Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227056006_227056041dupCA2739278761COL4A4c.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
2g.227056006_227056041delCA915940414COL4A4c.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
2g.227056013_227056039dupCA16617486COL4A4c.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
2g.227056015_227056041dupCA2144749COL4A4c.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
2g.227056031C>ACA350840977COL4A4c.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
2g.227056031C=CA1332746351COL4A4c.2630G= (p.Arg877=)
c.2075G= (p.Arg692=)
c.2522G= (p.Arg841=)
c.956G= (p.Arg319=)
n.2940G=
n.2956G=
2g.227056031C>GCA350840978COL4A4c.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
2g.227056031C>TCA2144755COL4A4c.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
2g.227056032G>ACA2144756COL4A4c.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
2g.227056032G>CCA350840979COL4A4c.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
2g.227056032G=CA1332746352COL4A4c.2629C= (p.Arg877=)
c.2074C= (p.Arg692=)
c.2521C= (p.Arg841=)
c.955C= (p.Arg319=)
n.2939C=
n.2955C=
2g.227056032G>TCA431499418COL4A4c.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
2g.227056033T>ACA431499419COL4A4c.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
2g.227056033T>CCA2144757COL4A4c.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
2g.227056033T>GCA431499420COL4A4c.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
2g.227056033T=CA1332746353COL4A4c.2628A= (p.Gly876=)
c.2073A= (p.Gly691=)
c.2520A= (p.Gly840=)
c.954A= (p.Gly318=)
n.2938A=
n.2954A=
2g.227056034C>ACA350840980COL4A4c.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
2g.227056034C>GCA350840981COL4A4c.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
2g.227056034C>TCA350840982COL4A4c.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
2g.227056035C>ACA350840983COL4A4c.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
2g.227056035C>GCA350840984COL4A4c.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
2g.227056035C>TCA350840985COL4A4c.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
2g.227056036T>ACA2144758COL4A4c.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
2g.227056036T>CCA431499421COL4A4c.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
2g.227056036T>GCA431499422COL4A4c.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
2g.227056036T=CA1332746354COL4A4c.2625A= (p.Pro875=)
c.2070A= (p.Pro690=)
c.2517A= (p.Pro839=)
c.951A= (p.Pro317=)
n.2935A=
n.2951A=
2g.227056037G>ACA350840987COL4A4c.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
2g.227056037G>CCA350840988COL4A4c.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
2g.227056037G>TCA350840986COL4A4c.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
2g.227056039delCA2695197694COL4A4c.2624del (p.Pro875GlnfsTer?)
c.2069del (p.Pro690GlnfsTer?)
c.2516del (p.Pro839GlnfsTer?)
c.950del (p.Pro317GlnfsTer?)
n.2934del
n.2950del
 ClinVar
2g.227056038G>ACA350840989COL4A4c.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
2g.227056038G>CCA350840991COL4A4c.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
2g.227056038G>TCA350840990COL4A4c.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
2g.227056039G>ACA431499423COL4A4c.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
2g.227056039G>CCA431499424COL4A4c.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
2g.227056039G>TCA431499425COL4A4c.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
2g.227056040A>CCA350840992COL4A4c.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
2g.227056040A>GCA350840993COL4A4c.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
2g.227056040A>TCA350840994COL4A4c.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
2g.227056041G>ACA350840995COL4A4c.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
2g.227056041G>CCA350840996COL4A4c.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
2g.227056041G=CA1332746355COL4A4c.2620C= (p.Leu874=)
c.2065C= (p.Leu689=)
c.2512C= (p.Leu838=)
c.946C= (p.Leu316=)
n.2930C=
n.2946C=
2g.227056041G>TCA350840997COL4A4c.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
2g.227056042T>ACA431499427COL4A4c.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
2g.227056042T>CCA2144759COL4A4c.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
2g.227056042T>GCA431499426COL4A4c.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
2g.227056042T=CA1332746356COL4A4c.2619A= (p.Gly873=)
c.2064A= (p.Gly688=)
c.2511A= (p.Gly837=)
c.945A= (p.Gly315=)
n.2929A=
n.2945A=
2g.227056043C>ACA350840998COL4A4c.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
2g.227056043C>GCA350840999COL4A4c.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
2g.227056043C>TCA350841000COL4A4c.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
2g.227056044C>ACA350841001COL4A4c.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
2g.227056044C=CA1332746357COL4A4c.2617G= (p.Gly873=)
c.2062G= (p.Gly688=)
c.2509G= (p.Gly837=)
c.943G= (p.Gly315=)
n.2927G=
n.2943G=
2g.227056044C>GCA350841002COL4A4c.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
2g.227056044C>TCA66585148COL4A4c.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
2g.227056045G>ACA66585155COL4A4c.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
2g.227056045G>CCA431499428COL4A4c.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
2g.227056045G=CA1332746358COL4A4c.2616C= (p.Pro872=)
c.2061C= (p.Pro687=)
c.2508C= (p.Pro836=)
c.942C= (p.Pro314=)
n.2926C=
n.2942C=
2g.227056045G>TCA431499429COL4A4c.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
2g.227056048delCA2580065890COL4A4c.2616del (p.Gly873AspfsTer?)
