Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108665461G>ACA2694441266COL4A5c.3374-46G>A (n.3374-46G>A)
c.3050-46G>A (n.3050-46G>A)
c.947-46G>A (n.947-46G>A)
c.3389-46G>A (n.3389-46G>A)
c.1709-46G>A (n.1709-46G>A)
 gnomAD v4
Xg.108665461G>TCA2694441267COL4A5c.3374-46G>T (n.3374-46G>T)
c.3050-46G>T (n.3050-46G>T)
c.947-46G>T (n.947-46G>T)
c.3389-46G>T (n.3389-46G>T)
c.1709-46G>T (n.1709-46G>T)
 gnomAD v4
Xg.108665462C>ACA2694441268COL4A5c.3374-45C>A (n.3374-45C>A)
c.3050-45C>A (n.3050-45C>A)
c.947-45C>A (n.947-45C>A)
c.3389-45C>A (n.3389-45C>A)
c.1709-45C>A (n.1709-45C>A)
 gnomAD v4
Xg.108665463A>CCA2694441269COL4A5c.3374-44A>C (n.3374-44A>C)
c.3050-44A>C (n.3050-44A>C)
c.947-44A>C (n.947-44A>C)
c.3389-44A>C (n.3389-44A>C)
c.1709-44A>C (n.1709-44A>C)
 gnomAD v4
Xg.108665463A>GCA2694441270COL4A5c.3374-44A>G (n.3374-44A>G)
c.3050-44A>G (n.3050-44A>G)
c.947-44A>G (n.947-44A>G)
c.3389-44A>G (n.3389-44A>G)
c.1709-44A>G (n.1709-44A>G)
 gnomAD v4
Xg.108665464A=CA2450711958COL4A5c.3374-43A= (n.3374-43A=)
c.3050-43A= (n.3050-43A=)
c.947-43A= (n.947-43A=)
c.3389-43A= (n.3389-43A=)
c.1709-43A= (n.1709-43A=)
Xg.108665464A>CCA2694441271COL4A5c.3374-43A>C (n.3374-43A>C)
c.3050-43A>C (n.3050-43A>C)
c.947-43A>C (n.947-43A>C)
c.3389-43A>C (n.3389-43A>C)
c.1709-43A>C (n.1709-43A>C)
 gnomAD v4
Xg.108665464A>GCA10489101COL4A5c.3374-43A>G (n.3374-43A>G)
c.3050-43A>G (n.3050-43A>G)
c.947-43A>G (n.947-43A>G)
c.3389-43A>G (n.3389-43A>G)
c.1709-43A>G (n.1709-43A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108665465T>CCA869811599COL4A5c.3374-42T>C (n.3374-42T>C)
c.3050-42T>C (n.3050-42T>C)
c.947-42T>C (n.947-42T>C)
c.3389-42T>C (n.3389-42T>C)
c.1709-42T>C (n.1709-42T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108665465T>GCA643636618COL4A5c.3374-42T>G (n.3374-42T>G)
c.3050-42T>G (n.3050-42T>G)
c.947-42T>G (n.947-42T>G)
c.3389-42T>G (n.3389-42T>G)
c.1709-42T>G (n.1709-42T>G)
 dbSNP gnomAD v2
Xg.108665465T=CA2450711959COL4A5c.3374-42T= (n.3374-42T=)
c.3050-42T= (n.3050-42T=)
c.947-42T= (n.947-42T=)
c.3389-42T= (n.3389-42T=)
c.1709-42T= (n.1709-42T=)
Xg.108665466G>ACA2694441272COL4A5c.3374-41G>A (n.3374-41G>A)
c.3050-41G>A (n.3050-41G>A)
c.947-41G>A (n.947-41G>A)
c.3389-41G>A (n.3389-41G>A)
c.1709-41G>A (n.1709-41G>A)
 gnomAD v4
Xg.108665467C>TCA2579676748COL4A5c.3374-40C>T (n.3374-40C>T)
c.3050-40C>T (n.3050-40C>T)
c.947-40C>T (n.947-40C>T)
c.3389-40C>T (n.3389-40C>T)
c.1709-40C>T (n.1709-40C>T)
Xg.108665469G>ACA2822901891COL4A5c.3374-38G>A (n.3374-38G>A)
c.3050-38G>A (n.3050-38G>A)
c.947-38G>A (n.947-38G>A)
c.3389-38G>A (n.3389-38G>A)
c.1709-38G>A (n.1709-38G>A)
Xg.108665469G=CA2450711960COL4A5c.3374-38G= (n.3374-38G=)
c.3050-38G= (n.3050-38G=)
c.947-38G= (n.947-38G=)
c.3389-38G= (n.3389-38G=)
c.1709-38G= (n.1709-38G=)
Xg.108665469G>TCA1136188681COL4A5c.3374-38G>T (n.3374-38G>T)
c.3050-38G>T (n.3050-38G>T)
c.947-38G>T (n.947-38G>T)
c.3389-38G>T (n.3389-38G>T)
c.1709-38G>T (n.1709-38G>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108665470T>CCA2694441274COL4A5c.3374-37T>C (n.3374-37T>C)
c.3050-37T>C (n.3050-37T>C)
c.947-37T>C (n.947-37T>C)
c.3389-37T>C (n.3389-37T>C)
c.1709-37T>C (n.1709-37T>C)
 gnomAD v4
Xg.108665474delCA2694441273COL4A5c.3374-33del (n.3374-33del)
c.3050-33del (n.3050-33del)
c.947-33del (n.947-33del)
c.3389-33del (n.3389-33del)
c.1709-33del (n.1709-33del)
 gnomAD v4
Xg.108665473T>ACA2694441275COL4A5c.3374-34T>A (n.3374-34T>A)
c.3050-34T>A (n.3050-34T>A)
c.947-34T>A (n.947-34T>A)
c.3389-34T>A (n.3389-34T>A)
c.1709-34T>A (n.1709-34T>A)
 gnomAD v4
Xg.108665475C>ACA10489102COL4A5c.3374-32C>A (n.3374-32C>A)
c.3050-32C>A (n.3050-32C>A)
c.947-32C>A (n.947-32C>A)
c.3389-32C>A (n.3389-32C>A)
c.1709-32C>A (n.1709-32C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108665475C=CA2450711961COL4A5c.3374-32C= (n.3374-32C=)
c.3050-32C= (n.3050-32C=)
c.947-32C= (n.947-32C=)
c.3389-32C= (n.3389-32C=)
c.1709-32C= (n.1709-32C=)
Xg.108665476T>CCA2694441276COL4A5c.3374-31T>C (n.3374-31T>C)
c.3050-31T>C (n.3050-31T>C)
c.947-31T>C (n.947-31T>C)
c.3389-31T>C (n.3389-31T>C)
c.1709-31T>C (n.1709-31T>C)
 gnomAD v4
Xg.108665476T>GCA1136188688COL4A5c.3374-31T>G (n.3374-31T>G)
c.3050-31T>G (n.3050-31T>G)
c.947-31T>G (n.947-31T>G)
c.3389-31T>G (n.3389-31T>G)
c.1709-31T>G (n.1709-31T>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108665476T=CA2450711962COL4A5c.3374-31T= (n.3374-31T=)
c.3050-31T= (n.3050-31T=)
c.947-31T= (n.947-31T=)
c.3389-31T= (n.3389-31T=)
c.1709-31T= (n.1709-31T=)
Xg.108665477T>CCA2694441277COL4A5c.3374-30T>C (n.3374-30T>C)
c.3050-30T>C (n.3050-30T>C)
c.947-30T>C (n.947-30T>C)
c.3389-30T>C (n.3389-30T>C)
c.1709-30T>C (n.1709-30T>C)
 gnomAD v4
Xg.108665479C>ACA2579676752COL4A5c.3374-28C>A (n.3374-28C>A)
c.3050-28C>A (n.3050-28C>A)
c.947-28C>A (n.947-28C>A)
c.3389-28C>A (n.3389-28C>A)
c.1709-28C>A (n.1709-28C>A)
 gnomAD v4
Xg.108665479C>TCA2579676753COL4A5c.3374-28C>T (n.3374-28C>T)
c.3050-28C>T (n.3050-28C>T)
c.947-28C>T (n.947-28C>T)
c.3389-28C>T (n.3389-28C>T)
c.1709-28C>T (n.1709-28C>T)
 gnomAD v4
Xg.108665480A>CCA2694441278COL4A5c.3374-27A>C (n.3374-27A>C)
c.3050-27A>C (n.3050-27A>C)
c.947-27A>C (n.947-27A>C)
c.3389-27A>C (n.3389-27A>C)
c.1709-27A>C (n.1709-27A>C)
 gnomAD v4
Xg.108665485delCA2579676755COL4A5c.3374-22del (n.3374-22del)
c.3050-22del (n.3050-22del)
c.947-22del (n.947-22del)
c.3389-22del (n.3389-22del)
