Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | ClinVar |
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.108626219dup | CA2838838887 | COL4A5 | c.3116dup (p.Val1040CysfsTer28) n.2572dup c.349dup c.2792dup (p.Val932CysfsTer28) c.689dup (p.Val231CysfsTer28) c.3131dup (p.Val1045CysfsTer28) c.1451dup (p.Val485CysfsTer28) | |
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) | ClinVar 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) | ClinVar |
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 |
X | g.108626229G>C | CA517925652 | COL4A5 | c.3126G>C (p.Gly1042=) n.2582G>C c.359G>C c.2802G>C (p.Gly934=) c.699G>C (p.Gly233=) c.3141G>C (p.Gly1047=) c.1461G>C (p.Gly487=) | |
X | g.108626229G>T | CA517925649 | COL4A5 | c.3126G>T (p.Gly1042=) n.2582G>T c.359G>T c.2802G>T (p.Gly934=) c.699G>T (p.Gly233=) c.3141G>T (p.Gly1047=) c.1461G>T (p.Gly487=) | |
X | g.108626230C>A | CA413854885 | COL4A5 | c.3127C>A (p.Pro1043Thr) n.2583C>A c.360C>A c.2803C>A (p.Pro935Thr) c.700C>A (p.Pro234Thr) c.3142C>A (p.Pro1048Thr) c.1462C>A (p.Pro488Thr) | |
X | g.108626230C>G | CA413854884 | COL4A5 | c.3127C>G (p.Pro1043Ala) n.2583C>G c.360C>G c.2803C>G (p.Pro935Ala) c.700C>G (p.Pro234Ala) c.3142C>G (p.Pro1048Ala) c.1462C>G (p.Pro488Ala) | |
X | g.108626230C>T | CA413854883 | COL4A5 | c.3127C>T (p.Pro1043Ser) n.2583C>T c.360C>T c.2803C>T (p.Pro935Ser) c.700C>T (p.Pro234Ser) c.3142C>T (p.Pro1048Ser) c.1462C>T (p.Pro488Ser) | |
X | g.108626231C>A | CA413854888 | COL4A5 | c.3128C>A (p.Pro1043His) n.2584C>A c.361C>A c.2804C>A (p.Pro935His) c.701C>A (p.Pro234His) c.3143C>A (p.Pro1048His) c.1463C>A (p.Pro488His) | |
X | g.108626231C>G | CA413854886 | COL4A5 | c.3128C>G (p.Pro1043Arg) n.2584C>G c.361C>G c.2804C>G (p.Pro935Arg) c.701C>G (p.Pro234Arg) c.3143C>G (p.Pro1048Arg) c.1463C>G (p.Pro488Arg) | |
X | g.108626231C>T | CA413854887 | COL4A5 | c.3128C>T (p.Pro1043Leu) n.2584C>T c.361C>T c.2804C>T (p.Pro935Leu) c.701C>T (p.Pro234Leu) c.3143C>T (p.Pro1048Leu) c.1463C>T (p.Pro488Leu) | |
X | g.108626231_108626237del | CA2739273703 | COL4A5 | c.3128_3134del (p.Pro1043HisfsTer?) n.2584_2590del c.361_367del c.2804_2810del (p.Pro935HisfsTer?) c.701_707del (p.Pro234HisfsTer?) c.3143_3149del (p.Pro1048HisfsTer?) c.1463_1469del (p.Pro488HisfsTer?) | ClinVar |
X | g.108626232T>A | CA517925673 | COL4A5 | c.3129T>A (p.Pro1043=) n.2585T>A c.362T>A c.2805T>A (p.Pro935=) c.702T>A (p.Pro234=) c.3144T>A (p.Pro1048=) c.1464T>A (p.Pro488=) | |
X | g.108626232T>C | CA517925674 | COL4A5 | c.3129T>C (p.Pro1043=) n.2585T>C c.362T>C c.2805T>C (p.Pro935=) c.702T>C (p.Pro234=) c.3144T>C (p.Pro1048=) c.1464T>C (p.Pro488=) | |
X | g.108626232T>G | CA517925675 | COL4A5 | c.3129T>G (p.Pro1043=) n.2585T>G c.362T>G c.2805T>G (p.Pro935=) c.702T>G (p.Pro234=) c.3144T>G (p.Pro1048=) c.1464T>G (p.Pro488=) | |
X | g.108626233C>A | CA413854889 | COL4A5 | c.3130C>A (p.Pro1044Thr) n.2586C>A c.363C>A c.2806C>A (p.Pro936Thr) c.703C>A (p.Pro235Thr) c.3145C>A (p.Pro1049Thr) c.1465C>A (p.Pro489Thr) | |
X | g.108626233C>G | CA413854890 | COL4A5 | c.3130C>G (p.Pro1044Ala) n.2586C>G c.363C>G c.2806C>G (p.Pro936Ala) c.703C>G (p.Pro235Ala) c.3145C>G (p.Pro1049Ala) c.1465C>G (p.Pro489Ala) | |
X | g.108626233C>T | CA413854891 | COL4A5 | c.3130C>T (p.Pro1044Ser) n.2586C>T c.363C>T c.2806C>T (p.Pro936Ser) c.703C>T (p.Pro235Ser) c.3145C>T (p.Pro1049Ser) c.1465C>T (p.Pro489Ser) | COSMIC |
X | g.108626234C>A | CA413854894 | COL4A5 | c.3131C>A (p.Pro1044His) n.2587C>A c.364C>A c.2807C>A (p.Pro936His) c.704C>A (p.Pro235His) c.3146C>A (p.Pro1049His) c.1466C>A (p.Pro489His) | |
X | g.108626234C>G | CA413854893 | COL4A5 | c.3131C>G (p.Pro1044Arg) n.2587C>G c.364C>G c.2807C>G (p.Pro936Arg) c.704C>G (p.Pro235Arg) c.3146C>G (p.Pro1049Arg) c.1466C>G (p.Pro489Arg) | |
X | g.108626234C>T | CA413854892 | COL4A5 | c.3131C>T (p.Pro1044Leu) n.2587C>T c.364C>T c.2807C>T (p.Pro936Leu) c.704C>T (p.Pro235Leu) c.3146C>T (p.Pro1049Leu) c.1466C>T (p.Pro489Leu) | |
X | g.108626239_108626247del | CA2694440644 | COL4A5 | c.3136_3144del (p.Pro1046_Gly1048del) n.2592_2600del c.369_377del c.2812_2820del (p.Pro938_Gly940del) c.709_717del (p.Pro237_Gly239del) c.3151_3159del (p.Pro1051_Gly1053del) c.1471_1479del (p.Pro491_Gly493del) | gnomAD v4 |
X | g.108626235T>A | CA517925694 | COL4A5 | c.3132T>A (p.Pro1044=) n.2588T>A c.365T>A c.2808T>A (p.Pro936=) c.705T>A (p.Pro235=) c.3147T>A (p.Pro1049=) c.1467T>A (p.Pro489=) | |
X | g.108626235T>C | CA517925701 | COL4A5 | c.3132T>C (p.Pro1044=) n.2588T>C c.365T>C c.2808T>C (p.Pro936=) c.705T>C (p.Pro235=) c.3147T>C (p.Pro1049=) c.1467T>C (p.Pro489=) | |
X | g.108626235T>G | CA517925695 | COL4A5 | c.3132T>G (p.Pro1044=) n.2588T>G c.365T>G c.2808T>G (p.Pro936=) c.705T>G (p.Pro235=) c.3147T>G (p.Pro1049=) c.1467T>G (p.Pro489=) | |
X | g.108626235dup | CA2695235757 | COL4A5 | c.3132dup (p.Gly1045TrpfsTer23) n.2588dup c.365dup c.2808dup (p.Gly937TrpfsTer23) c.705dup (p.Gly236TrpfsTer23) c.3147dup (p.Gly1050TrpfsTer23) c.1467dup (p.Gly490TrpfsTer23) | |
X | g.108626236G>A | CA413854895 | COL4A5 | c.3133G>A (p.Gly1045Arg) n.2589G>A c.366G>A c.2809G>A (p.Gly937Arg) c.706G>A (p.Gly236Arg) c.3148G>A (p.Gly1050Arg) c.1468G>A (p.Gly490Arg) | |
X | g.108626236G>C | CA413854896 | COL4A5 | c.3133G>C (p.Gly1045Arg) n.2589G>C c.366G>C c.2809G>C (p.Gly937Arg) c.706G>C (p.Gly236Arg) c.3148G>C (p.Gly1050Arg) c.1468G>C (p.Gly490Arg) | |
X | g.108626236G>T | CA413854897 | COL4A5 | c.3133G>T (p.Gly1045Ter) n.2589G>T c.366G>T c.2809G>T (p.Gly937Ter) c.706G>T (p.Gly236Ter) c.3148G>T (p.Gly1050Ter) c.1468G>T (p.Gly490Ter) | |
X | g.108626237G>A | CA258810 | COL4A5 | c.3134G>A (p.Gly1045Glu) n.2590G>A c.367G>A c.2810G>A (p.Gly937Glu) c.707G>A (p.Gly236Glu) c.3149G>A (p.Gly1050Glu) c.1469G>A (p.Gly490Glu) | dbSNP |
X | g.108626237G>C | CA413854898 | COL4A5 | c.3134G>C (p.Gly1045Ala) n.2590G>C c.367G>C c.2810G>C (p.Gly937Ala) c.707G>C (p.Gly236Ala) c.3149G>C (p.Gly1050Ala) c.1469G>C (p.Gly490Ala) | |
X | g.108626237G= | CA2450698070 | COL4A5 | c.3134G= (p.Gly1045=) n.2590G= c.367G= c.2810G= (p.Gly937=) c.707G= (p.Gly236=) c.3149G= (p.Gly1050=) c.1469G= (p.Gly490=) | |
X | g.108626237G>T | CA413854899 | COL4A5 | c.3134G>T (p.Gly1045Val) n.2590G>T c.367G>T c.2810G>T (p.Gly937Val) c.707G>T (p.Gly236Val) c.3149G>T (p.Gly1050Val) c.1469G>T (p.Gly490Val) | |
X | g.108626238A>C | CA517925725 | COL4A5 | c.3135A>C (p.Gly1045=) n.2591A>C c.368A>C c.2811A>C (p.Gly937=) c.708A>C (p.Gly236=) c.3150A>C (p.Gly1050=) c.1470A>C (p.Gly490=) | |