c.2061del (p.Gly688AspfsTer?)
c.2508del (p.Gly837AspfsTer?)
c.942del (p.Gly315AspfsTer?)
n.2926del
n.2942del
 ClinVar gnomAD v4
2g.227056046G>ACA350841003COL4A4c.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
2g.227056046G>CCA350841005COL4A4c.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
2g.227056046G>TCA350841004COL4A4c.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
2g.227056047G>ACA350841006COL4A4c.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
2g.227056047G>CCA350841007COL4A4c.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
2g.227056047G=CA1332746359COL4A4c.2614C= (p.Pro872=)
c.2059C= (p.Pro687=)
c.2506C= (p.Pro836=)
c.940C= (p.Pro314=)
n.2924C=
n.2940C=
2g.227056047G>TCA350841008COL4A4c.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
2g.227056048G>ACA2144760COL4A4c.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
2g.227056048G>CCA431499431COL4A4c.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
2g.227056048G=CA1332746360COL4A4c.2613C= (p.Leu871=)
c.2058C= (p.Leu686=)
c.2505C= (p.Leu835=)
c.939C= (p.Leu313=)
n.2923C=
n.2939C=
2g.227056048G>TCA431499430COL4A4c.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
2g.227056049A>CCA350841009COL4A4c.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
2g.227056049A>GCA350841010COL4A4c.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
2g.227056049A>TCA350841011COL4A4c.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
2g.227056050G>ACA66585160COL4A4c.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
2g.227056050G>CCA350841012COL4A4c.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
2g.227056050G=CA1332746361COL4A4c.2611C= (p.Leu871=)
c.2056C= (p.Leu686=)
c.2503C= (p.Leu835=)
c.937C= (p.Leu313=)
n.2921C=
n.2937C=
2g.227056050G>TCA350841013COL4A4c.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
2g.227056051G>ACA431499432COL4A4c.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
2g.227056051G>CCA431499433COL4A4c.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
2g.227056051G=CA1332746362COL4A4c.2610C= (p.Gly870=)
c.2055C= (p.Gly685=)
c.2502C= (p.Gly834=)
c.936C= (p.Gly312=)
n.2920C=
n.2936C=
2g.227056051G>TCA2144761COL4A4c.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
2g.227056052C>ACA350841016COL4A4c.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
2g.227056052C>GCA350841014COL4A4c.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
2g.227056052C>TCA350841015COL4A4c.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
2g.227056053C>ACA350841017COL4A4c.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
2g.227056053C>GCA350841018COL4A4c.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
2g.227056053C>TCA350841019COL4A4c.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
2g.227056054T>ACA350841020COL4A4c.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
2g.227056054T>CCA431499434COL4A4c.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
2g.227056054T>GCA350841021COL4A4c.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
2g.227056054T=CA1332746363COL4A4c.2607A= (p.Lys869=)
c.2052A= (p.Lys684=)
c.2499A= (p.Lys833=)
c.933A= (p.Lys311=)
n.2917A=
n.2933A=
2g.227056055T>ACA350841022COL4A4c.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
2g.227056055T>CCA350841023COL4A4c.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
2g.227056055T>GCA350841024COL4A4c.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
2g.227056056T>ACA350841025COL4A4c.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
2g.227056056T>CCA350841026COL4A4c.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
2g.227056056T>GCA350841027COL4A4c.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
2g.227056057C>ACA350841030COL4A4c.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
2g.227056057C=CA1332746364COL4A4c.2604G= (p.Met868=)
c.2049G= (p.Met683=)
c.2496G= (p.Met832=)
c.930G= (p.Met310=)
n.2914G=
n.2930G=
2g.227056057C>GCA350841028COL4A4c.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
2g.227056057C>TCA350841029COL4A4c.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
2g.227056058A=CA1332746365COL4A4c.2603T= (p.Met868=)
c.2048T= (p.Met683=)
c.2495T= (p.Met832=)
c.929T= (p.Met310=)
n.2913T=
n.2929T=
2g.227056058A>CCA350841031COL4A4c.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
2g.227056058A>GCA350841032COL4A4c.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
2g.227056058A>TCA350841033COL4A4c.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
2g.227056059T>ACA350841034COL4A4c.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
2g.227056059T>CCA350841035COL4A4c.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
2g.227056059T>GCA350841036COL4A4c.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
2g.227056060T>ACA431499435COL4A4c.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
2g.227056060T>CCA431499436COL4A4c.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
2g.227056060T>GCA431499437COL4A4c.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
