Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108624197A=CA2450697313COL4A5c.2918-39A= (n.2918-39A=)
n.2374-39A=
c.151-39A=
c.2594-39A= (n.2594-39A=)
c.491-39A= (n.491-39A=)
c.2933-39A= (n.2933-39A=)
c.1253-39A= (n.1253-39A=)
Xg.108624197A>TCA643630603COL4A5c.2918-39A>T (n.2918-39A>T)
n.2374-39A>T
c.151-39A>T
c.2594-39A>T (n.2594-39A>T)
c.491-39A>T (n.491-39A>T)
c.2933-39A>T (n.2933-39A>T)
c.1253-39A>T (n.1253-39A>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108624198_108624201delinsTATCCA2450697314COL4A5c.2918-38_2918-35delinsTATC (n.2918-38_2918-35delinsTATC)
n.2374-38_2374-35delinsTATC
c.151-38_151-35delinsTATC
c.2594-38_2594-35delinsTATC (n.2594-38_2594-35delinsTATC)
c.491-38_491-35delinsTATC (n.491-38_491-35delinsTATC)
c.2933-38_2933-35delinsTATC (n.2933-38_2933-35delinsTATC)
c.1253-38_1253-35delinsTATC (n.1253-38_1253-35delinsTATC)
Xg.108624199A=CA2450697315COL4A5c.2918-37A= (n.2918-37A=)
n.2374-37A=
c.151-37A=
c.2594-37A= (n.2594-37A=)
c.491-37A= (n.491-37A=)
c.2933-37A= (n.2933-37A=)
c.1253-37A= (n.1253-37A=)
Xg.108624199A>GCA643630604COL4A5c.2918-37A>G (n.2918-37A>G)
n.2374-37A>G
c.151-37A>G
c.2594-37A>G (n.2594-37A>G)
c.491-37A>G (n.491-37A>G)
c.2933-37A>G (n.2933-37A>G)
c.1253-37A>G (n.1253-37A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108624202_108624204delCA10489001COL4A5c.2918-34_2918-32del (n.2918-34_2918-32del)
n.2374-34_2374-32del
c.151-34_151-32del
c.2594-34_2594-32del (n.2594-34_2594-32del)
c.491-34_491-32del (n.491-34_491-32del)
c.2933-34_2933-32del (n.2933-34_2933-32del)
c.1253-34_1253-32del (n.1253-34_1253-32del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108624201C>ACA2516498226COL4A5c.2918-35C>A (n.2918-35C>A)
n.2374-35C>A
c.151-35C>A
c.2594-35C>A (n.2594-35C>A)
c.491-35C>A (n.491-35C>A)
c.2933-35C>A (n.2933-35C>A)
c.1253-35C>A (n.1253-35C>A)
 gnomAD v4
Xg.108624201C>GCA2694440371COL4A5c.2918-35C>G (n.2918-35C>G)
n.2374-35C>G
c.151-35C>G
c.2594-35C>G (n.2594-35C>G)
c.491-35C>G (n.491-35C>G)
c.2933-35C>G (n.2933-35C>G)
c.1253-35C>G (n.1253-35C>G)
 gnomAD v4
Xg.108624201C>TCA2694440370COL4A5c.2918-35C>T (n.2918-35C>T)
n.2374-35C>T
c.151-35C>T
c.2594-35C>T (n.2594-35C>T)
c.491-35C>T (n.491-35C>T)
c.2933-35C>T (n.2933-35C>T)
c.1253-35C>T (n.1253-35C>T)
 gnomAD v4
Xg.108624202A=CA2450697316COL4A5c.2918-34A= (n.2918-34A=)
n.2374-34A=
c.151-34A=
c.2594-34A= (n.2594-34A=)
c.491-34A= (n.491-34A=)
c.2933-34A= (n.2933-34A=)
c.1253-34A= (n.1253-34A=)
Xg.108624202A>GCA869815286COL4A5c.2918-34A>G (n.2918-34A>G)
n.2374-34A>G
c.151-34A>G
c.2594-34A>G (n.2594-34A>G)
c.491-34A>G (n.491-34A>G)
c.2933-34A>G (n.2933-34A>G)
c.1253-34A>G (n.1253-34A>G)
 dbSNP
Xg.108624203T>CCA2694440372COL4A5c.2918-33T>C (n.2918-33T>C)
n.2374-33T>C
c.151-33T>C
c.2594-33T>C (n.2594-33T>C)
c.491-33T>C (n.491-33T>C)
c.2933-33T>C (n.2933-33T>C)
c.1253-33T>C (n.1253-33T>C)
 gnomAD v4
Xg.108624204C>ACA2579676600COL4A5c.2918-32C>A (n.2918-32C>A)
n.2374-32C>A
c.151-32C>A
c.2594-32C>A (n.2594-32C>A)
c.491-32C>A (n.491-32C>A)
c.2933-32C>A (n.2933-32C>A)
c.1253-32C>A (n.1253-32C>A)
 gnomAD v4
Xg.108624204C=CA2450697317COL4A5c.2918-32C= (n.2918-32C=)
n.2374-32C=
c.151-32C=
c.2594-32C= (n.2594-32C=)
c.491-32C= (n.491-32C=)
c.2933-32C= (n.2933-32C=)
c.1253-32C= (n.1253-32C=)
Xg.108624204C>TCA10489002COL4A5c.2918-32C>T (n.2918-32C>T)
n.2374-32C>T
c.151-32C>T
c.2594-32C>T (n.2594-32C>T)
c.491-32C>T (n.491-32C>T)
c.2933-32C>T (n.2933-32C>T)
c.1253-32C>T (n.1253-32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108624205C>ACA2694440373COL4A5c.2918-31C>A (n.2918-31C>A)
n.2374-31C>A
c.151-31C>A
c.2594-31C>A (n.2594-31C>A)
c.491-31C>A (n.491-31C>A)
c.2933-31C>A (n.2933-31C>A)
c.1253-31C>A (n.1253-31C>A)
 gnomAD v4
Xg.108624205C>TCA2694440374COL4A5c.2918-31C>T (n.2918-31C>T)
n.2374-31C>T
c.151-31C>T
c.2594-31C>T (n.2594-31C>T)
c.491-31C>T (n.491-31C>T)
c.2933-31C>T (n.2933-31C>T)
c.1253-31C>T (n.1253-31C>T)
 gnomAD v4
Xg.108624209C>ACA10489003COL4A5c.2918-27C>A (n.2918-27C>A)
n.2374-27C>A
c.151-27C>A
c.2594-27C>A (n.2594-27C>A)
c.491-27C>A (n.491-27C>A)
c.2933-27C>A (n.2933-27C>A)
c.1253-27C>A (n.1253-27C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108624209C=CA2450697318COL4A5c.2918-27C= (n.2918-27C=)
n.2374-27C=
c.151-27C=
c.2594-27C= (n.2594-27C=)
c.491-27C= (n.491-27C=)
c.2933-27C= (n.2933-27C=)
c.1253-27C= (n.1253-27C=)
Xg.108624209C>GCA2694440375COL4A5c.2918-27C>G (n.2918-27C>G)
n.2374-27C>G
c.151-27C>G
c.2594-27C>G (n.2594-27C>G)
c.491-27C>G (n.491-27C>G)
c.2933-27C>G (n.2933-27C>G)
c.1253-27C>G (n.1253-27C>G)
 gnomAD v4
Xg.108624210T>GCA2450697320COL4A5c.2918-26T>G (n.2918-26T>G)
n.2374-26T>G
c.151-26T>G
c.2594-26T>G (n.2594-26T>G)
c.491-26T>G (n.491-26T>G)
c.2933-26T>G (n.2933-26T>G)
c.1253-26T>G (n.1253-26T>G)
 dbSNP
Xg.108624210T=CA2450697319COL4A5c.2918-26T= (n.2918-26T=)
n.2374-26T=
c.151-26T=
c.2594-26T= (n.2594-26T=)
c.491-26T= (n.491-26T=)
c.2933-26T= (n.2933-26T=)
c.1253-26T= (n.1253-26T=)
Xg.108624212G>TCA2579676601COL4A5c.2918-24G>T (n.2918-24G>T)
n.2374-24G>T
c.151-24G>T
c.2594-24G>T (n.2594-24G>T)
c.491-24G>T (n.491-24G>T)
c.2933-24G>T (n.2933-24G>T)
c.1253-24G>T (n.1253-24G>T)
 gnomAD v4
Xg.108624213C>ACA2694440376COL4A5c.2918-23C>A (n.2918-23C>A)
n.2374-23C>A
c.151-23C>A
c.2594-23C>A (n.2594-23C>A)
c.491-23C>A (n.491-23C>A)
c.2933-23C>A (n.2933-23C>A)
c.1253-23C>A (n.1253-23C>A)
 gnomAD v4
Xg.108624213C>GCA2694440377COL4A5c.2918-23C>G (n.2918-23C>G)
n.2374-23C>G
c.151-23C>G
c.2594-23C>G (n.2594-23C>G)
c.491-23C>G (n.491-23C>G)
c.2933-23C>G (n.2933-23C>G)
c.1253-23C>G (n.1253-23C>G)
 gnomAD v4
Xg.108624214C>ACA2579676602COL4A5c.2918-22C>A (n.2918-22C>A)
n.2374-22C>A
c.151-22C>A
c.2594-22C>A (n.2594-22C>A)
c.491-22C>A (n.491-22C>A)
c.2933-22C>A (n.2933-22C>A)
c.1253-22C>A (n.1253-22C>A)
 gnomAD v4
Xg.108624215T>CCA2579676603COL4A5c.2918-21T>C (n.2918-21T>C)
n.2374-21T>C
c.151-21T>C
c.2594-21T>C (n.2594-21T>C)
c.491-21T>C (n.491-21T>C)
c.2933-21T>C (n.2933-21T>C)
c.1253-21T>C (n.1253-21T>C)
 gnomAD v4
Xg.108624216C>ACA2694440378COL4A5c.2918-20C>A (n.2918-20C>A)
n.2374-20C>A
c.151-20C>A
c.2594-20C>A (n.2594-20C>A)
c.491-20C>A (n.491-20C>A)
c.2933-20C>A (n.2933-20C>A)
c.1253-20C>A (n.1253-20C>A)
 gnomAD v4
Xg.108624219C>ACA2694440379COL4A5c.2918-17C>A (n.2918-17C>A)
n.2374-17C>A
c.151-17C>A
c.2594-17C>A (n.2594-17C>A)
c.491-17C>A (n.491-17C>A)
c.2933-17C>A (n.2933-17C>A)
c.1253-17C>A (n.1253-17C>A)
 gnomAD v4
Xg.108624219C>GCA2697544688COL4A5c.2918-17C>G (n.2918-17C>G)
n.2374-17C>G
c.151-17C>G
c.2594-17C>G (n.2594-17C>G)
c.491-17C>G (n.491-17C>G)
c.2933-17C>G (n.2933-17C>G)
c.1253-17C>G (n.1253-17C>G)
 ClinVar
Xg.108624220T>ACA2694440380COL4A5c.2918-16T>A (n.2918-16T>A)
n.2374-16T>A
c.151-16T>A
c.2594-16T>A (n.2594-16T>A)
c.491-16T>A (n.491-16T>A)
