Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108624275_108624293delinsTGCCTGGAGACCCAGGGCA | CA2450697337 | COL4A5 | c.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=) | |
X | g.108624276_108624293del | CA658799838 | COL4A5 | c.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 |
X | g.108624276_108624294delinsGCCTGGAGACCCAGGGCAA | CA2450697340 | COL4A5 | c.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=) | |
X | g.108624283_108624300del | CA258783 | COL4A5 | c.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 |
X | g.108624284_108624301dup | CA2694440385 | COL4A5 | c.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 |
X | g.108624289G>A | CA413853418 | COL4A5 | c.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) | |
X | g.108624289G>C | CA413853419 | COL4A5 | c.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) | |
X | g.108624289G>T | CA413853421 | COL4A5 | c.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) | |
X | g.108624290G>A | CA413853424 | COL4A5 | c.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 |
X | g.108624290G>C | CA413853425 | COL4A5 | c.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) | |
X | g.108624290G>T | CA413853431 | COL4A5 | c.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) | |
X | g.108624291G>A | CA517925047 | COL4A5 | c.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=) | |
X | g.108624291G>C | CA517925045 | COL4A5 | c.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=) | |
X | g.108624291G>T | CA517925046 | COL4A5 | c.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=) | |
X | g.108624292C>A | CA413853435 | COL4A5 | c.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) | |
X | g.108624292C>G | CA413853439 | COL4A5 | c.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) | |
X | g.108624292C>T | CA413853436 | COL4A5 | c.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 |
X | g.108624292_108624299delinsCAACCTGG | CA2450697344 | COL4A5 | c.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=) | |
X | g.108624293A>C | CA413853443 | COL4A5 | c.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) | |
X | g.108624293A>G | CA413853449 | COL4A5 | c.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) | |
X | g.108624293A>T | CA413853454 | COL4A5 | c.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) | |
X | g.108624294_108624300del | CA891843948 | COL4A5 | c.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) | |
X | g.108624294A>C | CA413853458 | COL4A5 | c.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) | |
X | g.108624294A>G | CA517925049 | COL4A5 | c.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=) | |
X | g.108624294A>T | CA413853461 | COL4A5 | c.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) | |
X | g.108624295C>A | CA413853464 | COL4A5 | c.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) | |
X | g.108624295C>G | CA413853467 | COL4A5 | c.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) | |
X | g.108624295C>T | CA413853470 | COL4A5 | c.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) | |
X | g.108624296C>A | CA413853473 | COL4A5 | c.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) | |
X | g.108624296C>G | CA413853477 | COL4A5 | c.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) | |
X | g.108624296C>T | CA413853480 | COL4A5 | c.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) | |
X | g.108624297T>A | CA517925053 | COL4A5 | c.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=) | |
X | g.108624297T>C | CA517925054 | COL4A5 | c.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=) | |
X | g.108624297T>G | CA10489006 | COL4A5 | c.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 |
X | g.108624297T= | CA2450697345 | COL4A5 | c.2979T= (p.Pro993=) n.2435T= c.212T= c.2655T= (p.Pro885=) c.552T= (p.Pro184=) c.2994T= (p.Pro998=) c.1314T= (p.Pro438=) | |
X | g.108624298G>A | CA413853489 | COL4A5 | c.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 |
X | g.108624298G>C | CA413853485 | COL4A5 | c.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) | |
X | g.108624298G>T | CA413853492 | COL4A5 | c.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) | |
X | g.108624299G>A | CA413853495 | COL4A5 | c.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) | |
X | g.108624299G>C | CA413853497 | COL4A5 | c.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 |
X | g.108624299G>T | CA413853500 | COL4A5 | c.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) | |