2g.227056061C>ACA350841037COL4A4c.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
2g.227056061C>GCA350841038COL4A4c.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
2g.227056061C>TCA350841039COL4A4c.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
2g.227056062C>ACA350841040COL4A4c.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
2g.227056062C=CA1332746366COL4A4c.2599G= (p.Gly867=)
c.2044G= (p.Gly682=)
c.2491G= (p.Gly831=)
c.925G= (p.Gly309=)
n.2909G=
n.2925G=
2g.227056062C>GCA350841041COL4A4c.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
2g.227056062C>TCA2144762COL4A4c.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
2g.227056063A>CCA431499438COL4A4c.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
2g.227056063A>GCA431499439COL4A4c.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
2g.227056063A>TCA431499440COL4A4c.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
2g.227056064G>ACA350841043COL4A4c.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
2g.227056064G>CCA350841044COL4A4c.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
2g.227056064G>TCA350841042COL4A4c.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
2g.227056065C>ACA66585165COL4A4c.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
2g.227056065C=CA1332746367COL4A4c.2596G= (p.Ala866=)
c.2041G= (p.Ala681=)
c.2488G= (p.Ala830=)
c.922G= (p.Ala308=)
n.2906G=
n.2922G=
2g.227056065C>GCA350841045COL4A4c.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
2g.227056065C>TCA350841046COL4A4c.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
2g.227056066T>ACA2144763COL4A4c.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
2g.227056066T>CCA431499441COL4A4c.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
2g.227056066T>GCA431499442COL4A4c.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
2g.227056066T=CA1332746368COL4A4c.2595A= (p.Pro865=)
c.2040A= (p.Pro680=)
c.2487A= (p.Pro829=)
c.921A= (p.Pro307=)
n.2905A=
n.2921A=
2g.227056066_227056075delinsTGGCCCGGGACA1332746369COL4A4c.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
2g.227056067G>ACA350841047COL4A4c.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
2g.227056067G>CCA350841048COL4A4c.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
2g.227056067G>TCA350841049COL4A4c.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
2g.227056068delCA2499215714COL4A4c.2594del (p.Pro865GlnfsTer4)
c.2039del (p.Pro680GlnfsTer4)
c.2486del (p.Pro829GlnfsTer4)
c.920del (p.Pro307GlnfsTer4)
n.2904del
n.2920del
 ClinVar dbSNP
2g.227056072_227056080delCA431499443COL4A4c.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
2g.227056068G>ACA350841050COL4A4c.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
2g.227056068G>CCA350841051COL4A4c.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
2g.227056068G=CA1332746370COL4A4c.2593C= (p.Pro865=)
c.2038C= (p.Pro680=)
c.2485C= (p.Pro829=)
c.919C= (p.Pro307=)
n.2903C=
n.2919C=
2g.227056068G>TCA2144764COL4A4c.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
2g.227056069C>ACA431499444COL4A4c.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
2g.227056069C>GCA431499445COL4A4c.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
2g.227056069C>TCA431499446COL4A4c.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
2g.227056070C>ACA350841052COL4A4c.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
2g.227056070C>GCA350841053COL4A4c.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
2g.227056070C>TCA350841054COL4A4c.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
2g.227056071C>ACA350841055COL4A4c.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
2g.227056071C=CA1332746371COL4A4c.2590G= (p.Gly864=)
c.2035G= (p.Gly679=)
c.2482G= (p.Gly828=)
c.916G= (p.Gly306=)
n.2900G=
n.2916G=
2g.227056071C>GCA350841056COL4A4c.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
2g.227056071C>TCA66585193COL4A4c.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
2g.227056072G>ACA2144765COL4A4c.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
2g.227056072G>CCA431499447COL4A4c.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
2g.227056072G=CA1332746372COL4A4c.2589C= (p.Pro863=)
c.2034C= (p.Pro678=)
c.2481C= (p.Pro827=)
c.915C= (p.Pro305=)
n.2899C=
n.2915C=
2g.227056072G>TCA431499448COL4A4c.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
2g.227056073G>ACA350841057COL4A4c.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
2g.227056073G>CCA350841058COL4A4c.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
2g.227056073G=CA1332746373COL4A4c.2588C= (p.Pro863=)
c.2033C= (p.Pro678=)
c.2480C= (p.Pro827=)
c.914C= (p.Pro305=)
n.2898C=
n.2914C=
2g.227056073G>TCA350841059COL4A4c.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
2g.227056074G>ACA2144766COL4A4c.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
2g.227056074G>CCA350841060COL4A4c.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
2g.227056074G=CA1332746374COL4A4c.2587C= (p.Pro863=)
c.2032C= (p.Pro678=)
c.2479C= (p.Pro827=)
c.913C= (p.Pro305=)
