Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108622707_108622759del | CA2566557330 | COL4A5 | c.2799_2851del (p.Pro934SerfsTer?) n.2255_2307del c.32_84del c.2475_2527del (p.Pro826SerfsTer?) c.372_424del (p.Pro125SerfsTer?) c.2814_2866del (p.Pro939SerfsTer?) c.1134_1186del (p.Pro379SerfsTer?) | |
X | g.108622711_108622716del | CA2695235223 | COL4A5 | c.2803_2808del (p.Gly935_Pro936del) n.2259_2264del c.36_41del c.2479_2484del (p.Gly827_Pro828del) c.376_381del (p.Gly126_Pro127del) c.2818_2823del (p.Gly940_Pro941del) c.1138_1143del (p.Gly380_Pro381del) | |
X | g.108622710T>A | CA517924738 | COL4A5 | c.2802T>A (p.Pro934=) n.2258T>A c.35T>A c.2478T>A (p.Pro826=) c.375T>A (p.Pro125=) c.2817T>A (p.Pro939=) c.1137T>A (p.Pro379=) | |
X | g.108622710T>C | CA517924739 | COL4A5 | c.2802T>C (p.Pro934=) n.2258T>C c.35T>C c.2478T>C (p.Pro826=) c.375T>C (p.Pro125=) c.2817T>C (p.Pro939=) c.1137T>C (p.Pro379=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108622710T>G | CA517924740 | COL4A5 | c.2802T>G (p.Pro934=) n.2258T>G c.35T>G c.2478T>G (p.Pro826=) c.375T>G (p.Pro125=) c.2817T>G (p.Pro939=) c.1137T>G (p.Pro379=) | |
X | g.108622710T= | CA2450696859 | COL4A5 | c.2802T= (p.Pro934=) n.2258T= c.35T= c.2478T= (p.Pro826=) c.375T= (p.Pro125=) c.2817T= (p.Pro939=) c.1137T= (p.Pro379=) | |
X | g.108622710dup | CA258765 | COL4A5 | c.2802dup (p.Gly935TrpfsTer8) n.2258dup c.35dup c.2478dup (p.Gly827TrpfsTer8) c.375dup (p.Gly126TrpfsTer8) c.2817dup (p.Gly940TrpfsTer8) c.1137dup (p.Gly380TrpfsTer8) | ClinVar dbSNP |
X | g.108622711G>A | CA413852644 | COL4A5 | c.2803G>A (p.Gly935Ser) n.2259G>A c.36G>A c.2479G>A (p.Gly827Ser) c.376G>A (p.Gly126Ser) c.2818G>A (p.Gly940Ser) c.1138G>A (p.Gly380Ser) | |
X | g.108622711G>C | CA413852640 | COL4A5 | c.2803G>C (p.Gly935Arg) n.2259G>C c.36G>C c.2479G>C (p.Gly827Arg) c.376G>C (p.Gly126Arg) c.2818G>C (p.Gly940Arg) c.1138G>C (p.Gly380Arg) | |
X | g.108622711G>T | CA413852642 | COL4A5 | c.2803G>T (p.Gly935Cys) n.2259G>T c.36G>T c.2479G>T (p.Gly827Cys) c.376G>T (p.Gly126Cys) c.2818G>T (p.Gly940Cys) c.1138G>T (p.Gly380Cys) | |
X | g.108622712G>A | CA258766 | COL4A5 | c.2804G>A (p.Gly935Asp) n.2260G>A c.37G>A c.2480G>A (p.Gly827Asp) c.377G>A (p.Gly126Asp) c.2819G>A (p.Gly940Asp) c.1139G>A (p.Gly380Asp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108622712G>C | CA413852646 | COL4A5 | c.2804G>C (p.Gly935Ala) n.2260G>C c.37G>C c.2480G>C (p.Gly827Ala) c.377G>C (p.Gly126Ala) c.2819G>C (p.Gly940Ala) c.1139G>C (p.Gly380Ala) | |