X | g.108626238A>G | CA517925722 | COL4A5 | c.3135A>G (p.Gly1045=) n.2591A>G c.368A>G c.2811A>G (p.Gly937=) c.708A>G (p.Gly236=) c.3150A>G (p.Gly1050=) c.1470A>G (p.Gly490=) | ClinVar dbSNP gnomAD v4 |
X | g.108626238A>T | CA517925720 | COL4A5 | c.3135A>T (p.Gly1045=) n.2591A>T c.368A>T c.2811A>T (p.Gly937=) c.708A>T (p.Gly236=) c.3150A>T (p.Gly1050=) c.1470A>T (p.Gly490=) | |
X | g.108626239C>A | CA413854900 | COL4A5 | c.3136C>A (p.Pro1046Thr) n.2592C>A c.369C>A c.2812C>A (p.Pro938Thr) c.709C>A (p.Pro237Thr) c.3151C>A (p.Pro1051Thr) c.1471C>A (p.Pro491Thr) | |
X | g.108626239C>G | CA413854902 | COL4A5 | c.3136C>G (p.Pro1046Ala) n.2592C>G c.369C>G c.2812C>G (p.Pro938Ala) c.709C>G (p.Pro237Ala) c.3151C>G (p.Pro1051Ala) c.1471C>G (p.Pro491Ala) | |
X | g.108626239C>T | CA413854901 | COL4A5 | c.3136C>T (p.Pro1046Ser) n.2592C>T c.369C>T c.2812C>T (p.Pro938Ser) c.709C>T (p.Pro237Ser) c.3151C>T (p.Pro1051Ser) c.1471C>T (p.Pro491Ser) | |
X | g.108626240C>A | CA413854903 | COL4A5 | c.3137C>A (p.Pro1046His) n.2593C>A c.370C>A c.2813C>A (p.Pro938His) c.710C>A (p.Pro237His) c.3152C>A (p.Pro1051His) c.1472C>A (p.Pro491His) | |
X | g.108626240C>G | CA413854904 | COL4A5 | c.3137C>G (p.Pro1046Arg) n.2593C>G c.370C>G c.2813C>G (p.Pro938Arg) c.710C>G (p.Pro237Arg) c.3152C>G (p.Pro1051Arg) c.1472C>G (p.Pro491Arg) | |
X | g.108626240C>T | CA413854905 | COL4A5 | c.3137C>T (p.Pro1046Leu) n.2593C>T c.370C>T c.2813C>T (p.Pro938Leu) c.710C>T (p.Pro237Leu) c.3152C>T (p.Pro1051Leu) c.1472C>T (p.Pro491Leu) | |
X | g.108626241T>A | CA517925734 | COL4A5 | c.3138T>A (p.Pro1046=) n.2594T>A c.371T>A c.2814T>A (p.Pro938=) c.711T>A (p.Pro237=) c.3153T>A (p.Pro1051=) c.1473T>A (p.Pro491=) | |
X | g.108626241T>C | CA517925740 | COL4A5 | c.3138T>C (p.Pro1046=) n.2594T>C c.371T>C c.2814T>C (p.Pro938=) c.711T>C (p.Pro237=) c.3153T>C (p.Pro1051=) c.1473T>C (p.Pro491=) | |
X | g.108626241T>G | CA517925737 | COL4A5 | c.3138T>G (p.Pro1046=) n.2594T>G c.371T>G c.2814T>G (p.Pro938=) c.711T>G (p.Pro237=) c.3153T>G (p.Pro1051=) c.1473T>G (p.Pro491=) | |
X | g.108626242T>A | CA413854906 | COL4A5 | c.3139T>A (p.Ser1047Thr) n.2595T>A c.372T>A c.2815T>A (p.Ser939Thr) c.712T>A (p.Ser238Thr) c.3154T>A (p.Ser1052Thr) c.1474T>A (p.Ser492Thr) | |
X | g.108626242T>C | CA413854907 | COL4A5 | c.3139T>C (p.Ser1047Pro) n.2595T>C c.372T>C c.2815T>C (p.Ser939Pro) c.712T>C (p.Ser238Pro) c.3154T>C (p.Ser1052Pro) c.1474T>C (p.Ser492Pro) | |
X | g.108626242T>G | CA413854908 | COL4A5 | c.3139T>G (p.Ser1047Ala) n.2595T>G c.372T>G c.2815T>G (p.Ser939Ala) c.712T>G (p.Ser238Ala) c.3154T>G (p.Ser1052Ala) c.1474T>G (p.Ser492Ala) | |
X | g.108626243del | CA2695235758 | COL4A5 | c.3140del (p.Ser1047LeufsTer?) n.2596del c.373del c.2816del (p.Ser939LeufsTer?) c.713del (p.Ser238LeufsTer?) c.3155del (p.Ser1052LeufsTer?) c.1475del (p.Ser492LeufsTer?) | |
X | g.108626243C>A | CA413854909 | COL4A5 | c.3140C>A (p.Ser1047Tyr) n.2596C>A c.373C>A c.2816C>A (p.Ser939Tyr) c.713C>A (p.Ser238Tyr) c.3155C>A (p.Ser1052Tyr) c.1475C>A (p.Ser492Tyr) | |
X | g.108626243C>G | CA413854910 | COL4A5 | c.3140C>G (p.Ser1047Cys) n.2596C>G c.373C>G c.2816C>G (p.Ser939Cys) c.713C>G (p.Ser238Cys) c.3155C>G (p.Ser1052Cys) c.1475C>G (p.Ser492Cys) | |
X | g.108626243C>T | CA413854911 | COL4A5 | c.3140C>T (p.Ser1047Phe) n.2596C>T c.373C>T c.2816C>T (p.Ser939Phe) c.713C>T (p.Ser238Phe) c.3155C>T (p.Ser1052Phe) c.1475C>T (p.Ser492Phe) | |
X | g.108626244T>A | CA517925756 | COL4A5 | c.3141T>A (p.Ser1047=) n.2597T>A c.374T>A c.2817T>A (p.Ser939=) c.714T>A (p.Ser238=) c.3156T>A (p.Ser1052=) c.1476T>A (p.Ser492=) | |
X | g.108626244T>C | CA517925757 | COL4A5 | c.3141T>C (p.Ser1047=) n.2597T>C c.374T>C c.2817T>C (p.Ser939=) c.714T>C (p.Ser238=) c.3156T>C (p.Ser1052=) c.1476T>C (p.Ser492=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108626244T>G | CA517925758 | COL4A5 | c.3141T>G (p.Ser1047=) n.2597T>G c.374T>G c.2817T>G (p.Ser939=) c.714T>G (p.Ser238=) c.3156T>G (p.Ser1052=) c.1476T>G (p.Ser492=) | |
X | g.108626244T= | CA2450698071 | COL4A5 | c.3141T= (p.Ser1047=) n.2597T= c.374T= c.2817T= (p.Ser939=) c.714T= (p.Ser238=) c.3156T= (p.Ser1052=) c.1476T= (p.Ser492=) | |
X | g.108626245G>A | CA413854912 | COL4A5 | c.3142G>A (p.Gly1048Arg) n.2598G>A c.375G>A c.2818G>A (p.Gly940Arg) c.715G>A (p.Gly239Arg) c.3157G>A (p.Gly1053Arg) c.1477G>A (p.Gly493Arg) | ClinVar |
X | g.108626245G>C | CA413854913 | COL4A5 | c.3142G>C (p.Gly1048Arg) n.2598G>C c.375G>C c.2818G>C (p.Gly940Arg) c.715G>C (p.Gly239Arg) c.3157G>C (p.Gly1053Arg) c.1477G>C (p.Gly493Arg) | |
X | g.108626245G>T | CA413854914 | COL4A5 | c.3142G>T (p.Gly1048Ter) n.2598G>T c.375G>T c.2818G>T (p.Gly940Ter) c.715G>T (p.Gly239Ter) c.3157G>T (p.Gly1053Ter) c.1477G>T (p.Gly493Ter) | |
X | g.108626246G>A | CA413854916 | COL4A5 | c.3143G>A (p.Gly1048Glu) n.2599G>A c.376G>A c.2819G>A (p.Gly940Glu) c.716G>A (p.Gly239Glu) c.3158G>A (p.Gly1053Glu) c.1478G>A (p.Gly493Glu) | |
X | g.108626246G>C | CA413854917 | COL4A5 | c.3143G>C (p.Gly1048Ala) n.2599G>C c.376G>C c.2819G>C (p.Gly940Ala) c.716G>C (p.Gly239Ala) c.3158G>C (p.Gly1053Ala) c.1478G>C (p.Gly493Ala) | |
X | g.108626246G>T | CA413854915 | COL4A5 | c.3143G>T (p.Gly1048Val) n.2599G>T c.376G>T c.2819G>T (p.Gly940Val) c.716G>T (p.Gly239Val) c.3158G>T (p.Gly1053Val) c.1478G>T (p.Gly493Val) | |
X | g.108626247A>C | CA517925765 | COL4A5 | c.3144A>C (p.Gly1048=) n.2600A>C c.377A>C c.2820A>C (p.Gly940=) c.717A>C (p.Gly239=) c.3159A>C (p.Gly1053=) c.1479A>C (p.Gly493=) | |
X | g.108626247A>G | CA517925767 | COL4A5 | c.3144A>G (p.Gly1048=) n.2600A>G c.377A>G c.2820A>G (p.Gly940=) c.717A>G (p.Gly239=) c.3159A>G (p.Gly1053=) c.1479A>G (p.Gly493=) | |
X | g.108626247A>T | CA517925769 | COL4A5 | c.3144A>T (p.Gly1048=) n.2600A>T c.377A>T c.2820A>T (p.Gly940=) c.717A>T (p.Gly239=) c.3159A>T (p.Gly1053=) c.1479A>T (p.Gly493=) | |
X | g.108626248G>A | CA413854918 | COL4A5 | c.3145G>A (p.Val1049Ile) n.2601G>A c.378G>A c.2821G>A (p.Val941Ile) c.718G>A (p.Val240Ile) c.3160G>A (p.Val1054Ile) c.1480G>A (p.Val494Ile) | gnomAD v4 |
X | g.108626248G>C | CA413854920 | COL4A5 | c.3145G>C (p.Val1049Leu) n.2601G>C c.378G>C c.2821G>C (p.Val941Leu) c.718G>C (p.Val240Leu) c.3160G>C (p.Val1054Leu) c.1480G>C (p.Val494Leu) | |
X | g.108626248G>T | CA413854919 | COL4A5 | c.3145G>T (p.Val1049Phe) n.2601G>T c.378G>T c.2821G>T (p.Val941Phe) c.718G>T (p.Val240Phe) c.3160G>T (p.Val1054Phe) c.1480G>T (p.Val494Phe) | |
X | g.108626249T>A | CA413854921 | COL4A5 | c.3146T>A (p.Val1049Asp) n.2602T>A c.379T>A c.2822T>A (p.Val941Asp) c.719T>A (p.Val240Asp) c.3161T>A (p.Val1054Asp) c.1481T>A (p.Val494Asp) | |
