| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108626214_108626215del | CA2695235756 | COL4A5 | c.3111_3112del (p.Gln1038GlyfsTer29) n.2567_2568del c.344_345del c.2787_2788del (p.Gln930GlyfsTer29) c.684_685del (p.Gln229GlyfsTer29) c.3126_3127del (p.Gln1043GlyfsTer29) c.1446_1447del (p.Gln483GlyfsTer29) | |
| X | g.108626215C>A | CA413854850 | COL4A5 | c.3112C>A (p.Gln1038Lys) n.2568C>A c.345C>A c.2788C>A (p.Gln930Lys) c.685C>A (p.Gln229Lys) c.3127C>A (p.Gln1043Lys) c.1447C>A (p.Gln483Lys) | |
| X | g.108626215C>G | CA413854851 | COL4A5 | c.3112C>G (p.Gln1038Glu) n.2568C>G c.345C>G c.2788C>G (p.Gln930Glu) c.685C>G (p.Gln229Glu) c.3127C>G (p.Gln1043Glu) c.1447C>G (p.Gln483Glu) | |
| X | g.108626215C>T | CA413854852 | COL4A5 | c.3112C>T (p.Gln1038Ter) n.2568C>T c.345C>T c.2788C>T (p.Gln930Ter) c.685C>T (p.Gln229Ter) c.3127C>T (p.Gln1043Ter) c.1447C>T (p.Gln483Ter) | |
| X | g.108626216A>C | CA413854854 | COL4A5 | c.3113A>C (p.Gln1038Pro) n.2569A>C c.346A>C c.2789A>C (p.Gln930Pro) c.686A>C (p.Gln229Pro) c.3128A>C (p.Gln1043Pro) c.1448A>C (p.Gln483Pro) | |
| X | g.108626216A>G | CA413854855 | COL4A5 | c.3113A>G (p.Gln1038Arg) n.2569A>G c.346A>G c.2789A>G (p.Gln930Arg) c.686A>G (p.Gln229Arg) c.3128A>G (p.Gln1043Arg) c.1448A>G (p.Gln483Arg) | |
| X | g.108626216A>T | CA413854853 | COL4A5 | c.3113A>T (p.Gln1038Leu) n.2569A>T c.346A>T c.2789A>T (p.Gln930Leu) c.686A>T (p.Gln229Leu) c.3128A>T (p.Gln1043Leu) c.1448A>T (p.Gln483Leu) | |
| X | g.108626217G>A | CA517925579 | COL4A5 | c.3114G>A (p.Gln1038=) n.2570G>A c.347G>A c.2790G>A (p.Gln930=) c.687G>A (p.Gln229=) c.3129G>A (p.Gln1043=) c.1449G>A (p.Gln483=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108626217G>C | CA413854857 | COL4A5 | c.3114G>C (p.Gln1038His) n.2570G>C c.347G>C c.2790G>C (p.Gln930His) c.687G>C (p.Gln229His) c.3129G>C (p.Gln1043His) c.1449G>C (p.Gln483His) | |
| X | g.108626217G= | CA2450698065 | COL4A5 | c.3114G= (p.Gln1038=) n.2570G= c.347G= c.2790G= (p.Gln930=) c.687G= (p.Gln229=) c.3129G= (p.Gln1043=) c.1449G= (p.Gln483=) | |
| X | g.108626217G>T | CA413854856 | COL4A5 | c.3114G>T (p.Gln1038His) n.2570G>T c.347G>T c.2790G>T (p.Gln930His) c.687G>T (p.Gln229His) c.3129G>T (p.Gln1043His) c.1449G>T (p.Gln483His) | gnomAD v4 |
| X | g.108626218G>A | CA258808 | COL4A5 | c.3115G>A (p.Gly1039Ser) n.2571G>A c.348G>A c.2791G>A (p.Gly931Ser) c.688G>A (p.Gly230Ser) c.3130G>A (p.Gly1044Ser) c.1450G>A (p.Gly484Ser) | dbSNP |