c.2933-16T>A (n.2933-16T>A)
c.1253-16T>A (n.1253-16T>A)
 gnomAD v4
Xg.108624222C>ACA2694440381COL4A5c.2918-14C>A (n.2918-14C>A)
n.2374-14C>A
c.151-14C>A
c.2594-14C>A (n.2594-14C>A)
c.491-14C>A (n.491-14C>A)
c.2933-14C>A (n.2933-14C>A)
c.1253-14C>A (n.1253-14C>A)
 gnomAD v4
Xg.108624223T>CCA2694440382COL4A5c.2918-13T>C (n.2918-13T>C)
n.2374-13T>C
c.151-13T>C
c.2594-13T>C (n.2594-13T>C)
c.491-13T>C (n.491-13T>C)
c.2933-13T>C (n.2933-13T>C)
c.1253-13T>C (n.1253-13T>C)
 gnomAD v4
Xg.108624224C>ACA2694440383COL4A5c.2918-12C>A (n.2918-12C>A)
n.2374-12C>A
c.151-12C>A
c.2594-12C>A (n.2594-12C>A)
c.491-12C>A (n.491-12C>A)
c.2933-12C>A (n.2933-12C>A)
c.1253-12C>A (n.1253-12C>A)
 gnomAD v4
Xg.108624230T>CCA2694440384COL4A5c.2918-6T>C (n.2918-6T>C)
n.2374-6T>C
c.151-6T>C
c.2594-6T>C (n.2594-6T>C)
c.491-6T>C (n.491-6T>C)
c.2933-6T>C (n.2933-6T>C)
c.1253-6T>C (n.1253-6T>C)
 gnomAD v4
Xg.108624231G>ACA10489004COL4A5c.2918-5G>A (n.2918-5G>A)
n.2374-5G>A
c.151-5G>A
c.2594-5G>A (n.2594-5G>A)
c.491-5G>A (n.491-5G>A)
c.2933-5G>A (n.2933-5G>A)
c.1253-5G>A (n.1253-5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108624231G=CA2450697321COL4A5c.2918-5G= (n.2918-5G=)
n.2374-5G=
c.151-5G=
c.2594-5G= (n.2594-5G=)
c.491-5G= (n.491-5G=)
c.2933-5G= (n.2933-5G=)
c.1253-5G= (n.1253-5G=)
Xg.108624232G>ACA334051465COL4A5c.2918-4G>A (n.2918-4G>A)
n.2374-4G>A
c.151-4G>A
c.2594-4G>A (n.2594-4G>A)
c.491-4G>A (n.491-4G>A)
c.2933-4G>A (n.2933-4G>A)
c.1253-4G>A (n.1253-4G>A)
 dbSNP gnomAD v4
Xg.108624232G=CA2450697322COL4A5c.2918-4G= (n.2918-4G=)
n.2374-4G=
c.151-4G=
c.2594-4G= (n.2594-4G=)
c.491-4G= (n.491-4G=)
c.2933-4G= (n.2933-4G=)
c.1253-4G= (n.1253-4G=)
Xg.108624234A>CCA413853152COL4A5c.2918-2A>C (n.2918-2A>C)
n.2374-2A>C
c.151-2A>C
c.2594-2A>C (n.2594-2A>C)
c.491-2A>C (n.491-2A>C)
c.2933-2A>C (n.2933-2A>C)
c.1253-2A>C (n.1253-2A>C)
Xg.108624234A>GCA413853153COL4A5c.2918-2A>G (n.2918-2A>G)
n.2374-2A>G
c.151-2A>G
c.2594-2A>G (n.2594-2A>G)
c.491-2A>G (n.491-2A>G)
c.2933-2A>G (n.2933-2A>G)
c.1253-2A>G (n.1253-2A>G)
Xg.108624234A>TCA413853154COL4A5c.2918-2A>T (n.2918-2A>T)
n.2374-2A>T
c.151-2A>T
c.2594-2A>T (n.2594-2A>T)
c.491-2A>T (n.491-2A>T)
c.2933-2A>T (n.2933-2A>T)
c.1253-2A>T (n.1253-2A>T)
Xg.108624235G>ACA413853156COL4A5c.2918-1G>A (n.2918-1G>A)
n.2374-1G>A
c.151-1G>A
c.2594-1G>A (n.2594-1G>A)
c.491-1G>A (n.491-1G>A)
c.2933-1G>A (n.2933-1G>A)
c.1253-1G>A (n.1253-1G>A)
 ClinVar dbSNP
Xg.108624235G>CCA413853158COL4A5c.2918-1G>C (n.2918-1G>C)
n.2374-1G>C
c.151-1G>C
c.2594-1G>C (n.2594-1G>C)
c.491-1G>C (n.491-1G>C)
c.2933-1G>C (n.2933-1G>C)
c.1253-1G>C (n.1253-1G>C)
Xg.108624235G=CA2450697323COL4A5c.2918-1G= (n.2918-1G=)
n.2374-1G=
c.151-1G=
c.2594-1G= (n.2594-1G=)
c.491-1G= (n.491-1G=)
c.2933-1G= (n.2933-1G=)
c.1253-1G= (n.1253-1G=)
Xg.108624235G>TCA258781COL4A5c.2918-1G>T (n.2918-1G>T)
n.2374-1G>T
c.151-1G>T
c.2594-1G>T (n.2594-1G>T)
c.491-1G>T (n.491-1G>T)
c.2933-1G>T (n.2933-1G>T)
c.1253-1G>T (n.1253-1G>T)
 dbSNP
Xg.108624236G>ACA413853167COL4A5c.2918G>A (p.Gly973Asp)
n.2374G>A
c.151G>A
c.2594G>A (p.Gly865Asp)
c.491G>A (p.Gly164Asp)
c.2933G>A (p.Gly978Asp)
c.1253G>A (p.Gly418Asp)
Xg.108624236G>CCA413853173COL4A5c.2918G>C (p.Gly973Ala)
n.2374G>C
c.151G>C
c.2594G>C (p.Gly865Ala)
c.491G>C (p.Gly164Ala)
c.2933G>C (p.Gly978Ala)
c.1253G>C (p.Gly418Ala)
Xg.108624236G=CA2450697324COL4A5c.2918G= (p.Gly973=)
n.2374G=
c.151G=
c.2594G= (p.Gly865=)
c.491G= (p.Gly164=)
c.2933G= (p.Gly978=)
c.1253G= (p.Gly418=)
Xg.108624236G>TCA413853171COL4A5c.2918G>T (p.Gly973Val)
n.2374G>T
c.151G>T
c.2594G>T (p.Gly865Val)
c.491G>T (p.Gly164Val)
c.2933G>T (p.Gly978Val)
c.1253G>T (p.Gly418Val)
Xg.108624237T>ACA517924928COL4A5c.2919T>A (p.Gly973=)
n.2375T>A
c.152T>A
c.2595T>A (p.Gly865=)
c.492T>A (p.Gly164=)
c.2934T>A (p.Gly978=)
c.1254T>A (p.Gly418=)
Xg.108624237T>CCA517924929COL4A5c.2919T>C (p.Gly973=)
n.2375T>C
c.152T>C
c.2595T>C (p.Gly865=)
c.492T>C (p.Gly164=)
c.2934T>C (p.Gly978=)
c.1254T>C (p.Gly418=)
 dbSNP
Xg.108624237T>GCA517924930COL4A5c.2919T>G (p.Gly973=)
n.2375T>G
c.152T>G
c.2595T>G (p.Gly865=)
c.492T>G (p.Gly164=)
c.2934T>G (p.Gly978=)
c.1254T>G (p.Gly418=)
Xg.108624237T=CA2450697325COL4A5c.2919T= (p.Gly973=)
n.2375T=
c.152T=
c.2595T= (p.Gly865=)
c.492T= (p.Gly164=)
c.2934T= (p.Gly978=)
c.1254T= (p.Gly418=)
Xg.108624238A>CCA413853174COL4A5c.2920A>C (p.Ile974Leu)
n.2376A>C
c.153A>C
c.2596A>C (p.Ile866Leu)
c.493A>C (p.Ile165Leu)
c.2935A>C (p.Ile979Leu)
c.1255A>C (p.Ile419Leu)
Xg.108624238A>GCA413853176COL4A5c.2920A>G (p.Ile974Val)
n.2376A>G
c.153A>G
c.2596A>G (p.Ile866Val)
c.493A>G (p.Ile165Val)
c.2935A>G (p.Ile979Val)
c.1255A>G (p.Ile419Val)
Xg.108624238A>TCA413853178COL4A5c.2920A>T (p.Ile974Leu)
n.2376A>T
c.153A>T
c.2596A>T (p.Ile866Leu)
c.493A>T (p.Ile165Leu)
c.2935A>T (p.Ile979Leu)
c.1255A>T (p.Ile419Leu)
Xg.108624239T>ACA413853181COL4A5c.2921T>A (p.Ile974Lys)
n.2377T>A
c.154T>A
c.2597T>A (p.Ile866Lys)
c.494T>A (p.Ile165Lys)
c.2936T>A (p.Ile979Lys)
c.1256T>A (p.Ile419Lys)
Xg.108624239T>CCA413853183COL4A5c.2921T>C (p.Ile974Thr)
n.2377T>C
c.154T>C
c.2597T>C (p.Ile866Thr)
c.494T>C (p.Ile165Thr)
c.2936T>C (p.Ile979Thr)
c.1256T>C (p.Ile419Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.108624239T>GCA413853185COL4A5c.2921T>G (p.Ile974Arg)
n.2377T>G
c.154T>G
c.2597T>G (p.Ile866Arg)
c.494T>G (p.Ile165Arg)
c.2936T>G (p.Ile979Arg)
c.1256T>G (p.Ile419Arg)
Xg.108624239T=CA2450697326COL4A5c.2921T= (p.Ile974=)
n.2377T=
c.154T=
c.2597T= (p.Ile866=)
c.494T= (p.Ile165=)
c.2936T= (p.Ile979=)
c.1256T= (p.Ile419=)
Xg.108624240A=CA2450697327COL4A5c.2922A= (p.Ile974=)
n.2378A=
c.155A=
c.2598A= (p.Ile866=)
c.495A= (p.Ile165=)
c.2937A= (p.Ile979=)
c.1257A= (p.Ile419=)
Xg.108624240A>CCA517924935COL4A5c.2922A>C (p.Ile974=)
n.2378A>C
c.155A>C
c.2598A>C (p.Ile866=)
c.495A>C (p.Ile165=)
c.2937A>C (p.Ile979=)
c.1257A>C (p.Ile419=)
Xg.108624240A>GCA334051469COL4A5c.2922A>G (p.Ile974Met)
n.2378A>G
c.155A>G
c.2598A>G (p.Ile866Met)
c.495A>G (p.Ile165Met)
c.2937A>G (p.Ile979Met)
c.1257A>G (p.Ile419Met)
 dbSNP gnomAD v4
Xg.108624240A>TCA517924936COL4A5c.2922A>T (p.Ile974=)
n.2378A>T
c.155A>T
c.2598A>T (p.Ile866=)
c.495A>T (p.Ile165=)
c.2937A>T (p.Ile979=)
c.1257A>T (p.Ile419=)
Xg.108624241C>ACA413853187COL4A5c.2923C>A (p.Pro975Thr)
n.2379C>A
c.156C>A
c.2599C>A (p.Pro867Thr)
c.496C>A (p.Pro166Thr)
c.2938C>A (p.Pro980Thr)
c.1258C>A (p.Pro420Thr)
 gnomAD v4
Xg.108624241C>GCA413853189COL4A5c.2923C>G (p.Pro975Ala)
n.2379C>G
c.156C>G
c.2599C>G (p.Pro867Ala)
c.496C>G (p.Pro166Ala)
c.2938C>G (p.Pro980Ala)
c.1258C>G (p.Pro420Ala)
Xg.108624241C>TCA413853191COL4A5c.2923C>T (p.Pro975Ser)
n.2379C>T
c.156C>T
c.2599C>T (p.Pro867Ser)
c.496C>T (p.Pro166Ser)
c.2938C>T (p.Pro980Ser)
c.1258C>T (p.Pro420Ser)
 gnomAD v4
Xg.108624242dupCA2695235747COL4A5c.2924dup (p.Gly976TrpfsTer?)