c.1709-22del (n.1709-22del)
Xg.108665486A>TCA2694441279COL4A5c.3374-21A>T (n.3374-21A>T)
c.3050-21A>T (n.3050-21A>T)
c.947-21A>T (n.947-21A>T)
c.3389-21A>T (n.3389-21A>T)
c.1709-21A>T (n.1709-21A>T)
 gnomAD v4
Xg.108665487A>GCA2694441280COL4A5c.3374-20A>G (n.3374-20A>G)
c.3050-20A>G (n.3050-20A>G)
c.947-20A>G (n.947-20A>G)
c.3389-20A>G (n.3389-20A>G)
c.1709-20A>G (n.1709-20A>G)
 gnomAD v4
Xg.108665488A=CA2450711963COL4A5c.3374-19A= (n.3374-19A=)
c.3050-19A= (n.3050-19A=)
c.947-19A= (n.947-19A=)
c.3389-19A= (n.3389-19A=)
c.1709-19A= (n.1709-19A=)
Xg.108665488A>GCA643636619COL4A5c.3374-19A>G (n.3374-19A>G)
c.3050-19A>G (n.3050-19A>G)
c.947-19A>G (n.947-19A>G)
c.3389-19A>G (n.3389-19A>G)
c.1709-19A>G (n.1709-19A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.108665488A>TCA2450711964COL4A5c.3374-19A>T (n.3374-19A>T)
c.3050-19A>T (n.3050-19A>T)
c.947-19A>T (n.947-19A>T)
c.3389-19A>T (n.3389-19A>T)
c.1709-19A>T (n.1709-19A>T)
 dbSNP
Xg.108665490T>GCA2579676757COL4A5c.3374-17T>G (n.3374-17T>G)
c.3050-17T>G (n.3050-17T>G)
c.947-17T>G (n.947-17T>G)
c.3389-17T>G (n.3389-17T>G)
c.1709-17T>G (n.1709-17T>G)
 gnomAD v4
Xg.108665491delCA2694441281COL4A5c.3374-16del (n.3374-16del)
c.3050-16del (n.3050-16del)
c.947-16del (n.947-16del)
c.3389-16del (n.3389-16del)
c.1709-16del (n.1709-16del)
 gnomAD v4
Xg.108665491G>ACA2694441282COL4A5c.3374-16G>A (n.3374-16G>A)
c.3050-16G>A (n.3050-16G>A)
c.947-16G>A (n.947-16G>A)
c.3389-16G>A (n.3389-16G>A)
c.1709-16G>A (n.1709-16G>A)
 gnomAD v4
Xg.108665491G>TCA2694441283COL4A5c.3374-16G>T (n.3374-16G>T)
c.3050-16G>T (n.3050-16G>T)
c.947-16G>T (n.947-16G>T)
c.3389-16G>T (n.3389-16G>T)
c.1709-16G>T (n.1709-16G>T)
 gnomAD v4
Xg.108665492A>GCA2694441284COL4A5c.3374-15A>G (n.3374-15A>G)
c.3050-15A>G (n.3050-15A>G)
c.947-15A>G (n.947-15A>G)
c.3389-15A>G (n.3389-15A>G)
c.1709-15A>G (n.1709-15A>G)
 gnomAD v4
Xg.108665494C>ACA2694441285COL4A5c.3374-13C>A (n.3374-13C>A)
c.3050-13C>A (n.3050-13C>A)
c.947-13C>A (n.947-13C>A)
c.3389-13C>A (n.3389-13C>A)
c.1709-13C>A (n.1709-13C>A)
 gnomAD v4
Xg.108665494C>TCA2694441286COL4A5c.3374-13C>T (n.3374-13C>T)
c.3050-13C>T (n.3050-13C>T)
c.947-13C>T (n.947-13C>T)
c.3389-13C>T (n.3389-13C>T)
c.1709-13C>T (n.1709-13C>T)
 gnomAD v4
Xg.108665496C>ACA258863COL4A5c.3374-11C>A (n.3374-11C>A)
c.3050-11C>A (n.3050-11C>A)
c.947-11C>A (n.947-11C>A)
c.3389-11C>A (n.3389-11C>A)
c.1709-11C>A (n.1709-11C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108665496C=CA2450711965COL4A5c.3374-11C= (n.3374-11C=)
c.3050-11C= (n.3050-11C=)
c.947-11C= (n.947-11C=)
c.3389-11C= (n.3389-11C=)
c.1709-11C= (n.1709-11C=)
Xg.108665496C>GCA869811612COL4A5c.3374-11C>G (n.3374-11C>G)
c.3050-11C>G (n.3050-11C>G)
c.947-11C>G (n.947-11C>G)
c.3389-11C>G (n.3389-11C>G)
c.1709-11C>G (n.1709-11C>G)
 dbSNP
Xg.108665496_108665497delinsCTCA2450711966COL4A5c.3374-11_3374-10delinsCT (n.3374-11_3374-10delinsCT)
c.3050-11_3050-10delinsCT (n.3050-11_3050-10delinsCT)
c.947-11_947-10delinsCT (n.947-11_947-10delinsCT)
c.3389-11_3389-10delinsCT (n.3389-11_3389-10delinsCT)
c.1709-11_1709-10delinsCT (n.1709-11_1709-10delinsCT)
Xg.108665497T>CCA2694441287COL4A5c.3374-10T>C (n.3374-10T>C)
c.3050-10T>C (n.3050-10T>C)
c.947-10T>C (n.947-10T>C)
c.3389-10T>C (n.3389-10T>C)
c.1709-10T>C (n.1709-10T>C)
 gnomAD v4
Xg.108665499delCA2450711967COL4A5c.3374-8del (n.3374-8del)
c.3050-8del (n.3050-8del)
c.947-8del (n.947-8del)
c.3389-8del (n.3389-8del)
c.1709-8del (n.1709-8del)
 dbSNP
Xg.108665498T>ACA2579676760COL4A5c.3374-9T>A (n.3374-9T>A)
c.3050-9T>A (n.3050-9T>A)
c.947-9T>A (n.947-9T>A)
c.3389-9T>A (n.3389-9T>A)
c.1709-9T>A (n.1709-9T>A)
Xg.108665499T>ACA2694441288COL4A5c.3374-8T>A (n.3374-8T>A)
c.3050-8T>A (n.3050-8T>A)
c.947-8T>A (n.947-8T>A)
c.3389-8T>A (n.3389-8T>A)
c.1709-8T>A (n.1709-8T>A)
 gnomAD v4
Xg.108665500A>GCA2694441289COL4A5c.3374-7A>G (n.3374-7A>G)
c.3050-7A>G (n.3050-7A>G)
c.947-7A>G (n.947-7A>G)
c.3389-7A>G (n.3389-7A>G)
c.1709-7A>G (n.1709-7A>G)
 gnomAD v4
Xg.108665502T>CCA869811619COL4A5c.3374-5T>C (n.3374-5T>C)
c.3050-5T>C (n.3050-5T>C)
c.947-5T>C (n.947-5T>C)
c.3389-5T>C (n.3389-5T>C)
c.1709-5T>C (n.1709-5T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108665502T=CA2450711968COL4A5c.3374-5T= (n.3374-5T=)
c.3050-5T= (n.3050-5T=)
c.947-5T= (n.947-5T=)
c.3389-5T= (n.3389-5T=)
c.1709-5T= (n.1709-5T=)
Xg.108665503C>GCA2694441290COL4A5c.3374-4C>G (n.3374-4C>G)
c.3050-4C>G (n.3050-4C>G)
c.947-4C>G (n.947-4C>G)
c.3389-4C>G (n.3389-4C>G)
c.1709-4C>G (n.1709-4C>G)
 gnomAD v4
Xg.108665504T>ACA2450711970COL4A5c.3374-3T>A (n.3374-3T>A)
c.3050-3T>A (n.3050-3T>A)
c.947-3T>A (n.947-3T>A)
c.3389-3T>A (n.3389-3T>A)
c.1709-3T>A (n.1709-3T>A)
 dbSNP
Xg.108665504T>CCA2450711971COL4A5c.3374-3T>C (n.3374-3T>C)
c.3050-3T>C (n.3050-3T>C)
c.947-3T>C (n.947-3T>C)
c.3389-3T>C (n.3389-3T>C)
c.1709-3T>C (n.1709-3T>C)
 dbSNP gnomAD v4
Xg.108665504T=CA2450711969COL4A5c.3374-3T= (n.3374-3T=)
c.3050-3T= (n.3050-3T=)
c.947-3T= (n.947-3T=)
c.3389-3T= (n.3389-3T=)
c.1709-3T= (n.1709-3T=)
Xg.108665505delCA2579676765COL4A5c.3374-2del (n.3374-2del)
c.3050-2del (n.3050-2del)
c.947-2del (n.947-2del)
c.3389-2del (n.3389-2del)
c.1709-2del (n.1709-2del)
Xg.108665505A>CCA413847110COL4A5c.3374-2A>C (n.3374-2A>C)
c.3050-2A>C (n.3050-2A>C)
c.947-2A>C (n.947-2A>C)
c.3389-2A>C (n.3389-2A>C)
c.1709-2A>C (n.1709-2A>C)
Xg.108665505A>GCA413847113COL4A5c.3374-2A>G (n.3374-2A>G)