X | g.108624300A= | CA2450697346 | COL4A5 | c.2982A= (p.Gly994=) n.2438A= c.215A= c.2658A= (p.Gly886=) c.555A= (p.Gly185=) c.2997A= (p.Gly999=) c.1317A= (p.Gly439=) | |
X | g.108624300A>C | CA517925069 | COL4A5 | c.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=) | |
X | g.108624300A>G | CA517925071 | COL4A5 | c.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 |
X | g.108624300A>T | CA517925066 | COL4A5 | c.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=) | |
X | g.108624301C>A | CA10489007 | COL4A5 | c.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 |
X | g.108624301C= | CA2450697347 | COL4A5 | c.2983C= (p.Leu995=) n.2439C= c.216C= c.2659C= (p.Leu887=) c.556C= (p.Leu186=) c.2998C= (p.Leu1000=) c.1318C= (p.Leu440=) | |
X | g.108624301C>G | CA413853504 | COL4A5 | c.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) | |
X | g.108624301C>T | CA517925073 | COL4A5 | c.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=) | |
X | g.108624302T>A | CA413853515 | COL4A5 | c.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) | |
X | g.108624302T>C | CA413853518 | COL4A5 | c.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 |
X | g.108624302T>G | CA413853521 | COL4A5 | c.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) | |
X | g.108624303G>A | CA517925079 | COL4A5 | c.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=) | |
X | g.108624303G>C | CA517925081 | COL4A5 | c.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=) | |
X | g.108624303G>T | CA517925084 | COL4A5 | c.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=) | |
X | g.108624304A>C | CA413853524 | COL4A5 | c.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) | |
X | g.108624304A>G | CA413853531 | COL4A5 | c.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) | |
X | g.108624304A>T | CA413853534 | COL4A5 | c.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) | |
X | g.108624305G>A | CA10489008 | COL4A5 | c.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 |
X | g.108624305G>C | CA413853539 | COL4A5 | c.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) | |
X | g.108624305G= | CA2450697348 | COL4A5 | c.2987G= (p.Ser996=) n.2443G= c.220G= c.2663G= (p.Ser888=) c.560G= (p.Ser187=) c.3002G= (p.Ser1001=) c.1322G= (p.Ser441=) | |
X | g.108624305G>T | CA413853541 | COL4A5 | c.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 |
X | g.108624306T>A | CA413853547 | COL4A5 | c.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) | |
X | g.108624306T>C | CA517925091 | COL4A5 | c.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 |
X | g.108624306T>G | CA413853544 | COL4A5 | c.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 |
X | g.108624306T= | CA2450697349 | COL4A5 | c.2988T= (p.Ser996=) n.2444T= c.221T= c.2664T= (p.Ser888=) c.561T= (p.Ser187=) c.3003T= (p.Ser1001=) c.1323T= (p.Ser441=) | |
X | g.108624307G>A | CA413853551 | COL4A5 | c.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) | |
X | g.108624307G>C | CA413853553 | COL4A5 | c.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) | |
X | g.108624307G>T | CA413853558 | COL4A5 | c.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) | |
X | g.108624308G>A | CA413853561 | COL4A5 | c.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) | |
X | g.108624308G>C | CA413853564 | COL4A5 | c.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) | |
X | g.108624308G>T | CA413853567 | COL4A5 | c.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) | |
X | g.108624308_108624309insGCAACCTGGACTGAGTGT | CA2695235750 | COL4A5 | c.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) | |
X | g.108624309A>C | CA517925101 | COL4A5 | c.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=) | |
X | g.108624309A>G | CA517925102 | COL4A5 | c.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=) | |
X | g.108624309A>T | CA517925103 | COL4A5 | c.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=) | |
X | g.108624310C>A | CA10489009 | COL4A5 | c.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 |
X | g.108624310C= | CA2450697350 | COL4A5 | c.2992C= (p.Gln998=) n.2448C= c.225C= c.2668C= (p.Gln890=) c.565C= (p.Gln189=) c.3007C= (p.Gln1003=) c.1327C= (p.Gln443=) | |
X | g.108624310C>G | CA413853569 | COL4A5 | c.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) | |
X | g.108624310C>T | CA413853572 | COL4A5 | c.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 |
X | g.108624311A>C | CA413853577 | COL4A5 | c.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) | |
X | g.108624311A>G | CA413853580 | COL4A5 | c.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) | |