| X | g.108626218G>C | CA413854858 | COL4A5 | c.3115G>C (p.Gly1039Arg) n.2571G>C c.348G>C c.2791G>C (p.Gly931Arg) c.688G>C (p.Gly230Arg) c.3130G>C (p.Gly1044Arg) c.1450G>C (p.Gly484Arg) | |
| X | g.108626218G= | CA2450698066 | COL4A5 | c.3115G= (p.Gly1039=) n.2571G= c.348G= c.2791G= (p.Gly931=) c.688G= (p.Gly230=) c.3130G= (p.Gly1044=) c.1450G= (p.Gly484=) | |
| X | g.108626218G>T | CA413854859 | COL4A5 | c.3115G>T (p.Gly1039Cys) n.2571G>T c.348G>T c.2791G>T (p.Gly931Cys) c.688G>T (p.Gly230Cys) c.3130G>T (p.Gly1044Cys) c.1450G>T (p.Gly484Cys) | |
| X | g.108626219G>A | CA413854860 | COL4A5 | c.3116G>A (p.Gly1039Asp) n.2572G>A c.349G>A c.2792G>A (p.Gly931Asp) c.689G>A (p.Gly230Asp) c.3131G>A (p.Gly1044Asp) c.1451G>A (p.Gly484Asp) | ClinVar dbSNP |
| X | g.108626219G>C | CA413854861 | COL4A5 | c.3116G>C (p.Gly1039Ala) n.2572G>C c.349G>C c.2792G>C (p.Gly931Ala) c.689G>C (p.Gly230Ala) c.3131G>C (p.Gly1044Ala) c.1451G>C (p.Gly484Ala) | |
| X | g.108626219G= | CA2450698067 | COL4A5 | c.3116G= (p.Gly1039=) n.2572G= c.349G= c.2792G= (p.Gly931=) c.689G= (p.Gly230=) c.3131G= (p.Gly1044=) c.1451G= (p.Gly484=) | |
| X | g.108626219G>T | CA413854862 | COL4A5 | c.3116G>T (p.Gly1039Val) n.2572G>T c.349G>T c.2792G>T (p.Gly931Val) c.689G>T (p.Gly230Val) c.3131G>T (p.Gly1044Val) c.1451G>T (p.Gly484Val) | |
| X | g.108626220T>A | CA517925603 | COL4A5 | c.3117T>A (p.Gly1039=) n.2573T>A c.350T>A c.2793T>A (p.Gly931=) c.690T>A (p.Gly230=) c.3132T>A (p.Gly1044=) c.1452T>A (p.Gly484=) | |
| X | g.108626220T>C | CA517925605 | COL4A5 | c.3117T>C (p.Gly1039=) n.2573T>C c.350T>C c.2793T>C (p.Gly931=) c.690T>C (p.Gly230=) c.3132T>C (p.Gly1044=) c.1452T>C (p.Gly484=) | ClinVar dbSNP |
| X | g.108626220T>G | CA517925607 | COL4A5 | c.3117T>G (p.Gly1039=) n.2573T>G c.350T>G c.2793T>G (p.Gly931=) c.690T>G (p.Gly230=) c.3132T>G (p.Gly1044=) c.1452T>G (p.Gly484=) | |
| X | g.108626221G>A | CA413854863 | COL4A5 | c.3118G>A (p.Val1040Met) n.2574G>A c.351G>A c.2794G>A (p.Val932Met) c.691G>A (p.Val231Met) c.3133G>A (p.Val1045Met) c.1453G>A (p.Val485Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108626221G>C | CA413854864 | COL4A5 | c.3118G>C (p.Val1040Leu) n.2574G>C c.351G>C c.2794G>C (p.Val932Leu) c.691G>C (p.Val231Leu) c.3133G>C (p.Val1045Leu) c.1453G>C (p.Val485Leu) | |
| X | g.108626221G= | CA2450698068 | COL4A5 | c.3118G= (p.Val1040=) n.2574G= c.351G= c.2794G= (p.Val932=) c.691G= (p.Val231=) c.3133G= (p.Val1045=) c.1453G= (p.Val485=) | |
