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_108620373delCA2695235217COL4A5c.2589_2624del (p.Ser864_Gly875del)
n.2045_2080del
c.2265_2300del (p.Ser756_Gly767del)
c.162_197del (p.Ser55_Gly66del)
c.2604_2639del (p.Ser869_Gly880del)
c.924_959del (p.Ser309_Gly320del)
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.108620338_108620374delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACA2450695959COL4A5c.2589_2625delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly863=)
n.2045_2081delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA
c.2265_2301delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly755=)
c.162_198delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly54=)
c.2604_2640delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly868=)
c.924_960delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly308=)
Xg.108620339_108620374delCA334048999COL4A5c.2590_2625del (p.Ser864_Gly875del)
n.2046_2081del
c.2266_2301del (p.Ser756_Gly767del)
c.163_198del (p.Ser55_Gly66del)
c.2605_2640del (p.Ser869_Gly880del)
c.925_960del (p.Ser309_Gly320del)
dbSNP
Xg.108620341_108620359delinsTCCAGGGATCCCCGGAGCACA2450695961COL4A5c.2592_2610delinsTCCAGGGATCCCCGGAGCA (p.Ser864=)
n.2048_2066delinsTCCAGGGATCCCCGGAGCA
c.2268_2286delinsTCCAGGGATCCCCGGAGCA (p.Ser756=)
c.165_183delinsTCCAGGGATCCCCGGAGCA (p.Ser55=)
c.2607_2625delinsTCCAGGGATCCCCGGAGCA (p.Ser869=)
c.927_945delinsTCCAGGGATCCCCGGAGCA (p.Ser309=)
Xg.108620344_108620361delCA258714COL4A5c.2595_2612del (p.Gly866_Pro871del)
n.2051_2068del
c.2271_2288del (p.Gly758_Pro763del)
c.168_185del (p.Gly57_Pro62del)
c.2610_2627del (p.Gly871_Pro876del)
c.930_947del (p.Gly311_Pro316del)
dbSNP
Xg.108620354G>ACA258720COL4A5c.2605G>A (p.Gly869Arg)
n.2061G>A
c.2281G>A (p.Gly761Arg)
c.178G>A (p.Gly60Arg)
c.2620G>A (p.Gly874Arg)
c.940G>A (p.Gly314Arg)
ClinVar dbSNP gnomAD v4
Xg.108620354G>CCA413851463COL4A5c.2605G>C (p.Gly869Arg)
n.2061G>C
c.2281G>C (p.Gly761Arg)
c.178G>C (p.Gly60Arg)
c.2620G>C (p.Gly874Arg)
c.940G>C (p.Gly314Arg)
Xg.108620354G=CA2450695969COL4A5c.2605G= (p.Gly869=)
n.2061G=
c.2281G= (p.Gly761=)
c.178G= (p.Gly60=)
c.2620G= (p.Gly874=)
c.940G= (p.Gly314=)
Xg.108620354G>TCA413851461COL4A5c.2605G>T (p.Gly869Ter)
n.2061G>T
c.2281G>T (p.Gly761Ter)
c.178G>T (p.Gly60Ter)
c.2620G>T (p.Gly874Ter)
c.940G>T (p.Gly314Ter)
Xg.108620355_108620357dupCA2695235218COL4A5c.2606_2608dup (p.Gly869_Ala870insGly)
n.2062_2064dup
c.2282_2284dup (p.Gly761_Ala762insGly)
c.179_181dup (p.Gly60_Ala61insGly)
c.2621_2623dup (p.Gly874_Ala875insGly)
c.941_943dup (p.Gly314_Ala315insGly)
Xg.108620355G>ACA413851468COL4A5c.2606G>A (p.Gly869Glu)
n.2062G>A
c.2282G>A (p.Gly761Glu)
c.179G>A (p.Gly60Glu)
c.2621G>A (p.Gly874Glu)
c.941G>A (p.Gly314Glu)
Xg.108620355G>CCA413851465COL4A5c.2606G>C (p.Gly869Ala)
n.2062G>C
c.2282G>C (p.Gly761Ala)
c.179G>C (p.Gly60Ala)
c.2621G>C (p.Gly874Ala)
