Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227054660_227054677delCA2580065867COL4A4c.2782_2799del (p.Cys928_Gly933del)
c.2227_2244del (p.Cys743_Gly748del)
c.2674_2691del (p.Cys892_Gly897del)
c.1108_1125del (p.Cys370_Gly375del)
n.3092_3109del
n.3108_3125del
 ClinVar
2g.227054658_227054659delinsCTCA1332745702COL4A4c.2795_2796delinsAG (p.Lys932=)
c.2240_2241delinsAG (p.Lys747=)
c.2687_2688delinsAG (p.Lys896=)
c.1121_1122delinsAG (p.Lys374=)
n.3105_3106delinsAG
n.3121_3122delinsAG
2g.227054659T>ACA350840139COL4A4c.2795A>T (p.Lys932Met)
c.2240A>T (p.Lys747Met)
c.2687A>T (p.Lys896Met)
c.1121A>T (p.Lys374Met)
n.3105A>T
n.3121A>T
2g.227054659T>CCA350840134COL4A4c.2795A>G (p.Lys932Arg)
c.2240A>G (p.Lys747Arg)
c.2687A>G (p.Lys896Arg)
c.1121A>G (p.Lys374Arg)
n.3105A>G
n.3121A>G
2g.227054659T>GCA350840136COL4A4c.2795A>C (p.Lys932Thr)
c.2240A>C (p.Lys747Thr)
c.2687A>C (p.Lys896Thr)
c.1121A>C (p.Lys374Thr)
n.3105A>C
n.3121A>C
2g.227054661delCA1332745703COL4A4c.2795del (p.Lys932ArgfsTer18)
c.2240del (p.Lys747ArgfsTer18)
c.2687del (p.Lys896ArgfsTer18)
c.1121del (p.Lys374ArgfsTer18)
n.3105del
n.3121del
 dbSNP
2g.227054660T>ACA350840140COL4A4c.2794A>T (p.Lys932Ter)
c.2239A>T (p.Lys747Ter)
c.2686A>T (p.Lys896Ter)
c.1120A>T (p.Lys374Ter)
n.3104A>T
n.3120A>T
 ClinVar
2g.227054660T>CCA350840142COL4A4c.2794A>G (p.Lys932Glu)
c.2239A>G (p.Lys747Glu)
c.2686A>G (p.Lys896Glu)
c.1120A>G (p.Lys374Glu)
n.3104A>G
n.3120A>G
2g.227054660T>GCA350840144COL4A4c.2794A>C (p.Lys932Gln)
c.2239A>C (p.Lys747Gln)
c.2686A>C (p.Lys896Gln)
c.1120A>C (p.Lys374Gln)
n.3104A>C
n.3120A>C
2g.227054660T=CA1332745704COL4A4c.2794A= (p.Lys932=)
c.2239A= (p.Lys747=)
c.2686A= (p.Lys896=)
c.1120A= (p.Lys374=)
n.3104A=
n.3120A=
2g.227054661T>ACA431499284COL4A4c.2793A>T (p.Ala931=)
c.2238A>T (p.Ala746=)
c.2685A>T (p.Ala895=)
c.1119A>T (p.Ala373=)
n.3103A>T
n.3119A>T
2g.227054661T>CCA431499285COL4A4c.2793A>G (p.Ala931=)
c.2238A>G (p.Ala746=)
c.2685A>G (p.Ala895=)
c.1119A>G (p.Ala373=)
n.3103A>G
n.3119A>G
2g.227054661T>GCA431499286COL4A4c.2793A>C (p.Ala931=)
c.2238A>C (p.Ala746=)
c.2685A>C (p.Ala895=)
c.1119A>C (p.Ala373=)
n.3103A>C
n.3119A>C
2g.227054664_227054681dupCA539874945COL4A4c.2776_2793dup (p.Ala931_Lys932insGluGlyCysProGlyAla)
c.2221_2238dup (p.Ala746_Lys747insGluGlyCysProGlyAla)
c.2668_2685dup (p.Ala895_Lys896insGluGlyCysProGlyAla)
c.1102_1119dup (p.Ala373_Lys374insGluGlyCysProGlyAla)
n.3086_3103dup
n.3102_3119dup
 dbSNP gnomAD v2 gnomAD v4
2g.227054662G>ACA66583872COL4A4c.2792C>T (p.Ala931Val)
c.2237C>T (p.Ala746Val)
c.2684C>T (p.Ala895Val)
c.1118C>T (p.Ala373Val)
n.3102C>T
n.3118C>T
 dbSNP
2g.227054662G>CCA350840147COL4A4c.2792C>G (p.Ala931Gly)
c.2237C>G (p.Ala746Gly)
c.2684C>G (p.Ala895Gly)
c.1118C>G (p.Ala373Gly)
n.3102C>G
n.3118C>G
2g.227054662G=CA1332745705COL4A4c.2792C= (p.Ala931=)
c.2237C= (p.Ala746=)
c.2684C= (p.Ala895=)
c.1118C= (p.Ala373=)
n.3102C=
n.3118C=
2g.227054662G>TCA350840148COL4A4c.2792C>A (p.Ala931Glu)
c.2237C>A (p.Ala746Glu)
c.2684C>A (p.Ala895Glu)
c.1118C>A (p.Ala373Glu)
n.3102C>A
n.3118C>A
2g.227054663C>ACA2144715COL4A4c.2791G>T (p.Ala931Ser)
c.2236G>T (p.Ala746Ser)
c.2683G>T (p.Ala895Ser)
c.1117G>T (p.Ala373Ser)
n.3101G>T
n.3117G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227054663C=CA1332745706COL4A4c.2791G= (p.Ala931=)
c.2236G= (p.Ala746=)
c.2683G= (p.Ala895=)
c.1117G= (p.Ala373=)
n.3101G=
n.3117G=
2g.227054663C>GCA350840153COL4A4c.2791G>C (p.Ala931Pro)
c.2236G>C (p.Ala746Pro)
c.2683G>C (p.Ala895Pro)
c.1117G>C (p.Ala373Pro)
n.3101G>C
n.3117G>C
2g.227054663C>TCA2144714COL4A4c.2791G>A (p.Ala931Thr)
c.2236G>A (p.Ala746Thr)
c.2683G>A (p.Ala895Thr)
c.1117G>A (p.Ala373Thr)
n.3101G>A
n.3117G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054664G>ACA2144716COL4A4c.2790C>T (p.Gly930=)
c.2235C>T (p.Gly745=)
c.2682C>T (p.Gly894=)
c.1116C>T (p.Gly372=)
n.3100C>T
n.3116C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054664G>CCA431499287COL4A4c.2790C>G (p.Gly930=)
c.2235C>G (p.Gly745=)
c.2682C>G (p.Gly894=)
c.1116C>G (p.Gly372=)
n.3100C>G
n.3116C>G
2g.227054664G=CA1332745707COL4A4c.2790C= (p.Gly930=)
c.2235C= (p.Gly745=)
c.2682C= (p.Gly894=)
c.1116C= (p.Gly372=)
n.3100C=
n.3116C=
2g.227054664G>TCA2144717COL4A4c.2790C>A (p.Gly930=)
c.2235C>A (p.Gly745=)
c.2682C>A (p.Gly894=)
c.1116C>A (p.Gly372=)
n.3100C>A
n.3116C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054665C>ACA350840160COL4A4c.2789G>T (p.Gly930Val)
c.2234G>T (p.Gly745Val)
c.2681G>T (p.Gly894Val)
c.1115G>T (p.Gly372Val)
n.3099G>T
n.3115G>T
2g.227054665C>GCA350840158COL4A4c.2789G>C (p.Gly930Ala)
c.2234G>C (p.Gly745Ala)
c.2681G>C (p.Gly894Ala)
c.1115G>C (p.Gly372Ala)
n.3099G>C
n.3115G>C
2g.227054665C>TCA350840157COL4A4c.2789G>A (p.Gly930Asp)
c.2234G>A (p.Gly745Asp)
c.2681G>A (p.Gly894Asp)
c.1115G>A (p.Gly372Asp)
n.3099G>A
n.3115G>A
 COSMIC
2g.227054666C>ACA350840161COL4A4c.2788G>T (p.Gly930Cys)
c.2233G>T (p.Gly745Cys)
c.2680G>T (p.Gly894Cys)
c.1114G>T (p.Gly372Cys)
n.3098G>T
n.3114G>T
2g.227054666C=CA1332745708COL4A4c.2788G= (p.Gly930=)
c.2233G= (p.Gly745=)
c.2680G= (p.Gly894=)
c.1114G= (p.Gly372=)
n.3098G=
n.3114G=
2g.227054666C>GCA350840164COL4A4c.2788G>C (p.Gly930Arg)
c.2233G>C (p.Gly745Arg)
c.2680G>C (p.Gly894Arg)
c.1114G>C (p.Gly372Arg)
n.3098G>C
n.3114G>C
2g.227054666C>TCA2144718COL4A4c.2788G>A (p.Gly930Ser)
c.2233G>A (p.Gly745Ser)
c.2680G>A (p.Gly894Ser)
c.1114G>A (p.Gly372Ser)
n.3098G>A
n.3114G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054667A>CCA431499288COL4A4c.2787T>G (p.Pro929=)
c.2232T>G (p.Pro744=)
c.2679T>G (p.Pro893=)
c.1113T>G (p.Pro371=)
n.3097T>G
n.3113T>G
2g.227054667A>GCA431499289COL4A4c.2787T>C (p.Pro929=)
c.2232T>C (p.Pro744=)
c.2679T>C (p.Pro893=)
c.1113T>C (p.Pro371=)
n.3097T>C
n.3113T>C
 ClinVar gnomAD v4
2g.227054667A>TCA431499290COL4A4c.2787T>A (p.Pro929=)
c.2232T>A (p.Pro744=)
c.2679T>A (p.Pro893=)
c.1113T>A (p.Pro371=)
n.3097T>A
n.3113T>A
2g.227054668G>ACA350840166COL4A4c.2786C>T (p.Pro929Leu)
c.2231C>T (p.Pro744Leu)
c.2678C>T (p.Pro893Leu)
c.1112C>T (p.Pro371Leu)
n.3096C>T
n.3112C>T
 gnomAD v4
2g.227054668G>CCA350840170COL4A4c.2786C>G (p.Pro929Arg)
c.2231C>G (p.Pro744Arg)
c.2678C>G (p.Pro893Arg)
c.1112C>G (p.Pro371Arg)
n.3096C>G
n.3112C>G
2g.227054668G>TCA350840167COL4A4c.2786C>A (p.Pro929His)
c.2231C>A (p.Pro744His)
c.2678C>A (p.Pro893His)
c.1112C>A (p.Pro371His)
n.3096C>A
n.3112C>A
2g.227054669G>ACA350840171COL4A4c.2785C>T (p.Pro929Ser)
c.2230C>T (p.Pro744Ser)
c.2677C>T (p.Pro893Ser)
c.1111C>T (p.Pro371Ser)
n.3095C>T
n.3111C>T
 COSMIC
2g.227054669G>CCA350840173COL4A4c.2785C>G (p.Pro929Ala)
c.2230C>G (p.Pro744Ala)
c.2677C>G (p.Pro893Ala)
c.1111C>G (p.Pro371Ala)
n.3095C>G
n.3111C>G
 gnomAD v4
2g.227054669G>TCA350840174COL4A4c.2785C>A (p.Pro929Thr)
c.2230C>A (p.Pro744Thr)
c.2677C>A (p.Pro893Thr)
c.1111C>A (p.Pro371Thr)
n.3095C>A
n.3111C>A
2g.227054670A>CCA350840176COL4A4c.2784T>G (p.Cys928Trp)
c.2229T>G (p.Cys743Trp)
c.2676T>G (p.Cys892Trp)
c.1110T>G (p.Cys370Trp)
n.3094T>G
n.3110T>G
2g.227054670A>GCA431499291COL4A4c.2784T>C (p.Cys928=)
c.2229T>C (p.Cys743=)
c.2676T>C (p.Cys892=)