| X | g.108626221G>T | CA413854865 | COL4A5 | c.3118G>T (p.Val1040Leu) n.2574G>T c.351G>T c.2794G>T (p.Val932Leu) c.691G>T (p.Val231Leu) c.3133G>T (p.Val1045Leu) c.1453G>T (p.Val485Leu) | |
| X | g.108626221_108626223delinsGTG | CA2450698069 | COL4A5 | c.3118_3120delinsGTG (p.Val1040=) n.2574_2576delinsGTG c.351_353delinsGTG c.2794_2796delinsGTG (p.Val932=) c.691_693delinsGTG (p.Val231=) c.3133_3135delinsGTG (p.Val1045=) c.1453_1455delinsGTG (p.Val485=) | |
| X | g.108626222T>A | CA413854866 | COL4A5 | c.3119T>A (p.Val1040Glu) n.2575T>A c.352T>A c.2795T>A (p.Val932Glu) c.692T>A (p.Val231Glu) c.3134T>A (p.Val1045Glu) c.1454T>A (p.Val485Glu) | |
| X | g.108626222T>C | CA413854867 | COL4A5 | c.3119T>C (p.Val1040Ala) n.2575T>C c.352T>C c.2795T>C (p.Val932Ala) c.692T>C (p.Val231Ala) c.3134T>C (p.Val1045Ala) c.1454T>C (p.Val485Ala) | |
| X | g.108626222T>G | CA413854868 | COL4A5 | c.3119T>G (p.Val1040Gly) n.2575T>G c.352T>G c.2795T>G (p.Val932Gly) c.692T>G (p.Val231Gly) c.3134T>G (p.Val1045Gly) c.1454T>G (p.Val485Gly) | |
| X | g.108626222_108626223delinsA | CA1139667755 | COL4A5 | c.3119_3120delinsA (p.Val1040GlufsTer?) n.2575_2576delinsA c.352_353delinsA c.2795_2796delinsA (p.Val932GlufsTer?) c.692_693delinsA (p.Val231GlufsTer?) c.3134_3135delinsA (p.Val1045GlufsTer?) c.1454_1455delinsA (p.Val485GlufsTer?) | ClinVar dbSNP |
| X | g.108626223G>A | CA517925625 | COL4A5 | c.3120G>A (p.Val1040=) n.2576G>A c.353G>A c.2796G>A (p.Val932=) c.693G>A (p.Val231=) c.3135G>A (p.Val1045=) c.1455G>A (p.Val485=) | |
| X | g.108626223G>C | CA517925626 | COL4A5 | c.3120G>C (p.Val1040=) n.2576G>C c.353G>C c.2796G>C (p.Val932=) c.693G>C (p.Val231=) c.3135G>C (p.Val1045=) c.1455G>C (p.Val485=) | |
| X | g.108626223G>T | CA517925628 | COL4A5 | c.3120G>T (p.Val1040=) n.2576G>T c.353G>T c.2796G>T (p.Val932=) c.693G>T (p.Val231=) c.3135G>T (p.Val1045=) c.1455G>T (p.Val485=) | |
| X | g.108626224G>A | CA413854869 | COL4A5 | c.3121G>A (p.Glu1041Lys) n.2577G>A c.354G>A c.2797G>A (p.Glu933Lys) c.694G>A (p.Glu232Lys) c.3136G>A (p.Glu1046Lys) c.1456G>A (p.Glu486Lys) | |
| X | g.108626224G>C | CA413854871 | COL4A5 | c.3121G>C (p.Glu1041Gln) n.2577G>C c.354G>C c.2797G>C (p.Glu933Gln) c.694G>C (p.Glu232Gln) c.3136G>C (p.Glu1046Gln) c.1456G>C (p.Glu486Gln) | |
| X | g.108626224G>T | CA413854870 | COL4A5 | c.3121G>T (p.Glu1041Ter) n.2577G>T c.354G>T c.2797G>T (p.Glu933Ter) c.694G>T (p.Glu232Ter) c.3136G>T (p.Glu1046Ter) c.1456G>T (p.Glu486Ter) | |
