Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.227056006_227056041dup | CA2739278761 | COL4A4 | c.2629_2664dup (p.Gly888_Ile889insArgProGlyAlaHisGlyProProGlyLeuProGly) c.2074_2109dup (p.Gly703_Ile704insArgProGlyAlaHisGlyProProGlyLeuProGly) c.2521_2556dup (p.Gly852_Ile853insArgProGlyAlaHisGlyProProGlyLeuProGly) c.955_990dup (p.Gly330_Ile331insArgProGlyAlaHisGlyProProGlyLeuProGly) n.2939_2974dup n.2955_2990dup | ClinVar |
2 | g.227056006_227056041del | CA915940414 | COL4A4 | c.2629_2664del (p.Arg877_Gly888del) c.2074_2109del (p.Arg692_Gly703del) c.2521_2556del (p.Arg841_Gly852del) c.955_990del (p.Arg319_Gly330del) n.2939_2974del n.2955_2990del | ClinVar dbSNP |
2 | g.227056013_227056039dup | CA16617486 | COL4A4 | c.2628_2654dup (p.Gly885_Leu886insArgProGlyAlaHisGlyProProGly) c.2073_2099dup (p.Gly700_Leu701insArgProGlyAlaHisGlyProProGly) c.2520_2546dup (p.Gly849_Leu850insArgProGlyAlaHisGlyProProGly) c.954_980dup (p.Gly327_Leu328insArgProGlyAlaHisGlyProProGly) n.2938_2964dup n.2954_2980dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056015_227056041dup | CA2144749 | COL4A4 | c.2621_2647dup (p.Gly882_Pro883insLeuProGlyArgProGlyAlaHisGly) c.2066_2092dup (p.Gly697_Pro698insLeuProGlyArgProGlyAlaHisGly) c.2513_2539dup (p.Gly846_Pro847insLeuProGlyArgProGlyAlaHisGly) c.947_973dup (p.Gly324_Pro325insLeuProGlyArgProGlyAlaHisGly) n.2931_2957dup n.2947_2973dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227056031C>A | CA350840977 | COL4A4 | c.2630G>T (p.Arg877Leu) c.2075G>T (p.Arg692Leu) c.2522G>T (p.Arg841Leu) c.956G>T (p.Arg319Leu) n.2940G>T n.2956G>T | |
2 | g.227056031C= | CA1332746351 | COL4A4 | c.2630G= (p.Arg877=) c.2075G= (p.Arg692=) c.2522G= (p.Arg841=) c.956G= (p.Arg319=) n.2940G= n.2956G= | |
2 | g.227056031C>G | CA350840978 | COL4A4 | c.2630G>C (p.Arg877Pro) c.2075G>C (p.Arg692Pro) c.2522G>C (p.Arg841Pro) c.956G>C (p.Arg319Pro) n.2940G>C n.2956G>C | |
2 | g.227056031C>T | CA2144755 | COL4A4 | c.2630G>A (p.Arg877Gln) c.2075G>A (p.Arg692Gln) c.2522G>A (p.Arg841Gln) c.956G>A (p.Arg319Gln) n.2940G>A n.2956G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056032G>A | CA2144756 | COL4A4 | c.2629C>T (p.Arg877Trp) c.2074C>T (p.Arg692Trp) c.2521C>T (p.Arg841Trp) c.955C>T (p.Arg319Trp) n.2939C>T n.2955C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056032G>C | CA350840979 | COL4A4 | c.2629C>G (p.Arg877Gly) c.2074C>G (p.Arg692Gly) c.2521C>G (p.Arg841Gly) c.955C>G (p.Arg319Gly) n.2939C>G n.2955C>G | |
2 | g.227056032G= | CA1332746352 | COL4A4 | c.2629C= (p.Arg877=) c.2074C= (p.Arg692=) c.2521C= (p.Arg841=) c.955C= (p.Arg319=) n.2939C= n.2955C= | |
2 | g.227056032G>T | CA431499418 | COL4A4 | c.2629C>A (p.Arg877=) c.2074C>A (p.Arg692=) c.2521C>A (p.Arg841=) c.955C>A (p.Arg319=) n.2939C>A n.2955C>A | |
2 | g.227056033T>A | CA431499419 | COL4A4 | c.2628A>T (p.Gly876=) c.2073A>T (p.Gly691=) c.2520A>T (p.Gly840=) c.954A>T (p.Gly318=) n.2938A>T n.2954A>T | |
2 | g.227056033T>C | CA2144757 | COL4A4 | c.2628A>G (p.Gly876=) c.2073A>G (p.Gly691=) c.2520A>G (p.Gly840=) c.954A>G (p.Gly318=) n.2938A>G n.2954A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227056033T>G | CA431499420 | COL4A4 | c.2628A>C (p.Gly876=) c.2073A>C (p.Gly691=) c.2520A>C (p.Gly840=) c.954A>C (p.Gly318=) n.2938A>C n.2954A>C | |
2 | g.227056033T= | CA1332746353 | COL4A4 | c.2628A= (p.Gly876=) c.2073A= (p.Gly691=) c.2520A= (p.Gly840=) c.954A= (p.Gly318=) n.2938A= n.2954A= | |
2 | g.227056034C>A | CA350840980 | COL4A4 | c.2627G>T (p.Gly876Val) c.2072G>T (p.Gly691Val) c.2519G>T (p.Gly840Val) c.953G>T (p.Gly318Val) n.2937G>T n.2953G>T | |
2 | g.227056034C>G | CA350840981 | COL4A4 | c.2627G>C (p.Gly876Ala) c.2072G>C (p.Gly691Ala) c.2519G>C (p.Gly840Ala) c.953G>C (p.Gly318Ala) n.2937G>C n.2953G>C | |
2 | g.227056034C>T | CA350840982 | COL4A4 | c.2627G>A (p.Gly876Glu) c.2072G>A (p.Gly691Glu) c.2519G>A (p.Gly840Glu) c.953G>A (p.Gly318Glu) n.2937G>A n.2953G>A | |
2 | g.227056035C>A | CA350840983 | COL4A4 | c.2626G>T (p.Gly876Ter) c.2071G>T (p.Gly691Ter) c.2518G>T (p.Gly840Ter) c.952G>T (p.Gly318Ter) n.2936G>T n.2952G>T | |
2 | g.227056035C>G | CA350840984 | COL4A4 | c.2626G>C (p.Gly876Arg) c.2071G>C (p.Gly691Arg) c.2518G>C (p.Gly840Arg) c.952G>C (p.Gly318Arg) n.2936G>C n.2952G>C | |
2 | g.227056035C>T | CA350840985 | COL4A4 | c.2626G>A (p.Gly876Arg) c.2071G>A (p.Gly691Arg) c.2518G>A (p.Gly840Arg) c.952G>A (p.Gly318Arg) n.2936G>A n.2952G>A | |
2 | g.227056036T>A | CA2144758 | COL4A4 | c.2625A>T (p.Pro875=) c.2070A>T (p.Pro690=) c.2517A>T (p.Pro839=) c.951A>T (p.Pro317=) n.2935A>T n.2951A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056036T>C | CA431499421 | COL4A4 | c.2625A>G (p.Pro875=) c.2070A>G (p.Pro690=) c.2517A>G (p.Pro839=) c.951A>G (p.Pro317=) n.2935A>G n.2951A>G | gnomAD v4 |
2 | g.227056036T>G | CA431499422 | COL4A4 | c.2625A>C (p.Pro875=) c.2070A>C (p.Pro690=) c.2517A>C (p.Pro839=) c.951A>C (p.Pro317=) n.2935A>C n.2951A>C | |
2 | g.227056036T= | CA1332746354 | COL4A4 | c.2625A= (p.Pro875=) c.2070A= (p.Pro690=) c.2517A= (p.Pro839=) c.951A= (p.Pro317=) n.2935A= n.2951A= | |
2 | g.227056037G>A | CA350840987 | COL4A4 | c.2624C>T (p.Pro875Leu) c.2069C>T (p.Pro690Leu) c.2516C>T (p.Pro839Leu) c.950C>T (p.Pro317Leu) n.2934C>T n.2950C>T | gnomAD v4 |
2 | g.227056037G>C | CA350840988 | COL4A4 | c.2624C>G (p.Pro875Arg) c.2069C>G (p.Pro690Arg) c.2516C>G (p.Pro839Arg) c.950C>G (p.Pro317Arg) n.2934C>G n.2950C>G | |
2 | g.227056037G>T | CA350840986 | COL4A4 | c.2624C>A (p.Pro875Gln) c.2069C>A (p.Pro690Gln) c.2516C>A (p.Pro839Gln) c.950C>A (p.Pro317Gln) n.2934C>A n.2950C>A | |
2 | g.227056039del | CA2695197694 | COL4A4 | c.2624del (p.Pro875GlnfsTer?) c.2069del (p.Pro690GlnfsTer?) c.2516del (p.Pro839GlnfsTer?) c.950del (p.Pro317GlnfsTer?) n.2934del n.2950del | ClinVar |
2 | g.227056038G>A | CA350840989 | COL4A4 | c.2623C>T (p.Pro875Ser) c.2068C>T (p.Pro690Ser) c.2515C>T (p.Pro839Ser) c.949C>T (p.Pro317Ser) n.2933C>T n.2949C>T | gnomAD v4 |
2 | g.227056038G>C | CA350840991 | COL4A4 | c.2623C>G (p.Pro875Ala) c.2068C>G (p.Pro690Ala) c.2515C>G (p.Pro839Ala) c.949C>G (p.Pro317Ala) n.2933C>G n.2949C>G | |
2 | g.227056038G>T | CA350840990 | COL4A4 | c.2623C>A (p.Pro875Thr) c.2068C>A (p.Pro690Thr) c.2515C>A (p.Pro839Thr) c.949C>A (p.Pro317Thr) n.2933C>A n.2949C>A | |
2 | g.227056039G>A | CA431499423 | COL4A4 | c.2622C>T (p.Leu874=) c.2067C>T (p.Leu689=) c.2514C>T (p.Leu838=) c.948C>T (p.Leu316=) n.2932C>T n.2948C>T | |
2 | g.227056039G>C | CA431499424 | COL4A4 | c.2622C>G (p.Leu874=) c.2067C>G (p.Leu689=) c.2514C>G (p.Leu838=) c.948C>G (p.Leu316=) n.2932C>G n.2948C>G | |
2 | g.227056039G>T | CA431499425 | COL4A4 | c.2622C>A (p.Leu874=) c.2067C>A (p.Leu689=) c.2514C>A (p.Leu838=) c.948C>A (p.Leu316=) n.2932C>A n.2948C>A | |
2 | g.227056040A>C | CA350840992 | COL4A4 | c.2621T>G (p.Leu874Arg) c.2066T>G (p.Leu689Arg) c.2513T>G (p.Leu838Arg) c.947T>G (p.Leu316Arg) n.2931T>G n.2947T>G | |