X | g.108626249T>C | CA413854922 | COL4A5 | c.3146T>C (p.Val1049Ala) n.2602T>C c.379T>C c.2822T>C (p.Val941Ala) c.719T>C (p.Val240Ala) c.3161T>C (p.Val1054Ala) c.1481T>C (p.Val494Ala) | |
X | g.108626249T>G | CA413854923 | COL4A5 | c.3146T>G (p.Val1049Gly) n.2602T>G c.379T>G c.2822T>G (p.Val941Gly) c.719T>G (p.Val240Gly) c.3161T>G (p.Val1054Gly) c.1481T>G (p.Val494Gly) | |
X | g.108626250T>A | CA517925775 | COL4A5 | c.3147T>A (p.Val1049=) n.2603T>A c.380T>A c.2823T>A (p.Val941=) c.720T>A (p.Val240=) c.3162T>A (p.Val1054=) c.1482T>A (p.Val494=) | |
X | g.108626250T>C | CA517925777 | COL4A5 | c.3147T>C (p.Val1049=) n.2603T>C c.380T>C c.2823T>C (p.Val941=) c.720T>C (p.Val240=) c.3162T>C (p.Val1054=) c.1482T>C (p.Val494=) | |
X | g.108626250T>G | CA517925779 | COL4A5 | c.3147T>G (p.Val1049=) n.2603T>G c.380T>G c.2823T>G (p.Val941=) c.720T>G (p.Val240=) c.3162T>G (p.Val1054=) c.1482T>G (p.Val494=) | |
X | g.108626251C>A | CA413854924 | COL4A5 | c.3148C>A (p.Pro1050Thr) n.2604C>A c.381C>A c.2824C>A (p.Pro942Thr) c.721C>A (p.Pro241Thr) c.3163C>A (p.Pro1055Thr) c.1483C>A (p.Pro495Thr) | |
X | g.108626251C= | CA2450698072 | COL4A5 | c.3148C= (p.Pro1050=) n.2604C= c.381C= c.2824C= (p.Pro942=) c.721C= (p.Pro241=) c.3163C= (p.Pro1055=) c.1483C= (p.Pro495=) | |
X | g.108626251C>G | CA10588941 | COL4A5 | c.3148C>G (p.Pro1050Ala) n.2604C>G c.381C>G c.2824C>G (p.Pro942Ala) c.721C>G (p.Pro241Ala) c.3163C>G (p.Pro1055Ala) c.1483C>G (p.Pro495Ala) | ClinVar dbSNP |
X | g.108626251C>T | CA10489039 | COL4A5 | c.3148C>T (p.Pro1050Ser) n.2604C>T c.381C>T c.2824C>T (p.Pro942Ser) c.721C>T (p.Pro241Ser) c.3163C>T (p.Pro1055Ser) c.1483C>T (p.Pro495Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108626252del | CA2579676665 | COL4A5 | c.3149del (p.Pro1050LeufsTer?) n.2605del c.382del c.2825del (p.Pro942LeufsTer?) c.722del (p.Pro241LeufsTer?) c.3164del (p.Pro1055LeufsTer?) c.1484del (p.Pro495LeufsTer?) | |
X | g.108626252C>A | CA413854925 | COL4A5 | c.3149C>A (p.Pro1050His) n.2605C>A c.382C>A c.2825C>A (p.Pro942His) c.722C>A (p.Pro241His) c.3164C>A (p.Pro1055His) c.1484C>A (p.Pro495His) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108626252C= | CA2450698073 | COL4A5 | c.3149C= (p.Pro1050=) n.2605C= c.382C= c.2825C= (p.Pro942=) c.722C= (p.Pro241=) c.3164C= (p.Pro1055=) c.1484C= (p.Pro495=) | |
X | g.108626252C>G | CA413854926 | COL4A5 | c.3149C>G (p.Pro1050Arg) n.2605C>G c.382C>G c.2825C>G (p.Pro942Arg) c.722C>G (p.Pro241Arg) c.3164C>G (p.Pro1055Arg) c.1484C>G (p.Pro495Arg) | dbSNP |
X | g.108626252C>T | CA413854927 | COL4A5 | c.3149C>T (p.Pro1050Leu) n.2605C>T c.382C>T c.2825C>T (p.Pro942Leu) c.722C>T (p.Pro241Leu) c.3164C>T (p.Pro1055Leu) c.1484C>T (p.Pro495Leu) | gnomAD v4 |
X | g.108626253T>A | CA517925786 | COL4A5 | c.3150T>A (p.Pro1050=) n.2606T>A c.383T>A c.2826T>A (p.Pro942=) c.723T>A (p.Pro241=) c.3165T>A (p.Pro1055=) c.1485T>A (p.Pro495=) | |
X | g.108626253T>C | CA517925788 | COL4A5 | c.3150T>C (p.Pro1050=) n.2606T>C c.383T>C c.2826T>C (p.Pro942=) c.723T>C (p.Pro241=) c.3165T>C (p.Pro1055=) c.1485T>C (p.Pro495=) | |
X | g.108626253T>G | CA517925790 | COL4A5 | c.3150T>G (p.Pro1050=) n.2606T>G c.383T>G c.2826T>G (p.Pro942=) c.723T>G (p.Pro241=) c.3165T>G (p.Pro1055=) c.1485T>G (p.Pro495=) | |
X | g.108626254G>A | CA413854928 | COL4A5 | c.3151G>A (p.Gly1051Arg) n.2607G>A c.384G>A c.2827G>A (p.Gly943Arg) c.724G>A (p.Gly242Arg) c.3166G>A (p.Gly1056Arg) c.1486G>A (p.Gly496Arg) | |
X | g.108626254G>C | CA413854929 | COL4A5 | c.3151G>C (p.Gly1051Arg) n.2607G>C c.384G>C c.2827G>C (p.Gly943Arg) c.724G>C (p.Gly242Arg) c.3166G>C (p.Gly1056Arg) c.1486G>C (p.Gly496Arg) | |
X | g.108626254G= | CA2450698074 | COL4A5 | c.3151G= (p.Gly1051=) n.2607G= c.384G= c.2827G= (p.Gly943=) c.724G= (p.Gly242=) c.3166G= (p.Gly1056=) c.1486G= (p.Gly496=) | |
X | g.108626254G>T | CA413854930 | COL4A5 | c.3151G>T (p.Gly1051Ter) n.2607G>T c.384G>T c.2827G>T (p.Gly943Ter) c.724G>T (p.Gly242Ter) c.3166G>T (p.Gly1056Ter) c.1486G>T (p.Gly496Ter) | ClinVar dbSNP |
X | g.108626255G>A | CA413854933 | COL4A5 | c.3152G>A (p.Gly1051Glu) n.2608G>A c.385G>A c.2828G>A (p.Gly943Glu) c.725G>A (p.Gly242Glu) c.3167G>A (p.Gly1056Glu) c.1487G>A (p.Gly496Glu) | ClinVar dbSNP |
X | g.108626255G>C | CA413854931 | COL4A5 | c.3152G>C (p.Gly1051Ala) n.2608G>C c.385G>C c.2828G>C (p.Gly943Ala) c.725G>C (p.Gly242Ala) c.3167G>C (p.Gly1056Ala) c.1487G>C (p.Gly496Ala) | |
X | g.108626255G= | CA2450698075 | COL4A5 | c.3152G= (p.Gly1051=) n.2608G= c.385G= c.2828G= (p.Gly943=) c.725G= (p.Gly242=) c.3167G= (p.Gly1056=) c.1487G= (p.Gly496=) | |
X | g.108626255G>T | CA413854932 | COL4A5 | c.3152G>T (p.Gly1051Val) n.2608G>T c.385G>T c.2828G>T (p.Gly943Val) c.725G>T (p.Gly242Val) c.3167G>T (p.Gly1056Val) c.1487G>T (p.Gly496Val) | ClinVar dbSNP |
X | g.108626256A>C | CA517925793 | COL4A5 | c.3153A>C (p.Gly1051=) n.2609A>C c.386A>C c.2829A>C (p.Gly943=) c.726A>C (p.Gly242=) c.3168A>C (p.Gly1056=) c.1488A>C (p.Gly496=) | |
X | g.108626256A>G | CA517925796 | COL4A5 | c.3153A>G (p.Gly1051=) n.2609A>G c.386A>G c.2829A>G (p.Gly943=) c.726A>G (p.Gly242=) c.3168A>G (p.Gly1056=) c.1488A>G (p.Gly496=) | |
X | g.108626256A>T | CA517925795 | COL4A5 | c.3153A>T (p.Gly1051=) n.2609A>T c.386A>T c.2829A>T (p.Gly943=) c.726A>T (p.Gly242=) c.3168A>T (p.Gly1056=) c.1488A>T (p.Gly496=) | |
X | g.108626257C>A | CA413854934 | COL4A5 | c.3154C>A (p.Gln1052Lys) n.2610C>A c.387C>A c.2830C>A (p.Gln944Lys) c.727C>A (p.Gln243Lys) c.3169C>A (p.Gln1057Lys) c.1489C>A (p.Gln497Lys) | |
X | g.108626257C= | CA2450698076 | COL4A5 | c.3154C= (p.Gln1052=) n.2610C= c.387C= c.2830C= (p.Gln944=) c.727C= (p.Gln243=) c.3169C= (p.Gln1057=) c.1489C= (p.Gln497=) | |
X | g.108626257C>G | CA413854935 | COL4A5 | c.3154C>G (p.Gln1052Glu) n.2610C>G c.387C>G c.2830C>G (p.Gln944Glu) c.727C>G (p.Gln243Glu) c.3169C>G (p.Gln1057Glu) c.1489C>G (p.Gln497Glu) | |
X | g.108626257C>T | CA413854936 | COL4A5 | c.3154C>T (p.Gln1052Ter) n.2610C>T c.387C>T c.2830C>T (p.Gln944Ter) c.727C>T (p.Gln243Ter) c.3169C>T (p.Gln1057Ter) c.1489C>T (p.Gln497Ter) | |
X | g.108626258A= | CA2450698077 | COL4A5 | c.3155A= (p.Gln1052=) n.2611A= c.388A= c.2831A= (p.Gln944=) c.728A= (p.Gln243=) c.3170A= (p.Gln1057=) c.1490A= (p.Gln497=) | |
X | g.108626258A>C | CA413854937 | COL4A5 | c.3155A>C (p.Gln1052Pro) n.2611A>C c.388A>C c.2831A>C (p.Gln944Pro) c.728A>C (p.Gln243Pro) c.3170A>C (p.Gln1057Pro) c.1490A>C (p.Gln497Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108626258A>G | CA413854938 | COL4A5 | c.3155A>G (p.Gln1052Arg) n.2611A>G c.388A>G c.2831A>G (p.Gln944Arg) c.728A>G (p.Gln243Arg) c.3170A>G (p.Gln1057Arg) c.1490A>G (p.Gln497Arg) | |