c.941G>C (p.Gly314Ala)
Xg.108620355G=CA2450695970COL4A5c.2606G= (p.Gly869=)
n.2062G=
c.2282G= (p.Gly761=)
c.179G= (p.Gly60=)
c.2621G= (p.Gly874=)
c.941G= (p.Gly314=)
Xg.108620355G>TCA413851469COL4A5c.2606G>T (p.Gly869Val)
n.2062G>T
c.2282G>T (p.Gly761Val)
c.179G>T (p.Gly60Val)
c.2621G>T (p.Gly874Val)
c.941G>T (p.Gly314Val)
ClinVar dbSNP
Xg.108620356A=CA2450695971COL4A5c.2607A= (p.Gly869=)
n.2063A=
c.2283A= (p.Gly761=)
c.180A= (p.Gly60=)
c.2622A= (p.Gly874=)
c.942A= (p.Gly314=)
Xg.108620356A>CCA517924150COL4A5c.2607A>C (p.Gly869=)
n.2063A>C
c.2283A>C (p.Gly761=)
c.180A>C (p.Gly60=)
c.2622A>C (p.Gly874=)
c.942A>C (p.Gly314=)
Xg.108620356A>GCA10488952COL4A5c.2607A>G (p.Gly869=)
n.2063A>G
c.2283A>G (p.Gly761=)
c.180A>G (p.Gly60=)
c.2622A>G (p.Gly874=)
c.942A>G (p.Gly314=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620356A>TCA517924151COL4A5c.2607A>T (p.Gly869=)
n.2063A>T
c.2283A>T (p.Gly761=)
c.180A>T (p.Gly60=)
c.2622A>T (p.Gly874=)
c.942A>T (p.Gly314=)
Xg.108620357G>ACA413851477COL4A5c.2608G>A (p.Ala870Thr)
n.2064G>A
c.2284G>A (p.Ala762Thr)
c.181G>A (p.Ala61Thr)
c.2623G>A (p.Ala875Thr)
c.943G>A (p.Ala315Thr)
dbSNP gnomAD v3 gnomAD v4
Xg.108620357G>CCA413851474COL4A5c.2608G>C (p.Ala870Pro)
n.2064G>C
c.2284G>C (p.Ala762Pro)
c.181G>C (p.Ala61Pro)
c.2623G>C (p.Ala875Pro)
c.943G>C (p.Ala315Pro)
Xg.108620357G=CA2450695972COL4A5c.2608G= (p.Ala870=)
n.2064G=
c.2284G= (p.Ala762=)
c.181G= (p.Ala61=)
c.2623G= (p.Ala875=)
c.943G= (p.Ala315=)
Xg.108620357G>TCA413851476COL4A5c.2608G>T (p.Ala870Ser)
n.2064G>T
c.2284G>T (p.Ala762Ser)
c.181G>T (p.Ala61Ser)
c.2623G>T (p.Ala875Ser)
c.943G>T (p.Ala315Ser)
Xg.108620358C>ACA413851478COL4A5c.2609C>A (p.Ala870Glu)
n.2065C>A
c.2285C>A (p.Ala762Glu)
c.182C>A (p.Ala61Glu)
c.2624C>A (p.Ala875Glu)
c.944C>A (p.Ala315Glu)
Xg.108620358C>GCA413851480COL4A5c.2609C>G (p.Ala870Gly)
n.2065C>G
c.2285C>G (p.Ala762Gly)
c.182C>G (p.Ala61Gly)
c.2624C>G (p.Ala875Gly)
c.944C>G (p.Ala315Gly)
Xg.108620358C>TCA413851482COL4A5c.2609C>T (p.Ala870Val)
n.2065C>T
c.2285C>T (p.Ala762Val)
c.182C>T (p.Ala61Val)
c.2624C>T (p.Ala875Val)
c.944C>T (p.Ala315Val)
gnomAD v4
Xg.108620359A>CCA517924157COL4A5c.2610A>C (p.Ala870=)
n.2066A>C
c.2286A>C (p.Ala762=)
c.183A>C (p.Ala61=)
c.2625A>C (p.Ala875=)
c.945A>C (p.Ala315=)
Xg.108620359A>GCA517924158COL4A5c.2610A>G (p.Ala870=)
n.2066A>G
c.2286A>G (p.Ala762=)
c.183A>G (p.Ala61=)
c.2625A>G (p.Ala875=)
c.945A>G (p.Ala315=)
Xg.108620359A>TCA517924159COL4A5c.2610A>T (p.Ala870=)
n.2066A>T
c.2286A>T (p.Ala762=)
c.183A>T (p.Ala61=)
c.2625A>T (p.Ala875=)
c.945A>T (p.Ala315=)
Xg.108620360C>ACA413851484COL4A5c.2611C>A (p.Pro871Thr)
n.2067C>A
c.2287C>A (p.Pro763Thr)
c.184C>A (p.Pro62Thr)
c.2626C>A (p.Pro876Thr)
c.946C>A (p.Pro316Thr)
Xg.108620360C>GCA413851486COL4A5c.2611C>G (p.Pro871Ala)
n.2067C>G
c.2287C>G (p.Pro763Ala)
c.184C>G (p.Pro62Ala)
c.2626C>G (p.Pro876Ala)
c.946C>G (p.Pro316Ala)