X | g.108624311A>T | CA413853583 | COL4A5 | c.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) | |
X | g.108624312A>C | CA413853586 | COL4A5 | c.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) | |
X | g.108624312A>G | CA517925107 | COL4A5 | c.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=) | |
X | g.108624312A>T | CA413853589 | COL4A5 | c.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 |
X | g.108624313C>A | CA413853597 | COL4A5 | c.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 |
X | g.108624313C>G | CA413853592 | COL4A5 | c.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) | |
X | g.108624313C>T | CA413853595 | COL4A5 | c.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) | |
X | g.108624313_108624315del | CA2579676604 | COL4A5 | c.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) | |
X | g.108624314C>A | CA10489010 | COL4A5 | c.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 |
X | g.108624314C= | CA2450697351 | COL4A5 | c.2996C= (p.Pro999=) n.2452C= c.229C= c.2672C= (p.Pro891=) c.569C= (p.Pro190=) c.3011C= (p.Pro1004=) c.1331C= (p.Pro444=) | |
X | g.108624314C>G | CA413853605 | COL4A5 | c.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) | |
X | g.108624314C>T | CA413853602 | COL4A5 | c.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 |
X | g.108624315T>A | CA517925109 | COL4A5 | c.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 |
X | g.108624315T>C | CA517925110 | COL4A5 | c.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=) | |
X | g.108624315T>G | CA517925112 | COL4A5 | c.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=) | |
X | g.108624315T= | CA2450697352 | COL4A5 | c.2997T= (p.Pro999=) n.2453T= c.230T= c.2673T= (p.Pro891=) c.570T= (p.Pro190=) c.3012T= (p.Pro1004=) c.1332T= (p.Pro444=) | |
X | g.108624316G>A | CA413853607 | COL4A5 | c.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 |
X | g.108624316G>C | CA413853610 | COL4A5 | c.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) | |
X | g.108624316G= | CA2450697353 | COL4A5 | c.2998G= (p.Gly1000=) n.2454G= c.231G= c.2674G= (p.Gly892=) c.571G= (p.Gly191=) c.3013G= (p.Gly1005=) c.1333G= (p.Gly445=) | |
X | g.108624316G>T | CA413853613 | COL4A5 | c.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) | |
X | g.108624317G>A | CA413853616 | COL4A5 | c.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 |
X | g.108624317G>C | CA413853619 | COL4A5 | c.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) | |
X | g.108624317G= | CA2450697354 | COL4A5 | c.2999G= (p.Gly1000=) n.2455G= c.232G= c.2675G= (p.Gly892=) c.572G= (p.Gly191=) c.3014G= (p.Gly1005=) c.1334G= (p.Gly445=) | |
X | g.108624317G>T | CA258787 | COL4A5 | c.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 |
X | g.108624318A>C | CA517925116 | COL4A5 | c.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=) | |
X | g.108624318A>G | CA517925118 | COL4A5 | c.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 |
X | g.108624318A>T | CA517925120 | COL4A5 | c.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=) | |
X | g.108624319T>A | CA413853624 | COL4A5 | c.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) | |
X | g.108624319T>C | CA10489011 | COL4A5 | c.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 |
X | g.108624319T>G | CA413853628 | COL4A5 | c.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) | |
X | g.108624319T= | CA2450697355 | COL4A5 | c.3001T= (p.Leu1001=) n.2457T= c.234T= c.2677T= (p.Leu893=) c.574T= (p.Leu192=) c.3016T= (p.Leu1006=) c.1336T= (p.Leu446=) | |
X | g.108624320del | CA2579676605 | COL4A5 | c.3002del (p.Leu1001TyrfsTer20) n.2458del c.235del c.2678del (p.Leu893TyrfsTer20) c.575del (p.Leu192TyrfsTer20) c.3017del (p.Leu1006TyrfsTer20) c.1337del (p.Leu446TyrfsTer20) | |
X | g.108624320T>A | CA413853632 | COL4A5 | c.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 |
X | g.108624320T>C | CA413853633 | COL4A5 | c.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) | |
X | g.108624320T>G | CA413853636 | COL4A5 | c.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) | |
X | g.108624321del | CA2551621672 | COL4A5 | c.3003del (p.Leu1001PhefsTer20) n.2459del c.236del c.2679del (p.Leu893PhefsTer20) c.576del (p.Leu192PhefsTer20) c.3018del (p.Leu1006PhefsTer20) c.1338del (p.Leu446PhefsTer20) | |
X | g.108624321A>C | CA413853639 | COL4A5 | c.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) | |
X | g.108624321A>G | CA517925123 | COL4A5 | c.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 |
X | g.108624321A>T | CA413853642 | COL4A5 | c.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) | |
