Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108625699_108625702delCA2694440522COL4A5c.3017-6_3017-3del (n.3017-6_3017-3del)
n.2473-6_2473-3del
c.250-6_250-3del
c.2693-6_2693-3del (n.2693-6_2693-3del)
c.590-6_590-3del (n.590-6_590-3del)
c.3032-6_3032-3del (n.3032-6_3032-3del)
c.1352-6_1352-3del (n.1352-6_1352-3del)
 gnomAD v4
Xg.108625700T>CCA2694440523COL4A5c.3017-5T>C (n.3017-5T>C)
n.2473-5T>C
c.250-5T>C
c.2693-5T>C (n.2693-5T>C)
c.590-5T>C (n.590-5T>C)
c.3032-5T>C (n.3032-5T>C)
c.1352-5T>C (n.1352-5T>C)
 gnomAD v4
Xg.108625700T>GCA2579676631COL4A5c.3017-5T>G (n.3017-5T>G)
n.2473-5T>G
c.250-5T>G
c.2693-5T>G (n.2693-5T>G)
c.590-5T>G (n.590-5T>G)
c.3032-5T>G (n.3032-5T>G)
c.1352-5T>G (n.1352-5T>G)
Xg.108625701C>ACA2694440524COL4A5c.3017-4C>A (n.3017-4C>A)
n.2473-4C>A
c.250-4C>A
c.2693-4C>A (n.2693-4C>A)
c.590-4C>A (n.590-4C>A)
c.3032-4C>A (n.3032-4C>A)
c.1352-4C>A (n.1352-4C>A)
 gnomAD v4
Xg.108625702T>CCA2694440525COL4A5c.3017-3T>C (n.3017-3T>C)
n.2473-3T>C
c.250-3T>C
c.2693-3T>C (n.2693-3T>C)
c.590-3T>C (n.590-3T>C)
c.3032-3T>C (n.3032-3T>C)
c.1352-3T>C (n.1352-3T>C)
 gnomAD v4
Xg.108625703A>CCA413854381COL4A5c.3017-2A>C (n.3017-2A>C)
n.2473-2A>C
c.250-2A>C
c.2693-2A>C (n.2693-2A>C)
c.590-2A>C (n.590-2A>C)
c.3032-2A>C (n.3032-2A>C)
c.1352-2A>C (n.1352-2A>C)
Xg.108625703A>GCA413854367COL4A5c.3017-2A>G (n.3017-2A>G)
n.2473-2A>G
c.250-2A>G
c.2693-2A>G (n.2693-2A>G)
c.590-2A>G (n.590-2A>G)
c.3032-2A>G (n.3032-2A>G)
c.1352-2A>G (n.1352-2A>G)
 ClinVar gnomAD v4
Xg.108625703A>TCA413854365COL4A5c.3017-2A>T (n.3017-2A>T)
n.2473-2A>T
c.250-2A>T
c.2693-2A>T (n.2693-2A>T)
c.590-2A>T (n.590-2A>T)
c.3032-2A>T (n.3032-2A>T)
c.1352-2A>T (n.1352-2A>T)
 gnomAD v4
Xg.108625704G>ACA258791COL4A5c.3017-1G>A (n.3017-1G>A)
n.2473-1G>A
c.250-1G>A
c.2693-1G>A (n.2693-1G>A)
c.590-1G>A (n.590-1G>A)
c.3032-1G>A (n.3032-1G>A)
c.1352-1G>A (n.1352-1G>A)
 ClinVar dbSNP
Xg.108625704G>CCA413854386COL4A5c.3017-1G>C (n.3017-1G>C)
n.2473-1G>C
c.250-1G>C
c.2693-1G>C (n.2693-1G>C)
c.590-1G>C (n.590-1G>C)
c.3032-1G>C (n.3032-1G>C)
c.1352-1G>C (n.1352-1G>C)
Xg.108625704G=CA2450697885COL4A5c.3017-1G= (n.3017-1G=)
n.2473-1G=
c.250-1G=
c.2693-1G= (n.2693-1G=)
c.590-1G= (n.590-1G=)
c.3032-1G= (n.3032-1G=)
c.1352-1G= (n.1352-1G=)
Xg.108625704G>TCA413854391COL4A5c.3017-1G>T (n.3017-1G>T)
n.2473-1G>T
c.250-1G>T
c.2693-1G>T (n.2693-1G>T)
c.590-1G>T (n.590-1G>T)
c.3032-1G>T (n.3032-1G>T)
c.1352-1G>T (n.1352-1G>T)
 gnomAD v4
Xg.108625705delCA2579676632COL4A5c.3017del
n.2473del
c.250del
c.2693del
c.590del
c.3032del
c.1352del
Xg.108625705G>ACA413854394COL4A5c.3017G>A (p.Gly1006Asp)
n.2473G>A
c.250G>A
c.2693G>A (p.Gly898Asp)
c.590G>A (p.Gly197Asp)
c.3032G>A (p.Gly1011Asp)
c.1352G>A (p.Gly451Asp)
 ClinVar dbSNP
Xg.108625705G>CCA413854397COL4A5c.3017G>C (p.Gly1006Ala)
n.2473G>C
c.250G>C
c.2693G>C (p.Gly898Ala)
c.590G>C (p.Gly197Ala)
c.3032G>C (p.Gly1011Ala)
c.1352G>C (p.Gly451Ala)
Xg.108625705G=CA2450697886COL4A5c.3017G= (p.Gly1006=)
n.2473G=
c.250G=
c.2693G= (p.Gly898=)
c.590G= (p.Gly197=)
c.3032G= (p.Gly1011=)
c.1352G= (p.Gly451=)
Xg.108625705G>TCA258792COL4A5c.3017G>T (p.Gly1006Val)
n.2473G>T
c.250G>T
c.2693G>T (p.Gly898Val)
c.590G>T (p.Gly197Val)
c.3032G>T (p.Gly1011Val)
c.1352G>T (p.Gly451Val)
 ClinVar dbSNP
Xg.108625706T>ACA517925328COL4A5c.3018T>A (p.Gly1006=)
n.2474T>A
c.251T>A
c.2694T>A (p.Gly898=)
c.591T>A (p.Gly197=)
c.3033T>A (p.Gly1011=)
c.1353T>A (p.Gly451=)
Xg.108625706T>CCA517925329COL4A5c.3018T>C (p.Gly1006=)
n.2474T>C
c.251T>C
c.2694T>C (p.Gly898=)
c.591T>C (p.Gly197=)
c.3033T>C (p.Gly1011=)
c.1353T>C (p.Gly451=)
 gnomAD v4
Xg.108625706T>GCA517925330COL4A5c.3018T>G (p.Gly1006=)
n.2474T>G
c.251T>G
c.2694T>G (p.Gly898=)
c.591T>G (p.Gly197=)
c.3033T>G (p.Gly1011=)
c.1353T>G (p.Gly451=)
Xg.108625707C>ACA413854398COL4A5c.3019C>A (p.Pro1007Thr)
n.2475C>A
c.252C>A
c.2695C>A (p.Pro899Thr)
c.592C>A (p.Pro198Thr)
c.3034C>A (p.Pro1012Thr)
c.1354C>A (p.Pro452Thr)
 gnomAD v4
Xg.108625707C=CA2450697887COL4A5c.3019C= (p.Pro1007=)
n.2475C=
c.252C=
c.2695C= (p.Pro899=)
c.592C= (p.Pro198=)
c.3034C= (p.Pro1012=)
c.1354C= (p.Pro452=)
Xg.108625707C>GCA413854400COL4A5c.3019C>G (p.Pro1007Ala)
n.2475C>G
c.252C>G
c.2695C>G (p.Pro899Ala)
c.592C>G (p.Pro198Ala)
c.3034C>G (p.Pro1012Ala)
c.1354C>G (p.Pro452Ala)
Xg.108625707C>TCA10489021COL4A5c.3019C>T (p.Pro1007Ser)
n.2475C>T
c.252C>T
c.2695C>T (p.Pro899Ser)
c.592C>T (p.Pro198Ser)
c.3034C>T (p.Pro1012Ser)
c.1354C>T (p.Pro452Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108625708C>ACA413854402COL4A5c.3020C>A (p.Pro1007His)
n.2476C>A
c.253C>A
c.2696C>A (p.Pro899His)
c.593C>A (p.Pro198His)
c.3035C>A (p.Pro1012His)
c.1355C>A (p.Pro452His)
Xg.108625708C>GCA413854405COL4A5c.3020C>G (p.Pro1007Arg)
n.2476C>G
c.253C>G
c.2696C>G (p.Pro899Arg)
c.593C>G (p.Pro198Arg)
c.3035C>G (p.Pro1012Arg)
c.1355C>G (p.Pro452Arg)
Xg.108625708C>TCA413854407COL4A5c.3020C>T (p.Pro1007Leu)
n.2476C>T
c.253C>T
c.2696C>T (p.Pro899Leu)
c.593C>T (p.Pro198Leu)
c.3035C>T (p.Pro1012Leu)
c.1355C>T (p.Pro452Leu)
Xg.108625709C>ACA517925331COL4A5c.3021C>A (p.Pro1007=)
n.2477C>A
c.254C>A
c.2697C>A (p.Pro899=)
c.594C>A (p.Pro198=)
c.3036C>A (p.Pro1012=)
c.1356C>A (p.Pro452=)
 gnomAD v4
Xg.108625709C=CA2450697888COL4A5c.3021C= (p.Pro1007=)
n.2477C=
c.254C=
c.2697C= (p.Pro899=)
c.594C= (p.Pro198=)
c.3036C= (p.Pro1012=)
c.1356C= (p.Pro452=)
Xg.108625709C>GCA517925333COL4A5c.3021C>G (p.Pro1007=)
n.2477C>G
c.254C>G
c.2697C>G (p.Pro899=)
c.594C>G (p.Pro198=)
c.3036C>G (p.Pro1012=)
c.1356C>G (p.Pro452=)
Xg.108625709C>TCA517925332COL4A5c.3021C>T (p.Pro1007=)
n.2477C>T
c.254C>T
c.2697C>T (p.Pro899=)
c.594C>T (p.Pro198=)
c.3036C>T (p.Pro1012=)
c.1356C>T (p.Pro452=)
 dbSNP gnomAD v4
Xg.108625710A=CA2450697889COL4A5c.3022A= (p.Lys1008=)
n.2478A=
c.255A=
c.2698A= (p.Lys900=)
c.595A= (p.Lys199=)
c.3037A= (p.Lys1013=)
c.1357A= (p.Lys453=)
Xg.108625710A>CCA413854408COL4A5c.3022A>C (p.Lys1008Gln)
n.2478A>C
c.255A>C
c.2698A>C (p.Lys900Gln)
c.595A>C (p.Lys199Gln)
c.3037A>C (p.Lys1013Gln)
c.1357A>C (p.Lys453Gln)
Xg.108625710A>GCA413854416COL4A5c.3022A>G (p.Lys1008Glu)
n.2478A>G
c.255A>G
c.2698A>G (p.Lys900Glu)
c.595A>G (p.Lys199Glu)
c.3037A>G (p.Lys1013Glu)
c.1357A>G (p.Lys453Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108625710A>TCA413854419COL4A5c.3022A>T (p.Lys1008Ter)
n.2478A>T
c.255A>T
c.2698A>T (p.Lys900Ter)
c.595A>T (p.Lys199Ter)
c.3037A>T (p.Lys1013Ter)
c.1357A>T (p.Lys453Ter)
Xg.108625711A=CA2450697890COL4A5c.3023A= (p.Lys1008=)
n.2479A=
c.256A=
c.2699A= (p.Lys900=)
c.596A= (p.Lys199=)
c.3038A= (p.Lys1013=)
c.1358A= (p.Lys453=)
Xg.108625711A>CCA413854422COL4A5c.3023A>C (p.Lys1008Thr)
n.2479A>C
c.256A>C
c.2699A>C (p.Lys900Thr)
c.596A>C (p.Lys199Thr)
c.3038A>C (p.Lys1013Thr)
c.1358A>C (p.Lys453Thr)
Xg.108625711A>GCA10489022COL4A5c.3023A>G (p.Lys1008Arg)
n.2479A>G
c.256A>G
c.2699A>G (p.Lys900Arg)
c.596A>G (p.Lys199Arg)
c.3038A>G (p.Lys1013Arg)
c.1358A>G (p.Lys453Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108625711A>TCA413854426COL4A5c.3023A>T (p.Lys1008Ile)
n.2479A>T
c.256A>T
c.2699A>T (p.Lys900Ile)
c.596A>T (p.Lys199Ile)
c.3038A>T (p.Lys1013Ile)
c.1358A>T (p.Lys453Ile)
Xg.108625712A>CCA413854429COL4A5c.3024A>C (p.Lys1008Asn)
n.2480A>C
c.257A>C
c.2700A>C (p.Lys900Asn)
c.597A>C (p.Lys199Asn)
c.3039A>C (p.Lys1013Asn)
c.1359A>C (p.Lys453Asn)
Xg.108625712A>GCA517925334COL4A5c.3024A>G (p.Lys1008=)
n.2480A>G
c.257A>G
c.2700A>G (p.Lys900=)
c.597A>G (p.Lys199=)
c.3039A>G (p.Lys1013=)
c.1359A>G (p.Lys453=)
Xg.108625712A>TCA413854432COL4A5c.3024A>T (p.Lys1008Asn)
n.2480A>T
c.257A>T
c.2700A>T (p.Lys900Asn)
c.597A>T (p.Lys199Asn)
c.3039A>T (p.Lys1013Asn)
c.1359A>T (p.Lys453Asn)
Xg.108625713G>ACA413854442COL4A5c.3025G>A (p.Gly1009Ser)