2 | g.227056040A>G | CA350840993 | COL4A4 | c.2621T>C (p.Leu874Pro) c.2066T>C (p.Leu689Pro) c.2513T>C (p.Leu838Pro) c.947T>C (p.Leu316Pro) n.2931T>C n.2947T>C | |
2 | g.227056040A>T | CA350840994 | COL4A4 | c.2621T>A (p.Leu874His) c.2066T>A (p.Leu689His) c.2513T>A (p.Leu838His) c.947T>A (p.Leu316His) n.2931T>A n.2947T>A | |
2 | g.227056041G>A | CA350840995 | COL4A4 | c.2620C>T (p.Leu874Phe) c.2065C>T (p.Leu689Phe) c.2512C>T (p.Leu838Phe) c.946C>T (p.Leu316Phe) n.2930C>T n.2946C>T | dbSNP gnomAD v4 COSMIC |
2 | g.227056041G>C | CA350840996 | COL4A4 | c.2620C>G (p.Leu874Val) c.2065C>G (p.Leu689Val) c.2512C>G (p.Leu838Val) c.946C>G (p.Leu316Val) n.2930C>G n.2946C>G | dbSNP gnomAD v4 |
2 | g.227056041G= | CA1332746355 | COL4A4 | c.2620C= (p.Leu874=) c.2065C= (p.Leu689=) c.2512C= (p.Leu838=) c.946C= (p.Leu316=) n.2930C= n.2946C= | |
2 | g.227056041G>T | CA350840997 | COL4A4 | c.2620C>A (p.Leu874Ile) c.2065C>A (p.Leu689Ile) c.2512C>A (p.Leu838Ile) c.946C>A (p.Leu316Ile) n.2930C>A n.2946C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056042T>A | CA431499427 | COL4A4 | c.2619A>T (p.Gly873=) c.2064A>T (p.Gly688=) c.2511A>T (p.Gly837=) c.945A>T (p.Gly315=) n.2929A>T n.2945A>T | ClinVar gnomAD v4 |
2 | g.227056042T>C | CA2144759 | COL4A4 | c.2619A>G (p.Gly873=) c.2064A>G (p.Gly688=) c.2511A>G (p.Gly837=) c.945A>G (p.Gly315=) n.2929A>G n.2945A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227056042T>G | CA431499426 | COL4A4 | c.2619A>C (p.Gly873=) c.2064A>C (p.Gly688=) c.2511A>C (p.Gly837=) c.945A>C (p.Gly315=) n.2929A>C n.2945A>C | |
2 | g.227056042T= | CA1332746356 | COL4A4 | c.2619A= (p.Gly873=) c.2064A= (p.Gly688=) c.2511A= (p.Gly837=) c.945A= (p.Gly315=) n.2929A= n.2945A= | |
2 | g.227056043C>A | CA350840998 | COL4A4 | c.2618G>T (p.Gly873Val) c.2063G>T (p.Gly688Val) c.2510G>T (p.Gly837Val) c.944G>T (p.Gly315Val) n.2928G>T n.2944G>T | |
2 | g.227056043C>G | CA350840999 | COL4A4 | c.2618G>C (p.Gly873Ala) c.2063G>C (p.Gly688Ala) c.2510G>C (p.Gly837Ala) c.944G>C (p.Gly315Ala) n.2928G>C n.2944G>C | |
2 | g.227056043C>T | CA350841000 | COL4A4 | c.2618G>A (p.Gly873Glu) c.2063G>A (p.Gly688Glu) c.2510G>A (p.Gly837Glu) c.944G>A (p.Gly315Glu) n.2928G>A n.2944G>A | COSMIC |
2 | g.227056044C>A | CA350841001 | COL4A4 | c.2617G>T (p.Gly873Ter) c.2062G>T (p.Gly688Ter) c.2509G>T (p.Gly837Ter) c.943G>T (p.Gly315Ter) n.2927G>T n.2943G>T | |
2 | g.227056044C= | CA1332746357 | COL4A4 | c.2617G= (p.Gly873=) c.2062G= (p.Gly688=) c.2509G= (p.Gly837=) c.943G= (p.Gly315=) n.2927G= n.2943G= | |
2 | g.227056044C>G | CA350841002 | COL4A4 | c.2617G>C (p.Gly873Arg) c.2062G>C (p.Gly688Arg) c.2509G>C (p.Gly837Arg) c.943G>C (p.Gly315Arg) n.2927G>C n.2943G>C | |
2 | g.227056044C>T | CA66585148 | COL4A4 | c.2617G>A (p.Gly873Arg) c.2062G>A (p.Gly688Arg) c.2509G>A (p.Gly837Arg) c.943G>A (p.Gly315Arg) n.2927G>A n.2943G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227056045G>A | CA66585155 | COL4A4 | c.2616C>T (p.Pro872=) c.2061C>T (p.Pro687=) c.2508C>T (p.Pro836=) c.942C>T (p.Pro314=) n.2926C>T n.2942C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227056045G>C | CA431499428 | COL4A4 | c.2616C>G (p.Pro872=) c.2061C>G (p.Pro687=) c.2508C>G (p.Pro836=) c.942C>G (p.Pro314=) n.2926C>G n.2942C>G | dbSNP |
2 | g.227056045G= | CA1332746358 | COL4A4 | c.2616C= (p.Pro872=) c.2061C= (p.Pro687=) c.2508C= (p.Pro836=) c.942C= (p.Pro314=) n.2926C= n.2942C= | |
2 | g.227056045G>T | CA431499429 | COL4A4 | c.2616C>A (p.Pro872=) c.2061C>A (p.Pro687=) c.2508C>A (p.Pro836=) c.942C>A (p.Pro314=) n.2926C>A n.2942C>A | |
2 | g.227056048del | CA2580065890 | COL4A4 | c.2616del (p.Gly873AspfsTer?) c.2061del (p.Gly688AspfsTer?) c.2508del (p.Gly837AspfsTer?) c.942del (p.Gly315AspfsTer?) n.2926del n.2942del | ClinVar gnomAD v4 |
2 | g.227056046G>A | CA350841003 | COL4A4 | c.2615C>T (p.Pro872Leu) c.2060C>T (p.Pro687Leu) c.2507C>T (p.Pro836Leu) c.941C>T (p.Pro314Leu) n.2925C>T n.2941C>T | |
2 | g.227056046G>C | CA350841005 | COL4A4 | c.2615C>G (p.Pro872Arg) c.2060C>G (p.Pro687Arg) c.2507C>G (p.Pro836Arg) c.941C>G (p.Pro314Arg) n.2925C>G n.2941C>G | |
2 | g.227056046G>T | CA350841004 | COL4A4 | c.2615C>A (p.Pro872His) c.2060C>A (p.Pro687His) c.2507C>A (p.Pro836His) c.941C>A (p.Pro314His) n.2925C>A n.2941C>A | |
2 | g.227056047G>A | CA350841006 | COL4A4 | c.2614C>T (p.Pro872Ser) c.2059C>T (p.Pro687Ser) c.2506C>T (p.Pro836Ser) c.940C>T (p.Pro314Ser) n.2924C>T n.2940C>T | dbSNP |
2 | g.227056047G>C | CA350841007 | COL4A4 | c.2614C>G (p.Pro872Ala) c.2059C>G (p.Pro687Ala) c.2506C>G (p.Pro836Ala) c.940C>G (p.Pro314Ala) n.2924C>G n.2940C>G | |
2 | g.227056047G= | CA1332746359 | COL4A4 | c.2614C= (p.Pro872=) c.2059C= (p.Pro687=) c.2506C= (p.Pro836=) c.940C= (p.Pro314=) n.2924C= n.2940C= | |
2 | g.227056047G>T | CA350841008 | COL4A4 | c.2614C>A (p.Pro872Thr) c.2059C>A (p.Pro687Thr) c.2506C>A (p.Pro836Thr) c.940C>A (p.Pro314Thr) n.2924C>A n.2940C>A | |
2 | g.227056048G>A | CA2144760 | COL4A4 | c.2613C>T (p.Leu871=) c.2058C>T (p.Leu686=) c.2505C>T (p.Leu835=) c.939C>T (p.Leu313=) n.2923C>T n.2939C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056048G>C | CA431499431 | COL4A4 | c.2613C>G (p.Leu871=) c.2058C>G (p.Leu686=) c.2505C>G (p.Leu835=) c.939C>G (p.Leu313=) n.2923C>G n.2939C>G | |
2 | g.227056048G= | CA1332746360 | COL4A4 | c.2613C= (p.Leu871=) c.2058C= (p.Leu686=) c.2505C= (p.Leu835=) c.939C= (p.Leu313=) n.2923C= n.2939C= | |
2 | g.227056048G>T | CA431499430 | COL4A4 | c.2613C>A (p.Leu871=) c.2058C>A (p.Leu686=) c.2505C>A (p.Leu835=) c.939C>A (p.Leu313=) n.2923C>A n.2939C>A | |
2 | g.227056049A>C | CA350841009 | COL4A4 | c.2612T>G (p.Leu871Arg) c.2057T>G (p.Leu686Arg) c.2504T>G (p.Leu835Arg) c.938T>G (p.Leu313Arg) n.2922T>G n.2938T>G | |
2 | g.227056049A>G | CA350841010 | COL4A4 | c.2612T>C (p.Leu871Pro) c.2057T>C (p.Leu686Pro) c.2504T>C (p.Leu835Pro) c.938T>C (p.Leu313Pro) n.2922T>C n.2938T>C | gnomAD v4 |
2 | g.227056049A>T | CA350841011 | COL4A4 | c.2612T>A (p.Leu871His) c.2057T>A (p.Leu686His) c.2504T>A (p.Leu835His) c.938T>A (p.Leu313His) n.2922T>A n.2938T>A | |
2 | g.227056050G>A | CA66585160 | COL4A4 | c.2611C>T (p.Leu871Phe) c.2056C>T (p.Leu686Phe) c.2503C>T (p.Leu835Phe) c.937C>T (p.Leu313Phe) n.2921C>T n.2937C>T | ClinVar dbSNP |
2 | g.227056050G>C | CA350841012 | COL4A4 | c.2611C>G (p.Leu871Val) c.2056C>G (p.Leu686Val) c.2503C>G (p.Leu835Val) c.937C>G (p.Leu313Val) n.2921C>G n.2937C>G | |
2 | g.227056050G= | CA1332746361 | COL4A4 | c.2611C= (p.Leu871=) c.2056C= (p.Leu686=) c.2503C= (p.Leu835=) c.937C= (p.Leu313=) n.2921C= n.2937C= | |
2 | g.227056050G>T | CA350841013 | COL4A4 | c.2611C>A (p.Leu871Ile) c.2056C>A (p.Leu686Ile) c.2503C>A (p.Leu835Ile) c.937C>A (p.Leu313Ile) n.2921C>A n.2937C>A | COSMIC |
2 | g.227056051G>A | CA431499432 | COL4A4 | c.2610C>T (p.Gly870=) c.2055C>T (p.Gly685=) c.2502C>T (p.Gly834=) c.936C>T (p.Gly312=) n.2920C>T n.2936C>T | dbSNP |