X | g.108626258A>T | CA413854939 | COL4A5 | c.3155A>T (p.Gln1052Leu) n.2611A>T c.388A>T c.2831A>T (p.Gln944Leu) c.728A>T (p.Gln243Leu) c.3170A>T (p.Gln1057Leu) c.1490A>T (p.Gln497Leu) | |
X | g.108626259A>C | CA413854940 | COL4A5 | c.3156A>C (p.Gln1052His) n.2612A>C c.389A>C c.2832A>C (p.Gln944His) c.729A>C (p.Gln243His) c.3171A>C (p.Gln1057His) c.1491A>C (p.Gln497His) | COSMIC COSMIC |
X | g.108626259A>G | CA517925810 | COL4A5 | c.3156A>G (p.Gln1052=) n.2612A>G c.389A>G c.2832A>G (p.Gln944=) c.729A>G (p.Gln243=) c.3171A>G (p.Gln1057=) c.1491A>G (p.Gln497=) | ClinVar gnomAD v4 |
X | g.108626259A>T | CA413854941 | COL4A5 | c.3156A>T (p.Gln1052His) n.2612A>T c.389A>T c.2832A>T (p.Gln944His) c.729A>T (p.Gln243His) c.3171A>T (p.Gln1057His) c.1491A>T (p.Gln497His) | |
X | g.108626260C>A | CA413854942 | COL4A5 | c.3157C>A (p.Pro1053Thr) n.2613C>A c.390C>A c.2833C>A (p.Pro945Thr) c.730C>A (p.Pro244Thr) c.3172C>A (p.Pro1058Thr) c.1492C>A (p.Pro498Thr) | |
X | g.108626260C= | CA2450698078 | COL4A5 | c.3157C= (p.Pro1053=) n.2613C= c.390C= c.2833C= (p.Pro945=) c.730C= (p.Pro244=) c.3172C= (p.Pro1058=) c.1492C= (p.Pro498=) | |
X | g.108626260C>G | CA413854943 | COL4A5 | c.3157C>G (p.Pro1053Ala) n.2613C>G c.390C>G c.2833C>G (p.Pro945Ala) c.730C>G (p.Pro244Ala) c.3172C>G (p.Pro1058Ala) c.1492C>G (p.Pro498Ala) | |
X | g.108626260C>T | CA413854944 | COL4A5 | c.3157C>T (p.Pro1053Ser) n.2613C>T c.390C>T c.2833C>T (p.Pro945Ser) c.730C>T (p.Pro244Ser) c.3172C>T (p.Pro1058Ser) c.1492C>T (p.Pro498Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108626261C>A | CA413854947 | COL4A5 | c.3158C>A (p.Pro1053His) n.2614C>A c.391C>A c.2834C>A (p.Pro945His) c.731C>A (p.Pro244His) c.3173C>A (p.Pro1058His) c.1493C>A (p.Pro498His) | |
X | g.108626261C>G | CA413854946 | COL4A5 | c.3158C>G (p.Pro1053Arg) n.2614C>G c.391C>G c.2834C>G (p.Pro945Arg) c.731C>G (p.Pro244Arg) c.3173C>G (p.Pro1058Arg) c.1493C>G (p.Pro498Arg) | |
X | g.108626261C>T | CA413854945 | COL4A5 | c.3158C>T (p.Pro1053Leu) n.2614C>T c.391C>T c.2834C>T (p.Pro945Leu) c.731C>T (p.Pro244Leu) c.3173C>T (p.Pro1058Leu) c.1493C>T (p.Pro498Leu) | gnomAD v4 |
X | g.108626262T>A | CA517925823 | COL4A5 | c.3159T>A (p.Pro1053=) n.2615T>A c.392T>A c.2835T>A (p.Pro945=) c.732T>A (p.Pro244=) c.3174T>A (p.Pro1058=) c.1494T>A (p.Pro498=) | |
X | g.108626262T>C | CA517925828 | COL4A5 | c.3159T>C (p.Pro1053=) n.2615T>C c.392T>C c.2835T>C (p.Pro945=) c.732T>C (p.Pro244=) c.3174T>C (p.Pro1058=) c.1494T>C (p.Pro498=) | |
X | g.108626262T>G | CA517925825 | COL4A5 | c.3159T>G (p.Pro1053=) n.2615T>G c.392T>G c.2835T>G (p.Pro945=) c.732T>G (p.Pro244=) c.3174T>G (p.Pro1058=) c.1494T>G (p.Pro498=) | |
X | g.108626263G>A | CA413854948 | COL4A5 | c.3160G>A (p.Gly1054Ser) n.2616G>A c.393G>A c.2836G>A (p.Gly946Ser) c.733G>A (p.Gly245Ser) c.3175G>A (p.Gly1059Ser) c.1495G>A (p.Gly499Ser) | |
X | g.108626263G>C | CA413854949 | COL4A5 | c.3160G>C (p.Gly1054Arg) n.2616G>C c.393G>C c.2836G>C (p.Gly946Arg) c.733G>C (p.Gly245Arg) c.3175G>C (p.Gly1059Arg) c.1495G>C (p.Gly499Arg) | |
X | g.108626263G>T | CA413854950 | COL4A5 | c.3160G>T (p.Gly1054Cys) n.2616G>T c.393G>T c.2836G>T (p.Gly946Cys) c.733G>T (p.Gly245Cys) c.3175G>T (p.Gly1059Cys) c.1495G>T (p.Gly499Cys) | |
X | g.108626264G>A | CA413854951 | COL4A5 | c.3161G>A (p.Gly1054Asp) n.2617G>A c.394G>A c.2837G>A (p.Gly946Asp) c.734G>A (p.Gly245Asp) c.3176G>A (p.Gly1059Asp) c.1496G>A (p.Gly499Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108626264G>C | CA413854952 | COL4A5 | c.3161G>C (p.Gly1054Ala) n.2617G>C c.394G>C c.2837G>C (p.Gly946Ala) c.734G>C (p.Gly245Ala) c.3176G>C (p.Gly1059Ala) c.1496G>C (p.Gly499Ala) | |
X | g.108626264G= | CA2450698079 | COL4A5 | c.3161G= (p.Gly1054=) n.2617G= c.394G= c.2837G= (p.Gly946=) c.734G= (p.Gly245=) c.3176G= (p.Gly1059=) c.1496G= (p.Gly499=) | |
X | g.108626264G>T | CA413854953 | COL4A5 | c.3161G>T (p.Gly1054Val) n.2617G>T c.394G>T c.2837G>T (p.Gly946Val) c.734G>T (p.Gly245Val) c.3176G>T (p.Gly1059Val) c.1496G>T (p.Gly499Val) | |
X | g.108626265C>A | CA517925832 | COL4A5 | c.3162C>A (p.Gly1054=) n.2618C>A c.395C>A c.2838C>A (p.Gly946=) c.735C>A (p.Gly245=) c.3177C>A (p.Gly1059=) c.1497C>A (p.Gly499=) | |
X | g.108626265C= | CA2450698080 | COL4A5 | c.3162C= (p.Gly1054=) n.2618C= c.395C= c.2838C= (p.Gly946=) c.735C= (p.Gly245=) c.3177C= (p.Gly1059=) c.1497C= (p.Gly499=) | |
X | g.108626265C>G | CA517925834 | COL4A5 | c.3162C>G (p.Gly1054=) n.2618C>G c.395C>G c.2838C>G (p.Gly946=) c.735C>G (p.Gly245=) c.3177C>G (p.Gly1059=) c.1497C>G (p.Gly499=) | gnomAD v4 |
X | g.108626265C>T | CA517925836 | COL4A5 | c.3162C>T (p.Gly1054=) n.2618C>T c.395C>T c.2838C>T (p.Gly946=) c.735C>T (p.Gly245=) c.3177C>T (p.Gly1059=) c.1497C>T (p.Gly499=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108626266T>A | CA413854954 | COL4A5 | c.3163T>A (p.Ser1055Thr) n.2619T>A c.396T>A c.2839T>A (p.Ser947Thr) c.736T>A (p.Ser246Thr) c.3178T>A (p.Ser1060Thr) c.1498T>A (p.Ser500Thr) | |
X | g.108626266T>C | CA413854955 | COL4A5 | c.3163T>C (p.Ser1055Pro) n.2619T>C c.396T>C c.2839T>C (p.Ser947Pro) c.736T>C (p.Ser246Pro) c.3178T>C (p.Ser1060Pro) c.1498T>C (p.Ser500Pro) | |
X | g.108626266T>G | CA413854956 | COL4A5 | c.3163T>G (p.Ser1055Ala) n.2619T>G c.396T>G c.2839T>G (p.Ser947Ala) c.736T>G (p.Ser246Ala) c.3178T>G (p.Ser1060Ala) c.1498T>G (p.Ser500Ala) | |
X | g.108626266_108626267delinsTC | CA2450698081 | COL4A5 | c.3163_3164delinsTC (p.Ser1055=) n.2619_2620delinsTC c.396_397delinsTC c.2839_2840delinsTC (p.Ser947=) c.736_737delinsTC (p.Ser246=) c.3178_3179delinsTC (p.Ser1060=) c.1498_1499delinsTC (p.Ser500=) | |
X | g.108626267C>A | CA413854957 | COL4A5 | c.3164C>A (p.Ser1055Tyr) n.2620C>A c.397C>A c.2840C>A (p.Ser947Tyr) c.737C>A (p.Ser246Tyr) c.3179C>A (p.Ser1060Tyr) c.1499C>A (p.Ser500Tyr) | |
X | g.108626267C>G | CA413854958 | COL4A5 | c.3164C>G (p.Ser1055Cys) n.2620C>G c.397C>G c.2840C>G (p.Ser947Cys) c.737C>G (p.Ser246Cys) c.3179C>G (p.Ser1060Cys) c.1499C>G (p.Ser500Cys) | |
X | g.108626267C>T | CA413854959 | COL4A5 | c.3164C>T (p.Ser1055Phe) n.2620C>T c.397C>T c.2840C>T (p.Ser947Phe) c.737C>T (p.Ser246Phe) c.3179C>T (p.Ser1060Phe) c.1499C>T (p.Ser500Phe) | gnomAD v4 COSMIC COSMIC |
X | g.108626270dup | CA2841850840 | COL4A5 | c.3167dup (p.Gly1057ArgfsTer11) n.2623dup c.400dup c.2843dup (p.Gly949ArgfsTer11) c.740dup (p.Gly248ArgfsTer11) c.3182dup (p.Gly1062ArgfsTer11) c.1502dup (p.Gly502ArgfsTer11) | |