X | g.108622712G= | CA2450696860 | COL4A5 | c.2804G= (p.Gly935=) n.2260G= c.37G= c.2480G= (p.Gly827=) c.377G= (p.Gly126=) c.2819G= (p.Gly940=) c.1139G= (p.Gly380=) | |
X | g.108622712G>T | CA413852648 | COL4A5 | c.2804G>T (p.Gly935Val) n.2260G>T c.37G>T c.2480G>T (p.Gly827Val) c.377G>T (p.Gly126Val) c.2819G>T (p.Gly940Val) c.1139G>T (p.Gly380Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108622713C>A | CA517924741 | COL4A5 | c.2805C>A (p.Gly935=) n.2261C>A c.38C>A c.2481C>A (p.Gly827=) c.378C>A (p.Gly126=) c.2820C>A (p.Gly940=) c.1140C>A (p.Gly380=) | gnomAD v4 |
X | g.108622713C>G | CA517924742 | COL4A5 | c.2805C>G (p.Gly935=) n.2261C>G c.38C>G c.2481C>G (p.Gly827=) c.378C>G (p.Gly126=) c.2820C>G (p.Gly940=) c.1140C>G (p.Gly380=) | |
X | g.108622713C>T | CA517924743 | COL4A5 | c.2805C>T (p.Gly935=) n.2261C>T c.38C>T c.2481C>T (p.Gly827=) c.378C>T (p.Gly126=) c.2820C>T (p.Gly940=) c.1140C>T (p.Gly380=) | |
X | g.108622714C>A | CA413852651 | COL4A5 | c.2806C>A (p.Pro936Thr) n.2262C>A c.39C>A c.2482C>A (p.Pro828Thr) c.379C>A (p.Pro127Thr) c.2821C>A (p.Pro941Thr) c.1141C>A (p.Pro381Thr) | |
X | g.108622714C>G | CA413852653 | COL4A5 | c.2806C>G (p.Pro936Ala) n.2262C>G c.39C>G c.2482C>G (p.Pro828Ala) c.379C>G (p.Pro127Ala) c.2821C>G (p.Pro941Ala) c.1141C>G (p.Pro381Ala) | |
X | g.108622714C>T | CA413852655 | COL4A5 | c.2806C>T (p.Pro936Ser) n.2262C>T c.39C>T c.2482C>T (p.Pro828Ser) c.379C>T (p.Pro127Ser) c.2821C>T (p.Pro941Ser) c.1141C>T (p.Pro381Ser) | |
X | g.108622715C>A | CA413852657 | COL4A5 | c.2807C>A (p.Pro936His) n.2263C>A c.40C>A c.2483C>A (p.Pro828His) c.380C>A (p.Pro127His) c.2822C>A (p.Pro941His) c.1142C>A (p.Pro381His) | |
X | g.108622715C= | CA2450696861 | COL4A5 | c.2807C= (p.Pro936=) n.2263C= c.40C= c.2483C= (p.Pro828=) c.380C= (p.Pro127=) c.2822C= (p.Pro941=) c.1142C= (p.Pro381=) | |
X | g.108622715C>G | CA413852659 | COL4A5 | c.2807C>G (p.Pro936Arg) n.2263C>G c.40C>G c.2483C>G (p.Pro828Arg) c.380C>G (p.Pro127Arg) c.2822C>G (p.Pro941Arg) c.1142C>G (p.Pro381Arg) | ClinVar |
X | g.108622715C>T | CA413852660 | COL4A5 | c.2807C>T (p.Pro936Leu) n.2263C>T c.40C>T c.2483C>T (p.Pro828Leu) c.380C>T (p.Pro127Leu) c.2822C>T (p.Pro941Leu) c.1142C>T (p.Pro381Leu) | dbSNP |