2 | g.227056051G>C | CA431499433 | COL4A4 | c.2610C>G (p.Gly870=) c.2055C>G (p.Gly685=) c.2502C>G (p.Gly834=) c.936C>G (p.Gly312=) n.2920C>G n.2936C>G | |
2 | g.227056051G= | CA1332746362 | COL4A4 | c.2610C= (p.Gly870=) c.2055C= (p.Gly685=) c.2502C= (p.Gly834=) c.936C= (p.Gly312=) n.2920C= n.2936C= | |
2 | g.227056051G>T | CA2144761 | COL4A4 | c.2610C>A (p.Gly870=) c.2055C>A (p.Gly685=) c.2502C>A (p.Gly834=) c.936C>A (p.Gly312=) n.2920C>A n.2936C>A | dbSNP ExAC gnomAD v2 |
2 | g.227056052C>A | CA350841016 | COL4A4 | c.2609G>T (p.Gly870Val) c.2054G>T (p.Gly685Val) c.2501G>T (p.Gly834Val) c.935G>T (p.Gly312Val) n.2919G>T n.2935G>T | |
2 | g.227056052C>G | CA350841014 | COL4A4 | c.2609G>C (p.Gly870Ala) c.2054G>C (p.Gly685Ala) c.2501G>C (p.Gly834Ala) c.935G>C (p.Gly312Ala) n.2919G>C n.2935G>C | |
2 | g.227056052C>T | CA350841015 | COL4A4 | c.2609G>A (p.Gly870Asp) c.2054G>A (p.Gly685Asp) c.2501G>A (p.Gly834Asp) c.935G>A (p.Gly312Asp) n.2919G>A n.2935G>A | |
2 | g.227056053C>A | CA350841017 | COL4A4 | c.2608G>T (p.Gly870Cys) c.2053G>T (p.Gly685Cys) c.2500G>T (p.Gly834Cys) c.934G>T (p.Gly312Cys) n.2918G>T n.2934G>T | |
2 | g.227056053C>G | CA350841018 | COL4A4 | c.2608G>C (p.Gly870Arg) c.2053G>C (p.Gly685Arg) c.2500G>C (p.Gly834Arg) c.934G>C (p.Gly312Arg) n.2918G>C n.2934G>C | dbSNP gnomAD v4 |
2 | g.227056053C>T | CA350841019 | COL4A4 | c.2608G>A (p.Gly870Ser) c.2053G>A (p.Gly685Ser) c.2500G>A (p.Gly834Ser) c.934G>A (p.Gly312Ser) n.2918G>A n.2934G>A | ClinVar gnomAD v4 |
2 | g.227056054T>A | CA350841020 | COL4A4 | c.2607A>T (p.Lys869Asn) c.2052A>T (p.Lys684Asn) c.2499A>T (p.Lys833Asn) c.933A>T (p.Lys311Asn) n.2917A>T n.2933A>T | |
2 | g.227056054T>C | CA431499434 | COL4A4 | c.2607A>G (p.Lys869=) c.2052A>G (p.Lys684=) c.2499A>G (p.Lys833=) c.933A>G (p.Lys311=) n.2917A>G n.2933A>G | ClinVar dbSNP gnomAD v4 |
2 | g.227056054T>G | CA350841021 | COL4A4 | c.2607A>C (p.Lys869Asn) c.2052A>C (p.Lys684Asn) c.2499A>C (p.Lys833Asn) c.933A>C (p.Lys311Asn) n.2917A>C n.2933A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227056054T= | CA1332746363 | COL4A4 | c.2607A= (p.Lys869=) c.2052A= (p.Lys684=) c.2499A= (p.Lys833=) c.933A= (p.Lys311=) n.2917A= n.2933A= | |
2 | g.227056055T>A | CA350841022 | COL4A4 | c.2606A>T (p.Lys869Ile) c.2051A>T (p.Lys684Ile) c.2498A>T (p.Lys833Ile) c.932A>T (p.Lys311Ile) n.2916A>T n.2932A>T | |
2 | g.227056055T>C | CA350841023 | COL4A4 | c.2606A>G (p.Lys869Arg) c.2051A>G (p.Lys684Arg) c.2498A>G (p.Lys833Arg) c.932A>G (p.Lys311Arg) n.2916A>G n.2932A>G | |
2 | g.227056055T>G | CA350841024 | COL4A4 | c.2606A>C (p.Lys869Thr) c.2051A>C (p.Lys684Thr) c.2498A>C (p.Lys833Thr) c.932A>C (p.Lys311Thr) n.2916A>C n.2932A>C | |
2 | g.227056056T>A | CA350841025 | COL4A4 | c.2605A>T (p.Lys869Ter) c.2050A>T (p.Lys684Ter) c.2497A>T (p.Lys833Ter) c.931A>T (p.Lys311Ter) n.2915A>T n.2931A>T | |
2 | g.227056056T>C | CA350841026 | COL4A4 | c.2605A>G (p.Lys869Glu) c.2050A>G (p.Lys684Glu) c.2497A>G (p.Lys833Glu) c.931A>G (p.Lys311Glu) n.2915A>G n.2931A>G | |
2 | g.227056056T>G | CA350841027 | COL4A4 | c.2605A>C (p.Lys869Gln) c.2050A>C (p.Lys684Gln) c.2497A>C (p.Lys833Gln) c.931A>C (p.Lys311Gln) n.2915A>C n.2931A>C | |
2 | g.227056057C>A | CA350841030 | COL4A4 | c.2604G>T (p.Met868Ile) c.2049G>T (p.Met683Ile) c.2496G>T (p.Met832Ile) c.930G>T (p.Met310Ile) n.2914G>T n.2930G>T | dbSNP gnomAD v4 |
2 | g.227056057C= | CA1332746364 | COL4A4 | c.2604G= (p.Met868=) c.2049G= (p.Met683=) c.2496G= (p.Met832=) c.930G= (p.Met310=) n.2914G= n.2930G= | |
2 | g.227056057C>G | CA350841028 | COL4A4 | c.2604G>C (p.Met868Ile) c.2049G>C (p.Met683Ile) c.2496G>C (p.Met832Ile) c.930G>C (p.Met310Ile) n.2914G>C n.2930G>C | gnomAD v4 |
2 | g.227056057C>T | CA350841029 | COL4A4 | c.2604G>A (p.Met868Ile) c.2049G>A (p.Met683Ile) c.2496G>A (p.Met832Ile) c.930G>A (p.Met310Ile) n.2914G>A n.2930G>A | COSMIC |
2 | g.227056058A= | CA1332746365 | COL4A4 | c.2603T= (p.Met868=) c.2048T= (p.Met683=) c.2495T= (p.Met832=) c.929T= (p.Met310=) n.2913T= n.2929T= | |
2 | g.227056058A>C | CA350841031 | COL4A4 | c.2603T>G (p.Met868Arg) c.2048T>G (p.Met683Arg) c.2495T>G (p.Met832Arg) c.929T>G (p.Met310Arg) n.2913T>G n.2929T>G | gnomAD v4 |
2 | g.227056058A>G | CA350841032 | COL4A4 | c.2603T>C (p.Met868Thr) c.2048T>C (p.Met683Thr) c.2495T>C (p.Met832Thr) c.929T>C (p.Met310Thr) n.2913T>C n.2929T>C | dbSNP gnomAD v2 |
2 | g.227056058A>T | CA350841033 | COL4A4 | c.2603T>A (p.Met868Lys) c.2048T>A (p.Met683Lys) c.2495T>A (p.Met832Lys) c.929T>A (p.Met310Lys) n.2913T>A n.2929T>A | |
2 | g.227056059T>A | CA350841034 | COL4A4 | c.2602A>T (p.Met868Leu) c.2047A>T (p.Met683Leu) c.2494A>T (p.Met832Leu) c.928A>T (p.Met310Leu) n.2912A>T n.2928A>T | |
2 | g.227056059T>C | CA350841035 | COL4A4 | c.2602A>G (p.Met868Val) c.2047A>G (p.Met683Val) c.2494A>G (p.Met832Val) c.928A>G (p.Met310Val) n.2912A>G n.2928A>G | |
2 | g.227056059T>G | CA350841036 | COL4A4 | c.2602A>C (p.Met868Leu) c.2047A>C (p.Met683Leu) c.2494A>C (p.Met832Leu) c.928A>C (p.Met310Leu) n.2912A>C n.2928A>C | |
2 | g.227056060T>A | CA431499435 | COL4A4 | c.2601A>T (p.Gly867=) c.2046A>T (p.Gly682=) c.2493A>T (p.Gly831=) c.927A>T (p.Gly309=) n.2911A>T n.2927A>T | |
2 | g.227056060T>C | CA431499436 | COL4A4 | c.2601A>G (p.Gly867=) c.2046A>G (p.Gly682=) c.2493A>G (p.Gly831=) c.927A>G (p.Gly309=) n.2911A>G n.2927A>G | |
2 | g.227056060T>G | CA431499437 | COL4A4 | c.2601A>C (p.Gly867=) c.2046A>C (p.Gly682=) c.2493A>C (p.Gly831=) c.927A>C (p.Gly309=) n.2911A>C n.2927A>C | |
2 | g.227056061C>A | CA350841037 | COL4A4 | c.2600G>T (p.Gly867Val) c.2045G>T (p.Gly682Val) c.2492G>T (p.Gly831Val) c.926G>T (p.Gly309Val) n.2910G>T n.2926G>T | |
2 | g.227056061C>G | CA350841038 | COL4A4 | c.2600G>C (p.Gly867Ala) c.2045G>C (p.Gly682Ala) c.2492G>C (p.Gly831Ala) c.926G>C (p.Gly309Ala) n.2910G>C n.2926G>C | |
2 | g.227056061C>T | CA350841039 | COL4A4 | c.2600G>A (p.Gly867Glu) c.2045G>A (p.Gly682Glu) c.2492G>A (p.Gly831Glu) c.926G>A (p.Gly309Glu) n.2910G>A n.2926G>A | COSMIC |
2 | g.227056062C>A | CA350841040 | COL4A4 | c.2599G>T (p.Gly867Ter) c.2044G>T (p.Gly682Ter) c.2491G>T (p.Gly831Ter) c.925G>T (p.Gly309Ter) n.2909G>T n.2925G>T | ClinVar dbSNP |
2 | g.227056062C= | CA1332746366 | COL4A4 | c.2599G= (p.Gly867=) c.2044G= (p.Gly682=) c.2491G= (p.Gly831=) c.925G= (p.Gly309=) n.2909G= n.2925G= | |
2 | g.227056062C>G | CA350841041 | COL4A4 | c.2599G>C (p.Gly867Arg) c.2044G>C (p.Gly682Arg) c.2491G>C (p.Gly831Arg) c.925G>C (p.Gly309Arg) n.2909G>C n.2925G>C | COSMIC |
2 | g.227056062C>T | CA2144762 | COL4A4 | c.2599G>A (p.Gly867Arg) c.2044G>A (p.Gly682Arg) c.2491G>A (p.Gly831Arg) c.925G>A (p.Gly309Arg) n.2909G>A n.2925G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227056063A>C | CA431499438 | COL4A4 | c.2598T>G (p.Ala866=) c.2043T>G (p.Ala681=) c.2490T>G (p.Ala830=) c.924T>G (p.Ala308=) n.2908T>G n.2924T>G | |
2 | g.227056063A>G | CA431499439 | COL4A4 | c.2598T>C (p.Ala866=) c.2043T>C (p.Ala681=) c.2490T>C (p.Ala830=) c.924T>C (p.Ala308=) n.2908T>C n.2924T>C | |
