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.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=) | ClinVar 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) | ClinVar dbSNP |
10 | g.104057066dup | CA2789321328 | COL17A1 | c.1374dup (p.Gly459ArgfsTer?) c.1326dup (p.Gly443ArgfsTer?) | |
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 |
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) |