| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108571813_108571814delinsAC | CA2450680237 | COL4A5 | c.441_442delinsAC (p.Gly147=) c.117_118delinsAC (p.Gly39=) c.456_457delinsAC (p.Gly152=) | |
| X | g.108571814C>A | CA413920347 | COL4A5 | c.442C>A (p.Pro148Thr) c.118C>A (p.Pro40Thr) c.457C>A (p.Pro153Thr) | gnomAD v3 gnomAD v4 |
| X | g.108571814C>G | CA413920348 | COL4A5 | c.442C>G (p.Pro148Ala) c.118C>G (p.Pro40Ala) c.457C>G (p.Pro153Ala) | |
| X | g.108571814C>T | CA413920349 | COL4A5 | c.442C>T (p.Pro148Ser) c.118C>T (p.Pro40Ser) c.457C>T (p.Pro153Ser) | gnomAD v4 |
| X | g.108571818dup | CA258250 | COL4A5 | c.446dup (p.Gly150TrpfsTer8) c.122dup (p.Gly42TrpfsTer8) c.461dup (p.Gly155TrpfsTer8) | dbSNP |
| X | g.108571818del | CA258251 | COL4A5 | c.446del (p.Pro149LeufsTer6) c.122del (p.Pro41LeufsTer6) c.461del (p.Pro154LeufsTer6) | ClinVar dbSNP gnomAD v4 |
| X | g.108571815C>A | CA413920351 | COL4A5 | c.443C>A (p.Pro148His) c.119C>A (p.Pro40His) c.458C>A (p.Pro153His) | gnomAD v4 |
| X | g.108571815C= | CA2450680238 | COL4A5 | c.443C= (p.Pro148=) c.119C= (p.Pro40=) c.458C= (p.Pro153=) | |
| X | g.108571815C>G | CA413920352 | COL4A5 | c.443C>G (p.Pro148Arg) c.119C>G (p.Pro40Arg) c.458C>G (p.Pro153Arg) | |
| X | g.108571815C>T | CA10488471 | COL4A5 | c.443C>T (p.Pro148Leu) c.119C>T (p.Pro40Leu) c.458C>T (p.Pro153Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108571816C>A | CA517991573 | COL4A5 | c.444C>A (p.Pro148=) c.120C>A (p.Pro40=) c.459C>A (p.Pro153=) | |
| X | g.108571816C= | CA2450680239 | COL4A5 | c.444C= (p.Pro148=) c.120C= (p.Pro40=) c.459C= (p.Pro153=) | |
| X | g.108571816C>G | CA517991574 | COL4A5 | c.444C>G (p.Pro148=) c.120C>G (p.Pro40=) c.459C>G (p.Pro153=) | |
| X | g.108571816C>T | CA517991575 | COL4A5 | c.444C>T (p.Pro148=) c.120C>T (p.Pro40=) c.459C>T (p.Pro153=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108571817C>A | CA413920374 | COL4A5 | c.445C>A (p.Pro149Thr) c.121C>A (p.Pro41Thr) c.460C>A (p.Pro154Thr) | |
| X | g.108571817C= | CA2450680240 | COL4A5 | c.445C= (p.Pro149=) c.121C= (p.Pro41=) c.460C= (p.Pro154=) | |
| X | g.108571817C>G | CA413920380 | COL4A5 | c.445C>G (p.Pro149Ala) c.121C>G (p.Pro41Ala) c.460C>G (p.Pro154Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108571817C>T | CA413920383 | COL4A5 | c.445C>T (p.Pro149Ser) c.121C>T (p.Pro41Ser) c.460C>T (p.Pro154Ser) | gnomAD v4 |
| X | g.108571818C>A | CA413920405 | COL4A5 | c.446C>A (p.Pro149His) c.122C>A (p.Pro41His) c.461C>A (p.Pro154His) | gnomAD v4 |
| X | g.108571818C>G | CA413920413 | COL4A5 | c.446C>G (p.Pro149Arg) c.122C>G (p.Pro41Arg) c.461C>G (p.Pro154Arg) | |
| X | g.108571818C>T | CA413920417 | COL4A5 | c.446C>T (p.Pro149Leu) c.122C>T (p.Pro41Leu) c.461C>T (p.Pro154Leu) | |
| X | g.108571819del | CA2694439737 | COL4A5 | c.447del (p.Ile151SerfsTer4) c.123del (p.Ile43SerfsTer4) c.462del (p.Ile156SerfsTer4) | gnomAD v4 |
| X | g.108571819T>A | CA517991577 | COL4A5 | c.447T>A (p.Pro149=) c.123T>A (p.Pro41=) c.462T>A (p.Pro154=) | |
| X | g.108571819T>C | CA517991578 | COL4A5 | c.447T>C (p.Pro149=) c.123T>C (p.Pro41=) c.462T>C (p.Pro154=) | |