n.2380dup
c.157dup
c.2600dup (p.Gly868TrpfsTer?)
c.497dup (p.Gly167TrpfsTer?)
c.2939dup (p.Gly981TrpfsTer?)
c.1259dup (p.Gly421TrpfsTer?)
Xg.108624242C>ACA413853194COL4A5c.2924C>A (p.Pro975His)
n.2380C>A
c.157C>A
c.2600C>A (p.Pro867His)
c.497C>A (p.Pro166His)
c.2939C>A (p.Pro980His)
c.1259C>A (p.Pro420His)
Xg.108624242C>GCA413853193COL4A5c.2924C>G (p.Pro975Arg)
n.2380C>G
c.157C>G
c.2600C>G (p.Pro867Arg)
c.497C>G (p.Pro166Arg)
c.2939C>G (p.Pro980Arg)
c.1259C>G (p.Pro420Arg)
Xg.108624242C>TCA413853192COL4A5c.2924C>T (p.Pro975Leu)
n.2380C>T
c.157C>T
c.2600C>T (p.Pro867Leu)
c.497C>T (p.Pro166Leu)
c.2939C>T (p.Pro980Leu)
c.1259C>T (p.Pro420Leu)
 gnomAD v4
Xg.108624243T>ACA517924938COL4A5c.2925T>A (p.Pro975=)
n.2381T>A
c.158T>A
c.2601T>A (p.Pro867=)
c.498T>A (p.Pro166=)
c.2940T>A (p.Pro980=)
c.1260T>A (p.Pro420=)
Xg.108624243T>CCA517924939COL4A5c.2925T>C (p.Pro975=)
n.2381T>C
c.158T>C
c.2601T>C (p.Pro867=)
c.498T>C (p.Pro166=)
c.2940T>C (p.Pro980=)
c.1260T>C (p.Pro420=)
Xg.108624243T>GCA517924940COL4A5c.2925T>G (p.Pro975=)
n.2381T>G
c.158T>G
c.2601T>G (p.Pro867=)
c.498T>G (p.Pro166=)
c.2940T>G (p.Pro980=)
c.1260T>G (p.Pro420=)
Xg.108624244G>ACA413853196COL4A5c.2926G>A (p.Gly976Arg)
n.2382G>A
c.159G>A
c.2602G>A (p.Gly868Arg)
c.499G>A (p.Gly167Arg)
c.2941G>A (p.Gly981Arg)
c.1261G>A (p.Gly421Arg)
Xg.108624244G>CCA413853198COL4A5c.2926G>C (p.Gly976Arg)
n.2382G>C
c.159G>C
c.2602G>C (p.Gly868Arg)
c.499G>C (p.Gly167Arg)
c.2941G>C (p.Gly981Arg)
c.1261G>C (p.Gly421Arg)
Xg.108624244G=CA2450697329COL4A5c.2926G= (p.Gly976=)
n.2382G=
c.159G=
c.2602G= (p.Gly868=)
c.499G= (p.Gly167=)
c.2941G= (p.Gly981=)
c.1261G= (p.Gly421=)
Xg.108624244G>TCA413853197COL4A5c.2926G>T (p.Gly976Ter)
n.2382G>T
c.159G>T
c.2602G>T (p.Gly868Ter)
c.499G>T (p.Gly167Ter)
c.2941G>T (p.Gly981Ter)
c.1261G>T (p.Gly421Ter)
 ClinVar dbSNP
Xg.108624245delCA2544389261COL4A5c.2927del (p.Gly976GlufsTer20)
n.2383del
c.160del
c.2603del (p.Gly868GlufsTer20)
c.500del (p.Gly167GlufsTer20)
c.2942del (p.Gly981GlufsTer20)
c.1262del (p.Gly421GlufsTer20)
 ClinVar dbSNP gnomAD v4
Xg.108624244_108624246delinsGGACA2450697328COL4A5c.2926_2928delinsGGA (p.Gly976=)
n.2382_2384delinsGGA
c.159_161delinsGGA
c.2602_2604delinsGGA (p.Gly868=)
c.499_501delinsGGA (p.Gly167=)
c.2941_2943delinsGGA (p.Gly981=)
c.1261_1263delinsGGA (p.Gly421=)
Xg.108624245G>ACA413853199COL4A5c.2927G>A (p.Gly976Glu)
n.2383G>A
c.160G>A
c.2603G>A (p.Gly868Glu)
c.500G>A (p.Gly167Glu)
c.2942G>A (p.Gly981Glu)
c.1262G>A (p.Gly421Glu)
 ClinVar dbSNP
Xg.108624245G>CCA413853201COL4A5c.2927G>C (p.Gly976Ala)
n.2383G>C
c.160G>C
c.2603G>C (p.Gly868Ala)
c.500G>C (p.Gly167Ala)
c.2942G>C (p.Gly981Ala)
c.1262G>C (p.Gly421Ala)
Xg.108624245G=CA2450697330COL4A5c.2927G= (p.Gly976=)
n.2383G=
c.160G=
c.2603G= (p.Gly868=)
c.500G= (p.Gly167=)
c.2942G= (p.Gly981=)
c.1262G= (p.Gly421=)
Xg.108624245G>TCA413853200COL4A5c.2927G>T (p.Gly976Val)
n.2383G>T
c.160G>T
c.2603G>T (p.Gly868Val)
c.500G>T (p.Gly167Val)
c.2942G>T (p.Gly981Val)
c.1262G>T (p.Gly421Val)
 ClinVar
Xg.108624246_108624247delCA334051474COL4A5c.2928_2929del (p.Val977PhefsTer?)
n.2384_2385del
c.161_162del
c.2604_2605del (p.Val869PhefsTer?)
c.501_502del (p.Val168PhefsTer?)
c.2943_2944del (p.Val982PhefsTer?)
c.1263_1264del (p.Val422PhefsTer?)
