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.108620349T>ACA413851443COL4A5c.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)
Xg.108620349T>CCA10488951COL4A5c.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
Xg.108620349T>GCA413851446COL4A5c.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)
Xg.108620349T=CA2450695966COL4A5c.2600T= (p.Ile867=)
n.2056T=
c.2276T= (p.Ile759=)
c.173T= (p.Ile58=)
c.2615T= (p.Ile872=)
c.935T= (p.Ile312=)
Xg.108620349dupCA2739290539COL4A5c.2600dup (p.Gly869ArgfsTer29)
n.2056dup
c.2276dup (p.Gly761ArgfsTer29)
c.173dup (p.Gly60ArgfsTer29)
c.2615dup (p.Gly874ArgfsTer29)
c.935dup (p.Gly314ArgfsTer29)
Xg.108620349_108620350delinsTCCA2450695967COL4A5c.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=)
Xg.108620350C>ACA517924135COL4A5c.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=)
Xg.108620350C>GCA413851448COL4A5c.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
Xg.108620350C>TCA517924136COL4A5c.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
Xg.108620353delCA658656866COL4A5c.2604del (p.Gly869GlufsTer6)
n.2060del
c.2280del (p.Gly761GlufsTer6)
c.177del (p.Gly60GlufsTer6)
c.2619del (p.Gly874GlufsTer6)
c.939del (p.Gly314GlufsTer6)
 ClinVar dbSNP
Xg.108620351C>ACA413851451COL4A5c.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)
Xg.108620351C>GCA413851452COL4A5c.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
Xg.108620351C>TCA413851455COL4A5c.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)
Xg.108620352C>ACA413851457COL4A5c.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)
Xg.108620352C>GCA413851458COL4A5c.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)
Xg.108620352C>TCA413851459COL4A5c.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)
Xg.108620353C>ACA517924144COL4A5c.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=)
Xg.108620353C=CA2450695968COL4A5c.2604C= (p.Pro868=)
n.2060C=
c.2280C= (p.Pro760=)
c.177C= (p.Pro59=)
c.2619C= (p.Pro873=)
c.939C= (p.Pro313=)
Xg.108620353C>GCA334049054COL4A5c.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
Xg.108620353C>TCA334049071COL4A5c.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
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=)
 ClinVar
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=)
 ClinVar
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=)
Xg.108620366C>ACA413851507COL4A5c.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)
Xg.108620366C>GCA413851509COL4A5c.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)
Xg.108620366C>TCA413851511COL4A5c.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
Xg.108620367C>ACA413851514COL4A5c.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)
Xg.108620367C>GCA413851515COL4A5c.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)
Xg.108620367C>TCA413851517COL4A5c.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)
Xg.108620368T>ACA517924178COL4A5c.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=)
Xg.108620368T>CCA517924179COL4A5c.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=)
Xg.108620368T>GCA517924180COL4A5c.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=)
Xg.108620369A=CA2450695975COL4A5c.2620A= (p.Ile874=)
n.2076A=
c.2296A= (p.Ile766=)
c.193A= (p.Ile65=)
c.2635A= (p.Ile879=)
c.955A= (p.Ile319=)
Xg.108620369A>CCA413851520COL4A5c.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)
Xg.108620369A>GCA413851521COL4A5c.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
Xg.108620369A>TCA413851523COL4A5c.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)
Xg.108620370T>ACA413851529COL4A5c.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)
Xg.108620370T>CCA413851527COL4A5c.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)
Xg.108620370T>GCA413851526COL4A5c.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)
Xg.108620371A>CCA517924181COL4A5c.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=)
Xg.108620371A>GCA413851531COL4A5c.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)
Xg.108620371A>TCA517924182COL4A5c.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=)
Xg.108620372G>ACA413851534COL4A5c.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)