X | g.108626270del | CA258812 | COL4A5 | c.3167del (p.Pro1056GlnfsTer?) n.2623del c.400del c.3167del (p.Pro1056GlnfsTer28) c.2843del (p.Pro948GlnfsTer?) c.740del (p.Pro247GlnfsTer?) c.3182del (p.Pro1061GlnfsTer?) c.1502del (p.Pro501GlnfsTer?) | dbSNP |
X | g.108626268C>A | CA517925847 | COL4A5 | c.3165C>A (p.Ser1055=) n.2621C>A c.398C>A c.2841C>A (p.Ser947=) c.738C>A (p.Ser246=) c.3180C>A (p.Ser1060=) c.1500C>A (p.Ser500=) | |
X | g.108626268C>G | CA517925848 | COL4A5 | c.3165C>G (p.Ser1055=) n.2621C>G c.398C>G c.2841C>G (p.Ser947=) c.738C>G (p.Ser246=) c.3180C>G (p.Ser1060=) c.1500C>G (p.Ser500=) | gnomAD v4 COSMIC COSMIC |
X | g.108626268C>T | CA517925850 | COL4A5 | c.3165C>T (p.Ser1055=) n.2621C>T c.398C>T c.2841C>T (p.Ser947=) c.738C>T (p.Ser246=) c.3180C>T (p.Ser1060=) c.1500C>T (p.Ser500=) | COSMIC |
X | g.108626269C>A | CA413854962 | COL4A5 | c.3166C>A (p.Pro1056Thr) n.2622C>A c.399C>A c.2842C>A (p.Pro948Thr) c.739C>A (p.Pro247Thr) c.3181C>A (p.Pro1061Thr) c.1501C>A (p.Pro501Thr) | |
X | g.108626269C>G | CA413854961 | COL4A5 | c.3166C>G (p.Pro1056Ala) n.2622C>G c.399C>G c.2842C>G (p.Pro948Ala) c.739C>G (p.Pro247Ala) c.3181C>G (p.Pro1061Ala) c.1501C>G (p.Pro501Ala) | |
X | g.108626269C>T | CA413854960 | COL4A5 | c.3166C>T (p.Pro1056Ser) n.2622C>T c.399C>T c.2842C>T (p.Pro948Ser) c.739C>T (p.Pro247Ser) c.3181C>T (p.Pro1061Ser) c.1501C>T (p.Pro501Ser) | dbSNP gnomAD v4 |
X | g.108626270C>A | CA413854963 | COL4A5 | c.3167C>A (p.Pro1056Gln) n.2623C>A c.400C>A c.2843C>A (p.Pro948Gln) c.740C>A (p.Pro247Gln) c.3182C>A (p.Pro1061Gln) c.1502C>A (p.Pro501Gln) | |
X | g.108626270C>G | CA413854964 | COL4A5 | c.3167C>G (p.Pro1056Arg) n.2623C>G c.400C>G c.2843C>G (p.Pro948Arg) c.740C>G (p.Pro247Arg) c.3182C>G (p.Pro1061Arg) c.1502C>G (p.Pro501Arg) | |
X | g.108626270C>T | CA413854965 | COL4A5 | c.3167C>T (p.Pro1056Leu) n.2623C>T c.400C>T c.2843C>T (p.Pro948Leu) c.740C>T (p.Pro247Leu) c.3182C>T (p.Pro1061Leu) c.1502C>T (p.Pro501Leu) | gnomAD v4 |
X | g.108626271A>C | CA517925855 | COL4A5 | c.3168A>C (p.Pro1056=) n.2624A>C c.401A>C c.2844A>C (p.Pro948=) c.741A>C (p.Pro247=) c.3183A>C (p.Pro1061=) c.1503A>C (p.Pro501=) | |
X | g.108626271A>G | CA517925857 | COL4A5 | c.3168A>G (p.Pro1056=) n.2624A>G c.401A>G c.2844A>G (p.Pro948=) c.741A>G (p.Pro247=) c.3183A>G (p.Pro1061=) c.1503A>G (p.Pro501=) | |
X | g.108626271A>T | CA517925856 | COL4A5 | c.3168A>T (p.Pro1056=) n.2624A>T c.401A>T c.2844A>T (p.Pro948=) c.741A>T (p.Pro247=) c.3183A>T (p.Pro1061=) c.1503A>T (p.Pro501=) | |
X | g.108626274_108626291dup | CA2695235759 | COL4A5 | c.3171_3188dup (p.Gly1063_Asp1064insLeuProGlyGlnLysGly) n.2627_2644dup c.404_421dup c.2847_2864dup (p.Gly955_Asp956insLeuProGlyGlnLysGly) c.744_761dup (p.Gly254_Asp255insLeuProGlyGlnLysGly) c.3186_3203dup (p.Gly1068_Asp1069insLeuProGlyGlnLysGly) c.1506_1523dup (p.Gly508_Asp509insLeuProGlyGlnLysGly) | |
X | g.108626272G>A | CA413854966 | COL4A5 | c.3169G>A (p.Gly1057Arg) n.2625G>A c.402G>A c.2845G>A (p.Gly949Arg) c.742G>A (p.Gly248Arg) c.3184G>A (p.Gly1062Arg) c.1504G>A (p.Gly502Arg) | COSMIC COSMIC |
X | g.108626272G>C | CA413854967 | COL4A5 | c.3169G>C (p.Gly1057Arg) n.2625G>C c.402G>C c.2845G>C (p.Gly949Arg) c.742G>C (p.Gly248Arg) c.3184G>C (p.Gly1062Arg) c.1504G>C (p.Gly502Arg) | ClinVar |
X | g.108626272G= | CA2450698082 | COL4A5 | c.3169G= (p.Gly1057=) n.2625G= c.402G= c.2845G= (p.Gly949=) c.742G= (p.Gly248=) c.3184G= (p.Gly1062=) c.1504G= (p.Gly502=) | |
X | g.108626272G>T | CA258813 | COL4A5 | c.3169G>T (p.Gly1057Ter) n.2625G>T c.402G>T c.2845G>T (p.Gly949Ter) c.742G>T (p.Gly248Ter) c.3184G>T (p.Gly1062Ter) c.1504G>T (p.Gly502Ter) | dbSNP |
X | g.108626273G>A | CA413854968 | COL4A5 | c.3170G>A (p.Gly1057Glu) n.2626G>A c.403G>A c.2846G>A (p.Gly949Glu) c.743G>A (p.Gly248Glu) c.3185G>A (p.Gly1062Glu) c.1505G>A (p.Gly502Glu) | ClinVar |
X | g.108626273G>C | CA413854969 | COL4A5 | c.3170G>C (p.Gly1057Ala) n.2626G>C c.403G>C c.2846G>C (p.Gly949Ala) c.743G>C (p.Gly248Ala) c.3185G>C (p.Gly1062Ala) c.1505G>C (p.Gly502Ala) | |
X | g.108626273G= | CA2450698083 | COL4A5 | c.3170G= (p.Gly1057=) n.2626G= c.403G= c.2846G= (p.Gly949=) c.743G= (p.Gly248=) c.3185G= (p.Gly1062=) c.1505G= (p.Gly502=) | |
X | g.108626273G>T | CA413854970 | COL4A5 | c.3170G>T (p.Gly1057Val) n.2626G>T c.403G>T c.2846G>T (p.Gly949Val) c.743G>T (p.Gly248Val) c.3185G>T (p.Gly1062Val) c.1505G>T (p.Gly502Val) | ClinVar dbSNP |
X | g.108626274A>C | CA517925870 | COL4A5 | c.3171A>C (p.Gly1057=) n.2627A>C c.404A>C c.2847A>C (p.Gly949=) c.744A>C (p.Gly248=) c.3186A>C (p.Gly1062=) c.1506A>C (p.Gly502=) | |
X | g.108626274A>G | CA517925872 | COL4A5 | c.3171A>G (p.Gly1057=) n.2627A>G c.404A>G c.2847A>G (p.Gly949=) c.744A>G (p.Gly248=) c.3186A>G (p.Gly1062=) c.1506A>G (p.Gly502=) | |
X | g.108626274A>T | CA517925876 | COL4A5 | c.3171A>T (p.Gly1057=) n.2627A>T c.404A>T c.2847A>T (p.Gly949=) c.744A>T (p.Gly248=) c.3186A>T (p.Gly1062=) c.1506A>T (p.Gly502=) | ClinVar |
X | g.108626275T>A | CA10489040 | COL4A5 | c.3172T>A (p.Leu1058Ile) n.2628T>A c.405T>A c.2848T>A (p.Leu950Ile) c.745T>A (p.Leu249Ile) c.3187T>A (p.Leu1063Ile) c.1507T>A (p.Leu503Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108626275T>C | CA517925878 | COL4A5 | c.3172T>C (p.Leu1058=) n.2628T>C c.405T>C c.2848T>C (p.Leu950=) c.745T>C (p.Leu249=) c.3187T>C (p.Leu1063=) c.1507T>C (p.Leu503=) | |
X | g.108626275T>G | CA413854971 | COL4A5 | c.3172T>G (p.Leu1058Val) n.2628T>G c.405T>G c.2848T>G (p.Leu950Val) c.745T>G (p.Leu249Val) c.3187T>G (p.Leu1063Val) c.1507T>G (p.Leu503Val) | |
X | g.108626275T= | CA2450698084 | COL4A5 | c.3172T= (p.Leu1058=) n.2628T= c.405T= c.2848T= (p.Leu950=) c.745T= (p.Leu249=) c.3187T= (p.Leu1063=) c.1507T= (p.Leu503=) | |
X | g.108626276T>A | CA413854974 | COL4A5 | c.3173T>A (p.Leu1058Ter) n.2629T>A c.406T>A c.2849T>A (p.Leu950Ter) c.746T>A (p.Leu249Ter) c.3188T>A (p.Leu1063Ter) c.1508T>A (p.Leu503Ter) | |
X | g.108626276T>C | CA413854973 | COL4A5 | c.3173T>C (p.Leu1058Ser) n.2629T>C c.406T>C c.2849T>C (p.Leu950Ser) c.746T>C (p.Leu249Ser) c.3188T>C (p.Leu1063Ser) c.1508T>C (p.Leu503Ser) | |
X | g.108626276T>G | CA413854972 | COL4A5 | c.3173T>G (p.Leu1058Ter) n.2629T>G c.406T>G c.2849T>G (p.Leu950Ter) c.746T>G (p.Leu249Ter) c.3188T>G (p.Leu1063Ter) c.1508T>G (p.Leu503Ter) | |
X | g.108626277A>C | CA413854975 | COL4A5 | c.3174A>C (p.Leu1058Phe) n.2630A>C c.407A>C c.2850A>C (p.Leu950Phe) c.747A>C (p.Leu249Phe) c.3189A>C (p.Leu1063Phe) c.1509A>C (p.Leu503Phe) | |
X | g.108626277A>G | CA517925885 | COL4A5 | c.3174A>G (p.Leu1058=) n.2630A>G c.407A>G c.2850A>G (p.Leu950=) c.747A>G (p.Leu249=) c.3189A>G (p.Leu1063=) c.1509A>G (p.Leu503=) | |
