Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108624275_108624293delinsTGCCTGGAGACCCAGGGCACA2450697337COL4A5c.2957_2975delinsTGCCTGGAGACCCAGGGCA (p.Leu986=)
n.2413_2431delinsTGCCTGGAGACCCAGGGCA
c.190_208delinsTGCCTGGAGACCCAGGGCA
c.2633_2651delinsTGCCTGGAGACCCAGGGCA (p.Leu878=)
c.530_548delinsTGCCTGGAGACCCAGGGCA (p.Leu177=)
c.2972_2990delinsTGCCTGGAGACCCAGGGCA (p.Leu991=)
c.1292_1310delinsTGCCTGGAGACCCAGGGCA (p.Leu431=)
Xg.108624276_108624293delCA658799838COL4A5c.2958_2975del (p.Pro987_Gln992del)
n.2414_2431del
c.191_208del
c.2634_2651del (p.Pro879_Gln884del)
c.531_548del (p.Pro178_Gln183del)
c.2973_2990del (p.Pro992_Gln997del)
c.1293_1310del (p.Pro432_Gln437del)
 ClinVar dbSNP
Xg.108624276_108624294delinsGCCTGGAGACCCAGGGCAACA2450697340COL4A5c.2958_2976delinsGCCTGGAGACCCAGGGCAA (p.Leu986=)
n.2414_2432delinsGCCTGGAGACCCAGGGCAA
c.191_209delinsGCCTGGAGACCCAGGGCAA
c.2634_2652delinsGCCTGGAGACCCAGGGCAA (p.Leu878=)
c.531_549delinsGCCTGGAGACCCAGGGCAA (p.Leu177=)
c.2973_2991delinsGCCTGGAGACCCAGGGCAA (p.Leu991=)
c.1293_1311delinsGCCTGGAGACCCAGGGCAA (p.Leu431=)
Xg.108624283_108624300delCA258783COL4A5c.2965_2982del (p.Asp989_Gly994del)
n.2421_2438del
c.198_215del
c.2641_2658del (p.Asp881_Gly886del)
c.538_555del (p.Asp180_Gly185del)
c.2980_2997del (p.Asp994_Gly999del)
c.1300_1317del (p.Asp434_Gly439del)
 ClinVar dbSNP
Xg.108624283_108624286delinsCTGAGTGCCCAGTCA2695235749COL4A5c.2965_2968delinsCTGAGTGCCCAGT (p.Asp989_Pro990delinsLeuSerAlaGlnSer)
n.2421_2424delinsCTGAGTGCCCAGT
c.198_201delinsCTGAGTGCCCAGT
c.2641_2644delinsCTGAGTGCCCAGT (p.Asp881_Pro882delinsLeuSerAlaGlnSer)
c.538_541delinsCTGAGTGCCCAGT (p.Asp180_Pro181delinsLeuSerAlaGlnSer)
c.2980_2983delinsCTGAGTGCCCAGT (p.Asp994_Pro995delinsLeuSerAlaGlnSer)
c.1300_1303delinsCTGAGTGCCCAGT (p.Asp434_Pro435delinsLeuSerAlaGlnSer)
Xg.108624284_108624301dupCA2694440385COL4A5c.2966_2983dup (p.Gly994_Leu995insHisProGlyGlnProGly)
n.2422_2439dup
c.199_216dup
c.2642_2659dup (p.Gly886_Leu887insHisProGlyGlnProGly)
c.539_556dup (p.Gly185_Leu186insHisProGlyGlnProGly)
c.2981_2998dup (p.Gly999_Leu1000insHisProGlyGlnProGly)
c.1301_1318dup (p.Gly439_Leu440insHisProGlyGlnProGly)
 gnomAD v4
Xg.108624286C>ACA413853402COL4A5c.2968C>A (p.Pro990Thr)
n.2424C>A
c.201C>A
c.2644C>A (p.Pro882Thr)
c.541C>A (p.Pro181Thr)
c.2983C>A (p.Pro995Thr)
c.1303C>A (p.Pro435Thr)
 COSMIC
Xg.108624286C>GCA413853406COL4A5c.2968C>G (p.Pro990Ala)
n.2424C>G
c.201C>G
c.2644C>G (p.Pro882Ala)
c.541C>G (p.Pro181Ala)
c.2983C>G (p.Pro995Ala)
c.1303C>G (p.Pro435Ala)
Xg.108624286C>TCA413853407COL4A5c.2968C>T (p.Pro990Ser)
n.2424C>T
c.201C>T
c.2644C>T (p.Pro882Ser)
c.541C>T (p.Pro181Ser)
c.2983C>T (p.Pro995Ser)
c.1303C>T (p.Pro435Ser)
 COSMIC COSMIC
Xg.108624287C>ACA413853415COL4A5c.2969C>A (p.Pro990Gln)
n.2425C>A
c.202C>A
c.2645C>A (p.Pro882Gln)
c.542C>A (p.Pro181Gln)
c.2984C>A (p.Pro995Gln)
c.1304C>A (p.Pro435Gln)
Xg.108624287C>GCA413853413COL4A5c.2969C>G (p.Pro990Arg)
n.2425C>G
c.202C>G
c.2645C>G (p.Pro882Arg)
c.542C>G (p.Pro181Arg)
c.2984C>G (p.Pro995Arg)
c.1304C>G (p.Pro435Arg)
Xg.108624287C>TCA413853410COL4A5c.2969C>T (p.Pro990Leu)
n.2425C>T
c.202C>T
c.2645C>T (p.Pro882Leu)
c.542C>T (p.Pro181Leu)
c.2984C>T (p.Pro995Leu)
c.1304C>T (p.Pro435Leu)
Xg.108624288A>CCA517925035COL4A5c.2970A>C (p.Pro990=)
n.2426A>C
c.203A>C
c.2646A>C (p.Pro882=)
c.543A>C (p.Pro181=)
c.2985A>C (p.Pro995=)
c.1305A>C (p.Pro435=)
Xg.108624288A>GCA517925036COL4A5c.2970A>G (p.Pro990=)
n.2426A>G
c.203A>G
c.2646A>G (p.Pro882=)
c.543A>G (p.Pro181=)
c.2985A>G (p.Pro995=)
c.1305A>G (p.Pro435=)
Xg.108624288A>TCA517925037COL4A5c.2970A>T (p.Pro990=)
n.2426A>T
c.203A>T
c.2646A>T (p.Pro882=)
c.543A>T (p.Pro181=)
c.2985A>T (p.Pro995=)
c.1305A>T (p.Pro435=)
Xg.108624289G>ACA413853418COL4A5c.2971G>A (p.Gly991Arg)
n.2427G>A
c.204G>A
c.2647G>A (p.Gly883Arg)
c.544G>A (p.Gly182Arg)
c.2986G>A (p.Gly996Arg)
c.1306G>A (p.Gly436Arg)
Xg.108624289G>CCA413853419COL4A5c.2971G>C (p.Gly991Arg)
n.2427G>C
c.204G>C
c.2647G>C (p.Gly883Arg)
c.544G>C (p.Gly182Arg)
c.2986G>C (p.Gly996Arg)
c.1306G>C (p.Gly436Arg)
Xg.108624289G>TCA413853421COL4A5c.2971G>T (p.Gly991Trp)
n.2427G>T
c.204G>T
c.2647G>T (p.Gly883Trp)
c.544G>T (p.Gly182Trp)
c.2986G>T (p.Gly996Trp)
c.1306G>T (p.Gly436Trp)
Xg.108624290G>ACA413853424COL4A5c.2972G>A (p.Gly991Glu)
n.2428G>A
c.205G>A
c.2648G>A (p.Gly883Glu)
c.545G>A (p.Gly182Glu)
c.2987G>A (p.Gly996Glu)
c.1307G>A (p.Gly436Glu)
 gnomAD v4
Xg.108624290G>CCA413853425COL4A5c.2972G>C (p.Gly991Ala)
n.2428G>C
c.205G>C
c.2648G>C (p.Gly883Ala)
c.545G>C (p.Gly182Ala)
c.2987G>C (p.Gly996Ala)
c.1307G>C (p.Gly436Ala)
Xg.108624290G>TCA413853431COL4A5c.2972G>T (p.Gly991Val)
n.2428G>T
c.205G>T
c.2648G>T (p.Gly883Val)
c.545G>T (p.Gly182Val)
c.2987G>T (p.Gly996Val)
c.1307G>T (p.Gly436Val)
Xg.108624291G>ACA517925047COL4A5c.2973G>A (p.Gly991=)
n.2429G>A
c.206G>A
c.2649G>A (p.Gly883=)
c.546G>A (p.Gly182=)
c.2988G>A (p.Gly996=)
c.1308G>A (p.Gly436=)
Xg.108624291G>CCA517925045COL4A5c.2973G>C (p.Gly991=)
n.2429G>C
c.206G>C
c.2649G>C (p.Gly883=)
c.546G>C (p.Gly182=)
c.2988G>C (p.Gly996=)
c.1308G>C (p.Gly436=)
Xg.108624291G>TCA517925046COL4A5c.2973G>T (p.Gly991=)
n.2429G>T
c.206G>T
c.2649G>T (p.Gly883=)
c.546G>T (p.Gly182=)
c.2988G>T (p.Gly996=)
c.1308G>T (p.Gly436=)
Xg.108624292C>ACA413853435COL4A5c.2974C>A (p.Gln992Lys)
n.2430C>A
c.207C>A
c.2650C>A (p.Gln884Lys)
c.547C>A (p.Gln183Lys)
c.2989C>A (p.Gln997Lys)
c.1309C>A (p.Gln437Lys)
Xg.108624292C>GCA413853439COL4A5c.2974C>G (p.Gln992Glu)
n.2430C>G
c.207C>G
c.2650C>G (p.Gln884Glu)
c.547C>G (p.Gln183Glu)
c.2989C>G (p.Gln997Glu)
c.1309C>G (p.Gln437Glu)
Xg.108624292C>TCA413853436COL4A5c.2974C>T (p.Gln992Ter)
n.2430C>T
c.207C>T
c.2650C>T (p.Gln884Ter)
c.547C>T (p.Gln183Ter)
c.2989C>T (p.Gln997Ter)
c.1309C>T (p.Gln437Ter)
 ClinVar dbSNP
Xg.108624292_108624299delinsCAACCTGGCA2450697344COL4A5c.2974_2981delinsCAACCTGG (p.Gln992=)
n.2430_2437delinsCAACCTGG
c.207_214delinsCAACCTGG
c.2650_2657delinsCAACCTGG (p.Gln884=)
c.547_554delinsCAACCTGG (p.Gln183=)
c.2989_2996delinsCAACCTGG (p.Gln997=)
c.1309_1316delinsCAACCTGG (p.Gln437=)
Xg.108624293A>CCA413853443COL4A5c.2975A>C (p.Gln992Pro)
n.2431A>C
c.208A>C