 dbSNP
Xg.108624246A>CCA517924949COL4A5c.2928A>C (p.Gly976=)
n.2384A>C
c.161A>C
c.2604A>C (p.Gly868=)
c.501A>C (p.Gly167=)
c.2943A>C (p.Gly981=)
c.1263A>C (p.Gly421=)
Xg.108624246A>GCA517924948COL4A5c.2928A>G (p.Gly976=)
n.2384A>G
c.161A>G
c.2604A>G (p.Gly868=)
c.501A>G (p.Gly167=)
c.2943A>G (p.Gly981=)
c.1263A>G (p.Gly421=)
 COSMIC COSMIC
Xg.108624246A>TCA517924947COL4A5c.2928A>T (p.Gly976=)
n.2384A>T
c.161A>T
c.2604A>T (p.Gly868=)
c.501A>T (p.Gly167=)
c.2943A>T (p.Gly981=)
c.1263A>T (p.Gly421=)
Xg.108624247G>ACA413853202COL4A5c.2929G>A (p.Val977Ile)
n.2385G>A
c.162G>A
c.2605G>A (p.Val869Ile)
c.502G>A (p.Val168Ile)
c.2944G>A (p.Val982Ile)
c.1264G>A (p.Val422Ile)
 dbSNP gnomAD v4
Xg.108624247G>CCA413853203COL4A5c.2929G>C (p.Val977Leu)
n.2385G>C
c.162G>C
c.2605G>C (p.Val869Leu)
c.502G>C (p.Val168Leu)
c.2944G>C (p.Val982Leu)
c.1264G>C (p.Val422Leu)
Xg.108624247G=CA2450697331COL4A5c.2929G= (p.Val977=)
n.2385G=
c.162G=
c.2605G= (p.Val869=)
c.502G= (p.Val168=)
c.2944G= (p.Val982=)
c.1264G= (p.Val422=)
Xg.108624247G>TCA413853204COL4A5c.2929G>T (p.Val977Phe)
n.2385G>T
c.162G>T
c.2605G>T (p.Val869Phe)
c.502G>T (p.Val168Phe)
c.2944G>T (p.Val982Phe)
c.1264G>T (p.Val422Phe)
Xg.108624248T>ACA413853205COL4A5c.2930T>A (p.Val977Asp)
n.2386T>A
c.163T>A
c.2606T>A (p.Val869Asp)
c.503T>A (p.Val168Asp)
c.2945T>A (p.Val982Asp)
c.1265T>A (p.Val422Asp)
 gnomAD v4
Xg.108624248T>CCA413853206COL4A5c.2930T>C (p.Val977Ala)
n.2386T>C
c.163T>C
c.2606T>C (p.Val869Ala)
c.503T>C (p.Val168Ala)
c.2945T>C (p.Val982Ala)
c.1265T>C (p.Val422Ala)
Xg.108624248T>GCA413853207COL4A5c.2930T>G (p.Val977Gly)
n.2386T>G
c.163T>G
c.2606T>G (p.Val869Gly)
c.503T>G (p.Val168Gly)
c.2945T>G (p.Val982Gly)
c.1265T>G (p.Val422Gly)
Xg.108624249T>ACA517924953COL4A5c.2931T>A (p.Val977=)
n.2387T>A
c.164T>A
c.2607T>A (p.Val869=)
c.504T>A (p.Val168=)
c.2946T>A (p.Val982=)
c.1266T>A (p.Val422=)
Xg.108624249T>CCA517924954COL4A5c.2931T>C (p.Val977=)
n.2387T>C
c.164T>C
c.2607T>C (p.Val869=)
c.504T>C (p.Val168=)
c.2946T>C (p.Val982=)
c.1266T>C (p.Val422=)
Xg.108624249T>GCA517924955COL4A5c.2931T>G (p.Val977=)
n.2387T>G
c.164T>G
c.2607T>G (p.Val869=)
c.504T>G (p.Val168=)
c.2946T>G (p.Val982=)
c.1266T>G (p.Val422=)
Xg.108624250T>ACA413853208COL4A5c.2932T>A (p.Ser978Thr)
n.2388T>A
c.165T>A
c.2608T>A (p.Ser870Thr)
c.505T>A (p.Ser169Thr)
c.2947T>A (p.Ser983Thr)
c.1267T>A (p.Ser423Thr)
Xg.108624250T>CCA413853209COL4A5c.2932T>C (p.Ser978Pro)
n.2388T>C
c.165T>C
c.2608T>C (p.Ser870Pro)
c.505T>C (p.Ser169Pro)
c.2947T>C (p.Ser983Pro)
c.1267T>C (p.Ser423Pro)
Xg.108624250T>GCA413853210COL4A5c.2932T>G (p.Ser978Ala)
n.2388T>G
c.165T>G
c.2608T>G (p.Ser870Ala)
c.505T>G (p.Ser169Ala)
c.2947T>G (p.Ser983Ala)
c.1267T>G (p.Ser423Ala)
 gnomAD v4
Xg.108624251C>ACA413853211COL4A5c.2933C>A (p.Ser978Ter)
n.2389C>A
c.166C>A
c.2609C>A (p.Ser870Ter)
c.506C>A (p.Ser169Ter)
c.2948C>A (p.Ser983Ter)
c.1268C>A (p.Ser423Ter)
 gnomAD v4
Xg.108624251C>GCA413853212COL4A5c.2933C>G (p.Ser978Ter)
n.2389C>G
c.166C>G
c.2609C>G (p.Ser870Ter)
c.506C>G (p.Ser169Ter)
c.2948C>G (p.Ser983Ter)
c.1268C>G (p.Ser423Ter)
Xg.108624251C>TCA413853213COL4A5c.2933C>T (p.Ser978Leu)
n.2389C>T
c.166C>T
c.2609C>T (p.Ser870Leu)
c.506C>T (p.Ser169Leu)
c.2948C>T (p.Ser983Leu)
c.1268C>T (p.Ser423Leu)
 dbSNP
Xg.108624252A>CCA517924959COL4A5c.2934A>C (p.Ser978=)
n.2390A>C
c.167A>C
c.2610A>C (p.Ser870=)
c.507A>C (p.Ser169=)
c.2949A>C (p.Ser983=)
c.1269A>C (p.Ser423=)
Xg.108624252A>GCA517924961COL4A5c.2934A>G (p.Ser978=)
n.2390A>G
c.167A>G
c.2610A>G (p.Ser870=)
c.507A>G (p.Ser169=)
c.2949A>G (p.Ser983=)
c.1269A>G (p.Ser423=)
 gnomAD v4
Xg.108624252A>TCA517924960COL4A5c.2934A>T (p.Ser978=)
n.2390A>T
c.167A>T
c.2610A>T (p.Ser870=)
c.507A>T (p.Ser169=)
c.2949A>T (p.Ser983=)
c.1269A>T (p.Ser423=)
Xg.108624253G>ACA413853216COL4A5c.2935G>A (p.Gly979Arg)
n.2391G>A
c.168G>A
c.2611G>A (p.Gly871Arg)
c.508G>A (p.Gly170Arg)
c.2950G>A (p.Gly984Arg)
c.1270G>A (p.Gly424Arg)
Xg.108624253G>CCA413853214COL4A5c.2935G>C (p.Gly979Arg)
n.2391G>C
c.168G>C
c.2611G>C (p.Gly871Arg)
c.508G>C (p.Gly170Arg)
c.2950G>C (p.Gly984Arg)
c.1270G>C (p.Gly424Arg)
Xg.108624253G>TCA413853215COL4A5c.2935G>T (p.Gly979Trp)
n.2391G>T
c.168G>T
c.2611G>T (p.Gly871Trp)
c.508G>T (p.Gly170Trp)
c.2950G>T (p.Gly984Trp)
c.1270G>T (p.Gly424Trp)
 gnomAD v4
Xg.108624254G>ACA413853217COL4A5c.2936G>A (p.Gly979Glu)
n.2392G>A
c.169G>A
c.2612G>A (p.Gly871Glu)
c.509G>A (p.Gly170Glu)
c.2951G>A (p.Gly984Glu)
c.1271G>A (p.Gly424Glu)
 ClinVar
Xg.108624254G>CCA413853218COL4A5c.2936G>C (p.Gly979Ala)
n.2392G>C
c.169G>C
c.2612G>C (p.Gly871Ala)
c.509G>C (p.Gly170Ala)
c.2951G>C (p.Gly984Ala)
c.1271G>C (p.Gly424Ala)
Xg.108624254G>TCA413853219COL4A5c.2936G>T (p.Gly979Val)
n.2392G>T
c.169G>T
c.2612G>T (p.Gly871Val)
c.509G>T (p.Gly170Val)
c.2951G>T (p.Gly984Val)
c.1271G>T (p.Gly424Val)
Xg.108624255G>ACA517924964COL4A5c.2937G>A (p.Gly979=)
n.2393G>A
c.170G>A
c.2613G>A (p.Gly871=)
c.510G>A (p.Gly170=)
c.2952G>A (p.Gly984=)
c.1272G>A (p.Gly424=)
 ClinVar
Xg.108624255G>CCA517924966COL4A5c.2937G>C (p.Gly979=)
n.2393G>C
c.170G>C
c.2613G>C (p.Gly871=)
c.510G>C (p.Gly170=)
c.2952G>C (p.Gly984=)
c.1272G>C (p.Gly424=)
Xg.108624255G>TCA517924967COL4A5c.2937G>T (p.Gly979=)
n.2393G>T
c.170G>T
c.2613G>T (p.Gly871=)
c.510G>T (p.Gly170=)
c.2952G>T (p.Gly984=)
c.1272G>T (p.Gly424=)
Xg.108624256C>ACA413853220COL4A5c.2938C>A (p.Pro980Thr)
n.2394C>A
c.171C>A
c.2614C>A (p.Pro872Thr)
c.511C>A (p.Pro171Thr)
c.2953C>A (p.Pro985Thr)
c.1273C>A (p.Pro425Thr)
 COSMIC COSMIC
Xg.108624256C>GCA413853221COL4A5c.2938C>G (p.Pro980Ala)
n.2394C>G
c.171C>G
c.2614C>G (p.Pro872Ala)
c.511C>G (p.Pro171Ala)
c.2953C>G (p.Pro985Ala)
c.1273C>G (p.Pro425Ala)
Xg.108624256C>TCA413853222COL4A5c.2938C>T (p.Pro980Ser)
n.2394C>T
c.171C>T
c.2614C>T (p.Pro872Ser)
c.511C>T (p.Pro171Ser)
c.2953C>T (p.Pro985Ser)
c.1273C>T (p.Pro425Ser)
Xg.108624257C>ACA413853224COL4A5c.2939C>A (p.Pro980Gln)
n.2395C>A
c.172C>A
c.2615C>A (p.Pro872Gln)
c.512C>A (p.Pro171Gln)
c.2954C>A (p.Pro985Gln)
c.1274C>A (p.Pro425Gln)
Xg.108624257C>GCA413853226COL4A5c.2939C>G (p.Pro980Arg)
n.2395C>G
c.172C>G
c.2615C>G (p.Pro872Arg)
c.512C>G (p.Pro171Arg)
c.2954C>G (p.Pro985Arg)
c.1274C>G (p.Pro425Arg)
Xg.108624257C>TCA413853228COL4A5c.2939C>T (p.Pro980Leu)
n.2395C>T
c.172C>T
c.2615C>T (p.Pro872Leu)
c.512C>T (p.Pro171Leu)
c.2954C>T (p.Pro985Leu)
c.1274C>T (p.Pro425Leu)