X | g.108622716T>A | CA517924744 | COL4A5 | c.2808T>A (p.Pro936=) n.2264T>A c.41T>A c.2484T>A (p.Pro828=) c.381T>A (p.Pro127=) c.2823T>A (p.Pro941=) c.1143T>A (p.Pro381=) | |
X | g.108622716T>C | CA517924745 | COL4A5 | c.2808T>C (p.Pro936=) n.2264T>C c.41T>C c.2484T>C (p.Pro828=) c.381T>C (p.Pro127=) c.2823T>C (p.Pro941=) c.1143T>C (p.Pro381=) | gnomAD v4 |
X | g.108622716T>G | CA517924746 | COL4A5 | c.2808T>G (p.Pro936=) n.2264T>G c.41T>G c.2484T>G (p.Pro828=) c.381T>G (p.Pro127=) c.2823T>G (p.Pro941=) c.1143T>G (p.Pro381=) | |
X | g.108622717A>C | CA413852663 | COL4A5 | c.2809A>C (p.Thr937Pro) n.2265A>C c.42A>C c.2485A>C (p.Thr829Pro) c.382A>C (p.Thr128Pro) c.2824A>C (p.Thr942Pro) c.1144A>C (p.Thr382Pro) | |
X | g.108622717A>G | CA413852665 | COL4A5 | c.2809A>G (p.Thr937Ala) n.2265A>G c.42A>G c.2485A>G (p.Thr829Ala) c.382A>G (p.Thr128Ala) c.2824A>G (p.Thr942Ala) c.1144A>G (p.Thr382Ala) | |
X | g.108622717A>T | CA413852667 | COL4A5 | c.2809A>T (p.Thr937Ser) n.2265A>T c.42A>T c.2485A>T (p.Thr829Ser) c.382A>T (p.Thr128Ser) c.2824A>T (p.Thr942Ser) c.1144A>T (p.Thr382Ser) | |
X | g.108622718C>A | CA413852672 | COL4A5 | c.2810C>A (p.Thr937Lys) n.2266C>A c.43C>A c.2486C>A (p.Thr829Lys) c.383C>A (p.Thr128Lys) c.2825C>A (p.Thr942Lys) c.1145C>A (p.Thr382Lys) | |
X | g.108622718C>G | CA413852671 | COL4A5 | c.2810C>G (p.Thr937Arg) n.2266C>G c.43C>G c.2486C>G (p.Thr829Arg) c.383C>G (p.Thr128Arg) c.2825C>G (p.Thr942Arg) c.1145C>G (p.Thr382Arg) | |
X | g.108622718C>T | CA413852670 | COL4A5 | c.2810C>T (p.Thr937Ile) n.2266C>T c.43C>T c.2486C>T (p.Thr829Ile) c.383C>T (p.Thr128Ile) c.2825C>T (p.Thr942Ile) c.1145C>T (p.Thr382Ile) | |
X | g.108622719A= | CA2450696862 | COL4A5 | c.2811A= (p.Thr937=) n.2267A= c.44A= c.2487A= (p.Thr829=) c.384A= (p.Thr128=) c.2826A= (p.Thr942=) c.1146A= (p.Thr382=) | |
X | g.108622719A>C | CA517924747 | COL4A5 | c.2811A>C (p.Thr937=) n.2267A>C c.44A>C c.2487A>C (p.Thr829=) c.384A>C (p.Thr128=) c.2826A>C (p.Thr942=) c.1146A>C (p.Thr382=) | |
X | g.108622719A>G | CA517924748 | COL4A5 | c.2811A>G (p.Thr937=) n.2267A>G c.44A>G c.2487A>G (p.Thr829=) c.384A>G (p.Thr128=) c.2826A>G (p.Thr942=) c.1146A>G (p.Thr382=) | |
X | g.108622719A>T | CA517924749 | COL4A5 | c.2811A>T (p.Thr937=) n.2267A>T c.44A>T c.2487A>T (p.Thr829=) c.384A>T (p.Thr128=) c.2826A>T (p.Thr942=) c.1146A>T (p.Thr382=) | dbSNP |