c.2651A>C (p.Gln884Pro)
c.548A>C (p.Gln183Pro)
c.2990A>C (p.Gln997Pro)
c.1310A>C (p.Gln437Pro)
Xg.108624293A>GCA413853449COL4A5c.2975A>G (p.Gln992Arg)
n.2431A>G
c.208A>G
c.2651A>G (p.Gln884Arg)
c.548A>G (p.Gln183Arg)
c.2990A>G (p.Gln997Arg)
c.1310A>G (p.Gln437Arg)
Xg.108624293A>TCA413853454COL4A5c.2975A>T (p.Gln992Leu)
n.2431A>T
c.208A>T
c.2651A>T (p.Gln884Leu)
c.548A>T (p.Gln183Leu)
c.2990A>T (p.Gln997Leu)
c.1310A>T (p.Gln437Leu)
Xg.108624294_108624300delCA891843948COL4A5c.2976_2982del (p.Gln992HisfsTer2)
n.2432_2438del
c.209_215del
c.2652_2658del (p.Gln884HisfsTer2)
c.549_555del (p.Gln183HisfsTer2)
c.2991_2997del (p.Gln997HisfsTer2)
c.1311_1317del (p.Gln437HisfsTer2)
Xg.108624294A>CCA413853458COL4A5c.2976A>C (p.Gln992His)
n.2432A>C
c.209A>C
c.2652A>C (p.Gln884His)
c.549A>C (p.Gln183His)
c.2991A>C (p.Gln997His)
c.1311A>C (p.Gln437His)
Xg.108624294A>GCA517925049COL4A5c.2976A>G (p.Gln992=)
n.2432A>G
c.209A>G
c.2652A>G (p.Gln884=)
c.549A>G (p.Gln183=)
c.2991A>G (p.Gln997=)
c.1311A>G (p.Gln437=)
Xg.108624294A>TCA413853461COL4A5c.2976A>T (p.Gln992His)
n.2432A>T
c.209A>T
c.2652A>T (p.Gln884His)
c.549A>T (p.Gln183His)
c.2991A>T (p.Gln997His)
c.1311A>T (p.Gln437His)
Xg.108624295C>ACA413853464COL4A5c.2977C>A (p.Pro993Thr)
n.2433C>A
c.210C>A
c.2653C>A (p.Pro885Thr)
c.550C>A (p.Pro184Thr)
c.2992C>A (p.Pro998Thr)
c.1312C>A (p.Pro438Thr)
Xg.108624295C>GCA413853467COL4A5c.2977C>G (p.Pro993Ala)
n.2433C>G
c.210C>G
c.2653C>G (p.Pro885Ala)
c.550C>G (p.Pro184Ala)
c.2992C>G (p.Pro998Ala)
c.1312C>G (p.Pro438Ala)
Xg.108624295C>TCA413853470COL4A5c.2977C>T (p.Pro993Ser)
n.2433C>T
c.210C>T
c.2653C>T (p.Pro885Ser)
c.550C>T (p.Pro184Ser)
c.2992C>T (p.Pro998Ser)
c.1312C>T (p.Pro438Ser)
Xg.108624296C>ACA413853473COL4A5c.2978C>A (p.Pro993His)
n.2434C>A
c.211C>A
c.2654C>A (p.Pro885His)
c.551C>A (p.Pro184His)
c.2993C>A (p.Pro998His)
c.1313C>A (p.Pro438His)
Xg.108624296C>GCA413853477COL4A5c.2978C>G (p.Pro993Arg)
n.2434C>G
c.211C>G
c.2654C>G (p.Pro885Arg)
c.551C>G (p.Pro184Arg)
c.2993C>G (p.Pro998Arg)
c.1313C>G (p.Pro438Arg)
Xg.108624296C>TCA413853480COL4A5c.2978C>T (p.Pro993Leu)
n.2434C>T
c.211C>T
c.2654C>T (p.Pro885Leu)
c.551C>T (p.Pro184Leu)
c.2993C>T (p.Pro998Leu)
c.1313C>T (p.Pro438Leu)
Xg.108624297T>ACA517925053COL4A5c.2979T>A (p.Pro993=)
n.2435T>A
c.212T>A
c.2655T>A (p.Pro885=)
c.552T>A (p.Pro184=)
c.2994T>A (p.Pro998=)
c.1314T>A (p.Pro438=)
Xg.108624297T>CCA517925054COL4A5c.2979T>C (p.Pro993=)
n.2435T>C
c.212T>C
c.2655T>C (p.Pro885=)
c.552T>C (p.Pro184=)
c.2994T>C (p.Pro998=)
c.1314T>C (p.Pro438=)
Xg.108624297T>GCA10489006COL4A5c.2979T>G (p.Pro993=)
n.2435T>G
c.212T>G
c.2655T>G (p.Pro885=)
c.552T>G (p.Pro184=)
c.2994T>G (p.Pro998=)
c.1314T>G (p.Pro438=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108624297T=CA2450697345COL4A5c.2979T= (p.Pro993=)
n.2435T=
c.212T=
c.2655T= (p.Pro885=)
c.552T= (p.Pro184=)
c.2994T= (p.Pro998=)
c.1314T= (p.Pro438=)
Xg.108624298G>ACA413853489COL4A5c.2980G>A (p.Gly994Arg)
n.2436G>A
c.213G>A
c.2656G>A (p.Gly886Arg)
c.553G>A (p.Gly185Arg)
c.2995G>A (p.Gly999Arg)
c.1315G>A (p.Gly439Arg)
 ClinVar
Xg.108624298G>CCA413853485COL4A5c.2980G>C (p.Gly994Arg)
n.2436G>C
c.213G>C
c.2656G>C (p.Gly886Arg)
c.553G>C (p.Gly185Arg)
c.2995G>C (p.Gly999Arg)
c.1315G>C (p.Gly439Arg)
Xg.108624298G>TCA413853492COL4A5c.2980G>T (p.Gly994Ter)
n.2436G>T
c.213G>T
c.2656G>T (p.Gly886Ter)
c.553G>T (p.Gly185Ter)
c.2995G>T (p.Gly999Ter)
c.1315G>T (p.Gly439Ter)
Xg.108624299G>ACA413853495COL4A5c.2981G>A (p.Gly994Glu)
n.2437G>A
c.214G>A
c.2657G>A (p.Gly886Glu)
c.554G>A (p.Gly185Glu)
c.2996G>A (p.Gly999Glu)
c.1316G>A (p.Gly439Glu)
Xg.108624299G>CCA413853497COL4A5c.2981G>C (p.Gly994Ala)
n.2437G>C
c.214G>C
c.2657G>C (p.Gly886Ala)
c.554G>C (p.Gly185Ala)
c.2996G>C (p.Gly999Ala)
c.1316G>C (p.Gly439Ala)
 ClinVar gnomAD v4
Xg.108624299G>TCA413853500COL4A5c.2981G>T (p.Gly994Val)
n.2437G>T
c.214G>T
c.2657G>T (p.Gly886Val)
c.554G>T (p.Gly185Val)
c.2996G>T (p.Gly999Val)
c.1316G>T (p.Gly439Val)
Xg.108624300A=CA2450697346COL4A5c.2982A= (p.Gly994=)
n.2438A=
c.215A=
c.2658A= (p.Gly886=)
c.555A= (p.Gly185=)
c.2997A= (p.Gly999=)
c.1317A= (p.Gly439=)
Xg.108624300A>CCA517925069COL4A5c.2982A>C (p.Gly994=)
n.2438A>C
c.215A>C
c.2658A>C (p.Gly886=)
c.555A>C (p.Gly185=)
c.2997A>C (p.Gly999=)
c.1317A>C (p.Gly439=)
Xg.108624300A>GCA517925071COL4A5c.2982A>G (p.Gly994=)
n.2438A>G
c.215A>G
c.2658A>G (p.Gly886=)
c.555A>G (p.Gly185=)
c.2997A>G (p.Gly999=)
c.1317A>G (p.Gly439=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108624300A>TCA517925066COL4A5c.2982A>T (p.Gly994=)
n.2438A>T
c.215A>T
c.2658A>T (p.Gly886=)
c.555A>T (p.Gly185=)
c.2997A>T (p.Gly999=)
c.1317A>T (p.Gly439=)
Xg.108624301C>ACA10489007COL4A5c.2983C>A (p.Leu995Met)
n.2439C>A
c.216C>A
c.2659C>A (p.Leu887Met)
c.556C>A (p.Leu186Met)
c.2998C>A (p.Leu1000Met)
c.1318C>A (p.Leu440Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108624301C=CA2450697347COL4A5c.2983C= (p.Leu995=)
n.2439C=
c.216C=
c.2659C= (p.Leu887=)
c.556C= (p.Leu186=)
c.2998C= (p.Leu1000=)
c.1318C= (p.Leu440=)
Xg.108624301C>GCA413853504COL4A5c.2983C>G (p.Leu995Val)
n.2439C>G
c.216C>G
c.2659C>G (p.Leu887Val)
c.556C>G (p.Leu186Val)
c.2998C>G (p.Leu1000Val)
c.1318C>G (p.Leu440Val)
Xg.108624301C>TCA517925073COL4A5c.2983C>T (p.Leu995=)
n.2439C>T
c.216C>T
c.2659C>T (p.Leu887=)
c.556C>T (p.Leu186=)
c.2998C>T (p.Leu1000=)
c.1318C>T (p.Leu440=)
Xg.108624302T>ACA413853515COL4A5c.2984T>A (p.Leu995Gln)
n.2440T>A
c.217T>A
c.2660T>A (p.Leu887Gln)
c.557T>A (p.Leu186Gln)
c.2999T>A (p.Leu1000Gln)
c.1319T>A (p.Leu440Gln)
Xg.108624302T>CCA413853518COL4A5c.2984T>C (p.Leu995Pro)
n.2440T>C
c.217T>C
c.2660T>C (p.Leu887Pro)
c.557T>C (p.Leu186Pro)
c.2999T>C (p.Leu1000Pro)
c.1319T>C (p.Leu440Pro)
 ClinVar
Xg.108624302T>GCA413853521COL4A5c.2984T>G (p.Leu995Arg)
n.2440T>G
c.217T>G
c.2660T>G (p.Leu887Arg)
c.557T>G (p.Leu186Arg)
c.2999T>G (p.Leu1000Arg)
c.1319T>G (p.Leu440Arg)
Xg.108624303G>ACA517925079COL4A5c.2985G>A (p.Leu995=)
n.2441G>A
c.218G>A
c.2661G>A (p.Leu887=)
c.558G>A (p.Leu186=)
c.3000G>A (p.Leu1000=)
c.1320G>A (p.Leu440=)
Xg.108624303G>CCA517925081COL4A5c.2985G>C (p.Leu995=)
n.2441G>C
c.218G>C
c.2661G>C (p.Leu887=)
