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.108620339A>C | CA413851411 | COL4A5 | c.2590A>C (p.Ser864Arg) n.2046A>C c.2266A>C (p.Ser756Arg) c.163A>C (p.Ser55Arg) c.2605A>C (p.Ser869Arg) c.925A>C (p.Ser309Arg) | |
X | g.108620339A>G | CA413851412 | COL4A5 | c.2590A>G (p.Ser864Gly) n.2046A>G c.2266A>G (p.Ser756Gly) c.163A>G (p.Ser55Gly) c.2605A>G (p.Ser869Gly) c.925A>G (p.Ser309Gly) | |
X | g.108620339A>T | CA413851413 | COL4A5 | c.2590A>T (p.Ser864Cys) n.2046A>T c.2266A>T (p.Ser756Cys) c.163A>T (p.Ser55Cys) c.2605A>T (p.Ser869Cys) c.925A>T (p.Ser309Cys) | |
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.108620340G>A | CA413851414 | COL4A5 | c.2591G>A (p.Ser864Asn) n.2047G>A c.2267G>A (p.Ser756Asn) c.164G>A (p.Ser55Asn) c.2606G>A (p.Ser869Asn) c.926G>A (p.Ser309Asn) | |
X | g.108620340G>C | CA413851415 | COL4A5 | c.2591G>C (p.Ser864Thr) n.2047G>C c.2267G>C (p.Ser756Thr) c.164G>C (p.Ser55Thr) c.2606G>C (p.Ser869Thr) c.926G>C (p.Ser309Thr) | |
X | g.108620340G= | CA2450695960 | COL4A5 | c.2591G= (p.Ser864=) n.2047G= c.2267G= (p.Ser756=) c.164G= (p.Ser55=) c.2606G= (p.Ser869=) c.926G= (p.Ser309=) | |
X | g.108620340G>T | CA334049006 | COL4A5 | c.2591G>T (p.Ser864Ile) n.2047G>T c.2267G>T (p.Ser756Ile) c.164G>T (p.Ser55Ile) c.2606G>T (p.Ser869Ile) c.926G>T (p.Ser309Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108620341T>A | CA413851416 | COL4A5 | c.2592T>A (p.Ser864Arg) n.2048T>A c.2268T>A (p.Ser756Arg) c.165T>A (p.Ser55Arg) c.2607T>A (p.Ser869Arg) c.927T>A (p.Ser309Arg) | |
X | g.108620341T>C | CA517924116 | COL4A5 | c.2592T>C (p.Ser864=) n.2048T>C c.2268T>C (p.Ser756=) c.165T>C (p.Ser55=) c.2607T>C (p.Ser869=) c.927T>C (p.Ser309=) | gnomAD v4 |
X | g.108620341T>G | CA413851417 | COL4A5 | c.2592T>G (p.Ser864Arg) n.2048T>G c.2268T>G (p.Ser756Arg) c.165T>G (p.Ser55Arg) c.2607T>G (p.Ser869Arg) c.927T>G (p.Ser309Arg) | |
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.108620342C>A | CA413851418 | COL4A5 | c.2593C>A (p.Pro865Thr) n.2049C>A c.2269C>A (p.Pro757Thr) c.166C>A (p.Pro56Thr) c.2608C>A (p.Pro870Thr) c.928C>A (p.Pro310Thr) | |
X | g.108620342C= | CA2450695962 | COL4A5 | c.2593C= (p.Pro865=) n.2049C= c.2269C= (p.Pro757=) c.166C= (p.Pro56=) c.2608C= (p.Pro870=) c.928C= (p.Pro310=) | |
X | g.108620342C>G | CA10488949 | COL4A5 | c.2593C>G (p.Pro865Ala) n.2049C>G c.2269C>G (p.Pro757Ala) c.166C>G (p.Pro56Ala) c.2608C>G (p.Pro870Ala) c.928C>G (p.Pro310Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620342C>T | CA413851419 | COL4A5 | c.2593C>T (p.Pro865Ser) n.2049C>T c.2269C>T (p.Pro757Ser) c.166C>T (p.Pro56Ser) c.2608C>T (p.Pro870Ser) c.928C>T (p.Pro310Ser) | |
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.108620343C>A | CA413851423 | COL4A5 | c.2594C>A (p.Pro865Gln) n.2050C>A c.2270C>A (p.Pro757Gln) c.167C>A (p.Pro56Gln) c.2609C>A (p.Pro870Gln) c.929C>A (p.Pro310Gln) | |
X | g.108620343C>G | CA413851424 | COL4A5 | c.2594C>G (p.Pro865Arg) n.2050C>G c.2270C>G (p.Pro757Arg) c.167C>G (p.Pro56Arg) c.2609C>G (p.Pro870Arg) c.929C>G (p.Pro310Arg) | |
X | g.108620343C>T | CA413851426 | COL4A5 | c.2594C>T (p.Pro865Leu) n.2050C>T c.2270C>T (p.Pro757Leu) c.167C>T (p.Pro56Leu) c.2609C>T (p.Pro870Leu) c.929C>T (p.Pro310Leu) | |
X | g.108620344A= | CA2450695963 | COL4A5 | c.2595A= (p.Pro865=) n.2051A= c.2271A= (p.Pro757=) c.168A= (p.Pro56=) c.2610A= (p.Pro870=) c.930A= (p.Pro310=) | |
X | g.108620344A>C | CA517924120 | COL4A5 | c.2595A>C (p.Pro865=) n.2051A>C c.2271A>C (p.Pro757=) c.168A>C (p.Pro56=) c.2610A>C (p.Pro870=) c.930A>C (p.Pro310=) | |
X | g.108620344A>G | CA517924121 | COL4A5 | c.2595A>G (p.Pro865=) n.2051A>G c.2271A>G (p.Pro757=) c.168A>G (p.Pro56=) c.2610A>G (p.Pro870=) c.930A>G (p.Pro310=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620344A>T | CA517924122 | COL4A5 | c.2595A>T (p.Pro865=) n.2051A>T c.2271A>T (p.Pro757=) c.168A>T (p.Pro56=) c.2610A>T (p.Pro870=) c.930A>T (p.Pro310=) | |
X | g.108620345G>A | CA413851429 | COL4A5 | c.2596G>A (p.Gly866Arg) n.2052G>A c.2272G>A (p.Gly758Arg) c.169G>A (p.Gly57Arg) c.2611G>A (p.Gly871Arg) c.931G>A (p.Gly311Arg) | |
X | g.108620345G>C | CA413851430 | COL4A5 | c.2596G>C (p.Gly866Arg) n.2052G>C c.2272G>C (p.Gly758Arg) c.169G>C (p.Gly57Arg) c.2611G>C (p.Gly871Arg) c.931G>C (p.Gly311Arg) | |
X | g.108620345G>T | CA413851432 | COL4A5 | c.2596G>T (p.Gly866Trp) n.2052G>T c.2272G>T (p.Gly758Trp) c.169G>T (p.Gly57Trp) c.2611G>T (p.Gly871Trp) c.931G>T (p.Gly311Trp) | COSMIC |
X | g.108620346G>A | CA258717 | COL4A5 | c.2597G>A (p.Gly866Glu) n.2053G>A c.2273G>A (p.Gly758Glu) c.170G>A (p.Gly57Glu) c.2612G>A (p.Gly871Glu) c.932G>A (p.Gly311Glu) | ClinVar dbSNP |
X | g.108620346G>C | CA413851438 | COL4A5 | c.2597G>C (p.Gly866Ala) n.2053G>C c.2273G>C (p.Gly758Ala) c.170G>C (p.Gly57Ala) c.2612G>C (p.Gly871Ala) c.932G>C (p.Gly311Ala) | |
X | g.108620346G= | CA2450695964 | COL4A5 | c.2597G= (p.Gly866=) n.2053G= c.2273G= (p.Gly758=) c.170G= (p.Gly57=) c.2612G= (p.Gly871=) c.932G= (p.Gly311=) | |
X | g.108620346G>T | CA413851435 | COL4A5 | c.2597G>T (p.Gly866Val) n.2053G>T c.2273G>T (p.Gly758Val) c.170G>T (p.Gly57Val) c.2612G>T (p.Gly871Val) c.932G>T (p.Gly311Val) | COSMIC COSMIC |