2 | g.227056063A>T | CA431499440 | COL4A4 | c.2598T>A (p.Ala866=) c.2043T>A (p.Ala681=) c.2490T>A (p.Ala830=) c.924T>A (p.Ala308=) n.2908T>A n.2924T>A | |
2 | g.227056064G>A | CA350841043 | COL4A4 | c.2597C>T (p.Ala866Val) c.2042C>T (p.Ala681Val) c.2489C>T (p.Ala830Val) c.923C>T (p.Ala308Val) n.2907C>T n.2923C>T | |
2 | g.227056064G>C | CA350841044 | COL4A4 | c.2597C>G (p.Ala866Gly) c.2042C>G (p.Ala681Gly) c.2489C>G (p.Ala830Gly) c.923C>G (p.Ala308Gly) n.2907C>G n.2923C>G | |
2 | g.227056064G>T | CA350841042 | COL4A4 | c.2597C>A (p.Ala866Asp) c.2042C>A (p.Ala681Asp) c.2489C>A (p.Ala830Asp) c.923C>A (p.Ala308Asp) n.2907C>A n.2923C>A | |
2 | g.227056065C>A | CA66585165 | COL4A4 | c.2596G>T (p.Ala866Ser) c.2041G>T (p.Ala681Ser) c.2488G>T (p.Ala830Ser) c.922G>T (p.Ala308Ser) n.2906G>T n.2922G>T | dbSNP |
2 | g.227056065C= | CA1332746367 | COL4A4 | c.2596G= (p.Ala866=) c.2041G= (p.Ala681=) c.2488G= (p.Ala830=) c.922G= (p.Ala308=) n.2906G= n.2922G= | |
2 | g.227056065C>G | CA350841045 | COL4A4 | c.2596G>C (p.Ala866Pro) c.2041G>C (p.Ala681Pro) c.2488G>C (p.Ala830Pro) c.922G>C (p.Ala308Pro) n.2906G>C n.2922G>C | |
2 | g.227056065C>T | CA350841046 | COL4A4 | c.2596G>A (p.Ala866Thr) c.2041G>A (p.Ala681Thr) c.2488G>A (p.Ala830Thr) c.922G>A (p.Ala308Thr) n.2906G>A n.2922G>A | dbSNP |
2 | g.227056066T>A | CA2144763 | COL4A4 | c.2595A>T (p.Pro865=) c.2040A>T (p.Pro680=) c.2487A>T (p.Pro829=) c.921A>T (p.Pro307=) n.2905A>T n.2921A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056066T>C | CA431499441 | COL4A4 | c.2595A>G (p.Pro865=) c.2040A>G (p.Pro680=) c.2487A>G (p.Pro829=) c.921A>G (p.Pro307=) n.2905A>G n.2921A>G | |
2 | g.227056066T>G | CA431499442 | COL4A4 | c.2595A>C (p.Pro865=) c.2040A>C (p.Pro680=) c.2487A>C (p.Pro829=) c.921A>C (p.Pro307=) n.2905A>C n.2921A>C | |
2 | g.227056066T= | CA1332746368 | COL4A4 | c.2595A= (p.Pro865=) c.2040A= (p.Pro680=) c.2487A= (p.Pro829=) c.921A= (p.Pro307=) n.2905A= n.2921A= | |
2 | g.227056066_227056075delinsTGGCCCGGGA | CA1332746369 | COL4A4 | c.2586_2595delinsTCCCGGGCCA (p.Pro862=) c.2031_2040delinsTCCCGGGCCA (p.Pro677=) c.2478_2487delinsTCCCGGGCCA (p.Pro826=) c.912_921delinsTCCCGGGCCA (p.Pro304=) n.2896_2905delinsTCCCGGGCCA n.2912_2921delinsTCCCGGGCCA | |
2 | g.227056067G>A | CA350841047 | COL4A4 | c.2594C>T (p.Pro865Leu) c.2039C>T (p.Pro680Leu) c.2486C>T (p.Pro829Leu) c.920C>T (p.Pro307Leu) n.2904C>T n.2920C>T | COSMIC |
2 | g.227056067G>C | CA350841048 | COL4A4 | c.2594C>G (p.Pro865Arg) c.2039C>G (p.Pro680Arg) c.2486C>G (p.Pro829Arg) c.920C>G (p.Pro307Arg) n.2904C>G n.2920C>G | |
2 | g.227056067G>T | CA350841049 | COL4A4 | c.2594C>A (p.Pro865Gln) c.2039C>A (p.Pro680Gln) c.2486C>A (p.Pro829Gln) c.920C>A (p.Pro307Gln) n.2904C>A n.2920C>A | |
2 | g.227056068del | CA2499215714 | COL4A4 | c.2594del (p.Pro865GlnfsTer4) c.2039del (p.Pro680GlnfsTer4) c.2486del (p.Pro829GlnfsTer4) c.920del (p.Pro307GlnfsTer4) n.2904del n.2920del | ClinVar dbSNP |
2 | g.227056072_227056080del | CA431499443 | COL4A4 | c.2586_2594del (p.Pro863_Pro865del) c.2031_2039del (p.Pro678_Pro680del) c.2478_2486del (p.Pro827_Pro829del) c.912_920del (p.Pro305_Pro307del) n.2896_2904del n.2912_2920del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227056068G>A | CA350841050 | COL4A4 | c.2593C>T (p.Pro865Ser) c.2038C>T (p.Pro680Ser) c.2485C>T (p.Pro829Ser) c.919C>T (p.Pro307Ser) n.2903C>T n.2919C>T | COSMIC |
2 | g.227056068G>C | CA350841051 | COL4A4 | c.2593C>G (p.Pro865Ala) c.2038C>G (p.Pro680Ala) c.2485C>G (p.Pro829Ala) c.919C>G (p.Pro307Ala) n.2903C>G n.2919C>G | |
2 | g.227056068G= | CA1332746370 | COL4A4 | c.2593C= (p.Pro865=) c.2038C= (p.Pro680=) c.2485C= (p.Pro829=) c.919C= (p.Pro307=) n.2903C= n.2919C= | |
2 | g.227056068G>T | CA2144764 | COL4A4 | c.2593C>A (p.Pro865Thr) c.2038C>A (p.Pro680Thr) c.2485C>A (p.Pro829Thr) c.919C>A (p.Pro307Thr) n.2903C>A n.2919C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227056069C>A | CA431499444 | COL4A4 | c.2592G>T (p.Gly864=) c.2037G>T (p.Gly679=) c.2484G>T (p.Gly828=) c.918G>T (p.Gly306=) n.2902G>T n.2918G>T | |
2 | g.227056069C>G | CA431499445 | COL4A4 | c.2592G>C (p.Gly864=) c.2037G>C (p.Gly679=) c.2484G>C (p.Gly828=) c.918G>C (p.Gly306=) n.2902G>C n.2918G>C | |
2 | g.227056069C>T | CA431499446 | COL4A4 | c.2592G>A (p.Gly864=) c.2037G>A (p.Gly679=) c.2484G>A (p.Gly828=) c.918G>A (p.Gly306=) n.2902G>A n.2918G>A | |
2 | g.227056070C>A | CA350841052 | COL4A4 | c.2591G>T (p.Gly864Val) c.2036G>T (p.Gly679Val) c.2483G>T (p.Gly828Val) c.917G>T (p.Gly306Val) n.2901G>T n.2917G>T | |
2 | g.227056070C>G | CA350841053 | COL4A4 | c.2591G>C (p.Gly864Ala) c.2036G>C (p.Gly679Ala) c.2483G>C (p.Gly828Ala) c.917G>C (p.Gly306Ala) n.2901G>C n.2917G>C | |
2 | g.227056070C>T | CA350841054 | COL4A4 | c.2591G>A (p.Gly864Glu) c.2036G>A (p.Gly679Glu) c.2483G>A (p.Gly828Glu) c.917G>A (p.Gly306Glu) n.2901G>A n.2917G>A | COSMIC |
2 | g.227056071C>A | CA350841055 | COL4A4 | c.2590G>T (p.Gly864Trp) c.2035G>T (p.Gly679Trp) c.2482G>T (p.Gly828Trp) c.916G>T (p.Gly306Trp) n.2900G>T n.2916G>T | COSMIC |
2 | g.227056071C= | CA1332746371 | COL4A4 | c.2590G= (p.Gly864=) c.2035G= (p.Gly679=) c.2482G= (p.Gly828=) c.916G= (p.Gly306=) n.2900G= n.2916G= | |
2 | g.227056071C>G | CA350841056 | COL4A4 | c.2590G>C (p.Gly864Arg) c.2035G>C (p.Gly679Arg) c.2482G>C (p.Gly828Arg) c.916G>C (p.Gly306Arg) n.2900G>C n.2916G>C | gnomAD v4 |
2 | g.227056071C>T | CA66585193 | COL4A4 | c.2590G>A (p.Gly864Arg) c.2035G>A (p.Gly679Arg) c.2482G>A (p.Gly828Arg) c.916G>A (p.Gly306Arg) n.2900G>A n.2916G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.227056072G>A | CA2144765 | COL4A4 | c.2589C>T (p.Pro863=) c.2034C>T (p.Pro678=) c.2481C>T (p.Pro827=) c.915C>T (p.Pro305=) n.2899C>T n.2915C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056072G>C | CA431499447 | COL4A4 | c.2589C>G (p.Pro863=) c.2034C>G (p.Pro678=) c.2481C>G (p.Pro827=) c.915C>G (p.Pro305=) n.2899C>G n.2915C>G | |
2 | g.227056072G= | CA1332746372 | COL4A4 | c.2589C= (p.Pro863=) c.2034C= (p.Pro678=) c.2481C= (p.Pro827=) c.915C= (p.Pro305=) n.2899C= n.2915C= | |
2 | g.227056072G>T | CA431499448 | COL4A4 | c.2589C>A (p.Pro863=) c.2034C>A (p.Pro678=) c.2481C>A (p.Pro827=) c.915C>A (p.Pro305=) n.2899C>A n.2915C>A | dbSNP |
2 | g.227056073G>A | CA350841057 | COL4A4 | c.2588C>T (p.Pro863Leu) c.2033C>T (p.Pro678Leu) c.2480C>T (p.Pro827Leu) c.914C>T (p.Pro305Leu) n.2898C>T n.2914C>T | |
2 | g.227056073G>C | CA350841058 | COL4A4 | c.2588C>G (p.Pro863Arg) c.2033C>G (p.Pro678Arg) c.2480C>G (p.Pro827Arg) c.914C>G (p.Pro305Arg) n.2898C>G n.2914C>G | |
2 | g.227056073G= | CA1332746373 | COL4A4 | c.2588C= (p.Pro863=) c.2033C= (p.Pro678=) c.2480C= (p.Pro827=) c.914C= (p.Pro305=) n.2898C= n.2914C= | |
