Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108620334_108620406delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGCCA2450695956COL4A5c.2585_2657delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg862=)
n.2041_2113delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC
c.2261_2333delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg754=)
c.158_230delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg53=)
c.2600_2672delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg867=)
c.920_992delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg307=)
Xg.108620338_108620409delCA891843942COL4A5c.2589_2660del (p.Ser864_Gly887del)
n.2045_2116del
c.2265_2336del (p.Ser756_Gly779del)
c.162_233del (p.Ser55_Gly78del)
c.2604_2675del (p.Ser869_Gly892del)
c.924_995del (p.Ser309_Gly332del)
Xg.108620385_108620420delCA2695235219COL4A5c.2636_2671del (p.Ser879_Gly890del)
n.2092_2127del
c.2312_2347del (p.Ser771_Gly782del)
c.209_244del (p.Ser70_Gly81del)
c.2651_2686del (p.Ser884_Gly895del)
c.971_1006del (p.Ser324_Gly335del)
Xg.108620382G>ACA413851575COL4A5c.2633G>A (p.Gly878Glu)
n.2089G>A
c.2309G>A (p.Gly770Glu)
c.206G>A (p.Gly69Glu)
c.2648G>A (p.Gly883Glu)
c.968G>A (p.Gly323Glu)
 ClinVar dbSNP COSMIC
Xg.108620382G>CCA413851577COL4A5c.2633G>C (p.Gly878Ala)
n.2089G>C
c.2309G>C (p.Gly770Ala)
c.206G>C (p.Gly69Ala)
c.2648G>C (p.Gly883Ala)
c.968G>C (p.Gly323Ala)
Xg.108620382G=CA2450695983COL4A5c.2633G= (p.Gly878=)
n.2089G=
c.2309G= (p.Gly770=)
c.206G= (p.Gly69=)
c.2648G= (p.Gly883=)
c.968G= (p.Gly323=)
Xg.108620382G>TCA258728COL4A5c.2633G>T (p.Gly878Val)
n.2089G>T
c.2309G>T (p.Gly770Val)
c.206G>T (p.Gly69Val)
c.2648G>T (p.Gly883Val)
c.968G>T (p.Gly323Val)
 dbSNP
Xg.108620383A>CCA517924205COL4A5c.2634A>C (p.Gly878=)
n.2090A>C
c.2310A>C (p.Gly770=)
c.207A>C (p.Gly69=)
c.2649A>C (p.Gly883=)
c.969A>C (p.Gly323=)
Xg.108620383A>GCA517924206COL4A5c.2634A>G (p.Gly878=)
n.2090A>G
c.2310A>G (p.Gly770=)
c.207A>G (p.Gly69=)
c.2649A>G (p.Gly883=)
c.969A>G (p.Gly323=)
Xg.108620383A>TCA517924208COL4A5c.2634A>T (p.Gly878=)
n.2090A>T
c.2310A>T (p.Gly770=)
c.207A>T (p.Gly69=)
c.2649A>T (p.Gly883=)
c.969A>T (p.Gly323=)
Xg.108620384T>ACA413851583COL4A5c.2635T>A (p.Ser879Thr)
n.2091T>A
c.2311T>A (p.Ser771Thr)
c.208T>A (p.Ser70Thr)
c.2650T>A (p.Ser884Thr)
c.970T>A (p.Ser324Thr)
Xg.108620384T>CCA413851584COL4A5c.2635T>C (p.Ser879Pro)
n.2091T>C
c.2311T>C (p.Ser771Pro)
c.208T>C (p.Ser70Pro)
c.2650T>C (p.Ser884Pro)
c.970T>C (p.Ser324Pro)
Xg.108620384T>GCA413851581COL4A5c.2635T>G (p.Ser879Ala)
n.2091T>G
c.2311T>G (p.Ser771Ala)
c.208T>G (p.Ser70Ala)
c.2650T>G (p.Ser884Ala)
c.970T>G (p.Ser324Ala)
Xg.108620385C>ACA413851589COL4A5c.2636C>A (p.Ser879Ter)
n.2092C>A
c.2312C>A (p.Ser771Ter)
c.209C>A (p.Ser70Ter)
c.2651C>A (p.Ser884Ter)
c.971C>A (p.Ser324Ter)
Xg.108620385C>GCA413851586COL4A5c.2636C>G (p.Ser879Ter)
n.2092C>G
c.2312C>G (p.Ser771Ter)
c.209C>G (p.Ser70Ter)
c.2651C>G (p.Ser884Ter)
c.971C>G (p.Ser324Ter)
Xg.108620385C>TCA413851588COL4A5c.2636C>T (p.Ser879Leu)
n.2092C>T
c.2312C>T (p.Ser771Leu)
c.209C>T (p.Ser70Leu)
c.2651C>T (p.Ser884Leu)
c.971C>T (p.Ser324Leu)
 gnomAD v4 COSMIC COSMIC
Xg.108620386_108620387delCA2580100192COL4A5c.2637_2638del (p.Pro880ArgfsTer17)
n.2093_2094del
c.2313_2314del (p.Pro772ArgfsTer17)
c.210_211del (p.Pro71ArgfsTer17)
c.2652_2653del (p.Pro885ArgfsTer17)
c.972_973del (p.Pro325ArgfsTer17)
 ClinVar
Xg.108620386A>CCA517924215COL4A5c.2637A>C (p.Ser879=)
n.2093A>C
c.2313A>C (p.Ser771=)
c.210A>C (p.Ser70=)
c.2652A>C (p.Ser884=)
c.972A>C (p.Ser324=)
Xg.108620386A>GCA517924217COL4A5c.2637A>G (p.Ser879=)
n.2093A>G
c.2313A>G (p.Ser771=)
c.210A>G (p.Ser70=)
c.2652A>G (p.Ser884=)
c.972A>G (p.Ser324=)
 gnomAD v4
Xg.108620386A>TCA517924216COL4A5c.2637A>T (p.Ser879=)
n.2093A>T
c.2313A>T (p.Ser771=)
c.210A>T (p.Ser70=)
c.2652A>T (p.Ser884=)
c.972A>T (p.Ser324=)
Xg.108620387C>ACA413851591COL4A5c.2638C>A (p.Pro880Thr)
n.2094C>A
c.2314C>A (p.Pro772Thr)
c.211C>A (p.Pro71Thr)
c.2653C>A (p.Pro885Thr)
c.973C>A (p.Pro325Thr)
 dbSNP
Xg.108620387C=CA2450695984COL4A5c.2638C= (p.Pro880=)
n.2094C=
c.2314C= (p.Pro772=)
c.211C= (p.Pro71=)
c.2653C= (p.Pro885=)
c.973C= (p.Pro325=)
Xg.108620387C>GCA413851592COL4A5c.2638C>G (p.Pro880Ala)
n.2094C>G
c.2314C>G (p.Pro772Ala)
c.211C>G (p.Pro71Ala)
c.2653C>G (p.Pro885Ala)
c.973C>G (p.Pro325Ala)
 gnomAD v4
Xg.108620387C>TCA413851594COL4A5c.2638C>T (p.Pro880Ser)
n.2094C>T
c.2314C>T (p.Pro772Ser)
c.211C>T (p.Pro71Ser)
c.2653C>T (p.Pro885Ser)
c.973C>T (p.Pro325Ser)
Xg.108620388C>ACA413851597COL4A5c.2639C>A (p.Pro880Gln)
n.2095C>A
c.2315C>A (p.Pro772Gln)
c.212C>A (p.Pro71Gln)
c.2654C>A (p.Pro885Gln)
c.974C>A (p.Pro325Gln)
Xg.108620388C>GCA413851598COL4A5c.2639C>G (p.Pro880Arg)
n.2095C>G
c.2315C>G (p.Pro772Arg)
c.212C>G (p.Pro71Arg)
c.2654C>G (p.Pro885Arg)
c.974C>G (p.Pro325Arg)
 gnomAD v4
Xg.108620388C>TCA413851600COL4A5c.2639C>T (p.Pro880Leu)
n.2095C>T
c.2315C>T (p.Pro772Leu)
c.212C>T (p.Pro71Leu)
c.2654C>T (p.Pro885Leu)
c.974C>T (p.Pro325Leu)
Xg.108620389A=CA2450695985COL4A5c.2640A= (p.Pro880=)
n.2096A=
c.2316A= (p.Pro772=)
c.213A= (p.Pro71=)
c.2655A= (p.Pro885=)
c.975A= (p.Pro325=)
Xg.108620389A>CCA517924220COL4A5c.2640A>C (p.Pro880=)
n.2096A>C
c.2316A>C (p.Pro772=)
c.213A>C (p.Pro71=)
c.2655A>C (p.Pro885=)
c.975A>C (p.Pro325=)
 ClinVar dbSNP
Xg.108620389A>GCA517924219COL4A5c.2640A>G (p.Pro880=)
n.2096A>G