X | g.108624322C>A | CA413853647 | COL4A5 | c.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) | |
X | g.108624322C>G | CA413853651 | COL4A5 | c.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) | |
X | g.108624322C>T | CA413853653 | COL4A5 | c.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) | |
X | g.108624323C>A | CA413853657 | COL4A5 | c.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) | |
X | g.108624323C>G | CA413853661 | COL4A5 | c.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) | |
X | g.108624323C>T | CA413853663 | COL4A5 | c.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 |
X | g.108624324A>C | CA517925132 | COL4A5 | c.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=) | |
X | g.108624324A>G | CA517925134 | COL4A5 | c.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 |
X | g.108624324A>T | CA517925137 | COL4A5 | c.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 |
X | g.108624325G>A | CA413853669 | COL4A5 | c.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) | |
X | g.108624325G>C | CA413853671 | COL4A5 | c.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) | |
X | g.108624325G>T | CA413853673 | COL4A5 | c.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) | |
X | g.108624326G>A | CA413853675 | COL4A5 | c.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) | |
X | g.108624326G>C | CA413853677 | COL4A5 | c.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) | |
X | g.108624326G>T | CA413853678 | COL4A5 | c.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 |
X | g.108624327A>C | CA517925142 | COL4A5 | c.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=) | |
X | g.108624327A>G | CA517925143 | COL4A5 | c.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=) | |
X | g.108624327A>T | CA517925144 | COL4A5 | c.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=) | |
X | g.108624328C>A | CA413853682 | COL4A5 | c.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 |
X | g.108624328C>G | CA413853687 | COL4A5 | c.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) | |
X | g.108624328C>T | CA413853684 | COL4A5 | c.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 |
X | g.108624329del | CA2579676606 | COL4A5 | c.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 |
X | g.108624329C>A | CA413853690 | COL4A5 | c.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 |
X | g.108624329C>G | CA413853695 | COL4A5 | c.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) | |
X | g.108624329C>T | CA413853693 | COL4A5 | c.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) | |
X | g.108624330A= | CA2450697356 | COL4A5 | c.3012A= (p.Pro1004=) n.2468A= c.245A= c.2688A= (p.Pro896=) c.585A= (p.Pro195=) c.3027A= (p.Pro1009=) c.1347A= (p.Pro449=) | |
X | g.108624330A>C | CA517925146 | COL4A5 | c.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 |
X | g.108624330A>G | CA10489012 | COL4A5 | c.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 |
X | g.108624330A>T | CA517925147 | COL4A5 | c.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=) | |
X | g.108624331C>A | CA413853699 | COL4A5 | c.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) | |
X | g.108624331C>G | CA413853701 | COL4A5 | c.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) | |
X | g.108624331C>T | CA413853702 | COL4A5 | c.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) | |
X | g.108624332del | CA2579676607 | COL4A5 | c.3014del (p.Pro1005GlnfsTer16) n.2470del c.247del c.2690del (p.Pro897GlnfsTer16) c.587del (p.Pro196GlnfsTer16) c.3029del (p.Pro1010GlnfsTer16) c.1349del (p.Pro450GlnfsTer16) | |
X | g.108624332C>A | CA413853705 | COL4A5 | c.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 |
X | g.108624332C>G | CA413853708 | COL4A5 | c.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) | |
X | g.108624332C>T | CA413853711 | COL4A5 | c.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) | |
X | g.108624333A= | CA2450697357 | COL4A5 | c.3015A= (p.Pro1005=) n.2471A= c.248A= c.2691A= (p.Pro897=) c.588A= (p.Pro196=) c.3030A= (p.Pro1010=) c.1350A= (p.Pro450=) | |
X | g.108624333A>C | CA517925163 | COL4A5 | c.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=) | |
X | g.108624333A>G | CA517925157 | COL4A5 | c.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 |
X | g.108624333A>T | CA517925156 | COL4A5 | c.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 |
X | g.108624334G>A | CA413853714 | COL4A5 | c.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) | |
X | g.108624334G>C | CA413853716 | COL4A5 | c.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) | |
