| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108625761_108625769del | CA2697544690 | COL4A5 | c.3073_3081del (p.Leu1025_Gly1027del) n.2529_2537del c.306_314del c.2749_2757del (p.Leu917_Gly919del) c.646_654del (p.Leu216_Gly218del) c.3088_3096del (p.Leu1030_Gly1032del) c.1408_1416del (p.Leu470_Gly472del) | ClinVar |
| X | g.108625768G>A | CA413854690 | COL4A5 | c.3080G>A (p.Gly1027Glu) n.2536G>A c.313G>A c.2756G>A (p.Gly919Glu) c.653G>A (p.Gly218Glu) c.3095G>A (p.Gly1032Glu) c.1415G>A (p.Gly472Glu) | ClinVar dbSNP COSMIC |
| X | g.108625768G>C | CA413854692 | COL4A5 | c.3080G>C (p.Gly1027Ala) n.2536G>C c.313G>C c.2756G>C (p.Gly919Ala) c.653G>C (p.Gly218Ala) c.3095G>C (p.Gly1032Ala) c.1415G>C (p.Gly472Ala) | |
| X | g.108625768G= | CA2450697913 | COL4A5 | c.3080G= (p.Gly1027=) n.2536G= c.313G= c.2756G= (p.Gly919=) c.653G= (p.Gly218=) c.3095G= (p.Gly1032=) c.1415G= (p.Gly472=) | |
| X | g.108625768G>T | CA258800 | COL4A5 | c.3080G>T (p.Gly1027Val) n.2536G>T c.313G>T c.2756G>T (p.Gly919Val) c.653G>T (p.Gly218Val) c.3095G>T (p.Gly1032Val) c.1415G>T (p.Gly472Val) | dbSNP |
| X | g.108625769A>C | CA517925385 | COL4A5 | c.3081A>C (p.Gly1027=) n.2537A>C c.314A>C c.2757A>C (p.Gly919=) c.654A>C (p.Gly218=) c.3096A>C (p.Gly1032=) c.1416A>C (p.Gly472=) | |
| X | g.108625769A>G | CA517925384 | COL4A5 | c.3081A>G (p.Gly1027=) n.2537A>G c.314A>G c.2757A>G (p.Gly919=) c.654A>G (p.Gly218=) c.3096A>G (p.Gly1032=) c.1416A>G (p.Gly472=) | |
| X | g.108625769A>T | CA517925383 | COL4A5 | c.3081A>T (p.Gly1027=) n.2537A>T c.314A>T c.2757A>T (p.Gly919=) c.654A>T (p.Gly218=) c.3096A>T (p.Gly1032=) c.1416A>T (p.Gly472=) | gnomAD v4 |
| X | g.108625770A= | CA2450697914 | COL4A5 | c.3082A= (p.Thr1028=) n.2538A= c.315A= c.2758A= (p.Thr920=) c.655A= (p.Thr219=) c.3097A= (p.Thr1033=) c.1417A= (p.Thr473=) | |
| X | g.108625770A>C | CA413854694 | COL4A5 | c.3082A>C (p.Thr1028Pro) n.2538A>C c.315A>C c.2758A>C (p.Thr920Pro) c.655A>C (p.Thr219Pro) c.3097A>C (p.Thr1033Pro) c.1417A>C (p.Thr473Pro) | |
| X | g.108625770A>G | CA413854696 | COL4A5 | c.3082A>G (p.Thr1028Ala) n.2538A>G c.315A>G c.2758A>G (p.Thr920Ala) c.655A>G (p.Thr219Ala) c.3097A>G (p.Thr1033Ala) c.1417A>G (p.Thr473Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108625770A>T | CA413854698 | COL4A5 | c.3082A>T (p.Thr1028Ser) n.2538A>T c.315A>T c.2758A>T (p.Thr920Ser) c.655A>T (p.Thr219Ser) c.3097A>T (p.Thr1033Ser) c.1417A>T (p.Thr473Ser) | |