c.2316A>G (p.Pro772=)
c.213A>G (p.Pro71=)
c.2655A>G (p.Pro885=)
c.975A>G (p.Pro325=)
Xg.108620389A>TCA10488954COL4A5c.2640A>T (p.Pro880=)
n.2096A>T
c.2316A>T (p.Pro772=)
c.213A>T (p.Pro71=)
c.2655A>T (p.Pro885=)
c.975A>T (p.Pro325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108620389_108620390delinsAGCA2450695986COL4A5c.2640_2641delinsAG (p.Pro880=)
n.2096_2097delinsAG
c.2316_2317delinsAG (p.Pro772=)
c.213_214delinsAG (p.Pro71=)
c.2655_2656delinsAG (p.Pro885=)
c.975_976delinsAG (p.Pro325=)
Xg.108620390G>ACA413851603COL4A5c.2641G>A (p.Gly881Arg)
n.2097G>A
c.2317G>A (p.Gly773Arg)
c.214G>A (p.Gly72Arg)
c.2656G>A (p.Gly886Arg)
c.976G>A (p.Gly326Arg)
 ClinVar
Xg.108620390G>CCA413851605COL4A5c.2641G>C (p.Gly881Arg)
n.2097G>C
c.2317G>C (p.Gly773Arg)
c.214G>C (p.Gly72Arg)
c.2656G>C (p.Gly886Arg)
c.976G>C (p.Gly326Arg)
Xg.108620390G>TCA413851607COL4A5c.2641G>T (p.Gly881Trp)
n.2097G>T
c.2317G>T (p.Gly773Trp)
c.214G>T (p.Gly72Trp)
c.2656G>T (p.Gly886Trp)
c.976G>T (p.Gly326Trp)
Xg.108620392delCA258719COL4A5c.2643del (p.Leu882PhefsTer19)
n.2099del
c.2319del (p.Leu774PhefsTer19)
c.216del (p.Leu73PhefsTer19)
c.2658del (p.Leu887PhefsTer19)
c.978del (p.Leu327PhefsTer19)
 dbSNP
Xg.108620391G>ACA413851614COL4A5c.2642G>A (p.Gly881Glu)
n.2098G>A
c.2318G>A (p.Gly773Glu)
c.215G>A (p.Gly72Glu)
c.2657G>A (p.Gly886Glu)
c.977G>A (p.Gly326Glu)
Xg.108620391G>CCA413851612COL4A5c.2642G>C (p.Gly881Ala)
n.2098G>C
c.2318G>C (p.Gly773Ala)
c.215G>C (p.Gly72Ala)
c.2657G>C (p.Gly886Ala)
c.977G>C (p.Gly326Ala)
Xg.108620391G=CA2450695987COL4A5c.2642G= (p.Gly881=)
n.2098G=
c.2318G= (p.Gly773=)
c.215G= (p.Gly72=)
c.2657G= (p.Gly886=)
c.977G= (p.Gly326=)
Xg.108620391G>TCA413851610COL4A5c.2642G>T (p.Gly881Val)
n.2098G>T
c.2318G>T (p.Gly773Val)
c.215G>T (p.Gly72Val)
c.2657G>T (p.Gly886Val)
c.977G>T (p.Gly326Val)
 ClinVar dbSNP
Xg.108620392G>ACA517924229COL4A5c.2643G>A (p.Gly881=)
n.2099G>A
c.2319G>A (p.Gly773=)
c.216G>A (p.Gly72=)
c.2658G>A (p.Gly886=)
c.978G>A (p.Gly326=)
 ClinVar dbSNP gnomAD v4
Xg.108620392G>CCA517924227COL4A5c.2643G>C (p.Gly881=)
n.2099G>C
c.2319G>C (p.Gly773=)
c.216G>C (p.Gly72=)
c.2658G>C (p.Gly886=)
c.978G>C (p.Gly326=)
Xg.108620392G>TCA517924228COL4A5c.2643G>T (p.Gly881=)
n.2099G>T
c.2319G>T (p.Gly773=)
c.216G>T (p.Gly72=)
c.2658G>T (p.Gly886=)
c.978G>T (p.Gly326=)
Xg.108620393C>ACA413851616COL4A5c.2644C>A (p.Leu882Ile)
n.2100C>A
c.2320C>A (p.Leu774Ile)
c.217C>A (p.Leu73Ile)
c.2659C>A (p.Leu887Ile)
c.979C>A (p.Leu327Ile)
 gnomAD v4
Xg.108620393C=CA2450695988COL4A5c.2644C= (p.Leu882=)
n.2100C=
c.2320C= (p.Leu774=)
c.217C= (p.Leu73=)
c.2659C= (p.Leu887=)
c.979C= (p.Leu327=)
Xg.108620393C>GCA413851618COL4A5c.2644C>G (p.Leu882Val)
n.2100C>G
c.2320C>G (p.Leu774Val)
c.217C>G (p.Leu73Val)
c.2659C>G (p.Leu887Val)
c.979C>G (p.Leu327Val)
Xg.108620393C>TCA413851620COL4A5c.2644C>T (p.Leu882Phe)
n.2100C>T
c.2320C>T (p.Leu774Phe)
c.217C>T (p.Leu73Phe)
c.2659C>T (p.Leu887Phe)
c.979C>T (p.Leu327Phe)
 dbSNP gnomAD v4
Xg.108620394T>ACA413851622COL4A5c.2645T>A (p.Leu882His)
n.2101T>A
c.2321T>A (p.Leu774His)
c.218T>A (p.Leu73His)
c.2660T>A (p.Leu887His)
c.980T>A (p.Leu327His)
Xg.108620394T>CCA413851624COL4A5c.2645T>C (p.Leu882Pro)
n.2101T>C
c.2321T>C (p.Leu774Pro)
c.218T>C (p.Leu73Pro)
c.2660T>C (p.Leu887Pro)
c.980T>C (p.Leu327Pro)
Xg.108620394T>GCA413851626COL4A5c.2645T>G (p.Leu882Arg)
n.2101T>G
c.2321T>G (p.Leu774Arg)
c.218T>G (p.Leu73Arg)
c.2660T>G (p.Leu887Arg)
c.980T>G (p.Leu327Arg)
Xg.108620395T>ACA517924233COL4A5c.2646T>A (p.Leu882=)
n.2102T>A
c.2322T>A (p.Leu774=)
c.219T>A (p.Leu73=)
c.2661T>A (p.Leu887=)
c.981T>A (p.Leu327=)
Xg.108620395T>CCA517924234COL4A5c.2646T>C (p.Leu882=)
n.2102T>C
c.2322T>C (p.Leu774=)
c.219T>C (p.Leu73=)
c.2661T>C (p.Leu887=)
c.981T>C (p.Leu327=)
Xg.108620395T>GCA517924235COL4A5c.2646T>G (p.Leu882=)
n.2102T>G
c.2322T>G (p.Leu774=)
c.219T>G (p.Leu73=)
c.2661T>G (p.Leu887=)
c.981T>G (p.Leu327=)
Xg.108620396C>ACA413851628COL4A5c.2647C>A (p.Pro883Thr)
n.2103C>A
c.2323C>A (p.Pro775Thr)
c.220C>A (p.Pro74Thr)
c.2662C>A (p.Pro888Thr)
c.982C>A (p.Pro328Thr)
Xg.108620396C>GCA413851630COL4A5c.2647C>G (p.Pro883Ala)
n.2103C>G
c.2323C>G (p.Pro775Ala)
c.220C>G (p.Pro74Ala)
c.2662C>G (p.Pro888Ala)
c.982C>G (p.Pro328Ala)
Xg.108620396C>TCA413851632COL4A5c.2647C>T (p.Pro883Ser)
n.2103C>T
c.2323C>T (p.Pro775Ser)
c.220C>T (p.Pro74Ser)
c.2662C>T (p.Pro888Ser)
c.982C>T (p.Pro328Ser)
Xg.108620397C>ACA413851634COL4A5c.2648C>A (p.Pro883Gln)
n.2104C>A
c.2324C>A (p.Pro775Gln)
c.221C>A (p.Pro74Gln)
c.2663C>A (p.Pro888Gln)
c.983C>A (p.Pro328Gln)
Xg.108620397C>GCA413851635COL4A5c.2648C>G (p.Pro883Arg)
n.2104C>G
c.2324C>G (p.Pro775Arg)
c.221C>G (p.Pro74Arg)
c.2663C>G (p.Pro888Arg)
c.983C>G (p.Pro328Arg)
Xg.108620397C>TCA413851636COL4A5c.2648C>T (p.Pro883Leu)
n.2104C>T
c.2324C>T (p.Pro775Leu)
c.221C>T (p.Pro74Leu)
c.2663C>T (p.Pro888Leu)
c.983C>T (p.Pro328Leu)
Xg.108620398A>CCA517924236COL4A5c.2649A>C (p.Pro883=)
n.2105A>C
c.2325A>C (p.Pro775=)
c.222A>C (p.Pro74=)
c.2664A>C (p.Pro888=)
c.984A>C (p.Pro328=)
Xg.108620398A>GCA517924237COL4A5c.2649A>G (p.Pro883=)
n.2105A>G
c.2325A>G (p.Pro775=)
c.222A>G (p.Pro74=)
c.2664A>G (p.Pro888=)
c.984A>G (p.Pro328=)
Xg.108620398A>TCA517924238COL4A5c.2649A>T (p.Pro883=)
n.2105A>T
c.2325A>T (p.Pro775=)
c.222A>T (p.Pro74=)
c.2664A>T (p.Pro888=)
c.984A>T (p.Pro328=)
Xg.108620399G>ACA413851642COL4A5c.2650G>A (p.Gly884Arg)
