104034273A>C | CA471503209 | COL17A1 | c.3582T>G (p.Pro1194=) c.3828T>G (p.Pro1276=) | |
| 10 | g.104034273A>G | CA471503210 | COL17A1 | c.3582T>C (p.Pro1194=) c.3828T>C (p.Pro1276=) | dbSNP |
| 10 | g.104034273A>T | CA471503211 | COL17A1 | c.3582T>A (p.Pro1194=) c.3828T>A (p.Pro1276=) | |
| 10 | g.104034274G>A | CA5677792 | COL17A1 | c.3581C>T (p.Pro1194Leu) c.3827C>T (p.Pro1276Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034274G>C | CA5677793 | COL17A1 | c.3581C>G (p.Pro1194Arg) c.3827C>G (p.Pro1276Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034274G= | CA1933418505 | COL17A1 | c.3581C= (p.Pro1194=) c.3827C= (p.Pro1276=) | |
| 10 | g.104034274G>T | CA378065732 | COL17A1 | c.3581C>A (p.Pro1194His) c.3827C>A (p.Pro1276His) | gnomAD v4 |
| 10 | g.104034278dup | CA5677791 | COL17A1 | c.3581dup (p.Gly1195TrpfsTer16) c.3827dup (p.Gly1277TrpfsTer16) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034278del | CA2610796364 | COL17A1 | c.3581del (p.Pro1194LeufsTer?) c.3827del (p.Pro1276LeufsTer?) | gnomAD v4 |
| 10 | g.104034274_104034280delinsGGGGGTC | CA1933418506 | COL17A1 | c.3575_3581delinsGACCCCC (p.Gly1192=) c.3821_3827delinsGACCCCC (p.Gly1274=) | |
| 10 | g.104034275G>A | CA378065735 | COL17A1 | c.3580C>T (p.Pro1194Ser) c.3826C>T (p.Pro1276Ser) | dbSNP |
| 10 | g.104034275G>C | CA378065736 | COL17A1 | c.3580C>G (p.Pro1194Ala) c.3826C>G (p.Pro1276Ala) | gnomAD v4 |
| 10 | g.104034275G= | CA1933418507 | COL17A1 | c.3580C= (p.Pro1194=) c.3826C= (p.Pro1276=) | |
| 10 | g.104034275G>T | CA378065737 | COL17A1 | c.3580C>A (p.Pro1194Thr) c.3826C>A (p.Pro1276Thr) | gnomAD v4 |
| 10 | g.104034275_104034280del | CA596111127 | COL17A1 | c.3575_3580del (p.Gly1192_Pro1194delinsAla) c.3821_3826del (p.Gly1274_Pro1276delinsAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034276G>A | CA471503224 | COL17A1 | c.3579C>T (p.Pro1193=) c.3825C>T (p.Pro1275=) | |
| 10 | g.104034276G>C | CA471503223 | COL17A1 | c.3579C>G (p.Pro1193=) c.3825C>G (p.Pro1275=) | |
| 10 | g.104034276G= | CA1933418508 | COL17A1 | c.3579C= (p.Pro1193=) c.3825C= (p.Pro1275=) | |
| 10 | g.104034276G>T | CA10634863 | COL17A1 | c.3579C>A (p.Pro1193=) c.3825C>A (p.Pro1275=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034277G>A | CA378065740 | COL17A1 | c.3578C>T (p.Pro1193Leu) c.3824C>T (p.Pro1275Leu) | dbSNP gnomAD v4 |
| 10 | g.104034277G>C | CA378065741 | COL17A1 | c.3578C>G (p.Pro1193Arg) c.3824C>G (p.Pro1275Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034277G= | CA1933418509 | COL17A1 | c.3578C= (p.Pro1193=) c.3824C= (p.Pro1275=) | |
| 10 | g.104034277G>T | CA378065742 | COL17A1 | c.3578C>A (p.Pro1193His) c.3824C>A (p.Pro1275His) | ClinVar gnomAD v4 |
| 10 | g.104034278G>A | CA5677794 | COL17A1 | c.3577C>T (p.Pro1193Ser) c.3823C>T (p.Pro1275Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034278G>C | CA378065745 | COL17A1 | c.3577C>G (p.Pro1193Ala) c.3823C>G (p.Pro1275Ala) | |