c.1110T>C (p.Cys370=)
n.3094T>C
n.3110T>C
 ClinVar
2g.227054670A>TCA350840178COL4A4c.2784T>A (p.Cys928Ter)
c.2229T>A (p.Cys743Ter)
c.2676T>A (p.Cys892Ter)
c.1110T>A (p.Cys370Ter)
n.3094T>A
n.3110T>A
2g.227054671C>ACA350840179COL4A4c.2783G>T (p.Cys928Phe)
c.2228G>T (p.Cys743Phe)
c.2675G>T (p.Cys892Phe)
c.1109G>T (p.Cys370Phe)
n.3093G>T
n.3109G>T
 COSMIC
2g.227054671C>GCA350840181COL4A4c.2783G>C (p.Cys928Ser)
c.2228G>C (p.Cys743Ser)
c.2675G>C (p.Cys892Ser)
c.1109G>C (p.Cys370Ser)
n.3093G>C
n.3109G>C
2g.227054671C>TCA350840182COL4A4c.2783G>A (p.Cys928Tyr)
c.2228G>A (p.Cys743Tyr)
c.2675G>A (p.Cys892Tyr)
c.1109G>A (p.Cys370Tyr)
n.3093G>A
n.3109G>A
 gnomAD v4
2g.227054672A=CA1332745709COL4A4c.2782T= (p.Cys928=)
c.2227T= (p.Cys743=)
c.2674T= (p.Cys892=)
c.1108T= (p.Cys370=)
n.3092T=
n.3108T=
2g.227054672A>CCA350840184COL4A4c.2782T>G (p.Cys928Gly)
c.2227T>G (p.Cys743Gly)
c.2674T>G (p.Cys892Gly)
c.1108T>G (p.Cys370Gly)
n.3092T>G
n.3108T>G
2g.227054672A>GCA350840185COL4A4c.2782T>C (p.Cys928Arg)
c.2227T>C (p.Cys743Arg)
c.2674T>C (p.Cys892Arg)
c.1108T>C (p.Cys370Arg)
n.3092T>C
n.3108T>C
 dbSNP gnomAD v2 gnomAD v4
2g.227054672A>TCA350840187COL4A4c.2782T>A (p.Cys928Ser)
c.2227T>A (p.Cys743Ser)
c.2674T>A (p.Cys892Ser)
c.1108T>A (p.Cys370Ser)
n.3092T>A
n.3108T>A
2g.227054673T>ACA431499292COL4A4c.2781A>T (p.Gly927=)
c.2226A>T (p.Gly742=)
c.2673A>T (p.Gly891=)
c.1107A>T (p.Gly369=)
n.3091A>T
n.3107A>T
 ClinVar dbSNP gnomAD v4
2g.227054673T>CCA431499293COL4A4c.2781A>G (p.Gly927=)
c.2226A>G (p.Gly742=)
c.2673A>G (p.Gly891=)
c.1107A>G (p.Gly369=)
n.3091A>G
n.3107A>G
 ClinVar dbSNP gnomAD v4
2g.227054673T>GCA431499294COL4A4c.2781A>C (p.Gly927=)
c.2226A>C (p.Gly742=)
c.2673A>C (p.Gly891=)
c.1107A>C (p.Gly369=)
n.3091A>C
n.3107A>C
2g.227054673T=CA1332745710COL4A4c.2781A= (p.Gly927=)
c.2226A= (p.Gly742=)
c.2673A= (p.Gly891=)
c.1107A= (p.Gly369=)
n.3091A=
n.3107A=
2g.227054674C>ACA350840195COL4A4c.2780G>T (p.Gly927Val)
c.2225G>T (p.Gly742Val)
c.2672G>T (p.Gly891Val)
c.1106G>T (p.Gly369Val)
n.3090G>T
n.3106G>T
2g.227054674C>GCA350840191COL4A4c.2780G>C (p.Gly927Ala)
c.2225G>C (p.Gly742Ala)
c.2672G>C (p.Gly891Ala)
c.1106G>C (p.Gly369Ala)
n.3090G>C
n.3106G>C
2g.227054674C>TCA350840189COL4A4c.2780G>A (p.Gly927Glu)
c.2225G>A (p.Gly742Glu)
c.2672G>A (p.Gly891Glu)
c.1106G>A (p.Gly369Glu)
n.3090G>A
n.3106G>A
 gnomAD v4 COSMIC
2g.227054675C>ACA350840197COL4A4c.2779G>T (p.Gly927Ter)
c.2224G>T (p.Gly742Ter)
c.2671G>T (p.Gly891Ter)
c.1105G>T (p.Gly369Ter)
n.3089G>T
n.3105G>T
 dbSNP COSMIC
2g.227054675C=CA1332745711COL4A4c.2779G= (p.Gly927=)
c.2224G= (p.Gly742=)
c.2671G= (p.Gly891=)
c.1105G= (p.Gly369=)
n.3089G=
n.3105G=
2g.227054675C>GCA350840198COL4A4c.2779G>C (p.Gly927Arg)
c.2224G>C (p.Gly742Arg)
c.2671G>C (p.Gly891Arg)
c.1105G>C (p.Gly369Arg)
n.3089G>C
n.3105G>C
2g.227054675C>TCA350840200COL4A4c.2779G>A (p.Gly927Arg)
c.2224G>A (p.Gly742Arg)
c.2671G>A (p.Gly891Arg)
c.1105G>A (p.Gly369Arg)
n.3089G>A
n.3105G>A
 dbSNP
2g.227054676C>ACA350840202COL4A4c.2778G>T (p.Glu926Asp)
c.2223G>T (p.Glu741Asp)
c.2670G>T (p.Glu890Asp)
c.1104G>T (p.Glu368Asp)
n.3088G>T
n.3104G>T
2g.227054676C>GCA350840204COL4A4c.2778G>C (p.Glu926Asp)
c.2223G>C (p.Glu741Asp)
c.2670G>C (p.Glu890Asp)
c.1104G>C (p.Glu368Asp)
n.3088G>C
n.3104G>C
 gnomAD v4
2g.227054676C>TCA431499295COL4A4c.2778G>A (p.Glu926=)
c.2223G>A (p.Glu741=)
c.2670G>A (p.Glu890=)
c.1104G>A (p.Glu368=)
n.3088G>A
n.3104G>A
2g.227054677T>ACA350840205COL4A4c.2777A>T (p.Glu926Val)
c.2222A>T (p.Glu741Val)
c.2669A>T (p.Glu890Val)
c.1103A>T (p.Glu368Val)
n.3087A>T
n.3103A>T
2g.227054677T>CCA350840207COL4A4c.2777A>G (p.Glu926Gly)
c.2222A>G (p.Glu741Gly)
c.2669A>G (p.Glu890Gly)
c.1103A>G (p.Glu368Gly)
n.3087A>G
n.3103A>G
 ClinVar dbSNP gnomAD v4
2g.227054677T>GCA350840208COL4A4c.2777A>C (p.Glu926Ala)
c.2222A>C (p.Glu741Ala)
c.2669A>C (p.Glu890Ala)
c.1103A>C (p.Glu368Ala)
n.3087A>C
n.3103A>C
2g.227054677T=CA1332745712COL4A4c.2777A= (p.Glu926=)
c.2222A= (p.Glu741=)
c.2669A= (p.Glu890=)
c.1103A= (p.Glu368=)
n.3087A=
n.3103A=
2g.227054678C>ACA350840210COL4A4c.2776G>T (p.Glu926Ter)
c.2221G>T (p.Glu741Ter)
c.2668G>T (p.Glu890Ter)
c.1102G>T (p.Glu368Ter)
n.3086G>T
n.3102G>T
2g.227054678C=CA1332745713COL4A4c.2776G= (p.Glu926=)
c.2221G= (p.Glu741=)
c.2668G= (p.Glu890=)
c.1102G= (p.Glu368=)
n.3086G=
n.3102G=
2g.227054678C>GCA350840212COL4A4c.2776G>C (p.Glu926Gln)
c.2221G>C (p.Glu741Gln)
c.2668G>C (p.Glu890Gln)
c.1102G>C (p.Glu368Gln)
n.3086G>C
n.3102G>C
2g.227054678C>TCA2144719COL4A4c.2776G>A (p.Glu926Lys)
c.2221G>A (p.Glu741Lys)
c.2668G>A (p.Glu890Lys)
c.1102G>A (p.Glu368Lys)
n.3086G>A
n.3102G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054679T>ACA431499296COL4A4c.2775A>T (p.Ala925=)
c.2220A>T (p.Ala740=)
c.2667A>T (p.Ala889=)
c.1101A>T (p.Ala367=)
n.3085A>T
n.3101A>T
2g.227054679T>CCA431499297COL4A4c.2775A>G (p.Ala925=)
c.2220A>G (p.Ala740=)
c.2667A>G (p.Ala889=)
c.1101A>G (p.Ala367=)
n.3085A>G
n.3101A>G
 gnomAD v4
2g.227054679T>GCA431499298COL4A4c.2775A>C (p.Ala925=)
c.2220A>C (p.Ala740=)
c.2667A>C (p.Ala889=)
c.1101A>C (p.Ala367=)
n.3085A>C
n.3101A>C
2g.227054680G>ACA350840217COL4A4c.2774C>T (p.Ala925Val)
c.2219C>T (p.Ala740Val)
c.2666C>T (p.Ala889Val)
c.1100C>T (p.Ala367Val)
n.3084C>T
n.3100C>T
2g.227054680G>CCA350840215COL4A4c.2774C>G (p.Ala925Gly)
c.2219C>G (p.Ala740Gly)
c.2666C>G (p.Ala889Gly)
c.1100C>G (p.Ala367Gly)
n.3084C>G
n.3100C>G
2g.227054680G>TCA350840214COL4A4c.2774C>A (p.Ala925Glu)
c.2219C>A (p.Ala740Glu)
c.2666C>A (p.Ala889Glu)
c.1100C>A (p.Ala367Glu)
n.3084C>A
n.3100C>A
2g.227054681C>ACA350840219COL4A4c.2773G>T (p.Ala925Ser)
c.2218G>T (p.Ala740Ser)
c.2665G>T (p.Ala889Ser)
c.1099G>T (p.Ala367Ser)
n.3083G>T
n.3099G>T
2g.227054681C>GCA350840221COL4A4c.2773G>C (p.Ala925Pro)
c.2218G>C (p.Ala740Pro)
c.2665G>C (p.Ala889Pro)
c.1099G>C (p.Ala367Pro)
n.3083G>C
n.3099G>C
2g.227054681C>TCA350840223COL4A4c.2773G>A (p.Ala925Thr)
c.2218G>A (p.Ala740Thr)
c.2665G>A (p.Ala889Thr)
c.1099G>A (p.Ala367Thr)
n.3083G>A
n.3099G>A
2g.227054682A>CCA431499299COL4A4c.2772T>G (p.Gly924=)
c.2217T>G (p.Gly739=)
c.2664T>G (p.Gly888=)
c.1098T>G (p.Gly366=)
n.3082T>G
n.3098T>G
2g.227054682A>GCA431499300COL4A4c.2772T>C (p.Gly924=)
c.2217T>C (p.Gly739=)
c.2664T>C (p.Gly888=)
c.1098T>C (p.Gly366=)
n.3082T>C
n.3098T>C
 gnomAD v4
2g.227054682A>TCA431499301COL4A4c.2772T>A (p.Gly924=)
c.2217T>A (p.Gly739=)
c.2664T>A (p.Gly888=)
c.1098T>A (p.Gly366=)
n.3082T>A
n.3098T>A
2g.227054683C>ACA350840224COL4A4c.2771G>T (p.Gly924Val)
c.2216G>T (p.Gly739Val)
c.2663G>T (p.Gly888Val)
c.1097G>T (p.Gly366Val)
n.3081G>T
n.3097G>T
2g.227054683C=CA1332745714COL4A4c.2771G= (p.Gly924=)
c.2216G= (p.Gly739=)
c.2663G= (p.Gly888=)
c.1097G= (p.Gly366=)
n.3081G=
n.3097G=
2g.227054683C>GCA350840225COL4A4c.2771G>C (p.Gly924Ala)
c.2216G>C (p.Gly739Ala)
c.2663G>C (p.Gly888Ala)
c.1097G>C (p.Gly366Ala)
n.3081G>C
n.3097G>C
2g.227054683C>TCA350840226COL4A4c.2771G>A (p.Gly924Asp)
c.2216G>A (p.Gly739Asp)
c.2663G>A (p.Gly888Asp)
c.1097G>A (p.Gly366Asp)
n.3081G>A
n.3097G>A
 dbSNP gnomAD v4
2g.227054684dupCA2663407866COL4A4c.2771dup (p.Ala925CysfsTer?)