Xg.108624257_108624258delinsCACA2450697332COL4A5c.2939_2940delinsCA (p.Pro980=)
n.2395_2396delinsCA
c.172_173delinsCA
c.2615_2616delinsCA (p.Pro872=)
c.512_513delinsCA (p.Pro171=)
c.2954_2955delinsCA (p.Pro985=)
c.1274_1275delinsCA (p.Pro425=)
Xg.108624258A>CCA517924969COL4A5c.2940A>C (p.Pro980=)
n.2396A>C
c.173A>C
c.2616A>C (p.Pro872=)
c.513A>C (p.Pro171=)
c.2955A>C (p.Pro985=)
c.1275A>C (p.Pro425=)
Xg.108624258A>GCA517924970COL4A5c.2940A>G (p.Pro980=)
n.2396A>G
c.173A>G
c.2616A>G (p.Pro872=)
c.513A>G (p.Pro171=)
c.2955A>G (p.Pro985=)
c.1275A>G (p.Pro425=)
Xg.108624258A>TCA517924971COL4A5c.2940A>T (p.Pro980=)
n.2396A>T
c.173A>T
c.2616A>T (p.Pro872=)
c.513A>T (p.Pro171=)
c.2955A>T (p.Pro985=)
c.1275A>T (p.Pro425=)
Xg.108624261delCA258782COL4A5c.2943del (p.Gly982ValfsTer14)
n.2399del
c.176del
c.2619del (p.Gly874ValfsTer14)
c.516del (p.Gly173ValfsTer14)
c.2958del (p.Gly987ValfsTer14)
c.1278del (p.Gly427ValfsTer14)
 dbSNP gnomAD v4
Xg.108624259A>CCA413853232COL4A5c.2941A>C (p.Lys981Gln)
n.2397A>C
c.174A>C
c.2617A>C (p.Lys873Gln)
c.514A>C (p.Lys172Gln)
c.2956A>C (p.Lys986Gln)
c.1276A>C (p.Lys426Gln)
Xg.108624259A>GCA413853231COL4A5c.2941A>G (p.Lys981Glu)
n.2397A>G
c.174A>G
c.2617A>G (p.Lys873Glu)
c.514A>G (p.Lys172Glu)
c.2956A>G (p.Lys986Glu)
c.1276A>G (p.Lys426Glu)
Xg.108624259A>TCA413853234COL4A5c.2941A>T (p.Lys981Ter)
n.2397A>T
c.174A>T
c.2617A>T (p.Lys873Ter)
c.514A>T (p.Lys172Ter)
c.2956A>T (p.Lys986Ter)
c.1276A>T (p.Lys426Ter)
Xg.108624260A>CCA413853236COL4A5c.2942A>C (p.Lys981Thr)
n.2398A>C
c.175A>C
c.2618A>C (p.Lys873Thr)
c.515A>C (p.Lys172Thr)
c.2957A>C (p.Lys986Thr)
c.1277A>C (p.Lys426Thr)
Xg.108624260A>GCA413853237COL4A5c.2942A>G (p.Lys981Arg)
n.2398A>G
c.175A>G
c.2618A>G (p.Lys873Arg)
c.515A>G (p.Lys172Arg)
c.2957A>G (p.Lys986Arg)
c.1277A>G (p.Lys426Arg)
Xg.108624260A>TCA413853239COL4A5c.2942A>T (p.Lys981Ile)
n.2398A>T
c.175A>T
c.2618A>T (p.Lys873Ile)
c.515A>T (p.Lys172Ile)
c.2957A>T (p.Lys986Ile)
c.1277A>T (p.Lys426Ile)
Xg.108624261A>CCA413853241COL4A5c.2943A>C (p.Lys981Asn)
n.2399A>C
c.176A>C
c.2619A>C (p.Lys873Asn)
c.516A>C (p.Lys172Asn)
c.2958A>C (p.Lys986Asn)
c.1278A>C (p.Lys426Asn)
Xg.108624261A>GCA517924974COL4A5c.2943A>G (p.Lys981=)
n.2399A>G
c.176A>G
c.2619A>G (p.Lys873=)
c.516A>G (p.Lys172=)
c.2958A>G (p.Lys986=)
c.1278A>G (p.Lys426=)
Xg.108624261A>TCA413853246COL4A5c.2943A>T (p.Lys981Asn)
n.2399A>T
c.176A>T
c.2619A>T (p.Lys873Asn)
c.516A>T (p.Lys172Asn)
c.2958A>T (p.Lys986Asn)
c.1278A>T (p.Lys426Asn)
Xg.108624262G>ACA413853248COL4A5c.2944G>A (p.Gly982Ser)
n.2400G>A
c.177G>A
c.2620G>A (p.Gly874Ser)
c.517G>A (p.Gly173Ser)
c.2959G>A (p.Gly987Ser)
c.1279G>A (p.Gly427Ser)
Xg.108624262G>CCA413853249COL4A5c.2944G>C (p.Gly982Arg)
n.2400G>C
c.177G>C
c.2620G>C (p.Gly874Arg)
c.517G>C (p.Gly173Arg)
c.2959G>C (p.Gly987Arg)
c.1279G>C (p.Gly427Arg)
Xg.108624262G>TCA413853250COL4A5c.2944G>T (p.Gly982Cys)
n.2400G>T
c.177G>T
c.2620G>T (p.Gly874Cys)
c.517G>T (p.Gly173Cys)
c.2959G>T (p.Gly987Cys)
c.1279G>T (p.Gly427Cys)
Xg.108624263G>ACA413853254COL4A5c.2945G>A (p.Gly982Asp)
n.2401G>A
c.178G>A
c.2621G>A (p.Gly874Asp)
c.518G>A (p.Gly173Asp)
c.2960G>A (p.Gly987Asp)
c.1280G>A (p.Gly427Asp)
Xg.108624263G>CCA413853257COL4A5c.2945G>C (p.Gly982Ala)
n.2401G>C
c.178G>C
c.2621G>C (p.Gly874Ala)
c.518G>C (p.Gly173Ala)
c.2960G>C (p.Gly987Ala)
c.1280G>C (p.Gly427Ala)
 gnomAD v4
Xg.108624263G>TCA413853258COL4A5c.2945G>T (p.Gly982Val)
n.2401G>T
c.178G>T
c.2621G>T (p.Gly874Val)
c.518G>T (p.Gly173Val)
c.2960G>T (p.Gly987Val)
c.1280G>T (p.Gly427Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.108624263_108624264delinsGTCA2450697333COL4A5c.2945_2946delinsGT (p.Gly982=)
n.2401_2402delinsGT
c.178_179delinsGT
c.2621_2622delinsGT (p.Gly874=)
c.518_519delinsGT (p.Gly173=)
c.2960_2961delinsGT (p.Gly987=)
c.1280_1281delinsGT (p.Gly427=)
Xg.108624264T>ACA517924977COL4A5c.2946T>A (p.Gly982=)
n.2402T>A
c.179T>A
c.2622T>A (p.Gly874=)
c.519T>A (p.Gly173=)
c.2961T>A (p.Gly987=)
c.1281T>A (p.Gly427=)
Xg.108624264T>CCA517924978COL4A5c.2946T>C (p.Gly982=)
n.2402T>C
c.179T>C
c.2622T>C (p.Gly874=)
c.519T>C (p.Gly173=)
c.2961T>C (p.Gly987=)
c.1281T>C (p.Gly427=)
 ClinVar
Xg.108624264T>GCA517924976COL4A5c.2946T>G (p.Gly982=)
n.2402T>G
c.179T>G
c.2622T>G (p.Gly874=)
c.519T>G (p.Gly173=)
c.2961T>G (p.Gly987=)
c.1281T>G (p.Gly427=)
Xg.108624265dupCA2695235748COL4A5c.2947dup (p.Tyr983LeufsTer28)
n.2403dup
c.180dup
c.2623dup (p.Tyr875LeufsTer28)
c.520dup (p.Tyr174LeufsTer28)
c.2962dup (p.Tyr988LeufsTer28)
c.1282dup (p.Tyr428LeufsTer28)
Xg.108624265delCA261089COL4A5c.2947del (p.Tyr983IlefsTer13)
n.2403del
c.180del
c.2623del (p.Tyr875IlefsTer13)
c.520del (p.Tyr174IlefsTer13)
c.2962del (p.Tyr988IlefsTer13)
c.1282del (p.Tyr428IlefsTer13)
 dbSNP
Xg.108624265T>ACA413853267COL4A5c.2947T>A (p.Tyr983Asn)
n.2403T>A
c.180T>A
c.2623T>A (p.Tyr875Asn)
c.520T>A (p.Tyr174Asn)
c.2962T>A (p.Tyr988Asn)
c.1282T>A (p.Tyr428Asn)
Xg.108624265T>CCA413853265COL4A5c.2947T>C (p.Tyr983His)
n.2403T>C
c.180T>C
c.2623T>C (p.Tyr875His)
c.520T>C (p.Tyr174His)
c.2962T>C (p.Tyr988His)
c.1282T>C (p.Tyr428His)
Xg.108624265T>GCA413853266COL4A5c.2947T>G (p.Tyr983Asp)
n.2403T>G
c.180T>G
c.2623T>G (p.Tyr875Asp)
c.520T>G (p.Tyr174Asp)
c.2962T>G (p.Tyr988Asp)
c.1282T>G (p.Tyr428Asp)
Xg.108624266A=CA2450697334COL4A5c.2948A= (p.Tyr983=)
n.2404A=
c.181A=
c.2624A= (p.Tyr875=)
c.521A= (p.Tyr174=)
c.2963A= (p.Tyr988=)
c.1283A= (p.Tyr428=)
Xg.108624266A>CCA413853268COL4A5c.2948A>C (p.Tyr983Ser)
n.2404A>C
c.181A>C
c.2624A>C (p.Tyr875Ser)
c.521A>C (p.Tyr174Ser)
c.2963A>C (p.Tyr988Ser)
c.1283A>C (p.Tyr428Ser)
Xg.108624266A>GCA413853269COL4A5c.2948A>G (p.Tyr983Cys)
n.2404A>G
c.181A>G
c.2624A>G (p.Tyr875Cys)
c.521A>G (p.Tyr174Cys)
c.2963A>G (p.Tyr988Cys)
c.1283A>G (p.Tyr428Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108624266A>TCA413853271COL4A5c.2948A>T (p.Tyr983Phe)
n.2404A>T
c.181A>T
c.2624A>T (p.Tyr875Phe)
c.521A>T (p.Tyr174Phe)
c.2963A>T (p.Tyr988Phe)
c.1283A>T (p.Tyr428Phe)
Xg.108624267T>ACA413853272COL4A5c.2949T>A (p.Tyr983Ter)
n.2405T>A
c.182T>A
c.2625T>A (p.Tyr875Ter)
c.522T>A (p.Tyr174Ter)
c.2964T>A (p.Tyr988Ter)
c.1284T>A (p.Tyr428Ter)
 ClinVar dbSNP
Xg.108624267T>CCA517924982COL4A5c.2949T>C (p.Tyr983=)
n.2405T>C
c.182T>C
c.2625T>C (p.Tyr875=)
c.522T>C (p.Tyr174=)
c.2964T>C (p.Tyr988=)
c.1284T>C (p.Tyr428=)