X | g.108620347G>A | CA517924127 | COL4A5 | c.2598G>A (p.Gly866=) n.2054G>A c.2274G>A (p.Gly758=) c.171G>A (p.Gly57=) c.2613G>A (p.Gly871=) c.933G>A (p.Gly311=) | |
X | g.108620347G>C | CA10488950 | COL4A5 | c.2598G>C (p.Gly866=) n.2054G>C c.2274G>C (p.Gly758=) c.171G>C (p.Gly57=) c.2613G>C (p.Gly871=) c.933G>C (p.Gly311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620347G= | CA2450695965 | COL4A5 | c.2598G= (p.Gly866=) n.2054G= c.2274G= (p.Gly758=) c.171G= (p.Gly57=) c.2613G= (p.Gly871=) c.933G= (p.Gly311=) | |
X | g.108620347G>T | CA517924128 | COL4A5 | c.2598G>T (p.Gly866=) n.2054G>T c.2274G>T (p.Gly758=) c.171G>T (p.Gly57=) c.2613G>T (p.Gly871=) c.933G>T (p.Gly311=) | |
X | g.108620348A>C | CA413851439 | COL4A5 | c.2599A>C (p.Ile867Leu) n.2055A>C c.2275A>C (p.Ile759Leu) c.172A>C (p.Ile58Leu) c.2614A>C (p.Ile872Leu) c.934A>C (p.Ile312Leu) | |
X | g.108620348A>G | CA413851440 | COL4A5 | c.2599A>G (p.Ile867Val) n.2055A>G c.2275A>G (p.Ile759Val) c.172A>G (p.Ile58Val) c.2614A>G (p.Ile872Val) c.934A>G (p.Ile312Val) | |
X | g.108620348A>T | CA413851442 | COL4A5 | c.2599A>T (p.Ile867Phe) n.2055A>T c.2275A>T (p.Ile759Phe) c.172A>T (p.Ile58Phe) c.2614A>T (p.Ile872Phe) c.934A>T (p.Ile312Phe) | |
X | g.108620349T>A | CA413851443 | COL4A5 | c.2600T>A (p.Ile867Asn) n.2056T>A c.2276T>A (p.Ile759Asn) c.173T>A (p.Ile58Asn) c.2615T>A (p.Ile872Asn) c.935T>A (p.Ile312Asn) | |
X | g.108620349T>C | CA10488951 | COL4A5 | c.2600T>C (p.Ile867Thr) n.2056T>C c.2276T>C (p.Ile759Thr) c.173T>C (p.Ile58Thr) c.2615T>C (p.Ile872Thr) c.935T>C (p.Ile312Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108620349T>G | CA413851446 | COL4A5 | c.2600T>G (p.Ile867Ser) n.2056T>G c.2276T>G (p.Ile759Ser) c.173T>G (p.Ile58Ser) c.2615T>G (p.Ile872Ser) c.935T>G (p.Ile312Ser) | |
X | g.108620349T= | CA2450695966 | COL4A5 | c.2600T= (p.Ile867=) n.2056T= c.2276T= (p.Ile759=) c.173T= (p.Ile58=) c.2615T= (p.Ile872=) c.935T= (p.Ile312=) | |
X | g.108620349dup | CA2739290539 | COL4A5 | c.2600dup (p.Gly869ArgfsTer29) n.2056dup c.2276dup (p.Gly761ArgfsTer29) c.173dup (p.Gly60ArgfsTer29) c.2615dup (p.Gly874ArgfsTer29) c.935dup (p.Gly314ArgfsTer29) | |
X | g.108620349_108620350delinsTC | CA2450695967 | COL4A5 | c.2600_2601delinsTC (p.Ile867=) n.2056_2057delinsTC c.2276_2277delinsTC (p.Ile759=) c.173_174delinsTC (p.Ile58=) c.2615_2616delinsTC (p.Ile872=) c.935_936delinsTC (p.Ile312=) | |
X | g.108620350C>A | CA517924135 | COL4A5 | c.2601C>A (p.Ile867=) n.2057C>A c.2277C>A (p.Ile759=) c.174C>A (p.Ile58=) c.2616C>A (p.Ile872=) c.936C>A (p.Ile312=) | |
X | g.108620350C>G | CA413851448 | COL4A5 | c.2601C>G (p.Ile867Met) n.2057C>G c.2277C>G (p.Ile759Met) c.174C>G (p.Ile58Met) c.2616C>G (p.Ile872Met) c.936C>G (p.Ile312Met) | gnomAD v4 |
X | g.108620350C>T | CA517924136 | COL4A5 | c.2601C>T (p.Ile867=) n.2057C>T c.2277C>T (p.Ile759=) c.174C>T (p.Ile58=) c.2616C>T (p.Ile872=) c.936C>T (p.Ile312=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108620353del | CA658656866 | COL4A5 | c.2604del (p.Gly869GlufsTer6) n.2060del c.2280del (p.Gly761GlufsTer6) c.177del (p.Gly60GlufsTer6) c.2619del (p.Gly874GlufsTer6) c.939del (p.Gly314GlufsTer6) | ClinVar dbSNP |
X | g.108620351C>A | CA413851451 | COL4A5 | c.2602C>A (p.Pro868Thr) n.2058C>A c.2278C>A (p.Pro760Thr) c.175C>A (p.Pro59Thr) c.2617C>A (p.Pro873Thr) c.937C>A (p.Pro313Thr) | |
X | g.108620351C>G | CA413851452 | COL4A5 | c.2602C>G (p.Pro868Ala) n.2058C>G c.2278C>G (p.Pro760Ala) c.175C>G (p.Pro59Ala) c.2617C>G (p.Pro873Ala) c.937C>G (p.Pro313Ala) | dbSNP |
X | g.108620351C>T | CA413851455 | COL4A5 | c.2602C>T (p.Pro868Ser) n.2058C>T c.2278C>T (p.Pro760Ser) c.175C>T (p.Pro59Ser) c.2617C>T (p.Pro873Ser) c.937C>T (p.Pro313Ser) | |
X | g.108620352C>A | CA413851457 | COL4A5 | c.2603C>A (p.Pro868His) n.2059C>A c.2279C>A (p.Pro760His) c.176C>A (p.Pro59His) c.2618C>A (p.Pro873His) c.938C>A (p.Pro313His) | |
X | g.108620352C>G | CA413851458 | COL4A5 | c.2603C>G (p.Pro868Arg) n.2059C>G c.2279C>G (p.Pro760Arg) c.176C>G (p.Pro59Arg) c.2618C>G (p.Pro873Arg) c.938C>G (p.Pro313Arg) | |
X | g.108620352C>T | CA413851459 | COL4A5 | c.2603C>T (p.Pro868Leu) n.2059C>T c.2279C>T (p.Pro760Leu) c.176C>T (p.Pro59Leu) c.2618C>T (p.Pro873Leu) c.938C>T (p.Pro313Leu) | |
X | g.108620353C>A | CA517924144 | COL4A5 | c.2604C>A (p.Pro868=) n.2060C>A c.2280C>A (p.Pro760=) c.177C>A (p.Pro59=) c.2619C>A (p.Pro873=) c.939C>A (p.Pro313=) | |
X | g.108620353C= | CA2450695968 | COL4A5 | c.2604C= (p.Pro868=) n.2060C= c.2280C= (p.Pro760=) c.177C= (p.Pro59=) c.2619C= (p.Pro873=) c.939C= (p.Pro313=) | |
X | g.108620353C>G | CA334049054 | COL4A5 | c.2604C>G (p.Pro868=) n.2060C>G c.2280C>G (p.Pro760=) c.177C>G (p.Pro59=) c.2619C>G (p.Pro873=) c.939C>G (p.Pro313=) | ClinVar dbSNP gnomAD v4 |
X | g.108620353C>T | CA334049071 | COL4A5 | c.2604C>T (p.Pro868=) n.2060C>T c.2280C>T (p.Pro760=) c.177C>T (p.Pro59=) c.2619C>T (p.Pro873=) c.939C>T (p.Pro313=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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) | ClinVar 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=) | ClinVar |