X | g.108626277A>T | CA413854976 | COL4A5 | c.3174A>T (p.Leu1058Phe) n.2630A>T c.407A>T c.2850A>T (p.Leu950Phe) c.747A>T (p.Leu249Phe) c.3189A>T (p.Leu1063Phe) c.1509A>T (p.Leu503Phe) | |
X | g.108626278C>A | CA413854977 | COL4A5 | c.3175C>A (p.Pro1059Thr) n.2631C>A c.408C>A c.2851C>A (p.Pro951Thr) c.748C>A (p.Pro250Thr) c.3190C>A (p.Pro1064Thr) c.1510C>A (p.Pro504Thr) | gnomAD v4 |
X | g.108626278C>G | CA413854979 | COL4A5 | c.3175C>G (p.Pro1059Ala) n.2631C>G c.408C>G c.2851C>G (p.Pro951Ala) c.748C>G (p.Pro250Ala) c.3190C>G (p.Pro1064Ala) c.1510C>G (p.Pro504Ala) | |
X | g.108626278C>T | CA413854978 | COL4A5 | c.3175C>T (p.Pro1059Ser) n.2631C>T c.408C>T c.2851C>T (p.Pro951Ser) c.748C>T (p.Pro250Ser) c.3190C>T (p.Pro1064Ser) c.1510C>T (p.Pro504Ser) | gnomAD v4 |
X | g.108626279C>A | CA413854980 | COL4A5 | c.3176C>A (p.Pro1059His) n.2632C>A c.409C>A c.2852C>A (p.Pro951His) c.749C>A (p.Pro250His) c.3191C>A (p.Pro1064His) c.1511C>A (p.Pro504His) | |
X | g.108626279C= | CA2450698085 | COL4A5 | c.3176C= (p.Pro1059=) n.2632C= c.409C= c.2852C= (p.Pro951=) c.749C= (p.Pro250=) c.3191C= (p.Pro1064=) c.1511C= (p.Pro504=) | |
X | g.108626279C>G | CA413854981 | COL4A5 | c.3176C>G (p.Pro1059Arg) n.2632C>G c.409C>G c.2852C>G (p.Pro951Arg) c.749C>G (p.Pro250Arg) c.3191C>G (p.Pro1064Arg) c.1511C>G (p.Pro504Arg) | |
X | g.108626279C>T | CA413854982 | COL4A5 | c.3176C>T (p.Pro1059Leu) n.2632C>T c.409C>T c.2852C>T (p.Pro951Leu) c.749C>T (p.Pro250Leu) c.3191C>T (p.Pro1064Leu) c.1511C>T (p.Pro504Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108626279_108626280delinsCT | CA2450698086 | COL4A5 | c.3176_3177delinsCT (p.Pro1059=) n.2632_2633delinsCT c.409_410delinsCT c.2852_2853delinsCT (p.Pro951=) c.749_750delinsCT (p.Pro250=) c.3191_3192delinsCT (p.Pro1064=) c.1511_1512delinsCT (p.Pro504=) | |
X | g.108626280del | CA913190614 | COL4A5 | c.3177del (p.Gly1060AspfsTer?) n.2633del c.410del c.3177del (p.Gly1060AspfsTer24) c.2853del (p.Gly952AspfsTer?) c.750del (p.Gly251AspfsTer?) c.3192del (p.Gly1065AspfsTer?) c.1512del (p.Gly505AspfsTer?) | ClinVar dbSNP |
X | g.108626280T>A | CA517925897 | COL4A5 | c.3177T>A (p.Pro1059=) n.2633T>A c.410T>A c.2853T>A (p.Pro951=) c.750T>A (p.Pro250=) c.3192T>A (p.Pro1064=) c.1512T>A (p.Pro504=) | |
X | g.108626280T>C | CA517925900 | COL4A5 | c.3177T>C (p.Pro1059=) n.2633T>C c.410T>C c.2853T>C (p.Pro951=) c.750T>C (p.Pro250=) c.3192T>C (p.Pro1064=) c.1512T>C (p.Pro504=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108626280T>G | CA517925901 | COL4A5 | c.3177T>G (p.Pro1059=) n.2633T>G c.410T>G c.2853T>G (p.Pro951=) c.750T>G (p.Pro250=) c.3192T>G (p.Pro1064=) c.1512T>G (p.Pro504=) | |
X | g.108626280T= | CA2450698087 | COL4A5 | c.3177T= (p.Pro1059=) n.2633T= c.410T= c.2853T= (p.Pro951=) c.750T= (p.Pro250=) c.3192T= (p.Pro1064=) c.1512T= (p.Pro504=) | |
X | g.108626281G>A | CA413854983 | COL4A5 | c.3178G>A (p.Gly1060Arg) n.2634G>A c.411G>A c.2854G>A (p.Gly952Arg) c.751G>A (p.Gly251Arg) c.3193G>A (p.Gly1065Arg) c.1513G>A (p.Gly505Arg) | |
X | g.108626281G>C | CA413854984 | COL4A5 | c.3178G>C (p.Gly1060Arg) n.2634G>C c.411G>C c.2854G>C (p.Gly952Arg) c.751G>C (p.Gly251Arg) c.3193G>C (p.Gly1065Arg) c.1513G>C (p.Gly505Arg) | |
X | g.108626281G= | CA2450698088 | COL4A5 | c.3178G= (p.Gly1060=) n.2634G= c.411G= c.2854G= (p.Gly952=) c.751G= (p.Gly251=) c.3193G= (p.Gly1065=) c.1513G= (p.Gly505=) | |
X | g.108626281G>T | CA258816 | COL4A5 | c.3178G>T (p.Gly1060Ter) n.2634G>T c.411G>T c.2854G>T (p.Gly952Ter) c.751G>T (p.Gly251Ter) c.3193G>T (p.Gly1065Ter) c.1513G>T (p.Gly505Ter) | ClinVar dbSNP |
X | g.108626282del | CA2580100148 | COL4A5 | c.3179del (p.Gly1060AspfsTer?) n.2635del c.412del c.3179del (p.Gly1060AspfsTer24) c.2855del (p.Gly952AspfsTer?) c.752del (p.Gly251AspfsTer?) c.3194del (p.Gly1065AspfsTer?) c.1514del (p.Gly505AspfsTer?) | ClinVar |
X | g.108626282G>A | CA413854985 | COL4A5 | c.3179G>A (p.Gly1060Glu) n.2635G>A c.412G>A c.2855G>A (p.Gly952Glu) c.752G>A (p.Gly251Glu) c.3194G>A (p.Gly1065Glu) c.1514G>A (p.Gly505Glu) | |
X | g.108626282G>C | CA413854986 | COL4A5 | c.3179G>C (p.Gly1060Ala) n.2635G>C c.412G>C c.2855G>C (p.Gly952Ala) c.752G>C (p.Gly251Ala) c.3194G>C (p.Gly1065Ala) c.1514G>C (p.Gly505Ala) | |
X | g.108626282G>T | CA413854987 | COL4A5 | c.3179G>T (p.Gly1060Val) n.2635G>T c.412G>T c.2855G>T (p.Gly952Val) c.752G>T (p.Gly251Val) c.3194G>T (p.Gly1065Val) c.1514G>T (p.Gly505Val) | |
X | g.108626283A>C | CA517925909 | COL4A5 | c.3180A>C (p.Gly1060=) n.2636A>C c.413A>C c.2856A>C (p.Gly952=) c.753A>C (p.Gly251=) c.3195A>C (p.Gly1065=) c.1515A>C (p.Gly505=) | |
X | g.108626283A>G | CA517925915 | COL4A5 | c.3180A>G (p.Gly1060=) n.2636A>G c.413A>G c.2856A>G (p.Gly952=) c.753A>G (p.Gly251=) c.3195A>G (p.Gly1065=) c.1515A>G (p.Gly505=) | |
X | g.108626283A>T | CA517925919 | COL4A5 | c.3180A>T (p.Gly1060=) n.2636A>T c.413A>T c.2856A>T (p.Gly952=) c.753A>T (p.Gly251=) c.3195A>T (p.Gly1065=) c.1515A>T (p.Gly505=) | |
X | g.108626284C>A | CA413854988 | COL4A5 | c.3181C>A (p.Gln1061Lys) n.2637C>A c.414C>A c.2857C>A (p.Gln953Lys) c.754C>A (p.Gln252Lys) c.3196C>A (p.Gln1066Lys) c.1516C>A (p.Gln506Lys) | |
X | g.108626284C= | CA2450698089 | COL4A5 | c.3181C= (p.Gln1061=) n.2637C= c.414C= c.2857C= (p.Gln953=) c.754C= (p.Gln252=) c.3196C= (p.Gln1066=) c.1516C= (p.Gln506=) | |
X | g.108626284C>G | CA413854989 | COL4A5 | c.3181C>G (p.Gln1061Glu) n.2637C>G c.414C>G c.2857C>G (p.Gln953Glu) c.754C>G (p.Gln252Glu) c.3196C>G (p.Gln1066Glu) c.1516C>G (p.Gln506Glu) | gnomAD v4 |
X | g.108626284C>T | CA258819 | COL4A5 | c.3181C>T (p.Gln1061Ter) n.2637C>T c.414C>T c.2857C>T (p.Gln953Ter) c.754C>T (p.Gln252Ter) c.3196C>T (p.Gln1066Ter) c.1516C>T (p.Gln506Ter) | ClinVar dbSNP |
X | g.108626285A= | CA2450698090 | COL4A5 | c.3182A= (p.Gln1061=) n.2638A= c.415A= c.2858A= (p.Gln953=) c.755A= (p.Gln252=) c.3197A= (p.Gln1066=) c.1517A= (p.Gln506=) | |
X | g.108626285A>C | CA413854990 | COL4A5 | c.3182A>C (p.Gln1061Pro) n.2638A>C c.415A>C c.2858A>C (p.Gln953Pro) c.755A>C (p.Gln252Pro) c.3197A>C (p.Gln1066Pro) c.1517A>C (p.Gln506Pro) | |
X | g.108626285A>G | CA413854992 | COL4A5 | c.3182A>G (p.Gln1061Arg) n.2638A>G c.415A>G c.2858A>G (p.Gln953Arg) c.755A>G (p.Gln252Arg) c.3197A>G (p.Gln1066Arg) c.1517A>G (p.Gln506Arg) | dbSNP gnomAD v4 |
X | g.108626285A>T | CA413854991 | COL4A5 | c.3182A>T (p.Gln1061Leu) n.2638A>T c.415A>T c.2858A>T (p.Gln953Leu) c.755A>T (p.Gln252Leu) c.3197A>T (p.Gln1066Leu) c.1517A>T (p.Gln506Leu) | |
