| 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.108624282_108624283delinsAG | CA2450697343 | COL4A5 | c.2964_2965delinsAG (p.Gly988=) n.2420_2421delinsAG c.197_198delinsAG c.2640_2641delinsAG (p.Gly880=) c.537_538delinsAG (p.Gly179=) c.2979_2980delinsAG (p.Gly993=) c.1299_1300delinsAG (p.Gly433=) | |
| X | g.108624283del | CA258786 | COL4A5 | c.2965del (p.Asp989ThrfsTer7) n.2421del c.198del c.2641del (p.Asp881ThrfsTer7) c.538del (p.Asp180ThrfsTer7) c.2980del (p.Asp994ThrfsTer7) c.1300del (p.Asp434ThrfsTer7) | dbSNP |
| X | g.108624283G>A | CA413853386 | COL4A5 | c.2965G>A (p.Asp989Asn) n.2421G>A c.198G>A c.2641G>A (p.Asp881Asn) c.538G>A (p.Asp180Asn) c.2980G>A (p.Asp994Asn) c.1300G>A (p.Asp434Asn) | |
| X | g.108624283G>C | CA413853387 | COL4A5 | c.2965G>C (p.Asp989His) n.2421G>C c.198G>C c.2641G>C (p.Asp881His) c.538G>C (p.Asp180His) c.2980G>C (p.Asp994His) c.1300G>C (p.Asp434His) | |
| X | g.108624283G= | CA2580701032 | COL4A5 | c.2965G= (p.Asp989=) n.2421G= c.198G= c.2641G= (p.Asp881=) c.538G= (p.Asp180=) c.2980G= (p.Asp994=) c.1300G= (p.Asp434=) | |
| X | g.108624283G>T | CA413853388 | COL4A5 | c.2965G>T (p.Asp989Tyr) n.2421G>T c.198G>T c.2641G>T (p.Asp881Tyr) c.538G>T (p.Asp180Tyr) c.2980G>T (p.Asp994Tyr) c.1300G>T (p.Asp434Tyr) | |
| X | g.108624283_108624286delinsCTGAGTGCCCAGT | CA2695235749 | COL4A5 | c.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) | |
| X | g.108624284A>C | CA413853389 | COL4A5 | c.2966A>C (p.Asp989Ala) n.2422A>C c.199A>C c.2642A>C (p.Asp881Ala) c.539A>C (p.Asp180Ala) c.2981A>C (p.Asp994Ala) c.1301A>C (p.Asp434Ala) | |
| X | g.108624284A>G | CA413853394 | COL4A5 | c.2966A>G (p.Asp989Gly) n.2422A>G c.199A>G c.2642A>G (p.Asp881Gly) c.539A>G (p.Asp180Gly) c.2981A>G (p.Asp994Gly) c.1301A>G (p.Asp434Gly) | |
| X | g.108624284A>T | CA413853391 | COL4A5 | c.2966A>T (p.Asp989Val) n.2422A>T c.199A>T c.2642A>T (p.Asp881Val) c.539A>T (p.Asp180Val) c.2981A>T (p.Asp994Val) c.1301A>T (p.Asp434Val) | |
| 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.108624285C>A | CA413853397 | COL4A5 | c.2967C>A (p.Asp989Glu) n.2423C>A c.200C>A c.2643C>A (p.Asp881Glu) c.540C>A (p.Asp180Glu) c.2982C>A (p.Asp994Glu) c.1302C>A (p.Asp434Glu) | |
| X | g.108624285C>G | CA413853399 | COL4A5 | c.2967C>G (p.Asp989Glu) n.2423C>G c.200C>G c.2643C>G (p.Asp881Glu) c.540C>G (p.Asp180Glu) c.2982C>G (p.Asp994Glu) c.1302C>G (p.Asp434Glu) | |
| X | g.108624285C>T | CA517925024 | COL4A5 | c.2967C>T (p.Asp989=) n.2423C>T c.200C>T c.2643C>T (p.Asp881=) c.540C>T (p.Asp180=) c.2982C>T (p.Asp994=) c.1302C>T (p.Asp434=) | gnomAD v4 |
| X | g.108624286C>A | CA413853402 | COL4A5 | c.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 |
| X | g.108624286C>G | CA413853406 | COL4A5 | c.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) | |
| X | g.108624286C>T | CA413853407 | COL4A5 | c.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 |
| X | g.108624287C>A | CA413853415 | COL4A5 | c.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) | |
| X | g.108624287C>G | CA413853413 | COL4A5 | c.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) | |
| X | g.108624287C>T | CA413853410 | COL4A5 | c.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) | |
| X | g.108624288A>C | CA517925035 | COL4A5 | c.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=) | |
| X | g.108624288A>G | CA517925036 | COL4A5 | c.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=) | |
| X | g.108624288A>T | CA517925037 | COL4A5 | c.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=) | |
| 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) |