n.2106G>A
c.2326G>A (p.Gly776Arg)
c.223G>A (p.Gly75Arg)
c.2665G>A (p.Gly889Arg)
c.985G>A (p.Gly329Arg)
Xg.108620399G>CCA413851640COL4A5c.2650G>C (p.Gly884Arg)
n.2106G>C
c.2326G>C (p.Gly776Arg)
c.223G>C (p.Gly75Arg)
c.2665G>C (p.Gly889Arg)
c.985G>C (p.Gly329Arg)
Xg.108620399G>TCA413851638COL4A5c.2650G>T (p.Gly884Ter)
n.2106G>T
c.2326G>T (p.Gly776Ter)
c.223G>T (p.Gly75Ter)
c.2665G>T (p.Gly889Ter)
c.985G>T (p.Gly329Ter)
Xg.108620400G>ACA413851644COL4A5c.2651G>A (p.Gly884Glu)
n.2107G>A
c.2327G>A (p.Gly776Glu)
c.224G>A (p.Gly75Glu)
c.2666G>A (p.Gly889Glu)
c.986G>A (p.Gly329Glu)
Xg.108620400G>CCA413851648COL4A5c.2651G>C (p.Gly884Ala)
n.2107G>C
c.2327G>C (p.Gly776Ala)
c.224G>C (p.Gly75Ala)
c.2666G>C (p.Gly889Ala)
c.986G>C (p.Gly329Ala)
 dbSNP
Xg.108620400G>TCA413851646COL4A5c.2651G>T (p.Gly884Val)
n.2107G>T
c.2327G>T (p.Gly776Val)
c.224G>T (p.Gly75Val)
c.2666G>T (p.Gly889Val)
c.986G>T (p.Gly329Val)
Xg.108620401A>CCA517924241COL4A5c.2652A>C (p.Gly884=)
n.2108A>C
c.2328A>C (p.Gly776=)
c.225A>C (p.Gly75=)
c.2667A>C (p.Gly889=)
c.987A>C (p.Gly329=)
Xg.108620401A>GCA517924242COL4A5c.2652A>G (p.Gly884=)
n.2108A>G
c.2328A>G (p.Gly776=)
c.225A>G (p.Gly75=)
c.2667A>G (p.Gly889=)
c.987A>G (p.Gly329=)
Xg.108620401A>TCA517924243COL4A5c.2652A>T (p.Gly884=)
n.2108A>T
c.2328A>T (p.Gly776=)
c.225A>T (p.Gly75=)
c.2667A>T (p.Gly889=)
c.987A>T (p.Gly329=)
Xg.108620404dupCA2573159088COL4A5c.2655dup (p.Ala886SerfsTer12)
n.2111dup
c.2331dup (p.Ala778SerfsTer12)
c.228dup (p.Ala77SerfsTer12)
c.2670dup (p.Ala891SerfsTer12)
c.990dup (p.Ala331SerfsTer12)
 ClinVar dbSNP
Xg.108620402A=CA2450695989COL4A5c.2653A= (p.Lys885=)
n.2109A=
c.2329A= (p.Lys777=)
c.226A= (p.Lys76=)
c.2668A= (p.Lys890=)
c.988A= (p.Lys330=)
Xg.108620402A>CCA413851650COL4A5c.2653A>C (p.Lys885Gln)
n.2109A>C
c.2329A>C (p.Lys777Gln)
c.226A>C (p.Lys76Gln)
c.2668A>C (p.Lys890Gln)
c.988A>C (p.Lys330Gln)
Xg.108620402A>GCA413851651COL4A5c.2653A>G (p.Lys885Glu)
n.2109A>G
c.2329A>G (p.Lys777Glu)
c.226A>G (p.Lys76Glu)
c.2668A>G (p.Lys890Glu)
c.988A>G (p.Lys330Glu)
Xg.108620402A>TCA413851653COL4A5c.2653A>T (p.Lys885Ter)
n.2109A>T
c.2329A>T (p.Lys777Ter)
c.226A>T (p.Lys76Ter)
c.2668A>T (p.Lys890Ter)
c.988A>T (p.Lys330Ter)
 ClinVar dbSNP COSMIC COSMIC
Xg.108620403A>CCA413851655COL4A5c.2654A>C (p.Lys885Thr)
n.2110A>C
c.2330A>C (p.Lys777Thr)
c.227A>C (p.Lys76Thr)
c.2669A>C (p.Lys890Thr)
c.989A>C (p.Lys330Thr)
Xg.108620403A>GCA413851657COL4A5c.2654A>G (p.Lys885Arg)
n.2110A>G
c.2330A>G (p.Lys777Arg)
c.227A>G (p.Lys76Arg)
c.2669A>G (p.Lys890Arg)
c.989A>G (p.Lys330Arg)
Xg.108620403A>TCA413851659COL4A5c.2654A>T (p.Lys885Ile)
n.2110A>T
c.2330A>T (p.Lys777Ile)
c.227A>T (p.Lys76Ile)
c.2669A>T (p.Lys890Ile)
c.989A>T (p.Lys330Ile)
Xg.108620404A>CCA413851661COL4A5c.2655A>C (p.Lys885Asn)
n.2111A>C
c.2331A>C (p.Lys777Asn)
c.228A>C (p.Lys76Asn)
c.2670A>C (p.Lys890Asn)
c.990A>C (p.Lys330Asn)
Xg.108620404A>GCA517924246COL4A5c.2655A>G (p.Lys885=)
n.2111A>G
c.2331A>G (p.Lys777=)
c.228A>G (p.Lys76=)
c.2670A>G (p.Lys890=)
c.990A>G (p.Lys330=)
Xg.108620404A>TCA413851664COL4A5c.2655A>T (p.Lys885Asn)
n.2111A>T
c.2331A>T (p.Lys777Asn)
c.228A>T (p.Lys76Asn)
c.2670A>T (p.Lys890Asn)
c.990A>T (p.Lys330Asn)
Xg.108620405G>ACA413851666COL4A5c.2656G>A (p.Ala886Thr)
n.2112G>A
c.2332G>A (p.Ala778Thr)
c.229G>A (p.Ala77Thr)
c.2671G>A (p.Ala891Thr)
c.991G>A (p.Ala331Thr)
Xg.108620405G>CCA413851668COL4A5c.2656G>C (p.Ala886Pro)
n.2112G>C
c.2332G>C (p.Ala778Pro)
c.229G>C (p.Ala77Pro)
c.2671G>C (p.Ala891Pro)
c.991G>C (p.Ala331Pro)
Xg.108620405G>TCA413851670COL4A5c.2656G>T (p.Ala886Ser)
n.2112G>T
c.2332G>T (p.Ala778Ser)
c.229G>T (p.Ala77Ser)
c.2671G>T (p.Ala891Ser)
c.991G>T (p.Ala331Ser)
Xg.108620406C>ACA413851675COL4A5c.2657C>A (p.Ala886Glu)
n.2113C>A
c.2333C>A (p.Ala778Glu)
c.230C>A (p.Ala77Glu)
c.2672C>A (p.Ala891Glu)
c.992C>A (p.Ala331Glu)
Xg.108620406C=CA2450695990COL4A5c.2657C= (p.Ala886=)
n.2113C=
c.2333C= (p.Ala778=)
c.230C= (p.Ala77=)
c.2672C= (p.Ala891=)
c.992C= (p.Ala331=)
Xg.108620406C>GCA10488955COL4A5c.2657C>G (p.Ala886Gly)
n.2113C>G
c.2333C>G (p.Ala778Gly)
c.230C>G (p.Ala77Gly)
c.2672C>G (p.Ala891Gly)
c.992C>G (p.Ala331Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620406C>TCA413851672COL4A5c.2657C>T (p.Ala886Val)
n.2113C>T
c.2333C>T (p.Ala778Val)
c.230C>T (p.Ala77Val)
c.2672C>T (p.Ala891Val)
c.992C>T (p.Ala331Val)
Xg.108620407delCA2557888608COL4A5c.2658del (p.Gly887ValfsTer14)
n.2114del
c.2334del (p.Gly779ValfsTer14)
c.231del (p.Gly78ValfsTer14)
c.2673del (p.Gly892ValfsTer14)
c.993del (p.Gly332ValfsTer14)
Xg.108620407A=CA2450695991COL4A5c.2658A= (p.Ala886=)
n.2114A=
c.2334A= (p.Ala778=)
c.231A= (p.Ala77=)
c.2673A= (p.Ala891=)
c.993A= (p.Ala331=)
Xg.108620407A>CCA517924249COL4A5c.2658A>C (p.Ala886=)
n.2114A>C
c.2334A>C (p.Ala778=)
c.231A>C (p.Ala77=)
c.2673A>C (p.Ala891=)
c.993A>C (p.Ala331=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108620407A>GCA517924247COL4A5c.2658A>G (p.Ala886=)
n.2114A>G
c.2334A>G (p.Ala778=)
c.231A>G (p.Ala77=)
c.2673A>G (p.Ala891=)
c.993A>G (p.Ala331=)
 dbSNP
Xg.108620407A>TCA517924248COL4A5c.2658A>T (p.Ala886=)
n.2114A>T
c.2334A>T (p.Ala778=)
c.231A>T (p.Ala77=)
c.2673A>T (p.Ala891=)
c.993A>T (p.Ala331=)
Xg.108620408G>ACA413851677COL4A5c.2659G>A (p.Gly887Ser)
n.2115G>A
c.2335G>A (p.Gly779Ser)
c.232G>A (p.Gly78Ser)
c.2674G>A (p.Gly892Ser)
c.994G>A (p.Gly332Ser)
 ClinVar dbSNP