n.2481G>A
c.258G>A
c.2701G>A (p.Gly901Ser)
c.598G>A (p.Gly200Ser)
c.3040G>A (p.Gly1014Ser)
c.1360G>A (p.Gly454Ser)
Xg.108625713G>CCA413854447COL4A5c.3025G>C (p.Gly1009Arg)
n.2481G>C
c.258G>C
c.2701G>C (p.Gly901Arg)
c.598G>C (p.Gly200Arg)
c.3040G>C (p.Gly1014Arg)
c.1360G>C (p.Gly454Arg)
Xg.108625713G>TCA413854444COL4A5c.3025G>T (p.Gly1009Cys)
n.2481G>T
c.258G>T
c.2701G>T (p.Gly901Cys)
c.598G>T (p.Gly200Cys)
c.3040G>T (p.Gly1014Cys)
c.1360G>T (p.Gly454Cys)
Xg.108625714G>ACA413854449COL4A5c.3026G>A (p.Gly1009Asp)
n.2482G>A
c.259G>A
c.2702G>A (p.Gly901Asp)
c.599G>A (p.Gly200Asp)
c.3041G>A (p.Gly1014Asp)
c.1361G>A (p.Gly454Asp)
 gnomAD v4
Xg.108625714G>CCA413854450COL4A5c.3026G>C (p.Gly1009Ala)
n.2482G>C
c.259G>C
c.2702G>C (p.Gly901Ala)
c.599G>C (p.Gly200Ala)
c.3041G>C (p.Gly1014Ala)
c.1361G>C (p.Gly454Ala)
Xg.108625714G>TCA413854452COL4A5c.3026G>T (p.Gly1009Val)
n.2482G>T
c.259G>T
c.2702G>T (p.Gly901Val)
c.599G>T (p.Gly200Val)
c.3041G>T (p.Gly1014Val)
c.1361G>T (p.Gly454Val)
 dbSNP
Xg.108625715T>ACA517925335COL4A5c.3027T>A (p.Gly1009=)
n.2483T>A
c.260T>A
c.2703T>A (p.Gly901=)
c.600T>A (p.Gly200=)
c.3042T>A (p.Gly1014=)
c.1362T>A (p.Gly454=)
Xg.108625715T>CCA517925336COL4A5c.3027T>C (p.Gly1009=)
n.2483T>C
c.260T>C
c.2703T>C (p.Gly901=)
c.600T>C (p.Gly200=)
c.3042T>C (p.Gly1014=)
c.1362T>C (p.Gly454=)
Xg.108625715T>GCA517925337COL4A5c.3027T>G (p.Gly1009=)
n.2483T>G
c.260T>G
c.2703T>G (p.Gly901=)
c.600T>G (p.Gly200=)
c.3042T>G (p.Gly1014=)
c.1362T>G (p.Gly454=)
Xg.108625716A>CCA413854454COL4A5c.3028A>C (p.Asn1010His)
n.2484A>C
c.261A>C
c.2704A>C (p.Asn902His)
c.601A>C (p.Asn201His)
c.3043A>C (p.Asn1015His)
c.1363A>C (p.Asn455His)
Xg.108625716A>GCA413854457COL4A5c.3028A>G (p.Asn1010Asp)
n.2484A>G
c.261A>G
c.2704A>G (p.Asn902Asp)
c.601A>G (p.Asn201Asp)
c.3043A>G (p.Asn1015Asp)
c.1363A>G (p.Asn455Asp)
 dbSNP
Xg.108625716A>TCA413854460COL4A5c.3028A>T (p.Asn1010Tyr)
n.2484A>T
c.261A>T
c.2704A>T (p.Asn902Tyr)
c.601A>T (p.Asn201Tyr)
c.3043A>T (p.Asn1015Tyr)
c.1363A>T (p.Asn455Tyr)
Xg.108625717delCA2579676633COL4A5c.3029del (p.Asn1010ThrfsTer11)
n.2485del
c.262del
c.2705del (p.Asn902ThrfsTer11)
c.602del (p.Asn201ThrfsTer11)
c.3044del (p.Asn1015ThrfsTer11)
c.1364del (p.Asn455ThrfsTer11)
 gnomAD v4
Xg.108625717A=CA2450697891COL4A5c.3029A= (p.Asn1010=)
n.2485A=
c.262A=
c.2705A= (p.Asn902=)
c.602A= (p.Asn201=)
c.3044A= (p.Asn1015=)
c.1364A= (p.Asn455=)
Xg.108625717A>CCA413854464COL4A5c.3029A>C (p.Asn1010Thr)
n.2485A>C
c.262A>C
c.2705A>C (p.Asn902Thr)
c.602A>C (p.Asn201Thr)
c.3044A>C (p.Asn1015Thr)
c.1364A>C (p.Asn455Thr)
Xg.108625717A>GCA10489023COL4A5c.3029A>G (p.Asn1010Ser)
n.2485A>G
c.262A>G
c.2705A>G (p.Asn902Ser)
c.602A>G (p.Asn201Ser)
c.3044A>G (p.Asn1015Ser)
c.1364A>G (p.Asn455Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108625717A>TCA413854468COL4A5c.3029A>T (p.Asn1010Ile)
n.2485A>T
c.262A>T
c.2705A>T (p.Asn902Ile)
c.602A>T (p.Asn201Ile)
c.3044A>T (p.Asn1015Ile)
c.1364A>T (p.Asn455Ile)
Xg.108625718C>ACA413854472COL4A5c.3030C>A (p.Asn1010Lys)
n.2486C>A
c.263C>A
c.2706C>A (p.Asn902Lys)
c.603C>A (p.Asn201Lys)
c.3045C>A (p.Asn1015Lys)
c.1365C>A (p.Asn455Lys)
Xg.108625718C>GCA413854475COL4A5c.3030C>G (p.Asn1010Lys)
n.2486C>G
c.263C>G
c.2706C>G (p.Asn902Lys)
c.603C>G (p.Asn201Lys)
c.3045C>G (p.Asn1015Lys)
c.1365C>G (p.Asn455Lys)
Xg.108625718C>TCA517925338COL4A5c.3030C>T (p.Asn1010=)
n.2486C>T
c.263C>T
c.2706C>T (p.Asn902=)
c.603C>T (p.Asn201=)
c.3045C>T (p.Asn1015=)
c.1365C>T (p.Asn455=)
 COSMIC COSMIC
Xg.108625720delCA2580100214COL4A5c.3032del (p.Pro1011LeufsTer10)
n.2488del
c.265del
c.2708del (p.Pro903LeufsTer10)
c.605del (p.Pro202LeufsTer10)
c.3047del (p.Pro1016LeufsTer10)
c.1367del (p.Pro456LeufsTer10)
 ClinVar
Xg.108625719C>ACA413854483COL4A5c.3031C>A (p.Pro1011Thr)
n.2487C>A
c.264C>A
c.2707C>A (p.Pro903Thr)
c.604C>A (p.Pro202Thr)
c.3046C>A (p.Pro1016Thr)
c.1366C>A (p.Pro456Thr)
 gnomAD v4
Xg.108625719C>GCA413854480COL4A5c.3031C>G (p.Pro1011Ala)
n.2487C>G
c.264C>G
c.2707C>G (p.Pro903Ala)
c.604C>G (p.Pro202Ala)
c.3046C>G (p.Pro1016Ala)
c.1366C>G (p.Pro456Ala)
Xg.108625719C>TCA413854478COL4A5c.3031C>T (p.Pro1011Ser)
n.2487C>T
c.264C>T
c.2707C>T (p.Pro903Ser)
c.604C>T (p.Pro202Ser)
c.3046C>T (p.Pro1016Ser)
c.1366C>T (p.Pro456Ser)
 gnomAD v4
Xg.108625720C>ACA413854487COL4A5c.3032C>A (p.Pro1011His)
n.2488C>A
c.265C>A
c.2708C>A (p.Pro903His)
c.605C>A (p.Pro202His)
c.3047C>A (p.Pro1016His)
c.1367C>A (p.Pro456His)
Xg.108625720C=CA2450697892COL4A5c.3032C= (p.Pro1011=)
n.2488C=
c.265C=
c.2708C= (p.Pro903=)
c.605C= (p.Pro202=)
c.3047C= (p.Pro1016=)
c.1367C= (p.Pro456=)
Xg.108625720C>GCA413854490COL4A5c.3032C>G (p.Pro1011Arg)
n.2488C>G
c.265C>G
c.2708C>G (p.Pro903Arg)
c.605C>G (p.Pro202Arg)
c.3047C>G (p.Pro1016Arg)
c.1367C>G (p.Pro456Arg)
Xg.108625720C>TCA413854492COL4A5c.3032C>T (p.Pro1011Leu)
n.2488C>T
c.265C>T
c.2708C>T (p.Pro903Leu)
c.605C>T (p.Pro202Leu)
c.3047C>T (p.Pro1016Leu)
c.1367C>T (p.Pro456Leu)
 dbSNP
Xg.108625721T>ACA517925339COL4A5c.3033T>A (p.Pro1011=)
n.2489T>A
c.266T>A
c.2709T>A (p.Pro903=)
c.606T>A (p.Pro202=)
c.3048T>A (p.Pro1016=)
c.1368T>A (p.Pro456=)
Xg.108625721T>CCA517925340COL4A5c.3033T>C (p.Pro1011=)
n.2489T>C
c.266T>C
c.2709T>C (p.Pro903=)
c.606T>C (p.Pro202=)
c.3048T>C (p.Pro1016=)
c.1368T>C (p.Pro456=)
Xg.108625721T>GCA517925341COL4A5c.3033T>G (p.Pro1011=)
n.2489T>G
c.266T>G
c.2709T>G (p.Pro903=)
c.606T>G (p.Pro202=)
c.3048T>G (p.Pro1016=)
c.1368T>G (p.Pro456=)
Xg.108625722G>ACA413854495COL4A5c.3034G>A (p.Gly1012Ser)
n.2490G>A
c.267G>A
c.2710G>A (p.Gly904Ser)
c.607G>A (p.Gly203Ser)
c.3049G>A (p.Gly1017Ser)
c.1369G>A (p.Gly457Ser)
Xg.108625722G>CCA413854497COL4A5c.3034G>C (p.Gly1012Arg)
n.2490G>C
c.267G>C
c.2710G>C (p.Gly904Arg)
c.607G>C (p.Gly203Arg)
c.3049G>C (p.Gly1017Arg)
c.1369G>C (p.Gly457Arg)
Xg.108625722G>TCA413854499COL4A5c.3034G>T (p.Gly1012Cys)
n.2490G>T
c.267G>T
c.2710G>T (p.Gly904Cys)
c.607G>T (p.Gly203Cys)
c.3049G>T (p.Gly1017Cys)
c.1369G>T (p.Gly457Cys)
 COSMIC COSMIC
Xg.108625723delCA2579676634COL4A5c.3035del (p.Gly1012ValfsTer9)
n.2491del
c.268del
c.2711del (p.Gly904ValfsTer9)
c.608del (p.Gly203ValfsTer9)
c.3050del (p.Gly1017ValfsTer9)
c.1370del (p.Gly457ValfsTer9)
 gnomAD v4
Xg.108625723G>ACA413854501COL4A5c.3035G>A (p.Gly1012Asp)
n.2491G>A
c.268G>A
c.2711G>A (p.Gly904Asp)
c.608G>A (p.Gly203Asp)
c.3050G>A (p.Gly1017Asp)
c.1370G>A (p.Gly457Asp)
 ClinVar dbSNP
Xg.108625723G>CCA413854502COL4A5c.3035G>C (p.Gly1012Ala)
n.2491G>C
c.268G>C
c.2711G>C (p.Gly904Ala)
c.608G>C (p.Gly203Ala)
c.3050G>C (p.Gly1017Ala)
c.1370G>C (p.Gly457Ala)
Xg.108625723G>TCA413854504COL4A5c.3035G>T (p.Gly1012Val)
n.2491G>T
c.268G>T
c.2711G>T (p.Gly904Val)
c.608G>T (p.Gly203Val)
c.3050G>T (p.Gly1017Val)
c.1370G>T (p.Gly457Val)
Xg.108625724T>ACA517925342COL4A5c.3036T>A (p.Gly1012=)
n.2492T>A
c.269T>A
c.2712T>A (p.Gly904=)
c.609T>A (p.Gly203=)
c.3051T>A (p.Gly1017=)
c.1371T>A (p.Gly457=)
Xg.108625724T>CCA517925343COL4A5c.3036T>C (p.Gly1012=)
n.2492T>C
c.269T>C
c.2712T>C (p.Gly904=)
c.609T>C (p.Gly203=)
c.3051T>C (p.Gly1017=)
c.1371T>C (p.Gly457=)
Xg.108625724T>GCA517925344COL4A5c.3036T>G (p.Gly1012=)
n.2492T>G
c.269T>G
c.2712T>G (p.Gly904=)
c.609T>G (p.Gly203=)
c.3051T>G (p.Gly1017=)
c.1371T>G (p.Gly457=)
Xg.108625725C>ACA413854507COL4A5c.3037C>A (p.Leu1013Ile)
n.2493C>A
c.270C>A
c.2713C>A (p.Leu905Ile)
c.610C>A (p.Leu204Ile)
c.3052C>A (p.Leu1018Ile)
c.1372C>A (p.Leu458Ile)
Xg.108625725C=CA2450697893COL4A5c.3037C= (p.Leu1013=)
n.2493C=
c.270C=
c.2713C= (p.Leu905=)
c.610C= (p.Leu204=)
c.3052C= (p.Leu1018=)
c.1372C= (p.Leu458=)
Xg.108625725C>GCA413854510COL4A5c.3037C>G (p.Leu1013Val)
n.2493C>G
c.270C>G
c.2713C>G (p.Leu905Val)
c.610C>G (p.Leu204Val)