X | g.108624334G>T | CA413853717 | COL4A5 | c.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) | |
X | g.108624335G>A | CA413854304 | COL4A5 | c.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 |
X | g.108624335G>C | CA413854305 | COL4A5 | c.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) | |
X | g.108624335G= | CA2450697358 | COL4A5 | c.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=) | |
X | g.108624335G>T | CA258790 | COL4A5 | c.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 |
X | g.108624336T>A | CA413854307 | COL4A5 | c.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) | |
X | g.108624336T>C | CA413854312 | COL4A5 | c.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 |
X | g.108624336T>G | CA413854310 | COL4A5 | c.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) | |
X | g.108624337A= | CA2450697359 | COL4A5 | c.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=) | |
X | g.108624337A>C | CA869815720 | COL4A5 | c.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 |
X | g.108624340T>A | CA2694440386 | COL4A5 | c.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 |
X | g.108624340T>C | CA643630616 | COL4A5 | c.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 |
X | g.108624340T= | CA2450697360 | COL4A5 | c.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=) | |
X | g.108624341G>T | CA2580100207 | COL4A5 | c.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 |
X | g.108624342T>C | CA2579676608 | COL4A5 | c.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) | |
X | g.108624344A>G | CA2739273702 | COL4A5 | c.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 |
X | g.108624346A>G | CA2694440387 | COL4A5 | c.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 |
X | g.108624347G>T | CA2822894609 | COL4A5 | c.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) | |
X | g.108624348G>A | CA2694440388 | COL4A5 | c.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 |
X | g.108624348G>C | CA2450697361 | COL4A5 | c.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 |
X | g.108624348G= | CA2450697362 | COL4A5 | c.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=) | |
X | g.108624349C>A | CA2694440389 | COL4A5 | c.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 |
X | g.108624349C>T | CA2694440390 | COL4A5 | c.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 |
X | g.108624350C>A | CA2694440391 | COL4A5 | c.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 |
X | g.108624351A= | CA2450697363 | COL4A5 | c.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=) | |
X | g.108624351A>G | CA2450697364 | COL4A5 | c.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 |
X | g.108624355G>A | CA10489013 | COL4A5 | c.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 |
X | g.108624355G= | CA2450697365 | COL4A5 | c.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=) | |
X | g.108624356T>A | CA2694440392 | COL4A5 | c.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 |
X | g.108624357A>T | CA2579676609 | COL4A5 | c.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) | |
X | g.108624358G>A | CA643630617 | COL4A5 | c.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 |
X | g.108624358G>C | CA2694440393 | COL4A5 | c.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 |
X | g.108624358G= | CA2450697366 | COL4A5 | c.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=) | |
X | g.108624359del | CA2579676610 | COL4A5 | c.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) | |
X | g.108624359C>A | CA643630618 | COL4A5 | c.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 |
X | g.108624359C= | CA2450697367 | COL4A5 | c.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=) | |
X | g.108624359C>T | CA2694440394 | COL4A5 | c.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 |
X | g.108624360A= | CA2450697368 | COL4A5 | c.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=) | |
X | g.108624360A>G | CA10489014 | COL4A5 | c.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 |
X | g.108624361A= | CA2450697369 | COL4A5 | c.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=) | |
X | g.108624361A>G | CA1136179914 | COL4A5 | c.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 |
X | g.108624363T>C | CA2579676611 | COL4A5 | c.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) | |
X | g.108624364G>C | CA643630619 | COL4A5 | c.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 |
X | g.108624364G= | CA2450697370 | COL4A5 | c.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=) | |