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=) | ClinVar |
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=) | |
X | g.108620366C>A | CA413851507 | COL4A5 | c.2617C>A (p.Pro873Thr) n.2073C>A c.2293C>A (p.Pro765Thr) c.190C>A (p.Pro64Thr) c.2632C>A (p.Pro878Thr) c.952C>A (p.Pro318Thr) | |
X | g.108620366C>G | CA413851509 | COL4A5 | c.2617C>G (p.Pro873Ala) n.2073C>G c.2293C>G (p.Pro765Ala) c.190C>G (p.Pro64Ala) c.2632C>G (p.Pro878Ala) c.952C>G (p.Pro318Ala) | |
X | g.108620366C>T | CA413851511 | COL4A5 | c.2617C>T (p.Pro873Ser) n.2073C>T c.2293C>T (p.Pro765Ser) c.190C>T (p.Pro64Ser) c.2632C>T (p.Pro878Ser) c.952C>T (p.Pro318Ser) | COSMIC |
X | g.108620367C>A | CA413851514 | COL4A5 | c.2618C>A (p.Pro873His) n.2074C>A c.2294C>A (p.Pro765His) c.191C>A (p.Pro64His) c.2633C>A (p.Pro878His) c.953C>A (p.Pro318His) | |
X | g.108620367C>G | CA413851515 | COL4A5 | c.2618C>G (p.Pro873Arg) n.2074C>G c.2294C>G (p.Pro765Arg) c.191C>G (p.Pro64Arg) c.2633C>G (p.Pro878Arg) c.953C>G (p.Pro318Arg) | |
X | g.108620367C>T | CA413851517 | COL4A5 | c.2618C>T (p.Pro873Leu) n.2074C>T c.2294C>T (p.Pro765Leu) c.191C>T (p.Pro64Leu) c.2633C>T (p.Pro878Leu) c.953C>T (p.Pro318Leu) | |
X | g.108620368T>A | CA517924178 | COL4A5 | c.2619T>A (p.Pro873=) n.2075T>A c.2295T>A (p.Pro765=) c.192T>A (p.Pro64=) c.2634T>A (p.Pro878=) c.954T>A (p.Pro318=) | |
X | g.108620368T>C | CA517924179 | COL4A5 | c.2619T>C (p.Pro873=) n.2075T>C c.2295T>C (p.Pro765=) c.192T>C (p.Pro64=) c.2634T>C (p.Pro878=) c.954T>C (p.Pro318=) | |
X | g.108620368T>G | CA517924180 | COL4A5 | c.2619T>G (p.Pro873=) n.2075T>G c.2295T>G (p.Pro765=) c.192T>G (p.Pro64=) c.2634T>G (p.Pro878=) c.954T>G (p.Pro318=) | |
X | g.108620369A= | CA2450695975 | COL4A5 | c.2620A= (p.Ile874=) n.2076A= c.2296A= (p.Ile766=) c.193A= (p.Ile65=) c.2635A= (p.Ile879=) c.955A= (p.Ile319=) | |
X | g.108620369A>C | CA413851520 | COL4A5 | c.2620A>C (p.Ile874Leu) n.2076A>C c.2296A>C (p.Ile766Leu) c.193A>C (p.Ile65Leu) c.2635A>C (p.Ile879Leu) c.955A>C (p.Ile319Leu) | |
X | g.108620369A>G | CA413851521 | COL4A5 | c.2620A>G (p.Ile874Val) n.2076A>G c.2296A>G (p.Ile766Val) c.193A>G (p.Ile65Val) c.2635A>G (p.Ile879Val) c.955A>G (p.Ile319Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108620369A>T | CA413851523 | COL4A5 | c.2620A>T (p.Ile874Leu) n.2076A>T c.2296A>T (p.Ile766Leu) c.193A>T (p.Ile65Leu) c.2635A>T (p.Ile879Leu) c.955A>T (p.Ile319Leu) | |
X | g.108620370T>A | CA413851529 | COL4A5 | c.2621T>A (p.Ile874Lys) n.2077T>A c.2297T>A (p.Ile766Lys) c.194T>A (p.Ile65Lys) c.2636T>A (p.Ile879Lys) c.956T>A (p.Ile319Lys) | |
X | g.108620370T>C | CA413851527 | COL4A5 | c.2621T>C (p.Ile874Thr) n.2077T>C c.2297T>C (p.Ile766Thr) c.194T>C (p.Ile65Thr) c.2636T>C (p.Ile879Thr) c.956T>C (p.Ile319Thr) | |
X | g.108620370T>G | CA413851526 | COL4A5 | c.2621T>G (p.Ile874Arg) n.2077T>G c.2297T>G (p.Ile766Arg) c.194T>G (p.Ile65Arg) c.2636T>G (p.Ile879Arg) c.956T>G (p.Ile319Arg) | |
X | g.108620371A>C | CA517924181 | COL4A5 | c.2622A>C (p.Ile874=) n.2078A>C c.2298A>C (p.Ile766=) c.195A>C (p.Ile65=) c.2637A>C (p.Ile879=) c.957A>C (p.Ile319=) | |
X | g.108620371A>G | CA413851531 | COL4A5 | c.2622A>G (p.Ile874Met) n.2078A>G c.2298A>G (p.Ile766Met) c.195A>G (p.Ile65Met) c.2637A>G (p.Ile879Met) c.957A>G (p.Ile319Met) | |
X | g.108620371A>T | CA517924182 | COL4A5 | c.2622A>T (p.Ile874=) n.2078A>T c.2298A>T (p.Ile766=) c.195A>T (p.Ile65=) c.2637A>T (p.Ile879=) c.957A>T (p.Ile319=) | |
X | g.108620372G>A | CA413851534 | COL4A5 | c.2623G>A (p.Gly875Arg) n.2079G>A c.2299G>A (p.Gly767Arg) c.196G>A (p.Gly66Arg) c.2638G>A (p.Gly880Arg) c.958G>A (p.Gly320Arg) | |
X | g.108620372G>C | CA261079 | COL4A5 | c.2623G>C (p.Gly875Arg) n.2079G>C c.2299G>C (p.Gly767Arg) c.196G>C (p.Gly66Arg) c.2638G>C (p.Gly880Arg) c.958G>C (p.Gly320Arg) | dbSNP |
X | g.108620372G= | CA2450695976 | COL4A5 | c.2623G= (p.Gly875=) n.2079G= c.2299G= (p.Gly767=) c.196G= (p.Gly66=) c.2638G= (p.Gly880=) c.958G= (p.Gly320=) | |
X | g.108620372G>T | CA413851536 | COL4A5 | c.2623G>T (p.Gly875Ter) n.2079G>T c.2299G>T (p.Gly767Ter) c.196G>T (p.Gly66Ter) c.2638G>T (p.Gly880Ter) c.958G>T (p.Gly320Ter) | |
X | g.108620373G>A | CA258724 | COL4A5 | c.2624G>A (p.Gly875Glu) n.2080G>A c.2300G>A (p.Gly767Glu) c.197G>A (p.Gly66Glu) c.2639G>A (p.Gly880Glu) c.959G>A (p.Gly320Glu) | ClinVar dbSNP |
X | g.108620373G>C | CA413851539 | COL4A5 | c.2624G>C (p.Gly875Ala) n.2080G>C c.2300G>C (p.Gly767Ala) c.197G>C (p.Gly66Ala) c.2639G>C (p.Gly880Ala) c.959G>C (p.Gly320Ala) | |
X | g.108620373G= | CA2450695977 | COL4A5 | c.2624G= (p.Gly875=) n.2080G= c.2300G= (p.Gly767=) c.197G= (p.Gly66=) c.2639G= (p.Gly880=) c.959G= (p.Gly320=) | |
X | g.108620373G>T | CA413851541 | COL4A5 | c.2624G>T (p.Gly875Val) n.2080G>T c.2300G>T (p.Gly767Val) c.197G>T (p.Gly66Val) c.2639G>T (p.Gly880Val) c.959G>T (p.Gly320Val) | |
X | g.108620373_108620374delinsGA | CA2450695978 | COL4A5 | c.2624_2625delinsGA (p.Gly875=) n.2080_2081delinsGA c.2300_2301delinsGA (p.Gly767=) c.197_198delinsGA (p.Gly66=) c.2639_2640delinsGA (p.Gly880=) c.959_960delinsGA (p.Gly320=) | |
