| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104057031_104057061del | CA2610800885 | COL17A1 | c.1387_1417del (p.Trp464ProfsTer19) c.1339_1369del (p.Trp448ProfsTer19) | gnomAD v4 |
| 10 | g.104057058C>A | CA378072971 | COL17A1 | c.1382G>T (p.Cys461Phe) c.1334G>T (p.Cys445Phe) | |
| 10 | g.104057058C>G | CA378072972 | COL17A1 | c.1382G>C (p.Cys461Ser) c.1334G>C (p.Cys445Ser) | |
| 10 | g.104057058C>T | CA378072973 | COL17A1 | c.1382G>A (p.Cys461Tyr) c.1334G>A (p.Cys445Tyr) | gnomAD v4 |
| 10 | g.104057059A>C | CA378072975 | COL17A1 | c.1381T>G (p.Cys461Gly) c.1333T>G (p.Cys445Gly) | |
| 10 | g.104057059A>G | CA378072976 | COL17A1 | c.1381T>C (p.Cys461Arg) c.1333T>C (p.Cys445Arg) | gnomAD v4 |
| 10 | g.104057059A>T | CA378072974 | COL17A1 | c.1381T>A (p.Cys461Ser) c.1333T>A (p.Cys445Ser) | |
| 10 | g.104057060G>A | CA471337843 | COL17A1 | c.1380C>T (p.Ser460=) c.1332C>T (p.Ser444=) | |
| 10 | g.104057060G>C | CA471337844 | COL17A1 | c.1380C>G (p.Ser460=) c.1332C>G (p.Ser444=) | |
| 10 | g.104057060G>T | CA471337845 | COL17A1 | c.1380C>A (p.Ser460=) c.1332C>A (p.Ser444=) | |
| 10 | g.104057060_104057107dup | CA2610800968 | COL17A1 | c.1333_1380dup (p.Ser460_Cys461insGlyGlyGlyProTrpGlyProAlaProAlaTrpCysProCysGlySer) c.1285_1332dup (p.Ser444_Cys445insGlyGlyGlyProTrpGlyProAlaProAlaTrpCysProCysGlySer) | dbSNP gnomAD v4 |
| 10 | g.104057061G>A | CA378072977 | COL17A1 | c.1379C>T (p.Ser460Phe) c.1331C>T (p.Ser444Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057061G>C | CA378072978 | COL17A1 | c.1379C>G (p.Ser460Cys) c.1331C>G (p.Ser444Cys) | |
| 10 | g.104057061G= | CA1933408564 | COL17A1 | c.1379C= (p.Ser460=) c.1331C= (p.Ser444=) | |
| 10 | g.104057061G>T | CA378072979 | COL17A1 | c.1379C>A (p.Ser460Tyr) c.1331C>A (p.Ser444Tyr) | |
| 10 | g.104057062A>C | CA378072980 | COL17A1 | c.1378T>G (p.Ser460Ala) c.1330T>G (p.Ser444Ala) | |
| 10 | g.104057062A>G | CA378072981 | COL17A1 | c.1378T>C (p.Ser460Pro) c.1330T>C (p.Ser444Pro) | |
| 10 | g.104057062A>T | CA378072982 | COL17A1 | c.1378T>A (p.Ser460Thr) c.1330T>A (p.Ser444Thr) | |
| 10 | g.104057063G>A | CA471337846 | COL17A1 | c.1377C>T (p.Gly459=) c.1329C>T (p.Gly443=) | dbSNP gnomAD v2 |
| 10 | g.104057063G>C | CA471337848 | COL17A1 | c.1377C>G (p.Gly459=) c.1329C>G (p.Gly443=) | |
| 10 | g.104057063G= | CA1933408567 | COL17A1 | c.1377C= (p.Gly459=) c.1329C= (p.Gly443=) | |
| 10 | g.104057063G>T | CA471337847 | COL17A1 | c.1377C>A (p.Gly459=) c.1329C>A (p.Gly443=) | |
| 10 | g.104057064C>A | CA378072983 | COL17A1 | c.1376G>T (p.Gly459Val) c.1328G>T (p.Gly443Val) | |
| 10 | g.104057064C>G | CA378072984 | COL17A1 | c.1376G>C (p.Gly459Ala) c.1328G>C (p.Gly443Ala) | |
| 10 | g.104057064C>T | CA378072985 | COL17A1 | c.1376G>A (p.Gly459Asp) c.1328G>A (p.Gly443Asp) | |