X | g.108624365C>A | CA2694440395 | COL4A5 | c.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 |
X | g.108624365C>T | CA2694440396 | COL4A5 | c.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 |
X | g.108624365_108624366insACCATTGGCGCCATCAGTAATGATGAGTGTCTTGACGTAAGGCGAGAGGCGCGCAAGCAATTCCTCCAGAATCTCTCCTTGGACCAGCTGT | CA2822894616 | COL4A5 | c.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) | |
X | g.108624367del | CA2694440397 | COL4A5 | c.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 |
X | g.108624367T>G | CA2694440398 | COL4A5 | c.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 |
X | g.108624369_108624370delinsGC | CA2450697371 | COL4A5 | c.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) | |
X | g.108624370del | CA2450697372 | COL4A5 | c.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 |
X | g.108624370C>A | CA2694440399 | COL4A5 | c.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 |
X | g.108624371T>A | CA2579676612 | COL4A5 | c.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) | |
X | g.108624372G>A | CA2694440400 | COL4A5 | c.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 |
X | g.108624372G>T | CA2694440401 | COL4A5 | c.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 |
X | g.108624374C>A | CA2694440402 | COL4A5 | c.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 |
X | g.108624374C= | CA2450697373 | COL4A5 | c.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=) | |
X | g.108624374C>T | CA10489015 | COL4A5 | c.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 |
X | g.108624376C>A | CA2694440403 | COL4A5 | c.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 |
X | g.108624376C= | CA2450697374 | COL4A5 | c.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=) | |
X | g.108624376C>T | CA10489016 | COL4A5 | c.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 |
X | g.108624376_108624377insA | CA2694440404 | COL4A5 | c.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 |
X | g.108624377T>C | CA2694440405 | COL4A5 | c.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 |
X | g.108624377_108624378insAATTATTTATCCA | CA2694440406 | COL4A5 | c.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 |
X | g.108624378G>A | CA1136179919 | COL4A5 | c.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 |
X | g.108624378G= | CA2450697375 | COL4A5 | c.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=) | |
X | g.108624379A= | CA2450697376 | COL4A5 | c.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=) | |
X | g.108624379A>C | CA10489017 | COL4A5 | c.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 |
X | g.108624382T>A | CA869815734 | COL4A5 | c.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 |
X | g.108624382T>C | CA2512290835 | COL4A5 | c.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) | |
X | g.108624382T= | CA2450697377 | COL4A5 | c.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=) | |
X | g.108624383C>A | CA2579676613 | COL4A5 | c.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) | |
X | g.108624384T>A | CA2694440407 | COL4A5 | c.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 |
X | g.108624385G>A | CA2694440408 | COL4A5 | c.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 |
X | g.108624385G>C | CA2738909979 | COL4A5 | c.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 |
X | g.108624386G>T | CA2694440409 | COL4A5 | c.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 |
X | g.108624386_108624390delinsGATAA | CA2450697378 | COL4A5 | c.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) | |
X | g.108624387A>C | CA2694440410 | COL4A5 | c.3016+53A>C (n.3016+53A>C) n.2472+53A>C c.249+53A>C c.2692+53A>C (n.2692+53A>C) c.589+53A>C (n.589+53A>C) c.3031+53A>C (n.3031+53A>C) c.1351+53A>C (n.1351+53A>C) | gnomAD v4 |
X | g.108624391_108624394del | CA2450697379 | COL4A5 | c.3016+57_3016+60del (n.3016+57_3016+60del) n.2472+57_2472+60del c.249+57_249+60del c.2692+57_2692+60del (n.2692+57_2692+60del) c.589+57_589+60del (n.589+57_589+60del) c.3031+57_3031+60del (n.3031+57_3031+60del) c.1351+57_1351+60del (n.1351+57_1351+60del) | dbSNP |
X | g.108624388T>G | CA2694440411 | COL4A5 | c.3016+54T>G (n.3016+54T>G) n.2472+54T>G c.249+54T>G c.2692+54T>G (n.2692+54T>G) c.589+54T>G (n.589+54T>G) c.3031+54T>G (n.3031+54T>G) c.1351+54T>G (n.1351+54T>G) | gnomAD v4 |
X | g.108624389A>G | CA2579676614 | COL4A5 | c.3016+55A>G (n.3016+55A>G) n.2472+55A>G c.249+55A>G c.2692+55A>G (n.2692+55A>G) c.589+55A>G (n.589+55A>G) c.3031+55A>G (n.3031+55A>G) c.1351+55A>G (n.1351+55A>G) |