| X | g.108625771C>A | CA413854703 | COL4A5 | c.3083C>A (p.Thr1028Asn) n.2539C>A c.316C>A c.2759C>A (p.Thr920Asn) c.656C>A (p.Thr219Asn) c.3098C>A (p.Thr1033Asn) c.1418C>A (p.Thr473Asn) | COSMIC COSMIC |
| X | g.108625771C>G | CA413854700 | COL4A5 | c.3083C>G (p.Thr1028Ser) n.2539C>G c.316C>G c.2759C>G (p.Thr920Ser) c.656C>G (p.Thr219Ser) c.3098C>G (p.Thr1033Ser) c.1418C>G (p.Thr473Ser) | |
| X | g.108625771C>T | CA413854702 | COL4A5 | c.3083C>T (p.Thr1028Ile) n.2539C>T c.316C>T c.2759C>T (p.Thr920Ile) c.656C>T (p.Thr219Ile) c.3098C>T (p.Thr1033Ile) c.1418C>T (p.Thr473Ile) | |
| X | g.108625772C>A | CA517925386 | COL4A5 | c.3084C>A (p.Thr1028=) n.2540C>A c.317C>A c.2760C>A (p.Thr920=) c.657C>A (p.Thr219=) c.3099C>A (p.Thr1033=) c.1419C>A (p.Thr473=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108625772C= | CA2450697915 | COL4A5 | c.3084C= (p.Thr1028=) n.2540C= c.317C= c.2760C= (p.Thr920=) c.657C= (p.Thr219=) c.3099C= (p.Thr1033=) c.1419C= (p.Thr473=) | |
| X | g.108625772C>G | CA517925387 | COL4A5 | c.3084C>G (p.Thr1028=) n.2540C>G c.317C>G c.2760C>G (p.Thr920=) c.657C>G (p.Thr219=) c.3099C>G (p.Thr1033=) c.1419C>G (p.Thr473=) | |
| X | g.108625772C>T | CA10489027 | COL4A5 | c.3084C>T (p.Thr1028=) n.2540C>T c.317C>T c.2760C>T (p.Thr920=) c.657C>T (p.Thr219=) c.3099C>T (p.Thr1033=) c.1419C>T (p.Thr473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108625773A>C | CA413854706 | COL4A5 | c.3085A>C (p.Ile1029Leu) n.2541A>C c.318A>C c.2761A>C (p.Ile921Leu) c.658A>C (p.Ile220Leu) c.3100A>C (p.Ile1034Leu) c.1420A>C (p.Ile474Leu) | |
| X | g.108625773A>G | CA413854708 | COL4A5 | c.3085A>G (p.Ile1029Val) n.2541A>G c.318A>G c.2761A>G (p.Ile921Val) c.658A>G (p.Ile220Val) c.3100A>G (p.Ile1034Val) c.1420A>G (p.Ile474Val) | ClinVar gnomAD v4 |
| X | g.108625773A>T | CA413854710 | COL4A5 | c.3085A>T (p.Ile1029Phe) n.2541A>T c.318A>T c.2761A>T (p.Ile921Phe) c.658A>T (p.Ile220Phe) c.3100A>T (p.Ile1034Phe) c.1420A>T (p.Ile474Phe) | ClinVar dbSNP |
| X | g.108625775_108625781del | CA2573159097 | COL4A5 | c.3087_3093del (p.Gly1030TrpfsTer?) n.2543_2549del c.320_326del c.2763_2769del (p.Gly922TrpfsTer?) c.660_666del (p.Gly221TrpfsTer?) c.3102_3108del (p.Gly1035TrpfsTer?) c.1422_1428del (p.Gly475TrpfsTer?) | ClinVar dbSNP |
| X | g.108625774T>A | CA413854712 | COL4A5 | c.3086T>A (p.Ile1029Asn) n.2542T>A c.319T>A c.2762T>A (p.Ile921Asn) c.659T>A (p.Ile220Asn) c.3101T>A (p.Ile1034Asn) c.1421T>A (p.Ile474Asn) | |