c.2216dup (p.Ala740CysfsTer?)
c.2663dup (p.Ala889CysfsTer?)
c.1097dup (p.Ala367CysfsTer?)
n.3081dup
n.3097dup
 gnomAD v4
2g.227054684C>ACA350840228COL4A4c.2770G>T (p.Gly924Cys)
c.2215G>T (p.Gly739Cys)
c.2662G>T (p.Gly888Cys)
c.1096G>T (p.Gly366Cys)
n.3080G>T
n.3096G>T
2g.227054684C>GCA350840230COL4A4c.2770G>C (p.Gly924Arg)
c.2215G>C (p.Gly739Arg)
c.2662G>C (p.Gly888Arg)
c.1096G>C (p.Gly366Arg)
n.3080G>C
n.3096G>C
2g.227054684C>TCA350840231COL4A4c.2770G>A (p.Gly924Ser)
c.2215G>A (p.Gly739Ser)
c.2662G>A (p.Gly888Ser)
c.1096G>A (p.Gly366Ser)
n.3080G>A
n.3096G>A
2g.227054685A>CCA431499302COL4A4c.2769T>G (p.Pro923=)
c.2214T>G (p.Pro738=)
c.2661T>G (p.Pro887=)
c.1095T>G (p.Pro365=)
n.3079T>G
n.3095T>G
2g.227054685A>GCA431499303COL4A4c.2769T>C (p.Pro923=)
c.2214T>C (p.Pro738=)
c.2661T>C (p.Pro887=)
c.1095T>C (p.Pro365=)
n.3079T>C
n.3095T>C
2g.227054685A>TCA431499304COL4A4c.2769T>A (p.Pro923=)
c.2214T>A (p.Pro738=)
c.2661T>A (p.Pro887=)
c.1095T>A (p.Pro365=)
n.3079T>A
n.3095T>A
2g.227054686G>ACA350840233COL4A4c.2768C>T (p.Pro923Leu)
c.2213C>T (p.Pro738Leu)
c.2660C>T (p.Pro887Leu)
c.1094C>T (p.Pro365Leu)
n.3078C>T
n.3094C>T
 dbSNP
2g.227054686G>CCA350840235COL4A4c.2768C>G (p.Pro923Arg)
c.2213C>G (p.Pro738Arg)
c.2660C>G (p.Pro887Arg)
c.1094C>G (p.Pro365Arg)
n.3078C>G
n.3094C>G
2g.227054686G=CA1332745715COL4A4c.2768C= (p.Pro923=)
c.2213C= (p.Pro738=)
c.2660C= (p.Pro887=)
c.1094C= (p.Pro365=)
n.3078C=
n.3094C=
2g.227054686G>TCA350840236COL4A4c.2768C>A (p.Pro923His)
c.2213C>A (p.Pro738His)
c.2660C>A (p.Pro887His)
c.1094C>A (p.Pro365His)
n.3078C>A
n.3094C>A
2g.227054687G>ACA350840241COL4A4c.2767C>T (p.Pro923Ser)
c.2212C>T (p.Pro738Ser)
c.2659C>T (p.Pro887Ser)
c.1093C>T (p.Pro365Ser)
n.3077C>T
n.3093C>T
 gnomAD v4
2g.227054687G>CCA350840239COL4A4c.2767C>G (p.Pro923Ala)
c.2212C>G (p.Pro738Ala)
c.2659C>G (p.Pro887Ala)
c.1093C>G (p.Pro365Ala)
n.3077C>G
n.3093C>G
2g.227054687G>TCA350840238COL4A4c.2767C>A (p.Pro923Thr)
c.2212C>A (p.Pro738Thr)
c.2659C>A (p.Pro887Thr)
c.1093C>A (p.Pro365Thr)
n.3077C>A
n.3093C>A
2g.227054688C>ACA350840242COL4A4c.2766G>T (p.Lys922Asn)
c.2211G>T (p.Lys737Asn)
c.2658G>T (p.Lys886Asn)
c.1092G>T (p.Lys364Asn)
n.3076G>T
n.3092G>T
2g.227054688C=CA1332745716COL4A4c.2766G= (p.Lys922=)
c.2211G= (p.Lys737=)
c.2658G= (p.Lys886=)
c.1092G= (p.Lys364=)
n.3076G=
n.3092G=
2g.227054688C>GCA350840243COL4A4c.2766G>C (p.Lys922Asn)
c.2211G>C (p.Lys737Asn)
c.2658G>C (p.Lys886Asn)
c.1092G>C (p.Lys364Asn)
n.3076G>C
n.3092G>C
 ClinVar dbSNP
2g.227054688C>TCA2144720COL4A4c.2766G>A (p.Lys922=)
c.2211G>A (p.Lys737=)
c.2658G>A (p.Lys886=)
c.1092G>A (p.Lys364=)
n.3076G>A
n.3092G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227054688_227054689delinsCTCA1332745717COL4A4c.2765_2766delinsAG (p.Lys922=)
c.2210_2211delinsAG (p.Lys737=)
c.2657_2658delinsAG (p.Lys886=)
c.1091_1092delinsAG (p.Lys364=)
n.3075_3076delinsAG
n.3091_3092delinsAG
2g.227054689T>ACA350840245COL4A4c.2765A>T (p.Lys922Met)
c.2210A>T (p.Lys737Met)
c.2657A>T (p.Lys886Met)
c.1091A>T (p.Lys364Met)
n.3075A>T
n.3091A>T
2g.227054689T>CCA350840247COL4A4c.2765A>G (p.Lys922Arg)
c.2210A>G (p.Lys737Arg)
c.2657A>G (p.Lys886Arg)
c.1091A>G (p.Lys364Arg)
n.3075A>G
n.3091A>G
 gnomAD v4
2g.227054689T>GCA350840248COL4A4c.2765A>C (p.Lys922Thr)
c.2210A>C (p.Lys737Thr)
c.2657A>C (p.Lys886Thr)
c.1091A>C (p.Lys364Thr)
n.3075A>C
n.3091A>C
2g.227054691delCA765667281COL4A4c.2765del (p.Lys922SerfsTer28)
c.2210del (p.Lys737SerfsTer28)
c.2657del (p.Lys886SerfsTer28)
c.1091del (p.Lys364SerfsTer28)
n.3075del
n.3091del
 dbSNP
2g.227054690T>ACA350840250COL4A4c.2764A>T (p.Lys922Ter)
c.2209A>T (p.Lys737Ter)
c.2656A>T (p.Lys886Ter)
c.1090A>T (p.Lys364Ter)
n.3074A>T
n.3090A>T
2g.227054690T>CCA350840252COL4A4c.2764A>G (p.Lys922Glu)
c.2209A>G (p.Lys737Glu)
c.2656A>G (p.Lys886Glu)
c.1090A>G (p.Lys364Glu)
n.3074A>G
n.3090A>G
2g.227054690T>GCA350840254COL4A4c.2764A>C (p.Lys922Gln)
c.2209A>C (p.Lys737Gln)
c.2656A>C (p.Lys886Gln)
c.1090A>C (p.Lys364Gln)
n.3074A>C
n.3090A>C
2g.227054691T>ACA431499307COL4A4c.2763A>T (p.Gly921=)
c.2208A>T (p.Gly736=)
c.2655A>T (p.Gly885=)
c.1089A>T (p.Gly363=)
n.3073A>T
n.3089A>T
2g.227054691T>CCA431499306COL4A4c.2763A>G (p.Gly921=)
c.2208A>G (p.Gly736=)
c.2655A>G (p.Gly885=)
c.1089A>G (p.Gly363=)
n.3073A>G
n.3089A>G
2g.227054691T>GCA431499305COL4A4c.2763A>C (p.Gly921=)
c.2208A>C (p.Gly736=)
c.2655A>C (p.Gly885=)
c.1089A>C (p.Gly363=)
n.3073A>C
n.3089A>C
2g.227054691_227054692delinsTCCA1332745718COL4A4c.2762_2763delinsGA (p.Gly921=)
c.2207_2208delinsGA (p.Gly736=)
c.2654_2655delinsGA (p.Gly885=)
c.1088_1089delinsGA (p.Gly363=)
n.3072_3073delinsGA
n.3088_3089delinsGA
2g.227054692C>ACA350840256COL4A4c.2762G>T (p.Gly921Val)
c.2207G>T (p.Gly736Val)
c.2654G>T (p.Gly885Val)
c.1088G>T (p.Gly363Val)
n.3072G>T
n.3088G>T
2g.227054692C>GCA350840258COL4A4c.2762G>C (p.Gly921Ala)