Xg.108620408G>CCA258731COL4A5c.2659G>C (p.Gly887Arg)
n.2115G>C
c.2335G>C (p.Gly779Arg)
c.232G>C (p.Gly78Arg)
c.2674G>C (p.Gly892Arg)
c.994G>C (p.Gly332Arg)
 dbSNP
Xg.108620408G=CA2450695992COL4A5c.2659G= (p.Gly887=)
n.2115G=
c.2335G= (p.Gly779=)
c.232G= (p.Gly78=)
c.2674G= (p.Gly892=)
c.994G= (p.Gly332=)
Xg.108620408G>TCA413851681COL4A5c.2659G>T (p.Gly887Cys)
n.2115G>T
c.2335G>T (p.Gly779Cys)
c.232G>T (p.Gly78Cys)
c.2674G>T (p.Gly892Cys)
c.994G>T (p.Gly332Cys)
Xg.108620409G>ACA413851683COL4A5c.2660G>A (p.Gly887Asp)
n.2116G>A
c.2336G>A (p.Gly779Asp)
c.233G>A (p.Gly78Asp)
c.2675G>A (p.Gly892Asp)
c.995G>A (p.Gly332Asp)
 ClinVar dbSNP
Xg.108620409G>CCA413851685COL4A5c.2660G>C (p.Gly887Ala)
n.2116G>C
c.2336G>C (p.Gly779Ala)
c.233G>C (p.Gly78Ala)
c.2675G>C (p.Gly892Ala)
c.995G>C (p.Gly332Ala)
Xg.108620409G=CA2450695993COL4A5c.2660G= (p.Gly887=)
n.2116G=
c.2336G= (p.Gly779=)
c.233G= (p.Gly78=)
c.2675G= (p.Gly892=)
c.995G= (p.Gly332=)
Xg.108620409G>TCA258734COL4A5c.2660G>T (p.Gly887Val)
n.2116G>T
c.2336G>T (p.Gly779Val)
c.233G>T (p.Gly78Val)
c.2675G>T (p.Gly892Val)
c.995G>T (p.Gly332Val)
 ClinVar dbSNP
Xg.108620410T>ACA517924252COL4A5c.2661T>A (p.Gly887=)
n.2117T>A
c.2337T>A (p.Gly779=)
c.234T>A (p.Gly78=)
c.2676T>A (p.Gly892=)
c.996T>A (p.Gly332=)
Xg.108620410T>CCA517924251COL4A5c.2661T>C (p.Gly887=)
n.2117T>C
c.2337T>C (p.Gly779=)
c.234T>C (p.Gly78=)
c.2676T>C (p.Gly892=)
c.996T>C (p.Gly332=)
Xg.108620410T>GCA517924250COL4A5c.2661T>G (p.Gly887=)
n.2117T>G
c.2337T>G (p.Gly779=)
c.234T>G (p.Gly78=)
c.2676T>G (p.Gly892=)
c.996T>G (p.Gly332=)
Xg.108620411G>ACA10488956COL4A5c.2662G>A (p.Ala888Thr)
n.2118G>A
c.2338G>A (p.Ala780Thr)
c.235G>A (p.Ala79Thr)
c.2677G>A (p.Ala893Thr)
c.997G>A (p.Ala333Thr)
 dbSNP ExAC gnomAD v2
Xg.108620411G>CCA413851689COL4A5c.2662G>C (p.Ala888Pro)
n.2118G>C
c.2338G>C (p.Ala780Pro)
c.235G>C (p.Ala79Pro)
c.2677G>C (p.Ala893Pro)
c.997G>C (p.Ala333Pro)
Xg.108620411G=CA2450695994COL4A5c.2662G= (p.Ala888=)
n.2118G=
c.2338G= (p.Ala780=)
c.235G= (p.Ala79=)
c.2677G= (p.Ala893=)
c.997G= (p.Ala333=)
Xg.108620411G>TCA413851691COL4A5c.2662G>T (p.Ala888Ser)
n.2118G>T
c.2338G>T (p.Ala780Ser)
c.235G>T (p.Ala79Ser)
c.2677G>T (p.Ala893Ser)
c.997G>T (p.Ala333Ser)
 gnomAD v4
Xg.108620412C>ACA413851693COL4A5c.2663C>A (p.Ala888Asp)
n.2119C>A
c.2339C>A (p.Ala780Asp)
c.236C>A (p.Ala79Asp)
c.2678C>A (p.Ala893Asp)
c.998C>A (p.Ala333Asp)
Xg.108620412C>GCA413851695COL4A5c.2663C>G (p.Ala888Gly)
n.2119C>G
c.2339C>G (p.Ala780Gly)
c.236C>G (p.Ala79Gly)
c.2678C>G (p.Ala893Gly)
c.998C>G (p.Ala333Gly)
Xg.108620412C>TCA413851696COL4A5c.2663C>T (p.Ala888Val)
n.2119C>T
c.2339C>T (p.Ala780Val)
c.236C>T (p.Ala79Val)
c.2678C>T (p.Ala893Val)
c.998C>T (p.Ala333Val)
Xg.108620413C>ACA517924253COL4A5c.2664C>A (p.Ala888=)
n.2120C>A
c.2340C>A (p.Ala780=)
c.237C>A (p.Ala79=)
c.2679C>A (p.Ala893=)
c.999C>A (p.Ala333=)
 gnomAD v4
Xg.108620413C>GCA517924256COL4A5c.2664C>G (p.Ala888=)
n.2120C>G
c.2340C>G (p.Ala780=)
c.237C>G (p.Ala79=)
c.2679C>G (p.Ala893=)
c.999C>G (p.Ala333=)
Xg.108620413C>TCA517924255COL4A5c.2664C>T (p.Ala888=)
n.2120C>T
c.2340C>T (p.Ala780=)
c.237C>T (p.Ala79=)
c.2679C>T (p.Ala893=)
c.999C>T (p.Ala333=)
 ClinVar gnomAD v4
Xg.108620415_108620416delCA2579676517COL4A5c.2666_2667del (p.Ser889TrpfsTer8)
n.2122_2123del
c.2342_2343del (p.Ser781TrpfsTer8)
c.239_240del (p.Ser80TrpfsTer8)
c.2681_2682del (p.Ser894TrpfsTer8)
c.1001_1002del (p.Ser334TrpfsTer8)
Xg.108620414T>ACA413851702COL4A5c.2665T>A (p.Ser889Thr)
n.2121T>A
c.2341T>A (p.Ser781Thr)
c.238T>A (p.Ser80Thr)
c.2680T>A (p.Ser894Thr)
c.1000T>A (p.Ser334Thr)
Xg.108620414T>CCA413851700COL4A5c.2665T>C (p.Ser889Pro)
n.2121T>C
c.2341T>C (p.Ser781Pro)
c.238T>C (p.Ser80Pro)
c.2680T>C (p.Ser894Pro)
c.1000T>C (p.Ser334Pro)
 COSMIC COSMIC
Xg.108620414T>GCA413851698COL4A5c.2665T>G (p.Ser889Ala)
n.2121T>G
c.2341T>G (p.Ser781Ala)
c.238T>G (p.Ser80Ala)
c.2680T>G (p.Ser894Ala)
c.1000T>G (p.Ser334Ala)
Xg.108620415C>ACA413851704COL4A5c.2666C>A (p.Ser889Tyr)
n.2122C>A
c.2342C>A (p.Ser781Tyr)
c.239C>A (p.Ser80Tyr)
c.2681C>A (p.Ser894Tyr)
c.1001C>A (p.Ser334Tyr)
Xg.108620415C=CA2450695995COL4A5c.2666C= (p.Ser889=)
n.2122C=
c.2342C= (p.Ser781=)
c.239C= (p.Ser80=)
c.2681C= (p.Ser894=)
c.1001C= (p.Ser334=)
Xg.108620415C>GCA10488957COL4A5c.2666C>G (p.Ser889Cys)
n.2122C>G
c.2342C>G (p.Ser781Cys)
c.239C>G (p.Ser80Cys)
c.2681C>G (p.Ser894Cys)
c.1001C>G (p.Ser334Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620415C>TCA413851706COL4A5c.2666C>T (p.Ser889Phe)
n.2122C>T
c.2342C>T (p.Ser781Phe)
c.239C>T (p.Ser80Phe)
c.2681C>T (p.Ser894Phe)
c.1001C>T (p.Ser334Phe)
Xg.108620416T>ACA517924259COL4A5c.2667T>A (p.Ser889=)
n.2123T>A
c.2343T>A (p.Ser781=)
c.240T>A (p.Ser80=)
c.2682T>A (p.Ser894=)
c.1002T>A (p.Ser334=)
Xg.108620416T>CCA517924261COL4A5c.2667T>C (p.Ser889=)
n.2123T>C
c.2343T>C (p.Ser781=)
c.240T>C (p.Ser80=)
c.2682T>C (p.Ser894=)
c.1002T>C (p.Ser334=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108620416T>GCA517924262COL4A5c.2667T>G (p.Ser889=)
n.2123T>G
c.2343T>G (p.Ser781=)
c.240T>G (p.Ser80=)
c.2682T>G (p.Ser894=)
c.1002T>G (p.Ser334=)
Xg.108620416T=CA2450695996COL4A5c.2667T= (p.Ser889=)
n.2123T=
c.2343T= (p.Ser781=)
c.240T= (p.Ser80=)
c.2682T= (p.Ser894=)
c.1002T= (p.Ser334=)
Xg.108620417G>ACA413851709COL4A5c.2668G>A (p.Gly890Arg)
n.2124G>A
c.2344G>A (p.Gly782Arg)
c.241G>A (p.Gly81Arg)
c.2683G>A (p.Gly895Arg)