| X | g.108625774T>C | CA413854713 | COL4A5 | c.3086T>C (p.Ile1029Thr) n.2542T>C c.319T>C c.2762T>C (p.Ile921Thr) c.659T>C (p.Ile220Thr) c.3101T>C (p.Ile1034Thr) c.1421T>C (p.Ile474Thr) | |
| X | g.108625774T>G | CA413854715 | COL4A5 | c.3086T>G (p.Ile1029Ser) n.2542T>G c.319T>G c.2762T>G (p.Ile921Ser) c.659T>G (p.Ile220Ser) c.3101T>G (p.Ile1034Ser) c.1421T>G (p.Ile474Ser) | |
| X | g.108625775del | CA2579676636 | COL4A5 | c.3087del (p.Ile1029MetfsTer?) n.2543del c.320del c.2763del (p.Ile921MetfsTer?) c.660del (p.Ile220MetfsTer?) c.3102del (p.Ile1034MetfsTer?) c.1422del (p.Ile474MetfsTer?) | |
| X | g.108625775C>A | CA517925388 | COL4A5 | c.3087C>A (p.Ile1029=) n.2543C>A c.320C>A c.2763C>A (p.Ile921=) c.660C>A (p.Ile220=) c.3102C>A (p.Ile1034=) c.1422C>A (p.Ile474=) | |
| X | g.108625775C= | CA2450697916 | COL4A5 | c.3087C= (p.Ile1029=) n.2543C= c.320C= c.2763C= (p.Ile921=) c.660C= (p.Ile220=) c.3102C= (p.Ile1034=) c.1422C= (p.Ile474=) | |
| X | g.108625775C>G | CA413854717 | COL4A5 | c.3087C>G (p.Ile1029Met) n.2543C>G c.320C>G c.2763C>G (p.Ile921Met) c.660C>G (p.Ile220Met) c.3102C>G (p.Ile1034Met) c.1422C>G (p.Ile474Met) | |
| X | g.108625775C>T | CA10489028 | COL4A5 | c.3087C>T (p.Ile1029=) n.2543C>T c.320C>T c.2763C>T (p.Ile921=) c.660C>T (p.Ile220=) c.3102C>T (p.Ile1034=) c.1422C>T (p.Ile474=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108625776G>A | CA258803 | COL4A5 | c.3088G>A (p.Gly1030Ser) n.2544G>A c.321G>A c.2764G>A (p.Gly922Ser) c.661G>A (p.Gly221Ser) c.3103G>A (p.Gly1035Ser) c.1423G>A (p.Gly475Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.108625776G>C | CA413854721 | COL4A5 | c.3088G>C (p.Gly1030Arg) n.2544G>C c.321G>C c.2764G>C (p.Gly922Arg) c.661G>C (p.Gly221Arg) c.3103G>C (p.Gly1035Arg) c.1423G>C (p.Gly475Arg) | |
| X | g.108625776G= | CA2450697917 | COL4A5 | c.3088G= (p.Gly1030=) n.2544G= c.321G= c.2764G= (p.Gly922=) c.661G= (p.Gly221=) c.3103G= (p.Gly1035=) c.1423G= (p.Gly475=) | |
| X | g.108625776G>T | CA413854719 | COL4A5 | c.3088G>T (p.Gly1030Cys) n.2544G>T c.321G>T c.2764G>T (p.Gly922Cys) c.661G>T (p.Gly221Cys) c.3103G>T (p.Gly1035Cys) c.1423G>T (p.Gly475Cys) | |
| X | g.108625777G>A | CA413854724 | COL4A5 | c.3089G>A (p.Gly1030Asp) n.2545G>A c.322G>A c.2765G>A (p.Gly922Asp) c.662G>A (p.Gly221Asp) c.3104G>A (p.Gly1035Asp) c.1424G>A (p.Gly475Asp) | |
| X | g.108625777G>C | CA413854725 | COL4A5 | c.3089G>C (p.Gly1030Ala) n.2545G>C c.322G>C c.2765G>C (p.Gly922Ala) c.662G>C (p.Gly221Ala) c.3104G>C (p.Gly1035Ala) c.1424G>C (p.Gly475Ala) | |