c.2207G>C (p.Gly736Ala)
c.2654G>C (p.Gly885Ala)
c.1088G>C (p.Gly363Ala)
n.3072G>C
n.3088G>C
2g.227054692C>TCA350840260COL4A4c.2762G>A (p.Gly921Glu)
c.2207G>A (p.Gly736Glu)
c.2654G>A (p.Gly885Glu)
c.1088G>A (p.Gly363Glu)
n.3072G>A
n.3088G>A
 COSMIC
2g.227054693delCA1139657717COL4A4c.2762del (p.Gly921GlufsTer29)
c.2207del (p.Gly736GlufsTer29)
c.2654del (p.Gly885GlufsTer29)
c.1088del (p.Gly363GlufsTer29)
n.3072del
n.3088del
 ClinVar dbSNP
2g.227054693C>ACA350840266COL4A4c.2761G>T (p.Gly921Ter)
c.2206G>T (p.Gly736Ter)
c.2653G>T (p.Gly885Ter)
c.1087G>T (p.Gly363Ter)
n.3071G>T
n.3087G>T
2g.227054693C>GCA350840264COL4A4c.2761G>C (p.Gly921Arg)
c.2206G>C (p.Gly736Arg)
c.2653G>C (p.Gly885Arg)
c.1087G>C (p.Gly363Arg)
n.3071G>C
n.3087G>C
 gnomAD v4
2g.227054693C>TCA350840263COL4A4c.2761G>A (p.Gly921Arg)
c.2206G>A (p.Gly736Arg)
c.2653G>A (p.Gly885Arg)
c.1087G>A (p.Gly363Arg)
n.3071G>A
n.3087G>A
 COSMIC
2g.227054694T>ACA350840268COL4A4c.2760A>T (p.Arg920Ser)
c.2205A>T (p.Arg735Ser)
c.2652A>T (p.Arg884Ser)
c.1086A>T (p.Arg362Ser)
n.3070A>T
n.3086A>T
2g.227054694T>CCA431499308COL4A4c.2760A>G (p.Arg920=)
c.2205A>G (p.Arg735=)
c.2652A>G (p.Arg884=)
c.1086A>G (p.Arg362=)
n.3070A>G
n.3086A>G
2g.227054694T>GCA350840270COL4A4c.2760A>C (p.Arg920Ser)
c.2205A>C (p.Arg735Ser)
c.2652A>C (p.Arg884Ser)
c.1086A>C (p.Arg362Ser)
n.3070A>C
n.3086A>C
 gnomAD v4
2g.227054695C>ACA350840271COL4A4c.2759G>T (p.Arg920Ile)
c.2204G>T (p.Arg735Ile)
c.2651G>T (p.Arg884Ile)
c.1085G>T (p.Arg362Ile)
n.3069G>T
n.3085G>T
 COSMIC
2g.227054695C>GCA350840272COL4A4c.2759G>C (p.Arg920Thr)
c.2204G>C (p.Arg735Thr)
c.2651G>C (p.Arg884Thr)
c.1085G>C (p.Arg362Thr)
n.3069G>C
n.3085G>C
2g.227054695C>TCA350840274COL4A4c.2759G>A (p.Arg920Lys)
c.2204G>A (p.Arg735Lys)
c.2651G>A (p.Arg884Lys)
c.1085G>A (p.Arg362Lys)
n.3069G>A
n.3085G>A
2g.227054696T>ACA350840276COL4A4c.2758A>T (p.Arg920Ter)
c.2203A>T (p.Arg735Ter)
c.2650A>T (p.Arg884Ter)
c.1084A>T (p.Arg362Ter)
n.3068A>T
n.3084A>T
2g.227054696T>CCA350840278COL4A4c.2758A>G (p.Arg920Gly)
c.2203A>G (p.Arg735Gly)
c.2650A>G (p.Arg884Gly)
c.1084A>G (p.Arg362Gly)
n.3068A>G
n.3084A>G
2g.227054696T>GCA431499309COL4A4c.2758A>C (p.Arg920=)
c.2203A>C (p.Arg735=)
c.2650A>C (p.Arg884=)
c.1084A>C (p.Arg362=)
n.3068A>C
n.3084A>C
2g.227054697T>ACA350840279COL4A4c.2757A>T (p.Glu919Asp)
c.2202A>T (p.Glu734Asp)
c.2649A>T (p.Glu883Asp)
c.1083A>T (p.Glu361Asp)
n.3067A>T
n.3083A>T
2g.227054697T>CCA431499310COL4A4c.2757A>G (p.Glu919=)
c.2202A>G (p.Glu734=)
c.2649A>G (p.Glu883=)
c.1083A>G (p.Glu361=)
n.3067A>G
n.3083A>G
2g.227054697T>GCA350840281COL4A4c.2757A>C (p.Glu919Asp)
c.2202A>C (p.Glu734Asp)
c.2649A>C (p.Glu883Asp)
c.1083A>C (p.Glu361Asp)
n.3067A>C
n.3083A>C
2g.227054698T>ACA350840283COL4A4c.2756A>T (p.Glu919Val)
c.2201A>T (p.Glu734Val)
c.2648A>T (p.Glu883Val)
c.1082A>T (p.Glu361Val)
n.3066A>T
n.3082A>T
2g.227054698T>CCA2144721COL4A4c.2756A>G (p.Glu919Gly)
c.2201A>G (p.Glu734Gly)
c.2648A>G (p.Glu883Gly)
c.1082A>G (p.Glu361Gly)
n.3066A>G
n.3082A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054698T>GCA350840285COL4A4c.2756A>C (p.Glu919Ala)
c.2201A>C (p.Glu734Ala)
c.2648A>C (p.Glu883Ala)
c.1082A>C (p.Glu361Ala)
n.3066A>C
n.3082A>C
2g.227054698T=CA1332745719COL4A4c.2756A= (p.Glu919=)
c.2201A= (p.Glu734=)
c.2648A= (p.Glu883=)
c.1082A= (p.Glu361=)
n.3066A=
n.3082A=
2g.227054699C>ACA350840287COL4A4c.2755G>T (p.Glu919Ter)
c.2200G>T (p.Glu734Ter)
c.2647G>T (p.Glu883Ter)
c.1081G>T (p.Glu361Ter)
n.3065G>T
n.3081G>T
2g.227054699C>GCA350840289COL4A4c.2755G>C (p.Glu919Gln)
c.2200G>C (p.Glu734Gln)
c.2647G>C (p.Glu883Gln)
c.1081G>C (p.Glu361Gln)
n.3065G>C
n.3081G>C
2g.227054699C>TCA350840291COL4A4c.2755G>A (p.Glu919Lys)
c.2200G>A (p.Glu734Lys)
c.2647G>A (p.Glu883Lys)
c.1081G>A (p.Glu361Lys)
n.3065G>A
n.3081G>A
 COSMIC
2g.227054700T>ACA431499311COL4A4c.2754A>T (p.Gly918=)
c.2199A>T (p.Gly733=)
c.2646A>T (p.Gly882=)
c.1080A>T (p.Gly360=)
n.3064A>T
n.3080A>T
2g.227054700T>CCA431499312COL4A4c.2754A>G (p.Gly918=)
c.2199A>G (p.Gly733=)
c.2646A>G (p.Gly882=)
c.1080A>G (p.Gly360=)
n.3064A>G
n.3080A>G
2g.227054700T>GCA431499313COL4A4c.2754A>C (p.Gly918=)
c.2199A>C (p.Gly733=)
c.2646A>C (p.Gly882=)
c.1080A>C (p.Gly360=)
n.3064A>C
n.3080A>C
2g.227054701C>ACA350840292COL4A4c.2753G>T (p.Gly918Val)
c.2198G>T (p.Gly733Val)
c.2645G>T (p.Gly882Val)
c.1079G>T (p.Gly360Val)
n.3063G>T
n.3079G>T
2g.227054701C>GCA350840295COL4A4c.2753G>C (p.Gly918Ala)
c.2198G>C (p.Gly733Ala)
c.2645G>C (p.Gly882Ala)
c.1079G>C (p.Gly360Ala)
n.3063G>C
n.3079G>C
 gnomAD v4
2g.227054701C>TCA350840294COL4A4c.2753G>A (p.Gly918Glu)
c.2198G>A (p.Gly733Glu)
c.2645G>A (p.Gly882Glu)
c.1079G>A (p.Gly360Glu)
n.3063G>A
n.3079G>A
2g.227054702delCA2573135643COL4A4c.2753del (p.Gly918GlufsTer?)
c.2198del (p.Gly733GlufsTer?)
c.2645del (p.Gly882GlufsTer?)
c.1079del (p.Gly360GlufsTer?)