n.2897C=
n.2913C=
2g.227056074G>TCA350841061COL4A4c.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
2g.227056075A=CA1332746375COL4A4c.2586T= (p.Pro862=)
c.2031T= (p.Pro677=)
c.2478T= (p.Pro826=)
c.912T= (p.Pro304=)
n.2896T=
n.2912T=
2g.227056075A>CCA431499449COL4A4c.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
2g.227056075A>GCA2144767COL4A4c.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
2g.227056075A>TCA431499450COL4A4c.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
2g.227056076G>ACA350841062COL4A4c.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
2g.227056076G>CCA2144768COL4A4c.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
2g.227056076G=CA1332746376COL4A4c.2585C= (p.Pro862=)
c.2030C= (p.Pro677=)
c.2477C= (p.Pro826=)
c.911C= (p.Pro304=)
n.2895C=
n.2911C=
2g.227056076G>TCA350841063COL4A4c.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
2g.227056077G>ACA350841064COL4A4c.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
2g.227056077G>CCA350841065COL4A4c.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
2g.227056077G=CA1332746377COL4A4c.2584C= (p.Pro862=)
c.2029C= (p.Pro677=)
c.2476C= (p.Pro826=)
c.910C= (p.Pro304=)
n.2894C=
n.2910C=
2g.227056077G>TCA350841066COL4A4c.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
2g.227056078C>ACA431499453COL4A4c.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
2g.227056078C>GCA431499452COL4A4c.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
2g.227056078C>TCA431499451COL4A4c.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
2g.227056079C>ACA350841068COL4A4c.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
2g.227056079C>GCA350841069COL4A4c.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
2g.227056079C>TCA350841067COL4A4c.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
2g.227056080C>ACA350841070COL4A4c.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
2g.227056080C>GCA350841071COL4A4c.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
2g.227056080C>TCA350841072COL4A4c.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
2g.227056081C>ACA431499454COL4A4c.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
2g.227056081C>GCA431499455COL4A4c.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
2g.227056081C>TCA431499456COL4A4c.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
2g.227056082A=CA1332746378COL4A4c.2579T= (p.Val860=)
c.2024T= (p.Val675=)
c.2471T= (p.Val824=)
c.905T= (p.Val302=)
n.2889T=
n.2905T=
2g.227056082A>CCA2144769COL4A4c.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
2g.227056082A>GCA350841073COL4A4c.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
2g.227056082A>TCA350841074COL4A4c.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
2g.227056083C>ACA350841077COL4A4c.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
2g.227056083C>GCA350841075COL4A4c.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
2g.227056083C>TCA350841076COL4A4c.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
2g.227056084A=CA1332746379COL4A4c.2577T= (p.Asp859=)
c.2022T= (p.Asp674=)
c.2469T= (p.Asp823=)
c.903T= (p.Asp301=)
n.2887T=
n.2903T=
2g.227056084A>CCA350841078COL4A4c.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
2g.227056084A>GCA431499457COL4A4c.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
2g.227056084A>TCA350841079COL4A4c.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
2g.227056085T>ACA350841080COL4A4c.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
2g.227056085T>CCA350841081COL4A4c.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
2g.227056085T>GCA350841082COL4A4c.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
2g.227056086C>ACA350841083COL4A4c.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
2g.227056086C>GCA350841085COL4A4c.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
2g.227056086C>TCA350841084COL4A4c.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
2g.227056087T>ACA431499458COL4A4c.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
2g.227056087T>CCA431499459COL4A4c.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
2g.227056087T>GCA431499460COL4A4c.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
2g.227056087T=CA1332746380COL4A4c.2574A= (p.Gly858=)
c.2019A= (p.Gly673=)
c.2466A= (p.Gly822=)
c.900A= (p.Gly300=)
n.2884A=
n.2900A=
2g.227056088C>ACA350841086COL4A4c.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
2g.227056088C>GCA350841087COL4A4c.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
2g.227056088C>TCA350841088COL4A4c.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
2g.227056089C>ACA350841089COL4A4c.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
2g.227056089C=CA1332746381COL4A4c.2572G= (p.Gly858=)
c.2017G= (p.Gly673=)
c.2464G= (p.Gly822=)
c.898G= (p.Gly300=)
n.2882G=
n.2898G=
2g.227056089C>GCA350841090COL4A4c.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
2g.227056089C>TCA350841091COL4A4c.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
