Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.104034200_104034204delinsCAGAT | CA1933418346 | COL17A1 | c.3651_3655delinsATCTG (p.Ser1217=) c.3897_3901delinsATCTG (p.Ser1299=) | |
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) |