n.3063del
n.3079del
 ClinVar dbSNP
2g.227054702C>ACA350840296COL4A4c.2752G>T (p.Gly918Ter)
c.2197G>T (p.Gly733Ter)
c.2644G>T (p.Gly882Ter)
c.1078G>T (p.Gly360Ter)
n.3062G>T
n.3078G>T
2g.227054702C=CA1332745720COL4A4c.2752G= (p.Gly918=)
c.2197G= (p.Gly733=)
c.2644G= (p.Gly882=)
c.1078G= (p.Gly360=)
n.3062G=
n.3078G=
2g.227054702C>GCA350840298COL4A4c.2752G>C (p.Gly918Arg)
c.2197G>C (p.Gly733Arg)
c.2644G>C (p.Gly882Arg)
c.1078G>C (p.Gly360Arg)
n.3062G>C
n.3078G>C
2g.227054702C>TCA2144722COL4A4c.2752G>A (p.Gly918Arg)
c.2197G>A (p.Gly733Arg)
c.2644G>A (p.Gly882Arg)
c.1078G>A (p.Gly360Arg)
n.3062G>A
n.3078G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227054703G>ACA2144723COL4A4c.2751C>T (p.Pro917=)
c.2196C>T (p.Pro732=)
c.2643C>T (p.Pro881=)
c.1077C>T (p.Pro359=)
n.3061C>T
n.3077C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054703G>CCA431499314COL4A4c.2751C>G (p.Pro917=)
c.2196C>G (p.Pro732=)
c.2643C>G (p.Pro881=)
c.1077C>G (p.Pro359=)
n.3061C>G
n.3077C>G
2g.227054703G=CA1332745721COL4A4c.2751C= (p.Pro917=)
c.2196C= (p.Pro732=)
c.2643C= (p.Pro881=)
c.1077C= (p.Pro359=)
n.3061C=
n.3077C=
2g.227054703G>TCA2144724COL4A4c.2751C>A (p.Pro917=)
c.2196C>A (p.Pro732=)
c.2643C>A (p.Pro881=)
c.1077C>A (p.Pro359=)
n.3061C>A
n.3077C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227054704G>ACA350840301COL4A4c.2750C>T (p.Pro917Leu)
c.2195C>T (p.Pro732Leu)
c.2642C>T (p.Pro881Leu)
c.1076C>T (p.Pro359Leu)
n.3060C>T
n.3076C>T
 gnomAD v4
2g.227054704G>CCA350840303COL4A4c.2750C>G (p.Pro917Arg)
c.2195C>G (p.Pro732Arg)
c.2642C>G (p.Pro881Arg)
c.1076C>G (p.Pro359Arg)
n.3060C>G
n.3076C>G
 gnomAD v4
2g.227054704G>TCA350840305COL4A4c.2750C>A (p.Pro917His)
c.2195C>A (p.Pro732His)
c.2642C>A (p.Pro881His)
c.1076C>A (p.Pro359His)
n.3060C>A
n.3076C>A
2g.227054705G>ACA350840307COL4A4c.2749C>T (p.Pro917Ser)
c.2194C>T (p.Pro732Ser)
c.2641C>T (p.Pro881Ser)
c.1075C>T (p.Pro359Ser)
n.3059C>T
n.3075C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.227054705G>CCA350840309COL4A4c.2749C>G (p.Pro917Ala)
c.2194C>G (p.Pro732Ala)
c.2641C>G (p.Pro881Ala)
c.1075C>G (p.Pro359Ala)
n.3059C>G
n.3075C>G
2g.227054705G=CA1332745722COL4A4c.2749C= (p.Pro917=)
c.2194C= (p.Pro732=)
c.2641C= (p.Pro881=)
c.1075C= (p.Pro359=)
n.3059C=
n.3075C=
2g.227054705G>TCA350840310COL4A4c.2749C>A (p.Pro917Thr)
c.2194C>A (p.Pro732Thr)
c.2641C>A (p.Pro881Thr)
c.1075C>A (p.Pro359Thr)
n.3059C>A
n.3075C>A
2g.227054706A>CCA350840313COL4A4c.2748T>G (p.Phe916Leu)
c.2193T>G (p.Phe731Leu)
c.2640T>G (p.Phe880Leu)
c.1074T>G (p.Phe358Leu)
n.3058T>G
n.3074T>G
2g.227054706A>GCA431499315COL4A4c.2748T>C (p.Phe916=)
c.2193T>C (p.Phe731=)
c.2640T>C (p.Phe880=)
c.1074T>C (p.Phe358=)
n.3058T>C
n.3074T>C
 gnomAD v4
2g.227054706A>TCA350840312COL4A4c.2748T>A (p.Phe916Leu)
c.2193T>A (p.Phe731Leu)
c.2640T>A (p.Phe880Leu)
c.1074T>A (p.Phe358Leu)
n.3058T>A
n.3074T>A
2g.227054707A>CCA350840315COL4A4c.2747T>G (p.Phe916Cys)
c.2192T>G (p.Phe731Cys)
c.2639T>G (p.Phe880Cys)
c.1073T>G (p.Phe358Cys)
n.3057T>G
n.3073T>G
2g.227054707A>GCA350840317COL4A4c.2747T>C (p.Phe916Ser)
c.2192T>C (p.Phe731Ser)
c.2639T>C (p.Phe880Ser)
c.1073T>C (p.Phe358Ser)
n.3057T>C
n.3073T>C
2g.227054707A>TCA350840318COL4A4c.2747T>A (p.Phe916Tyr)
c.2192T>A (p.Phe731Tyr)
c.2639T>A (p.Phe880Tyr)
c.1073T>A (p.Phe358Tyr)
n.3057T>A
n.3073T>A
2g.227054708A>CCA350840320COL4A4c.2746T>G (p.Phe916Val)
c.2191T>G (p.Phe731Val)
c.2638T>G (p.Phe880Val)
c.1072T>G (p.Phe358Val)
n.3056T>G
n.3072T>G
2g.227054708A>GCA350840321COL4A4c.2746T>C (p.Phe916Leu)
c.2191T>C (p.Phe731Leu)
c.2638T>C (p.Phe880Leu)
c.1072T>C (p.Phe358Leu)
n.3056T>C
n.3072T>C
2g.227054708A>TCA350840323COL4A4c.2746T>A (p.Phe916Ile)
c.2191T>A (p.Phe731Ile)
c.2638T>A (p.Phe880Ile)
c.1072T>A (p.Phe358Ile)
n.3056T>A
n.3072T>A
2g.227054709A=CA1332745723COL4A4c.2745T= (p.Gly915=)
c.2190T= (p.Gly730=)
c.2637T= (p.Gly879=)
c.1071T= (p.Gly357=)
n.3055T=
n.3071T=
2g.227054709A>CCA431499316COL4A4c.2745T>G (p.Gly915=)
c.2190T>G (p.Gly730=)
c.2637T>G (p.Gly879=)
c.1071T>G (p.Gly357=)
n.3055T>G
n.3071T>G
2g.227054709A>GCA431499317COL4A4c.2745T>C (p.Gly915=)
c.2190T>C (p.Gly730=)
c.2637T>C (p.Gly879=)
c.1071T>C (p.Gly357=)
n.3055T>C
n.3071T>C
 gnomAD v4
2g.227054709A>TCA66583907COL4A4c.2745T>A (p.Gly915=)
c.2190T>A (p.Gly730=)
c.2637T>A (p.Gly879=)
c.1071T>A (p.Gly357=)
n.3055T>A
n.3071T>A
 dbSNP
2g.227054710C>ACA350840326COL4A4c.2744G>T (p.Gly915Val)
c.2189G>T (p.Gly730Val)
c.2636G>T (p.Gly879Val)
c.1070G>T (p.Gly357Val)
n.3054G>T
n.3070G>T
2g.227054710C=CA1332745724COL4A4c.2744G= (p.Gly915=)
c.2189G= (p.Gly730=)
c.2636G= (p.Gly879=)
c.1070G= (p.Gly357=)
n.3054G=
n.3070G=
2g.227054710C>GCA350840327COL4A4c.2744G>C (p.Gly915Ala)
c.2189G>C (p.Gly730Ala)
c.2636G>C (p.Gly879Ala)
c.1070G>C (p.Gly357Ala)
n.3054G>C
n.3070G>C
2g.227054710C>TCA66583911COL4A4c.2744G>A (p.Gly915Asp)
c.2189G>A (p.Gly730Asp)
c.2636G>A (p.Gly879Asp)
c.1070G>A (p.Gly357Asp)
n.3054G>A
n.3070G>A
 dbSNP
2g.227054711delCA2586971580COL4A4c.2744del (p.Gly915ValfsTer?)
c.2189del (p.Gly730ValfsTer?)
c.2636del (p.Gly879ValfsTer?)
c.1070del (p.Gly357ValfsTer?)
n.3054del
n.3070del
 gnomAD v4
2g.227054711C>ACA350840329COL4A4c.2743G>T (p.Gly915Cys)
c.2188G>T (p.Gly730Cys)
c.2635G>T (p.Gly879Cys)
c.1069G>T (p.Gly357Cys)
n.3053G>T
n.3069G>T
 dbSNP
2g.227054711C>GCA350840331COL4A4c.2743G>C (p.Gly915Arg)
c.2188G>C (p.Gly730Arg)
c.2635G>C (p.Gly879Arg)
c.1069G>C (p.Gly357Arg)
n.3053G>C
n.3069G>C
 gnomAD v4
2g.227054711C>TCA350840332COL4A4c.2743G>A (p.Gly915Ser)
c.2188G>A (p.Gly730Ser)
c.2635G>A (p.Gly879Ser)
c.1069G>A (p.Gly357Ser)
n.3053G>A
n.3069G>A
 COSMIC
2g.227054712T>ACA431499318COL4A4c.2742A>T (p.Pro914=)
c.2187A>T (p.Pro729=)
c.2634A>T (p.Pro878=)
c.1068A>T (p.Pro356=)
n.3052A>T
n.3068A>T
2g.227054712T>CCA431499319COL4A4c.2742A>G (p.Pro914=)
c.2187A>G (p.Pro729=)
c.2634A>G (p.Pro878=)
c.1068A>G (p.Pro356=)
n.3052A>G
n.3068A>G
 ClinVar dbSNP
2g.227054712T>GCA431499320COL4A4c.2742A>C (p.Pro914=)
c.2187A>C (p.Pro729=)
c.2634A>C (p.Pro878=)
c.1068A>C (p.Pro356=)
n.3052A>C
n.3068A>C
2g.227054713G>ACA350840336COL4A4c.2741C>T (p.Pro914Leu)
c.2186C>T (p.Pro729Leu)
c.2633C>T (p.Pro878Leu)
c.1067C>T (p.Pro356Leu)
n.3051C>T
n.3067C>T
2g.227054713G>CCA350840338COL4A4c.2741C>G (p.Pro914Arg)
c.2186C>G (p.Pro729Arg)
c.2633C>G (p.Pro878Arg)
c.1067C>G (p.Pro356Arg)
n.3051C>G
n.3067C>G
 gnomAD v4
2g.227054713G=CA1332745725COL4A4c.2741C= (p.Pro914=)
c.2186C= (p.Pro729=)
c.2633C= (p.Pro878=)
c.1067C= (p.Pro356=)
n.3051C=
n.3067C=
2g.227054713G>TCA350840334COL4A4c.2741C>A (p.Pro914Gln)
c.2186C>A (p.Pro729Gln)
c.2633C>A (p.Pro878Gln)
c.1067C>A (p.Pro356Gln)
n.3051C>A
n.3067C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227054715_227054723delCA2586971581COL4A4c.2733_2741del (p.Gly912_Pro914del)
c.2178_2186del (p.Gly727_Pro729del)
c.2625_2633del (p.Gly876_Pro878del)
c.1059_1067del (p.Gly354_Pro356del)
n.3043_3051del
n.3059_3067del
2g.227054714G>ACA350840339COL4A4c.2740C>T (p.Pro914Ser)
c.2185C>T (p.Pro729Ser)
c.2632C>T (p.Pro878Ser)