c.3050-2A>G (n.3050-2A>G)
c.947-2A>G (n.947-2A>G)
c.3389-2A>G (n.3389-2A>G)
c.1709-2A>G (n.1709-2A>G)
 gnomAD v4
Xg.108665505A>TCA413847114COL4A5c.3374-2A>T (n.3374-2A>T)
c.3050-2A>T (n.3050-2A>T)
c.947-2A>T (n.947-2A>T)
c.3389-2A>T (n.3389-2A>T)
c.1709-2A>T (n.1709-2A>T)
Xg.108665506G>ACA413847117COL4A5c.3374-1G>A (n.3374-1G>A)
c.3050-1G>A (n.3050-1G>A)
c.947-1G>A (n.947-1G>A)
c.3389-1G>A (n.3389-1G>A)
c.1709-1G>A (n.1709-1G>A)
 ClinVar dbSNP
Xg.108665506G>CCA413847116COL4A5c.3374-1G>C (n.3374-1G>C)
c.3050-1G>C (n.3050-1G>C)
c.947-1G>C (n.947-1G>C)
c.3389-1G>C (n.3389-1G>C)
c.1709-1G>C (n.1709-1G>C)
Xg.108665506G=CA2450711972COL4A5c.3374-1G= (n.3374-1G=)
c.3050-1G= (n.3050-1G=)
c.947-1G= (n.947-1G=)
c.3389-1G= (n.3389-1G=)
c.1709-1G= (n.1709-1G=)
Xg.108665506G>TCA413847115COL4A5c.3374-1G>T (n.3374-1G>T)
c.3050-1G>T (n.3050-1G>T)
c.947-1G>T (n.947-1G>T)
c.3389-1G>T (n.3389-1G>T)
c.1709-1G>T (n.1709-1G>T)
Xg.108665507G>ACA413847118COL4A5c.3374G>A (p.Gly1125Glu)
c.3050G>A (p.Gly1017Glu)
c.947G>A (p.Gly316Glu)
c.3389G>A (p.Gly1130Glu)
c.1709G>A (p.Gly570Glu)
Xg.108665507G>CCA413847119COL4A5c.3374G>C (p.Gly1125Ala)
c.3050G>C (p.Gly1017Ala)
c.947G>C (p.Gly316Ala)
c.3389G>C (p.Gly1130Ala)
c.1709G>C (p.Gly570Ala)
Xg.108665507G>TCA413847120COL4A5c.3374G>T (p.Gly1125Val)
c.3050G>T (p.Gly1017Val)
c.947G>T (p.Gly316Val)
c.3389G>T (p.Gly1130Val)
c.1709G>T (p.Gly570Val)
Xg.108665508A>CCA517922201COL4A5c.3375A>C (p.Gly1125=)
c.3051A>C (p.Gly1017=)
c.948A>C (p.Gly316=)
c.3390A>C (p.Gly1130=)
c.1710A>C (p.Gly570=)
Xg.108665508A>GCA517922202COL4A5c.3375A>G (p.Gly1125=)
c.3051A>G (p.Gly1017=)
c.948A>G (p.Gly316=)
c.3390A>G (p.Gly1130=)
c.1710A>G (p.Gly570=)
Xg.108665508A>TCA517922203COL4A5c.3375A>T (p.Gly1125=)
c.3051A>T (p.Gly1017=)
c.948A>T (p.Gly316=)
c.3390A>T (p.Gly1130=)
c.1710A>T (p.Gly570=)
Xg.108665509A=CA2450711973COL4A5c.3376A= (p.Thr1126=)
c.3052A= (p.Thr1018=)
c.949A= (p.Thr317=)
c.3391A= (p.Thr1131=)
c.1711A= (p.Thr571=)
Xg.108665509A>CCA413847121COL4A5c.3376A>C (p.Thr1126Pro)
c.3052A>C (p.Thr1018Pro)
c.949A>C (p.Thr317Pro)
c.3391A>C (p.Thr1131Pro)
c.1711A>C (p.Thr571Pro)
Xg.108665509A>GCA10489103COL4A5c.3376A>G (p.Thr1126Ala)
c.3052A>G (p.Thr1018Ala)
c.949A>G (p.Thr317Ala)
c.3391A>G (p.Thr1131Ala)
c.1711A>G (p.Thr571Ala)
 dbSNP ExAC gnomAD v2
Xg.108665509A>TCA413847122COL4A5c.3376A>T (p.Thr1126Ser)
c.3052A>T (p.Thr1018Ser)
c.949A>T (p.Thr317Ser)
c.3391A>T (p.Thr1131Ser)
c.1711A>T (p.Thr571Ser)
Xg.108665510C>ACA413847123COL4A5c.3377C>A (p.Thr1126Asn)
c.3053C>A (p.Thr1018Asn)
c.950C>A (p.Thr317Asn)
c.3392C>A (p.Thr1131Asn)
c.1712C>A (p.Thr571Asn)
 gnomAD v4
Xg.108665510C>GCA413847125COL4A5c.3377C>G (p.Thr1126Ser)
c.3053C>G (p.Thr1018Ser)
c.950C>G (p.Thr317Ser)
c.3392C>G (p.Thr1131Ser)
c.1712C>G (p.Thr571Ser)
Xg.108665510C>TCA413847124COL4A5c.3377C>T (p.Thr1126Ile)
c.3053C>T (p.Thr1018Ile)
c.950C>T (p.Thr317Ile)
c.3392C>T (p.Thr1131Ile)
c.1712C>T (p.Thr571Ile)
Xg.108665513delCA2694441291COL4A5c.3380del (p.Pro1127GlnfsTer25)
c.3056del (p.Pro1019GlnfsTer25)
c.953del (p.Pro318GlnfsTer25)
c.3395del (p.Pro1132GlnfsTer25)
c.1715del (p.Pro572GlnfsTer25)
 gnomAD v4
Xg.108665511C>ACA517922207COL4A5c.3378C>A (p.Thr1126=)
c.3054C>A (p.Thr1018=)
c.951C>A (p.Thr317=)
c.3393C>A (p.Thr1131=)
c.1713C>A (p.Thr571=)
Xg.108665511C=CA2450711974COL4A5c.3378C= (p.Thr1126=)
c.3054C= (p.Thr1018=)
c.951C= (p.Thr317=)
c.3393C= (p.Thr1131=)
c.1713C= (p.Thr571=)
Xg.108665511C>GCA517922208COL4A5c.3378C>G (p.Thr1126=)
c.3054C>G (p.Thr1018=)
c.951C>G (p.Thr317=)
c.3393C>G (p.Thr1131=)
c.1713C>G (p.Thr571=)
Xg.108665511C>TCA517922209COL4A5c.3378C>T (p.Thr1126=)
c.3054C>T (p.Thr1018=)
c.951C>T (p.Thr317=)
c.3393C>T (p.Thr1131=)
c.1713C>T (p.Thr571=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108665512C>ACA413847126COL4A5c.3379C>A (p.Pro1127Thr)
c.3055C>A (p.Pro1019Thr)
c.952C>A (p.Pro318Thr)
c.3394C>A (p.Pro1132Thr)
c.1714C>A (p.Pro572Thr)
 gnomAD v4
Xg.108665512C>GCA413847127COL4A5c.3379C>G (p.Pro1127Ala)
c.3055C>G (p.Pro1019Ala)
c.952C>G (p.Pro318Ala)
c.3394C>G (p.Pro1132Ala)
c.1714C>G (p.Pro572Ala)
Xg.108665512C>TCA413847128COL4A5c.3379C>T (p.Pro1127Ser)
c.3055C>T (p.Pro1019Ser)
c.952C>T (p.Pro318Ser)
c.3394C>T (p.Pro1132Ser)
c.1714C>T (p.Pro572Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.108665513C>ACA413847129COL4A5c.3380C>A (p.Pro1127Gln)
c.3056C>A (p.Pro1019Gln)
c.953C>A (p.Pro318Gln)
c.3395C>A (p.Pro1132Gln)
c.1715C>A (p.Pro572Gln)
 gnomAD v4
Xg.108665513C>GCA413847130COL4A5c.3380C>G (p.Pro1127Arg)
c.3056C>G (p.Pro1019Arg)
c.953C>G (p.Pro318Arg)
c.3395C>G (p.Pro1132Arg)
c.1715C>G (p.Pro572Arg)
Xg.108665513C>TCA413847131COL4A5c.3380C>T (p.Pro1127Leu)
c.3056C>T (p.Pro1019Leu)
c.953C>T (p.Pro318Leu)
c.3395C>T (p.Pro1132Leu)
c.1715C>T (p.Pro572Leu)
 gnomAD v4
Xg.108665514A>CCA517922213COL4A5c.3381A>C (p.Pro1127=)
c.3057A>C (p.Pro1019=)
c.954A>C (p.Pro318=)
c.3396A>C (p.Pro1132=)
c.1716A>C (p.Pro572=)
 gnomAD v4
Xg.108665514A>GCA517922214COL4A5c.3381A>G (p.Pro1127=)
c.3057A>G (p.Pro1019=)
c.954A>G (p.Pro318=)
c.3396A>G (p.Pro1132=)
c.1716A>G (p.Pro572=)
 ClinVar
Xg.108665514A>TCA517922215COL4A5c.3381A>T (p.Pro1127=)
c.3057A>T (p.Pro1019=)
c.954A>T (p.Pro318=)
c.3396A>T (p.Pro1132=)
c.1716A>T (p.Pro572=)
Xg.108665515G>ACA413847132COL4A5c.3382G>A (p.Gly1128Ser)
c.3058G>A (p.Gly1020Ser)
c.955G>A (p.Gly319Ser)
c.3397G>A (p.Gly1133Ser)
c.1717G>A (p.Gly573Ser)