2g.227056090C>ACA431499461COL4A4c.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
2g.227056090C=CA1332746382COL4A4c.2571G= (p.Pro857=)
c.2016G= (p.Pro672=)
c.2463G= (p.Pro821=)
c.897G= (p.Pro299=)
n.2881G=
n.2897G=
2g.227056090C>GCA431499462COL4A4c.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
2g.227056090C>TCA2144770COL4A4c.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
2g.227056091G>ACA2144771COL4A4c.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
2g.227056091G>CCA350841092COL4A4c.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
2g.227056091G=CA1332746383COL4A4c.2570C= (p.Pro857=)
c.2015C= (p.Pro672=)
c.2462C= (p.Pro821=)
c.896C= (p.Pro299=)
n.2880C=
n.2896C=
2g.227056091G>TCA350841093COL4A4c.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
2g.227056092G>ACA350841094COL4A4c.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
2g.227056092G>CCA350841095COL4A4c.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
2g.227056092G=CA1332746384COL4A4c.2569C= (p.Pro857=)
c.2014C= (p.Pro672=)
c.2461C= (p.Pro821=)
c.895C= (p.Pro299=)
n.2879C=
n.2895C=
2g.227056092G>TCA350841096COL4A4c.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
2g.227056093C>ACA350841097COL4A4c.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
2g.227056093C=CA1332746385COL4A4c.2568G= (p.Gln856=)
c.2013G= (p.Gln671=)
c.2460G= (p.Gln820=)
c.894G= (p.Gln298=)
n.2878G=
n.2894G=
2g.227056093C>GCA350841098COL4A4c.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
2g.227056093C>TCA431499463COL4A4c.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
2g.227056094T>ACA350841099COL4A4c.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
2g.227056094T>CCA350841101COL4A4c.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
2g.227056094T>GCA350841100COL4A4c.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
2g.227056095G>ACA350841102COL4A4c.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
2g.227056095G>CCA350841103COL4A4c.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
2g.227056095G>TCA350841104COL4A4c.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
2g.227056096T>ACA431499464COL4A4c.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
2g.227056096T>CCA431499465COL4A4c.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
2g.227056096T>GCA431499466COL4A4c.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
2g.227056097C>ACA350841105COL4A4c.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
2g.227056097C>GCA350841106COL4A4c.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
2g.227056097C>TCA350841107COL4A4c.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
2g.227056098C>ACA350841108COL4A4c.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
2g.227056098C=CA1332746386COL4A4c.2563G= (p.Gly855=)
c.2008G= (p.Gly670=)
c.2455G= (p.Gly819=)
c.889G= (p.Gly297=)
n.2873G=
n.2889G=
2g.227056098C>GCA350841109COL4A4c.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
2g.227056098C>TCA350841110COL4A4c.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
2g.227056099T>ACA350841111COL4A4c.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
2g.227056099T>CCA431499467COL4A4c.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
2g.227056099T>GCA350841112COL4A4c.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
2g.227056100T>ACA350841115COL4A4c.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
2g.227056100T>CCA350841114COL4A4c.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
2g.227056100T>GCA350841113COL4A4c.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
2g.227056101T>ACA350841116COL4A4c.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
2g.227056101T>CCA350841117COL4A4c.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
2g.227056101T>GCA350841118COL4A4c.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
2g.227056102C>ACA431499468COL4A4c.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
2g.227056102C=CA1332746387COL4A4c.2559G= (p.Gly853=)
c.2004G= (p.Gly668=)
c.2451G= (p.Gly817=)
c.885G= (p.Gly295=)
n.2869G=
n.2885G=
2g.227056102C>GCA431499469COL4A4c.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
2g.227056102C>TCA431499470COL4A4c.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
2g.227056103C>ACA350841119COL4A4c.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
2g.227056103C>GCA350841120COL4A4c.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
2g.227056103C>TCA350841121COL4A4c.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
2g.227056104C>ACA350841122COL4A4c.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
2g.227056104C=CA1332746388COL4A4c.2557G= (p.Gly853=)
c.2002G= (p.Gly668=)
c.2449G= (p.Gly817=)
c.883G= (p.Gly295=)
n.2867G=
n.2883G=
2g.227056104C>GCA350841123COL4A4c.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
2g.227056104C>TCA2144772COL4A4c.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
2g.227056105A>CCA431499471COL4A4c.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
2g.227056105A>GCA431499472COL4A4c.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