c.1066C>T (p.Pro356Ser)
n.3050C>T
n.3066C>T
 gnomAD v4
2g.227054714G>CCA350840340COL4A4c.2740C>G (p.Pro914Ala)
c.2185C>G (p.Pro729Ala)
c.2632C>G (p.Pro878Ala)
c.1066C>G (p.Pro356Ala)
n.3050C>G
n.3066C>G
2g.227054714G>TCA350840342COL4A4c.2740C>A (p.Pro914Thr)
c.2185C>A (p.Pro729Thr)
c.2632C>A (p.Pro878Thr)
c.1066C>A (p.Pro356Thr)
n.3050C>A
n.3066C>A
 COSMIC
2g.227054715G>ACA431499321COL4A4c.2739C>T (p.Phe913=)
c.2184C>T (p.Phe728=)
c.2631C>T (p.Phe877=)
c.1065C>T (p.Phe355=)
n.3049C>T
n.3065C>T
 COSMIC
2g.227054715G>CCA350840343COL4A4c.2739C>G (p.Phe913Leu)
c.2184C>G (p.Phe728Leu)
c.2631C>G (p.Phe877Leu)
c.1065C>G (p.Phe355Leu)
n.3049C>G
n.3065C>G
2g.227054715G>TCA350840345COL4A4c.2739C>A (p.Phe913Leu)
c.2184C>A (p.Phe728Leu)
c.2631C>A (p.Phe877Leu)
c.1065C>A (p.Phe355Leu)
n.3049C>A
n.3065C>A
2g.227054716A>CCA350840351COL4A4c.2738T>G (p.Phe913Cys)
c.2183T>G (p.Phe728Cys)
c.2630T>G (p.Phe877Cys)
c.1064T>G (p.Phe355Cys)
n.3048T>G
n.3064T>G
2g.227054716A>GCA350840347COL4A4c.2738T>C (p.Phe913Ser)
c.2183T>C (p.Phe728Ser)
c.2630T>C (p.Phe877Ser)
c.1064T>C (p.Phe355Ser)
n.3048T>C
n.3064T>C
2g.227054716A>TCA350840349COL4A4c.2738T>A (p.Phe913Tyr)
c.2183T>A (p.Phe728Tyr)
c.2630T>A (p.Phe877Tyr)
c.1064T>A (p.Phe355Tyr)
n.3048T>A
n.3064T>A
2g.227054717A>CCA350840352COL4A4c.2737T>G (p.Phe913Val)
c.2182T>G (p.Phe728Val)
c.2629T>G (p.Phe877Val)
c.1063T>G (p.Phe355Val)
n.3047T>G
n.3063T>G
2g.227054717A>GCA350840353COL4A4c.2737T>C (p.Phe913Leu)
c.2182T>C (p.Phe728Leu)
c.2629T>C (p.Phe877Leu)
c.1063T>C (p.Phe355Leu)
n.3047T>C
n.3063T>C
2g.227054717A>TCA350840356COL4A4c.2737T>A (p.Phe913Ile)
c.2182T>A (p.Phe728Ile)
c.2629T>A (p.Phe877Ile)
c.1063T>A (p.Phe355Ile)
n.3047T>A
n.3063T>A
2g.227054718A>CCA431499322COL4A4c.2736T>G (p.Gly912=)
c.2181T>G (p.Gly727=)
c.2628T>G (p.Gly876=)
c.1062T>G (p.Gly354=)
n.3046T>G
n.3062T>G
2g.227054718A>GCA431499323COL4A4c.2736T>C (p.Gly912=)
c.2181T>C (p.Gly727=)
c.2628T>C (p.Gly876=)
c.1062T>C (p.Gly354=)
n.3046T>C
n.3062T>C
2g.227054718A>TCA431499324COL4A4c.2736T>A (p.Gly912=)
c.2181T>A (p.Gly727=)
c.2628T>A (p.Gly876=)
c.1062T>A (p.Gly354=)
n.3046T>A
n.3062T>A
2g.227054719C>ACA350840357COL4A4c.2735G>T (p.Gly912Val)
c.2180G>T (p.Gly727Val)
c.2627G>T (p.Gly876Val)
c.1061G>T (p.Gly354Val)
n.3045G>T
n.3061G>T
2g.227054719C>GCA350840359COL4A4c.2735G>C (p.Gly912Ala)
c.2180G>C (p.Gly727Ala)
c.2627G>C (p.Gly876Ala)
c.1061G>C (p.Gly354Ala)
n.3045G>C
n.3061G>C
2g.227054719C>TCA350840360COL4A4c.2735G>A (p.Gly912Asp)
c.2180G>A (p.Gly727Asp)
c.2627G>A (p.Gly876Asp)
c.1061G>A (p.Gly354Asp)
n.3045G>A
n.3061G>A
2g.227054720C>ACA350840363COL4A4c.2734G>T (p.Gly912Cys)
c.2179G>T (p.Gly727Cys)
c.2626G>T (p.Gly876Cys)
c.1060G>T (p.Gly354Cys)
n.3044G>T
n.3060G>T
2g.227054720C=CA1332745726COL4A4c.2734G= (p.Gly912=)
c.2179G= (p.Gly727=)
c.2626G= (p.Gly876=)
c.1060G= (p.Gly354=)
n.3044G=
n.3060G=
2g.227054720C>GCA350840364COL4A4c.2734G>C (p.Gly912Arg)
c.2179G>C (p.Gly727Arg)
c.2626G>C (p.Gly876Arg)
c.1060G>C (p.Gly354Arg)
n.3044G>C
n.3060G>C
 ClinVar dbSNP
2g.227054720C>TCA350840362COL4A4c.2734G>A (p.Gly912Ser)
c.2179G>A (p.Gly727Ser)
c.2626G>A (p.Gly876Ser)
c.1060G>A (p.Gly354Ser)
n.3044G>A
n.3060G>A
 ClinVar dbSNP
2g.227054721A>CCA431499325COL4A4c.2733T>G (p.Pro911=)
c.2178T>G (p.Pro726=)
c.2625T>G (p.Pro875=)
c.1059T>G (p.Pro353=)
n.3043T>G
n.3059T>G
2g.227054721A>GCA431499327COL4A4c.2733T>C (p.Pro911=)
c.2178T>C (p.Pro726=)
c.2625T>C (p.Pro875=)
c.1059T>C (p.Pro353=)
n.3043T>C
n.3059T>C
2g.227054721A>TCA431499326COL4A4c.2733T>A (p.Pro911=)
c.2178T>A (p.Pro726=)
c.2625T>A (p.Pro875=)
c.1059T>A (p.Pro353=)
n.3043T>A
n.3059T>A
2g.227054722G>ACA350840366COL4A4c.2732C>T (p.Pro911Leu)
c.2177C>T (p.Pro726Leu)
c.2624C>T (p.Pro875Leu)
c.1058C>T (p.Pro353Leu)
n.3042C>T
n.3058C>T
2g.227054722G>CCA2144725COL4A4c.2732C>G (p.Pro911Arg)
c.2177C>G (p.Pro726Arg)
c.2624C>G (p.Pro875Arg)
c.1058C>G (p.Pro353Arg)
n.3042C>G
n.3058C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227054722G=CA1332745727COL4A4c.2732C= (p.Pro911=)
c.2177C= (p.Pro726=)
c.2624C= (p.Pro875=)
c.1058C= (p.Pro353=)
n.3042C=
n.3058C=
2g.227054722G>TCA350840368COL4A4c.2732C>A (p.Pro911His)
c.2177C>A (p.Pro726His)
c.2624C>A (p.Pro875His)
c.1058C>A (p.Pro353His)
n.3042C>A
n.3058C>A
2g.227054723G>ACA350840370COL4A4c.2731C>T (p.Pro911Ser)
c.2176C>T (p.Pro726Ser)
c.2623C>T (p.Pro875Ser)
c.1057C>T (p.Pro353Ser)
n.3041C>T
n.3057C>T
 dbSNP
2g.227054723G>CCA350840372COL4A4c.2731C>G (p.Pro911Ala)
c.2176C>G (p.Pro726Ala)
c.2623C>G (p.Pro875Ala)
c.1057C>G (p.Pro353Ala)
n.3041C>G
n.3057C>G
2g.227054723G=CA1332745728COL4A4c.2731C= (p.Pro911=)
c.2176C= (p.Pro726=)
c.2623C= (p.Pro875=)
c.1057C= (p.Pro353=)
n.3041C=
n.3057C=
2g.227054723G>TCA350840371COL4A4c.2731C>A (p.Pro911Thr)
c.2176C>A (p.Pro726Thr)
c.2623C>A (p.Pro875Thr)
c.1057C>A (p.Pro353Thr)
n.3041C>A
n.3057C>A
2g.227054724C>ACA431499328COL4A4c.2730G>T (p.Leu910=)
c.2175G>T (p.Leu725=)
c.2622G>T (p.Leu874=)
c.1056G>T (p.Leu352=)
n.3040G>T
n.3056G>T
 gnomAD v4
2g.227054724C>GCA431499329COL4A4c.2730G>C (p.Leu910=)
c.2175G>C (p.Leu725=)
c.2622G>C (p.Leu874=)
c.1056G>C (p.Leu352=)
n.3040G>C
n.3056G>C
2g.227054724C>TCA431499330COL4A4c.2730G>A (p.Leu910=)
c.2175G>A (p.Leu725=)
c.2622G>A (p.Leu874=)
c.1056G>A (p.Leu352=)
n.3040G>A
n.3056G>A
 ClinVar dbSNP
2g.227054725A=CA1332745729COL4A4c.2729T= (p.Leu910=)
c.2174T= (p.Leu725=)
c.2621T= (p.Leu874=)
c.1055T= (p.Leu352=)
n.3039T=
n.3055T=
2g.227054725A>CCA350840374COL4A4c.2729T>G (p.Leu910Arg)
c.2174T>G (p.Leu725Arg)
c.2621T>G (p.Leu874Arg)
c.1055T>G (p.Leu352Arg)
n.3039T>G
n.3055T>G
 dbSNP gnomAD v2 gnomAD v4
2g.227054725A>GCA350840376COL4A4c.2729T>C (p.Leu910Pro)
c.2174T>C (p.Leu725Pro)
c.2621T>C (p.Leu874Pro)
c.1055T>C (p.Leu352Pro)
n.3039T>C
n.3055T>C
2g.227054725A>TCA350840378COL4A4c.2729T>A (p.Leu910Gln)
c.2174T>A (p.Leu725Gln)
c.2621T>A (p.Leu874Gln)
c.1055T>A (p.Leu352Gln)
n.3039T>A
n.3055T>A
2g.227054726G>ACA431499331COL4A4c.2728C>T (p.Leu910=)
c.2173C>T (p.Leu725=)
c.2620C>T (p.Leu874=)
c.1054C>T (p.Leu352=)
n.3038C>T
n.3054C>T
2g.227054726G>CCA350840379COL4A4c.2728C>G (p.Leu910Val)
c.2173C>G (p.Leu725Val)
c.2620C>G (p.Leu874Val)
c.1054C>G (p.Leu352Val)
n.3038C>G
n.3054C>G
2g.227054726G>TCA350840380COL4A4c.2728C>A (p.Leu910Met)
c.2173C>A (p.Leu725Met)
c.2620C>A (p.Leu874Met)
c.1054C>A (p.Leu352Met)
n.3038C>A
n.3054C>A
2g.227054727C>ACA431499332COL4A4c.2727G>T (p.Gly909=)
c.2172G>T (p.Gly724=)
c.2619G>T (p.Gly873=)
c.1053G>T (p.Gly351=)
n.3037G>T
n.3053G>T
2g.227054727C=CA1332745730COL4A4c.2727G= (p.Gly909=)
c.2172G= (p.Gly724=)
c.2619G= (p.Gly873=)
c.1053G= (p.Gly351=)
n.3037G=
n.3053G=
2g.227054727C>GCA431499333COL4A4c.2727G>C (p.Gly909=)
c.2172G>C (p.Gly724=)
c.2619G>C (p.Gly873=)
c.1053G>C (p.Gly351=)
n.3037G>C
n.3053G>C
2g.227054727C>TCA2144726COL4A4c.2727G>A (p.Gly909=)
c.2172G>A (p.Gly724=)
c.2619G>A (p.Gly873=)
c.1053G>A (p.Gly351=)
n.3037G>A
n.3053G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054731dupCA2663407867COL4A4c.2727dup (p.Leu910AlafsTer?)