Xg.108624267T>GCA413853274COL4A5c.2949T>G (p.Tyr983Ter)
n.2405T>G
c.182T>G
c.2625T>G (p.Tyr875Ter)
c.522T>G (p.Tyr174Ter)
c.2964T>G (p.Tyr988Ter)
c.1284T>G (p.Tyr428Ter)
Xg.108624267T=CA2450697335COL4A5c.2949T= (p.Tyr983=)
n.2405T=
c.182T=
c.2625T= (p.Tyr875=)
c.522T= (p.Tyr174=)
c.2964T= (p.Tyr988=)
c.1284T= (p.Tyr428=)
Xg.108624268C>ACA413853276COL4A5c.2950C>A (p.Gln984Lys)
n.2406C>A
c.183C>A
c.2626C>A (p.Gln876Lys)
c.523C>A (p.Gln175Lys)
c.2965C>A (p.Gln989Lys)
c.1285C>A (p.Gln429Lys)
Xg.108624268C>GCA413853277COL4A5c.2950C>G (p.Gln984Glu)
n.2406C>G
c.183C>G
c.2626C>G (p.Gln876Glu)
c.523C>G (p.Gln175Glu)
c.2965C>G (p.Gln989Glu)
c.1285C>G (p.Gln429Glu)
Xg.108624268C>TCA413853284COL4A5c.2950C>T (p.Gln984Ter)
n.2406C>T
c.183C>T
c.2626C>T (p.Gln876Ter)
c.523C>T (p.Gln175Ter)
c.2965C>T (p.Gln989Ter)
c.1285C>T (p.Gln429Ter)
 ClinVar dbSNP
Xg.108624269A=CA2450697336COL4A5c.2951A= (p.Gln984=)
n.2407A=
c.184A=
c.2627A= (p.Gln876=)
c.524A= (p.Gln175=)
c.2966A= (p.Gln989=)
c.1286A= (p.Gln429=)
Xg.108624269A>CCA413853286COL4A5c.2951A>C (p.Gln984Pro)
n.2407A>C
c.184A>C
c.2627A>C (p.Gln876Pro)
c.524A>C (p.Gln175Pro)
c.2966A>C (p.Gln989Pro)
c.1286A>C (p.Gln429Pro)
Xg.108624269A>GCA413853287COL4A5c.2951A>G (p.Gln984Arg)
n.2407A>G
c.184A>G
c.2627A>G (p.Gln876Arg)
c.524A>G (p.Gln175Arg)
c.2966A>G (p.Gln989Arg)
c.1286A>G (p.Gln429Arg)
 dbSNP gnomAD v4
Xg.108624269A>TCA10489005COL4A5c.2951A>T (p.Gln984Leu)
n.2407A>T
c.184A>T
c.2627A>T (p.Gln876Leu)
c.524A>T (p.Gln175Leu)
c.2966A>T (p.Gln989Leu)
c.1286A>T (p.Gln429Leu)
 dbSNP ExAC gnomAD v2
Xg.108624270G>ACA517924987COL4A5c.2952G>A (p.Gln984=)
n.2408G>A
c.185G>A
c.2628G>A (p.Gln876=)
c.525G>A (p.Gln175=)
c.2967G>A (p.Gln989=)
c.1287G>A (p.Gln429=)
Xg.108624270G>CCA413853289COL4A5c.2952G>C (p.Gln984His)
n.2408G>C
c.185G>C
c.2628G>C (p.Gln876His)
c.525G>C (p.Gln175His)
c.2967G>C (p.Gln989His)
c.1287G>C (p.Gln429His)
Xg.108624270G>TCA413853288COL4A5c.2952G>T (p.Gln984His)
n.2408G>T
c.185G>T
c.2628G>T (p.Gln876His)
c.525G>T (p.Gln175His)
c.2967G>T (p.Gln989His)
c.1287G>T (p.Gln429His)
Xg.108624272delCA2695197173COL4A5c.2954del (p.Gly985ValfsTer11)
n.2410del
c.187del
c.2630del (p.Gly877ValfsTer11)
c.527del (p.Gly176ValfsTer11)
c.2969del (p.Gly990ValfsTer11)
c.1289del (p.Gly430ValfsTer11)
 ClinVar
Xg.108624271G>ACA413853291COL4A5c.2953G>A (p.Gly985Ser)
n.2409G>A
c.186G>A
c.2629G>A (p.Gly877Ser)
c.526G>A (p.Gly176Ser)
c.2968G>A (p.Gly990Ser)
c.1288G>A (p.Gly430Ser)
Xg.108624271G>CCA413853294COL4A5c.2953G>C (p.Gly985Arg)
n.2409G>C
c.186G>C
c.2629G>C (p.Gly877Arg)
c.526G>C (p.Gly176Arg)
c.2968G>C (p.Gly990Arg)
c.1288G>C (p.Gly430Arg)
Xg.108624271G>TCA413853295COL4A5c.2953G>T (p.Gly985Cys)
n.2409G>T
c.186G>T
c.2629G>T (p.Gly877Cys)
c.526G>T (p.Gly176Cys)
c.2968G>T (p.Gly990Cys)
c.1288G>T (p.Gly430Cys)
 COSMIC COSMIC
Xg.108624272G>ACA413853298COL4A5c.2954G>A (p.Gly985Asp)
n.2410G>A
c.187G>A
c.2630G>A (p.Gly877Asp)
c.527G>A (p.Gly176Asp)
c.2969G>A (p.Gly990Asp)
c.1289G>A (p.Gly430Asp)
Xg.108624272G>CCA413853299COL4A5c.2954G>C (p.Gly985Ala)
n.2410G>C
c.187G>C
c.2630G>C (p.Gly877Ala)
c.527G>C (p.Gly176Ala)
c.2969G>C (p.Gly990Ala)
c.1289G>C (p.Gly430Ala)
Xg.108624272G>TCA413853300COL4A5c.2954G>T (p.Gly985Val)
n.2410G>T
c.187G>T
c.2630G>T (p.Gly877Val)
c.527G>T (p.Gly176Val)
c.2969G>T (p.Gly990Val)
c.1289G>T (p.Gly430Val)
Xg.108624273T>ACA517924992COL4A5c.2955T>A (p.Gly985=)
n.2411T>A
c.188T>A
c.2631T>A (p.Gly877=)
c.528T>A (p.Gly176=)
c.2970T>A (p.Gly990=)
c.1290T>A (p.Gly430=)
Xg.108624273T>CCA517924993COL4A5c.2955T>C (p.Gly985=)
n.2411T>C
c.188T>C
c.2631T>C (p.Gly877=)
c.528T>C (p.Gly176=)
c.2970T>C (p.Gly990=)
c.1290T>C (p.Gly430=)
Xg.108624273T>GCA517924994COL4A5c.2955T>G (p.Gly985=)
n.2411T>G
c.188T>G
c.2631T>G (p.Gly877=)
c.528T>G (p.Gly176=)
c.2970T>G (p.Gly990=)
c.1290T>G (p.Gly430=)
Xg.108624274T>ACA413853301COL4A5c.2956T>A (p.Leu986Met)
n.2412T>A
c.189T>A
c.2632T>A (p.Leu878Met)
c.529T>A (p.Leu177Met)
c.2971T>A (p.Leu991Met)
c.1291T>A (p.Leu431Met)
Xg.108624274T>CCA517924995COL4A5c.2956T>C (p.Leu986=)
n.2412T>C
c.189T>C
c.2632T>C (p.Leu878=)
c.529T>C (p.Leu177=)
c.2971T>C (p.Leu991=)
c.1291T>C (p.Leu431=)
Xg.108624274T>GCA413853303COL4A5c.2956T>G (p.Leu986Val)
n.2412T>G
c.189T>G
c.2632T>G (p.Leu878Val)
c.529T>G (p.Leu177Val)
c.2971T>G (p.Leu991Val)
c.1291T>G (p.Leu431Val)
Xg.108624275T>ACA413853305COL4A5c.2957T>A (p.Leu986Ter)
n.2413T>A
c.190T>A
c.2633T>A (p.Leu878Ter)
c.530T>A (p.Leu177Ter)
c.2972T>A (p.Leu991Ter)
c.1292T>A (p.Leu431Ter)
 ClinVar dbSNP
Xg.108624275T>CCA413853307COL4A5c.2957T>C (p.Leu986Ser)
n.2413T>C
c.190T>C
c.2633T>C (p.Leu878Ser)
c.530T>C (p.Leu177Ser)
c.2972T>C (p.Leu991Ser)
c.1292T>C (p.Leu431Ser)
Xg.108624275T>GCA413853309COL4A5c.2957T>G (p.Leu986Trp)
n.2413T>G
c.190T>G
c.2633T>G (p.Leu878Trp)
c.530T>G (p.Leu177Trp)
c.2972T>G (p.Leu991Trp)
c.1292T>G (p.Leu431Trp)
Xg.108624275T=CA2450697338COL4A5c.2957T= (p.Leu986=)
n.2413T=
c.190T=
c.2633T= (p.Leu878=)
c.530T= (p.Leu177=)
c.2972T= (p.Leu991=)
c.1292T= (p.Leu431=)
Xg.108624275_108624293delinsTGCCTGGAGACCCAGGGCACA2450697337COL4A5c.2957_2975delinsTGCCTGGAGACCCAGGGCA (p.Leu986=)
n.2413_2431delinsTGCCTGGAGACCCAGGGCA
c.190_208delinsTGCCTGGAGACCCAGGGCA
c.2633_2651delinsTGCCTGGAGACCCAGGGCA (p.Leu878=)
c.530_548delinsTGCCTGGAGACCCAGGGCA (p.Leu177=)
c.2972_2990delinsTGCCTGGAGACCCAGGGCA (p.Leu991=)
c.1292_1310delinsTGCCTGGAGACCCAGGGCA (p.Leu431=)
Xg.108624276G>ACA517924998COL4A5c.2958G>A (p.Leu986=)
n.2414G>A
c.191G>A
c.2634G>A (p.Leu878=)
c.531G>A (p.Leu177=)
c.2973G>A (p.Leu991=)
c.1293G>A (p.Leu431=)
Xg.108624276G>CCA413853312COL4A5c.2958G>C (p.Leu986Phe)
n.2414G>C
c.191G>C
c.2634G>C (p.Leu878Phe)
c.531G>C (p.Leu177Phe)
c.2973G>C (p.Leu991Phe)
c.1293G>C (p.Leu431Phe)
Xg.108624276G=CA2450697339COL4A5c.2958G= (p.Leu986=)
n.2414G=
c.191G=
c.2634G= (p.Leu878=)
c.531G= (p.Leu177=)
c.2973G= (p.Leu991=)
c.1293G= (p.Leu431=)
Xg.108624276G>TCA334051495COL4A5c.2958G>T (p.Leu986Phe)
n.2414G>T
c.191G>T
c.2634G>T (p.Leu878Phe)
c.531G>T (p.Leu177Phe)
c.2973G>T (p.Leu991Phe)
c.1293G>T (p.Leu431Phe)
 dbSNP gnomAD v4
Xg.108624276_108624293delCA658799838COL4A5c.2958_2975del (p.Pro987_Gln992del)
n.2414_2431del
c.191_208del
c.2634_2651del (p.Pro879_Gln884del)
c.531_548del (p.Pro178_Gln183del)
c.2973_2990del (p.Pro992_Gln997del)
c.1293_1310del (p.Pro432_Gln437del)
 ClinVar dbSNP