| 10 | g.104034278G= | CA1933418510 | COL17A1 | c.3577C= (p.Pro1193=) c.3823C= (p.Pro1275=) | |
| 10 | g.104034278G>T | CA378065746 | COL17A1 | c.3577C>A (p.Pro1193Thr) c.3823C>A (p.Pro1275Thr) | dbSNP gnomAD v4 |
| 10 | g.104034279T>A | CA471503230 | COL17A1 | c.3576A>T (p.Gly1192=) c.3822A>T (p.Gly1274=) | gnomAD v4 |
| 10 | g.104034279T>C | CA471503233 | COL17A1 | c.3576A>G (p.Gly1192=) c.3822A>G (p.Gly1274=) | gnomAD v4 |
| 10 | g.104034279T>G | CA471503235 | COL17A1 | c.3576A>C (p.Gly1192=) c.3822A>C (p.Gly1274=) | |
| 10 | g.104034280C>A | CA378065749 | COL17A1 | c.3575G>T (p.Gly1192Val) c.3821G>T (p.Gly1274Val) | |
| 10 | g.104034280C= | CA1933418511 | COL17A1 | c.3575G= (p.Gly1192=) c.3821G= (p.Gly1274=) | |
| 10 | g.104034280C>G | CA378065748 | COL17A1 | c.3575G>C (p.Gly1192Ala) c.3821G>C (p.Gly1274Ala) | dbSNP |
| 10 | g.104034280C>T | CA5677795 | COL17A1 | c.3575G>A (p.Gly1192Glu) c.3821G>A (p.Gly1274Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034281C>A | CA378065751 | COL17A1 | c.3574G>T (p.Gly1192Ter) c.3820G>T (p.Gly1274Ter) | |
| 10 | g.104034281C>G | CA378065753 | COL17A1 | c.3574G>C (p.Gly1192Arg) c.3820G>C (p.Gly1274Arg) | |
| 10 | g.104034281C>T | CA378065754 | COL17A1 | c.3574G>A (p.Gly1192Arg) c.3820G>A (p.Gly1274Arg) | |
| 10 | g.104034282C>A | CA378065756 | COL17A1 | c.3573G>T (p.Gln1191His) c.3819G>T (p.Gln1273His) | |
| 10 | g.104034282C>G | CA378065757 | COL17A1 | c.3573G>C (p.Gln1191His) c.3819G>C (p.Gln1273His) | |
| 10 | g.104034282C>T | CA471503247 | COL17A1 | c.3573G>A (p.Gln1191=) c.3819G>A (p.Gln1273=) | |
| 10 | g.104034283T>A | CA378065758 | COL17A1 | c.3572A>T (p.Gln1191Leu) c.3818A>T (p.Gln1273Leu) | gnomAD v4 |
| 10 | g.104034283T>C | CA378065760 | COL17A1 | c.3572A>G (p.Gln1191Arg) c.3818A>G (p.Gln1273Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034283T>G | CA378065762 | COL17A1 | c.3572A>C (p.Gln1191Pro) c.3818A>C (p.Gln1273Pro) | |
| 10 | g.104034283T= | CA1933418512 | COL17A1 | c.3572A= (p.Gln1191=) c.3818A= (p.Gln1273=) | |
| 10 | g.104034284G>A | CA378065763 | COL17A1 | c.3571C>T (p.Gln1191Ter) c.3817C>T (p.Gln1273Ter) | dbSNP gnomAD v4 |
| 10 | g.104034284G>C | CA5677796 | COL17A1 | c.3571C>G (p.Gln1191Glu) c.3817C>G (p.Gln1273Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034284G= | CA1933418513 | COL17A1 | c.3571C= (p.Gln1191=) c.3817C= (p.Gln1273=) | |
| 10 | g.104034284G>T | CA378065765 | COL17A1 | c.3571C>A (p.Gln1191Lys) c.3817C>A (p.Gln1273Lys) | |
| 10 | g.104034285C>A | CA471503256 | COL17A1 | c.3570G>T (p.Pro1190=) c.3816G>T (p.Pro1272=) | dbSNP gnomAD v4 |
| 10 | g.104034285C= | CA1933418514 | COL17A1 | c.3570G= (p.Pro1190=) c.3816G= (p.Pro1272=) | |
| 10 | g.104034285C>G | CA471503257 | COL17A1 | c.3570G>C (p.Pro1190=) c.3816G>C (p.Pro1272=) | |
