| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108626203del | CA2694440642 | COL4A5 | c.3107-7del (n.3107-7del) n.2563-7del c.340-7del c.2783-7del (n.2783-7del) c.680-7del (n.680-7del) c.3122-7del (n.3122-7del) c.1442-7del (n.1442-7del) | gnomAD v4 |
| X | g.108626201T>C | CA2694440643 | COL4A5 | c.3107-9T>C (n.3107-9T>C) n.2563-9T>C c.340-9T>C c.2783-9T>C (n.2783-9T>C) c.680-9T>C (n.680-9T>C) c.3122-9T>C (n.3122-9T>C) c.1442-9T>C (n.1442-9T>C) | gnomAD v4 |
| X | g.108626204C>T | CA2579676663 | COL4A5 | c.3107-6C>T (n.3107-6C>T) n.2563-6C>T c.340-6C>T c.2783-6C>T (n.2783-6C>T) c.680-6C>T (n.680-6C>T) c.3122-6C>T (n.3122-6C>T) c.1442-6C>T (n.1442-6C>T) | |
| X | g.108626206A= | CA2450698060 | COL4A5 | c.3107-4A= (n.3107-4A=) n.2563-4A= c.340-4A= c.2783-4A= (n.2783-4A=) c.680-4A= (n.680-4A=) c.3122-4A= (n.3122-4A=) c.1442-4A= (n.1442-4A=) | |
| X | g.108626206A>G | CA261090 | COL4A5 | c.3107-4A>G (n.3107-4A>G) n.2563-4A>G c.340-4A>G c.2783-4A>G (n.2783-4A>G) c.680-4A>G (n.680-4A>G) c.3122-4A>G (n.3122-4A>G) c.1442-4A>G (n.1442-4A>G) | ClinVar dbSNP |
| X | g.108626207C>A | CA2579676664 | COL4A5 | c.3107-3C>A (n.3107-3C>A) n.2563-3C>A c.340-3C>A c.2783-3C>A (n.2783-3C>A) c.680-3C>A (n.680-3C>A) c.3122-3C>A (n.3122-3C>A) c.1442-3C>A (n.1442-3C>A) | |
| X | g.108626208A= | CA2450698061 | COL4A5 | c.3107-2A= (n.3107-2A=) n.2563-2A= c.340-2A= c.2783-2A= (n.2783-2A=) c.680-2A= (n.680-2A=) c.3122-2A= (n.3122-2A=) c.1442-2A= (n.1442-2A=) | |
| X | g.108626208A>C | CA413854832 | COL4A5 | c.3107-2A>C (n.3107-2A>C) n.2563-2A>C c.340-2A>C c.2783-2A>C (n.2783-2A>C) c.680-2A>C (n.680-2A>C) c.3122-2A>C (n.3122-2A>C) c.1442-2A>C (n.1442-2A>C) | |
| X | g.108626208A>G | CA258805 | COL4A5 | c.3107-2A>G (n.3107-2A>G) n.2563-2A>G c.340-2A>G c.2783-2A>G (n.2783-2A>G) c.680-2A>G (n.680-2A>G) c.3122-2A>G (n.3122-2A>G) c.1442-2A>G (n.1442-2A>G) | dbSNP |
| X | g.108626208A>T | CA413854834 | COL4A5 | c.3107-2A>T (n.3107-2A>T) n.2563-2A>T c.340-2A>T c.2783-2A>T (n.2783-2A>T) c.680-2A>T (n.680-2A>T) c.3122-2A>T (n.3122-2A>T) c.1442-2A>T (n.1442-2A>T) | |
| X | g.108626209G>A | CA413854839 | COL4A5 | c.3107-1G>A (n.3107-1G>A) n.2563-1G>A c.340-1G>A c.2783-1G>A (n.2783-1G>A) c.680-1G>A (n.680-1G>A) c.3122-1G>A (n.3122-1G>A) c.1442-1G>A (n.1442-1G>A) | |
| X | g.108626209G>C | CA413854836 | COL4A5 | c.3107-1G>C (n.3107-1G>C) n.2563-1G>C c.340-1G>C c.2783-1G>C (n.2783-1G>C) c.680-1G>C (n.680-1G>C) c.3122-1G>C (n.3122-1G>C) c.1442-1G>C (n.1442-1G>C) | |
| X | g.108626209G>T | CA413854837 | COL4A5 | c.3107-1G>T (n.3107-1G>T) n.2563-1G>T c.340-1G>T c.2783-1G>T (n.2783-1G>T) c.680-1G>T (n.680-1G>T) c.3122-1G>T (n.3122-1G>T) c.1442-1G>T (n.1442-1G>T) | |
| X | g.108626210G>A | CA413854841 | COL4A5 | c.3107G>A (p.Gly1036Glu) n.2563G>A c.340G>A c.2783G>A (p.Gly928Glu) c.680G>A (p.Gly227Glu) c.3122G>A (p.Gly1041Glu) c.1442G>A (p.Gly481Glu) | ClinVar dbSNP |
| X | g.108626210G>C | CA413854843 | COL4A5 | c.3107G>C (p.Gly1036Ala) n.2563G>C c.340G>C c.2783G>C (p.Gly928Ala) c.680G>C (p.Gly227Ala) c.3122G>C (p.Gly1041Ala) c.1442G>C (p.Gly481Ala) | |