X | g.108620374del | CA258727 | COL4A5 | c.2625del (p.Pro876LeufsTer25) n.2081del c.2301del (p.Pro768LeufsTer25) c.198del (p.Pro67LeufsTer25) c.2640del (p.Pro881LeufsTer25) c.960del (p.Pro321LeufsTer25) | dbSNP |
X | g.108620374A= | CA2580701031 | COL4A5 | c.2625A= (p.Gly875=) n.2081A= c.2301A= (p.Gly767=) c.198A= (p.Gly66=) c.2640A= (p.Gly880=) c.960A= (p.Gly320=) | |
X | g.108620374A>C | CA517924186 | COL4A5 | c.2625A>C (p.Gly875=) n.2081A>C c.2301A>C (p.Gly767=) c.198A>C (p.Gly66=) c.2640A>C (p.Gly880=) c.960A>C (p.Gly320=) | |
X | g.108620374A>G | CA517924187 | COL4A5 | c.2625A>G (p.Gly875=) n.2081A>G c.2301A>G (p.Gly767=) c.198A>G (p.Gly66=) c.2640A>G (p.Gly880=) c.960A>G (p.Gly320=) | |
X | g.108620374A>T | CA517924188 | COL4A5 | c.2625A>T (p.Gly875=) n.2081A>T c.2301A>T (p.Gly767=) c.198A>T (p.Gly66=) c.2640A>T (p.Gly880=) c.960A>T (p.Gly320=) | |
X | g.108620375C>A | CA413851545 | COL4A5 | c.2626C>A (p.Pro876Thr) n.2082C>A c.2302C>A (p.Pro768Thr) c.199C>A (p.Pro67Thr) c.2641C>A (p.Pro881Thr) c.961C>A (p.Pro321Thr) | |
X | g.108620375C= | CA2450695979 | COL4A5 | c.2626C= (p.Pro876=) n.2082C= c.2302C= (p.Pro768=) c.199C= (p.Pro67=) c.2641C= (p.Pro881=) c.961C= (p.Pro321=) | |
X | g.108620375C>G | CA413851547 | COL4A5 | c.2626C>G (p.Pro876Ala) n.2082C>G c.2302C>G (p.Pro768Ala) c.199C>G (p.Pro67Ala) c.2641C>G (p.Pro881Ala) c.961C>G (p.Pro321Ala) | |
X | g.108620375C>T | CA413851549 | COL4A5 | c.2626C>T (p.Pro876Ser) n.2082C>T c.2302C>T (p.Pro768Ser) c.199C>T (p.Pro67Ser) c.2641C>T (p.Pro881Ser) c.961C>T (p.Pro321Ser) | dbSNP |
X | g.108620376C>A | CA413851555 | COL4A5 | c.2627C>A (p.Pro876His) n.2083C>A c.2303C>A (p.Pro768His) c.200C>A (p.Pro67His) c.2642C>A (p.Pro881His) c.962C>A (p.Pro321His) | dbSNP |
X | g.108620376C= | CA2450695980 | COL4A5 | c.2627C= (p.Pro876=) n.2083C= c.2303C= (p.Pro768=) c.200C= (p.Pro67=) c.2642C= (p.Pro881=) c.962C= (p.Pro321=) | |
X | g.108620376C>G | CA413851553 | COL4A5 | c.2627C>G (p.Pro876Arg) n.2083C>G c.2303C>G (p.Pro768Arg) c.200C>G (p.Pro67Arg) c.2642C>G (p.Pro881Arg) c.962C>G (p.Pro321Arg) | |
X | g.108620376C>T | CA413851551 | COL4A5 | c.2627C>T (p.Pro876Leu) n.2083C>T c.2303C>T (p.Pro768Leu) c.200C>T (p.Pro67Leu) c.2642C>T (p.Pro881Leu) c.962C>T (p.Pro321Leu) | gnomAD v4 |
X | g.108620377T>A | CA517924193 | COL4A5 | c.2628T>A (p.Pro876=) n.2084T>A c.2304T>A (p.Pro768=) c.201T>A (p.Pro67=) c.2643T>A (p.Pro881=) c.963T>A (p.Pro321=) | |
X | g.108620377T>C | CA517924194 | COL4A5 | c.2628T>C (p.Pro876=) n.2084T>C c.2304T>C (p.Pro768=) c.201T>C (p.Pro67=) c.2643T>C (p.Pro881=) c.963T>C (p.Pro321=) | gnomAD v4 |
X | g.108620377T>G | CA517924195 | COL4A5 | c.2628T>G (p.Pro876=) n.2084T>G c.2304T>G (p.Pro768=) c.201T>G (p.Pro67=) c.2643T>G (p.Pro881=) c.963T>G (p.Pro321=) | |
X | g.108620378C>A | CA413851557 | COL4A5 | c.2629C>A (p.Pro877Thr) n.2085C>A c.2305C>A (p.Pro769Thr) c.202C>A (p.Pro68Thr) c.2644C>A (p.Pro882Thr) c.964C>A (p.Pro322Thr) | |
X | g.108620378C>G | CA413851559 | COL4A5 | c.2629C>G (p.Pro877Ala) n.2085C>G c.2305C>G (p.Pro769Ala) c.202C>G (p.Pro68Ala) c.2644C>G (p.Pro882Ala) c.964C>G (p.Pro322Ala) | |
X | g.108620378C>T | CA413851561 | COL4A5 | c.2629C>T (p.Pro877Ser) n.2085C>T c.2305C>T (p.Pro769Ser) c.202C>T (p.Pro68Ser) c.2644C>T (p.Pro882Ser) c.964C>T (p.Pro322Ser) | |
X | g.108620378_108620379del | CA2579676516 | COL4A5 | c.2629_2630del (p.Pro877ArgfsTer20) n.2085_2086del c.2305_2306del (p.Pro769ArgfsTer20) c.202_203del (p.Pro68ArgfsTer20) c.2644_2645del (p.Pro882ArgfsTer20) c.964_965del (p.Pro322ArgfsTer20) | |
X | g.108620379del | CA2572030320 | COL4A5 | c.2630del (p.Pro877GlnfsTer24) n.2086del c.2306del (p.Pro769GlnfsTer24) c.203del (p.Pro68GlnfsTer24) c.2645del (p.Pro882GlnfsTer24) c.965del (p.Pro322GlnfsTer24) | gnomAD v4 |
X | g.108620379C>A | CA413851563 | COL4A5 | c.2630C>A (p.Pro877Gln) n.2086C>A c.2306C>A (p.Pro769Gln) c.203C>A (p.Pro68Gln) c.2645C>A (p.Pro882Gln) c.965C>A (p.Pro322Gln) | |
X | g.108620379C>G | CA413851566 | COL4A5 | c.2630C>G (p.Pro877Arg) n.2086C>G c.2306C>G (p.Pro769Arg) c.203C>G (p.Pro68Arg) c.2645C>G (p.Pro882Arg) c.965C>G (p.Pro322Arg) | |
X | g.108620379C>T | CA413851567 | COL4A5 | c.2630C>T (p.Pro877Leu) n.2086C>T c.2306C>T (p.Pro769Leu) c.203C>T (p.Pro68Leu) c.2645C>T (p.Pro882Leu) c.965C>T (p.Pro322Leu) | |
X | g.108620380A= | CA2450695981 | COL4A5 | c.2631A= (p.Pro877=) n.2087A= c.2307A= (p.Pro769=) c.204A= (p.Pro68=) c.2646A= (p.Pro882=) c.966A= (p.Pro322=) | |
X | g.108620380A>C | CA517924199 | COL4A5 | c.2631A>C (p.Pro877=) n.2087A>C c.2307A>C (p.Pro769=) c.204A>C (p.Pro68=) c.2646A>C (p.Pro882=) c.966A>C (p.Pro322=) | |
X | g.108620380A>G | CA10488953 | COL4A5 | c.2631A>G (p.Pro877=) n.2087A>G c.2307A>G (p.Pro769=) c.204A>G (p.Pro68=) c.2646A>G (p.Pro882=) c.966A>G (p.Pro322=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108620380A>T | CA517924201 | COL4A5 | c.2631A>T (p.Pro877=) n.2087A>T c.2307A>T (p.Pro769=) c.204A>T (p.Pro68=) c.2646A>T (p.Pro882=) c.966A>T (p.Pro322=) | |
X | g.108620381G>A | CA413851569 | COL4A5 | c.2632G>A (p.Gly878Arg) n.2088G>A c.2308G>A (p.Gly770Arg) c.205G>A (p.Gly69Arg) c.2647G>A (p.Gly883Arg) c.967G>A (p.Gly323Arg) | |