Xg.108620360C>TCA413851488COL4A5c.2611C>T (p.Pro871Ser)
n.2067C>T
c.2287C>T (p.Pro763Ser)
c.184C>T (p.Pro62Ser)
c.2626C>T (p.Pro876Ser)
c.946C>T (p.Pro316Ser)
Xg.108620361C>ACA413851490COL4A5c.2612C>A (p.Pro871His)
n.2068C>A
c.2288C>A (p.Pro763His)
c.185C>A (p.Pro62His)
c.2627C>A (p.Pro876His)
c.947C>A (p.Pro316His)
Xg.108620361C>GCA413851492COL4A5c.2612C>G (p.Pro871Arg)
n.2068C>G
c.2288C>G (p.Pro763Arg)
c.185C>G (p.Pro62Arg)
c.2627C>G (p.Pro876Arg)
c.947C>G (p.Pro316Arg)
gnomAD v4
Xg.108620361C>TCA413851494COL4A5c.2612C>T (p.Pro871Leu)
n.2068C>T
c.2288C>T (p.Pro763Leu)
c.185C>T (p.Pro62Leu)
c.2627C>T (p.Pro876Leu)
c.947C>T (p.Pro316Leu)
Xg.108620362T>ACA517924165COL4A5c.2613T>A (p.Pro871=)
n.2069T>A
c.2289T>A (p.Pro763=)
c.186T>A (p.Pro62=)
c.2628T>A (p.Pro876=)
c.948T>A (p.Pro316=)
Xg.108620362T>CCA517924167COL4A5c.2613T>C (p.Pro871=)
n.2069T>C
c.2289T>C (p.Pro763=)
c.186T>C (p.Pro62=)
c.2628T>C (p.Pro876=)
c.948T>C (p.Pro316=)
Xg.108620362T>GCA517924169COL4A5c.2613T>G (p.Pro871=)
n.2069T>G
c.2289T>G (p.Pro763=)
c.186T>G (p.Pro62=)
c.2628T>G (p.Pro876=)
c.948T>G (p.Pro316=)
Xg.108620363G>ACA413851499COL4A5c.2614G>A (p.Gly872Ser)
n.2070G>A
c.2290G>A (p.Gly764Ser)
c.187G>A (p.Gly63Ser)
c.2629G>A (p.Gly877Ser)
c.949G>A (p.Gly317Ser)
Xg.108620363G>CCA258722COL4A5c.2614G>C (p.Gly872Arg)
n.2070G>C
c.2290G>C (p.Gly764Arg)
c.187G>C (p.Gly63Arg)
c.2629G>C (p.Gly877Arg)
c.949G>C (p.Gly317Arg)
dbSNP
Xg.108620363G=CA2450695973COL4A5c.2614G= (p.Gly872=)
n.2070G=
c.2290G= (p.Gly764=)
c.187G= (p.Gly63=)
c.2629G= (p.Gly877=)
c.949G= (p.Gly317=)
Xg.108620363G>TCA413851496COL4A5c.2614G>T (p.Gly872Cys)
n.2070G>T
c.2290G>T (p.Gly764Cys)
c.187G>T (p.Gly63Cys)
c.2629G>T (p.Gly877Cys)
c.949G>T (p.Gly317Cys)
ClinVar dbSNP
Xg.108620364G>ACA413851501COL4A5c.2615G>A (p.Gly872Asp)
n.2071G>A
c.2291G>A (p.Gly764Asp)
c.188G>A (p.Gly63Asp)
c.2630G>A (p.Gly877Asp)
c.950G>A (p.Gly317Asp)
ClinVar dbSNP
Xg.108620364G>CCA413851503COL4A5c.2615G>C (p.Gly872Ala)
n.2071G>C
c.2291G>C (p.Gly764Ala)
c.188G>C (p.Gly63Ala)
c.2630G>C (p.Gly877Ala)
c.950G>C (p.Gly317Ala)
ClinVar dbSNP
Xg.108620364G=CA2450695974COL4A5c.2615G= (p.Gly872=)
n.2071G=
c.2291G= (p.Gly764=)
c.188G= (p.Gly63=)
c.2630G= (p.Gly877=)
c.950G= (p.Gly317=)
Xg.108620364G>TCA413851505COL4A5c.2615G>T (p.Gly872Val)
n.2071G>T
c.2291G>T (p.Gly764Val)
c.188G>T (p.Gly63Val)
c.2630G>T (p.Gly877Val)
c.950G>T (p.Gly317Val)
dbSNP COSMIC COSMIC
Xg.108620365T>ACA517924171COL4A5c.2616T>A (p.Gly872=)
n.2072T>A
c.2292T>A (p.Gly764=)
c.189T>A (p.Gly63=)
c.2631T>A (p.Gly877=)
c.951T>A (p.Gly317=)
Xg.108620365T>CCA517924172COL4A5c.2616T>C (p.Gly872=)
n.2072T>C
c.2292T>C (p.Gly764=)
c.189T>C (p.Gly63=)
c.2631T>C (p.Gly877=)
c.951T>C (p.Gly317=)
Xg.108620365T>GCA517924173COL4A5c.2616T>G (p.Gly872=)
n.2072T>G
c.2292T>G (p.Gly764=)
c.189T>G (p.Gly63=)
c.2631T>G (p.Gly877=)
c.951T>G (p.Gly317=)

Number of alleles fetched