c.558G>C (p.Leu186=)
c.3000G>C (p.Leu1000=)
c.1320G>C (p.Leu440=)
Xg.108624303G>TCA517925084COL4A5c.2985G>T (p.Leu995=)
n.2441G>T
c.218G>T
c.2661G>T (p.Leu887=)
c.558G>T (p.Leu186=)
c.3000G>T (p.Leu1000=)
c.1320G>T (p.Leu440=)
Xg.108624304A>CCA413853524COL4A5c.2986A>C (p.Ser996Arg)
n.2442A>C
c.219A>C
c.2662A>C (p.Ser888Arg)
c.559A>C (p.Ser187Arg)
c.3001A>C (p.Ser1001Arg)
c.1321A>C (p.Ser441Arg)
Xg.108624304A>GCA413853531COL4A5c.2986A>G (p.Ser996Gly)
n.2442A>G
c.219A>G
c.2662A>G (p.Ser888Gly)
c.559A>G (p.Ser187Gly)
c.3001A>G (p.Ser1001Gly)
c.1321A>G (p.Ser441Gly)
Xg.108624304A>TCA413853534COL4A5c.2986A>T (p.Ser996Cys)
n.2442A>T
c.219A>T
c.2662A>T (p.Ser888Cys)
c.559A>T (p.Ser187Cys)
c.3001A>T (p.Ser1001Cys)
c.1321A>T (p.Ser441Cys)
Xg.108624305G>ACA10489008COL4A5c.2987G>A (p.Ser996Asn)
n.2443G>A
c.220G>A
c.2663G>A (p.Ser888Asn)
c.560G>A (p.Ser187Asn)
c.3002G>A (p.Ser1001Asn)
c.1322G>A (p.Ser441Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108624305G>CCA413853539COL4A5c.2987G>C (p.Ser996Thr)
n.2443G>C
c.220G>C
c.2663G>C (p.Ser888Thr)
c.560G>C (p.Ser187Thr)
c.3002G>C (p.Ser1001Thr)
c.1322G>C (p.Ser441Thr)
Xg.108624305G=CA2450697348COL4A5c.2987G= (p.Ser996=)
n.2443G=
c.220G=
c.2663G= (p.Ser888=)
c.560G= (p.Ser187=)
c.3002G= (p.Ser1001=)
c.1322G= (p.Ser441=)
Xg.108624305G>TCA413853541COL4A5c.2987G>T (p.Ser996Ile)
n.2443G>T
c.220G>T
c.2663G>T (p.Ser888Ile)
c.560G>T (p.Ser187Ile)
c.3002G>T (p.Ser1001Ile)
c.1322G>T (p.Ser441Ile)
 COSMIC COSMIC
Xg.108624306T>ACA413853547COL4A5c.2988T>A (p.Ser996Arg)
n.2444T>A
c.221T>A
c.2664T>A (p.Ser888Arg)
c.561T>A (p.Ser187Arg)
c.3003T>A (p.Ser1001Arg)
c.1323T>A (p.Ser441Arg)
Xg.108624306T>CCA517925091COL4A5c.2988T>C (p.Ser996=)
n.2444T>C
c.221T>C
c.2664T>C (p.Ser888=)
c.561T>C (p.Ser187=)
c.3003T>C (p.Ser1001=)
c.1323T>C (p.Ser441=)
 dbSNP
Xg.108624306T>GCA413853544COL4A5c.2988T>G (p.Ser996Arg)
n.2444T>G
c.221T>G
c.2664T>G (p.Ser888Arg)
c.561T>G (p.Ser187Arg)
c.3003T>G (p.Ser1001Arg)
c.1323T>G (p.Ser441Arg)
 gnomAD v4
Xg.108624306T=CA2450697349COL4A5c.2988T= (p.Ser996=)
n.2444T=
c.221T=
c.2664T= (p.Ser888=)
c.561T= (p.Ser187=)
c.3003T= (p.Ser1001=)
c.1323T= (p.Ser441=)
Xg.108624307G>ACA413853551COL4A5c.2989G>A (p.Gly997Arg)
n.2445G>A
c.222G>A
c.2665G>A (p.Gly889Arg)
c.562G>A (p.Gly188Arg)
c.3004G>A (p.Gly1002Arg)
c.1324G>A (p.Gly442Arg)
Xg.108624307G>CCA413853553COL4A5c.2989G>C (p.Gly997Arg)
n.2445G>C
c.222G>C
c.2665G>C (p.Gly889Arg)
c.562G>C (p.Gly188Arg)
c.3004G>C (p.Gly1002Arg)
c.1324G>C (p.Gly442Arg)
Xg.108624307G>TCA413853558COL4A5c.2989G>T (p.Gly997Ter)
n.2445G>T
c.222G>T
c.2665G>T (p.Gly889Ter)
c.562G>T (p.Gly188Ter)
c.3004G>T (p.Gly1002Ter)
c.1324G>T (p.Gly442Ter)
Xg.108624308G>ACA413853561COL4A5c.2990G>A (p.Gly997Glu)
n.2446G>A
c.223G>A
c.2666G>A (p.Gly889Glu)
c.563G>A (p.Gly188Glu)
c.3005G>A (p.Gly1002Glu)
c.1325G>A (p.Gly442Glu)
Xg.108624308G>CCA413853564COL4A5c.2990G>C (p.Gly997Ala)
n.2446G>C
c.223G>C
c.2666G>C (p.Gly889Ala)
c.563G>C (p.Gly188Ala)
c.3005G>C (p.Gly1002Ala)
c.1325G>C (p.Gly442Ala)
Xg.108624308G>TCA413853567COL4A5c.2990G>T (p.Gly997Val)
n.2446G>T
c.223G>T
c.2666G>T (p.Gly889Val)
c.563G>T (p.Gly188Val)
c.3005G>T (p.Gly1002Val)
c.1325G>T (p.Gly442Val)
Xg.108624308_108624309insGCAACCTGGACTGAGTGTCA2695235750COL4A5c.2990_2991insGCAACCTGGACTGAGTGT (p.Gly997_Gln998insGlnProGlyLeuSerVal)
n.2446_2447insGCAACCTGGACTGAGTGT
c.223_224insGCAACCTGGACTGAGTGT
c.2666_2667insGCAACCTGGACTGAGTGT (p.Gly889_Gln890insGlnProGlyLeuSerVal)
c.563_564insGCAACCTGGACTGAGTGT (p.Gly188_Gln189insGlnProGlyLeuSerVal)
c.3005_3006insGCAACCTGGACTGAGTGT (p.Gly1002_Gln1003insGlnProGlyLeuSerVal)
c.1325_1326insGCAACCTGGACTGAGTGT (p.Gly442_Gln443insGlnProGlyLeuSerVal)
Xg.108624309A>CCA517925101COL4A5c.2991A>C (p.Gly997=)
n.2447A>C
c.224A>C
c.2667A>C (p.Gly889=)
c.564A>C (p.Gly188=)
c.3006A>C (p.Gly1002=)
c.1326A>C (p.Gly442=)
Xg.108624309A>GCA517925102COL4A5c.2991A>G (p.Gly997=)
n.2447A>G
c.224A>G
c.2667A>G (p.Gly889=)
c.564A>G (p.Gly188=)
c.3006A>G (p.Gly1002=)
c.1326A>G (p.Gly442=)
Xg.108624309A>TCA517925103COL4A5c.2991A>T (p.Gly997=)
n.2447A>T
c.224A>T
c.2667A>T (p.Gly889=)
c.564A>T (p.Gly188=)
c.3006A>T (p.Gly1002=)
c.1326A>T (p.Gly442=)
Xg.108624310C>ACA10489009COL4A5c.2992C>A (p.Gln998Lys)
n.2448C>A
c.225C>A
c.2668C>A (p.Gln890Lys)
c.565C>A (p.Gln189Lys)
c.3007C>A (p.Gln1003Lys)
c.1327C>A (p.Gln443Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108624310C=CA2450697350COL4A5c.2992C= (p.Gln998=)
n.2448C=
c.225C=
c.2668C= (p.Gln890=)
c.565C= (p.Gln189=)
c.3007C= (p.Gln1003=)
c.1327C= (p.Gln443=)
Xg.108624310C>GCA413853569COL4A5c.2992C>G (p.Gln998Glu)
n.2448C>G
c.225C>G
c.2668C>G (p.Gln890Glu)
c.565C>G (p.Gln189Glu)
c.3007C>G (p.Gln1003Glu)
c.1327C>G (p.Gln443Glu)
Xg.108624310C>TCA413853572COL4A5c.2992C>T (p.Gln998Ter)
n.2448C>T
c.225C>T
c.2668C>T (p.Gln890Ter)
c.565C>T (p.Gln189Ter)
c.3007C>T (p.Gln1003Ter)
c.1327C>T (p.Gln443Ter)
 ClinVar dbSNP
Xg.108624311A>CCA413853577COL4A5c.2993A>C (p.Gln998Pro)
n.2449A>C
c.226A>C
c.2669A>C (p.Gln890Pro)
c.566A>C (p.Gln189Pro)
c.3008A>C (p.Gln1003Pro)
c.1328A>C (p.Gln443Pro)
Xg.108624311A>GCA413853580COL4A5c.2993A>G (p.Gln998Arg)
n.2449A>G
c.226A>G
c.2669A>G (p.Gln890Arg)
c.566A>G (p.Gln189Arg)
c.3008A>G (p.Gln1003Arg)
c.1328A>G (p.Gln443Arg)
Xg.108624311A>TCA413853583COL4A5c.2993A>T (p.Gln998Leu)
n.2449A>T
c.226A>T
c.2669A>T (p.Gln890Leu)
c.566A>T (p.Gln189Leu)
c.3008A>T (p.Gln1003Leu)
c.1328A>T (p.Gln443Leu)
Xg.108624312A>CCA413853586COL4A5c.2994A>C (p.Gln998His)
n.2450A>C
c.227A>C
c.2670A>C (p.Gln890His)
c.567A>C (p.Gln189His)
c.3009A>C (p.Gln1003His)
c.1329A>C (p.Gln443His)
Xg.108624312A>GCA517925107COL4A5c.2994A>G (p.Gln998=)
n.2450A>G
c.227A>G
c.2670A>G (p.Gln890=)
c.567A>G (p.Gln189=)
c.3009A>G (p.Gln1003=)
c.1329A>G (p.Gln443=)
Xg.108624312A>TCA413853589COL4A5c.2994A>T (p.Gln998His)
n.2450A>T
c.227A>T
c.2670A>T (p.Gln890His)
c.567A>T (p.Gln189His)
c.3009A>T (p.Gln1003His)
c.1329A>T (p.Gln443His)
 gnomAD v4
Xg.108624313C>ACA413853597COL4A5c.2995C>A (p.Pro999Thr)
n.2451C>A
c.228C>A
c.2671C>A (p.Pro891Thr)
c.568C>A (p.Pro190Thr)
c.3010C>A (p.Pro1004Thr)
c.1330C>A (p.Pro444Thr)
 gnomAD v4