X | g.108620381G>C | CA413851571 | COL4A5 | c.2632G>C (p.Gly878Arg) n.2088G>C c.2308G>C (p.Gly770Arg) c.205G>C (p.Gly69Arg) c.2647G>C (p.Gly883Arg) c.967G>C (p.Gly323Arg) | |
X | g.108620381G= | CA2450695982 | COL4A5 | c.2632G= (p.Gly878=) n.2088G= c.2308G= (p.Gly770=) c.205G= (p.Gly69=) c.2647G= (p.Gly883=) c.967G= (p.Gly323=) | |
X | g.108620381G>T | CA413851573 | COL4A5 | c.2632G>T (p.Gly878Ter) n.2088G>T c.2308G>T (p.Gly770Ter) c.205G>T (p.Gly69Ter) c.2647G>T (p.Gly883Ter) c.967G>T (p.Gly323Ter) | |
X | g.108620385_108620420del | CA2695235219 | COL4A5 | c.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) | |
X | g.108620382G>A | CA413851575 | COL4A5 | c.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 |
X | g.108620382G>C | CA413851577 | COL4A5 | c.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) | |
X | g.108620382G= | CA2450695983 | COL4A5 | c.2633G= (p.Gly878=) n.2089G= c.2309G= (p.Gly770=) c.206G= (p.Gly69=) c.2648G= (p.Gly883=) c.968G= (p.Gly323=) | |
X | g.108620382G>T | CA258728 | COL4A5 | c.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 |
X | g.108620383A>C | CA517924205 | COL4A5 | c.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=) | |
X | g.108620383A>G | CA517924206 | COL4A5 | c.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=) | |
X | g.108620383A>T | CA517924208 | COL4A5 | c.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=) | |
X | g.108620384T>A | CA413851583 | COL4A5 | c.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) | |
X | g.108620384T>C | CA413851584 | COL4A5 | c.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) | |
X | g.108620384T>G | CA413851581 | COL4A5 | c.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) | |
X | g.108620385C>A | CA413851589 | COL4A5 | c.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) | |
X | g.108620385C>G | CA413851586 | COL4A5 | c.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) | |
X | g.108620385C>T | CA413851588 | COL4A5 | c.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 |
X | g.108620386_108620387del | CA2580100192 | COL4A5 | c.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 |
X | g.108620386A>C | CA517924215 | COL4A5 | c.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=) | |
X | g.108620386A>G | CA517924217 | COL4A5 | c.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 |
X | g.108620386A>T | CA517924216 | COL4A5 | c.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=) | |
X | g.108620387C>A | CA413851591 | COL4A5 | c.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 |
X | g.108620387C= | CA2450695984 | COL4A5 | c.2638C= (p.Pro880=) n.2094C= c.2314C= (p.Pro772=) c.211C= (p.Pro71=) c.2653C= (p.Pro885=) c.973C= (p.Pro325=) | |
X | g.108620387C>G | CA413851592 | COL4A5 | c.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 |
X | g.108620387C>T | CA413851594 | COL4A5 | c.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) | |
X | g.108620388C>A | CA413851597 | COL4A5 | c.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) | |
X | g.108620388C>G | CA413851598 | COL4A5 | c.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 |
X | g.108620388C>T | CA413851600 | COL4A5 | c.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) | |
X | g.108620389A= | CA2450695985 | COL4A5 | c.2640A= (p.Pro880=) n.2096A= c.2316A= (p.Pro772=) c.213A= (p.Pro71=) c.2655A= (p.Pro885=) c.975A= (p.Pro325=) | |
X | g.108620389A>C | CA517924220 | COL4A5 | c.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 |
X | g.108620389A>G | CA517924219 | COL4A5 | c.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=) | |
X | g.108620389A>T | CA10488954 | COL4A5 | c.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 |
X | g.108620389_108620390delinsAG | CA2450695986 | COL4A5 | c.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=) | |
X | g.108620390G>A | CA413851603 | COL4A5 | c.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 |
X | g.108620390G>C | CA413851605 | COL4A5 | c.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) | |
X | g.108620390G>T | CA413851607 | COL4A5 | c.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) | |
X | g.108620392del | CA258719 | COL4A5 | c.2643del (p.Leu882PhefsTer19) n.2099del c.2319del (p.Leu774PhefsTer19) c.216del (p.Leu73PhefsTer19) c.2658del (p.Leu887PhefsTer19) c.978del (p.Leu327PhefsTer19) | dbSNP |
X | g.108620391G>A | CA413851614 | COL4A5 | c.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) | |
X | g.108620391G>C | CA413851612 | COL4A5 | c.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) | |
X | g.108620391G= | CA2450695987 | COL4A5 | c.2642G= (p.Gly881=) n.2098G= c.2318G= (p.Gly773=) c.215G= (p.Gly72=) c.2657G= (p.Gly886=) c.977G= (p.Gly326=) | |
X | g.108620391G>T | CA413851610 | COL4A5 | c.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 |
X | g.108620392G>A | CA517924229 | COL4A5 | c.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 |
X | g.108620392G>C | CA517924227 | COL4A5 | c.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=) | |
X | g.108620392G>T | CA517924228 | COL4A5 | c.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=) | |