X | g.108622720G>A | CA413852677 | COL4A5 | c.2812G>A (p.Gly938Arg) n.2268G>A c.45G>A c.2488G>A (p.Gly830Arg) c.385G>A (p.Gly129Arg) c.2827G>A (p.Gly943Arg) c.1147G>A (p.Gly383Arg) | |
X | g.108622720G>C | CA413852675 | COL4A5 | c.2812G>C (p.Gly938Arg) n.2268G>C c.45G>C c.2488G>C (p.Gly830Arg) c.385G>C (p.Gly129Arg) c.2827G>C (p.Gly943Arg) c.1147G>C (p.Gly383Arg) | |
X | g.108622720G>T | CA413852680 | COL4A5 | c.2812G>T (p.Gly938Ter) n.2268G>T c.45G>T c.2488G>T (p.Gly830Ter) c.385G>T (p.Gly129Ter) c.2827G>T (p.Gly943Ter) c.1147G>T (p.Gly383Ter) | |
X | g.108622721G>A | CA413852681 | COL4A5 | c.2813G>A (p.Gly938Glu) n.2269G>A c.46G>A c.2489G>A (p.Gly830Glu) c.386G>A (p.Gly129Glu) c.2828G>A (p.Gly943Glu) c.1148G>A (p.Gly383Glu) | gnomAD v4 COSMIC COSMIC |
X | g.108622721G>C | CA413852683 | COL4A5 | c.2813G>C (p.Gly938Ala) n.2269G>C c.46G>C c.2489G>C (p.Gly830Ala) c.386G>C (p.Gly129Ala) c.2828G>C (p.Gly943Ala) c.1148G>C (p.Gly383Ala) | |
X | g.108622721G>T | CA413852685 | COL4A5 | c.2813G>T (p.Gly938Val) n.2269G>T c.46G>T c.2489G>T (p.Gly830Val) c.386G>T (p.Gly129Val) c.2828G>T (p.Gly943Val) c.1148G>T (p.Gly383Val) | |
X | g.108622722A>C | CA517924750 | COL4A5 | c.2814A>C (p.Gly938=) n.2270A>C c.47A>C c.2490A>C (p.Gly830=) c.387A>C (p.Gly129=) c.2829A>C (p.Gly943=) c.1149A>C (p.Gly383=) | |
X | g.108622722A>G | CA517924751 | COL4A5 | c.2814A>G (p.Gly938=) n.2270A>G c.47A>G c.2490A>G (p.Gly830=) c.387A>G (p.Gly129=) c.2829A>G (p.Gly943=) c.1149A>G (p.Gly383=) | |
X | g.108622722A>T | CA517924752 | COL4A5 | c.2814A>T (p.Gly938=) n.2270A>T c.47A>T c.2490A>T (p.Gly830=) c.387A>T (p.Gly129=) c.2829A>T (p.Gly943=) c.1149A>T (p.Gly383=) | |
X | g.108622723G>A | CA413852687 | COL4A5 | c.2815G>A (p.Glu939Lys) n.2271G>A c.48G>A c.2491G>A (p.Glu831Lys) c.388G>A (p.Glu130Lys) c.2830G>A (p.Glu944Lys) c.1150G>A (p.Glu384Lys) | |
X | g.108622723G>C | CA413852688 | COL4A5 | c.2815G>C (p.Glu939Gln) n.2271G>C c.48G>C c.2491G>C (p.Glu831Gln) c.388G>C (p.Glu130Gln) c.2830G>C (p.Glu944Gln) c.1150G>C (p.Glu384Gln) | |
X | g.108622723G= | CA2450696863 | COL4A5 | c.2815G= (p.Glu939=) n.2271G= c.48G= c.2491G= (p.Glu831=) c.388G= (p.Glu130=) c.2830G= (p.Glu944=) c.1150G= (p.Glu384=) | |
X | g.108622723G>T | CA413852690 | COL4A5 | c.2815G>T (p.Glu939Ter) n.2271G>T c.48G>T c.2491G>T (p.Glu831Ter) c.388G>T (p.Glu130Ter) c.2830G>T (p.Glu944Ter) c.1150G>T (p.Glu384Ter) |