2 | g.227056073G>T | CA350841059 | COL4A4 | c.2588C>A (p.Pro863His) c.2033C>A (p.Pro678His) c.2480C>A (p.Pro827His) c.914C>A (p.Pro305His) n.2898C>A n.2914C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227056074G>A | CA2144766 | COL4A4 | c.2587C>T (p.Pro863Ser) c.2032C>T (p.Pro678Ser) c.2479C>T (p.Pro827Ser) c.913C>T (p.Pro305Ser) n.2897C>T n.2913C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.227056074G>C | CA350841060 | COL4A4 | c.2587C>G (p.Pro863Ala) c.2032C>G (p.Pro678Ala) c.2479C>G (p.Pro827Ala) c.913C>G (p.Pro305Ala) n.2897C>G n.2913C>G | |
2 | g.227056074G= | CA1332746374 | COL4A4 | c.2587C= (p.Pro863=) c.2032C= (p.Pro678=) c.2479C= (p.Pro827=) c.913C= (p.Pro305=) n.2897C= n.2913C= | |
2 | g.227056074G>T | CA350841061 | COL4A4 | c.2587C>A (p.Pro863Thr) c.2032C>A (p.Pro678Thr) c.2479C>A (p.Pro827Thr) c.913C>A (p.Pro305Thr) n.2897C>A n.2913C>A | |
2 | g.227056075A= | CA1332746375 | COL4A4 | c.2586T= (p.Pro862=) c.2031T= (p.Pro677=) c.2478T= (p.Pro826=) c.912T= (p.Pro304=) n.2896T= n.2912T= | |
2 | g.227056075A>C | CA431499449 | COL4A4 | c.2586T>G (p.Pro862=) c.2031T>G (p.Pro677=) c.2478T>G (p.Pro826=) c.912T>G (p.Pro304=) n.2896T>G n.2912T>G | |
2 | g.227056075A>G | CA2144767 | COL4A4 | c.2586T>C (p.Pro862=) c.2031T>C (p.Pro677=) c.2478T>C (p.Pro826=) c.912T>C (p.Pro304=) n.2896T>C n.2912T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056075A>T | CA431499450 | COL4A4 | c.2586T>A (p.Pro862=) c.2031T>A (p.Pro677=) c.2478T>A (p.Pro826=) c.912T>A (p.Pro304=) n.2896T>A n.2912T>A | |
2 | g.227056076G>A | CA350841062 | COL4A4 | c.2585C>T (p.Pro862Leu) c.2030C>T (p.Pro677Leu) c.2477C>T (p.Pro826Leu) c.911C>T (p.Pro304Leu) n.2895C>T n.2911C>T | |
2 | g.227056076G>C | CA2144768 | COL4A4 | c.2585C>G (p.Pro862Arg) c.2030C>G (p.Pro677Arg) c.2477C>G (p.Pro826Arg) c.911C>G (p.Pro304Arg) n.2895C>G n.2911C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227056076G= | CA1332746376 | COL4A4 | c.2585C= (p.Pro862=) c.2030C= (p.Pro677=) c.2477C= (p.Pro826=) c.911C= (p.Pro304=) n.2895C= n.2911C= | |
2 | g.227056076G>T | CA350841063 | COL4A4 | c.2585C>A (p.Pro862His) c.2030C>A (p.Pro677His) c.2477C>A (p.Pro826His) c.911C>A (p.Pro304His) n.2895C>A n.2911C>A | |
2 | g.227056077G>A | CA350841064 | COL4A4 | c.2584C>T (p.Pro862Ser) c.2029C>T (p.Pro677Ser) c.2476C>T (p.Pro826Ser) c.910C>T (p.Pro304Ser) n.2894C>T n.2910C>T | dbSNP |
2 | g.227056077G>C | CA350841065 | COL4A4 | c.2584C>G (p.Pro862Ala) c.2029C>G (p.Pro677Ala) c.2476C>G (p.Pro826Ala) c.910C>G (p.Pro304Ala) n.2894C>G n.2910C>G | |
2 | g.227056077G= | CA1332746377 | COL4A4 | c.2584C= (p.Pro862=) c.2029C= (p.Pro677=) c.2476C= (p.Pro826=) c.910C= (p.Pro304=) n.2894C= n.2910C= | |
2 | g.227056077G>T | CA350841066 | COL4A4 | c.2584C>A (p.Pro862Thr) c.2029C>A (p.Pro677Thr) c.2476C>A (p.Pro826Thr) c.910C>A (p.Pro304Thr) n.2894C>A n.2910C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227056078C>A | CA431499453 | COL4A4 | c.2583G>T (p.Gly861=) c.2028G>T (p.Gly676=) c.2475G>T (p.Gly825=) c.909G>T (p.Gly303=) n.2893G>T n.2909G>T | |
2 | g.227056078C>G | CA431499452 | COL4A4 | c.2583G>C (p.Gly861=) c.2028G>C (p.Gly676=) c.2475G>C (p.Gly825=) c.909G>C (p.Gly303=) n.2893G>C n.2909G>C | ClinVar |
2 | g.227056078C>T | CA431499451 | COL4A4 | c.2583G>A (p.Gly861=) c.2028G>A (p.Gly676=) c.2475G>A (p.Gly825=) c.909G>A (p.Gly303=) n.2893G>A n.2909G>A | ClinVar |
2 | g.227056079C>A | CA350841068 | COL4A4 | c.2582G>T (p.Gly861Val) c.2027G>T (p.Gly676Val) c.2474G>T (p.Gly825Val) c.908G>T (p.Gly303Val) n.2892G>T n.2908G>T | |
2 | g.227056079C>G | CA350841069 | COL4A4 | c.2582G>C (p.Gly861Ala) c.2027G>C (p.Gly676Ala) c.2474G>C (p.Gly825Ala) c.908G>C (p.Gly303Ala) n.2892G>C n.2908G>C | |
2 | g.227056079C>T | CA350841067 | COL4A4 | c.2582G>A (p.Gly861Glu) c.2027G>A (p.Gly676Glu) c.2474G>A (p.Gly825Glu) c.908G>A (p.Gly303Glu) n.2892G>A n.2908G>A | |
2 | g.227056080C>A | CA350841070 | COL4A4 | c.2581G>T (p.Gly861Trp) c.2026G>T (p.Gly676Trp) c.2473G>T (p.Gly825Trp) c.907G>T (p.Gly303Trp) n.2891G>T n.2907G>T | |
2 | g.227056080C>G | CA350841071 | COL4A4 | c.2581G>C (p.Gly861Arg) c.2026G>C (p.Gly676Arg) c.2473G>C (p.Gly825Arg) c.907G>C (p.Gly303Arg) n.2891G>C n.2907G>C | |
2 | g.227056080C>T | CA350841072 | COL4A4 | c.2581G>A (p.Gly861Arg) c.2026G>A (p.Gly676Arg) c.2473G>A (p.Gly825Arg) c.907G>A (p.Gly303Arg) n.2891G>A n.2907G>A | |
2 | g.227056081C>A | CA431499454 | COL4A4 | c.2580G>T (p.Val860=) c.2025G>T (p.Val675=) c.2472G>T (p.Val824=) c.906G>T (p.Val302=) n.2890G>T n.2906G>T | |
2 | g.227056081C>G | CA431499455 | COL4A4 | c.2580G>C (p.Val860=) c.2025G>C (p.Val675=) c.2472G>C (p.Val824=) c.906G>C (p.Val302=) n.2890G>C n.2906G>C | |
2 | g.227056081C>T | CA431499456 | COL4A4 | c.2580G>A (p.Val860=) c.2025G>A (p.Val675=) c.2472G>A (p.Val824=) c.906G>A (p.Val302=) n.2890G>A n.2906G>A | |
2 | g.227056082A= | CA1332746378 | COL4A4 | c.2579T= (p.Val860=) c.2024T= (p.Val675=) c.2471T= (p.Val824=) c.905T= (p.Val302=) n.2889T= n.2905T= | |
2 | g.227056082A>C | CA2144769 | COL4A4 | c.2579T>G (p.Val860Gly) c.2024T>G (p.Val675Gly) c.2471T>G (p.Val824Gly) c.905T>G (p.Val302Gly) n.2889T>G n.2905T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056082A>G | CA350841073 | COL4A4 | c.2579T>C (p.Val860Ala) c.2024T>C (p.Val675Ala) c.2471T>C (p.Val824Ala) c.905T>C (p.Val302Ala) n.2889T>C n.2905T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056082A>T | CA350841074 | COL4A4 | c.2579T>A (p.Val860Glu) c.2024T>A (p.Val675Glu) c.2471T>A (p.Val824Glu) c.905T>A (p.Val302Glu) n.2889T>A n.2905T>A | |
2 | g.227056083C>A | CA350841077 | COL4A4 | c.2578G>T (p.Val860Leu) c.2023G>T (p.Val675Leu) c.2470G>T (p.Val824Leu) c.904G>T (p.Val302Leu) n.2888G>T n.2904G>T | |
2 | g.227056083C>G | CA350841075 | COL4A4 | c.2578G>C (p.Val860Leu) c.2023G>C (p.Val675Leu) c.2470G>C (p.Val824Leu) c.904G>C (p.Val302Leu) n.2888G>C n.2904G>C | |
2 | g.227056083C>T | CA350841076 | COL4A4 | c.2578G>A (p.Val860Met) c.2023G>A (p.Val675Met) c.2470G>A (p.Val824Met) c.904G>A (p.Val302Met) n.2888G>A n.2904G>A | gnomAD v4 |
2 | g.227056084A= | CA1332746379 | COL4A4 | c.2577T= (p.Asp859=) c.2022T= (p.Asp674=) c.2469T= (p.Asp823=) c.903T= (p.Asp301=) n.2887T= n.2903T= | |
2 | g.227056084A>C | CA350841078 | COL4A4 | c.2577T>G (p.Asp859Glu) c.2022T>G (p.Asp674Glu) c.2469T>G (p.Asp823Glu) c.903T>G (p.Asp301Glu) n.2887T>G n.2903T>G | |
2 | g.227056084A>G | CA431499457 | COL4A4 | c.2577T>C (p.Asp859=) c.2022T>C (p.Asp674=) c.2469T>C (p.Asp823=) c.903T>C (p.Asp301=) n.2887T>C n.2903T>C | dbSNP |
2 | g.227056084A>T | CA350841079 | COL4A4 | c.2577T>A (p.Asp859Glu) c.2022T>A (p.Asp674Glu) c.2469T>A (p.Asp823Glu) c.903T>A (p.Asp301Glu) n.2887T>A n.2903T>A | |
2 | g.227056085T>A | CA350841080 | COL4A4 | c.2576A>T (p.Asp859Val) c.2021A>T (p.Asp674Val) c.2468A>T (p.Asp823Val) c.902A>T (p.Asp301Val) n.2886A>T n.2902A>T | gnomAD v4 |
2 | g.227056085T>C | CA350841081 | COL4A4 | c.2576A>G (p.Asp859Gly) c.2021A>G (p.Asp674Gly) c.2468A>G (p.Asp823Gly) c.902A>G (p.Asp301Gly) n.2886A>G n.2902A>G | |
2 | g.227056085T>G | CA350841082 | COL4A4 | c.2576A>C (p.Asp859Ala) c.2021A>C (p.Asp674Ala) c.2468A>C (p.Asp823Ala) c.902A>C (p.Asp301Ala) n.2886A>C n.2902A>C | |