c.3052C>G (p.Leu1018Val)
c.1372C>G (p.Leu458Val)
Xg.108625725C>TCA10489024COL4A5c.3037C>T (p.Leu1013Phe)
n.2493C>T
c.270C>T
c.2713C>T (p.Leu905Phe)
c.610C>T (p.Leu204Phe)
c.3052C>T (p.Leu1018Phe)
c.1372C>T (p.Leu458Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108625726T>ACA413854517COL4A5c.3038T>A (p.Leu1013His)
n.2494T>A
c.271T>A
c.2714T>A (p.Leu905His)
c.611T>A (p.Leu204His)
c.3053T>A (p.Leu1018His)
c.1373T>A (p.Leu458His)
Xg.108625726T>CCA413854519COL4A5c.3038T>C (p.Leu1013Pro)
n.2494T>C
c.271T>C
c.2714T>C (p.Leu905Pro)
c.611T>C (p.Leu204Pro)
c.3053T>C (p.Leu1018Pro)
c.1373T>C (p.Leu458Pro)
Xg.108625726T>GCA413854514COL4A5c.3038T>G (p.Leu1013Arg)
n.2494T>G
c.271T>G
c.2714T>G (p.Leu905Arg)
c.611T>G (p.Leu204Arg)
c.3053T>G (p.Leu1018Arg)
c.1373T>G (p.Leu458Arg)
Xg.108625727C>ACA517925345COL4A5c.3039C>A (p.Leu1013=)
n.2495C>A
c.272C>A
c.2715C>A (p.Leu905=)
c.612C>A (p.Leu204=)
c.3054C>A (p.Leu1018=)
c.1374C>A (p.Leu458=)
Xg.108625727C>GCA517925346COL4A5c.3039C>G (p.Leu1013=)
n.2495C>G
c.272C>G
c.2715C>G (p.Leu905=)
c.612C>G (p.Leu204=)
c.3054C>G (p.Leu1018=)
c.1374C>G (p.Leu458=)
Xg.108625727C>TCA517925347COL4A5c.3039C>T (p.Leu1013=)
n.2495C>T
c.272C>T
c.2715C>T (p.Leu905=)
c.612C>T (p.Leu204=)
c.3054C>T (p.Leu1018=)
c.1374C>T (p.Leu458=)
 COSMIC COSMIC
Xg.108625728C>ACA413854522COL4A5c.3040C>A (p.Pro1014Thr)
n.2496C>A
c.273C>A
c.2716C>A (p.Pro906Thr)
c.613C>A (p.Pro205Thr)
c.3055C>A (p.Pro1019Thr)
c.1375C>A (p.Pro459Thr)
Xg.108625728C>GCA413854525COL4A5c.3040C>G (p.Pro1014Ala)
n.2496C>G
c.273C>G
c.2716C>G (p.Pro906Ala)
c.613C>G (p.Pro205Ala)
c.3055C>G (p.Pro1019Ala)
c.1375C>G (p.Pro459Ala)
Xg.108625728C>TCA413854526COL4A5c.3040C>T (p.Pro1014Ser)
n.2496C>T
c.273C>T
c.2716C>T (p.Pro906Ser)
c.613C>T (p.Pro205Ser)
c.3055C>T (p.Pro1019Ser)
c.1375C>T (p.Pro459Ser)
Xg.108625729C>ACA413854529COL4A5c.3041C>A (p.Pro1014His)
n.2497C>A
c.274C>A
c.2717C>A (p.Pro906His)
c.614C>A (p.Pro205His)
c.3056C>A (p.Pro1019His)
c.1376C>A (p.Pro459His)
Xg.108625729C=CA2450697894COL4A5c.3041C= (p.Pro1014=)
n.2497C=
c.274C=
c.2717C= (p.Pro906=)
c.614C= (p.Pro205=)
c.3056C= (p.Pro1019=)
c.1376C= (p.Pro459=)
Xg.108625729C>GCA413854532COL4A5c.3041C>G (p.Pro1014Arg)
n.2497C>G
c.274C>G
c.2717C>G (p.Pro906Arg)
c.614C>G (p.Pro205Arg)
c.3056C>G (p.Pro1019Arg)
c.1376C>G (p.Pro459Arg)
 ClinVar dbSNP gnomAD v4
Xg.108625729C>TCA413854535COL4A5c.3041C>T (p.Pro1014Leu)
n.2497C>T
c.274C>T
c.2717C>T (p.Pro906Leu)
c.614C>T (p.Pro205Leu)
c.3056C>T (p.Pro1019Leu)
c.1376C>T (p.Pro459Leu)
 COSMIC COSMIC
Xg.108625730T>ACA517925348COL4A5c.3042T>A (p.Pro1014=)
n.2498T>A
c.275T>A
c.2718T>A (p.Pro906=)
c.615T>A (p.Pro205=)
c.3057T>A (p.Pro1019=)
c.1377T>A (p.Pro459=)
Xg.108625730T>CCA517925349COL4A5c.3042T>C (p.Pro1014=)
n.2498T>C
c.275T>C
c.2718T>C (p.Pro906=)
c.615T>C (p.Pro205=)
c.3057T>C (p.Pro1019=)
c.1377T>C (p.Pro459=)
Xg.108625730T>GCA517925350COL4A5c.3042T>G (p.Pro1014=)
n.2498T>G
c.275T>G
c.2718T>G (p.Pro906=)
c.615T>G (p.Pro205=)
c.3057T>G (p.Pro1019=)
c.1377T>G (p.Pro459=)
Xg.108625731G>ACA413854539COL4A5c.3043G>A (p.Gly1015Arg)
n.2499G>A
c.276G>A
c.2719G>A (p.Gly907Arg)
c.616G>A (p.Gly206Arg)
c.3058G>A (p.Gly1020Arg)
c.1378G>A (p.Gly460Arg)
 ClinVar
Xg.108625731G>CCA413854540COL4A5c.3043G>C (p.Gly1015Arg)
n.2499G>C
c.276G>C
c.2719G>C (p.Gly907Arg)
c.616G>C (p.Gly206Arg)
c.3058G>C (p.Gly1020Arg)
c.1378G>C (p.Gly460Arg)
Xg.108625731G=CA2450697895COL4A5c.3043G= (p.Gly1015=)
n.2499G=
c.276G=
c.2719G= (p.Gly907=)
c.616G= (p.Gly206=)
c.3058G= (p.Gly1020=)
c.1378G= (p.Gly460=)
Xg.108625731G>TCA413854543COL4A5c.3043G>T (p.Gly1015Ter)
n.2499G>T
c.276G>T
c.2719G>T (p.Gly907Ter)
c.616G>T (p.Gly206Ter)
c.3058G>T (p.Gly1020Ter)
c.1378G>T (p.Gly460Ter)
 ClinVar dbSNP
Xg.108625732delCA2579676635COL4A5c.3044del (p.Gly1015AspfsTer6)
n.2500del
c.277del
c.2720del (p.Gly907AspfsTer6)
c.617del (p.Gly206AspfsTer6)
c.3059del (p.Gly1020AspfsTer6)
c.1379del (p.Gly460AspfsTer6)
Xg.108625732G>ACA413854545COL4A5c.3044G>A (p.Gly1015Glu)
n.2500G>A
c.277G>A
c.2720G>A (p.Gly907Glu)
c.617G>A (p.Gly206Glu)
c.3059G>A (p.Gly1020Glu)
c.1379G>A (p.Gly460Glu)
Xg.108625732G>CCA413854548COL4A5c.3044G>C (p.Gly1015Ala)
n.2500G>C
c.277G>C
c.2720G>C (p.Gly907Ala)
c.617G>C (p.Gly206Ala)
c.3059G>C (p.Gly1020Ala)
c.1379G>C (p.Gly460Ala)
Xg.108625732G=CA2450697896COL4A5c.3044G= (p.Gly1015=)
n.2500G=
c.277G=
c.2720G= (p.Gly907=)
c.617G= (p.Gly206=)
c.3059G= (p.Gly1020=)
c.1379G= (p.Gly460=)
Xg.108625732G>TCA258794COL4A5c.3044G>T (p.Gly1015Val)
n.2500G>T
c.277G>T
c.2720G>T (p.Gly907Val)
c.617G>T (p.Gly206Val)
c.3059G>T (p.Gly1020Val)
c.1379G>T (p.Gly460Val)
 dbSNP
Xg.108625733A=CA2450697898COL4A5c.3045A= (p.Gly1015=)
n.2501A=
c.278A=
c.2721A= (p.Gly907=)
c.618A= (p.Gly206=)
c.3060A= (p.Gly1020=)
c.1380A= (p.Gly460=)
Xg.108625733A>CCA517925351COL4A5c.3045A>C (p.Gly1015=)
n.2501A>C
c.278A>C
c.2721A>C (p.Gly907=)
c.618A>C (p.Gly206=)
c.3060A>C (p.Gly1020=)
c.1380A>C (p.Gly460=)
Xg.108625733A>GCA517925352COL4A5c.3045A>G (p.Gly1015=)
n.2501A>G
c.278A>G
c.2721A>G (p.Gly907=)
c.618A>G (p.Gly206=)
c.3060A>G (p.Gly1020=)
c.1380A>G (p.Gly460=)
 ClinVar dbSNP
Xg.108625733A>TCA517925353COL4A5c.3045A>T (p.Gly1015=)
n.2501A>T
c.278A>T
c.2721A>T (p.Gly907=)
c.618A>T (p.Gly206=)
c.3060A>T (p.Gly1020=)
c.1380A>T (p.Gly460=)
Xg.108625733_108625734delinsACCA2450697897COL4A5c.3045_3046delinsAC (p.Gly1015=)
n.2501_2502delinsAC
c.278_279delinsAC
c.2721_2722delinsAC (p.Gly907=)
c.618_619delinsAC (p.Gly206=)
c.3060_3061delinsAC (p.Gly1020=)
c.1380_1381delinsAC (p.Gly460=)
Xg.108625734delCA261091COL4A5c.3046del (p.Gln1016SerfsTer5)
n.2502del
c.279del
c.2722del (p.Gln908SerfsTer5)
c.619del (p.Gln207SerfsTer5)
c.3061del (p.Gln1021SerfsTer5)
c.1381del (p.Gln461SerfsTer5)
 dbSNP
Xg.108625734C>ACA413854558COL4A5c.3046C>A (p.Gln1016Lys)
n.2502C>A
c.279C>A
c.2722C>A (p.Gln908Lys)
c.619C>A (p.Gln207Lys)
c.3061C>A (p.Gln1021Lys)
c.1381C>A (p.Gln461Lys)
Xg.108625734C=CA2450697899COL4A5c.3046C= (p.Gln1016=)
n.2502C=
c.279C=
c.2722C= (p.Gln908=)
c.619C= (p.Gln207=)
c.3061C= (p.Gln1021=)
c.1381C= (p.Gln461=)
Xg.108625734C>GCA413854556COL4A5c.3046C>G (p.Gln1016Glu)
n.2502C>G
c.279C>G
c.2722C>G (p.Gln908Glu)
c.619C>G (p.Gln207Glu)
c.3061C>G (p.Gln1021Glu)
c.1381C>G (p.Gln461Glu)
Xg.108625734C>TCA258796COL4A5c.3046C>T (p.Gln1016Ter)
n.2502C>T
c.279C>T
c.2722C>T (p.Gln908Ter)
c.619C>T (p.Gln207Ter)
c.3061C>T (p.Gln1021Ter)
c.1381C>T (p.Gln461Ter)
 dbSNP
Xg.108625735A>CCA413854561COL4A5c.3047A>C (p.Gln1016Pro)
n.2503A>C
c.280A>C
c.2723A>C (p.Gln908Pro)
c.620A>C (p.Gln207Pro)
c.3062A>C (p.Gln1021Pro)
c.1382A>C (p.Gln461Pro)
Xg.108625735A>GCA413854563COL4A5c.3047A>G (p.Gln1016Arg)
n.2503A>G
c.280A>G
c.2723A>G (p.Gln908Arg)
c.620A>G (p.Gln207Arg)
c.3062A>G (p.Gln1021Arg)
c.1382A>G (p.Gln461Arg)
Xg.108625735A>TCA413854564COL4A5c.3047A>T (p.Gln1016Leu)
n.2503A>T
c.280A>T
c.2723A>T (p.Gln908Leu)
c.620A>T (p.Gln207Leu)
c.3062A>T (p.Gln1021Leu)
c.1382A>T (p.Gln461Leu)
Xg.108625736G>ACA517925354COL4A5c.3048G>A (p.Gln1016=)
n.2504G>A
c.281G>A
c.2724G>A (p.Gln908=)
c.621G>A (p.Gln207=)
c.3063G>A (p.Gln1021=)
c.1383G>A (p.Gln461=)
Xg.108625736G>CCA413854566COL4A5c.3048G>C (p.Gln1016His)
n.2504G>C
c.281G>C
c.2724G>C (p.Gln908His)
c.621G>C (p.Gln207His)
c.3063G>C (p.Gln1021His)
c.1383G>C (p.Gln461His)
Xg.108625736G>TCA413854568COL4A5c.3048G>T (p.Gln1016His)
n.2504G>T
c.281G>T
c.2724G>T (p.Gln908His)
c.621G>T (p.Gln207His)
c.3063G>T (p.Gln1021His)
c.1383G>T (p.Gln461His)
Xg.108625737C>ACA413854570COL4A5c.3049C>A (p.Pro1017Thr)
n.2505C>A
c.282C>A
c.2725C>A (p.Pro909Thr)
c.622C>A (p.Pro208Thr)
c.3064C>A (p.Pro1022Thr)
c.1384C>A (p.Pro462Thr)
Xg.108625737C>GCA413854572COL4A5c.3049C>G (p.Pro1017Ala)
n.2505C>G
c.282C>G