| X | g.108625777G>T | CA413854727 | COL4A5 | c.3089G>T (p.Gly1030Val) n.2545G>T c.322G>T c.2765G>T (p.Gly922Val) c.662G>T (p.Gly221Val) c.3104G>T (p.Gly1035Val) c.1424G>T (p.Gly475Val) | |
| X | g.108625778T>A | CA517925389 | COL4A5 | c.3090T>A (p.Gly1030=) n.2546T>A c.323T>A c.2766T>A (p.Gly922=) c.663T>A (p.Gly221=) c.3105T>A (p.Gly1035=) c.1425T>A (p.Gly475=) | |
| X | g.108625778T>C | CA517925390 | COL4A5 | c.3090T>C (p.Gly1030=) n.2546T>C c.323T>C c.2766T>C (p.Gly922=) c.663T>C (p.Gly221=) c.3105T>C (p.Gly1035=) c.1425T>C (p.Gly475=) | |
| X | g.108625778T>G | CA517925391 | COL4A5 | c.3090T>G (p.Gly1030=) n.2546T>G c.323T>G c.2766T>G (p.Gly922=) c.663T>G (p.Gly221=) c.3105T>G (p.Gly1035=) c.1425T>G (p.Gly475=) | |
| X | g.108625779G>A | CA413854729 | COL4A5 | c.3091G>A (p.Asp1031Asn) n.2547G>A c.324G>A c.2767G>A (p.Asp923Asn) c.664G>A (p.Asp222Asn) c.3106G>A (p.Asp1036Asn) c.1426G>A (p.Asp476Asn) | |
| X | g.108625779G>C | CA413854730 | COL4A5 | c.3091G>C (p.Asp1031His) n.2547G>C c.324G>C c.2767G>C (p.Asp923His) c.664G>C (p.Asp222His) c.3106G>C (p.Asp1036His) c.1426G>C (p.Asp476His) | |
| X | g.108625779G>T | CA413854732 | COL4A5 | c.3091G>T (p.Asp1031Tyr) n.2547G>T c.324G>T c.2767G>T (p.Asp923Tyr) c.664G>T (p.Asp222Tyr) c.3106G>T (p.Asp1036Tyr) c.1426G>T (p.Asp476Tyr) | |
| X | g.108625780A= | CA2450697918 | COL4A5 | c.3092A= (p.Asp1031=) n.2548A= c.325A= c.2768A= (p.Asp923=) c.665A= (p.Asp222=) c.3107A= (p.Asp1036=) c.1427A= (p.Asp476=) | |
| X | g.108625780A>C | CA413854734 | COL4A5 | c.3092A>C (p.Asp1031Ala) n.2548A>C c.325A>C c.2768A>C (p.Asp923Ala) c.665A>C (p.Asp222Ala) c.3107A>C (p.Asp1036Ala) c.1427A>C (p.Asp476Ala) | |
| X | g.108625780A>G | CA413854735 | COL4A5 | c.3092A>G (p.Asp1031Gly) n.2548A>G c.325A>G c.2768A>G (p.Asp923Gly) c.665A>G (p.Asp222Gly) c.3107A>G (p.Asp1036Gly) c.1427A>G (p.Asp476Gly) | dbSNP gnomAD v4 |
| X | g.108625780A>T | CA413854738 | COL4A5 | c.3092A>T (p.Asp1031Val) n.2548A>T c.325A>T c.2768A>T (p.Asp923Val) c.665A>T (p.Asp222Val) c.3107A>T (p.Asp1036Val) c.1427A>T (p.Asp476Val) | |
| X | g.108625782_108625783del | CA2695235753 | COL4A5 | c.3094_3095del (p.Met1032GlyfsTer?) n.2550_2551del c.327_328del c.2770_2771del (p.Met924GlyfsTer?) c.667_668del (p.Met223GlyfsTer?) c.3109_3110del (p.Met1037GlyfsTer?) c.1429_1430del (p.Met477GlyfsTer?) | |
| X | g.108625781T>A | CA413854740 | COL4A5 | c.3093T>A (p.Asp1031Glu) n.2549T>A c.326T>A c.2769T>A (p.Asp923Glu) c.666T>A (p.Asp222Glu) c.3108T>A (p.Asp1036Glu) c.1428T>A (p.Asp476Glu) |