Xg.108624313C>GCA413853592COL4A5c.2995C>G (p.Pro999Ala)
n.2451C>G
c.228C>G
c.2671C>G (p.Pro891Ala)
c.568C>G (p.Pro190Ala)
c.3010C>G (p.Pro1004Ala)
c.1330C>G (p.Pro444Ala)
Xg.108624313C>TCA413853595COL4A5c.2995C>T (p.Pro999Ser)
n.2451C>T
c.228C>T
c.2671C>T (p.Pro891Ser)
c.568C>T (p.Pro190Ser)
c.3010C>T (p.Pro1004Ser)
c.1330C>T (p.Pro444Ser)
Xg.108624313_108624315delCA2579676604COL4A5c.2995_2997del (p.Pro999del)
n.2451_2453del
c.228_230del
c.2671_2673del (p.Pro891del)
c.568_570del (p.Pro190del)
c.3010_3012del (p.Pro1004del)
c.1330_1332del (p.Pro444del)
Xg.108624314C>ACA10489010COL4A5c.2996C>A (p.Pro999His)
n.2452C>A
c.229C>A
c.2672C>A (p.Pro891His)
c.569C>A (p.Pro190His)
c.3011C>A (p.Pro1004His)
c.1331C>A (p.Pro444His)
 dbSNP ExAC gnomAD v2
Xg.108624314C=CA2450697351COL4A5c.2996C= (p.Pro999=)
n.2452C=
c.229C=
c.2672C= (p.Pro891=)
c.569C= (p.Pro190=)
c.3011C= (p.Pro1004=)
c.1331C= (p.Pro444=)
Xg.108624314C>GCA413853605COL4A5c.2996C>G (p.Pro999Arg)
n.2452C>G
c.229C>G
c.2672C>G (p.Pro891Arg)
c.569C>G (p.Pro190Arg)
c.3011C>G (p.Pro1004Arg)
c.1331C>G (p.Pro444Arg)
Xg.108624314C>TCA413853602COL4A5c.2996C>T (p.Pro999Leu)
n.2452C>T
c.229C>T
c.2672C>T (p.Pro891Leu)
c.569C>T (p.Pro190Leu)
c.3011C>T (p.Pro1004Leu)
c.1331C>T (p.Pro444Leu)
 dbSNP gnomAD v4
Xg.108624315T>ACA517925109COL4A5c.2997T>A (p.Pro999=)
n.2453T>A
c.230T>A
c.2673T>A (p.Pro891=)
c.570T>A (p.Pro190=)
c.3012T>A (p.Pro1004=)
c.1332T>A (p.Pro444=)
 dbSNP
Xg.108624315T>CCA517925110COL4A5c.2997T>C (p.Pro999=)
n.2453T>C
c.230T>C
c.2673T>C (p.Pro891=)
c.570T>C (p.Pro190=)
c.3012T>C (p.Pro1004=)
c.1332T>C (p.Pro444=)
Xg.108624315T>GCA517925112COL4A5c.2997T>G (p.Pro999=)
n.2453T>G
c.230T>G
c.2673T>G (p.Pro891=)
c.570T>G (p.Pro190=)
c.3012T>G (p.Pro1004=)
c.1332T>G (p.Pro444=)
Xg.108624315T=CA2450697352COL4A5c.2997T= (p.Pro999=)
n.2453T=
c.230T=
c.2673T= (p.Pro891=)
c.570T= (p.Pro190=)
c.3012T= (p.Pro1004=)
c.1332T= (p.Pro444=)
Xg.108624316G>ACA413853607COL4A5c.2998G>A (p.Gly1000Arg)
n.2454G>A
c.231G>A
c.2674G>A (p.Gly892Arg)
c.571G>A (p.Gly191Arg)
c.3013G>A (p.Gly1005Arg)
c.1333G>A (p.Gly445Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108624316G>CCA413853610COL4A5c.2998G>C (p.Gly1000Arg)
n.2454G>C
c.231G>C
c.2674G>C (p.Gly892Arg)
c.571G>C (p.Gly191Arg)
c.3013G>C (p.Gly1005Arg)
c.1333G>C (p.Gly445Arg)
Xg.108624316G=CA2450697353COL4A5c.2998G= (p.Gly1000=)
n.2454G=
c.231G=
c.2674G= (p.Gly892=)
c.571G= (p.Gly191=)
c.3013G= (p.Gly1005=)
c.1333G= (p.Gly445=)
Xg.108624316G>TCA413853613COL4A5c.2998G>T (p.Gly1000Ter)
n.2454G>T
c.231G>T
c.2674G>T (p.Gly892Ter)
c.571G>T (p.Gly191Ter)
c.3013G>T (p.Gly1005Ter)
c.1333G>T (p.Gly445Ter)
Xg.108624317G>ACA413853616COL4A5c.2999G>A (p.Gly1000Glu)
n.2455G>A
c.232G>A
c.2675G>A (p.Gly892Glu)
c.572G>A (p.Gly191Glu)
c.3014G>A (p.Gly1005Glu)
c.1334G>A (p.Gly445Glu)
 COSMIC COSMIC
Xg.108624317G>CCA413853619COL4A5c.2999G>C (p.Gly1000Ala)
n.2455G>C
c.232G>C
c.2675G>C (p.Gly892Ala)
c.572G>C (p.Gly191Ala)
c.3014G>C (p.Gly1005Ala)
c.1334G>C (p.Gly445Ala)
Xg.108624317G=CA2450697354COL4A5c.2999G= (p.Gly1000=)
n.2455G=
c.232G=
c.2675G= (p.Gly892=)
c.572G= (p.Gly191=)
c.3014G= (p.Gly1005=)
c.1334G= (p.Gly445=)
Xg.108624317G>TCA258787COL4A5c.2999G>T (p.Gly1000Val)
n.2455G>T
c.232G>T
c.2675G>T (p.Gly892Val)
c.572G>T (p.Gly191Val)
c.3014G>T (p.Gly1005Val)
c.1334G>T (p.Gly445Val)
 ClinVar dbSNP
Xg.108624318A>CCA517925116COL4A5c.3000A>C (p.Gly1000=)
n.2456A>C
c.233A>C
c.2676A>C (p.Gly892=)
c.573A>C (p.Gly191=)
c.3015A>C (p.Gly1005=)
c.1335A>C (p.Gly445=)
Xg.108624318A>GCA517925118COL4A5c.3000A>G (p.Gly1000=)
n.2456A>G
c.233A>G
c.2676A>G (p.Gly892=)
c.573A>G (p.Gly191=)
c.3015A>G (p.Gly1005=)
c.1335A>G (p.Gly445=)
 ClinVar dbSNP
Xg.108624318A>TCA517925120COL4A5c.3000A>T (p.Gly1000=)
n.2456A>T
c.233A>T
c.2676A>T (p.Gly892=)
c.573A>T (p.Gly191=)
c.3015A>T (p.Gly1005=)
c.1335A>T (p.Gly445=)
Xg.108624319T>ACA413853624COL4A5c.3001T>A (p.Leu1001Ile)
n.2457T>A
c.234T>A
c.2677T>A (p.Leu893Ile)
c.574T>A (p.Leu192Ile)
c.3016T>A (p.Leu1006Ile)
c.1336T>A (p.Leu446Ile)
Xg.108624319T>CCA10489011COL4A5c.3001T>C (p.Leu1001=)
n.2457T>C
c.234T>C
c.2677T>C (p.Leu893=)
c.574T>C (p.Leu192=)
c.3016T>C (p.Leu1006=)
c.1336T>C (p.Leu446=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108624319T>GCA413853628COL4A5c.3001T>G (p.Leu1001Val)
n.2457T>G
c.234T>G
c.2677T>G (p.Leu893Val)
c.574T>G (p.Leu192Val)
c.3016T>G (p.Leu1006Val)
c.1336T>G (p.Leu446Val)
Xg.108624319T=CA2450697355COL4A5c.3001T= (p.Leu1001=)
n.2457T=
c.234T=
c.2677T= (p.Leu893=)
c.574T= (p.Leu192=)
c.3016T= (p.Leu1006=)
c.1336T= (p.Leu446=)
Xg.108624320delCA2579676605COL4A5c.3002del (p.Leu1001TyrfsTer20)
n.2458del
c.235del
c.2678del (p.Leu893TyrfsTer20)
c.575del (p.Leu192TyrfsTer20)
c.3017del (p.Leu1006TyrfsTer20)
c.1337del (p.Leu446TyrfsTer20)
Xg.108624320T>ACA413853632COL4A5c.3002T>A (p.Leu1001Ter)
n.2458T>A
c.235T>A
c.2678T>A (p.Leu893Ter)
c.575T>A (p.Leu192Ter)
c.3017T>A (p.Leu1006Ter)
c.1337T>A (p.Leu446Ter)
 ClinVar
Xg.108624320T>CCA413853633COL4A5c.3002T>C (p.Leu1001Ser)
n.2458T>C
c.235T>C
c.2678T>C (p.Leu893Ser)
c.575T>C (p.Leu192Ser)
c.3017T>C (p.Leu1006Ser)
c.1337T>C (p.Leu446Ser)
Xg.108624320T>GCA413853636COL4A5c.3002T>G (p.Leu1001Ter)
n.2458T>G
c.235T>G
c.2678T>G (p.Leu893Ter)
c.575T>G (p.Leu192Ter)
c.3017T>G (p.Leu1006Ter)
c.1337T>G (p.Leu446Ter)
Xg.108624321delCA2551621672COL4A5c.3003del (p.Leu1001PhefsTer20)
n.2459del
c.236del
c.2679del (p.Leu893PhefsTer20)
c.576del (p.Leu192PhefsTer20)
c.3018del (p.Leu1006PhefsTer20)
c.1338del (p.Leu446PhefsTer20)
Xg.108624321A>CCA413853639COL4A5c.3003A>C (p.Leu1001Phe)
n.2459A>C
c.236A>C
c.2679A>C (p.Leu893Phe)
c.576A>C (p.Leu192Phe)
c.3018A>C (p.Leu1006Phe)
c.1338A>C (p.Leu446Phe)
Xg.108624321A>GCA517925123COL4A5c.3003A>G (p.Leu1001=)
n.2459A>G
c.236A>G
c.2679A>G (p.Leu893=)
c.576A>G (p.Leu192=)
c.3018A>G (p.Leu1006=)
c.1338A>G (p.Leu446=)
 ClinVar dbSNP
Xg.108624321A>TCA413853642COL4A5c.3003A>T (p.Leu1001Phe)
n.2459A>T
c.236A>T
c.2679A>T (p.Leu893Phe)
c.576A>T (p.Leu192Phe)
c.3018A>T (p.Leu1006Phe)
c.1338A>T (p.Leu446Phe)
Xg.108624322C>ACA413853647COL4A5c.3004C>A (p.Pro1002Thr)
n.2460C>A
c.237C>A
