Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108620334_108620406delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC | CA2450695956 | COL4A5 | c.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=) | |
X | g.108620338_108620373del | CA2695235217 | COL4A5 | c.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) | |
X | g.108620338_108620409del | CA891843942 | COL4A5 | c.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) | |
X | g.108620338_108620374delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA | CA2450695959 | COL4A5 | c.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=) | |
X | g.108620339_108620374del | CA334048999 | COL4A5 | c.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 |
X | g.108620341_108620359delinsTCCAGGGATCCCCGGAGCA | CA2450695961 | COL4A5 | c.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=) | |
X | g.108620344_108620361del | CA258714 | COL4A5 | c.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 |
X | g.108620354G>A | CA258720 | COL4A5 | c.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 |
X | g.108620354G>C | CA413851463 | COL4A5 | c.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) | |
X | g.108620354G= | CA2450695969 | COL4A5 | c.2605G= (p.Gly869=) n.2061G= c.2281G= (p.Gly761=) c.178G= (p.Gly60=) c.2620G= (p.Gly874=) c.940G= (p.Gly314=) | |
X | g.108620354G>T | CA413851461 | COL4A5 | c.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) | |
X | g.108620355_108620357dup | CA2695235218 | COL4A5 | c.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) | |
X | g.108620355G>A | CA413851468 | COL4A5 | c.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) | |
X | g.108620355G>C | CA413851465 | COL4A5 | c.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) | |
X | g.108620355G= | CA2450695970 | COL4A5 | c.2606G= (p.Gly869=) n.2062G= c.2282G= (p.Gly761=) c.179G= (p.Gly60=) c.2621G= (p.Gly874=) c.941G= (p.Gly314=) | |
X | g.108620355G>T | CA413851469 | COL4A5 | c.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 |
X | g.108620356A= | CA2450695971 | COL4A5 | c.2607A= (p.Gly869=) n.2063A= c.2283A= (p.Gly761=) c.180A= (p.Gly60=) c.2622A= (p.Gly874=) c.942A= (p.Gly314=) | |
X | g.108620356A>C | CA517924150 | COL4A5 | c.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=) | |
X | g.108620356A>G | CA10488952 | COL4A5 | c.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 |
X | g.108620356A>T | CA517924151 | COL4A5 | c.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=) | |
X | g.108620357G>A | CA413851477 | COL4A5 | c.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 |
X | g.108620357G>C | CA413851474 | COL4A5 | c.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) | |
X | g.108620357G= | CA2450695972 | COL4A5 | c.2608G= (p.Ala870=) n.2064G= c.2284G= (p.Ala762=) c.181G= (p.Ala61=) c.2623G= (p.Ala875=) c.943G= (p.Ala315=) | |
X | g.108620357G>T | CA413851476 | COL4A5 | c.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) | |
X | g.108620358C>A | CA413851478 | COL4A5 | c.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) | |
X | g.108620358C>G | CA413851480 | COL4A5 | c.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) | |
X | g.108620358C>T | CA413851482 | COL4A5 | c.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 |
X | g.108620359A>C | CA517924157 | COL4A5 | c.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=) | |
X | g.108620359A>G | CA517924158 | COL4A5 | c.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=) | |
X | g.108620359A>T | CA517924159 | COL4A5 | c.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=) | |
X | g.108620360C>A | CA413851484 | COL4A5 | c.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) | |
X | g.108620360C>G | CA413851486 | COL4A5 | c.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) | |
X | g.108620360C>T | CA413851488 | COL4A5 | c.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) | |
X | g.108620361C>A | CA413851490 | COL4A5 | c.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) | |
X | g.108620361C>G | CA413851492 | COL4A5 | c.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 |
X | g.108620361C>T | CA413851494 | COL4A5 | c.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) | |
X | g.108620362T>A | CA517924165 | COL4A5 | c.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=) | |
X | g.108620362T>C | CA517924167 | COL4A5 | c.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=) | |
X | g.108620362T>G | CA517924169 | COL4A5 | c.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=) | |
X | g.108620363G>A | CA413851499 | COL4A5 | c.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) | |
X | g.108620363G>C | CA258722 | COL4A5 | c.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 |
X | g.108620363G= | CA2450695973 | COL4A5 | c.2614G= (p.Gly872=) n.2070G= c.2290G= (p.Gly764=) c.187G= (p.Gly63=) c.2629G= (p.Gly877=) c.949G= (p.Gly317=) | |
X | g.108620363G>T | CA413851496 | COL4A5 | c.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 |
X | g.108620364G>A | CA413851501 | COL4A5 | c.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 |
X | g.108620364G>C | CA413851503 | COL4A5 | c.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 |
X | g.108620364G= | CA2450695974 | COL4A5 | c.2615G= (p.Gly872=) n.2071G= c.2291G= (p.Gly764=) c.188G= (p.Gly63=) c.2630G= (p.Gly877=) c.950G= (p.Gly317=) | |
X | g.108620364G>T | CA413851505 | COL4A5 | c.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 |
X | g.108620365T>A | CA517924171 | COL4A5 | c.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=) | |
X | g.108620365T>C | CA517924172 | COL4A5 | c.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=) | |
X | g.108620365T>G | CA517924173 | COL4A5 | c.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=) |