Xg.108665515G>CCA413847133COL4A5c.3382G>C (p.Gly1128Arg)
c.3058G>C (p.Gly1020Arg)
c.955G>C (p.Gly319Arg)
c.3397G>C (p.Gly1133Arg)
c.1717G>C (p.Gly573Arg)
Xg.108665515G>TCA413847134COL4A5c.3382G>T (p.Gly1128Cys)
c.3058G>T (p.Gly1020Cys)
c.955G>T (p.Gly319Cys)
c.3397G>T (p.Gly1133Cys)
c.1717G>T (p.Gly573Cys)
 gnomAD v4
Xg.108665526_108665552delCA2580100180COL4A5c.3393_3419del (p.Pro1132_Gly1140del)
c.3069_3095del (p.Pro1024_Gly1032del)
c.966_992del (p.Pro323_Gly331del)
c.3408_3434del (p.Pro1137_Gly1145del)
c.1728_1754del (p.Pro577_Gly585del)
 ClinVar
Xg.108665516G>ACA413847135COL4A5c.3383G>A (p.Gly1128Asp)
c.3059G>A (p.Gly1020Asp)
c.956G>A (p.Gly319Asp)
c.3398G>A (p.Gly1133Asp)
c.1718G>A (p.Gly573Asp)
Xg.108665516G>CCA413847136COL4A5c.3383G>C (p.Gly1128Ala)
c.3059G>C (p.Gly1020Ala)
c.956G>C (p.Gly319Ala)
c.3398G>C (p.Gly1133Ala)
c.1718G>C (p.Gly573Ala)
Xg.108665516G>TCA413847137COL4A5c.3383G>T (p.Gly1128Val)
c.3059G>T (p.Gly1020Val)
c.956G>T (p.Gly319Val)
c.3398G>T (p.Gly1133Val)
c.1718G>T (p.Gly573Val)
Xg.108665517C>ACA10489104COL4A5c.3384C>A (p.Gly1128=)
c.3060C>A (p.Gly1020=)
c.957C>A (p.Gly319=)
c.3399C>A (p.Gly1133=)
c.1719C>A (p.Gly573=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108665517C=CA2450711975COL4A5c.3384C= (p.Gly1128=)
c.3060C= (p.Gly1020=)
c.957C= (p.Gly319=)
c.3399C= (p.Gly1133=)
c.1719C= (p.Gly573=)
Xg.108665517C>GCA517922218COL4A5c.3384C>G (p.Gly1128=)
c.3060C>G (p.Gly1020=)
c.957C>G (p.Gly319=)
c.3399C>G (p.Gly1133=)
c.1719C>G (p.Gly573=)
Xg.108665517C>TCA517922219COL4A5c.3384C>T (p.Gly1128=)
c.3060C>T (p.Gly1020=)
c.957C>T (p.Gly319=)
c.3399C>T (p.Gly1133=)
c.1719C>T (p.Gly573=)
 ClinVar gnomAD v4
Xg.108665518C>ACA413847140COL4A5c.3385C>A (p.Pro1129Thr)
c.3061C>A (p.Pro1021Thr)
c.958C>A (p.Pro320Thr)
c.3400C>A (p.Pro1134Thr)
c.1720C>A (p.Pro574Thr)
Xg.108665518C=CA2450711976COL4A5c.3385C= (p.Pro1129=)
c.3061C= (p.Pro1021=)
c.958C= (p.Pro320=)
c.3400C= (p.Pro1134=)
c.1720C= (p.Pro574=)
Xg.108665518C>GCA413847138COL4A5c.3385C>G (p.Pro1129Ala)
c.3061C>G (p.Pro1021Ala)
c.958C>G (p.Pro320Ala)
c.3400C>G (p.Pro1134Ala)
c.1720C>G (p.Pro574Ala)
Xg.108665518C>TCA413847139COL4A5c.3385C>T (p.Pro1129Ser)
c.3061C>T (p.Pro1021Ser)
c.958C>T (p.Pro320Ser)
c.3400C>T (p.Pro1134Ser)
c.1720C>T (p.Pro574Ser)
 dbSNP gnomAD v4
Xg.108665519C>ACA413847141COL4A5c.3386C>A (p.Pro1129His)
c.3062C>A (p.Pro1021His)
c.959C>A (p.Pro320His)
c.3401C>A (p.Pro1134His)
c.1721C>A (p.Pro574His)
Xg.108665519C=CA2450711977COL4A5c.3386C= (p.Pro1129=)
c.3062C= (p.Pro1021=)
c.959C= (p.Pro320=)
c.3401C= (p.Pro1134=)
c.1721C= (p.Pro574=)
Xg.108665519C>GCA413847142COL4A5c.3386C>G (p.Pro1129Arg)
c.3062C>G (p.Pro1021Arg)
c.959C>G (p.Pro320Arg)
c.3401C>G (p.Pro1134Arg)
c.1721C>G (p.Pro574Arg)
Xg.108665519C>TCA334044907COL4A5c.3386C>T (p.Pro1129Leu)
c.3062C>T (p.Pro1021Leu)
c.959C>T (p.Pro320Leu)
c.3401C>T (p.Pro1134Leu)
c.1721C>T (p.Pro574Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108665520T>ACA517922221COL4A5c.3387T>A (p.Pro1129=)
c.3063T>A (p.Pro1021=)
c.960T>A (p.Pro320=)
c.3402T>A (p.Pro1134=)
c.1722T>A (p.Pro574=)
Xg.108665520T>CCA517922222COL4A5c.3387T>C (p.Pro1129=)
c.3063T>C (p.Pro1021=)
c.960T>C (p.Pro320=)
c.3402T>C (p.Pro1134=)
c.1722T>C (p.Pro574=)
Xg.108665520T>GCA517922223COL4A5c.3387T>G (p.Pro1129=)
c.3063T>G (p.Pro1021=)
c.960T>G (p.Pro320=)
c.3402T>G (p.Pro1134=)
c.1722T>G (p.Pro574=)
Xg.108665521C>ACA413847145COL4A5c.3388C>A (p.Pro1130Thr)
c.3064C>A (p.Pro1022Thr)
c.961C>A (p.Pro321Thr)
c.3403C>A (p.Pro1135Thr)
c.1723C>A (p.Pro575Thr)
Xg.108665521C>GCA413847144COL4A5c.3388C>G (p.Pro1130Ala)
c.3064C>G (p.Pro1022Ala)
c.961C>G (p.Pro321Ala)
c.3403C>G (p.Pro1135Ala)
c.1723C>G (p.Pro575Ala)
Xg.108665521C>TCA413847143COL4A5c.3388C>T (p.Pro1130Ser)
c.3064C>T (p.Pro1022Ser)
c.961C>T (p.Pro321Ser)
c.3403C>T (p.Pro1135Ser)
c.1723C>T (p.Pro575Ser)
Xg.108665522C>ACA413847146COL4A5c.3389C>A (p.Pro1130His)
c.3065C>A (p.Pro1022His)
c.962C>A (p.Pro321His)
c.3404C>A (p.Pro1135His)
c.1724C>A (p.Pro575His)
 COSMIC COSMIC
Xg.108665522C>GCA413847147COL4A5c.3389C>G (p.Pro1130Arg)
c.3065C>G (p.Pro1022Arg)
c.962C>G (p.Pro321Arg)
c.3404C>G (p.Pro1135Arg)
c.1724C>G (p.Pro575Arg)
Xg.108665522C>TCA413847148COL4A5c.3389C>T (p.Pro1130Leu)
c.3065C>T (p.Pro1022Leu)
c.962C>T (p.Pro321Leu)
c.3404C>T (p.Pro1135Leu)
c.1724C>T (p.Pro575Leu)
Xg.108665523T>ACA517922227COL4A5c.3390T>A (p.Pro1130=)
c.3066T>A (p.Pro1022=)
c.963T>A (p.Pro321=)
c.3405T>A (p.Pro1135=)
c.1725T>A (p.Pro575=)
 gnomAD v4
Xg.108665523T>CCA517922228COL4A5c.3390T>C (p.Pro1130=)
c.3066T>C (p.Pro1022=)
c.963T>C (p.Pro321=)
c.3405T>C (p.Pro1135=)
c.1725T>C (p.Pro575=)
 ClinVar dbSNP
Xg.108665523T>GCA517922229COL4A5c.3390T>G (p.Pro1130=)
c.3066T>G (p.Pro1022=)
c.963T>G (p.Pro321=)
c.3405T>G (p.Pro1135=)
c.1725T>G (p.Pro575=)
Xg.108665524G>ACA413847149COL4A5c.3391G>A (p.Gly1131Arg)
c.3067G>A (p.Gly1023Arg)
c.964G>A (p.Gly322Arg)
c.3406G>A (p.Gly1136Arg)
c.1726G>A (p.Gly576Arg)
Xg.108665524G>CCA413847150COL4A5c.3391G>C (p.Gly1131Arg)
c.3067G>C (p.Gly1023Arg)
c.964G>C (p.Gly322Arg)
c.3406G>C (p.Gly1136Arg)
c.1726G>C (p.Gly576Arg)
Xg.108665524G>TCA413847151COL4A5c.3391G>T (p.Gly1131Ter)
c.3067G>T (p.Gly1023Ter)
c.964G>T (p.Gly322Ter)
c.3406G>T (p.Gly1136Ter)
c.1726G>T (p.Gly576Ter)
Xg.108665525delCA2579676774COL4A5c.3392del (p.Gly1131AspfsTer21)
c.3068del (p.Gly1023AspfsTer21)
c.965del (p.Gly322AspfsTer21)