c.1003G>A (p.Gly335Arg)
 ClinVar dbSNP
Xg.108620417G>CCA413851713COL4A5c.2668G>C (p.Gly890Arg)
n.2124G>C
c.2344G>C (p.Gly782Arg)
c.241G>C (p.Gly81Arg)
c.2683G>C (p.Gly895Arg)
c.1003G>C (p.Gly335Arg)
Xg.108620417G=CA2450695997COL4A5c.2668G= (p.Gly890=)
n.2124G=
c.2344G= (p.Gly782=)
c.241G= (p.Gly81=)
c.2683G= (p.Gly895=)
c.1003G= (p.Gly335=)
Xg.108620417G>TCA413851711COL4A5c.2668G>T (p.Gly890Ter)
n.2124G>T
c.2344G>T (p.Gly782Ter)
c.241G>T (p.Gly81Ter)
c.2683G>T (p.Gly895Ter)
c.1003G>T (p.Gly335Ter)
 ClinVar
Xg.108620418G>ACA413851715COL4A5c.2669G>A (p.Gly890Glu)
n.2125G>A
c.2345G>A (p.Gly782Glu)
c.242G>A (p.Gly81Glu)
c.2684G>A (p.Gly895Glu)
c.1004G>A (p.Gly335Glu)
Xg.108620418G>CCA413851717COL4A5c.2669G>C (p.Gly890Ala)
n.2125G>C
c.2345G>C (p.Gly782Ala)
c.242G>C (p.Gly81Ala)
c.2684G>C (p.Gly895Ala)
c.1004G>C (p.Gly335Ala)
Xg.108620418G>TCA413851719COL4A5c.2669G>T (p.Gly890Val)
n.2125G>T
c.2345G>T (p.Gly782Val)
c.242G>T (p.Gly81Val)
c.2684G>T (p.Gly895Val)
c.1004G>T (p.Gly335Val)
 gnomAD v4
Xg.108620419A>CCA517924266COL4A5c.2670A>C (p.Gly890=)
n.2126A>C
c.2346A>C (p.Gly782=)
c.243A>C (p.Gly81=)
c.2685A>C (p.Gly895=)
c.1005A>C (p.Gly335=)
Xg.108620419A>GCA517924267COL4A5c.2670A>G (p.Gly890=)
n.2126A>G
c.2346A>G (p.Gly782=)
c.243A>G (p.Gly81=)
c.2685A>G (p.Gly895=)
c.1005A>G (p.Gly335=)
Xg.108620419A>TCA517924268COL4A5c.2670A>T (p.Gly890=)
n.2126A>T
c.2346A>T (p.Gly782=)
c.243A>T (p.Gly81=)
c.2685A>T (p.Gly895=)
c.1005A>T (p.Gly335=)
Xg.108620420T>ACA413851722COL4A5c.2671T>A (p.Phe891Ile)
n.2127T>A
c.2347T>A (p.Phe783Ile)
c.244T>A (p.Phe82Ile)
c.2686T>A (p.Phe896Ile)
c.1006T>A (p.Phe336Ile)
Xg.108620420T>CCA413851723COL4A5c.2671T>C (p.Phe891Leu)
n.2127T>C
c.2347T>C (p.Phe783Leu)
c.244T>C (p.Phe82Leu)
c.2686T>C (p.Phe896Leu)
c.1006T>C (p.Phe336Leu)
Xg.108620420T>GCA413851725COL4A5c.2671T>G (p.Phe891Val)
n.2127T>G
c.2347T>G (p.Phe783Val)
c.244T>G (p.Phe82Val)
c.2686T>G (p.Phe896Val)
c.1006T>G (p.Phe336Val)
Xg.108620421T>ACA413851728COL4A5c.2672T>A (p.Phe891Tyr)
n.2128T>A
c.2348T>A (p.Phe783Tyr)
c.245T>A (p.Phe82Tyr)
c.2687T>A (p.Phe896Tyr)
c.1007T>A (p.Phe336Tyr)
Xg.108620421T>CCA413851730COL4A5c.2672T>C (p.Phe891Ser)
n.2128T>C
c.2348T>C (p.Phe783Ser)
c.245T>C (p.Phe82Ser)
c.2687T>C (p.Phe896Ser)
c.1007T>C (p.Phe336Ser)
Xg.108620421T>GCA413851731COL4A5c.2672T>G (p.Phe891Cys)
n.2128T>G
c.2348T>G (p.Phe783Cys)
c.245T>G (p.Phe82Cys)
c.2687T>G (p.Phe896Cys)
c.1007T>G (p.Phe336Cys)
Xg.108620422T>ACA413851734COL4A5c.2673T>A (p.Phe891Leu)
n.2129T>A
c.2349T>A (p.Phe783Leu)
c.246T>A (p.Phe82Leu)
c.2688T>A (p.Phe896Leu)
c.1008T>A (p.Phe336Leu)
Xg.108620422T>CCA517924273COL4A5c.2673T>C (p.Phe891=)
n.2129T>C
c.2349T>C (p.Phe783=)
c.246T>C (p.Phe82=)
c.2688T>C (p.Phe896=)
c.1008T>C (p.Phe336=)
Xg.108620422T>GCA413851735COL4A5c.2673T>G (p.Phe891Leu)
n.2129T>G
c.2349T>G (p.Phe783Leu)
c.246T>G (p.Phe82Leu)
c.2688T>G (p.Phe896Leu)
c.1008T>G (p.Phe336Leu)
Xg.108620423C>ACA413851741COL4A5c.2674C>A (p.Pro892Thr)
n.2130C>A
c.2350C>A (p.Pro784Thr)
c.247C>A (p.Pro83Thr)
c.2689C>A (p.Pro897Thr)
c.1009C>A (p.Pro337Thr)
Xg.108620423C>GCA413851740COL4A5c.2674C>G (p.Pro892Ala)
n.2130C>G
c.2350C>G (p.Pro784Ala)
c.247C>G (p.Pro83Ala)
c.2689C>G (p.Pro897Ala)
c.1009C>G (p.Pro337Ala)
Xg.108620423C>TCA413851738COL4A5c.2674C>T (p.Pro892Ser)
n.2130C>T
c.2350C>T (p.Pro784Ser)
c.247C>T (p.Pro83Ser)
c.2689C>T (p.Pro897Ser)
c.1009C>T (p.Pro337Ser)
 COSMIC
Xg.108620424delCA2579676518COL4A5c.2675del (p.Pro892GlnfsTer9)
n.2131del
c.2351del (p.Pro784GlnfsTer9)
c.248del (p.Pro83GlnfsTer9)
c.2690del (p.Pro897GlnfsTer9)
c.1010del (p.Pro337GlnfsTer9)
Xg.108620424C>ACA413851743COL4A5c.2675C>A (p.Pro892Gln)
n.2131C>A
c.2351C>A (p.Pro784Gln)
c.248C>A (p.Pro83Gln)
c.2690C>A (p.Pro897Gln)
c.1010C>A (p.Pro337Gln)
 gnomAD v4
Xg.108620424C>GCA413851745COL4A5c.2675C>G (p.Pro892Arg)
n.2131C>G
c.2351C>G (p.Pro784Arg)
c.248C>G (p.Pro83Arg)
c.2690C>G (p.Pro897Arg)
c.1010C>G (p.Pro337Arg)
Xg.108620424C>TCA413851747COL4A5c.2675C>T (p.Pro892Leu)
n.2131C>T
c.2351C>T (p.Pro784Leu)
c.248C>T (p.Pro83Leu)
c.2690C>T (p.Pro897Leu)
c.1010C>T (p.Pro337Leu)
Xg.108620425A>CCA517924275COL4A5c.2676A>C (p.Pro892=)
n.2132A>C
c.2352A>C (p.Pro784=)
c.249A>C (p.Pro83=)
c.2691A>C (p.Pro897=)
c.1011A>C (p.Pro337=)
Xg.108620425A>GCA517924276COL4A5c.2676A>G (p.Pro892=)
n.2132A>G
c.2352A>G (p.Pro784=)
c.249A>G (p.Pro83=)
c.2691A>G (p.Pro897=)
c.1011A>G (p.Pro337=)
 gnomAD v4
Xg.108620425A>TCA517924277COL4A5c.2676A>T (p.Pro892=)
n.2132A>T
c.2352A>T (p.Pro784=)
c.249A>T (p.Pro83=)
c.2691A>T (p.Pro897=)
c.1011A>T (p.Pro337=)
 gnomAD v4
Xg.108620426G>ACA413851749COL4A5c.2677G>A (p.Gly893Ser)
n.2133G>A
c.2353G>A (p.Gly785Ser)
c.250G>A (p.Gly84Ser)
c.2692G>A (p.Gly898Ser)
c.1012G>A (p.Gly338Ser)
 ClinVar dbSNP
Xg.108620426G>CCA413851751COL4A5c.2677G>C (p.Gly893Arg)
n.2133G>C
c.2353G>C (p.Gly785Arg)
c.250G>C (p.Gly84Arg)
c.2692G>C (p.Gly898Arg)
c.1012G>C (p.Gly338Arg)
Xg.108620426G=CA2450695998COL4A5c.2677G= (p.Gly893=)
n.2133G=
c.2353G= (p.Gly785=)
c.250G= (p.Gly84=)
c.2692G= (p.Gly898=)
c.1012G= (p.Gly338=)
Xg.108620426G>TCA413851753COL4A5c.2677G>T (p.Gly893Cys)
n.2133G>T
c.2353G>T (p.Gly785Cys)
c.250G>T (p.Gly84Cys)
c.2692G>T (p.Gly898Cys)
c.1012G>T (p.Gly338Cys)
Xg.108620427G>ACA413851756COL4A5c.2677+1G>A (n.2677+1G>A)
n.2133+1G>A
c.2353+1G>A (n.2353+1G>A)
c.250+1G>A (n.250+1G>A)
c.2692+1G>A (n.2692+1G>A)