c.2680C>A (p.Pro894Thr)
c.577C>A (p.Pro193Thr)
c.3019C>A (p.Pro1007Thr)
c.1339C>A (p.Pro447Thr)
Xg.108624322C>GCA413853651COL4A5c.3004C>G (p.Pro1002Ala)
n.2460C>G
c.237C>G
c.2680C>G (p.Pro894Ala)
c.577C>G (p.Pro193Ala)
c.3019C>G (p.Pro1007Ala)
c.1339C>G (p.Pro447Ala)
Xg.108624322C>TCA413853653COL4A5c.3004C>T (p.Pro1002Ser)
n.2460C>T
c.237C>T
c.2680C>T (p.Pro894Ser)
c.577C>T (p.Pro193Ser)
c.3019C>T (p.Pro1007Ser)
c.1339C>T (p.Pro447Ser)
Xg.108624323C>ACA413853657COL4A5c.3005C>A (p.Pro1002Gln)
n.2461C>A
c.238C>A
c.2681C>A (p.Pro894Gln)
c.578C>A (p.Pro193Gln)
c.3020C>A (p.Pro1007Gln)
c.1340C>A (p.Pro447Gln)
Xg.108624323C>GCA413853661COL4A5c.3005C>G (p.Pro1002Arg)
n.2461C>G
c.238C>G
c.2681C>G (p.Pro894Arg)
c.578C>G (p.Pro193Arg)
c.3020C>G (p.Pro1007Arg)
c.1340C>G (p.Pro447Arg)
Xg.108624323C>TCA413853663COL4A5c.3005C>T (p.Pro1002Leu)
n.2461C>T
c.238C>T
c.2681C>T (p.Pro894Leu)
c.578C>T (p.Pro193Leu)
c.3020C>T (p.Pro1007Leu)
c.1340C>T (p.Pro447Leu)
 gnomAD v4
Xg.108624324A>CCA517925132COL4A5c.3006A>C (p.Pro1002=)
n.2462A>C
c.239A>C
c.2682A>C (p.Pro894=)
c.579A>C (p.Pro193=)
c.3021A>C (p.Pro1007=)
c.1341A>C (p.Pro447=)
Xg.108624324A>GCA517925134COL4A5c.3006A>G (p.Pro1002=)
n.2462A>G
c.239A>G
c.2682A>G (p.Pro894=)
c.579A>G (p.Pro193=)
c.3021A>G (p.Pro1007=)
c.1341A>G (p.Pro447=)
 gnomAD v4
Xg.108624324A>TCA517925137COL4A5c.3006A>T (p.Pro1002=)
n.2462A>T
c.239A>T
c.2682A>T (p.Pro894=)
c.579A>T (p.Pro193=)
c.3021A>T (p.Pro1007=)
c.1341A>T (p.Pro447=)
 gnomAD v4
Xg.108624325G>ACA413853669COL4A5c.3007G>A (p.Gly1003Arg)
n.2463G>A
c.240G>A
c.2683G>A (p.Gly895Arg)
c.580G>A (p.Gly194Arg)
c.3022G>A (p.Gly1008Arg)
c.1342G>A (p.Gly448Arg)
Xg.108624325G>CCA413853671COL4A5c.3007G>C (p.Gly1003Arg)
n.2463G>C
c.240G>C
c.2683G>C (p.Gly895Arg)
c.580G>C (p.Gly194Arg)
c.3022G>C (p.Gly1008Arg)
c.1342G>C (p.Gly448Arg)
Xg.108624325G>TCA413853673COL4A5c.3007G>T (p.Gly1003Ter)
n.2463G>T
c.240G>T
c.2683G>T (p.Gly895Ter)
c.580G>T (p.Gly194Ter)
c.3022G>T (p.Gly1008Ter)
c.1342G>T (p.Gly448Ter)
Xg.108624326G>ACA413853675COL4A5c.3008G>A (p.Gly1003Glu)
n.2464G>A
c.241G>A
c.2684G>A (p.Gly895Glu)
c.581G>A (p.Gly194Glu)
c.3023G>A (p.Gly1008Glu)
c.1343G>A (p.Gly448Glu)
Xg.108624326G>CCA413853677COL4A5c.3008G>C (p.Gly1003Ala)
n.2464G>C
c.241G>C
c.2684G>C (p.Gly895Ala)
c.581G>C (p.Gly194Ala)
c.3023G>C (p.Gly1008Ala)
c.1343G>C (p.Gly448Ala)
Xg.108624326G>TCA413853678COL4A5c.3008G>T (p.Gly1003Val)
n.2464G>T
c.241G>T
c.2684G>T (p.Gly895Val)
c.581G>T (p.Gly194Val)
c.3023G>T (p.Gly1008Val)
c.1343G>T (p.Gly448Val)
 ClinVar
Xg.108624327A>CCA517925142COL4A5c.3009A>C (p.Gly1003=)
n.2465A>C
c.242A>C
c.2685A>C (p.Gly895=)
c.582A>C (p.Gly194=)
c.3024A>C (p.Gly1008=)
c.1344A>C (p.Gly448=)
Xg.108624327A>GCA517925143COL4A5c.3009A>G (p.Gly1003=)
n.2465A>G
c.242A>G
c.2685A>G (p.Gly895=)
c.582A>G (p.Gly194=)
c.3024A>G (p.Gly1008=)
c.1344A>G (p.Gly448=)
Xg.108624327A>TCA517925144COL4A5c.3009A>T (p.Gly1003=)
n.2465A>T
c.242A>T
c.2685A>T (p.Gly895=)
c.582A>T (p.Gly194=)
c.3024A>T (p.Gly1008=)
c.1344A>T (p.Gly448=)
Xg.108624328C>ACA413853682COL4A5c.3010C>A (p.Pro1004Thr)
n.2466C>A
c.243C>A
c.2686C>A (p.Pro896Thr)
c.583C>A (p.Pro195Thr)
c.3025C>A (p.Pro1009Thr)
c.1345C>A (p.Pro449Thr)
 gnomAD v4
Xg.108624328C>GCA413853687COL4A5c.3010C>G (p.Pro1004Ala)
n.2466C>G
c.243C>G
c.2686C>G (p.Pro896Ala)
c.583C>G (p.Pro195Ala)
c.3025C>G (p.Pro1009Ala)
c.1345C>G (p.Pro449Ala)
Xg.108624328C>TCA413853684COL4A5c.3010C>T (p.Pro1004Ser)
n.2466C>T
c.243C>T
c.2686C>T (p.Pro896Ser)
c.583C>T (p.Pro195Ser)
c.3025C>T (p.Pro1009Ser)
c.1345C>T (p.Pro449Ser)
 gnomAD v4
Xg.108624329delCA2579676606COL4A5c.3011del (p.Pro1004HisfsTer17)
n.2467del
c.244del
c.2687del (p.Pro896HisfsTer17)
c.584del (p.Pro195HisfsTer17)
c.3026del (p.Pro1009HisfsTer17)
c.1346del (p.Pro449HisfsTer17)
 gnomAD v4
Xg.108624329C>ACA413853690COL4A5c.3011C>A (p.Pro1004Gln)
n.2467C>A
c.244C>A
c.2687C>A (p.Pro896Gln)
c.584C>A (p.Pro195Gln)
c.3026C>A (p.Pro1009Gln)
c.1346C>A (p.Pro449Gln)
 gnomAD v4
Xg.108624329C>GCA413853695COL4A5c.3011C>G (p.Pro1004Arg)
n.2467C>G
c.244C>G
c.2687C>G (p.Pro896Arg)
c.584C>G (p.Pro195Arg)
c.3026C>G (p.Pro1009Arg)
c.1346C>G (p.Pro449Arg)
Xg.108624329C>TCA413853693COL4A5c.3011C>T (p.Pro1004Leu)
n.2467C>T
c.244C>T
c.2687C>T (p.Pro896Leu)
c.584C>T (p.Pro195Leu)
c.3026C>T (p.Pro1009Leu)
c.1346C>T (p.Pro449Leu)
Xg.108624330A=CA2450697356COL4A5c.3012A= (p.Pro1004=)
n.2468A=
c.245A=
c.2688A= (p.Pro896=)
c.585A= (p.Pro195=)
c.3027A= (p.Pro1009=)
c.1347A= (p.Pro449=)
Xg.108624330A>CCA517925146COL4A5c.3012A>C (p.Pro1004=)
n.2468A>C
c.245A>C
c.2688A>C (p.Pro896=)
c.585A>C (p.Pro195=)
c.3027A>C (p.Pro1009=)
c.1347A>C (p.Pro449=)
 gnomAD v4
Xg.108624330A>GCA10489012COL4A5c.3012A>G (p.Pro1004=)
n.2468A>G
c.245A>G
c.2688A>G (p.Pro896=)
c.585A>G (p.Pro195=)
c.3027A>G (p.Pro1009=)
c.1347A>G (p.Pro449=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108624330A>TCA517925147COL4A5c.3012A>T (p.Pro1004=)
n.2468A>T
c.245A>T
c.2688A>T (p.Pro896=)
c.585A>T (p.Pro195=)
c.3027A>T (p.Pro1009=)
c.1347A>T (p.Pro449=)
Xg.108624331C>ACA413853699COL4A5c.3013C>A (p.Pro1005Thr)
n.2469C>A
c.246C>A
c.2689C>A (p.Pro897Thr)
c.586C>A (p.Pro196Thr)
c.3028C>A (p.Pro1010Thr)
c.1348C>A (p.Pro450Thr)
Xg.108624331C>GCA413853701COL4A5c.3013C>G (p.Pro1005Ala)
n.2469C>G
c.246C>G
c.2689C>G (p.Pro897Ala)
c.586C>G (p.Pro196Ala)
c.3028C>G (p.Pro1010Ala)
c.1348C>G (p.Pro450Ala)
Xg.108624331C>TCA413853702COL4A5c.3013C>T (p.Pro1005Ser)
n.2469C>T
c.246C>T
c.2689C>T (p.Pro897Ser)
c.586C>T (p.Pro196Ser)
c.3028C>T (p.Pro1010Ser)
c.1348C>T (p.Pro450Ser)
Xg.108624332delCA2579676607COL4A5c.3014del (p.Pro1005GlnfsTer16)
n.2470del
c.247del
c.2690del (p.Pro897GlnfsTer16)
c.587del (p.Pro196GlnfsTer16)
c.3029del (p.Pro1010GlnfsTer16)
c.1349del (p.Pro450GlnfsTer16)
Xg.108624332C>ACA413853705COL4A5c.3014C>A (p.Pro1005Gln)
n.2470C>A
c.247C>A
c.2690C>A (p.Pro897Gln)
c.587C>A (p.Pro196Gln)
c.3029C>A (p.Pro1010Gln)
c.1349C>A (p.Pro450Gln)
 gnomAD v4
Xg.108624332C>GCA413853708COL4A5c.3014C>G (p.Pro1005Arg)
n.2470C>G
c.247C>G
c.2690C>G (p.Pro897Arg)
c.587C>G (p.Pro196Arg)
c.3029C>G (p.Pro1010Arg)
c.1349C>G (p.Pro450Arg)