| 10 | g.104034285C>T | CA5677797 | COL17A1 | c.3570G>A (p.Pro1190=) c.3816G>A (p.Pro1272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034286G>A | CA5677798 | COL17A1 | c.3569C>T (p.Pro1190Leu) c.3815C>T (p.Pro1272Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034286G>C | CA378065768 | COL17A1 | c.3569C>G (p.Pro1190Arg) c.3815C>G (p.Pro1272Arg) | |
| 10 | g.104034286G= | CA1933418515 | COL17A1 | c.3569C= (p.Pro1190=) c.3815C= (p.Pro1272=) | |
| 10 | g.104034286G>T | CA378065767 | COL17A1 | c.3569C>A (p.Pro1190Gln) c.3815C>A (p.Pro1272Gln) | gnomAD v4 |
| 10 | g.104034287G>A | CA5677799 | COL17A1 | c.3568C>T (p.Pro1190Ser) c.3814C>T (p.Pro1272Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034287G>C | CA378065771 | COL17A1 | c.3568C>G (p.Pro1190Ala) c.3814C>G (p.Pro1272Ala) | dbSNP gnomAD v4 |
| 10 | g.104034287G= | CA1933418516 | COL17A1 | c.3568C= (p.Pro1190=) c.3814C= (p.Pro1272=) | |
| 10 | g.104034287G>T | CA378065772 | COL17A1 | c.3568C>A (p.Pro1190Thr) c.3814C>A (p.Pro1272Thr) | gnomAD v4 |
| 10 | g.104034288C>A | CA471503269 | COL17A1 | c.3567G>T (p.Gly1189=) c.3813G>T (p.Gly1271=) | |
| 10 | g.104034288C= | CA1933418517 | COL17A1 | c.3567G= (p.Gly1189=) c.3813G= (p.Gly1271=) | |
| 10 | g.104034288C>G | CA471503271 | COL17A1 | c.3567G>C (p.Gly1189=) c.3813G>C (p.Gly1271=) | |
| 10 | g.104034288C>T | CA471503274 | COL17A1 | c.3567G>A (p.Gly1189=) c.3813G>A (p.Gly1271=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034289C>A | CA378065773 | COL17A1 | c.3566G>T (p.Gly1189Val) c.3812G>T (p.Gly1271Val) | |
| 10 | g.104034289C>G | CA378065775 | COL17A1 | c.3566G>C (p.Gly1189Ala) c.3812G>C (p.Gly1271Ala) | gnomAD v4 |
| 10 | g.104034289C>T | CA378065776 | COL17A1 | c.3566G>A (p.Gly1189Glu) c.3812G>A (p.Gly1271Glu) | COSMIC |
| 10 | g.104034290C>A | CA378065778 | COL17A1 | c.3565G>T (p.Gly1189Trp) c.3811G>T (p.Gly1271Trp) | |
| 10 | g.104034290C>G | CA378065779 | COL17A1 | c.3565G>C (p.Gly1189Arg) c.3811G>C (p.Gly1271Arg) | |
| 10 | g.104034290C>T | CA378065781 | COL17A1 | c.3565G>A (p.Gly1189Arg) c.3811G>A (p.Gly1271Arg) | |
| 10 | g.104034291A>C | CA471503282 | COL17A1 | c.3564T>G (p.Pro1188=) c.3810T>G (p.Pro1270=) | |
| 10 | g.104034291A>G | CA471503284 | COL17A1 | c.3564T>C (p.Pro1188=) c.3810T>C (p.Pro1270=) | gnomAD v4 |
| 10 | g.104034291A>T | CA471503285 | COL17A1 | c.3564T>A (p.Pro1188=) c.3810T>A (p.Pro1270=) | |
| 10 | g.104034292G>A | CA378065782 | COL17A1 | c.3563C>T (p.Pro1188Leu) c.3809C>T (p.Pro1270Leu) | |
| 10 | g.104034292G>C | CA378065783 | COL17A1 | c.3563C>G (p.Pro1188Arg) c.3809C>G (p.Pro1270Arg) | |
| 10 | g.104034292G>T | CA378065785 | COL17A1 | c.3563C>A (p.Pro1188His) c.3809C>A (p.Pro1270His) | gnomAD v4 |
| 10 | g.104034293G>A | CA378065790 | COL17A1 | c.3562C>T (p.Pro1188Ser) c.3808C>T (p.Pro1270Ser) | gnomAD v4 |
| 10 | g.104034293G>C | CA378065789 | COL17A1 | c.3562C>G (p.Pro1188Ala) c.3808C>G (p.Pro1270Ala) | |
| 10 | g.104034293G>T | CA378065787 | COL17A1 | c.3562C>A (p.Pro1188Thr) c.3808C>A (p.Pro1270Thr) | gnomAD v4 |