| X | g.108626225A>C | CA413854872 | COL4A5 | c.3122A>C (p.Glu1041Ala) n.2578A>C c.355A>C c.2798A>C (p.Glu933Ala) c.695A>C (p.Glu232Ala) c.3137A>C (p.Glu1046Ala) c.1457A>C (p.Glu486Ala) | |
| X | g.108626225A>G | CA413854873 | COL4A5 | c.3122A>G (p.Glu1041Gly) n.2578A>G c.355A>G c.2798A>G (p.Glu933Gly) c.695A>G (p.Glu232Gly) c.3137A>G (p.Glu1046Gly) c.1457A>G (p.Glu486Gly) | |
| X | g.108626225A>T | CA413854874 | COL4A5 | c.3122A>T (p.Glu1041Val) n.2578A>T c.355A>T c.2798A>T (p.Glu933Val) c.695A>T (p.Glu232Val) c.3137A>T (p.Glu1046Val) c.1457A>T (p.Glu486Val) | |
| X | g.108626226A>C | CA413854875 | COL4A5 | c.3123A>C (p.Glu1041Asp) n.2579A>C c.356A>C c.2799A>C (p.Glu933Asp) c.696A>C (p.Glu232Asp) c.3138A>C (p.Glu1046Asp) c.1458A>C (p.Glu486Asp) | |
| X | g.108626226A>G | CA517925639 | COL4A5 | c.3123A>G (p.Glu1041=) n.2579A>G c.356A>G c.2799A>G (p.Glu933=) c.696A>G (p.Glu232=) c.3138A>G (p.Glu1046=) c.1458A>G (p.Glu486=) | |
| X | g.108626226A>T | CA413854876 | COL4A5 | c.3123A>T (p.Glu1041Asp) n.2579A>T c.356A>T c.2799A>T (p.Glu933Asp) c.696A>T (p.Glu232Asp) c.3138A>T (p.Glu1046Asp) c.1458A>T (p.Glu486Asp) | |
| X | g.108626227G>A | CA413854877 | COL4A5 | c.3124G>A (p.Gly1042Arg) n.2580G>A c.357G>A c.2800G>A (p.Gly934Arg) c.697G>A (p.Gly233Arg) c.3139G>A (p.Gly1047Arg) c.1459G>A (p.Gly487Arg) | gnomAD v4 |
| X | g.108626227G>C | CA413854878 | COL4A5 | c.3124G>C (p.Gly1042Arg) n.2580G>C c.357G>C c.2800G>C (p.Gly934Arg) c.697G>C (p.Gly233Arg) c.3139G>C (p.Gly1047Arg) c.1459G>C (p.Gly487Arg) | |
| X | g.108626227G>T | CA413854879 | COL4A5 | c.3124G>T (p.Gly1042Trp) n.2580G>T c.357G>T c.2800G>T (p.Gly934Trp) c.697G>T (p.Gly233Trp) c.3139G>T (p.Gly1047Trp) c.1459G>T (p.Gly487Trp) | |
| X | g.108626228G>A | CA413854880 | COL4A5 | c.3125G>A (p.Gly1042Glu) n.2581G>A c.358G>A c.2801G>A (p.Gly934Glu) c.698G>A (p.Gly233Glu) c.3140G>A (p.Gly1047Glu) c.1460G>A (p.Gly487Glu) | |
| X | g.108626228G>C | CA413854881 | COL4A5 | c.3125G>C (p.Gly1042Ala) n.2581G>C c.358G>C c.2801G>C (p.Gly934Ala) c.698G>C (p.Gly233Ala) c.3140G>C (p.Gly1047Ala) c.1460G>C (p.Gly487Ala) | |
| X | g.108626228G>T | CA413854882 | COL4A5 | c.3125G>T (p.Gly1042Val) n.2581G>T c.358G>T c.2801G>T (p.Gly934Val) c.698G>T (p.Gly233Val) c.3140G>T (p.Gly1047Val) c.1460G>T (p.Gly487Val) | |
| X | g.108626229G>A | CA517925655 | COL4A5 | c.3126G>A (p.Gly1042=) n.2582G>A c.359G>A c.2802G>A (p.Gly934=) c.699G>A (p.Gly233=) c.3141G>A (p.Gly1047=) c.1461G>A (p.Gly487=) | COSMIC |