c.1012+1G>A (n.1012+1G>A)
Xg.108620427G>CCA413851757COL4A5c.2677+1G>C (n.2677+1G>C)
n.2133+1G>C
c.2353+1G>C (n.2353+1G>C)
c.250+1G>C (n.250+1G>C)
c.2692+1G>C (n.2692+1G>C)
c.1012+1G>C (n.1012+1G>C)
Xg.108620427G>TCA413851759COL4A5c.2677+1G>T (n.2677+1G>T)
n.2133+1G>T
c.2353+1G>T (n.2353+1G>T)
c.250+1G>T (n.250+1G>T)
c.2692+1G>T (n.2692+1G>T)
c.1012+1G>T (n.1012+1G>T)
 gnomAD v4
Xg.108620428T>ACA413851762COL4A5c.2677+2T>A (n.2677+2T>A)
n.2133+2T>A
c.2353+2T>A (n.2353+2T>A)
c.250+2T>A (n.250+2T>A)
c.2692+2T>A (n.2692+2T>A)
c.1012+2T>A (n.1012+2T>A)
Xg.108620428T>CCA413851764COL4A5c.2677+2T>C (n.2677+2T>C)
n.2133+2T>C
c.2353+2T>C (n.2353+2T>C)
c.250+2T>C (n.250+2T>C)
c.2692+2T>C (n.2692+2T>C)
c.1012+2T>C (n.1012+2T>C)
Xg.108620428T>GCA413851766COL4A5c.2677+2T>G (n.2677+2T>G)
n.2133+2T>G
c.2353+2T>G (n.2353+2T>G)
c.250+2T>G (n.250+2T>G)
c.2692+2T>G (n.2692+2T>G)
c.1012+2T>G (n.1012+2T>G)
Xg.108620429A=CA2450695999COL4A5c.2677+3A= (n.2677+3A=)
n.2133+3A=
c.2353+3A= (n.2353+3A=)
c.250+3A= (n.250+3A=)
c.2692+3A= (n.2692+3A=)
c.1012+3A= (n.1012+3A=)
Xg.108620429A>GCA869814020COL4A5c.2677+3A>G (n.2677+3A>G)
n.2133+3A>G
c.2353+3A>G (n.2353+3A>G)
c.250+3A>G (n.250+3A>G)
c.2692+3A>G (n.2692+3A>G)
c.1012+3A>G (n.1012+3A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108620430A=CA2450696000COL4A5c.2677+4A= (n.2677+4A=)
n.2133+4A=
c.2353+4A= (n.2353+4A=)
c.250+4A= (n.250+4A=)
c.2692+4A= (n.2692+4A=)
c.1012+4A= (n.1012+4A=)
Xg.108620430_108620431insACCTAGCA920430442COL4A5c.2677+4_2677+5insACCTAG (n.2677+4_2677+5insACCTAG)
n.2133+4_2133+5insACCTAG
c.2353+4_2353+5insACCTAG (n.2353+4_2353+5insACCTAG)
c.250+4_250+5insACCTAG (n.250+4_250+5insACCTAG)
c.2692+4_2692+5insACCTAG (n.2692+4_2692+5insACCTAG)
c.1012+4_1012+5insACCTAG (n.1012+4_1012+5insACCTAG)
 dbSNP
Xg.108620433delCA2694440018COL4A5c.2677+7del (n.2677+7del)
n.2133+7del
c.2353+7del (n.2353+7del)
c.250+7del (n.250+7del)
c.2692+7del (n.2692+7del)
c.1012+7del (n.1012+7del)
 gnomAD v4
Xg.108620433_108620434delinsTGCA2450696001COL4A5c.2677+7_2677+8delinsTG (n.2677+7_2677+8delinsTG)
n.2133+7_2133+8delinsTG
c.2353+7_2353+8delinsTG (n.2353+7_2353+8delinsTG)
c.250+7_250+8delinsTG (n.250+7_250+8delinsTG)
c.2692+7_2692+8delinsTG (n.2692+7_2692+8delinsTG)
c.1012+7_1012+8delinsTG (n.1012+7_1012+8delinsTG)
Xg.108620434delCA644063500COL4A5c.2677+8del (n.2677+8del)
n.2133+8del
c.2353+8del (n.2353+8del)
c.250+8del (n.250+8del)
c.2692+8del (n.2692+8del)
c.1012+8del (n.1012+8del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108620434G=CA2450696002COL4A5c.2677+8G= (n.2677+8G=)
n.2133+8G=
c.2353+8G= (n.2353+8G=)
c.250+8G= (n.250+8G=)
c.2692+8G= (n.2692+8G=)
c.1012+8G= (n.1012+8G=)
Xg.108620434G>TCA334049196COL4A5c.2677+8G>T (n.2677+8G>T)
n.2133+8G>T
c.2353+8G>T (n.2353+8G>T)
c.250+8G>T (n.250+8G>T)
c.2692+8G>T (n.2692+8G>T)
c.1012+8G>T (n.1012+8G>T)
 dbSNP gnomAD v4
Xg.108620437T>ACA2694440019COL4A5c.2677+11T>A (n.2677+11T>A)
n.2133+11T>A
c.2353+11T>A (n.2353+11T>A)
c.250+11T>A (n.250+11T>A)
c.2692+11T>A (n.2692+11T>A)
c.1012+11T>A (n.1012+11T>A)
 gnomAD v4
Xg.108620441delCA517924279COL4A5c.2677+15del (n.2677+15del)
n.2133+15del
c.2353+15del (n.2353+15del)
c.250+15del (n.250+15del)
c.2692+15del (n.2692+15del)
c.1012+15del (n.1012+15del)
 gnomAD v4
Xg.108620441G>ACA644063501COL4A5c.2677+15G>A (n.2677+15G>A)
n.2133+15G>A
c.2353+15G>A (n.2353+15G>A)
c.250+15G>A (n.250+15G>A)
c.2692+15G>A (n.2692+15G>A)
c.1012+15G>A (n.1012+15G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108620441G=CA2450696003COL4A5c.2677+15G= (n.2677+15G=)
n.2133+15G=
c.2353+15G= (n.2353+15G=)
c.250+15G= (n.250+15G=)
c.2692+15G= (n.2692+15G=)
c.1012+15G= (n.1012+15G=)
Xg.108620441G>TCA2694440020COL4A5c.2677+15G>T (n.2677+15G>T)
n.2133+15G>T
c.2353+15G>T (n.2353+15G>T)
c.250+15G>T (n.250+15G>T)
c.2692+15G>T (n.2692+15G>T)
c.1012+15G>T (n.1012+15G>T)
 gnomAD v4
Xg.108620445delCA2579676519COL4A5c.2677+19del (n.2677+19del)
n.2133+19del
c.2353+19del (n.2353+19del)
c.250+19del (n.250+19del)
c.2692+19del (n.2692+19del)
c.1012+19del (n.1012+19del)
Xg.108620445T>CCA10488958COL4A5c.2677+19T>C (n.2677+19T>C)
n.2133+19T>C
c.2353+19T>C (n.2353+19T>C)
c.250+19T>C (n.250+19T>C)
c.2692+19T>C (n.2692+19T>C)
c.1012+19T>C (n.1012+19T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108620445T=CA2450696004COL4A5c.2677+19T= (n.2677+19T=)
n.2133+19T=
c.2353+19T= (n.2353+19T=)
c.250+19T= (n.250+19T=)
c.2692+19T= (n.2692+19T=)
c.1012+19T= (n.1012+19T=)
Xg.108620446C>ACA2450696006COL4A5c.2677+20C>A (n.2677+20C>A)
n.2133+20C>A
c.2353+20C>A (n.2353+20C>A)
c.250+20C>A (n.250+20C>A)
c.2692+20C>A (n.2692+20C>A)
c.1012+20C>A (n.1012+20C>A)
 dbSNP gnomAD v4
Xg.108620446C=CA2450696005COL4A5c.2677+20C= (n.2677+20C=)
n.2133+20C=
c.2353+20C= (n.2353+20C=)
c.250+20C= (n.250+20C=)
c.2692+20C= (n.2692+20C=)
c.1012+20C= (n.1012+20C=)
Xg.108620446C>TCA869814022COL4A5c.2677+20C>T (n.2677+20C>T)
n.2133+20C>T
c.2353+20C>T (n.2353+20C>T)
c.250+20C>T (n.250+20C>T)
c.2692+20C>T (n.2692+20C>T)
c.1012+20C>T (n.1012+20C>T)
 ClinVar dbSNP
Xg.108620448C>ACA644063502COL4A5c.2677+22C>A (n.2677+22C>A)
n.2133+22C>A
c.2353+22C>A (n.2353+22C>A)
c.250+22C>A (n.250+22C>A)
c.2692+22C>A (n.2692+22C>A)
c.1012+22C>A (n.1012+22C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.108620448C=CA2450696007COL4A5c.2677+22C= (n.2677+22C=)
n.2133+22C=
c.2353+22C= (n.2353+22C=)
c.250+22C= (n.250+22C=)
