| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108573623_108573640del | CA2531530036 | COL4A5 | c.515_532del (p.Asn172_Pro178delinsThr) c.191_208del (p.Asn64_Pro70delinsThr) c.530_547del (p.Asn177_Pro183delinsThr) | |
| X | g.108573628G>A | CA413920996 | COL4A5 | c.520G>A (p.Gly174Arg) c.196G>A (p.Gly66Arg) c.535G>A (p.Gly179Arg) | |
| X | g.108573628G>C | CA258255 | COL4A5 | c.520G>C (p.Gly174Arg) c.196G>C (p.Gly66Arg) c.535G>C (p.Gly179Arg) | dbSNP |
| X | g.108573628G= | CA2450680732 | COL4A5 | c.520G= (p.Gly174=) c.196G= (p.Gly66=) c.535G= (p.Gly179=) | |
| X | g.108573628G>T | CA413921000 | COL4A5 | c.520G>T (p.Gly174Ter) c.196G>T (p.Gly66Ter) c.535G>T (p.Gly179Ter) | gnomAD v4 |
| X | g.108573629G>A | CA413921009 | COL4A5 | c.521G>A (p.Gly174Glu) c.197G>A (p.Gly66Glu) c.536G>A (p.Gly179Glu) | COSMIC |
| X | g.108573629G>C | CA413921006 | COL4A5 | c.521G>C (p.Gly174Ala) c.197G>C (p.Gly66Ala) c.536G>C (p.Gly179Ala) | |
| X | g.108573629G>T | CA413921003 | COL4A5 | c.521G>T (p.Gly174Val) c.197G>T (p.Gly66Val) c.536G>T (p.Gly179Val) | |
| X | g.108573630A>C | CA517991633 | COL4A5 | c.522A>C (p.Gly174=) c.198A>C (p.Gly66=) c.537A>C (p.Gly179=) | |
| X | g.108573630A>G | CA517991634 | COL4A5 | c.522A>G (p.Gly174=) c.198A>G (p.Gly66=) c.537A>G (p.Gly179=) | |
| X | g.108573630A>T | CA517991635 | COL4A5 | c.522A>T (p.Gly174=) c.198A>T (p.Gly66=) c.537A>T (p.Gly179=) | |
| X | g.108573631T>A | CA413921011 | COL4A5 | c.523T>A (p.Tyr175Asn) c.199T>A (p.Tyr67Asn) c.538T>A (p.Tyr180Asn) | |
| X | g.108573631T>C | CA413921015 | COL4A5 | c.523T>C (p.Tyr175His) c.199T>C (p.Tyr67His) c.538T>C (p.Tyr180His) | |
| X | g.108573631T>G | CA413921013 | COL4A5 | c.523T>G (p.Tyr175Asp) c.199T>G (p.Tyr67Asp) c.538T>G (p.Tyr180Asp) | |
| X | g.108573632A= | CA2450680738 | COL4A5 | c.524A= (p.Tyr175=) c.200A= (p.Tyr67=) c.539A= (p.Tyr180=) | |
| X | g.108573632A>C | CA413921018 | COL4A5 | c.524A>C (p.Tyr175Ser) c.200A>C (p.Tyr67Ser) c.539A>C (p.Tyr180Ser) | dbSNP gnomAD v4 |
| X | g.108573632A>G | CA413921022 | COL4A5 | c.524A>G (p.Tyr175Cys) c.200A>G (p.Tyr67Cys) c.539A>G (p.Tyr180Cys) | |
| X | g.108573632A>T | CA413921020 | COL4A5 | c.524A>T (p.Tyr175Phe) c.200A>T (p.Tyr67Phe) c.539A>T (p.Tyr180Phe) | |
| X | g.108573633T>A | CA413921025 | COL4A5 | c.525T>A (p.Tyr175Ter) c.201T>A (p.Tyr67Ter) c.540T>A (p.Tyr180Ter) | |
| X | g.108573633T>C | CA517991636 | COL4A5 | c.525T>C (p.Tyr175=) c.201T>C (p.Tyr67=) c.540T>C (p.Tyr180=) | |
| X | g.108573633T>G | CA413921027 | COL4A5 | c.525T>G (p.Tyr175Ter) c.201T>G (p.Tyr67Ter) c.540T>G (p.Tyr180Ter) | |
| X | g.108573636_108573644del | CA2694411165 | COL4A5 | c.528_536del (p.Gly177_Pro179del) c.204_212del (p.Gly69_Pro71del) c.543_551del (p.Gly182_Pro184del) | gnomAD v4 |
| X | g.108573634C>A | CA413921037 | COL4A5 | c.526C>A (p.Pro176Thr) c.202C>A (p.Pro68Thr) c.541C>A (p.Pro181Thr) | gnomAD v4 |
| X | g.108573634C= | CA2450680742 | COL4A5 | c.526C= (p.Pro176=) c.202C= (p.Pro68=) c.541C= (p.Pro181=) | |
| X | g.108573634C>G | CA413921040 | COL4A5 | c.526C>G (p.Pro176Ala) c.202C>G (p.Pro68Ala) c.541C>G (p.Pro181Ala) | |