Xg.108624332C>TCA413853711COL4A5c.3014C>T (p.Pro1005Leu)
n.2470C>T
c.247C>T
c.2690C>T (p.Pro897Leu)
c.587C>T (p.Pro196Leu)
c.3029C>T (p.Pro1010Leu)
c.1349C>T (p.Pro450Leu)
Xg.108624333A=CA2450697357COL4A5c.3015A= (p.Pro1005=)
n.2471A=
c.248A=
c.2691A= (p.Pro897=)
c.588A= (p.Pro196=)
c.3030A= (p.Pro1010=)
c.1350A= (p.Pro450=)
Xg.108624333A>CCA517925163COL4A5c.3015A>C (p.Pro1005=)
n.2471A>C
c.248A>C
c.2691A>C (p.Pro897=)
c.588A>C (p.Pro196=)
c.3030A>C (p.Pro1010=)
c.1350A>C (p.Pro450=)
Xg.108624333A>GCA517925157COL4A5c.3015A>G (p.Pro1005=)
n.2471A>G
c.248A>G
c.2691A>G (p.Pro897=)
c.588A>G (p.Pro196=)
c.3030A>G (p.Pro1010=)
c.1350A>G (p.Pro450=)
 dbSNP gnomAD v2
Xg.108624333A>TCA517925156COL4A5c.3015A>T (p.Pro1005=)
n.2471A>T
c.248A>T
c.2691A>T (p.Pro897=)
c.588A>T (p.Pro196=)
c.3030A>T (p.Pro1010=)
c.1350A>T (p.Pro450=)
 gnomAD v4
Xg.108624334G>ACA413853714COL4A5c.3016G>A (p.Gly1006Ser)
n.2472G>A
c.249G>A
c.2692G>A (p.Gly898Ser)
c.589G>A (p.Gly197Ser)
c.3031G>A (p.Gly1011Ser)
c.1351G>A (p.Gly451Ser)
Xg.108624334G>CCA413853716COL4A5c.3016G>C (p.Gly1006Arg)
n.2472G>C
c.249G>C
c.2692G>C (p.Gly898Arg)
c.589G>C (p.Gly197Arg)
c.3031G>C (p.Gly1011Arg)
c.1351G>C (p.Gly451Arg)
Xg.108624334G>TCA413853717COL4A5c.3016G>T (p.Gly1006Cys)
n.2472G>T
c.249G>T
c.2692G>T (p.Gly898Cys)
c.589G>T (p.Gly197Cys)
c.3031G>T (p.Gly1011Cys)
c.1351G>T (p.Gly451Cys)
Xg.108624335G>ACA413854304COL4A5c.3016+1G>A (n.3016+1G>A)
n.2472+1G>A
c.249+1G>A
c.2692+1G>A (n.2692+1G>A)
c.589+1G>A (n.589+1G>A)
c.3031+1G>A (n.3031+1G>A)
c.1351+1G>A (n.1351+1G>A)
 ClinVar
Xg.108624335G>CCA413854305COL4A5c.3016+1G>C (n.3016+1G>C)
n.2472+1G>C
c.249+1G>C
c.2692+1G>C (n.2692+1G>C)
c.589+1G>C (n.589+1G>C)
c.3031+1G>C (n.3031+1G>C)
c.1351+1G>C (n.1351+1G>C)
Xg.108624335G=CA2450697358COL4A5c.3016+1G= (n.3016+1G=)
n.2472+1G=
c.249+1G=
c.2692+1G= (n.2692+1G=)
c.589+1G= (n.589+1G=)
c.3031+1G= (n.3031+1G=)
c.1351+1G= (n.1351+1G=)
Xg.108624335G>TCA258790COL4A5c.3016+1G>T (n.3016+1G>T)
n.2472+1G>T
c.249+1G>T
c.2692+1G>T (n.2692+1G>T)
c.589+1G>T (n.589+1G>T)
c.3031+1G>T (n.3031+1G>T)
c.1351+1G>T (n.1351+1G>T)
 dbSNP
Xg.108624336T>ACA413854307COL4A5c.3016+2T>A (n.3016+2T>A)
n.2472+2T>A
c.249+2T>A
c.2692+2T>A (n.2692+2T>A)
c.589+2T>A (n.589+2T>A)
c.3031+2T>A (n.3031+2T>A)
c.1351+2T>A (n.1351+2T>A)
Xg.108624336T>CCA413854312COL4A5c.3016+2T>C (n.3016+2T>C)
n.2472+2T>C
c.249+2T>C
c.2692+2T>C (n.2692+2T>C)
c.589+2T>C (n.589+2T>C)
c.3031+2T>C (n.3031+2T>C)
c.1351+2T>C (n.1351+2T>C)
 ClinVar dbSNP
Xg.108624336T>GCA413854310COL4A5c.3016+2T>G (n.3016+2T>G)
n.2472+2T>G
c.249+2T>G
c.2692+2T>G (n.2692+2T>G)
c.589+2T>G (n.589+2T>G)
c.3031+2T>G (n.3031+2T>G)
c.1351+2T>G (n.1351+2T>G)
Xg.108624337A=CA2450697359COL4A5c.3016+3A= (n.3016+3A=)
n.2472+3A=
c.249+3A=
c.2692+3A= (n.2692+3A=)
c.589+3A= (n.589+3A=)
c.3031+3A= (n.3031+3A=)
c.1351+3A= (n.1351+3A=)
Xg.108624337A>CCA869815720COL4A5c.3016+3A>C (n.3016+3A>C)
n.2472+3A>C
c.249+3A>C
c.2692+3A>C (n.2692+3A>C)
c.589+3A>C (n.589+3A>C)
c.3031+3A>C (n.3031+3A>C)
c.1351+3A>C (n.1351+3A>C)
 dbSNP
Xg.108624340T>ACA2694440386COL4A5c.3016+6T>A (n.3016+6T>A)
n.2472+6T>A
c.249+6T>A
c.2692+6T>A (n.2692+6T>A)
c.589+6T>A (n.589+6T>A)
c.3031+6T>A (n.3031+6T>A)
c.1351+6T>A (n.1351+6T>A)
 gnomAD v4
Xg.108624340T>CCA643630616COL4A5c.3016+6T>C (n.3016+6T>C)
n.2472+6T>C
c.249+6T>C
c.2692+6T>C (n.2692+6T>C)
c.589+6T>C (n.589+6T>C)
c.3031+6T>C (n.3031+6T>C)
c.1351+6T>C (n.1351+6T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108624340T=CA2450697360COL4A5c.3016+6T= (n.3016+6T=)
n.2472+6T=
c.249+6T=
c.2692+6T= (n.2692+6T=)
c.589+6T= (n.589+6T=)
c.3031+6T= (n.3031+6T=)
c.1351+6T= (n.1351+6T=)
Xg.108624341G>TCA2580100207COL4A5c.3016+7G>T (n.3016+7G>T)
n.2472+7G>T
c.249+7G>T
c.2692+7G>T (n.2692+7G>T)
c.589+7G>T (n.589+7G>T)
c.3031+7G>T (n.3031+7G>T)
c.1351+7G>T (n.1351+7G>T)
 ClinVar gnomAD v4
Xg.108624342T>CCA2579676608COL4A5c.3016+8T>C (n.3016+8T>C)
n.2472+8T>C
c.249+8T>C
c.2692+8T>C (n.2692+8T>C)
c.589+8T>C (n.589+8T>C)
c.3031+8T>C (n.3031+8T>C)
c.1351+8T>C (n.1351+8T>C)
Xg.108624344A>GCA2739273702COL4A5c.3016+10A>G (n.3016+10A>G)
n.2472+10A>G
c.249+10A>G
c.2692+10A>G (n.2692+10A>G)
c.589+10A>G (n.589+10A>G)
c.3031+10A>G (n.3031+10A>G)
c.1351+10A>G (n.1351+10A>G)
 ClinVar
Xg.108624346A>GCA2694440387COL4A5c.3016+12A>G (n.3016+12A>G)
n.2472+12A>G
c.249+12A>G
c.2692+12A>G (n.2692+12A>G)
c.589+12A>G (n.589+12A>G)
c.3031+12A>G (n.3031+12A>G)
c.1351+12A>G (n.1351+12A>G)
 gnomAD v4
Xg.108624347G>TCA2822894609COL4A5c.3016+13G>T (n.3016+13G>T)
n.2472+13G>T
c.249+13G>T
c.2692+13G>T (n.2692+13G>T)
c.589+13G>T (n.589+13G>T)
c.3031+13G>T (n.3031+13G>T)
c.1351+13G>T (n.1351+13G>T)
Xg.108624348G>ACA2694440388COL4A5c.3016+14G>A (n.3016+14G>A)
n.2472+14G>A
c.249+14G>A
c.2692+14G>A (n.2692+14G>A)
c.589+14G>A (n.589+14G>A)
c.3031+14G>A (n.3031+14G>A)
c.1351+14G>A (n.1351+14G>A)
 gnomAD v4
Xg.108624348G>CCA2450697361COL4A5c.3016+14G>C (n.3016+14G>C)
n.2472+14G>C
c.249+14G>C
c.2692+14G>C (n.2692+14G>C)
c.589+14G>C (n.589+14G>C)
c.3031+14G>C (n.3031+14G>C)
c.1351+14G>C (n.1351+14G>C)
 dbSNP gnomAD v4
Xg.108624348G=CA2450697362COL4A5c.3016+14G= (n.3016+14G=)
n.2472+14G=
c.249+14G=
c.2692+14G= (n.2692+14G=)
c.589+14G= (n.589+14G=)
c.3031+14G= (n.3031+14G=)
c.1351+14G= (n.1351+14G=)
Xg.108624349C>ACA2694440389COL4A5c.3016+15C>A (n.3016+15C>A)
n.2472+15C>A
c.249+15C>A
c.2692+15C>A (n.2692+15C>A)
c.589+15C>A (n.589+15C>A)
c.3031+15C>A (n.3031+15C>A)
c.1351+15C>A (n.1351+15C>A)
 gnomAD v4
Xg.108624349C>TCA2694440390COL4A5c.3016+15C>T (n.3016+15C>T)
n.2472+15C>T
c.249+15C>T
c.2692+15C>T (n.2692+15C>T)
c.589+15C>T (n.589+15C>T)
c.3031+15C>T (n.3031+15C>T)
c.1351+15C>T (n.1351+15C>T)
 gnomAD v4
Xg.108624350C>ACA2694440391COL4A5c.3016+16C>A (n.3016+16C>A)
n.2472+16C>A
c.249+16C>A
c.2692+16C>A (n.2692+16C>A)
c.589+16C>A (n.589+16C>A)
c.3031+16C>A (n.3031+16C>A)
c.1351+16C>A (n.1351+16C>A)
 gnomAD v4
Xg.108624351A=CA2450697363COL4A5c.3016+17A= (n.3016+17A=)
n.2472+17A=
c.249+17A=
c.2692+17A= (n.2692+17A=)
c.589+17A= (n.589+17A=)
c.3031+17A= (n.3031+17A=)
c.1351+17A= (n.1351+17A=)
Xg.108624351A>GCA2450697364COL4A5c.3016+17A>G (n.3016+17A>G)
n.2472+17A>G
c.249+17A>G