c.3407del (p.Gly1136AspfsTer21)
c.1727del (p.Gly576AspfsTer21)
Xg.108665525G>ACA413847153COL4A5c.3392G>A (p.Gly1131Glu)
c.3068G>A (p.Gly1023Glu)
c.965G>A (p.Gly322Glu)
c.3407G>A (p.Gly1136Glu)
c.1727G>A (p.Gly576Glu)
 gnomAD v4
Xg.108665525G>CCA413847156COL4A5c.3392G>C (p.Gly1131Ala)
c.3068G>C (p.Gly1023Ala)
c.965G>C (p.Gly322Ala)
c.3407G>C (p.Gly1136Ala)
c.1727G>C (p.Gly576Ala)
Xg.108665525G>TCA413847155COL4A5c.3392G>T (p.Gly1131Val)
c.3068G>T (p.Gly1023Val)
c.965G>T (p.Gly322Val)
c.3407G>T (p.Gly1136Val)
c.1727G>T (p.Gly576Val)
Xg.108665526A>CCA517922233COL4A5c.3393A>C (p.Gly1131=)
c.3069A>C (p.Gly1023=)
c.966A>C (p.Gly322=)
c.3408A>C (p.Gly1136=)
c.1728A>C (p.Gly576=)
Xg.108665526A>GCA517922232COL4A5c.3393A>G (p.Gly1131=)
c.3069A>G (p.Gly1023=)
c.966A>G (p.Gly322=)
c.3408A>G (p.Gly1136=)
c.1728A>G (p.Gly576=)
Xg.108665526A>TCA517922231COL4A5c.3393A>T (p.Gly1131=)
c.3069A>T (p.Gly1023=)
c.966A>T (p.Gly322=)
c.3408A>T (p.Gly1136=)
c.1728A>T (p.Gly576=)
Xg.108665527C>ACA413847157COL4A5c.3394C>A (p.Pro1132Thr)
c.3070C>A (p.Pro1024Thr)
c.967C>A (p.Pro323Thr)
c.3409C>A (p.Pro1137Thr)
c.1729C>A (p.Pro577Thr)
Xg.108665527C>GCA413847159COL4A5c.3394C>G (p.Pro1132Ala)
c.3070C>G (p.Pro1024Ala)
c.967C>G (p.Pro323Ala)
c.3409C>G (p.Pro1137Ala)
c.1729C>G (p.Pro577Ala)
Xg.108665527C>TCA413847161COL4A5c.3394C>T (p.Pro1132Ser)
c.3070C>T (p.Pro1024Ser)
c.967C>T (p.Pro323Ser)
c.3409C>T (p.Pro1137Ser)
c.1729C>T (p.Pro577Ser)
Xg.108665528delCA2694441292COL4A5c.3395del (p.Pro1132GlnfsTer20)
c.3071del (p.Pro1024GlnfsTer20)
c.968del (p.Pro323GlnfsTer20)
c.3410del (p.Pro1137GlnfsTer20)
c.1730del (p.Pro577GlnfsTer20)
 gnomAD v4
Xg.108665528C>ACA413847163COL4A5c.3395C>A (p.Pro1132Gln)
c.3071C>A (p.Pro1024Gln)
c.968C>A (p.Pro323Gln)
c.3410C>A (p.Pro1137Gln)
c.1730C>A (p.Pro577Gln)
Xg.108665528C>GCA413847164COL4A5c.3395C>G (p.Pro1132Arg)
c.3071C>G (p.Pro1024Arg)
c.968C>G (p.Pro323Arg)
c.3410C>G (p.Pro1137Arg)
c.1730C>G (p.Pro577Arg)
Xg.108665528C>TCA413847165COL4A5c.3395C>T (p.Pro1132Leu)
c.3071C>T (p.Pro1024Leu)
c.968C>T (p.Pro323Leu)
c.3410C>T (p.Pro1137Leu)
c.1730C>T (p.Pro577Leu)
Xg.108665529A=CA2450711978COL4A5c.3396A= (p.Pro1132=)
c.3072A= (p.Pro1024=)
c.969A= (p.Pro323=)
c.3411A= (p.Pro1137=)
c.1731A= (p.Pro577=)
Xg.108665529A>CCA517922235COL4A5c.3396A>C (p.Pro1132=)
c.3072A>C (p.Pro1024=)
c.969A>C (p.Pro323=)
c.3411A>C (p.Pro1137=)
c.1731A>C (p.Pro577=)
Xg.108665529A>GCA517922237COL4A5c.3396A>G (p.Pro1132=)
c.3072A>G (p.Pro1024=)
c.969A>G (p.Pro323=)
c.3411A>G (p.Pro1137=)
c.1731A>G (p.Pro577=)
 dbSNP gnomAD v4
Xg.108665529A>TCA517922238COL4A5c.3396A>T (p.Pro1132=)
c.3072A>T (p.Pro1024=)
c.969A>T (p.Pro323=)
c.3411A>T (p.Pro1137=)
c.1731A>T (p.Pro577=)
Xg.108665532delCA2579676776COL4A5c.3399del (p.Gly1134ValfsTer18)
c.3075del (p.Gly1026ValfsTer18)
c.972del (p.Gly325ValfsTer18)
c.3414del (p.Gly1139ValfsTer18)
c.1734del (p.Gly579ValfsTer18)
 ClinVar
Xg.108665530A>CCA413847168COL4A5c.3397A>C (p.Lys1133Gln)
c.3073A>C (p.Lys1025Gln)
c.970A>C (p.Lys324Gln)
c.3412A>C (p.Lys1138Gln)
c.1732A>C (p.Lys578Gln)
Xg.108665530A>GCA413847170COL4A5c.3397A>G (p.Lys1133Glu)
c.3073A>G (p.Lys1025Glu)
c.970A>G (p.Lys324Glu)
c.3412A>G (p.Lys1138Glu)
c.1732A>G (p.Lys578Glu)
Xg.108665530A>TCA413847172COL4A5c.3397A>T (p.Lys1133Ter)
c.3073A>T (p.Lys1025Ter)
c.970A>T (p.Lys324Ter)
c.3412A>T (p.Lys1138Ter)
c.1732A>T (p.Lys578Ter)
Xg.108665531A>CCA413847175COL4A5c.3398A>C (p.Lys1133Thr)
c.3074A>C (p.Lys1025Thr)
c.971A>C (p.Lys324Thr)
c.3413A>C (p.Lys1138Thr)
c.1733A>C (p.Lys578Thr)
Xg.108665531A>GCA413847177COL4A5c.3398A>G (p.Lys1133Arg)
c.3074A>G (p.Lys1025Arg)
c.971A>G (p.Lys324Arg)
c.3413A>G (p.Lys1138Arg)
c.1733A>G (p.Lys578Arg)
Xg.108665531A>TCA413847179COL4A5c.3398A>T (p.Lys1133Ile)
c.3074A>T (p.Lys1025Ile)
c.971A>T (p.Lys324Ile)
c.3413A>T (p.Lys1138Ile)
c.1733A>T (p.Lys578Ile)
Xg.108665532A>CCA413847181COL4A5c.3399A>C (p.Lys1133Asn)
c.3075A>C (p.Lys1025Asn)
c.972A>C (p.Lys324Asn)
c.3414A>C (p.Lys1138Asn)
c.1734A>C (p.Lys578Asn)
Xg.108665532A>GCA517922239COL4A5c.3399A>G (p.Lys1133=)
c.3075A>G (p.Lys1025=)
c.972A>G (p.Lys324=)
c.3414A>G (p.Lys1138=)
c.1734A>G (p.Lys578=)
Xg.108665532A>TCA413847183COL4A5c.3399A>T (p.Lys1133Asn)
c.3075A>T (p.Lys1025Asn)
c.972A>T (p.Lys324Asn)
c.3414A>T (p.Lys1138Asn)
c.1734A>T (p.Lys578Asn)
Xg.108665533G>ACA413847186COL4A5c.3400G>A (p.Gly1134Ser)
c.3076G>A (p.Gly1026Ser)
c.973G>A (p.Gly325Ser)
c.3415G>A (p.Gly1139Ser)
c.1735G>A (p.Gly579Ser)
 ClinVar
Xg.108665533G>CCA413847190COL4A5c.3400G>C (p.Gly1134Arg)
c.3076G>C (p.Gly1026Arg)
c.973G>C (p.Gly325Arg)
c.3415G>C (p.Gly1139Arg)
c.1735G>C (p.Gly579Arg)
Xg.108665533G=CA2450711979COL4A5c.3400G= (p.Gly1134=)
c.3076G= (p.Gly1026=)
c.973G= (p.Gly325=)
c.3415G= (p.Gly1139=)
c.1735G= (p.Gly579=)
Xg.108665533G>TCA413847188COL4A5c.3400G>T (p.Gly1134Cys)
c.3076G>T (p.Gly1026Cys)
c.973G>T (p.Gly325Cys)
c.3415G>T (p.Gly1139Cys)
c.1735G>T (p.Gly579Cys)
 dbSNP gnomAD v2 gnomAD v4
Xg.108665533_108665534insATCA2568587870COL4A5c.3400_3401insAT (p.Gly1134AspfsTer19)
c.3076_3077insAT (p.Gly1026AspfsTer19)
c.973_974insAT (p.Gly325AspfsTer19)
c.3415_3416insAT (p.Gly1139AspfsTer19)
c.1735_1736insAT (p.Gly579AspfsTer19)
Xg.108665534G>ACA413847192COL4A5c.3401G>A (p.Gly1134Asp)
c.3077G>A (p.Gly1026Asp)
c.974G>A (p.Gly325Asp)
c.3416G>A (p.Gly1139Asp)
c.1736G>A (p.Gly579Asp)
 dbSNP
Xg.108665534G>CCA413847194COL4A5c.3401G>C (p.Gly1134Ala)