| X | g.108573634C>T | CA413921043 | COL4A5 | c.526C>T (p.Pro176Ser) c.202C>T (p.Pro68Ser) c.541C>T (p.Pro181Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108573635C>A | CA413921044 | COL4A5 | c.527C>A (p.Pro176Gln) c.203C>A (p.Pro68Gln) c.542C>A (p.Pro181Gln) | gnomAD v4 |
| X | g.108573635C>G | CA413921046 | COL4A5 | c.527C>G (p.Pro176Arg) c.203C>G (p.Pro68Arg) c.542C>G (p.Pro181Arg) | |
| X | g.108573635C>T | CA413921048 | COL4A5 | c.527C>T (p.Pro176Leu) c.203C>T (p.Pro68Leu) c.542C>T (p.Pro181Leu) | |
| X | g.108573636A= | CA2450680746 | COL4A5 | c.528A= (p.Pro176=) c.204A= (p.Pro68=) c.543A= (p.Pro181=) | |
| X | g.108573636A>C | CA517991637 | COL4A5 | c.528A>C (p.Pro176=) c.204A>C (p.Pro68=) c.543A>C (p.Pro181=) | |
| X | g.108573636A>G | CA10488479 | COL4A5 | c.528A>G (p.Pro176=) c.204A>G (p.Pro68=) c.543A>G (p.Pro181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108573636A>T | CA517991638 | COL4A5 | c.528A>T (p.Pro176=) c.204A>T (p.Pro68=) c.543A>T (p.Pro181=) | |
| X | g.108573637G>A | CA413921054 | COL4A5 | c.529G>A (p.Gly177Ser) c.205G>A (p.Gly69Ser) c.544G>A (p.Gly182Ser) | |
| X | g.108573637G>C | CA258259 | COL4A5 | c.529G>C (p.Gly177Arg) c.205G>C (p.Gly69Arg) c.544G>C (p.Gly182Arg) | dbSNP |
| X | g.108573637G= | CA2450680747 | COL4A5 | c.529G= (p.Gly177=) c.205G= (p.Gly69=) c.544G= (p.Gly182=) | |
| X | g.108573637G>T | CA258257 | COL4A5 | c.529G>T (p.Gly177Cys) c.205G>T (p.Gly69Cys) c.544G>T (p.Gly182Cys) | ClinVar dbSNP |
| X | g.108573638G>A | CA413921068 | COL4A5 | c.530G>A (p.Gly177Asp) c.206G>A (p.Gly69Asp) c.545G>A (p.Gly182Asp) | ClinVar dbSNP |
| X | g.108573638G>C | CA413921062 | COL4A5 | c.530G>C (p.Gly177Ala) c.206G>C (p.Gly69Ala) c.545G>C (p.Gly182Ala) | ClinVar |
| X | g.108573638G= | CA2450680751 | COL4A5 | c.530G= (p.Gly177=) c.206G= (p.Gly69=) c.545G= (p.Gly182=) | |
| X | g.108573638G>T | CA413921066 | COL4A5 | c.530G>T (p.Gly177Val) c.206G>T (p.Gly69Val) c.545G>T (p.Gly182Val) | |
| X | g.108573639T>A | CA517991639 | COL4A5 | c.531T>A (p.Gly177=) c.207T>A (p.Gly69=) c.546T>A (p.Gly182=) | |
| X | g.108573639T>C | CA517991640 | COL4A5 | c.531T>C (p.Gly177=) c.207T>C (p.Gly69=) c.546T>C (p.Gly182=) | |
| X | g.108573639T>G | CA517991641 | COL4A5 | c.531T>G (p.Gly177=) c.207T>G (p.Gly69=) c.546T>G (p.Gly182=) | |
| X | g.108573639_108573640delinsTC | CA2450680755 | COL4A5 | c.531_532delinsTC (p.Gly177=) c.207_208delinsTC (p.Gly69=) c.546_547delinsTC (p.Gly182=) | |
| X | g.108573640C>A | CA413921071 | COL4A5 | c.532C>A (p.Pro178Thr) c.208C>A (p.Pro70Thr) c.547C>A (p.Pro183Thr) | gnomAD v4 |
| X | g.108573640C= | CA2450680765 | COL4A5 | c.532C= (p.Pro178=) c.208C= (p.Pro70=) c.547C= (p.Pro183=) | |
| X | g.108573640C>G | CA413921073 | COL4A5 | c.532C>G (p.Pro178Ala) c.208C>G (p.Pro70Ala) c.547C>G (p.Pro183Ala) | gnomAD v4 |
| X | g.108573640C>T | CA413921076 | COL4A5 | c.532C>T (p.Pro178Ser) c.208C>T (p.Pro70Ser) c.547C>T (p.Pro183Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108573641del | CA258261 | COL4A5 | c.533del (p.Pro178LeufsTer25) c.209del (p.Pro70LeufsTer25) c.548del (p.Pro183LeufsTer25) | dbSNP gnomAD v4 |