Xg.108620372G>CCA261079COL4A5c.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
Xg.108620372G=CA2450695976COL4A5c.2623G= (p.Gly875=)
n.2079G=
c.2299G= (p.Gly767=)
c.196G= (p.Gly66=)
c.2638G= (p.Gly880=)
c.958G= (p.Gly320=)
Xg.108620372G>TCA413851536COL4A5c.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)
Xg.108620373G>ACA258724COL4A5c.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
Xg.108620373G>CCA413851539COL4A5c.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)
Xg.108620373G=CA2450695977COL4A5c.2624G= (p.Gly875=)
n.2080G=
c.2300G= (p.Gly767=)
c.197G= (p.Gly66=)
c.2639G= (p.Gly880=)
c.959G= (p.Gly320=)
Xg.108620373G>TCA413851541COL4A5c.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)
Xg.108620373_108620374delinsGACA2450695978COL4A5c.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=)
Xg.108620374delCA258727COL4A5c.2625del (p.Pro876LeufsTer25)
n.2081del
c.2301del (p.Pro768LeufsTer25)
c.198del (p.Pro67LeufsTer25)
c.2640del (p.Pro881LeufsTer25)
c.960del (p.Pro321LeufsTer25)
 dbSNP
Xg.108620374A=CA2580701031COL4A5c.2625A= (p.Gly875=)
n.2081A=
c.2301A= (p.Gly767=)
c.198A= (p.Gly66=)
c.2640A= (p.Gly880=)
c.960A= (p.Gly320=)
Xg.108620374A>CCA517924186COL4A5c.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=)
Xg.108620374A>GCA517924187COL4A5c.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=)
Xg.108620374A>TCA517924188COL4A5c.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=)
Xg.108620375C>ACA413851545COL4A5c.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)
Xg.108620375C=CA2450695979COL4A5c.2626C= (p.Pro876=)
n.2082C=
c.2302C= (p.Pro768=)
c.199C= (p.Pro67=)
c.2641C= (p.Pro881=)
c.961C= (p.Pro321=)
Xg.108620375C>GCA413851547COL4A5c.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)
Xg.108620375C>TCA413851549COL4A5c.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
Xg.108620376C>ACA413851555COL4A5c.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
Xg.108620376C=CA2450695980COL4A5c.2627C= (p.Pro876=)
n.2083C=
c.2303C= (p.Pro768=)
c.200C= (p.Pro67=)
c.2642C= (p.Pro881=)
c.962C= (p.Pro321=)
Xg.108620376C>GCA413851553COL4A5c.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)
Xg.108620376C>TCA413851551COL4A5c.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
Xg.108620377T>ACA517924193COL4A5c.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=)
Xg.108620377T>CCA517924194COL4A5c.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
Xg.108620377T>GCA517924195COL4A5c.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=)
Xg.108620378C>ACA413851557COL4A5c.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)
Xg.108620378C>GCA413851559COL4A5c.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)
Xg.108620378C>TCA413851561COL4A5c.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)
Xg.108620378_108620379delCA2579676516COL4A5c.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)
Xg.108620379delCA2572030320COL4A5c.2630del (p.Pro877GlnfsTer24)
n.2086del
c.2306del (p.Pro769GlnfsTer24)
c.203del (p.Pro68GlnfsTer24)
c.2645del (p.Pro882GlnfsTer24)
c.965del (p.Pro322GlnfsTer24)
 gnomAD v4
Xg.108620379C>ACA413851563COL4A5c.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)
Xg.108620379C>GCA413851566COL4A5c.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)
Xg.108620379C>TCA413851567COL4A5c.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)
Xg.108620380A=CA2450695981COL4A5c.2631A= (p.Pro877=)
n.2087A=
c.2307A= (p.Pro769=)
c.204A= (p.Pro68=)
c.2646A= (p.Pro882=)
c.966A= (p.Pro322=)
Xg.108620380A>CCA517924199COL4A5c.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=)
Xg.108620380A>GCA10488953COL4A5c.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
Xg.108620380A>TCA517924201COL4A5c.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=)
Xg.108620381G>ACA413851569COL4A5c.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)
Xg.108620381G>CCA413851571COL4A5c.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)
Xg.108620381G=CA2450695982COL4A5c.2632G= (p.Gly878=)
n.2088G=
c.2308G= (p.Gly770=)
c.205G= (p.Gly69=)
c.2647G= (p.Gly883=)
c.967G= (p.Gly323=)
Xg.108620381G>TCA413851573COL4A5c.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)
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

Number of alleles fetched