2 | g.227056086C>A | CA350841083 | COL4A4 | c.2575G>T (p.Asp859Tyr) c.2020G>T (p.Asp674Tyr) c.2467G>T (p.Asp823Tyr) c.901G>T (p.Asp301Tyr) n.2885G>T n.2901G>T | |
2 | g.227056086C>G | CA350841085 | COL4A4 | c.2575G>C (p.Asp859His) c.2020G>C (p.Asp674His) c.2467G>C (p.Asp823His) c.901G>C (p.Asp301His) n.2885G>C n.2901G>C | gnomAD v4 |
2 | g.227056086C>T | CA350841084 | COL4A4 | c.2575G>A (p.Asp859Asn) c.2020G>A (p.Asp674Asn) c.2467G>A (p.Asp823Asn) c.901G>A (p.Asp301Asn) n.2885G>A n.2901G>A | COSMIC |
2 | g.227056087T>A | CA431499458 | COL4A4 | c.2574A>T (p.Gly858=) c.2019A>T (p.Gly673=) c.2466A>T (p.Gly822=) c.900A>T (p.Gly300=) n.2884A>T n.2900A>T | |
2 | g.227056087T>C | CA431499459 | COL4A4 | c.2574A>G (p.Gly858=) c.2019A>G (p.Gly673=) c.2466A>G (p.Gly822=) c.900A>G (p.Gly300=) n.2884A>G n.2900A>G | |
2 | g.227056087T>G | CA431499460 | COL4A4 | c.2574A>C (p.Gly858=) c.2019A>C (p.Gly673=) c.2466A>C (p.Gly822=) c.900A>C (p.Gly300=) n.2884A>C n.2900A>C | ClinVar dbSNP gnomAD v4 |
2 | g.227056087T= | CA1332746380 | COL4A4 | c.2574A= (p.Gly858=) c.2019A= (p.Gly673=) c.2466A= (p.Gly822=) c.900A= (p.Gly300=) n.2884A= n.2900A= | |
2 | g.227056088C>A | CA350841086 | COL4A4 | c.2573G>T (p.Gly858Val) c.2018G>T (p.Gly673Val) c.2465G>T (p.Gly822Val) c.899G>T (p.Gly300Val) n.2883G>T n.2899G>T | |
2 | g.227056088C>G | CA350841087 | COL4A4 | c.2573G>C (p.Gly858Ala) c.2018G>C (p.Gly673Ala) c.2465G>C (p.Gly822Ala) c.899G>C (p.Gly300Ala) n.2883G>C n.2899G>C | |
2 | g.227056088C>T | CA350841088 | COL4A4 | c.2573G>A (p.Gly858Glu) c.2018G>A (p.Gly673Glu) c.2465G>A (p.Gly822Glu) c.899G>A (p.Gly300Glu) n.2883G>A n.2899G>A | dbSNP |
2 | g.227056089C>A | CA350841089 | COL4A4 | c.2572G>T (p.Gly858Ter) c.2017G>T (p.Gly673Ter) c.2464G>T (p.Gly822Ter) c.898G>T (p.Gly300Ter) n.2882G>T n.2898G>T | |
2 | g.227056089C= | CA1332746381 | COL4A4 | c.2572G= (p.Gly858=) c.2017G= (p.Gly673=) c.2464G= (p.Gly822=) c.898G= (p.Gly300=) n.2882G= n.2898G= | |
2 | g.227056089C>G | CA350841090 | COL4A4 | c.2572G>C (p.Gly858Arg) c.2017G>C (p.Gly673Arg) c.2464G>C (p.Gly822Arg) c.898G>C (p.Gly300Arg) n.2882G>C n.2898G>C | |
2 | g.227056089C>T | CA350841091 | COL4A4 | c.2572G>A (p.Gly858Arg) c.2017G>A (p.Gly673Arg) c.2464G>A (p.Gly822Arg) c.898G>A (p.Gly300Arg) n.2882G>A n.2898G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227056090C>A | CA431499461 | COL4A4 | c.2571G>T (p.Pro857=) c.2016G>T (p.Pro672=) c.2463G>T (p.Pro821=) c.897G>T (p.Pro299=) n.2881G>T n.2897G>T | gnomAD v4 |
2 | g.227056090C= | CA1332746382 | COL4A4 | c.2571G= (p.Pro857=) c.2016G= (p.Pro672=) c.2463G= (p.Pro821=) c.897G= (p.Pro299=) n.2881G= n.2897G= | |
2 | g.227056090C>G | CA431499462 | COL4A4 | c.2571G>C (p.Pro857=) c.2016G>C (p.Pro672=) c.2463G>C (p.Pro821=) c.897G>C (p.Pro299=) n.2881G>C n.2897G>C | |
2 | g.227056090C>T | CA2144770 | COL4A4 | c.2571G>A (p.Pro857=) c.2016G>A (p.Pro672=) c.2463G>A (p.Pro821=) c.897G>A (p.Pro299=) n.2881G>A n.2897G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056091G>A | CA2144771 | COL4A4 | c.2570C>T (p.Pro857Leu) c.2015C>T (p.Pro672Leu) c.2462C>T (p.Pro821Leu) c.896C>T (p.Pro299Leu) n.2880C>T n.2896C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056091G>C | CA350841092 | COL4A4 | c.2570C>G (p.Pro857Arg) c.2015C>G (p.Pro672Arg) c.2462C>G (p.Pro821Arg) c.896C>G (p.Pro299Arg) n.2880C>G n.2896C>G | |
2 | g.227056091G= | CA1332746383 | COL4A4 | c.2570C= (p.Pro857=) c.2015C= (p.Pro672=) c.2462C= (p.Pro821=) c.896C= (p.Pro299=) n.2880C= n.2896C= | |
2 | g.227056091G>T | CA350841093 | COL4A4 | c.2570C>A (p.Pro857Gln) c.2015C>A (p.Pro672Gln) c.2462C>A (p.Pro821Gln) c.896C>A (p.Pro299Gln) n.2880C>A n.2896C>A | |
2 | g.227056092G>A | CA350841094 | COL4A4 | c.2569C>T (p.Pro857Ser) c.2014C>T (p.Pro672Ser) c.2461C>T (p.Pro821Ser) c.895C>T (p.Pro299Ser) n.2879C>T n.2895C>T | |
2 | g.227056092G>C | CA350841095 | COL4A4 | c.2569C>G (p.Pro857Ala) c.2014C>G (p.Pro672Ala) c.2461C>G (p.Pro821Ala) c.895C>G (p.Pro299Ala) n.2879C>G n.2895C>G | dbSNP |
2 | g.227056092G= | CA1332746384 | COL4A4 | c.2569C= (p.Pro857=) c.2014C= (p.Pro672=) c.2461C= (p.Pro821=) c.895C= (p.Pro299=) n.2879C= n.2895C= | |
2 | g.227056092G>T | CA350841096 | COL4A4 | c.2569C>A (p.Pro857Thr) c.2014C>A (p.Pro672Thr) c.2461C>A (p.Pro821Thr) c.895C>A (p.Pro299Thr) n.2879C>A n.2895C>A | |
2 | g.227056093C>A | CA350841097 | COL4A4 | c.2568G>T (p.Gln856His) c.2013G>T (p.Gln671His) c.2460G>T (p.Gln820His) c.894G>T (p.Gln298His) n.2878G>T n.2894G>T | |
2 | g.227056093C= | CA1332746385 | COL4A4 | c.2568G= (p.Gln856=) c.2013G= (p.Gln671=) c.2460G= (p.Gln820=) c.894G= (p.Gln298=) n.2878G= n.2894G= | |
2 | g.227056093C>G | CA350841098 | COL4A4 | c.2568G>C (p.Gln856His) c.2013G>C (p.Gln671His) c.2460G>C (p.Gln820His) c.894G>C (p.Gln298His) n.2878G>C n.2894G>C | |
2 | g.227056093C>T | CA431499463 | COL4A4 | c.2568G>A (p.Gln856=) c.2013G>A (p.Gln671=) c.2460G>A (p.Gln820=) c.894G>A (p.Gln298=) n.2878G>A n.2894G>A | ClinVar dbSNP |
2 | g.227056094T>A | CA350841099 | COL4A4 | c.2567A>T (p.Gln856Leu) c.2012A>T (p.Gln671Leu) c.2459A>T (p.Gln820Leu) c.893A>T (p.Gln298Leu) n.2877A>T n.2893A>T | |
2 | g.227056094T>C | CA350841101 | COL4A4 | c.2567A>G (p.Gln856Arg) c.2012A>G (p.Gln671Arg) c.2459A>G (p.Gln820Arg) c.893A>G (p.Gln298Arg) n.2877A>G n.2893A>G | |
2 | g.227056094T>G | CA350841100 | COL4A4 | c.2567A>C (p.Gln856Pro) c.2012A>C (p.Gln671Pro) c.2459A>C (p.Gln820Pro) c.893A>C (p.Gln298Pro) n.2877A>C n.2893A>C | |
2 | g.227056095G>A | CA350841102 | COL4A4 | c.2566C>T (p.Gln856Ter) c.2011C>T (p.Gln671Ter) c.2458C>T (p.Gln820Ter) c.892C>T (p.Gln298Ter) n.2876C>T n.2892C>T | dbSNP |
2 | g.227056095G>C | CA350841103 | COL4A4 | c.2566C>G (p.Gln856Glu) c.2011C>G (p.Gln671Glu) c.2458C>G (p.Gln820Glu) c.892C>G (p.Gln298Glu) n.2876C>G n.2892C>G | gnomAD v4 |
2 | g.227056095G>T | CA350841104 | COL4A4 | c.2566C>A (p.Gln856Lys) c.2011C>A (p.Gln671Lys) c.2458C>A (p.Gln820Lys) c.892C>A (p.Gln298Lys) n.2876C>A n.2892C>A | |
2 | g.227056096T>A | CA431499464 | COL4A4 | c.2565A>T (p.Gly855=) c.2010A>T (p.Gly670=) c.2457A>T (p.Gly819=) c.891A>T (p.Gly297=) n.2875A>T n.2891A>T | |
2 | g.227056096T>C | CA431499465 | COL4A4 | c.2565A>G (p.Gly855=) c.2010A>G (p.Gly670=) c.2457A>G (p.Gly819=) c.891A>G (p.Gly297=) n.2875A>G n.2891A>G | |
2 | g.227056096T>G | CA431499466 | COL4A4 | c.2565A>C (p.Gly855=) c.2010A>C (p.Gly670=) c.2457A>C (p.Gly819=) c.891A>C (p.Gly297=) n.2875A>C n.2891A>C | |
2 | g.227056097C>A | CA350841105 | COL4A4 | c.2564G>T (p.Gly855Val) c.2009G>T (p.Gly670Val) c.2456G>T (p.Gly819Val) c.890G>T (p.Gly297Val) n.2874G>T n.2890G>T | |
2 | g.227056097C>G | CA350841106 | COL4A4 | c.2564G>C (p.Gly855Ala) c.2009G>C (p.Gly670Ala) c.2456G>C (p.Gly819Ala) c.890G>C (p.Gly297Ala) n.2874G>C n.2890G>C | |
2 | g.227056097C>T | CA350841107 | COL4A4 | c.2564G>A (p.Gly855Glu) c.2009G>A (p.Gly670Glu) c.2456G>A (p.Gly819Glu) c.890G>A (p.Gly297Glu) n.2874G>A n.2890G>A | |