| X | g.108571819T>G | CA517991576 | COL4A5 | c.447T>G (p.Pro149=) c.123T>G (p.Pro41=) c.462T>G (p.Pro154=) | |
| X | g.108571820G>A | CA413920423 | COL4A5 | c.448G>A (p.Gly150Arg) c.124G>A (p.Gly42Arg) c.463G>A (p.Gly155Arg) | gnomAD v4 |
| X | g.108571820G>C | CA413920422 | COL4A5 | c.448G>C (p.Gly150Arg) c.124G>C (p.Gly42Arg) c.463G>C (p.Gly155Arg) | |
| X | g.108571820G>T | CA413920421 | COL4A5 | c.448G>T (p.Gly150Trp) c.124G>T (p.Gly42Trp) c.463G>T (p.Gly155Trp) | |
| X | g.108571821G>A | CA413920424 | COL4A5 | c.449G>A (p.Gly150Glu) c.125G>A (p.Gly42Glu) c.464G>A (p.Gly155Glu) | |
| X | g.108571821G>C | CA413920425 | COL4A5 | c.449G>C (p.Gly150Ala) c.125G>C (p.Gly42Ala) c.464G>C (p.Gly155Ala) | |
| X | g.108571821G>T | CA413920426 | COL4A5 | c.449G>T (p.Gly150Val) c.125G>T (p.Gly42Val) c.464G>T (p.Gly155Val) | |
| X | g.108571822G>A | CA517991579 | COL4A5 | c.450G>A (p.Gly150=) c.126G>A (p.Gly42=) c.465G>A (p.Gly155=) | |
| X | g.108571822G>C | CA517991580 | COL4A5 | c.450G>C (p.Gly150=) c.126G>C (p.Gly42=) c.465G>C (p.Gly155=) | |
| X | g.108571822G= | CA2450680241 | COL4A5 | c.450G= (p.Gly150=) c.126G= (p.Gly42=) c.465G= (p.Gly155=) | |
| X | g.108571822G>T | CA334179259 | COL4A5 | c.450G>T (p.Gly150=) c.126G>T (p.Gly42=) c.465G>T (p.Gly155=) | dbSNP |
| X | g.108571823A= | CA2450680242 | COL4A5 | c.451A= (p.Ile151=) c.127A= (p.Ile43=) c.466A= (p.Ile156=) | |
| X | g.108571823A>C | CA413920428 | COL4A5 | c.451A>C (p.Ile151Leu) c.127A>C (p.Ile43Leu) c.466A>C (p.Ile156Leu) | |
| X | g.108571823A>G | CA413920434 | COL4A5 | c.451A>G (p.Ile151Val) c.127A>G (p.Ile43Val) c.466A>G (p.Ile156Val) | dbSNP gnomAD v4 |
| X | g.108571823A>T | CA413920436 | COL4A5 | c.451A>T (p.Ile151Phe) c.127A>T (p.Ile43Phe) c.466A>T (p.Ile156Phe) | |
| X | g.108571824T>A | CA413920439 | COL4A5 | c.452T>A (p.Ile151Asn) c.128T>A (p.Ile43Asn) c.467T>A (p.Ile156Asn) | dbSNP gnomAD v4 |
| X | g.108571824T>C | CA413920444 | COL4A5 | c.452T>C (p.Ile151Thr) c.128T>C (p.Ile43Thr) c.467T>C (p.Ile156Thr) | |
| X | g.108571824T>G | CA413920449 | COL4A5 | c.452T>G (p.Ile151Ser) c.128T>G (p.Ile43Ser) c.467T>G (p.Ile156Ser) | |
| X | g.108571825C>A | CA517991581 | COL4A5 | c.453C>A (p.Ile151=) c.129C>A (p.Ile43=) c.468C>A (p.Ile156=) | gnomAD v4 |
| X | g.108571825C>G | CA413920453 | COL4A5 | c.453C>G (p.Ile151Met) c.129C>G (p.Ile43Met) c.468C>G (p.Ile156Met) | |
| X | g.108571825C>T | CA517991582 | COL4A5 | c.453C>T (p.Ile151=) c.129C>T (p.Ile43=) c.468C>T (p.Ile156=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.108571825_108571827del | CA2695235600 | COL4A5 | c.453_455del (p.Pro152del) c.129_131del (p.Pro44del) c.468_470del (p.Pro157del) | |
| X | g.108571827del | CA2694439738 | COL4A5 | c.455del (p.Pro152GlnfsTer3) c.131del (p.Pro44GlnfsTer3) c.470del (p.Pro157GlnfsTer3) | gnomAD v4 |
| X | g.108571826C>A | CA413920473 | COL4A5 | c.454C>A (p.Pro152Thr) c.130C>A (p.Pro44Thr) c.469C>A (p.Pro157Thr) | |
| X | g.108571826C>G | CA413920477 | COL4A5 | c.454C>G (p.Pro152Ala) c.130C>G (p.Pro44Ala) c.469C>G (p.Pro157Ala) | gnomAD v4 |
| X | g.108571826C>T | CA413920480 | COL4A5 | c.454C>T (p.Pro152Ser) c.130C>T (p.Pro44Ser) c.469C>T (p.Pro157Ser) |