Xg.108624276_108624294delinsGCCTGGAGACCCAGGGCAACA2450697340COL4A5c.2958_2976delinsGCCTGGAGACCCAGGGCAA (p.Leu986=)
n.2414_2432delinsGCCTGGAGACCCAGGGCAA
c.191_209delinsGCCTGGAGACCCAGGGCAA
c.2634_2652delinsGCCTGGAGACCCAGGGCAA (p.Leu878=)
c.531_549delinsGCCTGGAGACCCAGGGCAA (p.Leu177=)
c.2973_2991delinsGCCTGGAGACCCAGGGCAA (p.Leu991=)
c.1293_1311delinsGCCTGGAGACCCAGGGCAA (p.Leu431=)
Xg.108624277C>ACA413853336COL4A5c.2959C>A (p.Pro987Thr)
n.2415C>A
c.192C>A
c.2635C>A (p.Pro879Thr)
c.532C>A (p.Pro178Thr)
c.2974C>A (p.Pro992Thr)
c.1294C>A (p.Pro432Thr)
 ClinVar gnomAD v4
Xg.108624277C>GCA413853335COL4A5c.2959C>G (p.Pro987Ala)
n.2415C>G
c.192C>G
c.2635C>G (p.Pro879Ala)
c.532C>G (p.Pro178Ala)
c.2974C>G (p.Pro992Ala)
c.1294C>G (p.Pro432Ala)
Xg.108624277C>TCA413853317COL4A5c.2959C>T (p.Pro987Ser)
n.2415C>T
c.192C>T
c.2635C>T (p.Pro879Ser)
c.532C>T (p.Pro178Ser)
c.2974C>T (p.Pro992Ser)
c.1294C>T (p.Pro432Ser)
Xg.108624283_108624300delCA258783COL4A5c.2965_2982del (p.Asp989_Gly994del)
n.2421_2438del
c.198_215del
c.2641_2658del (p.Asp881_Gly886del)
c.538_555del (p.Asp180_Gly185del)
c.2980_2997del (p.Asp994_Gly999del)
c.1300_1317del (p.Asp434_Gly439del)
 ClinVar dbSNP
Xg.108624278C>ACA413853351COL4A5c.2960C>A (p.Pro987His)
n.2416C>A
c.193C>A
c.2636C>A (p.Pro879His)
c.533C>A (p.Pro178His)
c.2975C>A (p.Pro992His)
c.1295C>A (p.Pro432His)
Xg.108624278C>GCA413853357COL4A5c.2960C>G (p.Pro987Arg)
n.2416C>G
c.193C>G
c.2636C>G (p.Pro879Arg)
c.533C>G (p.Pro178Arg)
c.2975C>G (p.Pro992Arg)
c.1295C>G (p.Pro432Arg)
Xg.108624278C>TCA413853358COL4A5c.2960C>T (p.Pro987Leu)
n.2416C>T
c.193C>T
c.2636C>T (p.Pro879Leu)
c.533C>T (p.Pro178Leu)
c.2975C>T (p.Pro992Leu)
c.1295C>T (p.Pro432Leu)
Xg.108624279T>ACA517925004COL4A5c.2961T>A (p.Pro987=)
n.2417T>A
c.194T>A
c.2637T>A (p.Pro879=)
c.534T>A (p.Pro178=)
c.2976T>A (p.Pro992=)
c.1296T>A (p.Pro432=)
Xg.108624279T>CCA517925005COL4A5c.2961T>C (p.Pro987=)
n.2417T>C
c.194T>C
c.2637T>C (p.Pro879=)
c.534T>C (p.Pro178=)
c.2976T>C (p.Pro992=)
c.1296T>C (p.Pro432=)
Xg.108624279T>GCA517925006COL4A5c.2961T>G (p.Pro987=)
n.2417T>G
c.194T>G
c.2637T>G (p.Pro879=)
c.534T>G (p.Pro178=)
c.2976T>G (p.Pro992=)
c.1296T>G (p.Pro432=)
 dbSNP
Xg.108624279T=CA2450697341COL4A5c.2961T= (p.Pro987=)
n.2417T=
c.194T=
c.2637T= (p.Pro879=)
c.534T= (p.Pro178=)
c.2976T= (p.Pro992=)
c.1296T= (p.Pro432=)
Xg.108624280G>ACA413853360COL4A5c.2962G>A (p.Gly988Arg)
n.2418G>A
c.195G>A
c.2638G>A (p.Gly880Arg)
c.535G>A (p.Gly179Arg)
c.2977G>A (p.Gly993Arg)
c.1297G>A (p.Gly433Arg)
Xg.108624280G>CCA413853361COL4A5c.2962G>C (p.Gly988Arg)
n.2418G>C
c.195G>C
c.2638G>C (p.Gly880Arg)
c.535G>C (p.Gly179Arg)
c.2977G>C (p.Gly993Arg)
c.1297G>C (p.Gly433Arg)
Xg.108624280G>TCA413853363COL4A5c.2962G>T (p.Gly988Ter)
n.2418G>T
c.195G>T
c.2638G>T (p.Gly880Ter)
c.535G>T (p.Gly179Ter)
c.2977G>T (p.Gly993Ter)
c.1297G>T (p.Gly433Ter)
 ClinVar
Xg.108624281G>ACA413853377COL4A5c.2963G>A (p.Gly988Glu)
n.2419G>A
c.196G>A
c.2639G>A (p.Gly880Glu)
c.536G>A (p.Gly179Glu)
c.2978G>A (p.Gly993Glu)
c.1298G>A (p.Gly433Glu)
 ClinVar dbSNP
Xg.108624281G>CCA413853382COL4A5c.2963G>C (p.Gly988Ala)
n.2419G>C
c.196G>C
c.2639G>C (p.Gly880Ala)
c.536G>C (p.Gly179Ala)
c.2978G>C (p.Gly993Ala)
c.1298G>C (p.Gly433Ala)
Xg.108624281G=CA2450697342COL4A5c.2963G= (p.Gly988=)
n.2419G=
c.196G=
c.2639G= (p.Gly880=)
c.536G= (p.Gly179=)
c.2978G= (p.Gly993=)
c.1298G= (p.Gly433=)
Xg.108624281G>TCA413853379COL4A5c.2963G>T (p.Gly988Val)
n.2419G>T
c.196G>T
c.2639G>T (p.Gly880Val)
c.536G>T (p.Gly179Val)
c.2978G>T (p.Gly993Val)
c.1298G>T (p.Gly433Val)
Xg.108624282A>CCA517925011COL4A5c.2964A>C (p.Gly988=)
n.2420A>C
c.197A>C
c.2640A>C (p.Gly880=)
c.537A>C (p.Gly179=)
c.2979A>C (p.Gly993=)
c.1299A>C (p.Gly433=)
Xg.108624282A>GCA517925014COL4A5c.2964A>G (p.Gly988=)
n.2420A>G
c.197A>G
c.2640A>G (p.Gly880=)
c.537A>G (p.Gly179=)
c.2979A>G (p.Gly993=)
c.1299A>G (p.Gly433=)
Xg.108624282A>TCA517925016COL4A5c.2964A>T (p.Gly988=)
n.2420A>T
c.197A>T
c.2640A>T (p.Gly880=)
c.537A>T (p.Gly179=)
c.2979A>T (p.Gly993=)
c.1299A>T (p.Gly433=)
Xg.108624282_108624283delinsAGCA2450697343COL4A5c.2964_2965delinsAG (p.Gly988=)
n.2420_2421delinsAG
c.197_198delinsAG
c.2640_2641delinsAG (p.Gly880=)
c.537_538delinsAG (p.Gly179=)
c.2979_2980delinsAG (p.Gly993=)
c.1299_1300delinsAG (p.Gly433=)
Xg.108624283delCA258786COL4A5c.2965del (p.Asp989ThrfsTer7)
n.2421del
c.198del
c.2641del (p.Asp881ThrfsTer7)
c.538del (p.Asp180ThrfsTer7)
c.2980del (p.Asp994ThrfsTer7)
c.1300del (p.Asp434ThrfsTer7)
 dbSNP
Xg.108624283G>ACA413853386COL4A5c.2965G>A (p.Asp989Asn)
n.2421G>A
c.198G>A
c.2641G>A (p.Asp881Asn)
c.538G>A (p.Asp180Asn)
c.2980G>A (p.Asp994Asn)
c.1300G>A (p.Asp434Asn)
Xg.108624283G>CCA413853387COL4A5c.2965G>C (p.Asp989His)
n.2421G>C
c.198G>C
c.2641G>C (p.Asp881His)
c.538G>C (p.Asp180His)
c.2980G>C (p.Asp994His)
c.1300G>C (p.Asp434His)
Xg.108624283G=CA2580701032COL4A5c.2965G= (p.Asp989=)
n.2421G=
c.198G=
c.2641G= (p.Asp881=)
c.538G= (p.Asp180=)
c.2980G= (p.Asp994=)
c.1300G= (p.Asp434=)
Xg.108624283G>TCA413853388COL4A5c.2965G>T (p.Asp989Tyr)
n.2421G>T
c.198G>T
c.2641G>T (p.Asp881Tyr)
c.538G>T (p.Asp180Tyr)
c.2980G>T (p.Asp994Tyr)
c.1300G>T (p.Asp434Tyr)
Xg.108624283_108624286delinsCTGAGTGCCCAGTCA2695235749COL4A5c.2965_2968delinsCTGAGTGCCCAGT (p.Asp989_Pro990delinsLeuSerAlaGlnSer)
n.2421_2424delinsCTGAGTGCCCAGT
c.198_201delinsCTGAGTGCCCAGT
c.2641_2644delinsCTGAGTGCCCAGT (p.Asp881_Pro882delinsLeuSerAlaGlnSer)
c.538_541delinsCTGAGTGCCCAGT (p.Asp180_Pro181delinsLeuSerAlaGlnSer)
c.2980_2983delinsCTGAGTGCCCAGT (p.Asp994_Pro995delinsLeuSerAlaGlnSer)
c.1300_1303delinsCTGAGTGCCCAGT (p.Asp434_Pro435delinsLeuSerAlaGlnSer)
Xg.108624284A>CCA413853389COL4A5c.2966A>C (p.Asp989Ala)
n.2422A>C
c.199A>C
c.2642A>C (p.Asp881Ala)
c.539A>C (p.Asp180Ala)
c.2981A>C (p.Asp994Ala)
c.1301A>C (p.Asp434Ala)
Xg.108624284A>GCA413853394COL4A5c.2966A>G (p.Asp989Gly)
n.2422A>G
c.199A>G
c.2642A>G (p.Asp881Gly)
c.539A>G (p.Asp180Gly)
c.2981A>G (p.Asp994Gly)
c.1301A>G (p.Asp434Gly)
Xg.108624284A>TCA413853391COL4A5c.2966A>T (p.Asp989Val)
n.2422A>T
c.199A>T
c.2642A>T (p.Asp881Val)
c.539A>T (p.Asp180Val)
c.2981A>T (p.Asp994Val)
c.1301A>T (p.Asp434Val)
Xg.108624284_108624301dupCA2694440385COL4A5c.2966_2983dup (p.Gly994_Leu995insHisProGlyGlnProGly)
n.2422_2439dup
c.199_216dup
c.2642_2659dup (p.Gly886_Leu887insHisProGlyGlnProGly)
c.539_556dup (p.Gly185_Leu186insHisProGlyGlnProGly)
