Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.104057060_104057107dup | CA2610800968 | COL17A1 | c.1333_1380dup (p.Ser460_Cys461insGlyGlyGlyProTrpGlyProAlaProAlaTrpCysProCysGlySer) c.1285_1332dup (p.Ser444_Cys445insGlyGlyGlyProTrpGlyProAlaProAlaTrpCysProCysGlySer) | dbSNP 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 |
10 | g.104057071G= | CA1933408584 | COL17A1 | c.1369C= (p.Pro457=) c.1321C= (p.Pro441=) | |
10 | g.104057071G>T | CA378072999 | COL17A1 | c.1369C>A (p.Pro457Thr) c.1321C>A (p.Pro441Thr) | dbSNP |
10 | g.104057074_104057084del | CA2610801005 | COL17A1 | c.1359_1369del (p.Ala454LeufsTer?) c.1311_1321del (p.Ala438LeufsTer?) | gnomAD v4 |
10 | g.104057072G>A | CA471337852 | COL17A1 | c.1368C>T (p.Cys456=) c.1320C>T (p.Cys440=) | gnomAD v4 |
10 | g.104057072G>C | CA5679053 | COL17A1 | c.1368C>G (p.Cys456Trp) c.1320C>G (p.Cys440Trp) | dbSNP ExAC gnomAD v2 |
10 | g.104057072G= | CA1933408587 | COL17A1 | c.1368C= (p.Cys456=) c.1320C= (p.Cys440=) | |
10 | g.104057072G>T | CA378073000 | COL17A1 | c.1368C>A (p.Cys456Ter) c.1320C>A (p.Cys440Ter) | |
10 | g.104057073C>A | CA378073002 | COL17A1 | c.1367G>T (p.Cys456Phe) c.1319G>T (p.Cys440Phe) | |
10 | g.104057073C>G | CA378073003 | COL17A1 | c.1367G>C (p.Cys456Ser) c.1319G>C (p.Cys440Ser) | |
10 | g.104057073C>T | CA378073001 | COL17A1 | c.1367G>A (p.Cys456Tyr) c.1319G>A (p.Cys440Tyr) | |
10 | g.104057074A= | CA1933408590 | COL17A1 | c.1366T= (p.Cys456=) c.1318T= (p.Cys440=) | |
10 | g.104057074A>C | CA378073005 | COL17A1 | c.1366T>G (p.Cys456Gly) c.1318T>G (p.Cys440Gly) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104057074A>G | CA378073004 | COL17A1 | c.1366T>C (p.Cys456Arg) c.1318T>C (p.Cys440Arg) | |
10 | g.104057074A>T | CA378073006 | COL17A1 | c.1366T>A (p.Cys456Ser) c.1318T>A (p.Cys440Ser) | |
10 | g.104057075C>A | CA378073007 | COL17A1 | c.1365G>T (p.Trp455Cys) c.1317G>T (p.Trp439Cys) | |
10 | g.104057075C= | CA1933408595 | COL17A1 | c.1365G= (p.Trp455=) c.1317G= (p.Trp439=) | |
10 | g.104057075C>G | CA378073008 | COL17A1 | c.1365G>C (p.Trp455Cys) c.1317G>C (p.Trp439Cys) | |
10 | g.104057075C>T | CA378073009 | COL17A1 | c.1365G>A (p.Trp455Ter) c.1317G>A (p.Trp439Ter) | dbSNP |
10 | g.104057076C>A | CA378073010 | COL17A1 | c.1364G>T (p.Trp455Leu) c.1316G>T (p.Trp439Leu) | |
10 | g.104057076C>G | CA378073011 | COL17A1 | c.1364G>C (p.Trp455Ser) c.1316G>C (p.Trp439Ser) | |
10 | g.104057076C>T | CA378073012 | COL17A1 | c.1364G>A (p.Trp455Ter) c.1316G>A (p.Trp439Ter) | |
10 | g.104057077A>C | CA378073013 | COL17A1 | c.1363T>G (p.Trp455Gly) c.1315T>G (p.Trp439Gly) | |
10 | g.104057077A>G | CA378073014 | COL17A1 | c.1363T>C (p.Trp455Arg) c.1315T>C (p.Trp439Arg) | |
10 | g.104057077A>T | CA378073015 | COL17A1 | c.1363T>A (p.Trp455Arg) c.1315T>A (p.Trp439Arg) | |
10 | g.104057078G>A | CA471337853 | COL17A1 | c.1362C>T (p.Ala454=) c.1314C>T (p.Ala438=) | gnomAD v4 |
10 | g.104057078G>C | CA471337854 | COL17A1 | c.1362C>G (p.Ala454=) c.1314C>G (p.Ala438=) | |
10 | g.104057078G>T | CA471337855 | COL17A1 | c.1362C>A (p.Ala454=) c.1314C>A (p.Ala438=) | |
10 | g.104057079G>A | CA378073016 | COL17A1 | c.1361C>T (p.Ala454Val) c.1313C>T (p.Ala438Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104057079G>C | CA378073017 | COL17A1 | c.1361C>G (p.Ala454Gly) c.1313C>G (p.Ala438Gly) | |
10 | g.104057079G= | CA1933408597 | COL17A1 | c.1361C= (p.Ala454=) c.1313C= (p.Ala438=) | |
10 | g.104057079G>T | CA378073018 | COL17A1 | c.1361C>A (p.Ala454Asp) c.1313C>A (p.Ala438Asp) | |
10 | g.104057080C>A | CA5679054 | COL17A1 | c.1360G>T (p.Ala454Ser) c.1312G>T (p.Ala438Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104057080C= | CA1933408600 | COL17A1 | c.1360G= (p.Ala454=) c.1312G= (p.Ala438=) | |
10 | g.104057080C>G | CA378073020 | COL17A1 | c.1360G>C (p.Ala454Pro) c.1312G>C (p.Ala438Pro) | |
10 | g.104057080C>T | CA378073019 | COL17A1 | c.1360G>A (p.Ala454Thr) c.1312G>A (p.Ala438Thr) | |
10 | g.104057081T>A | CA471337856 | COL17A1 | c.1359A>T (p.Pro453=) c.1311A>T (p.Pro437=) |