2 | g.227056098C>A | CA350841108 | COL4A4 | c.2563G>T (p.Gly855Ter) c.2008G>T (p.Gly670Ter) c.2455G>T (p.Gly819Ter) c.889G>T (p.Gly297Ter) n.2873G>T n.2889G>T | |
2 | g.227056098C= | CA1332746386 | COL4A4 | c.2563G= (p.Gly855=) c.2008G= (p.Gly670=) c.2455G= (p.Gly819=) c.889G= (p.Gly297=) n.2873G= n.2889G= | |
2 | g.227056098C>G | CA350841109 | COL4A4 | c.2563G>C (p.Gly855Arg) c.2008G>C (p.Gly670Arg) c.2455G>C (p.Gly819Arg) c.889G>C (p.Gly297Arg) n.2873G>C n.2889G>C | |
2 | g.227056098C>T | CA350841110 | COL4A4 | c.2563G>A (p.Gly855Arg) c.2008G>A (p.Gly670Arg) c.2455G>A (p.Gly819Arg) c.889G>A (p.Gly297Arg) n.2873G>A n.2889G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.227056099T>A | CA350841111 | COL4A4 | c.2562A>T (p.Lys854Asn) c.2007A>T (p.Lys669Asn) c.2454A>T (p.Lys818Asn) c.888A>T (p.Lys296Asn) n.2872A>T n.2888A>T | |
2 | g.227056099T>C | CA431499467 | COL4A4 | c.2562A>G (p.Lys854=) c.2007A>G (p.Lys669=) c.2454A>G (p.Lys818=) c.888A>G (p.Lys296=) n.2872A>G n.2888A>G | |
2 | g.227056099T>G | CA350841112 | COL4A4 | c.2562A>C (p.Lys854Asn) c.2007A>C (p.Lys669Asn) c.2454A>C (p.Lys818Asn) c.888A>C (p.Lys296Asn) n.2872A>C n.2888A>C | |
2 | g.227056100T>A | CA350841115 | COL4A4 | c.2561A>T (p.Lys854Ile) c.2006A>T (p.Lys669Ile) c.2453A>T (p.Lys818Ile) c.887A>T (p.Lys296Ile) n.2871A>T n.2887A>T | |
2 | g.227056100T>C | CA350841114 | COL4A4 | c.2561A>G (p.Lys854Arg) c.2006A>G (p.Lys669Arg) c.2453A>G (p.Lys818Arg) c.887A>G (p.Lys296Arg) n.2871A>G n.2887A>G | |
2 | g.227056100T>G | CA350841113 | COL4A4 | c.2561A>C (p.Lys854Thr) c.2006A>C (p.Lys669Thr) c.2453A>C (p.Lys818Thr) c.887A>C (p.Lys296Thr) n.2871A>C n.2887A>C | |
2 | g.227056101T>A | CA350841116 | COL4A4 | c.2560A>T (p.Lys854Ter) c.2005A>T (p.Lys669Ter) c.2452A>T (p.Lys818Ter) c.886A>T (p.Lys296Ter) n.2870A>T n.2886A>T | |
2 | g.227056101T>C | CA350841117 | COL4A4 | c.2560A>G (p.Lys854Glu) c.2005A>G (p.Lys669Glu) c.2452A>G (p.Lys818Glu) c.886A>G (p.Lys296Glu) n.2870A>G n.2886A>G | |
2 | g.227056101T>G | CA350841118 | COL4A4 | c.2560A>C (p.Lys854Gln) c.2005A>C (p.Lys669Gln) c.2452A>C (p.Lys818Gln) c.886A>C (p.Lys296Gln) n.2870A>C n.2886A>C | |
2 | g.227056102C>A | CA431499468 | COL4A4 | c.2559G>T (p.Gly853=) c.2004G>T (p.Gly668=) c.2451G>T (p.Gly817=) c.885G>T (p.Gly295=) n.2869G>T n.2885G>T | dbSNP |
2 | g.227056102C= | CA1332746387 | COL4A4 | c.2559G= (p.Gly853=) c.2004G= (p.Gly668=) c.2451G= (p.Gly817=) c.885G= (p.Gly295=) n.2869G= n.2885G= | |
2 | g.227056102C>G | CA431499469 | COL4A4 | c.2559G>C (p.Gly853=) c.2004G>C (p.Gly668=) c.2451G>C (p.Gly817=) c.885G>C (p.Gly295=) n.2869G>C n.2885G>C | dbSNP |
2 | g.227056102C>T | CA431499470 | COL4A4 | c.2559G>A (p.Gly853=) c.2004G>A (p.Gly668=) c.2451G>A (p.Gly817=) c.885G>A (p.Gly295=) n.2869G>A n.2885G>A | |
2 | g.227056103C>A | CA350841119 | COL4A4 | c.2558G>T (p.Gly853Val) c.2003G>T (p.Gly668Val) c.2450G>T (p.Gly817Val) c.884G>T (p.Gly295Val) n.2868G>T n.2884G>T | ClinVar |
2 | g.227056103C>G | CA350841120 | COL4A4 | c.2558G>C (p.Gly853Ala) c.2003G>C (p.Gly668Ala) c.2450G>C (p.Gly817Ala) c.884G>C (p.Gly295Ala) n.2868G>C n.2884G>C | |
2 | g.227056103C>T | CA350841121 | COL4A4 | c.2558G>A (p.Gly853Glu) c.2003G>A (p.Gly668Glu) c.2450G>A (p.Gly817Glu) c.884G>A (p.Gly295Glu) n.2868G>A n.2884G>A | COSMIC |
2 | g.227056104C>A | CA350841122 | COL4A4 | c.2557G>T (p.Gly853Trp) c.2002G>T (p.Gly668Trp) c.2449G>T (p.Gly817Trp) c.883G>T (p.Gly295Trp) n.2867G>T n.2883G>T | |
2 | g.227056104C= | CA1332746388 | COL4A4 | c.2557G= (p.Gly853=) c.2002G= (p.Gly668=) c.2449G= (p.Gly817=) c.883G= (p.Gly295=) n.2867G= n.2883G= | |
2 | g.227056104C>G | CA350841123 | COL4A4 | c.2557G>C (p.Gly853Arg) c.2002G>C (p.Gly668Arg) c.2449G>C (p.Gly817Arg) c.883G>C (p.Gly295Arg) n.2867G>C n.2883G>C | |
2 | g.227056104C>T | CA2144772 | COL4A4 | c.2557G>A (p.Gly853Arg) c.2002G>A (p.Gly668Arg) c.2449G>A (p.Gly817Arg) c.883G>A (p.Gly295Arg) n.2867G>A n.2883G>A | dbSNP ExAC gnomAD v2 |
2 | g.227056105A>C | CA431499471 | COL4A4 | c.2556T>G (p.Gly852=) c.2001T>G (p.Gly667=) c.2448T>G (p.Gly816=) c.882T>G (p.Gly294=) n.2866T>G n.2882T>G | |
2 | g.227056105A>G | CA431499472 | COL4A4 | c.2556T>C (p.Gly852=) c.2001T>C (p.Gly667=) c.2448T>C (p.Gly816=) c.882T>C (p.Gly294=) n.2866T>C n.2882T>C | ClinVar gnomAD v4 |
2 | g.227056105A>T | CA431499473 | COL4A4 | c.2556T>A (p.Gly852=) c.2001T>A (p.Gly667=) c.2448T>A (p.Gly816=) c.882T>A (p.Gly294=) n.2866T>A n.2882T>A | |
2 | g.227056106C>A | CA350841124 | COL4A4 | c.2555G>T (p.Gly852Val) c.2000G>T (p.Gly667Val) c.2447G>T (p.Gly816Val) c.881G>T (p.Gly294Val) n.2865G>T n.2881G>T | |
2 | g.227056106C>G | CA350841125 | COL4A4 | c.2555G>C (p.Gly852Ala) c.2000G>C (p.Gly667Ala) c.2447G>C (p.Gly816Ala) c.881G>C (p.Gly294Ala) n.2865G>C n.2881G>C | |
2 | g.227056106C>T | CA350841126 | COL4A4 | c.2555G>A (p.Gly852Asp) c.2000G>A (p.Gly667Asp) c.2447G>A (p.Gly816Asp) c.881G>A (p.Gly294Asp) n.2865G>A n.2881G>A | ClinVar |
2 | g.227056107C>A | CA350841128 | COL4A4 | c.2554G>T (p.Gly852Cys) c.1999G>T (p.Gly667Cys) c.2446G>T (p.Gly816Cys) c.880G>T (p.Gly294Cys) n.2864G>T n.2880G>T | |
2 | g.227056107C= | CA1332746389 | COL4A4 | c.2554G= (p.Gly852=) c.1999G= (p.Gly667=) c.2446G= (p.Gly816=) c.880G= (p.Gly294=) n.2864G= n.2880G= | |
2 | g.227056107C>G | CA350841129 | COL4A4 | c.2554G>C (p.Gly852Arg) c.1999G>C (p.Gly667Arg) c.2446G>C (p.Gly816Arg) c.880G>C (p.Gly294Arg) n.2864G>C n.2880G>C | |
2 | g.227056107C>T | CA350841127 | COL4A4 | c.2554G>A (p.Gly852Ser) c.1999G>A (p.Gly667Ser) c.2446G>A (p.Gly816Ser) c.880G>A (p.Gly294Ser) n.2864G>A n.2880G>A | dbSNP |
2 | g.227056108T>A | CA431499474 | COL4A4 | c.2553A>T (p.Pro851=) c.1998A>T (p.Pro666=) c.2445A>T (p.Pro815=) c.879A>T (p.Pro293=) n.2863A>T n.2879A>T | |
2 | g.227056108T>C | CA431499475 | COL4A4 | c.2553A>G (p.Pro851=) c.1998A>G (p.Pro666=) c.2445A>G (p.Pro815=) c.879A>G (p.Pro293=) n.2863A>G n.2879A>G | |
2 | g.227056108T>G | CA431499476 | COL4A4 | c.2553A>C (p.Pro851=) c.1998A>C (p.Pro666=) c.2445A>C (p.Pro815=) c.879A>C (p.Pro293=) n.2863A>C n.2879A>C | |
2 | g.227056109G>A | CA350841130 | COL4A4 | c.2552C>T (p.Pro851Leu) c.1997C>T (p.Pro666Leu) c.2444C>T (p.Pro815Leu) c.878C>T (p.Pro293Leu) n.2862C>T n.2878C>T | |
2 | g.227056109G>C | CA350841131 | COL4A4 | c.2552C>G (p.Pro851Arg) c.1997C>G (p.Pro666Arg) c.2444C>G (p.Pro815Arg) c.878C>G (p.Pro293Arg) n.2862C>G n.2878C>G | |
2 | g.227056109G>T | CA350841132 | COL4A4 | c.2552C>A (p.Pro851Gln) c.1997C>A (p.Pro666Gln) c.2444C>A (p.Pro815Gln) c.878C>A (p.Pro293Gln) n.2862C>A n.2878C>A | gnomAD v4 |
2 | g.227056110G>A | CA350841133 | COL4A4 | c.2551C>T (p.Pro851Ser) c.1996C>T (p.Pro666Ser) c.2443C>T (p.Pro815Ser) c.877C>T (p.Pro293Ser) n.2861C>T n.2877C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.227056110G>C | CA350841134 | COL4A4 | c.2551C>G (p.Pro851Ala) c.1996C>G (p.Pro666Ala) c.2443C>G (p.Pro815Ala) c.877C>G (p.Pro293Ala) n.2861C>G n.2877C>G | |