c.2725C>G (p.Pro909Ala)
c.622C>G (p.Pro208Ala)
c.3064C>G (p.Pro1022Ala)
c.1384C>G (p.Pro462Ala)
Xg.108625737C>TCA413854574COL4A5c.3049C>T (p.Pro1017Ser)
n.2505C>T
c.282C>T
c.2725C>T (p.Pro909Ser)
c.622C>T (p.Pro208Ser)
c.3064C>T (p.Pro1022Ser)
c.1384C>T (p.Pro462Ser)
Xg.108625738C>ACA413854576COL4A5c.3050C>A (p.Pro1017Gln)
n.2506C>A
c.283C>A
c.2726C>A (p.Pro909Gln)
c.623C>A (p.Pro208Gln)
c.3065C>A (p.Pro1022Gln)
c.1385C>A (p.Pro462Gln)
Xg.108625738C>GCA413854578COL4A5c.3050C>G (p.Pro1017Arg)
n.2506C>G
c.283C>G
c.2726C>G (p.Pro909Arg)
c.623C>G (p.Pro208Arg)
c.3065C>G (p.Pro1022Arg)
c.1385C>G (p.Pro462Arg)
Xg.108625738C>TCA413854579COL4A5c.3050C>T (p.Pro1017Leu)
n.2506C>T
c.283C>T
c.2726C>T (p.Pro909Leu)
c.623C>T (p.Pro208Leu)
c.3065C>T (p.Pro1022Leu)
c.1385C>T (p.Pro462Leu)
Xg.108625739A>CCA517925357COL4A5c.3051A>C (p.Pro1017=)
n.2507A>C
c.284A>C
c.2727A>C (p.Pro909=)
c.624A>C (p.Pro208=)
c.3066A>C (p.Pro1022=)
c.1386A>C (p.Pro462=)
Xg.108625739A>GCA517925355COL4A5c.3051A>G (p.Pro1017=)
n.2507A>G
c.284A>G
c.2727A>G (p.Pro909=)
c.624A>G (p.Pro208=)
c.3066A>G (p.Pro1022=)
c.1386A>G (p.Pro462=)
 gnomAD v4
Xg.108625739A>TCA517925356COL4A5c.3051A>T (p.Pro1017=)
n.2507A>T
c.284A>T
c.2727A>T (p.Pro909=)
c.624A>T (p.Pro208=)
c.3066A>T (p.Pro1022=)
c.1386A>T (p.Pro462=)
Xg.108625739dupCA2573159096COL4A5c.3051dup (p.Gly1018ArgfsTer9)
n.2507dup
c.284dup
c.2727dup (p.Gly910ArgfsTer9)
c.624dup (p.Gly209ArgfsTer9)
c.3066dup (p.Gly1023ArgfsTer9)
c.1386dup (p.Gly463ArgfsTer9)
 ClinVar dbSNP
Xg.108625740G>ACA413854581COL4A5c.3052G>A (p.Gly1018Ser)
n.2508G>A
c.285G>A
c.2728G>A (p.Gly910Ser)
c.625G>A (p.Gly209Ser)
c.3067G>A (p.Gly1023Ser)
c.1387G>A (p.Gly463Ser)
 ClinVar
Xg.108625740G>CCA413854583COL4A5c.3052G>C (p.Gly1018Arg)
n.2508G>C
c.285G>C
c.2728G>C (p.Gly910Arg)
c.625G>C (p.Gly209Arg)
c.3067G>C (p.Gly1023Arg)
c.1387G>C (p.Gly463Arg)
Xg.108625740G=CA2450697900COL4A5c.3052G= (p.Gly1018=)
n.2508G=
c.285G=
c.2728G= (p.Gly910=)
c.625G= (p.Gly209=)
c.3067G= (p.Gly1023=)
c.1387G= (p.Gly463=)
Xg.108625740G>TCA413854585COL4A5c.3052G>T (p.Gly1018Cys)
n.2508G>T
c.285G>T
c.2728G>T (p.Gly910Cys)
c.625G>T (p.Gly209Cys)
c.3067G>T (p.Gly1023Cys)
c.1387G>T (p.Gly463Cys)
 ClinVar dbSNP
Xg.108625741delCA2695235751COL4A5c.3053del (p.Gly1018ValfsTer3)
n.2509del
c.286del
c.2729del (p.Gly910ValfsTer3)
c.626del (p.Gly209ValfsTer3)
c.3068del (p.Gly1023ValfsTer3)
c.1388del (p.Gly463ValfsTer3)
Xg.108625741G>ACA413854589COL4A5c.3053G>A (p.Gly1018Asp)
n.2509G>A
c.286G>A
c.2729G>A (p.Gly910Asp)
c.626G>A (p.Gly209Asp)
c.3068G>A (p.Gly1023Asp)
c.1388G>A (p.Gly463Asp)
 ClinVar
Xg.108625741G>CCA413854591COL4A5c.3053G>C (p.Gly1018Ala)
n.2509G>C
c.286G>C
c.2729G>C (p.Gly910Ala)
c.626G>C (p.Gly209Ala)
c.3068G>C (p.Gly1023Ala)
c.1388G>C (p.Gly463Ala)
Xg.108625741G=CA2450697901COL4A5c.3053G= (p.Gly1018=)
n.2509G=
c.286G=
c.2729G= (p.Gly910=)
c.626G= (p.Gly209=)
c.3068G= (p.Gly1023=)
c.1388G= (p.Gly463=)
Xg.108625741G>TCA413854587COL4A5c.3053G>T (p.Gly1018Val)
n.2509G>T
c.286G>T
c.2729G>T (p.Gly910Val)
c.626G>T (p.Gly209Val)
c.3068G>T (p.Gly1023Val)
c.1388G>T (p.Gly463Val)
 ClinVar
Xg.108625742T>ACA517925358COL4A5c.3054T>A (p.Gly1018=)
n.2510T>A
c.287T>A
c.2730T>A (p.Gly910=)
c.627T>A (p.Gly209=)
c.3069T>A (p.Gly1023=)
c.1389T>A (p.Gly463=)
Xg.108625742T>CCA517925359COL4A5c.3054T>C (p.Gly1018=)
n.2510T>C
c.287T>C
c.2730T>C (p.Gly910=)
c.627T>C (p.Gly209=)
c.3069T>C (p.Gly1023=)
c.1389T>C (p.Gly463=)
Xg.108625742T>GCA517925360COL4A5c.3054T>G (p.Gly1018=)
n.2510T>G
c.287T>G
c.2730T>G (p.Gly910=)
c.627T>G (p.Gly209=)
c.3069T>G (p.Gly1023=)
c.1389T>G (p.Gly463=)
Xg.108625743C>ACA413854593COL4A5c.3055C>A (p.Leu1019Ile)
n.2511C>A
c.288C>A
c.2731C>A (p.Leu911Ile)
c.628C>A (p.Leu210Ile)
c.3070C>A (p.Leu1024Ile)
c.1390C>A (p.Leu464Ile)
Xg.108625743C=CA2450697903COL4A5c.3055C= (p.Leu1019=)
n.2511C=
c.288C=
c.2731C= (p.Leu911=)
c.628C= (p.Leu210=)
c.3070C= (p.Leu1024=)
c.1390C= (p.Leu464=)
Xg.108625743C>GCA413854595COL4A5c.3055C>G (p.Leu1019Val)
n.2511C>G
c.288C>G
c.2731C>G (p.Leu911Val)
c.628C>G (p.Leu210Val)
c.3070C>G (p.Leu1024Val)
c.1390C>G (p.Leu464Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108625743C>TCA413854596COL4A5c.3055C>T (p.Leu1019Phe)
n.2511C>T
c.288C>T
c.2731C>T (p.Leu911Phe)
c.628C>T (p.Leu210Phe)
c.3070C>T (p.Leu1024Phe)
c.1390C>T (p.Leu464Phe)
Xg.108625743_108625744delinsCTCA2450697902COL4A5c.3055_3056delinsCT (p.Leu1019=)
n.2511_2512delinsCT
c.288_289delinsCT
c.2731_2732delinsCT (p.Leu911=)
c.628_629delinsCT (p.Leu210=)
c.3070_3071delinsCT (p.Leu1024=)
c.1390_1391delinsCT (p.Leu464=)
Xg.108625744T>ACA413854599COL4A5c.3056T>A (p.Leu1019His)
n.2512T>A
c.289T>A
c.2732T>A (p.Leu911His)
c.629T>A (p.Leu210His)
c.3071T>A (p.Leu1024His)
c.1391T>A (p.Leu464His)
Xg.108625744T>CCA413854601COL4A5c.3056T>C (p.Leu1019Pro)
n.2512T>C
c.289T>C
c.2732T>C (p.Leu911Pro)
c.629T>C (p.Leu210Pro)
c.3071T>C (p.Leu1024Pro)
c.1391T>C (p.Leu464Pro)
 COSMIC
Xg.108625744T>GCA413854603COL4A5c.3056T>G (p.Leu1019Arg)
n.2512T>G
c.289T>G
c.2732T>G (p.Leu911Arg)
c.629T>G (p.Leu210Arg)
c.3071T>G (p.Leu1024Arg)
c.1391T>G (p.Leu464Arg)
Xg.108625745delCA258799COL4A5c.3057del (p.Ile1020Ter)
n.2513del
c.290del
c.2733del (p.Ile912Ter)
c.630del (p.Ile211Ter)
c.3072del (p.Ile1025Ter)
c.1392del (p.Ile465Ter)
 dbSNP
Xg.108625745T>ACA517925361COL4A5c.3057T>A (p.Leu1019=)
n.2513T>A
c.290T>A
c.2733T>A (p.Leu911=)
c.630T>A (p.Leu210=)
c.3072T>A (p.Leu1024=)
c.1392T>A (p.Leu464=)
 gnomAD v4
Xg.108625745T>CCA517925362COL4A5c.3057T>C (p.Leu1019=)
n.2513T>C
c.290T>C
c.2733T>C (p.Leu911=)
c.630T>C (p.Leu210=)
c.3072T>C (p.Leu1024=)
c.1392T>C (p.Leu464=)
 COSMIC COSMIC
Xg.108625745T>GCA517925363COL4A5c.3057T>G (p.Leu1019=)
n.2513T>G
c.290T>G
c.2733T>G (p.Leu911=)
c.630T>G (p.Leu210=)
c.3072T>G (p.Leu1024=)
c.1392T>G (p.Leu464=)
Xg.108625746A=CA2450697904COL4A5c.3058A= (p.Ile1020=)
n.2514A=
c.291A=
c.2734A= (p.Ile912=)
c.631A= (p.Ile211=)
c.3073A= (p.Ile1025=)
c.1393A= (p.Ile465=)
Xg.108625746A>CCA413854606COL4A5c.3058A>C (p.Ile1020Leu)
n.2514A>C
c.291A>C
c.2734A>C (p.Ile912Leu)
c.631A>C (p.Ile211Leu)
c.3073A>C (p.Ile1025Leu)
c.1393A>C (p.Ile465Leu)
Xg.108625746A>GCA10489025COL4A5c.3058A>G (p.Ile1020Val)
n.2514A>G
c.291A>G
c.2734A>G (p.Ile912Val)
c.631A>G (p.Ile211Val)
c.3073A>G (p.Ile1025Val)
c.1393A>G (p.Ile465Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108625746A>TCA413854608COL4A5c.3058A>T (p.Ile1020Leu)
n.2514A>T
c.291A>T
c.2734A>T (p.Ile912Leu)
c.631A>T (p.Ile211Leu)
c.3073A>T (p.Ile1025Leu)
c.1393A>T (p.Ile465Leu)
Xg.108625747T>ACA413854610COL4A5c.3059T>A (p.Ile1020Lys)
n.2515T>A
c.292T>A
c.2735T>A (p.Ile912Lys)
c.632T>A (p.Ile211Lys)
c.3074T>A (p.Ile1025Lys)
c.1394T>A (p.Ile465Lys)
Xg.108625747T>CCA413854611COL4A5c.3059T>C (p.Ile1020Thr)
n.2515T>C
c.292T>C
c.2735T>C (p.Ile912Thr)
c.632T>C (p.Ile211Thr)
c.3074T>C (p.Ile1025Thr)
c.1394T>C (p.Ile465Thr)
 dbSNP
Xg.108625747T>GCA413854612COL4A5c.3059T>G (p.Ile1020Arg)
n.2515T>G
c.292T>G
c.2735T>G (p.Ile912Arg)
c.632T>G (p.Ile211Arg)
c.3074T>G (p.Ile1025Arg)
c.1394T>G (p.Ile465Arg)
Xg.108625747T=CA2450697905COL4A5c.3059T= (p.Ile1020=)
n.2515T=
c.292T=
c.2735T= (p.Ile912=)
c.632T= (p.Ile211=)
c.3074T= (p.Ile1025=)
c.1394T= (p.Ile465=)
Xg.108625747dupCA2695235752COL4A5c.3059dup (p.Gly1021ArgfsTer6)
n.2515dup
c.292dup
c.2735dup (p.Gly913ArgfsTer6)
c.632dup (p.Gly212ArgfsTer6)
c.3074dup (p.Gly1026ArgfsTer6)
c.1394dup (p.Gly466ArgfsTer6)
Xg.108625748A>CCA517925364COL4A5c.3060A>C (p.Ile1020=)
n.2516A>C
c.293A>C
c.2736A>C (p.Ile912=)
c.633A>C (p.Ile211=)
c.3075A>C (p.Ile1025=)
c.1395A>C (p.Ile465=)
Xg.108625748A>GCA413854615COL4A5c.3060A>G (p.Ile1020Met)
n.2516A>G
c.293A>G
c.2736A>G (p.Ile912Met)