X | g.108620393C>A | CA413851616 | COL4A5 | c.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 |
X | g.108620393C= | CA2450695988 | COL4A5 | c.2644C= (p.Leu882=) n.2100C= c.2320C= (p.Leu774=) c.217C= (p.Leu73=) c.2659C= (p.Leu887=) c.979C= (p.Leu327=) | |
X | g.108620393C>G | CA413851618 | COL4A5 | c.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) | |
X | g.108620393C>T | CA413851620 | COL4A5 | c.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 |
X | g.108620394T>A | CA413851622 | COL4A5 | c.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) | |
X | g.108620394T>C | CA413851624 | COL4A5 | c.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) | |
X | g.108620394T>G | CA413851626 | COL4A5 | c.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) | |
X | g.108620395T>A | CA517924233 | COL4A5 | c.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=) | |
X | g.108620395T>C | CA517924234 | COL4A5 | c.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=) | |
X | g.108620395T>G | CA517924235 | COL4A5 | c.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=) | |
X | g.108620396C>A | CA413851628 | COL4A5 | c.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) | |
X | g.108620396C>G | CA413851630 | COL4A5 | c.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) | |
X | g.108620396C>T | CA413851632 | COL4A5 | c.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) | |
X | g.108620397C>A | CA413851634 | COL4A5 | c.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) | |
X | g.108620397C>G | CA413851635 | COL4A5 | c.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) | |
X | g.108620397C>T | CA413851636 | COL4A5 | c.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) | |
X | g.108620398A>C | CA517924236 | COL4A5 | c.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=) | |
X | g.108620398A>G | CA517924237 | COL4A5 | c.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=) | |
X | g.108620398A>T | CA517924238 | COL4A5 | c.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=) | |
X | g.108620399G>A | CA413851642 | COL4A5 | c.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) | |
X | g.108620399G>C | CA413851640 | COL4A5 | c.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) | |
X | g.108620399G>T | CA413851638 | COL4A5 | c.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) | |
X | g.108620400G>A | CA413851644 | COL4A5 | c.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) | |
X | g.108620400G>C | CA413851648 | COL4A5 | c.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 |
X | g.108620400G>T | CA413851646 | COL4A5 | c.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) | |
X | g.108620401A>C | CA517924241 | COL4A5 | c.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=) | |
X | g.108620401A>G | CA517924242 | COL4A5 | c.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=) | |
X | g.108620401A>T | CA517924243 | COL4A5 | c.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=) | |
X | g.108620404dup | CA2573159088 | COL4A5 | c.2655dup (p.Ala886SerfsTer12) n.2111dup c.2331dup (p.Ala778SerfsTer12) c.228dup (p.Ala77SerfsTer12) c.2670dup (p.Ala891SerfsTer12) c.990dup (p.Ala331SerfsTer12) | ClinVar dbSNP |
X | g.108620402A= | CA2450695989 | COL4A5 | c.2653A= (p.Lys885=) n.2109A= c.2329A= (p.Lys777=) c.226A= (p.Lys76=) c.2668A= (p.Lys890=) c.988A= (p.Lys330=) | |
X | g.108620402A>C | CA413851650 | COL4A5 | c.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) | |
X | g.108620402A>G | CA413851651 | COL4A5 | c.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) | |
X | g.108620402A>T | CA413851653 | COL4A5 | c.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 |
X | g.108620403A>C | CA413851655 | COL4A5 | c.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) | |
X | g.108620403A>G | CA413851657 | COL4A5 | c.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) | |
X | g.108620403A>T | CA413851659 | COL4A5 | c.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) | |
X | g.108620404A>C | CA413851661 | COL4A5 | c.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) | |
X | g.108620404A>G | CA517924246 | COL4A5 | c.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=) | |
X | g.108620404A>T | CA413851664 | COL4A5 | c.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) | |
X | g.108620405G>A | CA413851666 | COL4A5 | c.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) | |
X | g.108620405G>C | CA413851668 | COL4A5 | c.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) | |
X | g.108620405G>T | CA413851670 | COL4A5 | c.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) | |
X | g.108620406C>A | CA413851675 | COL4A5 | c.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) | |
X | g.108620406C= | CA2450695990 | COL4A5 | c.2657C= (p.Ala886=) n.2113C= c.2333C= (p.Ala778=) c.230C= (p.Ala77=) c.2672C= (p.Ala891=) c.992C= (p.Ala331=) | |
X | g.108620406C>G | CA10488955 | COL4A5 | c.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 |
X | g.108620406C>T | CA413851672 | COL4A5 | c.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) | |