c.2692+22C= (n.2692+22C=)
c.1012+22C= (n.1012+22C=)
Xg.108620448C>TCA2694440021COL4A5c.2677+22C>T (n.2677+22C>T)
n.2133+22C>T
c.2353+22C>T (n.2353+22C>T)
c.250+22C>T (n.250+22C>T)
c.2692+22C>T (n.2692+22C>T)
c.1012+22C>T (n.1012+22C>T)
 gnomAD v4
Xg.108620449T>ACA2579676520COL4A5c.2677+23T>A (n.2677+23T>A)
n.2133+23T>A
c.2353+23T>A (n.2353+23T>A)
c.250+23T>A (n.250+23T>A)
c.2692+23T>A (n.2692+23T>A)
c.1012+23T>A (n.1012+23T>A)
Xg.108620449T>CCA2694440022COL4A5c.2677+23T>C (n.2677+23T>C)
n.2133+23T>C
c.2353+23T>C (n.2353+23T>C)
c.250+23T>C (n.250+23T>C)
c.2692+23T>C (n.2692+23T>C)
c.1012+23T>C (n.1012+23T>C)
 gnomAD v4
Xg.108620450G>TCA2694440023COL4A5c.2677+24G>T (n.2677+24G>T)
n.2133+24G>T
c.2353+24G>T (n.2353+24G>T)
c.250+24G>T (n.250+24G>T)
c.2692+24G>T (n.2692+24G>T)
c.1012+24G>T (n.1012+24G>T)
 gnomAD v4
Xg.108620450_108620451delinsGACA2450696008COL4A5c.2677+24_2677+25delinsGA (n.2677+24_2677+25delinsGA)
n.2133+24_2133+25delinsGA
c.2353+24_2353+25delinsGA (n.2353+24_2353+25delinsGA)
c.250+24_250+25delinsGA (n.250+24_250+25delinsGA)
c.2692+24_2692+25delinsGA (n.2692+24_2692+25delinsGA)
c.1012+24_1012+25delinsGA (n.1012+24_1012+25delinsGA)
Xg.108620451delCA2450696009COL4A5c.2677+25del (n.2677+25del)
n.2133+25del
c.2353+25del (n.2353+25del)
c.250+25del (n.250+25del)
c.2692+25del (n.2692+25del)
c.1012+25del (n.1012+25del)
 dbSNP
Xg.108620453T>ACA2694440024COL4A5c.2677+27T>A (n.2677+27T>A)
n.2133+27T>A
c.2353+27T>A (n.2353+27T>A)
c.250+27T>A (n.250+27T>A)
c.2692+27T>A (n.2692+27T>A)
c.1012+27T>A (n.1012+27T>A)
 gnomAD v4
Xg.108620455G>ACA10488959COL4A5c.2677+29G>A (n.2677+29G>A)
n.2133+29G>A
c.2353+29G>A (n.2353+29G>A)
c.250+29G>A (n.250+29G>A)
c.2692+29G>A (n.2692+29G>A)
c.1012+29G>A (n.1012+29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620455G=CA2450696010COL4A5c.2677+29G= (n.2677+29G=)
n.2133+29G=
c.2353+29G= (n.2353+29G=)
c.250+29G= (n.250+29G=)
c.2692+29G= (n.2692+29G=)
c.1012+29G= (n.1012+29G=)
Xg.108620456G>ACA10488960COL4A5c.2677+30G>A (n.2677+30G>A)
n.2133+30G>A
c.2353+30G>A (n.2353+30G>A)
c.250+30G>A (n.250+30G>A)
c.2692+30G>A (n.2692+30G>A)
c.1012+30G>A (n.1012+30G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620456G>CCA2822894160COL4A5c.2677+30G>C (n.2677+30G>C)
n.2133+30G>C
c.2353+30G>C (n.2353+30G>C)
c.250+30G>C (n.250+30G>C)
c.2692+30G>C (n.2692+30G>C)
c.1012+30G>C (n.1012+30G>C)
Xg.108620456G=CA2450696011COL4A5c.2677+30G= (n.2677+30G=)
n.2133+30G=
c.2353+30G= (n.2353+30G=)
c.250+30G= (n.250+30G=)
c.2692+30G= (n.2692+30G=)
c.1012+30G= (n.1012+30G=)
Xg.108620456G>TCA2694440025COL4A5c.2677+30G>T (n.2677+30G>T)
n.2133+30G>T
c.2353+30G>T (n.2353+30G>T)
c.250+30G>T (n.250+30G>T)
c.2692+30G>T (n.2692+30G>T)
c.1012+30G>T (n.1012+30G>T)
 gnomAD v4
Xg.108620457delCA2579676521COL4A5c.2677+31del (n.2677+31del)
n.2133+31del
c.2353+31del (n.2353+31del)
c.250+31del (n.250+31del)
c.2692+31del (n.2692+31del)
c.1012+31del (n.1012+31del)
 gnomAD v4
Xg.108620457A>GCA2694440026COL4A5c.2677+31A>G (n.2677+31A>G)
n.2133+31A>G
c.2353+31A>G (n.2353+31A>G)
c.250+31A>G (n.250+31A>G)
c.2692+31A>G (n.2692+31A>G)
c.1012+31A>G (n.1012+31A>G)
 gnomAD v4
Xg.108620458T>CCA2694440028COL4A5c.2677+32T>C (n.2677+32T>C)
n.2133+32T>C
c.2353+32T>C (n.2353+32T>C)
c.250+32T>C (n.250+32T>C)
c.2692+32T>C (n.2692+32T>C)
c.1012+32T>C (n.1012+32T>C)
 gnomAD v4
Xg.108620458T>GCA2694440029COL4A5c.2677+32T>G (n.2677+32T>G)
n.2133+32T>G
c.2353+32T>G (n.2353+32T>G)
c.250+32T>G (n.250+32T>G)
c.2692+32T>G (n.2692+32T>G)
c.1012+32T>G (n.1012+32T>G)
 gnomAD v4
Xg.108620459delCA2694440027COL4A5c.2677+33del (n.2677+33del)
n.2133+33del
c.2353+33del (n.2353+33del)
c.250+33del (n.250+33del)
c.2692+33del (n.2692+33del)
c.1012+33del (n.1012+33del)
 gnomAD v4
Xg.108620459T>ACA2579676522COL4A5c.2677+33T>A (n.2677+33T>A)
n.2133+33T>A
c.2353+33T>A (n.2353+33T>A)
c.250+33T>A (n.250+33T>A)
c.2692+33T>A (n.2692+33T>A)
c.1012+33T>A (n.1012+33T>A)
 gnomAD v4
Xg.108620461A>TCA2694440030COL4A5c.2677+35A>T (n.2677+35A>T)
n.2133+35A>T
c.2353+35A>T (n.2353+35A>T)
c.250+35A>T (n.250+35A>T)
c.2692+35A>T (n.2692+35A>T)
c.1012+35A>T (n.1012+35A>T)
 gnomAD v4
Xg.108620462G>ACA2694440031COL4A5c.2677+36G>A (n.2677+36G>A)
n.2133+36G>A
c.2353+36G>A (n.2353+36G>A)
c.250+36G>A (n.250+36G>A)
c.2692+36G>A (n.2692+36G>A)
c.1012+36G>A (n.1012+36G>A)
 gnomAD v4
Xg.108620462G>CCA2450696013COL4A5c.2677+36G>C (n.2677+36G>C)
n.2133+36G>C
c.2353+36G>C (n.2353+36G>C)
c.250+36G>C (n.250+36G>C)
c.2692+36G>C (n.2692+36G>C)
c.1012+36G>C (n.1012+36G>C)
 dbSNP
Xg.108620462G=CA2450696012COL4A5c.2677+36G= (n.2677+36G=)
n.2133+36G=
c.2353+36G= (n.2353+36G=)
c.250+36G= (n.250+36G=)
c.2692+36G= (n.2692+36G=)
c.1012+36G= (n.1012+36G=)
Xg.108620463G>ACA2579676523COL4A5c.2677+37G>A (n.2677+37G>A)
n.2133+37G>A
c.2353+37G>A (n.2353+37G>A)
c.250+37G>A (n.250+37G>A)
c.2692+37G>A (n.2692+37G>A)
c.1012+37G>A (n.1012+37G>A)
Xg.108620463G>CCA2694440033COL4A5c.2677+37G>C (n.2677+37G>C)
n.2133+37G>C
c.2353+37G>C (n.2353+37G>C)
c.250+37G>C (n.250+37G>C)
c.2692+37G>C (n.2692+37G>C)
c.1012+37G>C (n.1012+37G>C)
 gnomAD v4
Xg.108620463G>TCA2694440032COL4A5c.2677+37G>T (n.2677+37G>T)
n.2133+37G>T
c.2353+37G>T (n.2353+37G>T)
c.250+37G>T (n.250+37G>T)
c.2692+37G>T (n.2692+37G>T)
c.1012+37G>T (n.1012+37G>T)
 gnomAD v4
Xg.108620464A>GCA2694440034COL4A5c.2677+38A>G (n.2677+38A>G)
n.2133+38A>G
c.2353+38A>G (n.2353+38A>G)