c.633A>G (p.Ile211Met)
c.3075A>G (p.Ile1025Met)
c.1395A>G (p.Ile465Met)
 gnomAD v4
Xg.108625748A>TCA517925365COL4A5c.3060A>T (p.Ile1020=)
n.2516A>T
c.293A>T
c.2736A>T (p.Ile912=)
c.633A>T (p.Ile211=)
c.3075A>T (p.Ile1025=)
c.1395A>T (p.Ile465=)
Xg.108625749G>ACA413854617COL4A5c.3061G>A (p.Gly1021Arg)
n.2517G>A
c.294G>A
c.2737G>A (p.Gly913Arg)
c.634G>A (p.Gly212Arg)
c.3076G>A (p.Gly1026Arg)
c.1396G>A (p.Gly466Arg)
Xg.108625749G>CCA413854620COL4A5c.3061G>C (p.Gly1021Arg)
n.2517G>C
c.294G>C
c.2737G>C (p.Gly913Arg)
c.634G>C (p.Gly212Arg)
c.3076G>C (p.Gly1026Arg)
c.1396G>C (p.Gly466Arg)
Xg.108625749G>TCA413854618COL4A5c.3061G>T (p.Gly1021Ter)
n.2517G>T
c.294G>T
c.2737G>T (p.Gly913Ter)
c.634G>T (p.Gly212Ter)
c.3076G>T (p.Gly1026Ter)
c.1396G>T (p.Gly466Ter)
Xg.108625750G>ACA413854623COL4A5c.3062G>A (p.Gly1021Glu)
n.2518G>A
c.295G>A
c.2738G>A (p.Gly913Glu)
c.635G>A (p.Gly212Glu)
c.3077G>A (p.Gly1026Glu)
c.1397G>A (p.Gly466Glu)
 dbSNP
Xg.108625750G>CCA413854625COL4A5c.3062G>C (p.Gly1021Ala)
n.2518G>C
c.295G>C
c.2738G>C (p.Gly913Ala)
c.635G>C (p.Gly212Ala)
c.3077G>C (p.Gly1026Ala)
c.1397G>C (p.Gly466Ala)
 COSMIC
Xg.108625750G=CA2450697906COL4A5c.3062G= (p.Gly1021=)
n.2518G=
c.295G=
c.2738G= (p.Gly913=)
c.635G= (p.Gly212=)
c.3077G= (p.Gly1026=)
c.1397G= (p.Gly466=)
Xg.108625750G>TCA413854626COL4A5c.3062G>T (p.Gly1021Val)
n.2518G>T
c.295G>T
c.2738G>T (p.Gly913Val)
c.635G>T (p.Gly212Val)
c.3077G>T (p.Gly1026Val)
c.1397G>T (p.Gly466Val)
Xg.108625751A=CA2450697907COL4A5c.3063A= (p.Gly1021=)
n.2519A=
c.296A=
c.2739A= (p.Gly913=)
c.636A= (p.Gly212=)
c.3078A= (p.Gly1026=)
c.1398A= (p.Gly466=)
Xg.108625751A>CCA517925366COL4A5c.3063A>C (p.Gly1021=)
n.2519A>C
c.296A>C
c.2739A>C (p.Gly913=)
c.636A>C (p.Gly212=)
c.3078A>C (p.Gly1026=)
c.1398A>C (p.Gly466=)
 gnomAD v4
Xg.108625751A>GCA517925367COL4A5c.3063A>G (p.Gly1021=)
n.2519A>G
c.296A>G
c.2739A>G (p.Gly913=)
c.636A>G (p.Gly212=)
c.3078A>G (p.Gly1026=)
c.1398A>G (p.Gly466=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108625751A>TCA517925368COL4A5c.3063A>T (p.Gly1021=)
n.2519A>T
c.296A>T
c.2739A>T (p.Gly913=)
c.636A>T (p.Gly212=)
c.3078A>T (p.Gly1026=)
c.1398A>T (p.Gly466=)
Xg.108625752C>ACA413854628COL4A5c.3064C>A (p.Pro1022Thr)
n.2520C>A
c.297C>A
c.2740C>A (p.Pro914Thr)
c.637C>A (p.Pro213Thr)
c.3079C>A (p.Pro1027Thr)
c.1399C>A (p.Pro467Thr)
 dbSNP gnomAD v4
Xg.108625752C=CA2450697908COL4A5c.3064C= (p.Pro1022=)
n.2520C=
c.297C=
c.2740C= (p.Pro914=)
c.637C= (p.Pro213=)
c.3079C= (p.Pro1027=)
c.1399C= (p.Pro467=)
Xg.108625752C>GCA413854630COL4A5c.3064C>G (p.Pro1022Ala)
n.2520C>G
c.297C>G
c.2740C>G (p.Pro914Ala)
c.637C>G (p.Pro213Ala)
c.3079C>G (p.Pro1027Ala)
c.1399C>G (p.Pro467Ala)
Xg.108625752C>TCA413854632COL4A5c.3064C>T (p.Pro1022Ser)
n.2520C>T
c.297C>T
c.2740C>T (p.Pro914Ser)
c.637C>T (p.Pro213Ser)
c.3079C>T (p.Pro1027Ser)
c.1399C>T (p.Pro467Ser)
 gnomAD v4
Xg.108625753C>ACA334052342COL4A5c.3065C>A (p.Pro1022His)
n.2521C>A
c.298C>A
c.2741C>A (p.Pro914His)
c.638C>A (p.Pro213His)
c.3080C>A (p.Pro1027His)
c.1400C>A (p.Pro467His)
 dbSNP
Xg.108625753C=CA2450697909COL4A5c.3065C= (p.Pro1022=)
n.2521C=
c.298C=
c.2741C= (p.Pro914=)
c.638C= (p.Pro213=)
c.3080C= (p.Pro1027=)
c.1400C= (p.Pro467=)
Xg.108625753C>GCA413854634COL4A5c.3065C>G (p.Pro1022Arg)
n.2521C>G
c.298C>G
c.2741C>G (p.Pro914Arg)
c.638C>G (p.Pro213Arg)
c.3080C>G (p.Pro1027Arg)
c.1400C>G (p.Pro467Arg)
Xg.108625753C>TCA413854636COL4A5c.3065C>T (p.Pro1022Leu)
n.2521C>T
c.298C>T
c.2741C>T (p.Pro914Leu)
c.638C>T (p.Pro213Leu)
c.3080C>T (p.Pro1027Leu)
c.1400C>T (p.Pro467Leu)
Xg.108625754T>ACA517925369COL4A5c.3066T>A (p.Pro1022=)
n.2522T>A
c.299T>A
c.2742T>A (p.Pro914=)
c.639T>A (p.Pro213=)
c.3081T>A (p.Pro1027=)
c.1401T>A (p.Pro467=)
Xg.108625754T>CCA517925370COL4A5c.3066T>C (p.Pro1022=)
n.2522T>C
c.299T>C
c.2742T>C (p.Pro914=)
c.639T>C (p.Pro213=)
c.3081T>C (p.Pro1027=)
c.1401T>C (p.Pro467=)
Xg.108625754T>GCA517925372COL4A5c.3066T>G (p.Pro1022=)
n.2522T>G
c.299T>G
c.2742T>G (p.Pro914=)
c.639T>G (p.Pro213=)
c.3081T>G (p.Pro1027=)
c.1401T>G (p.Pro467=)
Xg.108625755C>ACA10489026COL4A5c.3067C>A (p.Pro1023Thr)
n.2523C>A
c.300C>A
c.2743C>A (p.Pro915Thr)
c.640C>A (p.Pro214Thr)
c.3082C>A (p.Pro1028Thr)
c.1402C>A (p.Pro468Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108625755C=CA2450697910COL4A5c.3067C= (p.Pro1023=)
n.2523C=
c.300C=
c.2743C= (p.Pro915=)
c.640C= (p.Pro214=)
c.3082C= (p.Pro1028=)
c.1402C= (p.Pro468=)
Xg.108625755C>GCA413854638COL4A5c.3067C>G (p.Pro1023Ala)
n.2523C>G
c.300C>G
c.2743C>G (p.Pro915Ala)
c.640C>G (p.Pro214Ala)
c.3082C>G (p.Pro1028Ala)
c.1402C>G (p.Pro468Ala)
 gnomAD v4
Xg.108625755C>TCA413854640COL4A5c.3067C>T (p.Pro1023Ser)
n.2523C>T
c.300C>T
c.2743C>T (p.Pro915Ser)
c.640C>T (p.Pro214Ser)
c.3082C>T (p.Pro1028Ser)
c.1402C>T (p.Pro468Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.108625756C>ACA413854644COL4A5c.3068C>A (p.Pro1023His)
n.2524C>A
c.301C>A
c.2744C>A (p.Pro915His)
c.641C>A (p.Pro214His)
c.3083C>A (p.Pro1028His)
c.1403C>A (p.Pro468His)
Xg.108625756C>GCA413854646COL4A5c.3068C>G (p.Pro1023Arg)
n.2524C>G
c.301C>G
c.2744C>G (p.Pro915Arg)
c.641C>G (p.Pro214Arg)
c.3083C>G (p.Pro1028Arg)
c.1403C>G (p.Pro468Arg)
Xg.108625756C>TCA413854642COL4A5c.3068C>T (p.Pro1023Leu)
n.2524C>T
c.301C>T
c.2744C>T (p.Pro915Leu)
c.641C>T (p.Pro214Leu)
c.3083C>T (p.Pro1028Leu)
c.1403C>T (p.Pro468Leu)
Xg.108625757T>ACA517925373COL4A5c.3069T>A (p.Pro1023=)
n.2525T>A
c.302T>A
c.2745T>A (p.Pro915=)
c.642T>A (p.Pro214=)
c.3084T>A (p.Pro1028=)
c.1404T>A (p.Pro468=)
Xg.108625757T>CCA517925374COL4A5c.3069T>C (p.Pro1023=)
n.2525T>C
c.302T>C
c.2745T>C (p.Pro915=)
c.642T>C (p.Pro214=)
c.3084T>C (p.Pro1028=)
c.1404T>C (p.Pro468=)
 dbSNP gnomAD v4
Xg.108625757T>GCA517925375COL4A5c.3069T>G (p.Pro1023=)
n.2525T>G
c.302T>G
c.2745T>G (p.Pro915=)
c.642T>G (p.Pro214=)
c.3084T>G (p.Pro1028=)
c.1404T>G (p.Pro468=)
 COSMIC
Xg.108625757T=CA2450697911COL4A5c.3069T= (p.Pro1023=)
n.2525T=
c.302T=
c.2745T= (p.Pro915=)
c.642T= (p.Pro214=)
c.3084T= (p.Pro1028=)
c.1404T= (p.Pro468=)
Xg.108625758G>ACA413854648COL4A5c.3070G>A (p.Gly1024Arg)
n.2526G>A
c.303G>A
c.2746G>A (p.Gly916Arg)
c.643G>A (p.Gly215Arg)
c.3085G>A (p.Gly1029Arg)
c.1405G>A (p.Gly469Arg)
Xg.108625758G>CCA413854651COL4A5c.3070G>C (p.Gly1024Arg)
n.2526G>C
c.303G>C
c.2746G>C (p.Gly916Arg)
c.643G>C (p.Gly215Arg)
c.3085G>C (p.Gly1029Arg)
c.1405G>C (p.Gly469Arg)
Xg.108625758G>TCA413854650COL4A5c.3070G>T (p.Gly1024Ter)
n.2526G>T
c.303G>T
c.2746G>T (p.Gly916Ter)
c.643G>T (p.Gly215Ter)
c.3085G>T (p.Gly1029Ter)
c.1405G>T (p.Gly469Ter)
Xg.108625761_108625769delCA2697544690COL4A5c.3073_3081del (p.Leu1025_Gly1027del)
n.2529_2537del
c.306_314del
c.2749_2757del (p.Leu917_Gly919del)
c.646_654del (p.Leu216_Gly218del)
c.3088_3096del (p.Leu1030_Gly1032del)
c.1408_1416del (p.Leu470_Gly472del)
 ClinVar
Xg.108625759G>ACA413854653COL4A5c.3071G>A (p.Gly1024Glu)
n.2527G>A
c.304G>A
c.2747G>A (p.Gly916Glu)
c.644G>A (p.Gly215Glu)
c.3086G>A (p.Gly1029Glu)
c.1406G>A (p.Gly469Glu)
Xg.108625759G>CCA413854656COL4A5c.3071G>C (p.Gly1024Ala)
n.2527G>C
c.304G>C
c.2747G>C (p.Gly916Ala)
c.644G>C (p.Gly215Ala)
c.3086G>C (p.Gly1029Ala)
c.1406G>C (p.Gly469Ala)
Xg.108625759G=CA2450697912COL4A5c.3071G= (p.Gly1024=)
n.2527G=
c.304G=
c.2747G= (p.Gly916=)
c.644G= (p.Gly215=)
c.3086G= (p.Gly1029=)
c.1406G= (p.Gly469=)
Xg.108625759G>TCA413854655COL4A5c.3071G>T (p.Gly1024Val)
n.2527G>T
c.304G>T
c.2747G>T (p.Gly916Val)
c.644G>T (p.Gly215Val)
c.3086G>T (p.Gly1029Val)
c.1406G>T (p.Gly469Val)
Xg.108625760delCA2499226322COL4A5c.3072del (p.Gly1027GlufsTer?)
n.2528del
c.305del
c.2748del (p.Gly919GlufsTer?)
c.645del (p.Gly218GlufsTer?)
c.3087del (p.Gly1032GlufsTer?)
c.1407del (p.Gly472GlufsTer?)