2 | g.227056110G= | CA1332746390 | COL4A4 | c.2551C= (p.Pro851=) c.1996C= (p.Pro666=) c.2443C= (p.Pro815=) c.877C= (p.Pro293=) n.2861C= n.2877C= | |
2 | g.227056110G>T | CA350841135 | COL4A4 | c.2551C>A (p.Pro851Thr) c.1996C>A (p.Pro666Thr) c.2443C>A (p.Pro815Thr) c.877C>A (p.Pro293Thr) n.2861C>A n.2877C>A | |
2 | g.227056111A>C | CA431499477 | COL4A4 | c.2550T>G (p.Ala850=) c.1995T>G (p.Ala665=) c.2442T>G (p.Ala814=) c.876T>G (p.Ala292=) n.2860T>G n.2876T>G | |
2 | g.227056111A>G | CA431499479 | COL4A4 | c.2550T>C (p.Ala850=) c.1995T>C (p.Ala665=) c.2442T>C (p.Ala814=) c.876T>C (p.Ala292=) n.2860T>C n.2876T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227056111A>T | CA431499478 | COL4A4 | c.2550T>A (p.Ala850=) c.1995T>A (p.Ala665=) c.2442T>A (p.Ala814=) c.876T>A (p.Ala292=) n.2860T>A n.2876T>A | |
2 | g.227056112G>A | CA2144773 | COL4A4 | c.2549C>T (p.Ala850Val) c.1994C>T (p.Ala665Val) c.2441C>T (p.Ala814Val) c.875C>T (p.Ala292Val) n.2859C>T n.2875C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056112G>C | CA350841136 | COL4A4 | c.2549C>G (p.Ala850Gly) c.1994C>G (p.Ala665Gly) c.2441C>G (p.Ala814Gly) c.875C>G (p.Ala292Gly) n.2859C>G n.2875C>G | |
2 | g.227056112G= | CA1332746391 | COL4A4 | c.2549C= (p.Ala850=) c.1994C= (p.Ala665=) c.2441C= (p.Ala814=) c.875C= (p.Ala292=) n.2859C= n.2875C= | |
2 | g.227056112G>T | CA350841137 | COL4A4 | c.2549C>A (p.Ala850Asp) c.1994C>A (p.Ala665Asp) c.2441C>A (p.Ala814Asp) c.875C>A (p.Ala292Asp) n.2859C>A n.2875C>A | |
2 | g.227056113C>A | CA350841138 | COL4A4 | c.2548G>T (p.Ala850Ser) c.1993G>T (p.Ala665Ser) c.2440G>T (p.Ala814Ser) c.874G>T (p.Ala292Ser) n.2858G>T n.2874G>T | gnomAD v4 |
2 | g.227056113C>G | CA350841139 | COL4A4 | c.2548G>C (p.Ala850Pro) c.1993G>C (p.Ala665Pro) c.2440G>C (p.Ala814Pro) c.874G>C (p.Ala292Pro) n.2858G>C n.2874G>C | |
2 | g.227056113C>T | CA350841140 | COL4A4 | c.2548G>A (p.Ala850Thr) c.1993G>A (p.Ala665Thr) c.2440G>A (p.Ala814Thr) c.874G>A (p.Ala292Thr) n.2858G>A n.2874G>A | |
2 | g.227056114A>C | CA431499480 | COL4A4 | c.2547T>G (p.Gly849=) c.1992T>G (p.Gly664=) c.2439T>G (p.Gly813=) c.873T>G (p.Gly291=) n.2857T>G n.2873T>G | |
2 | g.227056114A>G | CA431499481 | COL4A4 | c.2547T>C (p.Gly849=) c.1992T>C (p.Gly664=) c.2439T>C (p.Gly813=) c.873T>C (p.Gly291=) n.2857T>C n.2873T>C | |
2 | g.227056114A>T | CA431499482 | COL4A4 | c.2547T>A (p.Gly849=) c.1992T>A (p.Gly664=) c.2439T>A (p.Gly813=) c.873T>A (p.Gly291=) n.2857T>A n.2873T>A | |
2 | g.227056115C>A | CA350841142 | COL4A4 | c.2546G>T (p.Gly849Val) c.1991G>T (p.Gly664Val) c.2438G>T (p.Gly813Val) c.872G>T (p.Gly291Val) n.2856G>T n.2872G>T | |
2 | g.227056115C>G | CA350841143 | COL4A4 | c.2546G>C (p.Gly849Ala) c.1991G>C (p.Gly664Ala) c.2438G>C (p.Gly813Ala) c.872G>C (p.Gly291Ala) n.2856G>C n.2872G>C | |
2 | g.227056115C>T | CA350841141 | COL4A4 | c.2546G>A (p.Gly849Asp) c.1991G>A (p.Gly664Asp) c.2438G>A (p.Gly813Asp) c.872G>A (p.Gly291Asp) n.2856G>A n.2872G>A | |
2 | g.227056116C>A | CA350841144 | COL4A4 | c.2546-1G>T (n.2546-1G>T) c.1991-1G>T (n.1991-1G>T) c.2438-1G>T (n.2438-1G>T) c.872-1G>T (n.872-1G>T) n.2856-1G>T n.2872-1G>T | |
2 | g.227056116C= | CA1332746392 | COL4A4 | c.2546-1G= (n.2546-1G=) c.1991-1G= (n.1991-1G=) c.2438-1G= (n.2438-1G=) c.872-1G= (n.872-1G=) n.2856-1G= n.2872-1G= | |
2 | g.227056116C>G | CA350841145 | COL4A4 | c.2546-1G>C (n.2546-1G>C) c.1991-1G>C (n.1991-1G>C) c.2438-1G>C (n.2438-1G>C) c.872-1G>C (n.872-1G>C) n.2856-1G>C n.2872-1G>C | ClinVar dbSNP gnomAD v4 |
2 | g.227056116C>T | CA350841146 | COL4A4 | c.2546-1G>A (n.2546-1G>A) c.1991-1G>A (n.1991-1G>A) c.2438-1G>A (n.2438-1G>A) c.872-1G>A (n.872-1G>A) n.2856-1G>A n.2872-1G>A | ClinVar |
2 | g.227056117T>A | CA350841147 | COL4A4 | c.2546-2A>T (n.2546-2A>T) c.1991-2A>T (n.1991-2A>T) c.2438-2A>T (n.2438-2A>T) c.872-2A>T (n.872-2A>T) n.2856-2A>T n.2872-2A>T | |
2 | g.227056117T>C | CA350841148 | COL4A4 | c.2546-2A>G (n.2546-2A>G) c.1991-2A>G (n.1991-2A>G) c.2438-2A>G (n.2438-2A>G) c.872-2A>G (n.872-2A>G) n.2856-2A>G n.2872-2A>G | |
2 | g.227056117T>G | CA350841149 | COL4A4 | c.2546-2A>C (n.2546-2A>C) c.1991-2A>C (n.1991-2A>C) c.2438-2A>C (n.2438-2A>C) c.872-2A>C (n.872-2A>C) n.2856-2A>C n.2872-2A>C | |
2 | g.227056120G>A | CA2144774 | COL4A4 | c.2546-5C>T (n.2546-5C>T) c.1991-5C>T (n.1991-5C>T) c.2438-5C>T (n.2438-5C>T) c.872-5C>T (n.872-5C>T) n.2856-5C>T n.2872-5C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227056120G>C | CA2577263538 | COL4A4 | c.2546-5C>G (n.2546-5C>G) c.1991-5C>G (n.1991-5C>G) c.2438-5C>G (n.2438-5C>G) c.872-5C>G (n.872-5C>G) n.2856-5C>G n.2872-5C>G | ClinVar |
2 | g.227056120G= | CA1332746393 | COL4A4 | c.2546-5C= (n.2546-5C=) c.1991-5C= (n.1991-5C=) c.2438-5C= (n.2438-5C=) c.872-5C= (n.872-5C=) n.2856-5C= n.2872-5C= | |
2 | g.227056121A= | CA1332746394 | COL4A4 | c.2546-6T= (n.2546-6T=) c.1991-6T= (n.1991-6T=) c.2438-6T= (n.2438-6T=) c.872-6T= (n.872-6T=) n.2856-6T= n.2872-6T= | |
2 | g.227056121A>G | CA2144775 | COL4A4 | c.2546-6T>C (n.2546-6T>C) c.1991-6T>C (n.1991-6T>C) c.2438-6T>C (n.2438-6T>C) c.872-6T>C (n.872-6T>C) n.2856-6T>C n.2872-6T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056122C>G | CA2754509037 | COL4A4 | c.2546-7G>C (n.2546-7G>C) c.1991-7G>C (n.1991-7G>C) c.2438-7G>C (n.2438-7G>C) c.872-7G>C (n.872-7G>C) n.2856-7G>C n.2872-7G>C | |
2 | g.227056134_227056142del | CA2663408047 | COL4A4 | c.2546-18_2546-10del (n.2546-18_2546-10del) c.1991-18_1991-10del (n.1991-18_1991-10del) c.2438-18_2438-10del (n.2438-18_2438-10del) c.872-18_872-10del (n.872-18_872-10del) n.2856-18_2856-10del n.2872-18_2872-10del | gnomAD v4 |
2 | g.227056126C= | CA1332746395 | COL4A4 | c.2546-11G= (n.2546-11G=) c.1991-11G= (n.1991-11G=) c.2438-11G= (n.2438-11G=) c.872-11G= (n.872-11G=) n.2856-11G= n.2872-11G= | |
2 | g.227056126C>T | CA539875518 | COL4A4 | c.2546-11G>A (n.2546-11G>A) c.1991-11G>A (n.1991-11G>A) c.2438-11G>A (n.2438-11G>A) c.872-11G>A (n.872-11G>A) n.2856-11G>A n.2872-11G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056127C= | CA1332746396 | COL4A4 | c.2546-12G= (n.2546-12G=) c.1991-12G= (n.1991-12G=) c.2438-12G= (n.2438-12G=) c.872-12G= (n.872-12G=) n.2856-12G= n.2872-12G= | |
2 | g.227056127C>T | CA1332746397 | COL4A4 | c.2546-12G>A (n.2546-12G>A) c.1991-12G>A (n.1991-12G>A) c.2438-12G>A (n.2438-12G>A) c.872-12G>A (n.872-12G>A) n.2856-12G>A n.2872-12G>A | dbSNP gnomAD v4 |
2 | g.227056130A>G | CA2577263539 | COL4A4 | c.2546-15T>C (n.2546-15T>C) c.1991-15T>C (n.1991-15T>C) c.2438-15T>C (n.2438-15T>C) c.872-15T>C (n.872-15T>C) n.2856-15T>C n.2872-15T>C | gnomAD v4 |
2 | g.227056131G>A | CA2144776 | COL4A4 | c.2546-16C>T (n.2546-16C>T) c.1991-16C>T (n.1991-16C>T) c.2438-16C>T (n.2438-16C>T) c.872-16C>T (n.872-16C>T) n.2856-16C>T n.2872-16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056131G= | CA1332746398 | COL4A4 | c.2546-16C= (n.2546-16C=) c.1991-16C= (n.1991-16C=) c.2438-16C= (n.2438-16C=) c.872-16C= (n.872-16C=) n.2856-16C= n.2872-16C= |