c.2981_2998dup (p.Gly999_Leu1000insHisProGlyGlnProGly)
c.1301_1318dup (p.Gly439_Leu440insHisProGlyGlnProGly)
 gnomAD v4
Xg.108624285C>ACA413853397COL4A5c.2967C>A (p.Asp989Glu)
n.2423C>A
c.200C>A
c.2643C>A (p.Asp881Glu)
c.540C>A (p.Asp180Glu)
c.2982C>A (p.Asp994Glu)
c.1302C>A (p.Asp434Glu)
Xg.108624285C>GCA413853399COL4A5c.2967C>G (p.Asp989Glu)
n.2423C>G
c.200C>G
c.2643C>G (p.Asp881Glu)
c.540C>G (p.Asp180Glu)
c.2982C>G (p.Asp994Glu)
c.1302C>G (p.Asp434Glu)
Xg.108624285C>TCA517925024COL4A5c.2967C>T (p.Asp989=)
n.2423C>T
c.200C>T
c.2643C>T (p.Asp881=)
c.540C>T (p.Asp180=)
c.2982C>T (p.Asp994=)
c.1302C>T (p.Asp434=)
 gnomAD v4
Xg.108624286C>ACA413853402COL4A5c.2968C>A (p.Pro990Thr)
n.2424C>A
c.201C>A
c.2644C>A (p.Pro882Thr)
c.541C>A (p.Pro181Thr)
c.2983C>A (p.Pro995Thr)
c.1303C>A (p.Pro435Thr)
 COSMIC
Xg.108624286C>GCA413853406COL4A5c.2968C>G (p.Pro990Ala)
n.2424C>G
c.201C>G
c.2644C>G (p.Pro882Ala)
c.541C>G (p.Pro181Ala)
c.2983C>G (p.Pro995Ala)
c.1303C>G (p.Pro435Ala)
Xg.108624286C>TCA413853407COL4A5c.2968C>T (p.Pro990Ser)
n.2424C>T
c.201C>T
c.2644C>T (p.Pro882Ser)
c.541C>T (p.Pro181Ser)
c.2983C>T (p.Pro995Ser)
c.1303C>T (p.Pro435Ser)
 COSMIC COSMIC
Xg.108624287C>ACA413853415COL4A5c.2969C>A (p.Pro990Gln)
n.2425C>A
c.202C>A
c.2645C>A (p.Pro882Gln)
c.542C>A (p.Pro181Gln)
c.2984C>A (p.Pro995Gln)
c.1304C>A (p.Pro435Gln)
Xg.108624287C>GCA413853413COL4A5c.2969C>G (p.Pro990Arg)
n.2425C>G
c.202C>G
c.2645C>G (p.Pro882Arg)
c.542C>G (p.Pro181Arg)
c.2984C>G (p.Pro995Arg)
c.1304C>G (p.Pro435Arg)
Xg.108624287C>TCA413853410COL4A5c.2969C>T (p.Pro990Leu)
n.2425C>T
c.202C>T
c.2645C>T (p.Pro882Leu)
c.542C>T (p.Pro181Leu)
c.2984C>T (p.Pro995Leu)
c.1304C>T (p.Pro435Leu)
Xg.108624288A>CCA517925035COL4A5c.2970A>C (p.Pro990=)
n.2426A>C
c.203A>C
c.2646A>C (p.Pro882=)
c.543A>C (p.Pro181=)
c.2985A>C (p.Pro995=)
c.1305A>C (p.Pro435=)
Xg.108624288A>GCA517925036COL4A5c.2970A>G (p.Pro990=)
n.2426A>G
c.203A>G
c.2646A>G (p.Pro882=)
c.543A>G (p.Pro181=)
c.2985A>G (p.Pro995=)
c.1305A>G (p.Pro435=)
Xg.108624288A>TCA517925037COL4A5c.2970A>T (p.Pro990=)
n.2426A>T
c.203A>T
c.2646A>T (p.Pro882=)
c.543A>T (p.Pro181=)
c.2985A>T (p.Pro995=)
c.1305A>T (p.Pro435=)
Xg.108624289G>ACA413853418COL4A5c.2971G>A (p.Gly991Arg)
n.2427G>A
c.204G>A
c.2647G>A (p.Gly883Arg)
c.544G>A (p.Gly182Arg)
c.2986G>A (p.Gly996Arg)
c.1306G>A (p.Gly436Arg)
Xg.108624289G>CCA413853419COL4A5c.2971G>C (p.Gly991Arg)
n.2427G>C
c.204G>C
c.2647G>C (p.Gly883Arg)
c.544G>C (p.Gly182Arg)
c.2986G>C (p.Gly996Arg)
c.1306G>C (p.Gly436Arg)
Xg.108624289G>TCA413853421COL4A5c.2971G>T (p.Gly991Trp)
n.2427G>T
c.204G>T
c.2647G>T (p.Gly883Trp)
c.544G>T (p.Gly182Trp)
c.2986G>T (p.Gly996Trp)
c.1306G>T (p.Gly436Trp)
Xg.108624290G>ACA413853424COL4A5c.2972G>A (p.Gly991Glu)
n.2428G>A
c.205G>A
c.2648G>A (p.Gly883Glu)
c.545G>A (p.Gly182Glu)
c.2987G>A (p.Gly996Glu)
c.1307G>A (p.Gly436Glu)
 gnomAD v4
Xg.108624290G>CCA413853425COL4A5c.2972G>C (p.Gly991Ala)
n.2428G>C
c.205G>C
c.2648G>C (p.Gly883Ala)
c.545G>C (p.Gly182Ala)
c.2987G>C (p.Gly996Ala)
c.1307G>C (p.Gly436Ala)
Xg.108624290G>TCA413853431COL4A5c.2972G>T (p.Gly991Val)
n.2428G>T
c.205G>T
c.2648G>T (p.Gly883Val)
c.545G>T (p.Gly182Val)
c.2987G>T (p.Gly996Val)
c.1307G>T (p.Gly436Val)
Xg.108624291G>ACA517925047COL4A5c.2973G>A (p.Gly991=)
n.2429G>A
c.206G>A
c.2649G>A (p.Gly883=)
c.546G>A (p.Gly182=)
c.2988G>A (p.Gly996=)
c.1308G>A (p.Gly436=)
Xg.108624291G>CCA517925045COL4A5c.2973G>C (p.Gly991=)
n.2429G>C
c.206G>C
c.2649G>C (p.Gly883=)
c.546G>C (p.Gly182=)
c.2988G>C (p.Gly996=)
c.1308G>C (p.Gly436=)
Xg.108624291G>TCA517925046COL4A5c.2973G>T (p.Gly991=)
n.2429G>T
c.206G>T
c.2649G>T (p.Gly883=)
c.546G>T (p.Gly182=)
c.2988G>T (p.Gly996=)
c.1308G>T (p.Gly436=)
Xg.108624292C>ACA413853435COL4A5c.2974C>A (p.Gln992Lys)
n.2430C>A
c.207C>A
c.2650C>A (p.Gln884Lys)
c.547C>A (p.Gln183Lys)
c.2989C>A (p.Gln997Lys)
c.1309C>A (p.Gln437Lys)
Xg.108624292C>GCA413853439COL4A5c.2974C>G (p.Gln992Glu)
n.2430C>G
c.207C>G
c.2650C>G (p.Gln884Glu)
c.547C>G (p.Gln183Glu)
c.2989C>G (p.Gln997Glu)
c.1309C>G (p.Gln437Glu)
Xg.108624292C>TCA413853436COL4A5c.2974C>T (p.Gln992Ter)
n.2430C>T
c.207C>T
c.2650C>T (p.Gln884Ter)
c.547C>T (p.Gln183Ter)
c.2989C>T (p.Gln997Ter)
c.1309C>T (p.Gln437Ter)
 ClinVar dbSNP
Xg.108624292_108624299delinsCAACCTGGCA2450697344COL4A5c.2974_2981delinsCAACCTGG (p.Gln992=)
n.2430_2437delinsCAACCTGG
c.207_214delinsCAACCTGG
c.2650_2657delinsCAACCTGG (p.Gln884=)
c.547_554delinsCAACCTGG (p.Gln183=)
c.2989_2996delinsCAACCTGG (p.Gln997=)
c.1309_1316delinsCAACCTGG (p.Gln437=)
Xg.108624293A>CCA413853443COL4A5c.2975A>C (p.Gln992Pro)
n.2431A>C
c.208A>C
c.2651A>C (p.Gln884Pro)
c.548A>C (p.Gln183Pro)
c.2990A>C (p.Gln997Pro)
c.1310A>C (p.Gln437Pro)
Xg.108624293A>GCA413853449COL4A5c.2975A>G (p.Gln992Arg)
n.2431A>G
c.208A>G
c.2651A>G (p.Gln884Arg)
c.548A>G (p.Gln183Arg)
c.2990A>G (p.Gln997Arg)
c.1310A>G (p.Gln437Arg)
Xg.108624293A>TCA413853454COL4A5c.2975A>T (p.Gln992Leu)
n.2431A>T
c.208A>T
c.2651A>T (p.Gln884Leu)
c.548A>T (p.Gln183Leu)
c.2990A>T (p.Gln997Leu)
c.1310A>T (p.Gln437Leu)
Xg.108624294_108624300delCA891843948COL4A5c.2976_2982del (p.Gln992HisfsTer2)
n.2432_2438del
c.209_215del
c.2652_2658del (p.Gln884HisfsTer2)
c.549_555del (p.Gln183HisfsTer2)
c.2991_2997del (p.Gln997HisfsTer2)
c.1311_1317del (p.Gln437HisfsTer2)
Xg.108624294A>CCA413853458COL4A5c.2976A>C (p.Gln992His)
n.2432A>C
c.209A>C
c.2652A>C (p.Gln884His)
c.549A>C (p.Gln183His)
c.2991A>C (p.Gln997His)
c.1311A>C (p.Gln437His)
Xg.108624294A>GCA517925049COL4A5c.2976A>G (p.Gln992=)
n.2432A>G
c.209A>G
c.2652A>G (p.Gln884=)
c.549A>G (p.Gln183=)
c.2991A>G (p.Gln997=)
c.1311A>G (p.Gln437=)
Xg.108624294A>TCA413853461COL4A5c.2976A>T (p.Gln992His)
n.2432A>T
c.209A>T
c.2652A>T (p.Gln884His)
c.549A>T (p.Gln183His)
c.2991A>T (p.Gln997His)
c.1311A>T (p.Gln437His)
Xg.108624295C>ACA413853464COL4A5c.2977C>A (p.Pro993Thr)
n.2433C>A
c.210C>A
c.2653C>A (p.Pro885Thr)
c.550C>A (p.Pro184Thr)
c.2992C>A (p.Pro998Thr)
c.1312C>A (p.Pro438Thr)
Xg.108624295C>GCA413853467COL4A5c.2977C>G (p.Pro993Ala)
n.2433C>G
c.210C>G
c.2653C>G (p.Pro885Ala)
c.550C>G (p.Pro184Ala)
c.2992C>G (p.Pro998Ala)
c.1312C>G (p.Pro438Ala)
Xg.108624295C>TCA413853470COL4A5c.2977C>T (p.Pro993Ser)
n.2433C>T
c.210C>T
c.2653C>T (p.Pro885Ser)
c.550C>T (p.Pro184Ser)
c.2992C>T (p.Pro998Ser)
c.1312C>T (p.Pro438Ser)

Number of alleles fetched