| X | g.108626210G= | CA2450698062 | COL4A5 | c.3107G= (p.Gly1036=) n.2563G= c.340G= c.2783G= (p.Gly928=) c.680G= (p.Gly227=) c.3122G= (p.Gly1041=) c.1442G= (p.Gly481=) | |
| X | g.108626210G>T | CA258806 | COL4A5 | c.3107G>T (p.Gly1036Val) n.2563G>T c.340G>T c.2783G>T (p.Gly928Val) c.680G>T (p.Gly227Val) c.3122G>T (p.Gly1041Val) c.1442G>T (p.Gly481Val) | dbSNP |
| X | g.108626211G>A | CA517925547 | COL4A5 | c.3108G>A (p.Gly1036=) n.2564G>A c.341G>A c.2784G>A (p.Gly928=) c.681G>A (p.Gly227=) c.3123G>A (p.Gly1041=) c.1443G>A (p.Gly481=) | dbSNP |
| X | g.108626211G>C | CA517925549 | COL4A5 | c.3108G>C (p.Gly1036=) n.2564G>C c.341G>C c.2784G>C (p.Gly928=) c.681G>C (p.Gly227=) c.3123G>C (p.Gly1041=) c.1443G>C (p.Gly481=) | |
| X | g.108626211G= | CA2450698063 | COL4A5 | c.3108G= (p.Gly1036=) n.2564G= c.341G= c.2784G= (p.Gly928=) c.681G= (p.Gly227=) c.3123G= (p.Gly1041=) c.1443G= (p.Gly481=) | |
| X | g.108626211G>T | CA517925551 | COL4A5 | c.3108G>T (p.Gly1036=) n.2564G>T c.341G>T c.2784G>T (p.Gly928=) c.681G>T (p.Gly227=) c.3123G>T (p.Gly1041=) c.1443G>T (p.Gly481=) | COSMIC COSMIC |
| X | g.108626212C>A | CA413854844 | COL4A5 | c.3109C>A (p.Pro1037Thr) n.2565C>A c.342C>A c.2785C>A (p.Pro929Thr) c.682C>A (p.Pro228Thr) c.3124C>A (p.Pro1042Thr) c.1444C>A (p.Pro482Thr) | |
| X | g.108626212C= | CA2450698064 | COL4A5 | c.3109C= (p.Pro1037=) n.2565C= c.342C= c.2785C= (p.Pro929=) c.682C= (p.Pro228=) c.3124C= (p.Pro1042=) c.1444C= (p.Pro482=) | |
| X | g.108626212C>G | CA413854845 | COL4A5 | c.3109C>G (p.Pro1037Ala) n.2565C>G c.342C>G c.2785C>G (p.Pro929Ala) c.682C>G (p.Pro228Ala) c.3124C>G (p.Pro1042Ala) c.1444C>G (p.Pro482Ala) | |
| X | g.108626212C>T | CA413854846 | COL4A5 | c.3109C>T (p.Pro1037Ser) n.2565C>T c.342C>T c.2785C>T (p.Pro929Ser) c.682C>T (p.Pro228Ser) c.3124C>T (p.Pro1042Ser) c.1444C>T (p.Pro482Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108626213C>A | CA413854847 | COL4A5 | c.3110C>A (p.Pro1037His) n.2566C>A c.343C>A c.2786C>A (p.Pro929His) c.683C>A (p.Pro228His) c.3125C>A (p.Pro1042His) c.1445C>A (p.Pro482His) | |
| X | g.108626213C>G | CA413854848 | COL4A5 | c.3110C>G (p.Pro1037Arg) n.2566C>G c.343C>G c.2786C>G (p.Pro929Arg) c.683C>G (p.Pro228Arg) c.3125C>G (p.Pro1042Arg) c.1445C>G (p.Pro482Arg) | |
| X | g.108626213C>T | CA413854849 | COL4A5 | c.3110C>T (p.Pro1037Leu) n.2566C>T c.343C>T c.2786C>T (p.Pro929Leu) c.683C>T (p.Pro228Leu) c.3125C>T (p.Pro1042Leu) c.1445C>T (p.Pro482Leu) | |
| 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.108626214T>A | CA517925563 | COL4A5 | c.3111T>A (p.Pro1037=) n.2567T>A c.344T>A c.2787T>A (p.Pro929=) c.684T>A (p.Pro228=) c.3126T>A (p.Pro1042=) c.1446T>A (p.Pro482=) | |
| X | g.108626214T>C | CA517925565 | COL4A5 | c.3111T>C (p.Pro1037=) n.2567T>C c.344T>C c.2787T>C (p.Pro929=) c.684T>C (p.Pro228=) c.3126T>C (p.Pro1042=) c.1446T>C (p.Pro482=) | |
| X | g.108626214T>G | CA517925567 | COL4A5 | c.3111T>G (p.Pro1037=) n.2567T>G c.344T>G c.2787T>G (p.Pro929=) c.684T>G (p.Pro228=) c.3126T>G (p.Pro1042=) c.1446T>G (p.Pro482=) | |
| 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) |