2g.227056105A>TCA431499473COL4A4c.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
2g.227056106C>ACA350841124COL4A4c.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
2g.227056106C>GCA350841125COL4A4c.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
2g.227056106C>TCA350841126COL4A4c.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
2g.227056107C>ACA350841128COL4A4c.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
2g.227056107C=CA1332746389COL4A4c.2554G= (p.Gly852=)
c.1999G= (p.Gly667=)
c.2446G= (p.Gly816=)
c.880G= (p.Gly294=)
n.2864G=
n.2880G=
2g.227056107C>GCA350841129COL4A4c.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
2g.227056107C>TCA350841127COL4A4c.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
2g.227056108T>ACA431499474COL4A4c.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
2g.227056108T>CCA431499475COL4A4c.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
2g.227056108T>GCA431499476COL4A4c.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
2g.227056109G>ACA350841130COL4A4c.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
2g.227056109G>CCA350841131COL4A4c.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
2g.227056109G>TCA350841132COL4A4c.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
2g.227056110G>ACA350841133COL4A4c.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
2g.227056110G>CCA350841134COL4A4c.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
2g.227056110G=CA1332746390COL4A4c.2551C= (p.Pro851=)
c.1996C= (p.Pro666=)
c.2443C= (p.Pro815=)
c.877C= (p.Pro293=)
n.2861C=
n.2877C=
2g.227056110G>TCA350841135COL4A4c.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
2g.227056111A>CCA431499477COL4A4c.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
2g.227056111A>GCA431499479COL4A4c.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
2g.227056111A>TCA431499478COL4A4c.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
2g.227056112G>ACA2144773COL4A4c.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
2g.227056112G>CCA350841136COL4A4c.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
2g.227056112G=CA1332746391COL4A4c.2549C= (p.Ala850=)
c.1994C= (p.Ala665=)
c.2441C= (p.Ala814=)
c.875C= (p.Ala292=)
n.2859C=
n.2875C=
2g.227056112G>TCA350841137COL4A4c.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
2g.227056113C>ACA350841138COL4A4c.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
2g.227056113C>GCA350841139COL4A4c.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
2g.227056113C>TCA350841140COL4A4c.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
2g.227056114A>CCA431499480COL4A4c.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
2g.227056114A>GCA431499481COL4A4c.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
2g.227056114A>TCA431499482COL4A4c.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
2g.227056115C>ACA350841142COL4A4c.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
2g.227056115C>GCA350841143COL4A4c.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
2g.227056115C>TCA350841141COL4A4c.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
2g.227056116C>ACA350841144COL4A4c.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
2g.227056116C=CA1332746392COL4A4c.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=
2g.227056116C>GCA350841145COL4A4c.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
2g.227056116C>TCA350841146COL4A4c.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
2g.227056117T>ACA350841147COL4A4c.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
2g.227056117T>CCA350841148COL4A4c.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
2g.227056117T>GCA350841149COL4A4c.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
2g.227056120G>ACA2144774COL4A4c.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
2g.227056120G>CCA2577263538COL4A4c.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
2g.227056120G=CA1332746393COL4A4c.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=
2g.227056121A=CA1332746394COL4A4c.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=
2g.227056121A>GCA2144775COL4A4c.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
2g.227056122C>GCA2754509037COL4A4c.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
2g.227056134_227056142delCA2663408047COL4A4c.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
2g.227056126C=CA1332746395COL4A4c.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=
2g.227056126C>TCA539875518COL4A4c.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
2g.227056127C=CA1332746396COL4A4c.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=
2g.227056127C>TCA1332746397COL4A4c.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
2g.227056130A>GCA2577263539COL4A4c.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
2g.227056131G>ACA2144776COL4A4c.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
2g.227056131G=CA1332746398COL4A4c.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=

Number of alleles fetched