 ClinVar dbSNP
Xg.108625760A>CCA517925376COL4A5c.3072A>C (p.Gly1024=)
n.2528A>C
c.305A>C
c.2748A>C (p.Gly916=)
c.645A>C (p.Gly215=)
c.3087A>C (p.Gly1029=)
c.1407A>C (p.Gly469=)
Xg.108625760A>GCA517925377COL4A5c.3072A>G (p.Gly1024=)
n.2528A>G
c.305A>G
c.2748A>G (p.Gly916=)
c.645A>G (p.Gly215=)
c.3087A>G (p.Gly1029=)
c.1407A>G (p.Gly469=)
Xg.108625760A>TCA517925378COL4A5c.3072A>T (p.Gly1024=)
n.2528A>T
c.305A>T
c.2748A>T (p.Gly916=)
c.645A>T (p.Gly215=)
c.3087A>T (p.Gly1029=)
c.1407A>T (p.Gly469=)
Xg.108625761C>ACA413854659COL4A5c.3073C>A (p.Leu1025Ile)
n.2529C>A
c.306C>A
c.2749C>A (p.Leu917Ile)
c.646C>A (p.Leu216Ile)
c.3088C>A (p.Leu1030Ile)
c.1408C>A (p.Leu470Ile)
Xg.108625761C>GCA413854662COL4A5c.3073C>G (p.Leu1025Val)
n.2529C>G
c.306C>G
c.2749C>G (p.Leu917Val)
c.646C>G (p.Leu216Val)
c.3088C>G (p.Leu1030Val)
c.1408C>G (p.Leu470Val)
Xg.108625761C>TCA413854661COL4A5c.3073C>T (p.Leu1025Phe)
n.2529C>T
c.306C>T
c.2749C>T (p.Leu917Phe)
c.646C>T (p.Leu216Phe)
c.3088C>T (p.Leu1030Phe)
c.1408C>T (p.Leu470Phe)
Xg.108625762T>ACA413854665COL4A5c.3074T>A (p.Leu1025His)
n.2530T>A
c.307T>A
c.2750T>A (p.Leu917His)
c.647T>A (p.Leu216His)
c.3089T>A (p.Leu1030His)
c.1409T>A (p.Leu470His)
 gnomAD v4
Xg.108625762T>CCA413854668COL4A5c.3074T>C (p.Leu1025Pro)
n.2530T>C
c.307T>C
c.2750T>C (p.Leu917Pro)
c.647T>C (p.Leu216Pro)
c.3089T>C (p.Leu1030Pro)
c.1409T>C (p.Leu470Pro)
Xg.108625762T>GCA413854666COL4A5c.3074T>G (p.Leu1025Arg)
n.2530T>G
c.307T>G
c.2750T>G (p.Leu917Arg)
c.647T>G (p.Leu216Arg)
c.3089T>G (p.Leu1030Arg)
c.1409T>G (p.Leu470Arg)
 COSMIC
Xg.108625763T>ACA517925379COL4A5c.3075T>A (p.Leu1025=)
n.2531T>A
c.308T>A
c.2751T>A (p.Leu917=)
c.648T>A (p.Leu216=)
c.3090T>A (p.Leu1030=)
c.1410T>A (p.Leu470=)
Xg.108625763T>CCA517925380COL4A5c.3075T>C (p.Leu1025=)
n.2531T>C
c.308T>C
c.2751T>C (p.Leu917=)
c.648T>C (p.Leu216=)
c.3090T>C (p.Leu1030=)
c.1410T>C (p.Leu470=)
Xg.108625763T>GCA517925381COL4A5c.3075T>G (p.Leu1025=)
n.2531T>G
c.308T>G
c.2751T>G (p.Leu917=)
c.648T>G (p.Leu216=)
c.3090T>G (p.Leu1030=)
c.1410T>G (p.Leu470=)
Xg.108625764A>CCA413854670COL4A5c.3076A>C (p.Lys1026Gln)
n.2532A>C
c.309A>C
c.2752A>C (p.Lys918Gln)
c.649A>C (p.Lys217Gln)
c.3091A>C (p.Lys1031Gln)
c.1411A>C (p.Lys471Gln)
 gnomAD v4
Xg.108625764A>GCA413854674COL4A5c.3076A>G (p.Lys1026Glu)
n.2532A>G
c.309A>G
c.2752A>G (p.Lys918Glu)
c.649A>G (p.Lys217Glu)
c.3091A>G (p.Lys1031Glu)
c.1411A>G (p.Lys471Glu)
Xg.108625764A>TCA413854672COL4A5c.3076A>T (p.Lys1026Ter)
n.2532A>T
c.309A>T
c.2752A>T (p.Lys918Ter)
c.649A>T (p.Lys217Ter)
c.3091A>T (p.Lys1031Ter)
c.1411A>T (p.Lys471Ter)
Xg.108625765A>CCA413854676COL4A5c.3077A>C (p.Lys1026Thr)
n.2533A>C
c.310A>C
c.2753A>C (p.Lys918Thr)
c.650A>C (p.Lys217Thr)
c.3092A>C (p.Lys1031Thr)
c.1412A>C (p.Lys471Thr)
 gnomAD v4
Xg.108625765A>GCA413854679COL4A5c.3077A>G (p.Lys1026Arg)
n.2533A>G
c.310A>G
c.2753A>G (p.Lys918Arg)
c.650A>G (p.Lys217Arg)
c.3092A>G (p.Lys1031Arg)
c.1412A>G (p.Lys471Arg)
Xg.108625765A>TCA413854678COL4A5c.3077A>T (p.Lys1026Ile)
n.2533A>T
c.310A>T
c.2753A>T (p.Lys918Ile)
c.650A>T (p.Lys217Ile)
c.3092A>T (p.Lys1031Ile)
c.1412A>T (p.Lys471Ile)
Xg.108625766A>CCA413854681COL4A5c.3078A>C (p.Lys1026Asn)
n.2534A>C
c.311A>C
c.2754A>C (p.Lys918Asn)
c.651A>C (p.Lys217Asn)
c.3093A>C (p.Lys1031Asn)
c.1413A>C (p.Lys471Asn)
Xg.108625766A>GCA517925382COL4A5c.3078A>G (p.Lys1026=)
n.2534A>G
c.311A>G
c.2754A>G (p.Lys918=)
c.651A>G (p.Lys217=)
c.3093A>G (p.Lys1031=)
c.1413A>G (p.Lys471=)
Xg.108625766A>TCA413854683COL4A5c.3078A>T (p.Lys1026Asn)
n.2534A>T
c.311A>T
c.2754A>T (p.Lys918Asn)
c.651A>T (p.Lys217Asn)
c.3093A>T (p.Lys1031Asn)
c.1413A>T (p.Lys471Asn)
Xg.108625767G>ACA413854685COL4A5c.3079G>A (p.Gly1027Arg)
n.2535G>A
c.312G>A
c.2755G>A (p.Gly919Arg)
c.652G>A (p.Gly218Arg)
c.3094G>A (p.Gly1032Arg)
c.1414G>A (p.Gly472Arg)
 ClinVar dbSNP
Xg.108625767G>CCA413854687COL4A5c.3079G>C (p.Gly1027Arg)
n.2535G>C
c.312G>C
c.2755G>C (p.Gly919Arg)
c.652G>C (p.Gly218Arg)
c.3094G>C (p.Gly1032Arg)
c.1414G>C (p.Gly472Arg)
Xg.108625767G>TCA413854688COL4A5c.3079G>T (p.Gly1027Ter)
n.2535G>T
c.312G>T
c.2755G>T (p.Gly919Ter)
c.652G>T (p.Gly218Ter)
c.3094G>T (p.Gly1032Ter)
c.1414G>T (p.Gly472Ter)
Xg.108625768G>ACA413854690COL4A5c.3080G>A (p.Gly1027Glu)
n.2536G>A
c.313G>A
c.2756G>A (p.Gly919Glu)
c.653G>A (p.Gly218Glu)
c.3095G>A (p.Gly1032Glu)
c.1415G>A (p.Gly472Glu)
 ClinVar dbSNP COSMIC
Xg.108625768G>CCA413854692COL4A5c.3080G>C (p.Gly1027Ala)
n.2536G>C
c.313G>C
c.2756G>C (p.Gly919Ala)
c.653G>C (p.Gly218Ala)
c.3095G>C (p.Gly1032Ala)
c.1415G>C (p.Gly472Ala)
Xg.108625768G=CA2450697913COL4A5c.3080G= (p.Gly1027=)
n.2536G=
c.313G=
c.2756G= (p.Gly919=)
c.653G= (p.Gly218=)
c.3095G= (p.Gly1032=)
c.1415G= (p.Gly472=)
Xg.108625768G>TCA258800COL4A5c.3080G>T (p.Gly1027Val)
n.2536G>T
c.313G>T
c.2756G>T (p.Gly919Val)
c.653G>T (p.Gly218Val)
c.3095G>T (p.Gly1032Val)
c.1415G>T (p.Gly472Val)
 dbSNP
Xg.108625769A>CCA517925385COL4A5c.3081A>C (p.Gly1027=)
n.2537A>C
c.314A>C
c.2757A>C (p.Gly919=)
c.654A>C (p.Gly218=)
c.3096A>C (p.Gly1032=)
c.1416A>C (p.Gly472=)
Xg.108625769A>GCA517925384COL4A5c.3081A>G (p.Gly1027=)
n.2537A>G
c.314A>G
c.2757A>G (p.Gly919=)
c.654A>G (p.Gly218=)
c.3096A>G (p.Gly1032=)
c.1416A>G (p.Gly472=)
Xg.108625769A>TCA517925383COL4A5c.3081A>T (p.Gly1027=)
n.2537A>T
c.314A>T
c.2757A>T (p.Gly919=)
c.654A>T (p.Gly218=)
c.3096A>T (p.Gly1032=)
c.1416A>T (p.Gly472=)
 gnomAD v4
Xg.108625770A=CA2450697914COL4A5c.3082A= (p.Thr1028=)
n.2538A=
c.315A=
c.2758A= (p.Thr920=)
c.655A= (p.Thr219=)
c.3097A= (p.Thr1033=)
c.1417A= (p.Thr473=)
Xg.108625770A>CCA413854694COL4A5c.3082A>C (p.Thr1028Pro)
n.2538A>C
c.315A>C
c.2758A>C (p.Thr920Pro)
c.655A>C (p.Thr219Pro)
c.3097A>C (p.Thr1033Pro)
c.1417A>C (p.Thr473Pro)
Xg.108625770A>GCA413854696COL4A5c.3082A>G (p.Thr1028Ala)
n.2538A>G
c.315A>G
c.2758A>G (p.Thr920Ala)
c.655A>G (p.Thr219Ala)
c.3097A>G (p.Thr1033Ala)
c.1417A>G (p.Thr473Ala)
 dbSNP gnomAD v2 gnomAD v4
Xg.108625770A>TCA413854698COL4A5c.3082A>T (p.Thr1028Ser)
n.2538A>T
c.315A>T
c.2758A>T (p.Thr920Ser)
c.655A>T (p.Thr219Ser)
c.3097A>T (p.Thr1033Ser)
c.1417A>T (p.Thr473Ser)
Xg.108625771C>ACA413854703COL4A5c.3083C>A (p.Thr1028Asn)
n.2539C>A
c.316C>A
c.2759C>A (p.Thr920Asn)
c.656C>A (p.Thr219Asn)
c.3098C>A (p.Thr1033Asn)
c.1418C>A (p.Thr473Asn)
 COSMIC COSMIC
Xg.108625771C>GCA413854700COL4A5c.3083C>G (p.Thr1028Ser)
n.2539C>G
c.316C>G
c.2759C>G (p.Thr920Ser)
c.656C>G (p.Thr219Ser)
c.3098C>G (p.Thr1033Ser)
c.1418C>G (p.Thr473Ser)
Xg.108625771C>TCA413854702COL4A5c.3083C>T (p.Thr1028Ile)
n.2539C>T
c.316C>T
c.2759C>T (p.Thr920Ile)
c.656C>T (p.Thr219Ile)
c.3098C>T (p.Thr1033Ile)
c.1418C>T (p.Thr473Ile)
Xg.108625772C>ACA517925386COL4A5c.3084C>A (p.Thr1028=)
n.2540C>A
c.317C>A
c.2760C>A (p.Thr920=)
c.657C>A (p.Thr219=)
c.3099C>A (p.Thr1033=)
c.1419C>A (p.Thr473=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108625772C=CA2450697915COL4A5c.3084C= (p.Thr1028=)
n.2540C=
c.317C=
c.2760C= (p.Thr920=)
c.657C= (p.Thr219=)
c.3099C= (p.Thr1033=)
c.1419C= (p.Thr473=)
Xg.108625772C>GCA517925387COL4A5c.3084C>G (p.Thr1028=)
n.2540C>G
c.317C>G
c.2760C>G (p.Thr920=)
c.657C>G (p.Thr219=)
c.3099C>G (p.Thr1033=)
c.1419C>G (p.Thr473=)
Xg.108625772C>TCA10489027COL4A5c.3084C>T (p.Thr1028=)
n.2540C>T
c.317C>T
c.2760C>T (p.Thr920=)
c.657C>T (p.Thr219=)
c.3099C>T (p.Thr1033=)
c.1419C>T (p.Thr473=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108625773A>CCA413854706COL4A5c.3085A>C (p.Ile1029Leu)
n.2541A>C
c.318A>C
c.2761A>C (p.Ile921Leu)
c.658A>C (p.Ile220Leu)
c.3100A>C (p.Ile1034Leu)
c.1420A>C (p.Ile474Leu)
Xg.108625773A>GCA413854708COL4A5c.3085A>G (p.Ile1029Val)
n.2541A>G
c.318A>G
c.2761A>G (p.Ile921Val)
c.658A>G (p.Ile220Val)
c.3100A>G (p.Ile1034Val)
c.1420A>G (p.Ile474Val)
 ClinVar gnomAD v4
Xg.108625773A>TCA413854710COL4A5c.3085A>T (p.Ile1029Phe)
n.2541A>T
c.318A>T
c.2761A>T (p.Ile921Phe)
c.658A>T (p.Ile220Phe)
c.3100A>T (p.Ile1034Phe)
c.1420A>T (p.Ile474Phe)
 ClinVar dbSNP
Xg.108625775_108625781delCA2573159097COL4A5c.3087_3093del (p.Gly1030TrpfsTer?)
n.2543_2549del
c.320_326del
c.2763_2769del (p.Gly922TrpfsTer?)
c.660_666del (p.Gly221TrpfsTer?)
c.3102_3108del (p.Gly1035TrpfsTer?)
c.1422_1428del (p.Gly475TrpfsTer?)