c.2692+17A>G (n.2692+17A>G)
c.589+17A>G (n.589+17A>G)
c.3031+17A>G (n.3031+17A>G)
c.1351+17A>G (n.1351+17A>G)
 dbSNP
Xg.108624355G>ACA10489013COL4A5c.3016+21G>A (n.3016+21G>A)
n.2472+21G>A
c.249+21G>A
c.2692+21G>A (n.2692+21G>A)
c.589+21G>A (n.589+21G>A)
c.3031+21G>A (n.3031+21G>A)
c.1351+21G>A (n.1351+21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108624355G=CA2450697365COL4A5c.3016+21G= (n.3016+21G=)
n.2472+21G=
c.249+21G=
c.2692+21G= (n.2692+21G=)
c.589+21G= (n.589+21G=)
c.3031+21G= (n.3031+21G=)
c.1351+21G= (n.1351+21G=)
Xg.108624356T>ACA2694440392COL4A5c.3016+22T>A (n.3016+22T>A)
n.2472+22T>A
c.249+22T>A
c.2692+22T>A (n.2692+22T>A)
c.589+22T>A (n.589+22T>A)
c.3031+22T>A (n.3031+22T>A)
c.1351+22T>A (n.1351+22T>A)
 gnomAD v4
Xg.108624357A>TCA2579676609COL4A5c.3016+23A>T (n.3016+23A>T)
n.2472+23A>T
c.249+23A>T
c.2692+23A>T (n.2692+23A>T)
c.589+23A>T (n.589+23A>T)
c.3031+23A>T (n.3031+23A>T)
c.1351+23A>T (n.1351+23A>T)
Xg.108624358G>ACA643630617COL4A5c.3016+24G>A (n.3016+24G>A)
n.2472+24G>A
c.249+24G>A
c.2692+24G>A (n.2692+24G>A)
c.589+24G>A (n.589+24G>A)
c.3031+24G>A (n.3031+24G>A)
c.1351+24G>A (n.1351+24G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108624358G>CCA2694440393COL4A5c.3016+24G>C (n.3016+24G>C)
n.2472+24G>C
c.249+24G>C
c.2692+24G>C (n.2692+24G>C)
c.589+24G>C (n.589+24G>C)
c.3031+24G>C (n.3031+24G>C)
c.1351+24G>C (n.1351+24G>C)
 gnomAD v4
Xg.108624358G=CA2450697366COL4A5c.3016+24G= (n.3016+24G=)
n.2472+24G=
c.249+24G=
c.2692+24G= (n.2692+24G=)
c.589+24G= (n.589+24G=)
c.3031+24G= (n.3031+24G=)
c.1351+24G= (n.1351+24G=)
Xg.108624359delCA2579676610COL4A5c.3016+25del (n.3016+25del)
n.2472+25del
c.249+25del
c.2692+25del (n.2692+25del)
c.589+25del (n.589+25del)
c.3031+25del (n.3031+25del)
c.1351+25del (n.1351+25del)
Xg.108624359C>ACA643630618COL4A5c.3016+25C>A (n.3016+25C>A)
n.2472+25C>A
c.249+25C>A
c.2692+25C>A (n.2692+25C>A)
c.589+25C>A (n.589+25C>A)
c.3031+25C>A (n.3031+25C>A)
c.1351+25C>A (n.1351+25C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108624359C=CA2450697367COL4A5c.3016+25C= (n.3016+25C=)
n.2472+25C=
c.249+25C=
c.2692+25C= (n.2692+25C=)
c.589+25C= (n.589+25C=)
c.3031+25C= (n.3031+25C=)
c.1351+25C= (n.1351+25C=)
Xg.108624359C>TCA2694440394COL4A5c.3016+25C>T (n.3016+25C>T)
n.2472+25C>T
c.249+25C>T
c.2692+25C>T (n.2692+25C>T)
c.589+25C>T (n.589+25C>T)
c.3031+25C>T (n.3031+25C>T)
c.1351+25C>T (n.1351+25C>T)
 gnomAD v4
Xg.108624360A=CA2450697368COL4A5c.3016+26A= (n.3016+26A=)
n.2472+26A=
c.249+26A=
c.2692+26A= (n.2692+26A=)
c.589+26A= (n.589+26A=)
c.3031+26A= (n.3031+26A=)
c.1351+26A= (n.1351+26A=)
Xg.108624360A>GCA10489014COL4A5c.3016+26A>G (n.3016+26A>G)
n.2472+26A>G
c.249+26A>G
c.2692+26A>G (n.2692+26A>G)
c.589+26A>G (n.589+26A>G)
c.3031+26A>G (n.3031+26A>G)
c.1351+26A>G (n.1351+26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108624361A=CA2450697369COL4A5c.3016+27A= (n.3016+27A=)
n.2472+27A=
c.249+27A=
c.2692+27A= (n.2692+27A=)
c.589+27A= (n.589+27A=)
c.3031+27A= (n.3031+27A=)
c.1351+27A= (n.1351+27A=)
Xg.108624361A>GCA1136179914COL4A5c.3016+27A>G (n.3016+27A>G)
n.2472+27A>G
c.249+27A>G
c.2692+27A>G (n.2692+27A>G)
c.589+27A>G (n.589+27A>G)
c.3031+27A>G (n.3031+27A>G)
c.1351+27A>G (n.1351+27A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108624363T>CCA2579676611COL4A5c.3016+29T>C (n.3016+29T>C)
n.2472+29T>C
c.249+29T>C
c.2692+29T>C (n.2692+29T>C)
c.589+29T>C (n.589+29T>C)
c.3031+29T>C (n.3031+29T>C)
c.1351+29T>C (n.1351+29T>C)
Xg.108624364G>CCA643630619COL4A5c.3016+30G>C (n.3016+30G>C)
n.2472+30G>C
c.249+30G>C
c.2692+30G>C (n.2692+30G>C)
c.589+30G>C (n.589+30G>C)
c.3031+30G>C (n.3031+30G>C)
c.1351+30G>C (n.1351+30G>C)
 dbSNP gnomAD v2
Xg.108624364G=CA2450697370COL4A5c.3016+30G= (n.3016+30G=)
n.2472+30G=
c.249+30G=
c.2692+30G= (n.2692+30G=)
c.589+30G= (n.589+30G=)
c.3031+30G= (n.3031+30G=)
c.1351+30G= (n.1351+30G=)
Xg.108624365C>ACA2694440395COL4A5c.3016+31C>A (n.3016+31C>A)
n.2472+31C>A
c.249+31C>A
c.2692+31C>A (n.2692+31C>A)
c.589+31C>A (n.589+31C>A)
c.3031+31C>A (n.3031+31C>A)
c.1351+31C>A (n.1351+31C>A)
 gnomAD v4
Xg.108624365C>TCA2694440396COL4A5c.3016+31C>T (n.3016+31C>T)
n.2472+31C>T
c.249+31C>T
c.2692+31C>T (n.2692+31C>T)
c.589+31C>T (n.589+31C>T)
c.3031+31C>T (n.3031+31C>T)
c.1351+31C>T (n.1351+31C>T)
 gnomAD v4
Xg.108624365_108624366insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGTCA2822894616COL4A5c.3016+31_3016+32insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT (n.3016+31_3016+32insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT)
n.2472+31_2472+32insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT
c.249+31_249+32insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT
c.2692+31_2692+32insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT (n.2692+31_2692+32insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT)
c.589+31_589+32insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT (n.589+31_589+32insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT)
c.3031+31_3031+32insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT (n.3031+31_3031+32insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT)
c.1351+31_1351+32insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT (n.1351+31_1351+32insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT)
Xg.108624367delCA2694440397COL4A5c.3016+33del (n.3016+33del)
n.2472+33del
c.249+33del
c.2692+33del (n.2692+33del)
c.589+33del (n.589+33del)
c.3031+33del (n.3031+33del)
c.1351+33del (n.1351+33del)
 gnomAD v4
Xg.108624367T>GCA2694440398COL4A5c.3016+33T>G (n.3016+33T>G)
n.2472+33T>G
c.249+33T>G
c.2692+33T>G (n.2692+33T>G)
c.589+33T>G (n.589+33T>G)
c.3031+33T>G (n.3031+33T>G)
c.1351+33T>G (n.1351+33T>G)
 gnomAD v4
Xg.108624369_108624370delinsGCCA2450697371COL4A5c.3016+35_3016+36delinsGC (n.3016+35_3016+36delinsGC)
n.2472+35_2472+36delinsGC
c.249+35_249+36delinsGC
c.2692+35_2692+36delinsGC (n.2692+35_2692+36delinsGC)
c.589+35_589+36delinsGC (n.589+35_589+36delinsGC)
c.3031+35_3031+36delinsGC (n.3031+35_3031+36delinsGC)
c.1351+35_1351+36delinsGC (n.1351+35_1351+36delinsGC)
Xg.108624370delCA2450697372COL4A5c.3016+36del (n.3016+36del)