X | g.108626286G>A | CA517925926 | COL4A5 | c.3183G>A (p.Gln1061=) n.2639G>A c.416G>A c.2859G>A (p.Gln953=) c.756G>A (p.Gln252=) c.3198G>A (p.Gln1066=) c.1518G>A (p.Gln506=) | dbSNP gnomAD v4 |
X | g.108626286G>C | CA413854993 | COL4A5 | c.3183G>C (p.Gln1061His) n.2639G>C c.416G>C c.2859G>C (p.Gln953His) c.756G>C (p.Gln252His) c.3198G>C (p.Gln1066His) c.1518G>C (p.Gln506His) | |
X | g.108626286G= | CA2450698091 | COL4A5 | c.3183G= (p.Gln1061=) n.2639G= c.416G= c.2859G= (p.Gln953=) c.756G= (p.Gln252=) c.3198G= (p.Gln1066=) c.1518G= (p.Gln506=) | |
X | g.108626286G>T | CA413854994 | COL4A5 | c.3183G>T (p.Gln1061His) n.2639G>T c.416G>T c.2859G>T (p.Gln953His) c.756G>T (p.Gln252His) c.3198G>T (p.Gln1066His) c.1518G>T (p.Gln506His) | |
X | g.108626287A>C | CA413854995 | COL4A5 | c.3184A>C (p.Lys1062Gln) n.2640A>C c.417A>C c.2860A>C (p.Lys954Gln) c.757A>C (p.Lys253Gln) c.3199A>C (p.Lys1067Gln) c.1519A>C (p.Lys507Gln) | |
X | g.108626287A>G | CA413854996 | COL4A5 | c.3184A>G (p.Lys1062Glu) n.2640A>G c.417A>G c.2860A>G (p.Lys954Glu) c.757A>G (p.Lys253Glu) c.3199A>G (p.Lys1067Glu) c.1519A>G (p.Lys507Glu) | |
X | g.108626287A>T | CA413854997 | COL4A5 | c.3184A>T (p.Lys1062Ter) n.2640A>T c.417A>T c.2860A>T (p.Lys954Ter) c.757A>T (p.Lys253Ter) c.3199A>T (p.Lys1067Ter) c.1519A>T (p.Lys507Ter) | |
X | g.108626294_108626295insACAAGGTCAAAAAGGCGA | CA2741783363 | COL4A5 | c.3191_3192insACAAGGTCAAAAAGGCGA (p.Gly1063_Asp1064insGluGlnGlyGlnLysGly) n.2647_2648insACAAGGTCAAAAAGGCGA c.424_425insACAAGGTCAAAAAGGCGA c.2867_2868insACAAGGTCAAAAAGGCGA (p.Gly955_Asp956insGluGlnGlyGlnLysGly) c.764_765insACAAGGTCAAAAAGGCGA (p.Gly254_Asp255insGluGlnGlyGlnLysGly) c.3206_3207insACAAGGTCAAAAAGGCGA (p.Gly1068_Asp1069insGluGlnGlyGlnLysGly) c.1526_1527insACAAGGTCAAAAAGGCGA (p.Gly508_Asp509insGluGlnGlyGlnLysGly) | |
X | g.108626288A= | CA2450698092 | COL4A5 | c.3185A= (p.Lys1062=) n.2641A= c.418A= c.2861A= (p.Lys954=) c.758A= (p.Lys253=) c.3200A= (p.Lys1067=) c.1520A= (p.Lys507=) | |
X | g.108626288A>C | CA413854998 | COL4A5 | c.3185A>C (p.Lys1062Thr) n.2641A>C c.418A>C c.2861A>C (p.Lys954Thr) c.758A>C (p.Lys253Thr) c.3200A>C (p.Lys1067Thr) c.1520A>C (p.Lys507Thr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108626288A>G | CA413854999 | COL4A5 | c.3185A>G (p.Lys1062Arg) n.2641A>G c.418A>G c.2861A>G (p.Lys954Arg) c.758A>G (p.Lys253Arg) c.3200A>G (p.Lys1067Arg) c.1520A>G (p.Lys507Arg) | |
X | g.108626288A>T | CA413855000 | COL4A5 | c.3185A>T (p.Lys1062Ile) n.2641A>T c.418A>T c.2861A>T (p.Lys954Ile) c.758A>T (p.Lys253Ile) c.3200A>T (p.Lys1067Ile) c.1520A>T (p.Lys507Ile) | COSMIC COSMIC |
X | g.108626289A>C | CA413855001 | COL4A5 | c.3186A>C (p.Lys1062Asn) n.2642A>C c.419A>C c.2862A>C (p.Lys954Asn) c.759A>C (p.Lys253Asn) c.3201A>C (p.Lys1067Asn) c.1521A>C (p.Lys507Asn) | |
X | g.108626289A>G | CA517925937 | COL4A5 | c.3186A>G (p.Lys1062=) n.2642A>G c.419A>G c.2862A>G (p.Lys954=) c.759A>G (p.Lys253=) c.3201A>G (p.Lys1067=) c.1521A>G (p.Lys507=) | |
X | g.108626289A>T | CA413855002 | COL4A5 | c.3186A>T (p.Lys1062Asn) n.2642A>T c.419A>T c.2862A>T (p.Lys954Asn) c.759A>T (p.Lys253Asn) c.3201A>T (p.Lys1067Asn) c.1521A>T (p.Lys507Asn) | |
X | g.108626290G>A | CA413855005 | COL4A5 | c.3187G>A (p.Gly1063Ser) n.2643G>A c.420G>A c.2863G>A (p.Gly955Ser) c.760G>A (p.Gly254Ser) c.3202G>A (p.Gly1068Ser) c.1522G>A (p.Gly508Ser) | |
X | g.108626290G>C | CA413855004 | COL4A5 | c.3187G>C (p.Gly1063Arg) n.2643G>C c.420G>C c.2863G>C (p.Gly955Arg) c.760G>C (p.Gly254Arg) c.3202G>C (p.Gly1068Arg) c.1522G>C (p.Gly508Arg) | |
X | g.108626290G>T | CA413855003 | COL4A5 | c.3187G>T (p.Gly1063Cys) n.2643G>T c.420G>T c.2863G>T (p.Gly955Cys) c.760G>T (p.Gly254Cys) c.3202G>T (p.Gly1068Cys) c.1522G>T (p.Gly508Cys) | |
X | g.108626291G>A | CA413855007 | COL4A5 | c.3188G>A (p.Gly1063Asp) n.2644G>A c.421G>A c.2864G>A (p.Gly955Asp) c.761G>A (p.Gly254Asp) c.3203G>A (p.Gly1068Asp) c.1523G>A (p.Gly508Asp) | |
X | g.108626291G>C | CA413855006 | COL4A5 | c.3188G>C (p.Gly1063Ala) n.2644G>C c.421G>C c.2864G>C (p.Gly955Ala) c.761G>C (p.Gly254Ala) c.3203G>C (p.Gly1068Ala) c.1523G>C (p.Gly508Ala) | |
X | g.108626291G= | CA2450698093 | COL4A5 | c.3188G= (p.Gly1063=) n.2644G= c.421G= c.2864G= (p.Gly955=) c.761G= (p.Gly254=) c.3203G= (p.Gly1068=) c.1523G= (p.Gly508=) | |
X | g.108626291G>T | CA258822 | COL4A5 | c.3188G>T (p.Gly1063Val) n.2644G>T c.421G>T c.2864G>T (p.Gly955Val) c.761G>T (p.Gly254Val) c.3203G>T (p.Gly1068Val) c.1523G>T (p.Gly508Val) | dbSNP |
X | g.108626292C>A | CA517925946 | COL4A5 | c.3189C>A (p.Gly1063=) n.2645C>A c.422C>A c.2865C>A (p.Gly955=) c.762C>A (p.Gly254=) c.3204C>A (p.Gly1068=) c.1524C>A (p.Gly508=) | ClinVar dbSNP gnomAD v4 |
X | g.108626292C= | CA2450698094 | COL4A5 | c.3189C= (p.Gly1063=) n.2645C= c.422C= c.2865C= (p.Gly955=) c.762C= (p.Gly254=) c.3204C= (p.Gly1068=) c.1524C= (p.Gly508=) | |
X | g.108626292C>G | CA517925945 | COL4A5 | c.3189C>G (p.Gly1063=) n.2645C>G c.422C>G c.2865C>G (p.Gly955=) c.762C>G (p.Gly254=) c.3204C>G (p.Gly1068=) c.1524C>G (p.Gly508=) | ClinVar dbSNP |
X | g.108626292C>T | CA10489041 | COL4A5 | c.3189C>T (p.Gly1063=) n.2645C>T c.422C>T c.2865C>T (p.Gly955=) c.762C>T (p.Gly254=) c.3204C>T (p.Gly1068=) c.1524C>T (p.Gly508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.108626293G>A | CA10489042 | COL4A5 | c.3190G>A (p.Asp1064Asn) n.2646G>A c.423G>A c.2866G>A (p.Asp956Asn) c.763G>A (p.Asp255Asn) c.3205G>A (p.Asp1069Asn) c.1525G>A (p.Asp509Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108626293G>C | CA413855008 | COL4A5 | c.3190G>C (p.Asp1064His) n.2646G>C c.423G>C c.2866G>C (p.Asp956His) c.763G>C (p.Asp255His) c.3205G>C (p.Asp1069His) c.1525G>C (p.Asp509His) | |
X | g.108626293G= | CA2450698095 | COL4A5 | c.3190G= (p.Asp1064=) n.2646G= c.423G= c.2866G= (p.Asp956=) c.763G= (p.Asp255=) c.3205G= (p.Asp1069=) c.1525G= (p.Asp509=) | |
X | g.108626293G>T | CA413855009 | COL4A5 | c.3190G>T (p.Asp1064Tyr) n.2646G>T c.423G>T c.2866G>T (p.Asp956Tyr) c.763G>T (p.Asp255Tyr) c.3205G>T (p.Asp1069Tyr) c.1525G>T (p.Asp509Tyr) | |
X | g.108626294A>C | CA413855012 | COL4A5 | c.3191A>C (p.Asp1064Ala) n.2647A>C c.424A>C c.2867A>C (p.Asp956Ala) c.764A>C (p.Asp255Ala) c.3206A>C (p.Asp1069Ala) c.1526A>C (p.Asp509Ala) | |
X | g.108626294A>G | CA413855010 | COL4A5 | c.3191A>G (p.Asp1064Gly) n.2647A>G c.424A>G c.2867A>G (p.Asp956Gly) c.764A>G (p.Asp255Gly) c.3206A>G (p.Asp1069Gly) c.1526A>G (p.Asp509Gly) | |
X | g.108626294A>T | CA413855011 | COL4A5 | c.3191A>T (p.Asp1064Val) n.2647A>T c.424A>T c.2867A>T (p.Asp956Val) c.764A>T (p.Asp255Val) c.3206A>T (p.Asp1069Val) c.1526A>T (p.Asp509Val) | |