c.3077G>C (p.Gly1026Ala)
c.974G>C (p.Gly325Ala)
c.3416G>C (p.Gly1139Ala)
c.1736G>C (p.Gly579Ala)
 gnomAD v4
Xg.108665534G=CA2450711980COL4A5c.3401G= (p.Gly1134=)
c.3077G= (p.Gly1026=)
c.974G= (p.Gly325=)
c.3416G= (p.Gly1139=)
c.1736G= (p.Gly579=)
Xg.108665534G>TCA413847196COL4A5c.3401G>T (p.Gly1134Val)
c.3077G>T (p.Gly1026Val)
c.974G>T (p.Gly325Val)
c.3416G>T (p.Gly1139Val)
c.1736G>T (p.Gly579Val)
 gnomAD v4
Xg.108665534_108665535insCTGGTGTTTGTTGGCCA2552270300COL4A5c.3401_3402insCTGGTGTTTGTTGGC (p.Gly1134_Ile1135insTrpCysLeuLeuAla)
c.3077_3078insCTGGTGTTTGTTGGC (p.Gly1026_Ile1027insTrpCysLeuLeuAla)
c.974_975insCTGGTGTTTGTTGGC (p.Gly325_Ile326insTrpCysLeuLeuAla)
c.3416_3417insCTGGTGTTTGTTGGC (p.Gly1139_Ile1140insTrpCysLeuLeuAla)
c.1736_1737insCTGGTGTTTGTTGGC (p.Gly579_Ile580insTrpCysLeuLeuAla)
Xg.108665535T>ACA517922240COL4A5c.3402T>A (p.Gly1134=)
c.3078T>A (p.Gly1026=)
c.975T>A (p.Gly325=)
c.3417T>A (p.Gly1139=)
c.1737T>A (p.Gly579=)
Xg.108665535T>CCA517922241COL4A5c.3402T>C (p.Gly1134=)
c.3078T>C (p.Gly1026=)
c.975T>C (p.Gly325=)
c.3417T>C (p.Gly1139=)
c.1737T>C (p.Gly579=)
Xg.108665535T>GCA517922242COL4A5c.3402T>G (p.Gly1134=)
c.3078T>G (p.Gly1026=)
c.975T>G (p.Gly325=)
c.3417T>G (p.Gly1139=)
c.1737T>G (p.Gly579=)
Xg.108665535_108665551delinsTATTAGTGGCCCTCCTGCA2450711981COL4A5c.3402_3418delinsTATTAGTGGCCCTCCTG (p.Gly1134=)
c.3078_3094delinsTATTAGTGGCCCTCCTG (p.Gly1026=)
c.975_991delinsTATTAGTGGCCCTCCTG (p.Gly325=)
c.3417_3433delinsTATTAGTGGCCCTCCTG (p.Gly1139=)
c.1737_1753delinsTATTAGTGGCCCTCCTG (p.Gly579=)
Xg.108665536A=CA2450711982COL4A5c.3403A= (p.Ile1135=)
c.3079A= (p.Ile1027=)
c.976A= (p.Ile326=)
c.3418A= (p.Ile1140=)
c.1738A= (p.Ile580=)
Xg.108665536A>CCA413847198COL4A5c.3403A>C (p.Ile1135Leu)
c.3079A>C (p.Ile1027Leu)
c.976A>C (p.Ile326Leu)
c.3418A>C (p.Ile1140Leu)
c.1738A>C (p.Ile580Leu)
Xg.108665536A>GCA10489105COL4A5c.3403A>G (p.Ile1135Val)
c.3079A>G (p.Ile1027Val)
c.976A>G (p.Ile326Val)
c.3418A>G (p.Ile1140Val)
c.1738A>G (p.Ile580Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108665536A>TCA413847200COL4A5c.3403A>T (p.Ile1135Phe)
c.3079A>T (p.Ile1027Phe)
c.976A>T (p.Ile326Phe)
c.3418A>T (p.Ile1140Phe)
c.1738A>T (p.Ile580Phe)
Xg.108665536_108665551delinsCCACA2695235645COL4A5c.3403_3418delinsCCA (p.Ile1135ProfsTer13)
c.3079_3094delinsCCA (p.Ile1027ProfsTer13)
c.976_991delinsCCA (p.Ile326ProfsTer13)
c.3418_3433delinsCCA (p.Ile1140ProfsTer13)
c.1738_1753delinsCCA (p.Ile580ProfsTer13)
Xg.108665537T>ACA413847201COL4A5c.3404T>A (p.Ile1135Asn)
c.3080T>A (p.Ile1027Asn)
c.977T>A (p.Ile326Asn)
c.3419T>A (p.Ile1140Asn)
c.1739T>A (p.Ile580Asn)
Xg.108665537T>CCA413847203COL4A5c.3404T>C (p.Ile1135Thr)
c.3080T>C (p.Ile1027Thr)
c.977T>C (p.Ile326Thr)
c.3419T>C (p.Ile1140Thr)
c.1739T>C (p.Ile580Thr)
 dbSNP
Xg.108665537T>GCA413847205COL4A5c.3404T>G (p.Ile1135Ser)
c.3080T>G (p.Ile1027Ser)
c.977T>G (p.Ile326Ser)
c.3419T>G (p.Ile1140Ser)
c.1739T>G (p.Ile580Ser)
Xg.108665537T=CA2450711983COL4A5c.3404T= (p.Ile1135=)
c.3080T= (p.Ile1027=)
c.977T= (p.Ile326=)
c.3419T= (p.Ile1140=)
c.1739T= (p.Ile580=)
Xg.108665538T>ACA517922243COL4A5c.3405T>A (p.Ile1135=)
c.3081T>A (p.Ile1027=)
c.978T>A (p.Ile326=)
c.3420T>A (p.Ile1140=)
c.1740T>A (p.Ile580=)
Xg.108665538T>CCA517922244COL4A5c.3405T>C (p.Ile1135=)
c.3081T>C (p.Ile1027=)
c.978T>C (p.Ile326=)
c.3420T>C (p.Ile1140=)
c.1740T>C (p.Ile580=)
Xg.108665538T>GCA413847207COL4A5c.3405T>G (p.Ile1135Met)
c.3081T>G (p.Ile1027Met)
c.978T>G (p.Ile326Met)
c.3420T>G (p.Ile1140Met)
c.1740T>G (p.Ile580Met)
Xg.108665539A>CCA413847210COL4A5c.3406A>C (p.Ser1136Arg)
c.3082A>C (p.Ser1028Arg)
c.979A>C (p.Ser327Arg)
c.3421A>C (p.Ser1141Arg)
c.1741A>C (p.Ser581Arg)
Xg.108665539A>GCA413847211COL4A5c.3406A>G (p.Ser1136Gly)
c.3082A>G (p.Ser1028Gly)
c.979A>G (p.Ser327Gly)
c.3421A>G (p.Ser1141Gly)
c.1741A>G (p.Ser581Gly)
Xg.108665539A>TCA413847213COL4A5c.3406A>T (p.Ser1136Cys)
c.3082A>T (p.Ser1028Cys)
c.979A>T (p.Ser327Cys)
c.3421A>T (p.Ser1141Cys)
c.1741A>T (p.Ser581Cys)
Xg.108665540G>ACA413847219COL4A5c.3407G>A (p.Ser1136Asn)
c.3083G>A (p.Ser1028Asn)
c.980G>A (p.Ser327Asn)
c.3422G>A (p.Ser1141Asn)
c.1742G>A (p.Ser581Asn)
Xg.108665540G>CCA413847215COL4A5c.3407G>C (p.Ser1136Thr)
c.3083G>C (p.Ser1028Thr)
c.980G>C (p.Ser327Thr)
c.3422G>C (p.Ser1141Thr)
c.1742G>C (p.Ser581Thr)
Xg.108665540G>TCA413847217COL4A5c.3407G>T (p.Ser1136Ile)
c.3083G>T (p.Ser1028Ile)
c.980G>T (p.Ser327Ile)
c.3422G>T (p.Ser1141Ile)
c.1742G>T (p.Ser581Ile)
Xg.108665541T>ACA413847221COL4A5c.3408T>A (p.Ser1136Arg)
c.3084T>A (p.Ser1028Arg)
c.981T>A (p.Ser327Arg)
c.3423T>A (p.Ser1141Arg)
c.1743T>A (p.Ser581Arg)
Xg.108665541T>CCA517922245COL4A5c.3408T>C (p.Ser1136=)
c.3084T>C (p.Ser1028=)
c.981T>C (p.Ser327=)
c.3423T>C (p.Ser1141=)
c.1743T>C (p.Ser581=)
Xg.108665541T>GCA413847224COL4A5c.3408T>G (p.Ser1136Arg)
c.3084T>G (p.Ser1028Arg)
c.981T>G (p.Ser327Arg)
c.3423T>G (p.Ser1141Arg)
c.1743T>G (p.Ser581Arg)
Xg.108665542G>ACA413847227COL4A5c.3409G>A (p.Gly1137Ser)
c.3085G>A (p.Gly1029Ser)
c.982G>A (p.Gly328Ser)
c.3424G>A (p.Gly1142Ser)
c.1744G>A (p.Gly582Ser)
Xg.108665542G>CCA413847229COL4A5c.3409G>C (p.Gly1137Arg)
c.3085G>C (p.Gly1029Arg)
c.982G>C (p.Gly328Arg)
c.3424G>C (p.Gly1142Arg)
c.1744G>C (p.Gly582Arg)
Xg.108665542G=CA2450711984COL4A5c.3409G= (p.Gly1137=)
c.3085G= (p.Gly1029=)
c.982G= (p.Gly328=)
c.3424G= (p.Gly1142=)
c.1744G= (p.Gly582=)
Xg.108665542G>TCA413847230COL4A5c.3409G>T (p.Gly1137Cys)