 ClinVar dbSNP
Xg.108625774T>ACA413854712COL4A5c.3086T>A (p.Ile1029Asn)
n.2542T>A
c.319T>A
c.2762T>A (p.Ile921Asn)
c.659T>A (p.Ile220Asn)
c.3101T>A (p.Ile1034Asn)
c.1421T>A (p.Ile474Asn)
Xg.108625774T>CCA413854713COL4A5c.3086T>C (p.Ile1029Thr)
n.2542T>C
c.319T>C
c.2762T>C (p.Ile921Thr)
c.659T>C (p.Ile220Thr)
c.3101T>C (p.Ile1034Thr)
c.1421T>C (p.Ile474Thr)
Xg.108625774T>GCA413854715COL4A5c.3086T>G (p.Ile1029Ser)
n.2542T>G
c.319T>G
c.2762T>G (p.Ile921Ser)
c.659T>G (p.Ile220Ser)
c.3101T>G (p.Ile1034Ser)
c.1421T>G (p.Ile474Ser)
Xg.108625775delCA2579676636COL4A5c.3087del (p.Ile1029MetfsTer?)
n.2543del
c.320del
c.2763del (p.Ile921MetfsTer?)
c.660del (p.Ile220MetfsTer?)
c.3102del (p.Ile1034MetfsTer?)
c.1422del (p.Ile474MetfsTer?)
Xg.108625775C>ACA517925388COL4A5c.3087C>A (p.Ile1029=)
n.2543C>A
c.320C>A
c.2763C>A (p.Ile921=)
c.660C>A (p.Ile220=)
c.3102C>A (p.Ile1034=)
c.1422C>A (p.Ile474=)
Xg.108625775C=CA2450697916COL4A5c.3087C= (p.Ile1029=)
n.2543C=
c.320C=
c.2763C= (p.Ile921=)
c.660C= (p.Ile220=)
c.3102C= (p.Ile1034=)
c.1422C= (p.Ile474=)
Xg.108625775C>GCA413854717COL4A5c.3087C>G (p.Ile1029Met)
n.2543C>G
c.320C>G
c.2763C>G (p.Ile921Met)
c.660C>G (p.Ile220Met)
c.3102C>G (p.Ile1034Met)
c.1422C>G (p.Ile474Met)
Xg.108625775C>TCA10489028COL4A5c.3087C>T (p.Ile1029=)
n.2543C>T
c.320C>T
c.2763C>T (p.Ile921=)
c.660C>T (p.Ile220=)
c.3102C>T (p.Ile1034=)
c.1422C>T (p.Ile474=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.108625776G>ACA258803COL4A5c.3088G>A (p.Gly1030Ser)
n.2544G>A
c.321G>A
c.2764G>A (p.Gly922Ser)
c.661G>A (p.Gly221Ser)
c.3103G>A (p.Gly1035Ser)
c.1423G>A (p.Gly475Ser)
 ClinVar dbSNP gnomAD v4
Xg.108625776G>CCA413854721COL4A5c.3088G>C (p.Gly1030Arg)
n.2544G>C
c.321G>C
c.2764G>C (p.Gly922Arg)
c.661G>C (p.Gly221Arg)
c.3103G>C (p.Gly1035Arg)
c.1423G>C (p.Gly475Arg)
Xg.108625776G=CA2450697917COL4A5c.3088G= (p.Gly1030=)
n.2544G=
c.321G=
c.2764G= (p.Gly922=)
c.661G= (p.Gly221=)
c.3103G= (p.Gly1035=)
c.1423G= (p.Gly475=)
Xg.108625776G>TCA413854719COL4A5c.3088G>T (p.Gly1030Cys)
n.2544G>T
c.321G>T
c.2764G>T (p.Gly922Cys)
c.661G>T (p.Gly221Cys)
c.3103G>T (p.Gly1035Cys)
c.1423G>T (p.Gly475Cys)
Xg.108625777G>ACA413854724COL4A5c.3089G>A (p.Gly1030Asp)
n.2545G>A
c.322G>A
c.2765G>A (p.Gly922Asp)
c.662G>A (p.Gly221Asp)
c.3104G>A (p.Gly1035Asp)
c.1424G>A (p.Gly475Asp)
Xg.108625777G>CCA413854725COL4A5c.3089G>C (p.Gly1030Ala)
n.2545G>C
c.322G>C
c.2765G>C (p.Gly922Ala)
c.662G>C (p.Gly221Ala)
c.3104G>C (p.Gly1035Ala)
c.1424G>C (p.Gly475Ala)
Xg.108625777G>TCA413854727COL4A5c.3089G>T (p.Gly1030Val)
n.2545G>T
c.322G>T
c.2765G>T (p.Gly922Val)
c.662G>T (p.Gly221Val)
c.3104G>T (p.Gly1035Val)
c.1424G>T (p.Gly475Val)
Xg.108625778T>ACA517925389COL4A5c.3090T>A (p.Gly1030=)
n.2546T>A
c.323T>A
c.2766T>A (p.Gly922=)
c.663T>A (p.Gly221=)
c.3105T>A (p.Gly1035=)
c.1425T>A (p.Gly475=)
Xg.108625778T>CCA517925390COL4A5c.3090T>C (p.Gly1030=)
n.2546T>C
c.323T>C
c.2766T>C (p.Gly922=)
c.663T>C (p.Gly221=)
c.3105T>C (p.Gly1035=)
c.1425T>C (p.Gly475=)
Xg.108625778T>GCA517925391COL4A5c.3090T>G (p.Gly1030=)
n.2546T>G
c.323T>G
c.2766T>G (p.Gly922=)
c.663T>G (p.Gly221=)
c.3105T>G (p.Gly1035=)
c.1425T>G (p.Gly475=)
Xg.108625779G>ACA413854729COL4A5c.3091G>A (p.Asp1031Asn)
n.2547G>A
c.324G>A
c.2767G>A (p.Asp923Asn)
c.664G>A (p.Asp222Asn)
c.3106G>A (p.Asp1036Asn)
c.1426G>A (p.Asp476Asn)
Xg.108625779G>CCA413854730COL4A5c.3091G>C (p.Asp1031His)
n.2547G>C
c.324G>C
c.2767G>C (p.Asp923His)
c.664G>C (p.Asp222His)
c.3106G>C (p.Asp1036His)
c.1426G>C (p.Asp476His)
Xg.108625779G>TCA413854732COL4A5c.3091G>T (p.Asp1031Tyr)
n.2547G>T
c.324G>T
c.2767G>T (p.Asp923Tyr)
c.664G>T (p.Asp222Tyr)
c.3106G>T (p.Asp1036Tyr)
c.1426G>T (p.Asp476Tyr)
Xg.108625780A=CA2450697918COL4A5c.3092A= (p.Asp1031=)
n.2548A=
c.325A=
c.2768A= (p.Asp923=)
c.665A= (p.Asp222=)
c.3107A= (p.Asp1036=)
c.1427A= (p.Asp476=)
Xg.108625780A>CCA413854734COL4A5c.3092A>C (p.Asp1031Ala)
n.2548A>C
c.325A>C
c.2768A>C (p.Asp923Ala)
c.665A>C (p.Asp222Ala)
c.3107A>C (p.Asp1036Ala)
c.1427A>C (p.Asp476Ala)
Xg.108625780A>GCA413854735COL4A5c.3092A>G (p.Asp1031Gly)
n.2548A>G
c.325A>G
c.2768A>G (p.Asp923Gly)
c.665A>G (p.Asp222Gly)
c.3107A>G (p.Asp1036Gly)
c.1427A>G (p.Asp476Gly)
 dbSNP gnomAD v4
Xg.108625780A>TCA413854738COL4A5c.3092A>T (p.Asp1031Val)
n.2548A>T
c.325A>T
c.2768A>T (p.Asp923Val)
c.665A>T (p.Asp222Val)
c.3107A>T (p.Asp1036Val)
c.1427A>T (p.Asp476Val)
Xg.108625782_108625783delCA2695235753COL4A5c.3094_3095del (p.Met1032GlyfsTer?)
n.2550_2551del
c.327_328del
c.2770_2771del (p.Met924GlyfsTer?)
c.667_668del (p.Met223GlyfsTer?)
c.3109_3110del (p.Met1037GlyfsTer?)
c.1429_1430del (p.Met477GlyfsTer?)
Xg.108625781T>ACA413854740COL4A5c.3093T>A (p.Asp1031Glu)
n.2549T>A
c.326T>A
c.2769T>A (p.Asp923Glu)
c.666T>A (p.Asp222Glu)
c.3108T>A (p.Asp1036Glu)
c.1428T>A (p.Asp476Glu)
Xg.108625781T>CCA517925392COL4A5c.3093T>C (p.Asp1031=)
n.2549T>C
c.326T>C
c.2769T>C (p.Asp923=)
c.666T>C (p.Asp222=)
c.3108T>C (p.Asp1036=)
c.1428T>C (p.Asp476=)
Xg.108625781T>GCA413854743COL4A5c.3093T>G (p.Asp1031Glu)
n.2549T>G
c.326T>G
c.2769T>G (p.Asp923Glu)
c.666T>G (p.Asp222Glu)
c.3108T>G (p.Asp1036Glu)
c.1428T>G (p.Asp476Glu)
Xg.108625782A=CA2450697919COL4A5c.3094A= (p.Met1032=)
n.2550A=
c.327A=
c.2770A= (p.Met924=)
c.667A= (p.Met223=)
c.3109A= (p.Met1037=)
c.1429A= (p.Met477=)
Xg.108625782A>CCA413854749COL4A5c.3094A>C (p.Met1032Leu)
n.2550A>C
c.327A>C
c.2770A>C (p.Met924Leu)
c.667A>C (p.Met223Leu)
c.3109A>C (p.Met1037Leu)
c.1429A>C (p.Met477Leu)
Xg.108625782A>GCA413854747COL4A5c.3094A>G (p.Met1032Val)
n.2550A>G
c.327A>G
c.2770A>G (p.Met924Val)
c.667A>G (p.Met223Val)
c.3109A>G (p.Met1037Val)
c.1429A>G (p.Met477Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.108625782A>TCA413854745COL4A5c.3094A>T (p.Met1032Leu)
n.2550A>T
c.327A>T
c.2770A>T (p.Met924Leu)
c.667A>T (p.Met223Leu)
c.3109A>T (p.Met1037Leu)
c.1429A>T (p.Met477Leu)
Xg.108625783T>ACA413854751COL4A5c.3095T>A (p.Met1032Lys)
n.2551T>A
c.328T>A
c.2771T>A (p.Met924Lys)
c.668T>A (p.Met223Lys)
c.3110T>A (p.Met1037Lys)
c.1430T>A (p.Met477Lys)
Xg.108625783T>CCA10489029COL4A5c.3095T>C (p.Met1032Thr)
n.2551T>C
c.328T>C
c.2771T>C (p.Met924Thr)
c.668T>C (p.Met223Thr)
c.3110T>C (p.Met1037Thr)
c.1430T>C (p.Met477Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108625783T>GCA413854753COL4A5c.3095T>G (p.Met1032Arg)
n.2551T>G
c.328T>G
c.2771T>G (p.Met924Arg)
c.668T>G (p.Met223Arg)
c.3110T>G (p.Met1037Arg)
c.1430T>G (p.Met477Arg)
Xg.108625783T=CA2450697920COL4A5c.3095T= (p.Met1032=)
n.2551T=
c.328T=
c.2771T= (p.Met924=)
c.668T= (p.Met223=)
c.3110T= (p.Met1037=)
c.1430T= (p.Met477=)
Xg.108625784G>ACA413854755COL4A5c.3096G>A (p.Met1032Ile)
n.2552G>A
c.329G>A
c.2772G>A (p.Met924Ile)
c.669G>A (p.Met223Ile)
c.3111G>A (p.Met1037Ile)
c.1431G>A (p.Met477Ile)
 dbSNP
Xg.108625784G>CCA413854757COL4A5c.3096G>C (p.Met1032Ile)
n.2552G>C
c.329G>C
c.2772G>C (p.Met924Ile)
c.669G>C (p.Met223Ile)
c.3111G>C (p.Met1037Ile)
c.1431G>C (p.Met477Ile)
Xg.108625784G=CA2450697921COL4A5c.3096G= (p.Met1032=)
n.2552G=
c.329G=
c.2772G= (p.Met924=)
c.669G= (p.Met223=)
c.3111G= (p.Met1037=)
c.1431G= (p.Met477=)
Xg.108625784G>TCA413854759COL4A5c.3096G>T (p.Met1032Ile)
n.2552G>T
c.329G>T
c.2772G>T (p.Met924Ile)
c.669G>T (p.Met223Ile)
c.3111G>T (p.Met1037Ile)
c.1431G>T (p.Met477Ile)
Xg.108625785G>ACA413854761COL4A5c.3097G>A (p.Gly1033Ser)
n.2553G>A
c.330G>A
c.2773G>A (p.Gly925Ser)
c.670G>A (p.Gly224Ser)
c.3112G>A (p.Gly1038Ser)
c.1432G>A (p.Gly478Ser)
 ClinVar
Xg.108625785G>CCA413854763COL4A5c.3097G>C (p.Gly1033Arg)
n.2553G>C
c.330G>C
c.2773G>C (p.Gly925Arg)
c.670G>C (p.Gly224Arg)
c.3112G>C (p.Gly1038Arg)
c.1432G>C (p.Gly478Arg)
Xg.108625785G>TCA413854765COL4A5c.3097G>T (p.Gly1033Cys)
n.2553G>T
c.330G>T
c.2773G>T (p.Gly925Cys)
c.670G>T (p.Gly224Cys)
c.3112G>T (p.Gly1038Cys)
c.1432G>T (p.Gly478Cys)
 ClinVar
Xg.108625786G>ACA413854767COL4A5c.3098G>A (p.Gly1033Asp)
n.2554G>A
c.331G>A
c.2774G>A (p.Gly925Asp)
c.671G>A (p.Gly224Asp)
c.3113G>A (p.Gly1038Asp)
c.1433G>A (p.Gly478Asp)
 ClinVar
Xg.108625786G>CCA413854769COL4A5c.3098G>C (p.Gly1033Ala)
n.2554G>C
c.331G>C
c.2774G>C (p.Gly925Ala)
c.671G>C (p.Gly224Ala)
c.3113G>C (p.Gly1038Ala)
c.1433G>C (p.Gly478Ala)
Xg.108625786G>TCA413854770COL4A5c.3098G>T (p.Gly1033Val)
n.2554G>T
c.331G>T
c.2774G>T (p.Gly925Val)
c.671G>T (p.Gly224Val)
c.3113G>T (p.Gly1038Val)
c.1433G>T (p.Gly478Val)
 ClinVar
Xg.108625787T>ACA517925395COL4A5c.3099T>A (p.Gly1033=)
n.2555T>A
c.332T>A
c.2775T>A (p.Gly925=)
c.672T>A (p.Gly224=)
c.3114T>A (p.Gly1038=)
c.1434T>A (p.Gly478=)
Xg.108625787T>CCA517925393COL4A5c.3099T>C (p.Gly1033=)
n.2555T>C
c.332T>C
c.2775T>C (p.Gly925=)
c.672T>C (p.Gly224=)
c.3114T>C (p.Gly1038=)
c.1434T>C (p.Gly478=)
Xg.108625787T>GCA517925394COL4A5c.3099T>G (p.Gly1033=)
n.2555T>G
c.332T>G
c.2775T>G (p.Gly925=)
c.672T>G (p.Gly224=)
c.3114T>G (p.Gly1038=)
c.1434T>G (p.Gly478=)
Xg.108625790delCA2579676637COL4A5c.3102del (p.Pro1035GlnfsTer?)