X | g.108626295C>A | CA413855013 | COL4A5 | c.3192C>A (p.Asp1064Glu) n.2648C>A c.425C>A c.2868C>A (p.Asp956Glu) c.765C>A (p.Asp255Glu) c.3207C>A (p.Asp1069Glu) c.1527C>A (p.Asp509Glu) | |
X | g.108626295C>G | CA413855014 | COL4A5 | c.3192C>G (p.Asp1064Glu) n.2648C>G c.425C>G c.2868C>G (p.Asp956Glu) c.765C>G (p.Asp255Glu) c.3207C>G (p.Asp1069Glu) c.1527C>G (p.Asp509Glu) | |
X | g.108626295C>T | CA517925956 | COL4A5 | c.3192C>T (p.Asp1064=) n.2648C>T c.425C>T c.2868C>T (p.Asp956=) c.765C>T (p.Asp255=) c.3207C>T (p.Asp1069=) c.1527C>T (p.Asp509=) | gnomAD v4 |
X | g.108626296A>C | CA413855015 | COL4A5 | c.3193A>C (p.Lys1065Gln) n.2649A>C c.426A>C c.2869A>C (p.Lys957Gln) c.766A>C (p.Lys256Gln) c.3208A>C (p.Lys1070Gln) c.1528A>C (p.Lys510Gln) | |
X | g.108626296A>G | CA413855016 | COL4A5 | c.3193A>G (p.Lys1065Glu) n.2649A>G c.426A>G c.2869A>G (p.Lys957Glu) c.766A>G (p.Lys256Glu) c.3208A>G (p.Lys1070Glu) c.1528A>G (p.Lys510Glu) | |
X | g.108626296A>T | CA413855017 | COL4A5 | c.3193A>T (p.Lys1065Ter) n.2649A>T c.426A>T c.2869A>T (p.Lys957Ter) c.766A>T (p.Lys256Ter) c.3208A>T (p.Lys1070Ter) c.1528A>T (p.Lys510Ter) | |
X | g.108626297A>C | CA413855018 | COL4A5 | c.3194A>C (p.Lys1065Thr) n.2650A>C c.427A>C c.2870A>C (p.Lys957Thr) c.767A>C (p.Lys256Thr) c.3209A>C (p.Lys1070Thr) c.1529A>C (p.Lys510Thr) | |
X | g.108626297A>G | CA413855020 | COL4A5 | c.3194A>G (p.Lys1065Arg) n.2650A>G c.427A>G c.2870A>G (p.Lys957Arg) c.767A>G (p.Lys256Arg) c.3209A>G (p.Lys1070Arg) c.1529A>G (p.Lys510Arg) | ClinVar |
X | g.108626297A>T | CA413855019 | COL4A5 | c.3194A>T (p.Lys1065Ile) n.2650A>T c.427A>T c.2870A>T (p.Lys957Ile) c.767A>T (p.Lys256Ile) c.3209A>T (p.Lys1070Ile) c.1529A>T (p.Lys510Ile) | |
X | g.108626298A>C | CA413855021 | COL4A5 | c.3195A>C (p.Lys1065Asn) n.2651A>C c.428A>C c.2871A>C (p.Lys957Asn) c.768A>C (p.Lys256Asn) c.3210A>C (p.Lys1070Asn) c.1530A>C (p.Lys510Asn) | |
X | g.108626298A>G | CA517925970 | COL4A5 | c.3195A>G (p.Lys1065=) n.2651A>G c.428A>G c.2871A>G (p.Lys957=) c.768A>G (p.Lys256=) c.3210A>G (p.Lys1070=) c.1530A>G (p.Lys510=) | gnomAD v4 |
X | g.108626298A>T | CA413855022 | COL4A5 | c.3195A>T (p.Lys1065Asn) n.2651A>T c.428A>T c.2871A>T (p.Lys957Asn) c.768A>T (p.Lys256Asn) c.3210A>T (p.Lys1070Asn) c.1530A>T (p.Lys510Asn) | |
X | g.108626299G>A | CA258827 | COL4A5 | c.3196G>A (p.Gly1066Ser) n.2652G>A c.429G>A c.2872G>A (p.Gly958Ser) c.769G>A (p.Gly257Ser) c.3211G>A (p.Gly1071Ser) c.1531G>A (p.Gly511Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108626299G>C | CA258825 | COL4A5 | c.3196G>C (p.Gly1066Arg) n.2652G>C c.429G>C c.2872G>C (p.Gly958Arg) c.769G>C (p.Gly257Arg) c.3211G>C (p.Gly1071Arg) c.1531G>C (p.Gly511Arg) | dbSNP |
X | g.108626299G= | CA2450698096 | COL4A5 | c.3196G= (p.Gly1066=) n.2652G= c.429G= c.2872G= (p.Gly958=) c.769G= (p.Gly257=) c.3211G= (p.Gly1071=) c.1531G= (p.Gly511=) | |
X | g.108626299G>T | CA10489043 | COL4A5 | c.3196G>T (p.Gly1066Cys) n.2652G>T c.429G>T c.2872G>T (p.Gly958Cys) c.769G>T (p.Gly257Cys) c.3211G>T (p.Gly1071Cys) c.1531G>T (p.Gly511Cys) | dbSNP ExAC |
X | g.108626300G>A | CA413855023 | COL4A5 | c.3197G>A (p.Gly1066Asp) n.2653G>A c.430G>A c.2873G>A (p.Gly958Asp) c.770G>A (p.Gly257Asp) c.3212G>A (p.Gly1071Asp) c.1532G>A (p.Gly511Asp) | ClinVar dbSNP |
X | g.108626300G>C | CA258829 | COL4A5 | c.3197G>C (p.Gly1066Ala) n.2653G>C c.430G>C c.2873G>C (p.Gly958Ala) c.770G>C (p.Gly257Ala) c.3212G>C (p.Gly1071Ala) c.1532G>C (p.Gly511Ala) | dbSNP |
X | g.108626300G= | CA2450698097 | COL4A5 | c.3197G= (p.Gly1066=) n.2653G= c.430G= c.2873G= (p.Gly958=) c.770G= (p.Gly257=) c.3212G= (p.Gly1071=) c.1532G= (p.Gly511=) | |
X | g.108626300G>T | CA413855024 | COL4A5 | c.3197G>T (p.Gly1066Val) n.2653G>T c.430G>T c.2873G>T (p.Gly958Val) c.770G>T (p.Gly257Val) c.3212G>T (p.Gly1071Val) c.1532G>T (p.Gly511Val) | ClinVar dbSNP |
X | g.108626301T>A | CA517925979 | COL4A5 | c.3198T>A (p.Gly1066=) n.2654T>A c.431T>A c.2874T>A (p.Gly958=) c.771T>A (p.Gly257=) c.3213T>A (p.Gly1071=) c.1533T>A (p.Gly511=) | |
X | g.108626301T>C | CA517925980 | COL4A5 | c.3198T>C (p.Gly1066=) n.2654T>C c.431T>C c.2874T>C (p.Gly958=) c.771T>C (p.Gly257=) c.3213T>C (p.Gly1071=) c.1533T>C (p.Gly511=) | |
X | g.108626301T>G | CA517925982 | COL4A5 | c.3198T>G (p.Gly1066=) n.2654T>G c.431T>G c.2874T>G (p.Gly958=) c.771T>G (p.Gly257=) c.3213T>G (p.Gly1071=) c.1533T>G (p.Gly511=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108626301T= | CA2450697562 | COL4A5 | c.3198T= (p.Gly1066=) n.2654T= c.431T= c.2874T= (p.Gly958=) c.771T= (p.Gly257=) c.3213T= (p.Gly1071=) c.1533T= (p.Gly511=) | |
X | g.108626302del | CA2579676667 | COL4A5 | c.3199del (p.Asp1067IlefsTer?) n.2655del c.432del c.3199del (p.Asp1067IlefsTer17) c.2875del (p.Asp959IlefsTer?) c.772del (p.Asp258IlefsTer?) c.3214del (p.Asp1072IlefsTer?) c.1534del (p.Asp512IlefsTer?) | |
X | g.108626302G>A | CA413855025 | COL4A5 | c.3199G>A (p.Asp1067Asn) n.2655G>A c.432G>A c.2875G>A (p.Asp959Asn) c.772G>A (p.Asp258Asn) c.3214G>A (p.Asp1072Asn) c.1534G>A (p.Asp512Asn) | |
X | g.108626302G>C | CA413855026 | COL4A5 | c.3199G>C (p.Asp1067His) n.2655G>C c.432G>C c.2875G>C (p.Asp959His) c.772G>C (p.Asp258His) c.3214G>C (p.Asp1072His) c.1534G>C (p.Asp512His) | |
X | g.108626302G>T | CA413855027 | COL4A5 | c.3199G>T (p.Asp1067Tyr) n.2655G>T c.432G>T c.2875G>T (p.Asp959Tyr) c.772G>T (p.Asp258Tyr) c.3214G>T (p.Asp1072Tyr) c.1534G>T (p.Asp512Tyr) | |
X | g.108626303A>C | CA413855029 | COL4A5 | c.3200A>C (p.Asp1067Ala) n.2656A>C c.433A>C c.2876A>C (p.Asp959Ala) c.773A>C (p.Asp258Ala) c.3215A>C (p.Asp1072Ala) c.1535A>C (p.Asp512Ala) | |
X | g.108626303A>G | CA413855030 | COL4A5 | c.3200A>G (p.Asp1067Gly) n.2656A>G c.433A>G c.2876A>G (p.Asp959Gly) c.773A>G (p.Asp258Gly) c.3215A>G (p.Asp1072Gly) c.1535A>G (p.Asp512Gly) | |
X | g.108626303A>T | CA413855028 | COL4A5 | c.3200A>T (p.Asp1067Val) n.2656A>T c.433A>T c.2876A>T (p.Asp959Val) c.773A>T (p.Asp258Val) c.3215A>T (p.Asp1072Val) c.1535A>T (p.Asp512Val) | |
X | g.108626304T>A | CA413855031 | COL4A5 | c.3201T>A (p.Asp1067Glu) n.2657T>A c.434T>A c.2877T>A (p.Asp959Glu) c.774T>A (p.Asp258Glu) c.3216T>A (p.Asp1072Glu) c.1536T>A (p.Asp512Glu) | gnomAD v4 |
X | g.108626304T>C | CA517925984 | COL4A5 | c.3201T>C (p.Asp1067=) n.2657T>C c.434T>C c.2877T>C (p.Asp959=) c.774T>C (p.Asp258=) c.3216T>C (p.Asp1072=) c.1536T>C (p.Asp512=) | |
X | g.108626304T>G | CA413855032 | COL4A5 | c.3201T>G (p.Asp1067Glu) n.2657T>G c.434T>G c.2877T>G (p.Asp959Glu) c.774T>G (p.Asp258Glu) c.3216T>G (p.Asp1072Glu) c.1536T>G (p.Asp512Glu) |