c.3085G>T (p.Gly1029Cys)
c.982G>T (p.Gly328Cys)
c.3424G>T (p.Gly1142Cys)
c.1744G>T (p.Gly582Cys)
 ClinVar dbSNP
Xg.108665543G>ACA413847232COL4A5c.3410G>A (p.Gly1137Asp)
c.3086G>A (p.Gly1029Asp)
c.983G>A (p.Gly328Asp)
c.3425G>A (p.Gly1142Asp)
c.1745G>A (p.Gly582Asp)
 ClinVar dbSNP
Xg.108665543G>CCA413847233COL4A5c.3410G>C (p.Gly1137Ala)
c.3086G>C (p.Gly1029Ala)
c.983G>C (p.Gly328Ala)
c.3425G>C (p.Gly1142Ala)
c.1745G>C (p.Gly582Ala)
Xg.108665543G=CA2450711986COL4A5c.3410G= (p.Gly1137=)
c.3086G= (p.Gly1029=)
c.983G= (p.Gly328=)
c.3425G= (p.Gly1142=)
c.1745G= (p.Gly582=)
Xg.108665543G>TCA413847234COL4A5c.3410G>T (p.Gly1137Val)
c.3086G>T (p.Gly1029Val)
c.983G>T (p.Gly328Val)
c.3425G>T (p.Gly1142Val)
c.1745G>T (p.Gly582Val)
 gnomAD v4
Xg.108665543_108665544delinsGCCA2450711985COL4A5c.3410_3411delinsGC (p.Gly1137=)
c.3086_3087delinsGC (p.Gly1029=)
c.983_984delinsGC (p.Gly328=)
c.3425_3426delinsGC (p.Gly1142=)
c.1745_1746delinsGC (p.Gly582=)
Xg.108665544C>ACA517922246COL4A5c.3411C>A (p.Gly1137=)
c.3087C>A (p.Gly1029=)
c.984C>A (p.Gly328=)
c.3426C>A (p.Gly1142=)
c.1746C>A (p.Gly582=)
 ClinVar dbSNP
Xg.108665544C>GCA517922247COL4A5c.3411C>G (p.Gly1137=)
c.3087C>G (p.Gly1029=)
c.984C>G (p.Gly328=)
c.3426C>G (p.Gly1142=)
c.1746C>G (p.Gly582=)
Xg.108665544C>TCA517922248COL4A5c.3411C>T (p.Gly1137=)
c.3087C>T (p.Gly1029=)
c.984C>T (p.Gly328=)
c.3426C>T (p.Gly1142=)
c.1746C>T (p.Gly582=)
Xg.108665546delCA258864COL4A5c.3413del (p.Pro1138LeufsTer14)
c.3089del (p.Pro1030LeufsTer14)
c.986del (p.Pro329LeufsTer14)
c.3428del (p.Pro1143LeufsTer14)
c.1748del (p.Pro583LeufsTer14)
 dbSNP
Xg.108665545C>ACA413847237COL4A5c.3412C>A (p.Pro1138Thr)
c.3088C>A (p.Pro1030Thr)
c.985C>A (p.Pro329Thr)
c.3427C>A (p.Pro1143Thr)
c.1747C>A (p.Pro583Thr)
Xg.108665545C>GCA413847238COL4A5c.3412C>G (p.Pro1138Ala)
c.3088C>G (p.Pro1030Ala)
c.985C>G (p.Pro329Ala)
c.3427C>G (p.Pro1143Ala)
c.1747C>G (p.Pro583Ala)
Xg.108665545C>TCA413847240COL4A5c.3412C>T (p.Pro1138Ser)
c.3088C>T (p.Pro1030Ser)
c.985C>T (p.Pro329Ser)
c.3427C>T (p.Pro1143Ser)
c.1747C>T (p.Pro583Ser)
 gnomAD v4
Xg.108665546C>ACA413847244COL4A5c.3413C>A (p.Pro1138His)
c.3089C>A (p.Pro1030His)
c.986C>A (p.Pro329His)
c.3428C>A (p.Pro1143His)
c.1748C>A (p.Pro583His)
Xg.108665546C>GCA413847243COL4A5c.3413C>G (p.Pro1138Arg)
c.3089C>G (p.Pro1030Arg)
c.986C>G (p.Pro329Arg)
c.3428C>G (p.Pro1143Arg)
c.1748C>G (p.Pro583Arg)
Xg.108665546C>TCA413847247COL4A5c.3413C>T (p.Pro1138Leu)
c.3089C>T (p.Pro1030Leu)
c.986C>T (p.Pro329Leu)
c.3428C>T (p.Pro1143Leu)
c.1748C>T (p.Pro583Leu)
Xg.108665547T>ACA517922251COL4A5c.3414T>A (p.Pro1138=)
c.3090T>A (p.Pro1030=)
c.987T>A (p.Pro329=)
c.3429T>A (p.Pro1143=)
c.1749T>A (p.Pro583=)
Xg.108665547T>CCA517922250COL4A5c.3414T>C (p.Pro1138=)
c.3090T>C (p.Pro1030=)
c.987T>C (p.Pro329=)
c.3429T>C (p.Pro1143=)
c.1749T>C (p.Pro583=)
Xg.108665547T>GCA517922249COL4A5c.3414T>G (p.Pro1138=)
c.3090T>G (p.Pro1030=)
c.987T>G (p.Pro329=)
c.3429T>G (p.Pro1143=)
c.1749T>G (p.Pro583=)
Xg.108665548C>ACA413847249COL4A5c.3415C>A (p.Pro1139Thr)
c.3091C>A (p.Pro1031Thr)
c.988C>A (p.Pro330Thr)
c.3430C>A (p.Pro1144Thr)
c.1750C>A (p.Pro584Thr)
Xg.108665548C>GCA413847251COL4A5c.3415C>G (p.Pro1139Ala)
c.3091C>G (p.Pro1031Ala)
c.988C>G (p.Pro330Ala)
c.3430C>G (p.Pro1144Ala)
c.1750C>G (p.Pro584Ala)
Xg.108665548C>TCA413847253COL4A5c.3415C>T (p.Pro1139Ser)
c.3091C>T (p.Pro1031Ser)
c.988C>T (p.Pro330Ser)
c.3430C>T (p.Pro1144Ser)
c.1750C>T (p.Pro584Ser)
 gnomAD v4
Xg.108665549C>ACA413847255COL4A5c.3416C>A (p.Pro1139His)
c.3092C>A (p.Pro1031His)
c.989C>A (p.Pro330His)
c.3431C>A (p.Pro1144His)
c.1751C>A (p.Pro584His)
 gnomAD v4
Xg.108665549C>GCA413847257COL4A5c.3416C>G (p.Pro1139Arg)
c.3092C>G (p.Pro1031Arg)
c.989C>G (p.Pro330Arg)
c.3431C>G (p.Pro1144Arg)
c.1751C>G (p.Pro584Arg)
Xg.108665549C>TCA413847259COL4A5c.3416C>T (p.Pro1139Leu)
c.3092C>T (p.Pro1031Leu)
c.989C>T (p.Pro330Leu)
c.3431C>T (p.Pro1144Leu)
c.1751C>T (p.Pro584Leu)
Xg.108665550T>ACA517922252COL4A5c.3417T>A (p.Pro1139=)
c.3093T>A (p.Pro1031=)
c.990T>A (p.Pro330=)
c.3432T>A (p.Pro1144=)
c.1752T>A (p.Pro584=)
Xg.108665550T>CCA517922253COL4A5c.3417T>C (p.Pro1139=)
c.3093T>C (p.Pro1031=)
c.990T>C (p.Pro330=)
c.3432T>C (p.Pro1144=)
c.1752T>C (p.Pro584=)
Xg.108665550T>GCA517922254COL4A5c.3417T>G (p.Pro1139=)
c.3093T>G (p.Pro1031=)
c.990T>G (p.Pro330=)
c.3432T>G (p.Pro1144=)
c.1752T>G (p.Pro584=)
Xg.108665551G>ACA413847261COL4A5c.3418G>A (p.Gly1140Arg)
c.3094G>A (p.Gly1032Arg)
c.991G>A (p.Gly331Arg)
c.3433G>A (p.Gly1145Arg)
c.1753G>A (p.Gly585Arg)
Xg.108665551G>CCA413847262COL4A5c.3418G>C (p.Gly1140Arg)
c.3094G>C (p.Gly1032Arg)
c.991G>C (p.Gly331Arg)
c.3433G>C (p.Gly1145Arg)
c.1753G>C (p.Gly585Arg)
Xg.108665551G>TCA413847264COL4A5c.3418G>T (p.Gly1140Trp)
c.3094G>T (p.Gly1032Trp)
c.991G>T (p.Gly331Trp)
c.3433G>T (p.Gly1145Trp)
c.1753G>T (p.Gly585Trp)
Xg.108665552G>ACA413847267COL4A5c.3419G>A (p.Gly1140Glu)
c.3095G>A (p.Gly1032Glu)
c.992G>A (p.Gly331Glu)
c.3434G>A (p.Gly1145Glu)
c.1754G>A (p.Gly585Glu)
Xg.108665552G>CCA413847268COL4A5c.3419G>C (p.Gly1140Ala)
c.3095G>C (p.Gly1032Ala)
c.992G>C (p.Gly331Ala)
c.3434G>C (p.Gly1145Ala)
c.1754G>C (p.Gly585Ala)
Xg.108665552G>TCA413847271COL4A5c.3419G>T (p.Gly1140Val)
c.3095G>T (p.Gly1032Val)
c.992G>T (p.Gly331Val)
c.3434G>T (p.Gly1145Val)
c.1754G>T (p.Gly585Val)
Xg.108665553G>ACA517922255COL4A5c.3420G>A (p.Gly1140=)