c.2172dup (p.Leu725AlafsTer?)
c.2619dup (p.Leu874AlafsTer?)
c.1053dup (p.Leu352AlafsTer?)
n.3037dup
n.3053dup
 gnomAD v4
2g.227054728C>ACA350840383COL4A4c.2726G>T (p.Gly909Val)
c.2171G>T (p.Gly724Val)
c.2618G>T (p.Gly873Val)
c.1052G>T (p.Gly351Val)
n.3036G>T
n.3052G>T
 ClinVar
2g.227054728C>GCA350840385COL4A4c.2726G>C (p.Gly909Ala)
c.2171G>C (p.Gly724Ala)
c.2618G>C (p.Gly873Ala)
c.1052G>C (p.Gly351Ala)
n.3036G>C
n.3052G>C
2g.227054728C>TCA350840386COL4A4c.2726G>A (p.Gly909Glu)
c.2171G>A (p.Gly724Glu)
c.2618G>A (p.Gly873Glu)
c.1052G>A (p.Gly351Glu)
n.3036G>A
n.3052G>A
 ClinVar dbSNP
2g.227054729C>ACA350840388COL4A4c.2725G>T (p.Gly909Trp)
c.2170G>T (p.Gly724Trp)
c.2617G>T (p.Gly873Trp)
c.1051G>T (p.Gly351Trp)
n.3035G>T
n.3051G>T
2g.227054729C>GCA350840389COL4A4c.2725G>C (p.Gly909Arg)
c.2170G>C (p.Gly724Arg)
c.2617G>C (p.Gly873Arg)
c.1051G>C (p.Gly351Arg)
n.3035G>C
n.3051G>C
2g.227054729C>TCA350840391COL4A4c.2725G>A (p.Gly909Arg)
c.2170G>A (p.Gly724Arg)
c.2617G>A (p.Gly873Arg)
c.1051G>A (p.Gly351Arg)
n.3035G>A
n.3051G>A
2g.227054730C>ACA431499334COL4A4c.2724G>T (p.Arg908=)
c.2169G>T (p.Arg723=)
c.2616G>T (p.Arg872=)
c.1050G>T (p.Arg350=)
n.3034G>T
n.3050G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227054730C=CA1332745731COL4A4c.2724G= (p.Arg908=)
c.2169G= (p.Arg723=)
c.2616G= (p.Arg872=)
c.1050G= (p.Arg350=)
n.3034G=
n.3050G=
2g.227054730C>GCA431499335COL4A4c.2724G>C (p.Arg908=)
c.2169G>C (p.Arg723=)
c.2616G>C (p.Arg872=)
c.1050G>C (p.Arg350=)
n.3034G>C
n.3050G>C
2g.227054730C>TCA431499336COL4A4c.2724G>A (p.Arg908=)
c.2169G>A (p.Arg723=)
c.2616G>A (p.Arg872=)
c.1050G>A (p.Arg350=)
n.3034G>A
n.3050G>A
2g.227054731C>ACA350840393COL4A4c.2723G>T (p.Arg908Leu)
c.2168G>T (p.Arg723Leu)
c.2615G>T (p.Arg872Leu)
c.1049G>T (p.Arg350Leu)
n.3033G>T
n.3049G>T
 gnomAD v4
2g.227054731C=CA1332745732COL4A4c.2723G= (p.Arg908=)
c.2168G= (p.Arg723=)
c.2615G= (p.Arg872=)
c.1049G= (p.Arg350=)
n.3033G=
n.3049G=
2g.227054731C>GCA350840395COL4A4c.2723G>C (p.Arg908Pro)
c.2168G>C (p.Arg723Pro)
c.2615G>C (p.Arg872Pro)
c.1049G>C (p.Arg350Pro)
n.3033G>C
n.3049G>C
2g.227054731C>TCA2144727COL4A4c.2723G>A (p.Arg908Gln)
c.2168G>A (p.Arg723Gln)
c.2615G>A (p.Arg872Gln)
c.1049G>A (p.Arg350Gln)
n.3033G>A
n.3049G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054732G>ACA2144728COL4A4c.2722C>T (p.Arg908Trp)
c.2167C>T (p.Arg723Trp)
c.2614C>T (p.Arg872Trp)
c.1048C>T (p.Arg350Trp)
n.3032C>T
n.3048C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227054732G>CCA350840398COL4A4c.2722C>G (p.Arg908Gly)
c.2167C>G (p.Arg723Gly)
c.2614C>G (p.Arg872Gly)
c.1048C>G (p.Arg350Gly)
n.3032C>G
n.3048C>G
2g.227054732G=CA1332745733COL4A4c.2722C= (p.Arg908=)
c.2167C= (p.Arg723=)
c.2614C= (p.Arg872=)
c.1048C= (p.Arg350=)
n.3032C=
n.3048C=
2g.227054732G>TCA431499337COL4A4c.2722C>A (p.Arg908=)
c.2167C>A (p.Arg723=)
c.2614C>A (p.Arg872=)
c.1048C>A (p.Arg350=)
n.3032C>A
n.3048C>A
 COSMIC
2g.227054735dupCA539874946COL4A4c.2722dup (p.Arg908ProfsTer?)
c.2167dup (p.Arg723ProfsTer?)
c.2614dup (p.Arg872ProfsTer?)
c.1048dup (p.Arg350ProfsTer?)
n.3032dup
n.3048dup
 dbSNP gnomAD v2 gnomAD v4
2g.227054733G>ACA66583931COL4A4c.2721C>T (p.Pro907=)
c.2166C>T (p.Pro722=)
c.2613C>T (p.Pro871=)
c.1047C>T (p.Pro349=)
n.3031C>T
n.3047C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227054733G>CCA431499338COL4A4c.2721C>G (p.Pro907=)
c.2166C>G (p.Pro722=)
c.2613C>G (p.Pro871=)
c.1047C>G (p.Pro349=)
n.3031C>G
n.3047C>G
2g.227054733G=CA1332745734COL4A4c.2721C= (p.Pro907=)
c.2166C= (p.Pro722=)
c.2613C= (p.Pro871=)
c.1047C= (p.Pro349=)
n.3031C=
n.3047C=
2g.227054733G>TCA431499339COL4A4c.2721C>A (p.Pro907=)
c.2166C>A (p.Pro722=)
c.2613C>A (p.Pro871=)
c.1047C>A (p.Pro349=)
n.3031C>A
n.3047C>A
2g.227054734G>ACA350840400COL4A4c.2720C>T (p.Pro907Leu)
c.2165C>T (p.Pro722Leu)
c.2612C>T (p.Pro871Leu)
c.1046C>T (p.Pro349Leu)
n.3030C>T
n.3046C>T
2g.227054734G>CCA350840402COL4A4c.2720C>G (p.Pro907Arg)
c.2165C>G (p.Pro722Arg)
c.2612C>G (p.Pro871Arg)
c.1046C>G (p.Pro349Arg)
n.3030C>G
n.3046C>G
2g.227054734G>TCA350840404COL4A4c.2720C>A (p.Pro907His)
c.2165C>A (p.Pro722His)
c.2612C>A (p.Pro871His)
c.1046C>A (p.Pro349His)
n.3030C>A
n.3046C>A
2g.227054735G>ACA2144730COL4A4c.2719C>T (p.Pro907Ser)
c.2164C>T (p.Pro722Ser)
c.2611C>T (p.Pro871Ser)
c.1045C>T (p.Pro349Ser)
n.3029C>T
n.3045C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227054735G>CCA350840405COL4A4c.2719C>G (p.Pro907Ala)
c.2164C>G (p.Pro722Ala)
c.2611C>G (p.Pro871Ala)
c.1045C>G (p.Pro349Ala)
n.3029C>G
n.3045C>G
2g.227054735G=CA1332745736COL4A4c.2719C= (p.Pro907=)
c.2164C= (p.Pro722=)
c.2611C= (p.Pro871=)
c.1045C= (p.Pro349=)
n.3029C=
n.3045C=
2g.227054735G>TCA350840406COL4A4c.2719C>A (p.Pro907Thr)
c.2164C>A (p.Pro722Thr)
c.2611C>A (p.Pro871Thr)
c.1045C>A (p.Pro349Thr)
n.3029C>A
n.3045C>A
 dbSNP
2g.227054735_227054736delinsGTCA1332745735COL4A4c.2718_2719delinsAC (p.Gly906=)
c.2163_2164delinsAC (p.Gly721=)
c.2610_2611delinsAC (p.Gly870=)
c.1044_1045delinsAC (p.Gly348=)
n.3028_3029delinsAC
n.3044_3045delinsAC
2g.227054736delCA2144729COL4A4c.2718del (p.Arg908GlyfsTer?)
c.2163del (p.Arg723GlyfsTer?)
c.2610del (p.Arg872GlyfsTer?)
c.1044del (p.Arg350GlyfsTer?)