n.2472+36del
c.249+36del
c.2692+36del (n.2692+36del)
c.589+36del (n.589+36del)
c.3031+36del (n.3031+36del)
c.1351+36del (n.1351+36del)
 dbSNP gnomAD v4
Xg.108624370C>ACA2694440399COL4A5c.3016+36C>A (n.3016+36C>A)
n.2472+36C>A
c.249+36C>A
c.2692+36C>A (n.2692+36C>A)
c.589+36C>A (n.589+36C>A)
c.3031+36C>A (n.3031+36C>A)
c.1351+36C>A (n.1351+36C>A)
 gnomAD v4
Xg.108624371T>ACA2579676612COL4A5c.3016+37T>A (n.3016+37T>A)
n.2472+37T>A
c.249+37T>A
c.2692+37T>A (n.2692+37T>A)
c.589+37T>A (n.589+37T>A)
c.3031+37T>A (n.3031+37T>A)
c.1351+37T>A (n.1351+37T>A)
Xg.108624372G>ACA2694440400COL4A5c.3016+38G>A (n.3016+38G>A)
n.2472+38G>A
c.249+38G>A
c.2692+38G>A (n.2692+38G>A)
c.589+38G>A (n.589+38G>A)
c.3031+38G>A (n.3031+38G>A)
c.1351+38G>A (n.1351+38G>A)
 gnomAD v4
Xg.108624372G>TCA2694440401COL4A5c.3016+38G>T (n.3016+38G>T)
n.2472+38G>T
c.249+38G>T
c.2692+38G>T (n.2692+38G>T)
c.589+38G>T (n.589+38G>T)
c.3031+38G>T (n.3031+38G>T)
c.1351+38G>T (n.1351+38G>T)
 gnomAD v4
Xg.108624374C>ACA2694440402COL4A5c.3016+40C>A (n.3016+40C>A)
n.2472+40C>A
c.249+40C>A
c.2692+40C>A (n.2692+40C>A)
c.589+40C>A (n.589+40C>A)
c.3031+40C>A (n.3031+40C>A)
c.1351+40C>A (n.1351+40C>A)
 gnomAD v4
Xg.108624374C=CA2450697373COL4A5c.3016+40C= (n.3016+40C=)
n.2472+40C=
c.249+40C=
c.2692+40C= (n.2692+40C=)
c.589+40C= (n.589+40C=)
c.3031+40C= (n.3031+40C=)
c.1351+40C= (n.1351+40C=)
Xg.108624374C>TCA10489015COL4A5c.3016+40C>T (n.3016+40C>T)
n.2472+40C>T
c.249+40C>T
c.2692+40C>T (n.2692+40C>T)
c.589+40C>T (n.589+40C>T)
c.3031+40C>T (n.3031+40C>T)
c.1351+40C>T (n.1351+40C>T)
 dbSNP ExAC gnomAD v2
Xg.108624376C>ACA2694440403COL4A5c.3016+42C>A (n.3016+42C>A)
n.2472+42C>A
c.249+42C>A
c.2692+42C>A (n.2692+42C>A)
c.589+42C>A (n.589+42C>A)
c.3031+42C>A (n.3031+42C>A)
c.1351+42C>A (n.1351+42C>A)
 gnomAD v4
Xg.108624376C=CA2450697374COL4A5c.3016+42C= (n.3016+42C=)
n.2472+42C=
c.249+42C=
c.2692+42C= (n.2692+42C=)
c.589+42C= (n.589+42C=)
c.3031+42C= (n.3031+42C=)
c.1351+42C= (n.1351+42C=)
Xg.108624376C>TCA10489016COL4A5c.3016+42C>T (n.3016+42C>T)
n.2472+42C>T
c.249+42C>T
c.2692+42C>T (n.2692+42C>T)
c.589+42C>T (n.589+42C>T)
c.3031+42C>T (n.3031+42C>T)
c.1351+42C>T (n.1351+42C>T)
 dbSNP ExAC gnomAD v2
Xg.108624376_108624377insACA2694440404COL4A5c.3016+42_3016+43insA (n.3016+42_3016+43insA)
n.2472+42_2472+43insA
c.249+42_249+43insA
c.2692+42_2692+43insA (n.2692+42_2692+43insA)
c.589+42_589+43insA (n.589+42_589+43insA)
c.3031+42_3031+43insA (n.3031+42_3031+43insA)
c.1351+42_1351+43insA (n.1351+42_1351+43insA)
 gnomAD v4
Xg.108624377T>CCA2694440405COL4A5c.3016+43T>C (n.3016+43T>C)
n.2472+43T>C
c.249+43T>C
c.2692+43T>C (n.2692+43T>C)
c.589+43T>C (n.589+43T>C)
c.3031+43T>C (n.3031+43T>C)
c.1351+43T>C (n.1351+43T>C)
 gnomAD v4
Xg.108624377_108624378insAATTATTTATCCACA2694440406COL4A5c.3016+43_3016+44insAATTATTTATCCA (n.3016+43_3016+44insAATTATTTATCCA)
n.2472+43_2472+44insAATTATTTATCCA
c.249+43_249+44insAATTATTTATCCA
c.2692+43_2692+44insAATTATTTATCCA (n.2692+43_2692+44insAATTATTTATCCA)
c.589+43_589+44insAATTATTTATCCA (n.589+43_589+44insAATTATTTATCCA)
c.3031+43_3031+44insAATTATTTATCCA (n.3031+43_3031+44insAATTATTTATCCA)
c.1351+43_1351+44insAATTATTTATCCA (n.1351+43_1351+44insAATTATTTATCCA)
 gnomAD v4
Xg.108624378G>ACA1136179919COL4A5c.3016+44G>A (n.3016+44G>A)
n.2472+44G>A
c.249+44G>A
c.2692+44G>A (n.2692+44G>A)
c.589+44G>A (n.589+44G>A)
c.3031+44G>A (n.3031+44G>A)
c.1351+44G>A (n.1351+44G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108624378G=CA2450697375COL4A5c.3016+44G= (n.3016+44G=)
n.2472+44G=
c.249+44G=
c.2692+44G= (n.2692+44G=)
c.589+44G= (n.589+44G=)
c.3031+44G= (n.3031+44G=)
c.1351+44G= (n.1351+44G=)
Xg.108624379A=CA2450697376COL4A5c.3016+45A= (n.3016+45A=)
n.2472+45A=
c.249+45A=
c.2692+45A= (n.2692+45A=)
c.589+45A= (n.589+45A=)
c.3031+45A= (n.3031+45A=)
c.1351+45A= (n.1351+45A=)
Xg.108624379A>CCA10489017COL4A5c.3016+45A>C (n.3016+45A>C)
n.2472+45A>C
c.249+45A>C
c.2692+45A>C (n.2692+45A>C)
c.589+45A>C (n.589+45A>C)
c.3031+45A>C (n.3031+45A>C)
c.1351+45A>C (n.1351+45A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108624382T>ACA869815734COL4A5c.3016+48T>A (n.3016+48T>A)
n.2472+48T>A
c.249+48T>A
c.2692+48T>A (n.2692+48T>A)
c.589+48T>A (n.589+48T>A)
c.3031+48T>A (n.3031+48T>A)
c.1351+48T>A (n.1351+48T>A)
 dbSNP
Xg.108624382T>CCA2512290835COL4A5c.3016+48T>C (n.3016+48T>C)
n.2472+48T>C
c.249+48T>C
c.2692+48T>C (n.2692+48T>C)
c.589+48T>C (n.589+48T>C)
c.3031+48T>C (n.3031+48T>C)
c.1351+48T>C (n.1351+48T>C)
Xg.108624382T=CA2450697377COL4A5c.3016+48T= (n.3016+48T=)
n.2472+48T=
c.249+48T=
c.2692+48T= (n.2692+48T=)
c.589+48T= (n.589+48T=)
c.3031+48T= (n.3031+48T=)
c.1351+48T= (n.1351+48T=)
Xg.108624383C>ACA2579676613COL4A5c.3016+49C>A (n.3016+49C>A)
n.2472+49C>A
c.249+49C>A
c.2692+49C>A (n.2692+49C>A)
c.589+49C>A (n.589+49C>A)
c.3031+49C>A (n.3031+49C>A)
c.1351+49C>A (n.1351+49C>A)
Xg.108624384T>ACA2694440407COL4A5c.3016+50T>A (n.3016+50T>A)
n.2472+50T>A
c.249+50T>A
c.2692+50T>A (n.2692+50T>A)
c.589+50T>A (n.589+50T>A)
c.3031+50T>A (n.3031+50T>A)
c.1351+50T>A (n.1351+50T>A)
 gnomAD v4
Xg.108624385G>ACA2694440408COL4A5c.3016+51G>A (n.3016+51G>A)
n.2472+51G>A
c.249+51G>A
c.2692+51G>A (n.2692+51G>A)
c.589+51G>A (n.589+51G>A)
c.3031+51G>A (n.3031+51G>A)
c.1351+51G>A (n.1351+51G>A)
 gnomAD v4
Xg.108624385G>CCA2738909979COL4A5c.3016+51G>C (n.3016+51G>C)
n.2472+51G>C
c.249+51G>C
c.2692+51G>C (n.2692+51G>C)
c.589+51G>C (n.589+51G>C)
c.3031+51G>C (n.3031+51G>C)
c.1351+51G>C (n.1351+51G>C)
 dbSNP
Xg.108624386G>TCA2694440409COL4A5c.3016+52G>T (n.3016+52G>T)
n.2472+52G>T
c.249+52G>T
c.2692+52G>T (n.2692+52G>T)
c.589+52G>T (n.589+52G>T)
c.3031+52G>T (n.3031+52G>T)
c.1351+52G>T (n.1351+52G>T)
 gnomAD v4
Xg.108624386_108624390delinsGATAACA2450697378COL4A5c.3016+52_3016+56delinsGATAA (n.3016+52_3016+56delinsGATAA)
n.2472+52_2472+56delinsGATAA
c.249+52_249+56delinsGATAA
c.2692+52_2692+56delinsGATAA (n.2692+52_2692+56delinsGATAA)
c.589+52_589+56delinsGATAA (n.589+52_589+56delinsGATAA)
c.3031+52_3031+56delinsGATAA (n.3031+52_3031+56delinsGATAA)
c.1351+52_1351+56delinsGATAA (n.1351+52_1351+56delinsGATAA)

Number of alleles fetched