c.3096G>A (p.Gly1032=)
c.993G>A (p.Gly331=)
c.3435G>A (p.Gly1145=)
c.1755G>A (p.Gly585=)
 gnomAD v4
Xg.108665553G>CCA517922256COL4A5c.3420G>C (p.Gly1140=)
c.3096G>C (p.Gly1032=)
c.993G>C (p.Gly331=)
c.3435G>C (p.Gly1145=)
c.1755G>C (p.Gly585=)
Xg.108665553G>TCA517922257COL4A5c.3420G>T (p.Gly1140=)
c.3096G>T (p.Gly1032=)
c.993G>T (p.Gly331=)
c.3435G>T (p.Gly1145=)
c.1755G>T (p.Gly585=)
Xg.108665554A>CCA413847275COL4A5c.3421A>C (p.Asn1141His)
c.3097A>C (p.Asn1033His)
c.994A>C (p.Asn332His)
c.3436A>C (p.Asn1146His)
c.1756A>C (p.Asn586His)
Xg.108665554A>GCA413847278COL4A5c.3421A>G (p.Asn1141Asp)
c.3097A>G (p.Asn1033Asp)
c.994A>G (p.Asn332Asp)
c.3436A>G (p.Asn1146Asp)
c.1756A>G (p.Asn586Asp)
Xg.108665554A>TCA413847273COL4A5c.3421A>T (p.Asn1141Tyr)
c.3097A>T (p.Asn1033Tyr)
c.994A>T (p.Asn332Tyr)
c.3436A>T (p.Asn1146Tyr)
c.1756A>T (p.Asn586Tyr)
Xg.108665555A=CA2450711987COL4A5c.3422A= (p.Asn1141=)
c.3098A= (p.Asn1033=)
c.995A= (p.Asn332=)
c.3437A= (p.Asn1146=)
c.1757A= (p.Asn586=)
Xg.108665555A>CCA413847281COL4A5c.3422A>C (p.Asn1141Thr)
c.3098A>C (p.Asn1033Thr)
c.995A>C (p.Asn332Thr)
c.3437A>C (p.Asn1146Thr)
c.1757A>C (p.Asn586Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.108665555A>GCA413847282COL4A5c.3422A>G (p.Asn1141Ser)
c.3098A>G (p.Asn1033Ser)
c.995A>G (p.Asn332Ser)
c.3437A>G (p.Asn1146Ser)
c.1757A>G (p.Asn586Ser)
 gnomAD v4
Xg.108665555A>TCA413847284COL4A5c.3422A>T (p.Asn1141Ile)
c.3098A>T (p.Asn1033Ile)
c.995A>T (p.Asn332Ile)
c.3437A>T (p.Asn1146Ile)
c.1757A>T (p.Asn586Ile)
Xg.108665556C>ACA413847286COL4A5c.3423C>A (p.Asn1141Lys)
c.3099C>A (p.Asn1033Lys)
c.996C>A (p.Asn332Lys)
c.3438C>A (p.Asn1146Lys)
c.1758C>A (p.Asn586Lys)
 gnomAD v4
Xg.108665556C=CA2450711988COL4A5c.3423C= (p.Asn1141=)
c.3099C= (p.Asn1033=)
c.996C= (p.Asn332=)
c.3438C= (p.Asn1146=)
c.1758C= (p.Asn586=)
Xg.108665556C>GCA413847288COL4A5c.3423C>G (p.Asn1141Lys)
c.3099C>G (p.Asn1033Lys)
c.996C>G (p.Asn332Lys)
c.3438C>G (p.Asn1146Lys)
c.1758C>G (p.Asn586Lys)
Xg.108665556C>TCA10489106COL4A5c.3423C>T (p.Asn1141=)
c.3099C>T (p.Asn1033=)
c.996C>T (p.Asn332=)
c.3438C>T (p.Asn1146=)
c.1758C>T (p.Asn586=)
 ClinVar dbSNP ExAC gnomAD v2
Xg.108665557C>ACA413847290COL4A5c.3424C>A (p.Pro1142Thr)
c.3100C>A (p.Pro1034Thr)
c.997C>A (p.Pro333Thr)
c.3439C>A (p.Pro1147Thr)
c.1759C>A (p.Pro587Thr)
Xg.108665557C=CA2450711989COL4A5c.3424C= (p.Pro1142=)
c.3100C= (p.Pro1034=)
c.997C= (p.Pro333=)
c.3439C= (p.Pro1147=)
c.1759C= (p.Pro587=)
Xg.108665557C>GCA413847293COL4A5c.3424C>G (p.Pro1142Ala)
c.3100C>G (p.Pro1034Ala)
c.997C>G (p.Pro333Ala)
c.3439C>G (p.Pro1147Ala)
c.1759C>G (p.Pro587Ala)
Xg.108665557C>TCA413847292COL4A5c.3424C>T (p.Pro1142Ser)
c.3100C>T (p.Pro1034Ser)
c.997C>T (p.Pro333Ser)
c.3439C>T (p.Pro1147Ser)
c.1759C>T (p.Pro587Ser)
 ClinVar dbSNP
Xg.108665558C>ACA413847296COL4A5c.3425C>A (p.Pro1142His)
c.3101C>A (p.Pro1034His)
c.998C>A (p.Pro333His)
c.3440C>A (p.Pro1147His)
c.1760C>A (p.Pro587His)
Xg.108665558C>GCA413847298COL4A5c.3425C>G (p.Pro1142Arg)
c.3101C>G (p.Pro1034Arg)
c.998C>G (p.Pro333Arg)
c.3440C>G (p.Pro1147Arg)
c.1760C>G (p.Pro587Arg)
Xg.108665558C>TCA413847300COL4A5c.3425C>T (p.Pro1142Leu)
c.3101C>T (p.Pro1034Leu)
c.998C>T (p.Pro333Leu)
c.3440C>T (p.Pro1147Leu)
c.1760C>T (p.Pro587Leu)
Xg.108665559C>ACA517922258COL4A5c.3426C>A (p.Pro1142=)
c.3102C>A (p.Pro1034=)
c.999C>A (p.Pro333=)
c.3441C>A (p.Pro1147=)
c.1761C>A (p.Pro587=)
Xg.108665559C=CA2450711990COL4A5c.3426C= (p.Pro1142=)
c.3102C= (p.Pro1034=)
c.999C= (p.Pro333=)
c.3441C= (p.Pro1147=)
c.1761C= (p.Pro587=)
Xg.108665559C>GCA517922259COL4A5c.3426C>G (p.Pro1142=)
c.3102C>G (p.Pro1034=)
c.999C>G (p.Pro333=)
c.3441C>G (p.Pro1147=)
c.1761C>G (p.Pro587=)
 ClinVar
Xg.108665559C>TCA10489107COL4A5c.3426C>T (p.Pro1142=)
c.3102C>T (p.Pro1034=)
c.999C>T (p.Pro333=)
c.3441C>T (p.Pro1147=)
c.1761C>T (p.Pro587=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108665560G>ACA258865COL4A5c.3427G>A (p.Gly1143Ser)
c.3103G>A (p.Gly1035Ser)
c.1000G>A (p.Gly334Ser)
c.3442G>A (p.Gly1148Ser)
c.1762G>A (p.Gly588Ser)
 ClinVar dbSNP gnomAD v4
Xg.108665560G>CCA413847307COL4A5c.3427G>C (p.Gly1143Arg)
c.3103G>C (p.Gly1035Arg)
c.1000G>C (p.Gly334Arg)
c.3442G>C (p.Gly1148Arg)
c.1762G>C (p.Gly588Arg)
Xg.108665560G=CA2450711991COL4A5c.3427G= (p.Gly1143=)
c.3103G= (p.Gly1035=)
c.1000G= (p.Gly334=)
c.3442G= (p.Gly1148=)
c.1762G= (p.Gly588=)
Xg.108665560G>TCA413847304COL4A5c.3427G>T (p.Gly1143Cys)
c.3103G>T (p.Gly1035Cys)
c.1000G>T (p.Gly334Cys)
c.3442G>T (p.Gly1148Cys)
c.1762G>T (p.Gly588Cys)
 ClinVar dbSNP
Xg.108665561G>ACA255260COL4A5c.3428G>A (p.Gly1143Asp)
c.3104G>A (p.Gly1035Asp)
c.1001G>A (p.Gly334Asp)
c.3443G>A (p.Gly1148Asp)
c.1763G>A (p.Gly588Asp)
 ClinVar dbSNP
Xg.108665561G>CCA413847309COL4A5c.3428G>C (p.Gly1143Ala)
c.3104G>C (p.Gly1035Ala)
c.1001G>C (p.Gly334Ala)
c.3443G>C (p.Gly1148Ala)
c.1763G>C (p.Gly588Ala)
Xg.108665561G=CA2450711992COL4A5c.3428G= (p.Gly1143=)
c.3104G= (p.Gly1035=)
c.1001G= (p.Gly334=)
c.3443G= (p.Gly1148=)
c.1763G= (p.Gly588=)
Xg.108665561G>TCA413847308COL4A5c.3428G>T (p.Gly1143Val)
c.3104G>T (p.Gly1035Val)
c.1001G>T (p.Gly334Val)
c.3443G>T (p.Gly1148Val)
c.1763G>T (p.Gly588Val)
Xg.108665561_108665562delinsTACA2739289606COL4A5c.3428_3429delinsTA (p.Gly1143Val)
c.3104_3105delinsTA (p.Gly1035Val)
c.1001_1002delinsTA (p.Gly334Val)
c.3443_3444delinsTA (p.Gly1148Val)
c.1763_1764delinsTA (p.Gly588Val)

Number of alleles fetched