n.3028del
n.3044del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227054736T>ACA431499342COL4A4c.2718A>T (p.Gly906=)
c.2163A>T (p.Gly721=)
c.2610A>T (p.Gly870=)
c.1044A>T (p.Gly348=)
n.3028A>T
n.3044A>T
2g.227054736T>CCA431499340COL4A4c.2718A>G (p.Gly906=)
c.2163A>G (p.Gly721=)
c.2610A>G (p.Gly870=)
c.1044A>G (p.Gly348=)
n.3028A>G
n.3044A>G
2g.227054736T>GCA431499341COL4A4c.2718A>C (p.Gly906=)
c.2163A>C (p.Gly721=)
c.2610A>C (p.Gly870=)
c.1044A>C (p.Gly348=)
n.3028A>C
n.3044A>C
2g.227054737C>ACA350840410COL4A4c.2717G>T (p.Gly906Val)
c.2162G>T (p.Gly721Val)
c.2609G>T (p.Gly870Val)
c.1043G>T (p.Gly348Val)
n.3027G>T
n.3043G>T
 COSMIC
2g.227054737C>GCA350840411COL4A4c.2717G>C (p.Gly906Ala)
c.2162G>C (p.Gly721Ala)
c.2609G>C (p.Gly870Ala)
c.1043G>C (p.Gly348Ala)
n.3027G>C
n.3043G>C
2g.227054737C>TCA350840409COL4A4c.2717G>A (p.Gly906Glu)
c.2162G>A (p.Gly721Glu)
c.2609G>A (p.Gly870Glu)
c.1043G>A (p.Gly348Glu)
n.3027G>A
n.3043G>A
 COSMIC
2g.227054738C>ACA350840413COL4A4c.2717-1G>T (n.2717-1G>T)
c.2162-1G>T (n.2162-1G>T)
c.2609-1G>T (n.2609-1G>T)
c.1043-1G>T (n.1043-1G>T)
n.3027-1G>T
n.3043-1G>T
2g.227054738C>GCA350840415COL4A4c.2717-1G>C (n.2717-1G>C)
c.2162-1G>C (n.2162-1G>C)
c.2609-1G>C (n.2609-1G>C)
c.1043-1G>C (n.1043-1G>C)
n.3027-1G>C
n.3043-1G>C
2g.227054738C>TCA350840416COL4A4c.2717-1G>A (n.2717-1G>A)
c.2162-1G>A (n.2162-1G>A)
c.2609-1G>A (n.2609-1G>A)
c.1043-1G>A (n.1043-1G>A)
n.3027-1G>A
n.3043-1G>A
2g.227054739T>ACA350840417COL4A4c.2717-2A>T (n.2717-2A>T)
c.2162-2A>T (n.2162-2A>T)
c.2609-2A>T (n.2609-2A>T)
c.1043-2A>T (n.1043-2A>T)
n.3027-2A>T
n.3043-2A>T
2g.227054739T>CCA350840418COL4A4c.2717-2A>G (n.2717-2A>G)
c.2162-2A>G (n.2162-2A>G)
c.2609-2A>G (n.2609-2A>G)
c.1043-2A>G (n.1043-2A>G)
n.3027-2A>G
n.3043-2A>G
 ClinVar dbSNP gnomAD v4
2g.227054739T>GCA350840420COL4A4c.2717-2A>C (n.2717-2A>C)
c.2162-2A>C (n.2162-2A>C)
c.2609-2A>C (n.2609-2A>C)
c.1043-2A>C (n.1043-2A>C)
n.3027-2A>C
n.3043-2A>C
2g.227054740G>ACA2144731COL4A4c.2717-3C>T (n.2717-3C>T)
c.2162-3C>T (n.2162-3C>T)
c.2609-3C>T (n.2609-3C>T)
c.1043-3C>T (n.1043-3C>T)
n.3027-3C>T
n.3043-3C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054740G>CCA2663407868COL4A4c.2717-3C>G (n.2717-3C>G)
c.2162-3C>G (n.2162-3C>G)
c.2609-3C>G (n.2609-3C>G)
c.1043-3C>G (n.1043-3C>G)
n.3027-3C>G
n.3043-3C>G
 gnomAD v4
2g.227054740G=CA1332745737COL4A4c.2717-3C= (n.2717-3C=)
c.2162-3C= (n.2162-3C=)
c.2609-3C= (n.2609-3C=)
c.1043-3C= (n.1043-3C=)
n.3027-3C=
n.3043-3C=
2g.227054742T>ACA2144732COL4A4c.2717-5A>T (n.2717-5A>T)
c.2162-5A>T (n.2162-5A>T)
c.2609-5A>T (n.2609-5A>T)
c.1043-5A>T (n.1043-5A>T)
n.3027-5A>T
n.3043-5A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054742T>CCA2581824694COL4A4c.2717-5A>G (n.2717-5A>G)
c.2162-5A>G (n.2162-5A>G)
c.2609-5A>G (n.2609-5A>G)
c.1043-5A>G (n.1043-5A>G)
n.3027-5A>G
n.3043-5A>G
2g.227054742T>GCA2581824693COL4A4c.2717-5A>C (n.2717-5A>C)
c.2162-5A>C (n.2162-5A>C)
c.2609-5A>C (n.2609-5A>C)
c.1043-5A>C (n.1043-5A>C)
n.3027-5A>C
n.3043-5A>C
2g.227054742T=CA1332745738COL4A4c.2717-5A= (n.2717-5A=)
c.2162-5A= (n.2162-5A=)
c.2609-5A= (n.2609-5A=)
c.1043-5A= (n.1043-5A=)
n.3027-5A=
n.3043-5A=
2g.227054743G>ACA765667412COL4A4c.2717-6C>T (n.2717-6C>T)
c.2162-6C>T (n.2162-6C>T)
c.2609-6C>T (n.2609-6C>T)
c.1043-6C>T (n.1043-6C>T)
n.3027-6C>T
n.3043-6C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227054743G=CA1332745739COL4A4c.2717-6C= (n.2717-6C=)
c.2162-6C= (n.2162-6C=)
c.2609-6C= (n.2609-6C=)
c.1043-6C= (n.1043-6C=)
n.3027-6C=
n.3043-6C=
2g.227054744A>GCA2663407869COL4A4c.2717-7T>C (n.2717-7T>C)
c.2162-7T>C (n.2162-7T>C)
c.2609-7T>C (n.2609-7T>C)
c.1043-7T>C (n.1043-7T>C)
n.3027-7T>C
n.3043-7T>C
 gnomAD v4
2g.227054746A>GCA2577263503COL4A4c.2717-9T>C (n.2717-9T>C)
c.2162-9T>C (n.2162-9T>C)
c.2609-9T>C (n.2609-9T>C)
c.1043-9T>C (n.1043-9T>C)
n.3027-9T>C
n.3043-9T>C
2g.227054748G>ACA539874947COL4A4c.2717-11C>T (n.2717-11C>T)
c.2162-11C>T (n.2162-11C>T)
c.2609-11C>T (n.2609-11C>T)
c.1043-11C>T (n.1043-11C>T)
n.3027-11C>T
n.3043-11C>T
 dbSNP gnomAD v2 gnomAD v4
2g.227054748G=CA1332745740COL4A4c.2717-11C= (n.2717-11C=)
c.2162-11C= (n.2162-11C=)
c.2609-11C= (n.2609-11C=)
c.1043-11C= (n.1043-11C=)
n.3027-11C=
n.3043-11C=
2g.227054750G>ACA2663407870COL4A4c.2717-13C>T (n.2717-13C>T)
c.2162-13C>T (n.2162-13C>T)
c.2609-13C>T (n.2609-13C>T)
c.1043-13C>T (n.1043-13C>T)
n.3027-13C>T
n.3043-13C>T
 gnomAD v4
2g.227054750G>CCA1332745743COL4A4c.2717-13C>G (n.2717-13C>G)
c.2162-13C>G (n.2162-13C>G)
c.2609-13C>G (n.2609-13C>G)
c.1043-13C>G (n.1043-13C>G)
n.3027-13C>G
n.3043-13C>G
 dbSNP
2g.227054750G=CA1332745741COL4A4c.2717-13C= (n.2717-13C=)
c.2162-13C= (n.2162-13C=)
c.2609-13C= (n.2609-13C=)
c.1043-13C= (n.1043-13C=)
n.3027-13C=
n.3043-13C=
2g.227054750G>TCA1332745742COL4A4c.2717-13C>A (n.2717-13C>A)
c.2162-13C>A (n.2162-13C>A)
c.2609-13C>A (n.2609-13C>A)
c.1043-13C>A (n.1043-13C>A)
n.3027-13C>A
n.3043-13C>A
 dbSNP
2g.227054751A>CCA2663407871COL4A4c.2717-14T>G (n.2717-14T>G)
c.2162-14T>G (n.2162-14T>G)
c.2609-14T>G (n.2609-14T>G)
c.1043-14T>G (n.1043-14T>G)
n.3027-14T>G
n.3043-14T>G
 gnomAD v4
2g.227054752G>ACA2739278760COL4A4c.2717-15C>T (n.2717-15C>T)
c.2162-15C>T (n.2162-15C>T)
c.2609-15C>T (n.2609-15C>T)
c.1043-15C>T (n.1043-15C>T)
n.3027-15C>T
n.3043-15C>T
 ClinVar
2g.227054752G=CA1332745744COL4A4c.2717-15C= (n.2717-15C=)
c.2162-15C= (n.2162-15C=)
c.2609-15C= (n.2609-15C=)
c.1043-15C= (n.1043-15C=)
n.3027-15C=
n.3043-15C=
2g.227054752G>TCA2144733COL4A4c.2717-15C>A (n.2717-15C>A)
c.2162-15C>A (n.2162-15C>A)
c.2609-15C>A (n.2609-15C>A)
c.1043-15C>A (n.1043-15C>A)
n.3027-15C>A
n.3043-15C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054752_227054753delinsTTCA2499215713COL4A4c.2717-16_2717-15delinsAA (n.2717-16_2717-15delinsAA)
c.2162-16_2162-15delinsAA (n.2162-16_2162-15delinsAA)
c.2609-16_2609-15delinsAA (n.2609-16_2609-15delinsAA)
c.1043-16_1043-15delinsAA (n.1043-16_1043-15delinsAA)
n.3027-16_3027-15delinsAA
n.3043-16_3043-15delinsAA
 ClinVar dbSNP
2g.227054753C=CA1332745745COL4A4c.2717-16G= (n.2717-16G=)
c.2162-16G= (n.2162-16G=)
c.2609-16G= (n.2609-16G=)
c.1043-16G= (n.1043-16G=)
n.3027-16G=
n.3043-16G=
2g.227054753C>TCA2144734COL4A4c.2717-16G>A (n.2717-16G>A)
c.2162-16G>A (n.2162-16G>A)
c.2609-16G>A (n.2609-16G>A)
c.1043-16G>A (n.1043-16G>A)
n.3027-16G>A
n.3043-16G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054754A=CA1332745746COL4A4c.2717-17T= (n.2717-17T=)
c.2162-17T= (n.2162-17T=)
c.2609-17T= (n.2609-17T=)
c.1043-17T= (n.1043-17T=)
n.3027-17T=
n.3043-17T=
2g.227054754A>GCA2144735COL4A4c.2717-17T>C (n.2717-17T>C)
c.2162-17T>C (n.2162-17T>C)
c.2609-17T>C (n.2609-17T>C)
c.1043-17T>C (n.1043-17T>C)
n.3027-17T>C
n.3043-17T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054755T>ACA2663407872COL4A4c.2717-18A>T (n.2717-18A>T)
c.2162-18A>T (n.2162-18A>T)
c.2609-18A>T (n.2609-18A>T)
c.1043-18A>T (n.1043-18A>T)
n.3027-18A>T
n.3043-18A>T
 gnomAD v4
2g.227054756A=CA1332745747COL4A4c.2717-19T= (n.2717-19T=)
c.2162-19T= (n.2162-19T=)
c.2609-19T= (n.2609-19T=)
c.1043-19T= (n.1043-19T=)
n.3027-19T=
n.3043-19T=
2g.227054756A>GCA2144736COL4A4c.2717-19T>C (n.2717-19T>C)
c.2162-19T>C (n.2162-19T>C)
c.2609-19T>C (n.2609-19T>C)
c.1043-19T>C (n.1043-19T>C)
n.3027-19T>C
n.3043-19T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054759G>CCA1332745749COL4A4c.2717-22C>G (n.2717-22C>G)
c.2162-22C>G (n.2162-22C>G)
c.2609-22C>G (n.2609-22C>G)
c.1043-22C>G (n.1043-22C>G)
n.3027-22C>G
n.3043-22C>G
 dbSNP
2g.227054759G=CA1332745748COL4A4c.2717-22C= (n.2717-22C=)
c.2162-22C= (n.2162-22C=)
c.2609-22C= (n.2609-22C=)
c.1043-22C= (n.1043-22C=)
n.3027-22C=
n.3043-22C=

Number of alleles fetched