X | g.108620407del | CA2557888608 | COL4A5 | c.2658del (p.Gly887ValfsTer14) n.2114del c.2334del (p.Gly779ValfsTer14) c.231del (p.Gly78ValfsTer14) c.2673del (p.Gly892ValfsTer14) c.993del (p.Gly332ValfsTer14) | |
X | g.108620407A= | CA2450695991 | COL4A5 | c.2658A= (p.Ala886=) n.2114A= c.2334A= (p.Ala778=) c.231A= (p.Ala77=) c.2673A= (p.Ala891=) c.993A= (p.Ala331=) | |
X | g.108620407A>C | CA517924249 | COL4A5 | c.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 |
X | g.108620407A>G | CA517924247 | COL4A5 | c.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 |
X | g.108620407A>T | CA517924248 | COL4A5 | c.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=) | |
X | g.108620408G>A | CA413851677 | COL4A5 | c.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 |
X | g.108620408G>C | CA258731 | COL4A5 | c.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 |
X | g.108620408G= | CA2450695992 | COL4A5 | c.2659G= (p.Gly887=) n.2115G= c.2335G= (p.Gly779=) c.232G= (p.Gly78=) c.2674G= (p.Gly892=) c.994G= (p.Gly332=) | |
X | g.108620408G>T | CA413851681 | COL4A5 | c.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) | |
X | g.108620409G>A | CA413851683 | COL4A5 | c.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 |
X | g.108620409G>C | CA413851685 | COL4A5 | c.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) | |
X | g.108620409G= | CA2450695993 | COL4A5 | c.2660G= (p.Gly887=) n.2116G= c.2336G= (p.Gly779=) c.233G= (p.Gly78=) c.2675G= (p.Gly892=) c.995G= (p.Gly332=) | |
X | g.108620409G>T | CA258734 | COL4A5 | c.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 |
X | g.108620410T>A | CA517924252 | COL4A5 | c.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=) | |
X | g.108620410T>C | CA517924251 | COL4A5 | c.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=) | |
X | g.108620410T>G | CA517924250 | COL4A5 | c.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=) | |
X | g.108620411G>A | CA10488956 | COL4A5 | c.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 |
X | g.108620411G>C | CA413851689 | COL4A5 | c.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) | |
X | g.108620411G= | CA2450695994 | COL4A5 | c.2662G= (p.Ala888=) n.2118G= c.2338G= (p.Ala780=) c.235G= (p.Ala79=) c.2677G= (p.Ala893=) c.997G= (p.Ala333=) | |
X | g.108620411G>T | CA413851691 | COL4A5 | c.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 |
X | g.108620412C>A | CA413851693 | COL4A5 | c.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) | |
X | g.108620412C>G | CA413851695 | COL4A5 | c.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) | |
X | g.108620412C>T | CA413851696 | COL4A5 | c.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) | |
X | g.108620413C>A | CA517924253 | COL4A5 | c.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 |
X | g.108620413C>G | CA517924256 | COL4A5 | c.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=) | |
X | g.108620413C>T | CA517924255 | COL4A5 | c.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 |
X | g.108620415_108620416del | CA2579676517 | COL4A5 | c.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) | |
X | g.108620414T>A | CA413851702 | COL4A5 | c.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) | |
X | g.108620414T>C | CA413851700 | COL4A5 | c.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 |
X | g.108620414T>G | CA413851698 | COL4A5 | c.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) | |
X | g.108620415C>A | CA413851704 | COL4A5 | c.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) | |
X | g.108620415C= | CA2450695995 | COL4A5 | c.2666C= (p.Ser889=) n.2122C= c.2342C= (p.Ser781=) c.239C= (p.Ser80=) c.2681C= (p.Ser894=) c.1001C= (p.Ser334=) | |
X | g.108620415C>G | CA10488957 | COL4A5 | c.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 |
X | g.108620415C>T | CA413851706 | COL4A5 | c.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) | |
X | g.108620416T>A | CA517924259 | COL4A5 | c.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=) | |
X | g.108620416T>C | CA517924261 | COL4A5 | c.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 |
X | g.108620416T>G | CA517924262 | COL4A5 | c.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=) | |
X | g.108620416T= | CA2450695996 | COL4A5 | c.2667T= (p.Ser889=) n.2123T= c.2343T= (p.Ser781=) c.240T= (p.Ser80=) c.2682T= (p.Ser894=) c.1002T= (p.Ser334=) | |
X | g.108620417G>A | CA413851709 | COL4A5 | c.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 |
X | g.108620417G>C | CA413851713 | COL4A5 | c.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) | |
X | g.108620417G= | CA2450695997 | COL4A5 | c.2668G= (p.Gly890=) n.2124G= c.2344G= (p.Gly782=) c.241G= (p.Gly81=) c.2683G= (p.Gly895=) c.1003G= (p.Gly335=) | |
X | g.108620417G>T | CA413851711 | COL4A5 | c.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 |
X | g.108620418G>A | CA413851715 | COL4A5 | c.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) | |
X | g.108620418G>C | CA413851717 | COL4A5 | c.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) | |
X | g.108620418G>T | CA413851719 | COL4A5 | c.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 |