n.2558del
c.335del
c.2778del (p.Pro927GlnfsTer?)
c.675del (p.Pro226GlnfsTer?)
c.3117del (p.Pro1040GlnfsTer?)
c.1437del (p.Pro480GlnfsTer?)
Xg.108625788T>ACA413854773COL4A5c.3100T>A (p.Phe1034Ile)
n.2556T>A
c.333T>A
c.2776T>A (p.Phe926Ile)
c.673T>A (p.Phe225Ile)
c.3115T>A (p.Phe1039Ile)
c.1435T>A (p.Phe479Ile)
Xg.108625788T>CCA413854775COL4A5c.3100T>C (p.Phe1034Leu)
n.2556T>C
c.333T>C
c.2776T>C (p.Phe926Leu)
c.673T>C (p.Phe225Leu)
c.3115T>C (p.Phe1039Leu)
c.1435T>C (p.Phe479Leu)
 gnomAD v4
Xg.108625788T>GCA413854771COL4A5c.3100T>G (p.Phe1034Val)
n.2556T>G
c.333T>G
c.2776T>G (p.Phe926Val)
c.673T>G (p.Phe225Val)
c.3115T>G (p.Phe1039Val)
c.1435T>G (p.Phe479Val)
Xg.108625789T>ACA413854780COL4A5c.3101T>A (p.Phe1034Tyr)
n.2557T>A
c.334T>A
c.2777T>A (p.Phe926Tyr)
c.674T>A (p.Phe225Tyr)
c.3116T>A (p.Phe1039Tyr)
c.1436T>A (p.Phe479Tyr)
Xg.108625789T>CCA413854777COL4A5c.3101T>C (p.Phe1034Ser)
n.2557T>C
c.334T>C
c.2777T>C (p.Phe926Ser)
c.674T>C (p.Phe225Ser)
c.3116T>C (p.Phe1039Ser)
c.1436T>C (p.Phe479Ser)
Xg.108625789T>GCA413854779COL4A5c.3101T>G (p.Phe1034Cys)
n.2557T>G
c.334T>G
c.2777T>G (p.Phe926Cys)
c.674T>G (p.Phe225Cys)
c.3116T>G (p.Phe1039Cys)
c.1436T>G (p.Phe479Cys)
Xg.108625790T>ACA413854782COL4A5c.3102T>A (p.Phe1034Leu)
n.2558T>A
c.335T>A
c.2778T>A (p.Phe926Leu)
c.675T>A (p.Phe225Leu)
c.3117T>A (p.Phe1039Leu)
c.1437T>A (p.Phe479Leu)
Xg.108625790T>CCA517925396COL4A5c.3102T>C (p.Phe1034=)
n.2558T>C
c.335T>C
c.2778T>C (p.Phe926=)
c.675T>C (p.Phe225=)
c.3117T>C (p.Phe1039=)
c.1437T>C (p.Phe479=)
Xg.108625790T>GCA413854784COL4A5c.3102T>G (p.Phe1034Leu)
n.2558T>G
c.335T>G
c.2778T>G (p.Phe926Leu)
c.675T>G (p.Phe225Leu)
c.3117T>G (p.Phe1039Leu)
c.1437T>G (p.Phe479Leu)
Xg.108625791C>ACA413854785COL4A5c.3103C>A (p.Pro1035Thr)
n.2559C>A
c.336C>A
c.2779C>A (p.Pro927Thr)
c.676C>A (p.Pro226Thr)
c.3118C>A (p.Pro1040Thr)
c.1438C>A (p.Pro480Thr)
Xg.108625791C>GCA413854787COL4A5c.3103C>G (p.Pro1035Ala)
n.2559C>G
c.336C>G
c.2779C>G (p.Pro927Ala)
c.676C>G (p.Pro226Ala)
c.3118C>G (p.Pro1040Ala)
c.1438C>G (p.Pro480Ala)
Xg.108625791C>TCA413854789COL4A5c.3103C>T (p.Pro1035Ser)
n.2559C>T
c.336C>T
c.2779C>T (p.Pro927Ser)
c.676C>T (p.Pro226Ser)
c.3118C>T (p.Pro1040Ser)
c.1438C>T (p.Pro480Ser)
Xg.108625792delCA2579676638COL4A5c.3104del (p.Pro1035GlnfsTer?)
n.2560del
c.337del
c.2780del (p.Pro927GlnfsTer?)
c.677del (p.Pro226GlnfsTer?)
c.3119del (p.Pro1040GlnfsTer?)
c.1439del (p.Pro480GlnfsTer?)
 gnomAD v4
Xg.108625792C>ACA413854791COL4A5c.3104C>A (p.Pro1035Gln)
n.2560C>A
c.337C>A
c.2780C>A (p.Pro927Gln)
c.677C>A (p.Pro226Gln)
c.3119C>A (p.Pro1040Gln)
c.1439C>A (p.Pro480Gln)
Xg.108625792C>GCA413854793COL4A5c.3104C>G (p.Pro1035Arg)
n.2560C>G
c.337C>G
c.2780C>G (p.Pro927Arg)
c.677C>G (p.Pro226Arg)
c.3119C>G (p.Pro1040Arg)
c.1439C>G (p.Pro480Arg)
Xg.108625792C>TCA413854794COL4A5c.3104C>T (p.Pro1035Leu)
n.2560C>T
c.337C>T
c.2780C>T (p.Pro927Leu)
c.677C>T (p.Pro226Leu)
c.3119C>T (p.Pro1040Leu)
c.1439C>T (p.Pro480Leu)
Xg.108625793A>CCA517925398COL4A5c.3105A>C (p.Pro1035=)
n.2561A>C
c.338A>C
c.2781A>C (p.Pro927=)
c.678A>C (p.Pro226=)
c.3120A>C (p.Pro1040=)
c.1440A>C (p.Pro480=)
Xg.108625793A>GCA517925399COL4A5c.3105A>G (p.Pro1035=)
n.2561A>G
c.338A>G
c.2781A>G (p.Pro927=)
c.678A>G (p.Pro226=)
c.3120A>G (p.Pro1040=)
c.1440A>G (p.Pro480=)
 gnomAD v4
Xg.108625793A>TCA517925397COL4A5c.3105A>T (p.Pro1035=)
n.2561A>T
c.338A>T
c.2781A>T (p.Pro927=)
c.678A>T (p.Pro226=)
c.3120A>T (p.Pro1040=)
c.1440A>T (p.Pro480=)
Xg.108625794G>ACA413854795COL4A5c.3106G>A (p.Gly1036Arg)
n.2562G>A
c.339G>A
c.2782G>A (p.Gly928Arg)
c.679G>A (p.Gly227Arg)
c.3121G>A (p.Gly1041Arg)
c.1441G>A (p.Gly481Arg)
Xg.108625794G>CCA413854797COL4A5c.3106G>C (p.Gly1036Arg)
n.2562G>C
c.339G>C
c.2782G>C (p.Gly928Arg)
c.679G>C (p.Gly227Arg)
c.3121G>C (p.Gly1041Arg)
c.1441G>C (p.Gly481Arg)
 ClinVar dbSNP
Xg.108625794G>TCA413854798COL4A5c.3106G>T (p.Gly1036Trp)
n.2562G>T
c.339G>T
c.2782G>T (p.Gly928Trp)
c.679G>T (p.Gly227Trp)
c.3121G>T (p.Gly1041Trp)
c.1441G>T (p.Gly481Trp)
Xg.108625795G>ACA413854803COL4A5c.3106+1G>A (n.3106+1G>A)
n.2562+1G>A
c.339+1G>A
c.2782+1G>A (n.2782+1G>A)
c.679+1G>A (n.679+1G>A)
c.3121+1G>A (n.3121+1G>A)
c.1441+1G>A (n.1441+1G>A)
 ClinVar dbSNP
Xg.108625795G>CCA413854800COL4A5c.3106+1G>C (n.3106+1G>C)
n.2562+1G>C
c.339+1G>C
c.2782+1G>C (n.2782+1G>C)
c.679+1G>C (n.679+1G>C)
c.3121+1G>C (n.3121+1G>C)
c.1441+1G>C (n.1441+1G>C)
Xg.108625795G>TCA413854802COL4A5c.3106+1G>T (n.3106+1G>T)
n.2562+1G>T
c.339+1G>T
c.2782+1G>T (n.2782+1G>T)
c.679+1G>T (n.679+1G>T)
c.3121+1G>T (n.3121+1G>T)
c.1441+1G>T (n.1441+1G>T)
Xg.108625796T>ACA413854805COL4A5c.3106+2T>A (n.3106+2T>A)
n.2562+2T>A
c.339+2T>A
c.2782+2T>A (n.2782+2T>A)
c.679+2T>A (n.679+2T>A)
c.3121+2T>A (n.3121+2T>A)
c.1441+2T>A (n.1441+2T>A)
Xg.108625796T>CCA413854807COL4A5c.3106+2T>C (n.3106+2T>C)
n.2562+2T>C
c.339+2T>C
c.2782+2T>C (n.2782+2T>C)
c.679+2T>C (n.679+2T>C)
c.3121+2T>C (n.3121+2T>C)
c.1441+2T>C (n.1441+2T>C)
 gnomAD v4
Xg.108625796T>GCA413854808COL4A5c.3106+2T>G (n.3106+2T>G)
n.2562+2T>G
c.339+2T>G
c.2782+2T>G (n.2782+2T>G)
c.679+2T>G (n.679+2T>G)
c.3121+2T>G (n.3121+2T>G)
c.1441+2T>G (n.1441+2T>G)
Xg.108625797G>ACA2694440526COL4A5c.3106+3G>A (n.3106+3G>A)
n.2562+3G>A
c.339+3G>A
c.2782+3G>A (n.2782+3G>A)
c.679+3G>A (n.679+3G>A)
c.3121+3G>A (n.3121+3G>A)
c.1441+3G>A (n.1441+3G>A)
 gnomAD v4
Xg.108625798delCA2695235754COL4A5c.3106+4del (n.3106+4del)
n.2562+4del
c.339+4del
c.2782+4del (n.2782+4del)
c.679+4del (n.679+4del)
c.3121+4del (n.3121+4del)
c.1441+4del (n.1441+4del)
Xg.108625800T>ACA2579676639COL4A5c.3106+6T>A (n.3106+6T>A)
n.2562+6T>A
c.339+6T>A
c.2782+6T>A (n.2782+6T>A)
c.679+6T>A (n.679+6T>A)
c.3121+6T>A (n.3121+6T>A)
c.1441+6T>A (n.1441+6T>A)
Xg.108625803_108625805dupCA2580612311COL4A5c.3106+9_3106+11dup (n.3106+9_3106+11dup)
n.2562+9_2562+11dup
c.339+9_339+11dup
c.2782+9_2782+11dup (n.2782+9_2782+11dup)
c.679+9_679+11dup (n.679+9_679+11dup)
c.3121+9_3121+11dup (n.3121+9_3121+11dup)
c.1441+9_1441+11dup (n.1441+9_1441+11dup)
 ClinVar
Xg.108625801_108625812delCA2695235755COL4A5c.3106+7_3106+18del (n.3106+7_3106+18del)
n.2562+7_2562+18del
c.339+7_339+18del
c.2782+7_2782+18del (n.2782+7_2782+18del)
c.679+7_679+18del (n.679+7_679+18del)
c.3121+7_3121+18del (n.3121+7_3121+18del)
c.1441+7_1441+18del (n.1441+7_1441+18del)

Number of alleles fetched