c.250+38A>G (n.250+38A>G)
c.2692+38A>G (n.2692+38A>G)
c.1012+38A>G (n.1012+38A>G)
 gnomAD v4
Xg.108620465A>CCA2579676524COL4A5c.2677+39A>C (n.2677+39A>C)
n.2133+39A>C
c.2353+39A>C (n.2353+39A>C)
c.250+39A>C (n.250+39A>C)
c.2692+39A>C (n.2692+39A>C)
c.1012+39A>C (n.1012+39A>C)
Xg.108620465A>GCA2822894164COL4A5c.2677+39A>G (n.2677+39A>G)
n.2133+39A>G
c.2353+39A>G (n.2353+39A>G)
c.250+39A>G (n.250+39A>G)
c.2692+39A>G (n.2692+39A>G)
c.1012+39A>G (n.1012+39A>G)
Xg.108620467_108620473delinsTTAAAACCA2450696014COL4A5c.2677+41_2677+47delinsTTAAAAC (n.2677+41_2677+47delinsTTAAAAC)
n.2133+41_2133+47delinsTTAAAAC
c.2353+41_2353+47delinsTTAAAAC (n.2353+41_2353+47delinsTTAAAAC)
c.250+41_250+47delinsTTAAAAC (n.250+41_250+47delinsTTAAAAC)
c.2692+41_2692+47delinsTTAAAAC (n.2692+41_2692+47delinsTTAAAAC)
c.1012+41_1012+47delinsTTAAAAC (n.1012+41_1012+47delinsTTAAAAC)
Xg.108620468T>ACA644063503COL4A5c.2677+42T>A (n.2677+42T>A)
n.2133+42T>A
c.2353+42T>A (n.2353+42T>A)
c.250+42T>A (n.250+42T>A)
c.2692+42T>A (n.2692+42T>A)
c.1012+42T>A (n.1012+42T>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.108620468T=CA2450696016COL4A5c.2677+42T= (n.2677+42T=)
n.2133+42T=
c.2353+42T= (n.2353+42T=)
c.250+42T= (n.250+42T=)
c.2692+42T= (n.2692+42T=)
c.1012+42T= (n.1012+42T=)
Xg.108620471_108620476delCA2450696015COL4A5c.2677+45_2677+50del (n.2677+45_2677+50del)
n.2133+45_2133+50del
c.2353+45_2353+50del (n.2353+45_2353+50del)
c.250+45_250+50del (n.250+45_250+50del)
c.2692+45_2692+50del (n.2692+45_2692+50del)
c.1012+45_1012+50del (n.1012+45_1012+50del)
 dbSNP
Xg.108620469A>TCA2694440035COL4A5c.2677+43A>T (n.2677+43A>T)
n.2133+43A>T
c.2353+43A>T (n.2353+43A>T)
c.250+43A>T (n.250+43A>T)
c.2692+43A>T (n.2692+43A>T)
c.1012+43A>T (n.1012+43A>T)
 gnomAD v4
Xg.108620473C>ACA2694440036COL4A5c.2677+47C>A (n.2677+47C>A)
n.2133+47C>A
c.2353+47C>A (n.2353+47C>A)
c.250+47C>A (n.250+47C>A)
c.2692+47C>A (n.2692+47C>A)
c.1012+47C>A (n.1012+47C>A)
 gnomAD v4
Xg.108620473C>TCA2694440037COL4A5c.2677+47C>T (n.2677+47C>T)
n.2133+47C>T
c.2353+47C>T (n.2353+47C>T)
c.250+47C>T (n.250+47C>T)
c.2692+47C>T (n.2692+47C>T)
c.1012+47C>T (n.1012+47C>T)
 gnomAD v4
Xg.108620474T>CCA2694440038COL4A5c.2677+48T>C (n.2677+48T>C)
n.2133+48T>C
c.2353+48T>C (n.2353+48T>C)
c.250+48T>C (n.250+48T>C)
c.2692+48T>C (n.2692+48T>C)
c.1012+48T>C (n.1012+48T>C)
 gnomAD v4
Xg.108620475A>CCA2579676526COL4A5c.2677+49A>C (n.2677+49A>C)
n.2133+49A>C
c.2353+49A>C (n.2353+49A>C)
c.250+49A>C (n.250+49A>C)
c.2692+49A>C (n.2692+49A>C)
c.1012+49A>C (n.1012+49A>C)
Xg.108620476delCA2579676525COL4A5c.2677+50del (n.2677+50del)
n.2133+50del
c.2353+50del (n.2353+50del)
c.250+50del (n.250+50del)
c.2692+50del (n.2692+50del)
c.1012+50del (n.1012+50del)
Xg.108620476A=CA2450696017COL4A5c.2677+50A= (n.2677+50A=)
n.2133+50A=
c.2353+50A= (n.2353+50A=)
c.250+50A= (n.250+50A=)
c.2692+50A= (n.2692+50A=)
c.1012+50A= (n.1012+50A=)
Xg.108620476A>TCA644063504COL4A5c.2677+50A>T (n.2677+50A>T)
n.2133+50A>T
c.2353+50A>T (n.2353+50A>T)
c.250+50A>T (n.250+50A>T)
c.2692+50A>T (n.2692+50A>T)
c.1012+50A>T (n.1012+50A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620477T>CCA644063505COL4A5c.2677+51T>C (n.2677+51T>C)
n.2133+51T>C
c.2353+51T>C (n.2353+51T>C)
c.250+51T>C (n.250+51T>C)
c.2692+51T>C (n.2692+51T>C)
c.1012+51T>C (n.1012+51T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620477T>GCA2694440039COL4A5c.2677+51T>G (n.2677+51T>G)
n.2133+51T>G
c.2353+51T>G (n.2353+51T>G)
c.250+51T>G (n.250+51T>G)
c.2692+51T>G (n.2692+51T>G)
c.1012+51T>G (n.1012+51T>G)
 gnomAD v4
Xg.108620477T=CA2450696018COL4A5c.2677+51T= (n.2677+51T=)
n.2133+51T=
c.2353+51T= (n.2353+51T=)
c.250+51T= (n.250+51T=)
c.2692+51T= (n.2692+51T=)
c.1012+51T= (n.1012+51T=)
Xg.108620478A>GCA2694440040COL4A5c.2677+52A>G (n.2677+52A>G)
n.2133+52A>G
c.2353+52A>G (n.2353+52A>G)
c.250+52A>G (n.250+52A>G)
c.2692+52A>G (n.2692+52A>G)
c.1012+52A>G (n.1012+52A>G)
 gnomAD v4
Xg.108620479C>ACA1136178764COL4A5c.2677+53C>A (n.2677+53C>A)
n.2133+53C>A
c.2353+53C>A (n.2353+53C>A)
c.250+53C>A (n.250+53C>A)
c.2692+53C>A (n.2692+53C>A)
c.1012+53C>A (n.1012+53C>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108620479C=CA2450696019COL4A5c.2677+53C= (n.2677+53C=)
n.2133+53C=
c.2353+53C= (n.2353+53C=)
c.250+53C= (n.250+53C=)
c.2692+53C= (n.2692+53C=)
c.1012+53C= (n.1012+53C=)
Xg.108620479C>TCA658421056COL4A5c.2677+53C>T (n.2677+53C>T)
n.2133+53C>T
c.2353+53C>T (n.2353+53C>T)
c.250+53C>T (n.250+53C>T)
c.2692+53C>T (n.2692+53C>T)
c.1012+53C>T (n.1012+53C>T)
 dbSNP gnomAD v4 COSMIC
Xg.108620480G>ACA334049221COL4A5c.2677+54G>A (n.2677+54G>A)
n.2133+54G>A
c.2353+54G>A (n.2353+54G>A)
c.250+54G>A (n.250+54G>A)
c.2692+54G>A (n.2692+54G>A)
c.1012+54G>A (n.1012+54G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620480G=CA2450696020COL4A5c.2677+54G= (n.2677+54G=)
n.2133+54G=
c.2353+54G= (n.2353+54G=)
c.250+54G= (n.250+54G=)
c.2692+54G= (n.2692+54G=)
c.1012+54G= (n.1012+54G=)
Xg.108620480G>TCA2694440041COL4A5c.2677+54G>T (n.2677+54G>T)
n.2133+54G>T
c.2353+54G>T (n.2353+54G>T)
c.250+54G>T (n.250+54G>T)
c.2692+54G>T (n.2692+54G>T)
c.1012+54G>T (n.1012+54G>T)
 gnomAD v4
Xg.108620482C>ACA2694440042COL4A5c.2677+56C>A (n.2677+56C>A)
n.2133+56C>A
c.2353+56C>A (n.2353+56C>A)
c.250+56C>A (n.250+56C>A)
c.2692+56C>A (n.2692+56C>A)
c.1012+56C>A (n.1012+56C>A)
 gnomAD v4

Number of alleles fetched