X | g.108620419A>C | CA517924266 | COL4A5 | c.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=) | |
X | g.108620419A>G | CA517924267 | COL4A5 | c.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=) | |
X | g.108620419A>T | CA517924268 | COL4A5 | c.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=) | |
X | g.108620420T>A | CA413851722 | COL4A5 | c.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) | |
X | g.108620420T>C | CA413851723 | COL4A5 | c.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) | |
X | g.108620420T>G | CA413851725 | COL4A5 | c.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) | |
X | g.108620421T>A | CA413851728 | COL4A5 | c.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) | |
X | g.108620421T>C | CA413851730 | COL4A5 | c.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) | |
X | g.108620421T>G | CA413851731 | COL4A5 | c.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) | |
X | g.108620422T>A | CA413851734 | COL4A5 | c.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) | |
X | g.108620422T>C | CA517924273 | COL4A5 | c.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=) | |
X | g.108620422T>G | CA413851735 | COL4A5 | c.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) | |
X | g.108620423C>A | CA413851741 | COL4A5 | c.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) | |
X | g.108620423C>G | CA413851740 | COL4A5 | c.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) | |
X | g.108620423C>T | CA413851738 | COL4A5 | c.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 |
X | g.108620424del | CA2579676518 | COL4A5 | c.2675del (p.Pro892GlnfsTer9) n.2131del c.2351del (p.Pro784GlnfsTer9) c.248del (p.Pro83GlnfsTer9) c.2690del (p.Pro897GlnfsTer9) c.1010del (p.Pro337GlnfsTer9) | |
X | g.108620424C>A | CA413851743 | COL4A5 | c.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 |
X | g.108620424C>G | CA413851745 | COL4A5 | c.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) | |
X | g.108620424C>T | CA413851747 | COL4A5 | c.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) | |
X | g.108620425A>C | CA517924275 | COL4A5 | c.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=) | |
X | g.108620425A>G | CA517924276 | COL4A5 | c.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 |
X | g.108620425A>T | CA517924277 | COL4A5 | c.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 |
X | g.108620426G>A | CA413851749 | COL4A5 | c.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 |
X | g.108620426G>C | CA413851751 | COL4A5 | c.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) | |
X | g.108620426G= | CA2450695998 | COL4A5 | c.2677G= (p.Gly893=) n.2133G= c.2353G= (p.Gly785=) c.250G= (p.Gly84=) c.2692G= (p.Gly898=) c.1012G= (p.Gly338=) | |
X | g.108620426G>T | CA413851753 | COL4A5 | c.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) | |
X | g.108620427G>A | CA413851756 | COL4A5 | c.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) | |
X | g.108620427G>C | CA413851757 | COL4A5 | c.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) | |
X | g.108620427G>T | CA413851759 | COL4A5 | c.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 |
X | g.108620428T>A | CA413851762 | COL4A5 | c.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) | |
X | g.108620428T>C | CA413851764 | COL4A5 | c.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) | |
X | g.108620428T>G | CA413851766 | COL4A5 | c.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) | |
X | g.108620429A= | CA2450695999 | COL4A5 | c.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=) | |
X | g.108620429A>G | CA869814020 | COL4A5 | c.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 |
X | g.108620430A= | CA2450696000 | COL4A5 | c.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=) | |
X | g.108620430_108620431insACCTAG | CA920430442 | COL4A5 | c.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 |
X | g.108620433del | CA2694440018 | COL4A5 | c.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 |
X | g.108620433_108620434delinsTG | CA2450696001 | COL4A5 | c.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) | |
X | g.108620434del | CA644063500 | COL4A5 | c.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 |
X | g.108620434G= | CA2450696002 | COL4A5 | c.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=) | |
X | g.108620434G>T | CA334049196 | COL4A5 | c.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 |
X | g.108620436_108620437insAATACAATATCAATATTAA | CA2838838886 | COL4A5 | c.2677+10_2677+11insAATACAATATCAATATTAA (n.2677+10_2677+11insAATACAATATCAATATTAA) n.2133+10_2133+11insAATACAATATCAATATTAA c.2353+10_2353+11insAATACAATATCAATATTAA (n.2353+10_2353+11insAATACAATATCAATATTAA) c.250+10_250+11insAATACAATATCAATATTAA (n.250+10_250+11insAATACAATATCAATATTAA) c.2692+10_2692+11insAATACAATATCAATATTAA (n.2692+10_2692+11insAATACAATATCAATATTAA) c.1012+10_1012+11insAATACAATATCAATATTAA (n.1012+10_1012+11insAATACAATATCAATATTAA) | |
X | g.108620437T>A | CA2694440019 | COL4A5 | c.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 |