| 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=) |