| 10 | g.104057065C>A | CA378072986 | COL17A1 | c.1375G>T (p.Gly459Cys) c.1327G>T (p.Gly443Cys) | |
| 10 | g.104057065C= | CA1933408572 | COL17A1 | c.1375G= (p.Gly459=) c.1327G= (p.Gly443=) | |
| 10 | g.104057065C>G | CA378072987 | COL17A1 | c.1375G>C (p.Gly459Arg) c.1327G>C (p.Gly443Arg) | |
| 10 | g.104057065C>T | CA5679050 | COL17A1 | c.1375G>A (p.Gly459Ser) c.1327G>A (p.Gly443Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057065_104057066insA | CA2610800987 | COL17A1 | c.1374_1375insT (p.Gly459TrpfsTer?) c.1326_1327insT (p.Gly443TrpfsTer?) | gnomAD v4 |
| 10 | g.104057066G>A | CA5679051 | COL17A1 | c.1374C>T (p.Cys458=) c.1326C>T (p.Cys442=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057066G>C | CA378072988 | COL17A1 | c.1374C>G (p.Cys458Trp) c.1326C>G (p.Cys442Trp) | |
| 10 | g.104057066G= | CA1933408577 | COL17A1 | c.1374C= (p.Cys458=) c.1326C= (p.Cys442=) | |
| 10 | g.104057066G>T | CA212420868 | COL17A1 | c.1374C>A (p.Cys458Ter) c.1326C>A (p.Cys442Ter) | dbSNP |
| 10 | g.104057067C>A | CA378072989 | COL17A1 | c.1373G>T (p.Cys458Phe) c.1325G>T (p.Cys442Phe) | |
| 10 | g.104057067C>G | CA378072990 | COL17A1 | c.1373G>C (p.Cys458Ser) c.1325G>C (p.Cys442Ser) | |
| 10 | g.104057067C>T | CA378072991 | COL17A1 | c.1373G>A (p.Cys458Tyr) c.1325G>A (p.Cys442Tyr) | gnomAD v4 |
| 10 | g.104057068A>C | CA378072992 | COL17A1 | c.1372T>G (p.Cys458Gly) c.1324T>G (p.Cys442Gly) | |
| 10 | g.104057068A>G | CA378072993 | COL17A1 | c.1372T>C (p.Cys458Arg) c.1324T>C (p.Cys442Arg) | |
| 10 | g.104057068A>T | CA378072994 | COL17A1 | c.1372T>A (p.Cys458Ser) c.1324T>A (p.Cys442Ser) | |
| 10 | g.104057069G>A | CA471337851 | COL17A1 | c.1371C>T (p.Pro457=) c.1323C>T (p.Pro441=) | |
| 10 | g.104057069G>C | CA471337849 | COL17A1 | c.1371C>G (p.Pro457=) c.1323C>G (p.Pro441=) | |
| 10 | g.104057069G>T | CA471337850 | COL17A1 | c.1371C>A (p.Pro457=) c.1323C>A (p.Pro441=) | |
| 10 | g.104057069_104057087delinsGGGGCACCAGGCTGGCGCT | CA1933408580 | COL17A1 | c.1353_1371delinsAGCGCCAGCCTGGTGCCCC (p.Pro451=) c.1305_1323delinsAGCGCCAGCCTGGTGCCCC (p.Pro435=) | |
| 10 | g.104057070G>A | CA378072995 | COL17A1 | c.1370C>T (p.Pro457Leu) c.1322C>T (p.Pro441Leu) | |
| 10 | g.104057070G>C | CA378072997 | COL17A1 | c.1370C>G (p.Pro457Arg) c.1322C>G (p.Pro441Arg) | |
| 10 | g.104057070G>T | CA378072996 | COL17A1 | c.1370C>A (p.Pro457His) c.1322C>A (p.Pro441His) | |
| 10 | g.104057072_104057089del | CA595683593 | COL17A1 | c.1353_1370del (p.Ala452_Pro457del) c.1305_1322del (p.Ala436_Pro441del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057071G>A | CA378072998 | COL17A1 | c.1369C>T (p.Pro457Ser) c.1321C>T (p.Pro441Ser) | gnomAD v4 |
| 10 | g.104057071G>C | CA5679052 | COL17A1 | c.1369C>G (p.Pro457Ala) c.1321C>G (p.Pro441Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |