Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108666438_108666454delCA2822901930COL4A5c.3455-58_3455-42del (n.3455-58_3455-42del)
c.3131-58_3131-42del (n.3131-58_3131-42del)
c.1028-58_1028-42del (n.1028-58_1028-42del)
c.3470-58_3470-42del (n.3470-58_3470-42del)
c.1790-58_1790-42del (n.1790-58_1790-42del)
Xg.108666446G>ACA2579676860COL4A5c.3455-50G>A (n.3455-50G>A)
c.3131-50G>A (n.3131-50G>A)
c.1028-50G>A (n.1028-50G>A)
c.3470-50G>A (n.3470-50G>A)
c.1790-50G>A (n.1790-50G>A)
 gnomAD v4
Xg.108666447A>CCA2694441392COL4A5c.3455-49A>C (n.3455-49A>C)
c.3131-49A>C (n.3131-49A>C)
c.1028-49A>C (n.1028-49A>C)
c.3470-49A>C (n.3470-49A>C)
c.1790-49A>C (n.1790-49A>C)
 gnomAD v4
Xg.108666449T>CCA10489117COL4A5c.3455-47T>C (n.3455-47T>C)
c.3131-47T>C (n.3131-47T>C)
c.1028-47T>C (n.1028-47T>C)
c.3470-47T>C (n.3470-47T>C)
c.1790-47T>C (n.1790-47T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108666449T=CA2450712295COL4A5c.3455-47T= (n.3455-47T=)
c.3131-47T= (n.3131-47T=)
c.1028-47T= (n.1028-47T=)
c.3470-47T= (n.3470-47T=)
c.1790-47T= (n.1790-47T=)
Xg.108666450T>CCA1136188976COL4A5c.3455-46T>C (n.3455-46T>C)
c.3131-46T>C (n.3131-46T>C)
c.1028-46T>C (n.1028-46T>C)
c.3470-46T>C (n.3470-46T>C)
c.1790-46T>C (n.1790-46T>C)
 dbSNP gnomAD v4
Xg.108666450T=CA2450712296COL4A5c.3455-46T= (n.3455-46T=)
c.3131-46T= (n.3131-46T=)
c.1028-46T= (n.1028-46T=)
c.3470-46T= (n.3470-46T=)
c.1790-46T= (n.1790-46T=)
Xg.108666452delCA2579676861COL4A5c.3455-44del (n.3455-44del)
c.3131-44del (n.3131-44del)
c.1028-44del (n.1028-44del)
c.3470-44del (n.3470-44del)
c.1790-44del (n.1790-44del)
Xg.108666455A>GCA2579676862COL4A5c.3455-41A>G (n.3455-41A>G)
c.3131-41A>G (n.3131-41A>G)
c.1028-41A>G (n.1028-41A>G)
c.3470-41A>G (n.3470-41A>G)
c.1790-41A>G (n.1790-41A>G)
Xg.108666456T>CCA334045577COL4A5c.3455-40T>C (n.3455-40T>C)
c.3131-40T>C (n.3131-40T>C)
c.1028-40T>C (n.1028-40T>C)
c.3470-40T>C (n.3470-40T>C)
c.1790-40T>C (n.1790-40T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666456T=CA2450712297COL4A5c.3455-40T= (n.3455-40T=)
c.3131-40T= (n.3131-40T=)
c.1028-40T= (n.1028-40T=)
c.3470-40T= (n.3470-40T=)
c.1790-40T= (n.1790-40T=)
Xg.108666457delCA2694441393COL4A5c.3455-39del (n.3455-39del)
c.3131-39del (n.3131-39del)
c.1028-39del (n.1028-39del)
c.3470-39del (n.3470-39del)
c.1790-39del (n.1790-39del)
 gnomAD v4
Xg.108666458G>TCA2579676863COL4A5c.3455-38G>T (n.3455-38G>T)
c.3131-38G>T (n.3131-38G>T)
c.1028-38G>T (n.1028-38G>T)
c.3470-38G>T (n.3470-38G>T)
c.1790-38G>T (n.1790-38G>T)
 gnomAD v4
Xg.108666459delCA2694441394COL4A5c.3455-37del (n.3455-37del)
c.3131-37del (n.3131-37del)
c.1028-37del (n.1028-37del)
c.3470-37del (n.3470-37del)
c.1790-37del (n.1790-37del)
 gnomAD v4
Xg.108666459G>ACA2694441395COL4A5c.3455-37G>A (n.3455-37G>A)
c.3131-37G>A (n.3131-37G>A)
c.1028-37G>A (n.1028-37G>A)
c.3470-37G>A (n.3470-37G>A)
c.1790-37G>A (n.1790-37G>A)
 gnomAD v4
Xg.108666464C>ACA2579676864COL4A5c.3455-32C>A (n.3455-32C>A)
c.3131-32C>A (n.3131-32C>A)
c.1028-32C>A (n.1028-32C>A)
c.3470-32C>A (n.3470-32C>A)
c.1790-32C>A (n.1790-32C>A)
 gnomAD v4
Xg.108666464C>TCA2694441396COL4A5c.3455-32C>T (n.3455-32C>T)
c.3131-32C>T (n.3131-32C>T)
c.1028-32C>T (n.1028-32C>T)
c.3470-32C>T (n.3470-32C>T)
c.1790-32C>T (n.1790-32C>T)
 gnomAD v4
Xg.108666465T>ACA1136188985COL4A5c.3455-31T>A (n.3455-31T>A)
c.3131-31T>A (n.3131-31T>A)
c.1028-31T>A (n.1028-31T>A)
c.3470-31T>A (n.3470-31T>A)
c.1790-31T>A (n.1790-31T>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108666465T>CCA10489118COL4A5c.3455-31T>C (n.3455-31T>C)
c.3131-31T>C (n.3131-31T>C)
c.1028-31T>C (n.1028-31T>C)
c.3470-31T>C (n.3470-31T>C)
c.1790-31T>C (n.1790-31T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108666465T=CA2450712298COL4A5c.3455-31T= (n.3455-31T=)
c.3131-31T= (n.3131-31T=)
c.1028-31T= (n.1028-31T=)
c.3470-31T= (n.3470-31T=)
c.1790-31T= (n.1790-31T=)
Xg.108666466G>TCA2694441398COL4A5c.3455-30G>T (n.3455-30G>T)
c.3131-30G>T (n.3131-30G>T)
c.1028-30G>T (n.1028-30G>T)
c.3470-30G>T (n.3470-30G>T)
c.1790-30G>T (n.1790-30G>T)
 gnomAD v4
Xg.108666468delCA2694441397COL4A5c.3455-28del (n.3455-28del)
c.3131-28del (n.3131-28del)
c.1028-28del (n.1028-28del)
c.3470-28del (n.3470-28del)
c.1790-28del (n.1790-28del)
 gnomAD v4
Xg.108666467G>ACA2694441399COL4A5c.3455-29G>A (n.3455-29G>A)
c.3131-29G>A (n.3131-29G>A)
c.1028-29G>A (n.1028-29G>A)
c.3470-29G>A (n.3470-29G>A)
c.1790-29G>A (n.1790-29G>A)
 gnomAD v4
Xg.108666467G>TCA2561305175COL4A5c.3455-29G>T (n.3455-29G>T)
c.3131-29G>T (n.3131-29G>T)
c.1028-29G>T (n.1028-29G>T)
c.3470-29G>T (n.3470-29G>T)
c.1790-29G>T (n.1790-29G>T)
Xg.108666468G=CA2450712299COL4A5c.3455-28G= (n.3455-28G=)
c.3131-28G= (n.3131-28G=)
c.1028-28G= (n.1028-28G=)
c.3470-28G= (n.3470-28G=)
c.1790-28G= (n.1790-28G=)
Xg.108666468G>TCA334045583COL4A5c.3455-28G>T (n.3455-28G>T)
c.3131-28G>T (n.3131-28G>T)
c.1028-28G>T (n.1028-28G>T)
c.3470-28G>T (n.3470-28G>T)
c.1790-28G>T (n.1790-28G>T)
 dbSNP gnomAD v4
Xg.108666470G>ACA2694441400COL4A5c.3455-26G>A (n.3455-26G>A)
c.3131-26G>A (n.3131-26G>A)
c.1028-26G>A (n.1028-26G>A)
c.3470-26G>A (n.3470-26G>A)
c.1790-26G>A (n.1790-26G>A)
 gnomAD v4
Xg.108666471T>ACA2694441401COL4A5c.3455-25T>A (n.3455-25T>A)
c.3131-25T>A (n.3131-25T>A)
c.1028-25T>A (n.1028-25T>A)
c.3470-25T>A (n.3470-25T>A)
c.1790-25T>A (n.1790-25T>A)
 gnomAD v4
Xg.108666471T>CCA2694441402COL4A5c.3455-25T>C (n.3455-25T>C)
c.3131-25T>C (n.3131-25T>C)
c.1028-25T>C (n.1028-25T>C)
c.3470-25T>C (n.3470-25T>C)
c.1790-25T>C (n.1790-25T>C)
 gnomAD v4
Xg.108666472A>GCA2694441403COL4A5c.3455-24A>G (n.3455-24A>G)
c.3131-24A>G (n.3131-24A>G)
c.1028-24A>G (n.1028-24A>G)
c.3470-24A>G (n.3470-24A>G)
c.1790-24A>G (n.1790-24A>G)
 gnomAD v4
Xg.108666473A>GCA2694441404COL4A5c.3455-23A>G (n.3455-23A>G)
c.3131-23A>G (n.3131-23A>G)
c.1028-23A>G (n.1028-23A>G)
c.3470-23A>G (n.3470-23A>G)
c.1790-23A>G (n.1790-23A>G)
 gnomAD v4
Xg.108666474C>ACA869812057COL4A5c.3455-22C>A (n.3455-22C>A)
c.3131-22C>A (n.3131-22C>A)
c.1028-22C>A (n.1028-22C>A)
c.3470-22C>A (n.3470-22C>A)
c.1790-22C>A (n.1790-22C>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108666474C=CA2450712300COL4A5c.3455-22C= (n.3455-22C=)
c.3131-22C= (n.3131-22C=)
c.1028-22C= (n.1028-22C=)
c.3470-22C= (n.3470-22C=)
c.1790-22C= (n.1790-22C=)
Xg.108666474C>TCA2694441405COL4A5c.3455-22C>T (n.3455-22C>T)
c.3131-22C>T (n.3131-22C>T)
c.1028-22C>T (n.1028-22C>T)
c.3470-22C>T (n.3470-22C>T)
c.1790-22C>T (n.1790-22C>T)
 gnomAD v4
Xg.108666475C>ACA2694441406COL4A5c.3455-21C>A (n.3455-21C>A)
c.3131-21C>A (n.3131-21C>A)
c.1028-21C>A (n.1028-21C>A)
c.3470-21C>A (n.3470-21C>A)
c.1790-21C>A (n.1790-21C>A)
 gnomAD v4
Xg.108666475C>TCA2694441407COL4A5c.3455-21C>T (n.3455-21C>T)
c.3131-21C>T (n.3131-21C>T)
c.1028-21C>T (n.1028-21C>T)
c.3470-21C>T (n.3470-21C>T)
c.1790-21C>T (n.1790-21C>T)
 gnomAD v4
Xg.108666476T>CCA643636640COL4A5c.3455-20T>C (n.3455-20T>C)
c.3131-20T>C (n.3131-20T>C)
c.1028-20T>C (n.1028-20T>C)
c.3470-20T>C (n.3470-20T>C)
c.1790-20T>C (n.1790-20T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666476T=CA2450712301COL4A5c.3455-20T= (n.3455-20T=)
c.3131-20T= (n.3131-20T=)
c.1028-20T= (n.1028-20T=)
c.3470-20T= (n.3470-20T=)
c.1790-20T= (n.1790-20T=)
Xg.108666477G>TCA2579676865COL4A5c.3455-19G>T (n.3455-19G>T)
c.3131-19G>T (n.3131-19G>T)
c.1028-19G>T (n.1028-19G>T)
c.3470-19G>T (n.3470-19G>T)
c.1790-19G>T (n.1790-19G>T)
 gnomAD v4
Xg.108666478C>ACA2694441408COL4A5c.3455-18C>A (n.3455-18C>A)
c.3131-18C>A (n.3131-18C>A)
c.1028-18C>A (n.1028-18C>A)
c.3470-18C>A (n.3470-18C>A)
c.1790-18C>A (n.1790-18C>A)
 gnomAD v4
Xg.108666478C>TCA2567772169COL4A5c.3455-18C>T (n.3455-18C>T)
c.3131-18C>T (n.3131-18C>T)
c.1028-18C>T (n.1028-18C>T)
c.3470-18C>T (n.3470-18C>T)
c.1790-18C>T (n.1790-18C>T)
 dbSNP gnomAD v4
Xg.108666479T>ACA334045588COL4A5c.3455-17T>A (n.3455-17T>A)
c.3131-17T>A (n.3131-17T>A)
c.1028-17T>A (n.1028-17T>A)
c.3470-17T>A (n.3470-17T>A)
c.1790-17T>A (n.1790-17T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666479T=CA2450712302COL4A5c.3455-17T= (n.3455-17T=)
c.3131-17T= (n.3131-17T=)
c.1028-17T= (n.1028-17T=)
c.3470-17T= (n.3470-17T=)
c.1790-17T= (n.1790-17T=)
Xg.108666480G>ACA10489119COL4A5c.3455-16G>A (n.3455-16G>A)
c.3131-16G>A (n.3131-16G>A)
c.1028-16G>A (n.1028-16G>A)
c.3470-16G>A (n.3470-16G>A)
c.1790-16G>A (n.1790-16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108666480G=CA2450712303COL4A5c.3455-16G= (n.3455-16G=)
c.3131-16G= (n.3131-16G=)
c.1028-16G= (n.1028-16G=)
c.3470-16G= (n.3470-16G=)
c.1790-16G= (n.1790-16G=)
Xg.108666480G>TCA2694441409COL4A5c.3455-16G>T (n.3455-16G>T)
c.3131-16G>T (n.3131-16G>T)
c.1028-16G>T (n.1028-16G>T)
c.3470-16G>T (n.3470-16G>T)
c.1790-16G>T (n.1790-16G>T)
 gnomAD v4
Xg.108666481T>ACA2697544717COL4A5c.3455-15T>A (n.3455-15T>A)
c.3131-15T>A (n.3131-15T>A)
c.1028-15T>A (n.1028-15T>A)
c.3470-15T>A (n.3470-15T>A)
c.1790-15T>A (n.1790-15T>A)
 ClinVar
Xg.108666482A>TCA2694441410COL4A5c.3455-14A>T (n.3455-14A>T)
c.3131-14A>T (n.3131-14A>T)
c.1028-14A>T (n.1028-14A>T)
c.3470-14A>T (n.3470-14A>T)
c.1790-14A>T (n.1790-14A>T)
 gnomAD v4
Xg.108666483C>ACA2694441411COL4A5c.3455-13C>A (n.3455-13C>A)
c.3131-13C>A (n.3131-13C>A)
c.1028-13C>A (n.1028-13C>A)
c.3470-13C>A (n.3470-13C>A)
c.1790-13C>A (n.1790-13C>A)
 gnomAD v4
Xg.108666483C=CA2450712304COL4A5c.3455-13C= (n.3455-13C=)
c.3131-13C= (n.3131-13C=)
c.1028-13C= (n.1028-13C=)
c.3470-13C= (n.3470-13C=)
c.1790-13C= (n.1790-13C=)
Xg.108666483C>TCA10489120COL4A5c.3455-13C>T (n.3455-13C>T)
c.3131-13C>T (n.3131-13C>T)
c.1028-13C>T (n.1028-13C>T)
c.3470-13C>T (n.3470-13C>T)
c.1790-13C>T (n.1790-13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108666484T>CCA2694441412COL4A5c.3455-12T>C (n.3455-12T>C)
c.3131-12T>C (n.3131-12T>C)
c.1028-12T>C (n.1028-12T>C)
c.3470-12T>C (n.3470-12T>C)
c.1790-12T>C (n.1790-12T>C)
 gnomAD v4
Xg.108666485C>ACA2694441413COL4A5c.3455-11C>A (n.3455-11C>A)
c.3131-11C>A (n.3131-11C>A)
c.1028-11C>A (n.1028-11C>A)
c.3470-11C>A (n.3470-11C>A)
c.1790-11C>A (n.1790-11C>A)
 gnomAD v4
Xg.108666485C>TCA2694441414COL4A5c.3455-11C>T (n.3455-11C>T)
c.3131-11C>T (n.3131-11C>T)
c.1028-11C>T (n.1028-11C>T)
c.3470-11C>T (n.3470-11C>T)
c.1790-11C>T (n.1790-11C>T)
 gnomAD v4
Xg.108666487dupCA2579676866COL4A5c.3455-9dup (n.3455-9dup)
c.3131-9dup (n.3131-9dup)
c.1028-9dup (n.1028-9dup)
c.3470-9dup (n.3470-9dup)
c.1790-9dup (n.1790-9dup)
Xg.108666487A=CA2450712305COL4A5c.3455-9A= (n.3455-9A=)
c.3131-9A= (n.3131-9A=)
c.1028-9A= (n.1028-9A=)
c.3470-9A= (n.3470-9A=)
c.1790-9A= (n.1790-9A=)
Xg.108666487A>GCA258868COL4A5c.3455-9A>G (n.3455-9A>G)
c.3131-9A>G (n.3131-9A>G)
c.1028-9A>G (n.1028-9A>G)
c.3470-9A>G (n.3470-9A>G)
c.1790-9A>G (n.1790-9A>G)
 ClinVar dbSNP
Xg.108666488T>ACA2694441415COL4A5c.3455-8T>A (n.3455-8T>A)
c.3131-8T>A (n.3131-8T>A)
c.1028-8T>A (n.1028-8T>A)
c.3470-8T>A (n.3470-8T>A)
c.1790-8T>A (n.1790-8T>A)
 gnomAD v4
Xg.108666488T>GCA913190508COL4A5c.3455-8T>G (n.3455-8T>G)
c.3131-8T>G (n.3131-8T>G)
c.1028-8T>G (n.1028-8T>G)
c.3470-8T>G (n.3470-8T>G)
c.1790-8T>G (n.1790-8T>G)
 ClinVar dbSNP
Xg.108666488T=CA2450712306COL4A5c.3455-8T= (n.3455-8T=)
c.3131-8T= (n.3131-8T=)
c.1028-8T= (n.1028-8T=)
c.3470-8T= (n.3470-8T=)
c.1790-8T= (n.1790-8T=)
Xg.108666490T>GCA2694441416COL4A5c.3455-6T>G (n.3455-6T>G)
c.3131-6T>G (n.3131-6T>G)
c.1028-6T>G (n.1028-6T>G)
c.3470-6T>G (n.3470-6T>G)
c.1790-6T>G (n.1790-6T>G)
 gnomAD v4
Xg.108666491T>GCA1136188996COL4A5c.3455-5T>G (n.3455-5T>G)
c.3131-5T>G (n.3131-5T>G)
c.1028-5T>G (n.1028-5T>G)
c.3470-5T>G (n.3470-5T>G)
c.1790-5T>G (n.1790-5T>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108666491T=CA2450712307COL4A5c.3455-5T= (n.3455-5T=)
c.3131-5T= (n.3131-5T=)
c.1028-5T= (n.1028-5T=)
c.3470-5T= (n.3470-5T=)
c.1790-5T= (n.1790-5T=)
Xg.108666492T>GCA643636641COL4A5c.3455-4T>G (n.3455-4T>G)
c.3131-4T>G (n.3131-4T>G)
c.1028-4T>G (n.1028-4T>G)
c.3470-4T>G (n.3470-4T>G)
c.1790-4T>G (n.1790-4T>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666492T=CA2450712308COL4A5c.3455-4T= (n.3455-4T=)
c.3131-4T= (n.3131-4T=)
c.1028-4T= (n.1028-4T=)
c.3470-4T= (n.3470-4T=)
c.1790-4T= (n.1790-4T=)
Xg.108666493T=CA2450712309COL4A5c.3455-3T= (n.3455-3T=)
c.3131-3T= (n.3131-3T=)
c.1028-3T= (n.1028-3T=)
c.3470-3T= (n.3470-3T=)
c.1790-3T= (n.1790-3T=)
Xg.108666494A>CCA413847564COL4A5c.3455-2A>C (n.3455-2A>C)
c.3131-2A>C (n.3131-2A>C)
c.1028-2A>C (n.1028-2A>C)
c.3470-2A>C (n.3470-2A>C)
c.1790-2A>C (n.1790-2A>C)
Xg.108666494A>GCA413847559COL4A5c.3455-2A>G (n.3455-2A>G)
c.3131-2A>G (n.3131-2A>G)
c.1028-2A>G (n.1028-2A>G)
c.3470-2A>G (n.3470-2A>G)
c.1790-2A>G (n.1790-2A>G)
 gnomAD v4
Xg.108666494A>TCA413847562COL4A5c.3455-2A>T (n.3455-2A>T)
c.3131-2A>T (n.3131-2A>T)
c.1028-2A>T (n.1028-2A>T)
c.3470-2A>T (n.3470-2A>T)
c.1790-2A>T (n.1790-2A>T)
 gnomAD v4
Xg.108666494dupCA2450712310COL4A5c.3455-2dup (n.3455-2dup)
c.3131-2dup (n.3131-2dup)
c.1028-2dup (n.1028-2dup)
c.3470-2dup (n.3470-2dup)
c.1790-2dup (n.1790-2dup)
 dbSNP
Xg.108666495G>ACA413847567COL4A5c.3455-1G>A (n.3455-1G>A)
c.3131-1G>A (n.3131-1G>A)
c.1028-1G>A (n.1028-1G>A)
c.3470-1G>A (n.3470-1G>A)
c.1790-1G>A (n.1790-1G>A)
 gnomAD v4
Xg.108666495G>CCA413847570COL4A5c.3455-1G>C (n.3455-1G>C)
c.3131-1G>C (n.3131-1G>C)
c.1028-1G>C (n.1028-1G>C)
c.3470-1G>C (n.3470-1G>C)
c.1790-1G>C (n.1790-1G>C)
Xg.108666495G>TCA413847572COL4A5c.3455-1G>T (n.3455-1G>T)
c.3131-1G>T (n.3131-1G>T)
c.1028-1G>T (n.1028-1G>T)
c.3470-1G>T (n.3470-1G>T)
c.1790-1G>T (n.1790-1G>T)
Xg.108666496G>ACA413847576COL4A5c.3455G>A (p.Gly1152Asp)
c.3131G>A (p.Gly1044Asp)
c.1028G>A (p.Gly343Asp)
c.3470G>A (p.Gly1157Asp)
c.1790G>A (p.Gly597Asp)
 gnomAD v4
Xg.108666496G>CCA413847579COL4A5c.3455G>C (p.Gly1152Ala)
c.3131G>C (p.Gly1044Ala)
c.1028G>C (p.Gly343Ala)
c.3470G>C (p.Gly1157Ala)
c.1790G>C (p.Gly597Ala)
Xg.108666496G>TCA413847582COL4A5c.3455G>T (p.Gly1152Val)
c.3131G>T (p.Gly1044Val)
c.1028G>T (p.Gly343Val)
c.3470G>T (p.Gly1157Val)
c.1790G>T (p.Gly597Val)
Xg.108666497T>ACA517922309COL4A5c.3456T>A (p.Gly1152=)
c.3132T>A (p.Gly1044=)
c.1029T>A (p.Gly343=)
c.3471T>A (p.Gly1157=)
c.1791T>A (p.Gly597=)
Xg.108666497T>CCA517922310COL4A5c.3456T>C (p.Gly1152=)
c.3132T>C (p.Gly1044=)
c.1029T>C (p.Gly343=)
c.3471T>C (p.Gly1157=)
c.1791T>C (p.Gly597=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666497T>GCA517922311COL4A5c.3456T>G (p.Gly1152=)
c.3132T>G (p.Gly1044=)
c.1029T>G (p.Gly343=)
c.3471T>G (p.Gly1157=)
c.1791T>G (p.Gly597=)
Xg.108666497T=CA2450712311COL4A5c.3456T= (p.Gly1152=)
c.3132T= (p.Gly1044=)
c.1029T= (p.Gly343=)
c.3471T= (p.Gly1157=)
c.1791T= (p.Gly597=)
Xg.108666498G>ACA413847585COL4A5c.3457G>A (p.Gly1153Ser)
c.3133G>A (p.Gly1045Ser)
c.1030G>A (p.Gly344Ser)
c.3472G>A (p.Gly1158Ser)
c.1792G>A (p.Gly598Ser)
 gnomAD v4
Xg.108666498G>CCA334045617COL4A5c.3457G>C (p.Gly1153Arg)
c.3133G>C (p.Gly1045Arg)
c.1030G>C (p.Gly344Arg)
c.3472G>C (p.Gly1158Arg)
c.1792G>C (p.Gly598Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666498G=CA2450712312COL4A5c.3457G= (p.Gly1153=)
c.3133G= (p.Gly1045=)
c.1030G= (p.Gly344=)
c.3472G= (p.Gly1158=)
c.1792G= (p.Gly598=)
Xg.108666498G>TCA413847590COL4A5c.3457G>T (p.Gly1153Cys)
c.3133G>T (p.Gly1045Cys)
c.1030G>T (p.Gly344Cys)
c.3472G>T (p.Gly1158Cys)
c.1792G>T (p.Gly598Cys)
Xg.108666499delCA2739289607COL4A5c.3458del (p.Gly1153ValfsTer?)
c.3134del (p.Gly1045ValfsTer?)
c.1031del (p.Gly344ValfsTer?)
c.3473del (p.Gly1158ValfsTer?)
c.1793del (p.Gly598ValfsTer?)
Xg.108666499G>ACA413847593COL4A5c.3458G>A (p.Gly1153Asp)
c.3134G>A (p.Gly1045Asp)
c.1031G>A (p.Gly344Asp)
c.3473G>A (p.Gly1158Asp)
c.1793G>A (p.Gly598Asp)
 gnomAD v4
Xg.108666499G>CCA413847596COL4A5c.3458G>C (p.Gly1153Ala)
c.3134G>C (p.Gly1045Ala)
c.1031G>C (p.Gly344Ala)
c.3473G>C (p.Gly1158Ala)
c.1793G>C (p.Gly598Ala)
Xg.108666499G=CA2450712313COL4A5c.3458G= (p.Gly1153=)
c.3134G= (p.Gly1045=)
c.1031G= (p.Gly344=)
c.3473G= (p.Gly1158=)
c.1793G= (p.Gly598=)
Xg.108666499G>TCA413847598COL4A5c.3458G>T (p.Gly1153Val)
c.3134G>T (p.Gly1045Val)
c.1031G>T (p.Gly344Val)
c.3473G>T (p.Gly1158Val)
c.1793G>T (p.Gly598Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666500T>ACA517922314COL4A5c.3459T>A (p.Gly1153=)
c.3135T>A (p.Gly1045=)
c.1032T>A (p.Gly344=)
c.3474T>A (p.Gly1158=)
c.1794T>A (p.Gly598=)
Xg.108666500T>CCA517922313COL4A5c.3459T>C (p.Gly1153=)
c.3135T>C (p.Gly1045=)
c.1032T>C (p.Gly344=)
c.3474T>C (p.Gly1158=)
c.1794T>C (p.Gly598=)
Xg.108666500T>GCA517922312COL4A5c.3459T>G (p.Gly1153=)
c.3135T>G (p.Gly1045=)
c.1032T>G (p.Gly344=)
c.3474T>G (p.Gly1158=)
c.1794T>G (p.Gly598=)
Xg.108666501G>ACA413847602COL4A5c.3460G>A (p.Gly1154Arg)
c.3136G>A (p.Gly1046Arg)
c.1033G>A (p.Gly345Arg)
c.3475G>A (p.Gly1159Arg)
c.1795G>A (p.Gly599Arg)
 gnomAD v4
Xg.108666501G>CCA413847609COL4A5c.3460G>C (p.Gly1154Arg)
c.3136G>C (p.Gly1046Arg)
c.1033G>C (p.Gly345Arg)
c.3475G>C (p.Gly1159Arg)
c.1795G>C (p.Gly599Arg)
Xg.108666501G>TCA413847606COL4A5c.3460G>T (p.Gly1154Ter)
c.3136G>T (p.Gly1046Ter)
c.1033G>T (p.Gly345Ter)
c.3475G>T (p.Gly1159Ter)
c.1795G>T (p.Gly599Ter)
 ClinVar
Xg.108666502G>ACA413847611COL4A5c.3461G>A (p.Gly1154Glu)
c.3137G>A (p.Gly1046Glu)
c.1034G>A (p.Gly345Glu)
c.3476G>A (p.Gly1159Glu)
c.1796G>A (p.Gly599Glu)
 COSMIC
Xg.108666502G>CCA413847617COL4A5c.3461G>C (p.Gly1154Ala)
c.3137G>C (p.Gly1046Ala)
c.1034G>C (p.Gly345Ala)
c.3476G>C (p.Gly1159Ala)
c.1796G>C (p.Gly599Ala)
Xg.108666502G>TCA413847615COL4A5c.3461G>T (p.Gly1154Val)
c.3137G>T (p.Gly1046Val)
c.1034G>T (p.Gly345Val)
c.3476G>T (p.Gly1159Val)
c.1796G>T (p.Gly599Val)
Xg.108666503A>CCA517922315COL4A5c.3462A>C (p.Gly1154=)
c.3138A>C (p.Gly1046=)
c.1035A>C (p.Gly345=)
c.3477A>C (p.Gly1159=)
c.1797A>C (p.Gly599=)
Xg.108666503A>GCA517922316COL4A5c.3462A>G (p.Gly1154=)
c.3138A>G (p.Gly1046=)
c.1035A>G (p.Gly345=)
c.3477A>G (p.Gly1159=)
c.1797A>G (p.Gly599=)
Xg.108666503A>TCA517922317COL4A5c.3462A>T (p.Gly1154=)
c.3138A>T (p.Gly1046=)
c.1035A>T (p.Gly345=)
c.3477A>T (p.Gly1159=)
c.1797A>T (p.Gly599=)
Xg.108666504G>ACA413847620COL4A5c.3463G>A (p.Gly1155Ser)
c.3139G>A (p.Gly1047Ser)
c.1036G>A (p.Gly346Ser)
c.3478G>A (p.Gly1160Ser)
c.1798G>A (p.Gly600Ser)
Xg.108666504G>CCA413847627COL4A5c.3463G>C (p.Gly1155Arg)
c.3139G>C (p.Gly1047Arg)
c.1036G>C (p.Gly346Arg)
c.3478G>C (p.Gly1160Arg)
c.1798G>C (p.Gly600Arg)
Xg.108666504G>TCA413847624COL4A5c.3463G>T (p.Gly1155Cys)
c.3139G>T (p.Gly1047Cys)
c.1036G>T (p.Gly346Cys)
c.3478G>T (p.Gly1160Cys)
c.1798G>T (p.Gly600Cys)
 gnomAD v4
Xg.108666504_108666516delCA2695235646COL4A5c.3463_3475del (p.Gly1155AsnfsTer?)
c.3139_3151del (p.Gly1047AsnfsTer?)
c.1036_1048del (p.Gly346AsnfsTer?)
c.3478_3490del (p.Gly1160AsnfsTer?)
c.1798_1810del (p.Gly600AsnfsTer?)
Xg.108666505G>ACA413847631COL4A5c.3464G>A (p.Gly1155Asp)
c.3140G>A (p.Gly1047Asp)
c.1037G>A (p.Gly346Asp)
c.3479G>A (p.Gly1160Asp)
c.1799G>A (p.Gly600Asp)
Xg.108666505G>CCA413847635COL4A5c.3464G>C (p.Gly1155Ala)
c.3140G>C (p.Gly1047Ala)
c.1037G>C (p.Gly346Ala)
c.3479G>C (p.Gly1160Ala)
c.1799G>C (p.Gly600Ala)
Xg.108666505G>TCA413847638COL4A5c.3464G>T (p.Gly1155Val)
c.3140G>T (p.Gly1047Val)
c.1037G>T (p.Gly346Val)
c.3479G>T (p.Gly1160Val)
c.1799G>T (p.Gly600Val)
 gnomAD v4
Xg.108666506T>ACA517922318COL4A5c.3465T>A (p.Gly1155=)
c.3141T>A (p.Gly1047=)
c.1038T>A (p.Gly346=)
c.3480T>A (p.Gly1160=)
c.1800T>A (p.Gly600=)
 gnomAD v4
Xg.108666506T>CCA517922319COL4A5c.3465T>C (p.Gly1155=)
c.3141T>C (p.Gly1047=)
c.1038T>C (p.Gly346=)
c.3480T>C (p.Gly1160=)
c.1800T>C (p.Gly600=)
Xg.108666506T>GCA517922320COL4A5c.3465T>G (p.Gly1155=)
c.3141T>G (p.Gly1047=)
c.1038T>G (p.Gly346=)
c.3480T>G (p.Gly1160=)
c.1800T>G (p.Gly600=)
Xg.108666507C>ACA413847642COL4A5c.3466C>A (p.His1156Asn)
c.3142C>A (p.His1048Asn)
c.1039C>A (p.His347Asn)
c.3481C>A (p.His1161Asn)
c.1801C>A (p.His601Asn)
Xg.108666507C>GCA413847645COL4A5c.3466C>G (p.His1156Asp)
c.3142C>G (p.His1048Asp)
c.1039C>G (p.His347Asp)
c.3481C>G (p.His1161Asp)
c.1801C>G (p.His601Asp)
Xg.108666507C>TCA413847648COL4A5c.3466C>T (p.His1156Tyr)
c.3142C>T (p.His1048Tyr)
c.1039C>T (p.His347Tyr)
c.3481C>T (p.His1161Tyr)
c.1801C>T (p.His601Tyr)
Xg.108666508A>CCA413847652COL4A5c.3467A>C (p.His1156Pro)
c.3143A>C (p.His1048Pro)
c.1040A>C (p.His347Pro)
c.3482A>C (p.His1161Pro)
c.1802A>C (p.His601Pro)
Xg.108666508A>GCA413847654COL4A5c.3467A>G (p.His1156Arg)
c.3143A>G (p.His1048Arg)
c.1040A>G (p.His347Arg)
c.3482A>G (p.His1161Arg)
c.1802A>G (p.His601Arg)
Xg.108666508A>TCA413847656COL4A5c.3467A>T (p.His1156Leu)
c.3143A>T (p.His1048Leu)
c.1040A>T (p.His347Leu)
c.3482A>T (p.His1161Leu)
c.1802A>T (p.His601Leu)
Xg.108666509T>ACA413847658COL4A5c.3468T>A (p.His1156Gln)
c.3144T>A (p.His1048Gln)
c.1041T>A (p.His347Gln)
c.3483T>A (p.His1161Gln)
c.1803T>A (p.His601Gln)
Xg.108666509T>CCA10489121COL4A5c.3468T>C (p.His1156=)
c.3144T>C (p.His1048=)
c.1041T>C (p.His347=)
c.3483T>C (p.His1161=)
c.1803T>C (p.His601=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666509T>GCA413847661COL4A5c.3468T>G (p.His1156Gln)
c.3144T>G (p.His1048Gln)
c.1041T>G (p.His347Gln)
c.3483T>G (p.His1161Gln)
c.1803T>G (p.His601Gln)
Xg.108666509T=CA2450712314COL4A5c.3468T= (p.His1156=)
c.3144T= (p.His1048=)
c.1041T= (p.His347=)
c.3483T= (p.His1161=)
c.1803T= (p.His601=)
Xg.108666510C>ACA413847668COL4A5c.3469C>A (p.Pro1157Thr)
c.3145C>A (p.Pro1049Thr)
c.1042C>A (p.Pro348Thr)
c.3484C>A (p.Pro1162Thr)
c.1804C>A (p.Pro602Thr)
 gnomAD v4
Xg.108666510C=CA2450712315COL4A5c.3469C= (p.Pro1157=)
c.3145C= (p.Pro1049=)
c.1042C= (p.Pro348=)
c.3484C= (p.Pro1162=)
c.1804C= (p.Pro602=)
Xg.108666510C>GCA413847664COL4A5c.3469C>G (p.Pro1157Ala)
c.3145C>G (p.Pro1049Ala)
c.1042C>G (p.Pro348Ala)
c.3484C>G (p.Pro1162Ala)
c.1804C>G (p.Pro602Ala)
Xg.108666510C>TCA334045624COL4A5c.3469C>T (p.Pro1157Ser)
c.3145C>T (p.Pro1049Ser)
c.1042C>T (p.Pro348Ser)
c.3484C>T (p.Pro1162Ser)
c.1804C>T (p.Pro602Ser)
 dbSNP gnomAD v2
Xg.108666511C>ACA413847670COL4A5c.3470C>A (p.Pro1157His)
c.3146C>A (p.Pro1049His)
c.1043C>A (p.Pro348His)
c.3485C>A (p.Pro1162His)
c.1805C>A (p.Pro602His)
 gnomAD v4 COSMIC COSMIC
Xg.108666511C>GCA413847672COL4A5c.3470C>G (p.Pro1157Arg)
c.3146C>G (p.Pro1049Arg)
c.1043C>G (p.Pro348Arg)
c.3485C>G (p.Pro1162Arg)
c.1805C>G (p.Pro602Arg)
Xg.108666511C>TCA413847674COL4A5c.3470C>T (p.Pro1157Leu)
c.3146C>T (p.Pro1049Leu)
c.1043C>T (p.Pro348Leu)
c.3485C>T (p.Pro1162Leu)
c.1805C>T (p.Pro602Leu)
Xg.108666512T>ACA517922321COL4A5c.3471T>A (p.Pro1157=)
c.3147T>A (p.Pro1049=)
c.1044T>A (p.Pro348=)
c.3486T>A (p.Pro1162=)
c.1806T>A (p.Pro602=)
Xg.108666512T>CCA517922322COL4A5c.3471T>C (p.Pro1157=)
c.3147T>C (p.Pro1049=)
c.1044T>C (p.Pro348=)
c.3486T>C (p.Pro1162=)
c.1806T>C (p.Pro602=)
Xg.108666512T>GCA517922323COL4A5c.3471T>G (p.Pro1157=)
c.3147T>G (p.Pro1049=)
c.1044T>G (p.Pro348=)
c.3486T>G (p.Pro1162=)
c.1806T>G (p.Pro602=)
Xg.108666512_108666513delinsTGCA2450712316COL4A5c.3471_3472delinsTG (p.Pro1157=)
c.3147_3148delinsTG (p.Pro1049=)
c.1044_1045delinsTG (p.Pro348=)
c.3486_3487delinsTG (p.Pro1162=)
c.1806_1807delinsTG (p.Pro602=)
Xg.108666513G>ACA413847677COL4A5c.3472G>A (p.Gly1158Arg)
c.3148G>A (p.Gly1050Arg)
c.1045G>A (p.Gly349Arg)
c.3487G>A (p.Gly1163Arg)
c.1807G>A (p.Gly603Arg)
Xg.108666513G>CCA413847679COL4A5c.3472G>C (p.Gly1158Arg)
c.3148G>C (p.Gly1050Arg)
c.1045G>C (p.Gly349Arg)
c.3487G>C (p.Gly1163Arg)
c.1807G>C (p.Gly603Arg)
Xg.108666513G=CA2450712317COL4A5c.3472G= (p.Gly1158=)
c.3148G= (p.Gly1050=)
c.1045G= (p.Gly349=)
c.3487G= (p.Gly1163=)
c.1807G= (p.Gly603=)
Xg.108666513G>TCA258869COL4A5c.3472G>T (p.Gly1158Trp)
c.3148G>T (p.Gly1050Trp)
c.1045G>T (p.Gly349Trp)
c.3487G>T (p.Gly1163Trp)
c.1807G>T (p.Gly603Trp)
 dbSNP gnomAD v4
Xg.108666515delCA258873COL4A5c.3474del (p.Gln1159AsnfsTer?)
c.3150del (p.Gln1051AsnfsTer?)
c.1047del (p.Gln350AsnfsTer?)
c.3489del (p.Gln1164AsnfsTer?)
c.1809del (p.Gln604AsnfsTer?)
 dbSNP
Xg.108666514G>ACA413847683COL4A5c.3473G>A (p.Gly1158Glu)
c.3149G>A (p.Gly1050Glu)
c.1046G>A (p.Gly349Glu)
c.3488G>A (p.Gly1163Glu)
c.1808G>A (p.Gly603Glu)
 ClinVar dbSNP gnomAD v4
Xg.108666514G>CCA413847685COL4A5c.3473G>C (p.Gly1158Ala)
c.3149G>C (p.Gly1050Ala)
c.1046G>C (p.Gly349Ala)
c.3488G>C (p.Gly1163Ala)
c.1808G>C (p.Gly603Ala)
Xg.108666514G=CA2450712318COL4A5c.3473G= (p.Gly1158=)
c.3149G= (p.Gly1050=)
c.1046G= (p.Gly349=)
c.3488G= (p.Gly1163=)
c.1808G= (p.Gly603=)
Xg.108666514G>TCA413847687COL4A5c.3473G>T (p.Gly1158Val)
c.3149G>T (p.Gly1050Val)
c.1046G>T (p.Gly349Val)
c.3488G>T (p.Gly1163Val)
c.1808G>T (p.Gly603Val)
 gnomAD v4
Xg.108666514_108666515insTCA517922324COL4A5c.3473_3474insT (p.Gln1159AlafsTer25)
c.3149_3150insT (p.Gln1051AlafsTer25)
c.1046_1047insT (p.Gln350AlafsTer25)
c.3488_3489insT (p.Gln1164AlafsTer25)
c.1808_1809insT (p.Gln604AlafsTer25)
Xg.108666515G>ACA517922325COL4A5c.3474G>A (p.Gly1158=)
c.3150G>A (p.Gly1050=)
c.1047G>A (p.Gly349=)
c.3489G>A (p.Gly1163=)
c.1809G>A (p.Gly603=)
 gnomAD v4 COSMIC COSMIC
Xg.108666515G>CCA517922326COL4A5c.3474G>C (p.Gly1158=)
c.3150G>C (p.Gly1050=)
c.1047G>C (p.Gly349=)
c.3489G>C (p.Gly1163=)
c.1809G>C (p.Gly603=)
Xg.108666515G>TCA517922327COL4A5c.3474G>T (p.Gly1158=)
c.3150G>T (p.Gly1050=)
c.1047G>T (p.Gly349=)
c.3489G>T (p.Gly1163=)
c.1809G>T (p.Gly603=)
Xg.108666516C>ACA413847694COL4A5c.3475C>A (p.Gln1159Lys)
c.3151C>A (p.Gln1051Lys)
c.1048C>A (p.Gln350Lys)
c.3490C>A (p.Gln1164Lys)
c.1810C>A (p.Gln604Lys)
Xg.108666516C=CA2450712319COL4A5c.3475C= (p.Gln1159=)
c.3151C= (p.Gln1051=)
c.1048C= (p.Gln350=)
c.3490C= (p.Gln1164=)
c.1810C= (p.Gln604=)
Xg.108666516C>GCA413847692COL4A5c.3475C>G (p.Gln1159Glu)
c.3151C>G (p.Gln1051Glu)
c.1048C>G (p.Gln350Glu)
c.3490C>G (p.Gln1164Glu)
c.1810C>G (p.Gln604Glu)
Xg.108666516C>TCA413847690COL4A5c.3475C>T (p.Gln1159Ter)
c.3151C>T (p.Gln1051Ter)
c.1048C>T (p.Gln350Ter)
c.3490C>T (p.Gln1164Ter)
c.1810C>T (p.Gln604Ter)
 ClinVar dbSNP
Xg.108666517A=CA2450712320COL4A5c.3476A= (p.Gln1159=)
c.3152A= (p.Gln1051=)
c.1049A= (p.Gln350=)
c.3491A= (p.Gln1164=)
c.1811A= (p.Gln604=)
Xg.108666517A>CCA413847696COL4A5c.3476A>C (p.Gln1159Pro)
c.3152A>C (p.Gln1051Pro)
c.1049A>C (p.Gln350Pro)
c.3491A>C (p.Gln1164Pro)
c.1811A>C (p.Gln604Pro)
Xg.108666517A>GCA413847698COL4A5c.3476A>G (p.Gln1159Arg)
c.3152A>G (p.Gln1051Arg)
c.1049A>G (p.Gln350Arg)
c.3491A>G (p.Gln1164Arg)
c.1811A>G (p.Gln604Arg)
 dbSNP gnomAD v4
Xg.108666517A>TCA413847699COL4A5c.3476A>T (p.Gln1159Leu)
c.3152A>T (p.Gln1051Leu)
c.1049A>T (p.Gln350Leu)
c.3491A>T (p.Gln1164Leu)
c.1811A>T (p.Gln604Leu)
Xg.108666517_108666518delCA517922328COL4A5c.3476_3477del (p.Gln1159ProfsTer24)
c.3152_3153del (p.Gln1051ProfsTer24)
c.1049_1050del (p.Gln350ProfsTer24)
c.3491_3492del (p.Gln1164ProfsTer24)
c.1811_1812del (p.Gln604ProfsTer24)
Xg.108666518A>CCA413847701COL4A5c.3477A>C (p.Gln1159His)
c.3153A>C (p.Gln1051His)
c.1050A>C (p.Gln350His)
c.3492A>C (p.Gln1164His)
c.1812A>C (p.Gln604His)
Xg.108666518A>GCA517922329COL4A5c.3477A>G (p.Gln1159=)
c.3153A>G (p.Gln1051=)
c.1050A>G (p.Gln350=)
c.3492A>G (p.Gln1164=)
c.1812A>G (p.Gln604=)
Xg.108666518A>TCA413847703COL4A5c.3477A>T (p.Gln1159His)
c.3153A>T (p.Gln1051His)
c.1050A>T (p.Gln350His)
c.3492A>T (p.Gln1164His)
c.1812A>T (p.Gln604His)
Xg.108666519C>ACA413847705COL4A5c.3478C>A (p.Pro1160Thr)
c.3154C>A (p.Pro1052Thr)
c.1051C>A (p.Pro351Thr)
c.3493C>A (p.Pro1165Thr)
c.1813C>A (p.Pro605Thr)
Xg.108666519C=CA2450712321COL4A5c.3478C= (p.Pro1160=)
c.3154C= (p.Pro1052=)
c.1051C= (p.Pro351=)
c.3493C= (p.Pro1165=)
c.1813C= (p.Pro605=)
Xg.108666519C>GCA413847707COL4A5c.3478C>G (p.Pro1160Ala)
c.3154C>G (p.Pro1052Ala)
c.1051C>G (p.Pro351Ala)
c.3493C>G (p.Pro1165Ala)
c.1813C>G (p.Pro605Ala)
Xg.108666519C>TCA413847709COL4A5c.3478C>T (p.Pro1160Ser)
c.3154C>T (p.Pro1052Ser)
c.1051C>T (p.Pro351Ser)
c.3493C>T (p.Pro1165Ser)
c.1813C>T (p.Pro605Ser)
 dbSNP
Xg.108666519_108666520insGCA517922330COL4A5c.3478_3479insG (p.Pro1160ArgfsTer24)
c.3154_3155insG (p.Pro1052ArgfsTer24)
c.1051_1052insG (p.Pro351ArgfsTer24)
c.3493_3494insG (p.Pro1165ArgfsTer24)
c.1813_1814insG (p.Pro605ArgfsTer24)
Xg.108666520C>ACA413847712COL4A5c.3479C>A (p.Pro1160Gln)
c.3155C>A (p.Pro1052Gln)
c.1052C>A (p.Pro351Gln)
c.3494C>A (p.Pro1165Gln)
c.1814C>A (p.Pro605Gln)
Xg.108666520C=CA2450712322COL4A5c.3479C= (p.Pro1160=)
c.3155C= (p.Pro1052=)
c.1052C= (p.Pro351=)
c.3494C= (p.Pro1165=)
c.1814C= (p.Pro605=)
Xg.108666520C>GCA413847714COL4A5c.3479C>G (p.Pro1160Arg)
c.3155C>G (p.Pro1052Arg)
c.1052C>G (p.Pro351Arg)
c.3494C>G (p.Pro1165Arg)
c.1814C>G (p.Pro605Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666520C>TCA413847715COL4A5c.3479C>T (p.Pro1160Leu)
c.3155C>T (p.Pro1052Leu)
c.1052C>T (p.Pro351Leu)
c.3494C>T (p.Pro1165Leu)
c.1814C>T (p.Pro605Leu)
Xg.108666521A>CCA517922331COL4A5c.3480A>C (p.Pro1160=)
c.3156A>C (p.Pro1052=)
c.1053A>C (p.Pro351=)
c.3495A>C (p.Pro1165=)
c.1815A>C (p.Pro605=)
Xg.108666521A>GCA517922332COL4A5c.3480A>G (p.Pro1160=)
c.3156A>G (p.Pro1052=)
c.1053A>G (p.Pro351=)
c.3495A>G (p.Pro1165=)
c.1815A>G (p.Pro605=)
Xg.108666521A>TCA517922333COL4A5c.3480A>T (p.Pro1160=)
c.3156A>T (p.Pro1052=)
c.1053A>T (p.Pro351=)
c.3495A>T (p.Pro1165=)
c.1815A>T (p.Pro605=)
Xg.108666522G>ACA258874COL4A5c.3481G>A (p.Gly1161Arg)
c.3157G>A (p.Gly1053Arg)
c.1054G>A (p.Gly352Arg)
c.3496G>A (p.Gly1166Arg)
c.1816G>A (p.Gly606Arg)
 ClinVar dbSNP gnomAD v4
Xg.108666522G>CCA413847717COL4A5c.3481G>C (p.Gly1161Arg)
c.3157G>C (p.Gly1053Arg)
c.1054G>C (p.Gly352Arg)
c.3496G>C (p.Gly1166Arg)
c.1816G>C (p.Gly606Arg)
 ClinVar dbSNP
Xg.108666522G=CA2450712323COL4A5c.3481G= (p.Gly1161=)
c.3157G= (p.Gly1053=)
c.1054G= (p.Gly352=)
c.3496G= (p.Gly1166=)
c.1816G= (p.Gly606=)
Xg.108666522G>TCA413847716COL4A5c.3481G>T (p.Gly1161Trp)
c.3157G>T (p.Gly1053Trp)
c.1054G>T (p.Gly352Trp)
c.3496G>T (p.Gly1166Trp)
c.1816G>T (p.Gly606Trp)
 gnomAD v4
Xg.108666523G>ACA413847718COL4A5c.3482G>A (p.Gly1161Glu)
c.3158G>A (p.Gly1053Glu)
c.1055G>A (p.Gly352Glu)
c.3497G>A (p.Gly1166Glu)
c.1817G>A (p.Gly606Glu)
 ClinVar dbSNP
Xg.108666523G>CCA413847719COL4A5c.3482G>C (p.Gly1161Ala)
c.3158G>C (p.Gly1053Ala)
c.1055G>C (p.Gly352Ala)
c.3497G>C (p.Gly1166Ala)
c.1817G>C (p.Gly606Ala)
Xg.108666523G=CA2450712324COL4A5c.3482G= (p.Gly1161=)
c.3158G= (p.Gly1053=)
c.1055G= (p.Gly352=)
c.3497G= (p.Gly1166=)
c.1817G= (p.Gly606=)
Xg.108666523G>TCA413847720COL4A5c.3482G>T (p.Gly1161Val)
c.3158G>T (p.Gly1053Val)
c.1055G>T (p.Gly352Val)
c.3497G>T (p.Gly1166Val)
c.1817G>T (p.Gly606Val)
 gnomAD v4
Xg.108666524G>ACA517922334COL4A5c.3483G>A (p.Gly1161=)
c.3159G>A (p.Gly1053=)
c.1056G>A (p.Gly352=)
c.3498G>A (p.Gly1166=)
c.1818G>A (p.Gly606=)
 gnomAD v4
Xg.108666524G>CCA517922335COL4A5c.3483G>C (p.Gly1161=)
c.3159G>C (p.Gly1053=)
c.1056G>C (p.Gly352=)
c.3498G>C (p.Gly1166=)
c.1818G>C (p.Gly606=)
Xg.108666524G>TCA517922336COL4A5c.3483G>T (p.Gly1161=)
c.3159G>T (p.Gly1053=)
c.1056G>T (p.Gly352=)
c.3498G>T (p.Gly1166=)
c.1818G>T (p.Gly606=)
Xg.108666524_108666525insTTCA517922337COL4A5c.3483_3484insTT (p.Pro1162PhefsTer?)
c.3159_3160insTT (p.Pro1054PhefsTer?)
c.1056_1057insTT (p.Pro353PhefsTer?)
c.3498_3499insTT (p.Pro1167PhefsTer?)
c.1818_1819insTT (p.Pro607PhefsTer?)
Xg.108666525C>ACA413847721COL4A5c.3484C>A (p.Pro1162Thr)
c.3160C>A (p.Pro1054Thr)
c.1057C>A (p.Pro353Thr)
c.3499C>A (p.Pro1167Thr)
c.1819C>A (p.Pro607Thr)
 gnomAD v4
Xg.108666525C>GCA413847722COL4A5c.3484C>G (p.Pro1162Ala)
c.3160C>G (p.Pro1054Ala)
c.1057C>G (p.Pro353Ala)
c.3499C>G (p.Pro1167Ala)
c.1819C>G (p.Pro607Ala)
Xg.108666525C>TCA413847723COL4A5c.3484C>T (p.Pro1162Ser)
c.3160C>T (p.Pro1054Ser)
c.1057C>T (p.Pro353Ser)
c.3499C>T (p.Pro1167Ser)
c.1819C>T (p.Pro607Ser)
Xg.108666525_108666526insTGCA517922338COL4A5c.3484_3485insTG (p.Pro1162LeufsTer?)
c.3160_3161insTG (p.Pro1054LeufsTer?)
c.1057_1058insTG (p.Pro353LeufsTer?)
c.3499_3500insTG (p.Pro1167LeufsTer?)
c.1819_1820insTG (p.Pro607LeufsTer?)
Xg.108666526C>ACA413847724COL4A5c.3485C>A (p.Pro1162His)
c.3161C>A (p.Pro1054His)
c.1058C>A (p.Pro353His)
c.3500C>A (p.Pro1167His)
c.1820C>A (p.Pro607His)
 gnomAD v4
Xg.108666526C>GCA413847725COL4A5c.3485C>G (p.Pro1162Arg)
c.3161C>G (p.Pro1054Arg)
c.1058C>G (p.Pro353Arg)
c.3500C>G (p.Pro1167Arg)
c.1820C>G (p.Pro607Arg)
Xg.108666526C>TCA413847726COL4A5c.3485C>T (p.Pro1162Leu)
c.3161C>T (p.Pro1054Leu)
c.1058C>T (p.Pro353Leu)
c.3500C>T (p.Pro1167Leu)
c.1820C>T (p.Pro607Leu)
Xg.108666527T>ACA517922339COL4A5c.3486T>A (p.Pro1162=)
c.3162T>A (p.Pro1054=)
c.1059T>A (p.Pro353=)
c.3501T>A (p.Pro1167=)
c.1821T>A (p.Pro607=)
Xg.108666527T>CCA517922340COL4A5c.3486T>C (p.Pro1162=)
c.3162T>C (p.Pro1054=)
c.1059T>C (p.Pro353=)
c.3501T>C (p.Pro1167=)
c.1821T>C (p.Pro607=)
 gnomAD v4
Xg.108666527T>GCA517922341COL4A5c.3486T>G (p.Pro1162=)
c.3162T>G (p.Pro1054=)
c.1059T>G (p.Pro353=)
c.3501T>G (p.Pro1167=)
c.1821T>G (p.Pro607=)
Xg.108666527_108666529delinsTCCCA2450712325COL4A5c.3486_3488delinsTCC (p.Pro1162=)
c.3162_3164delinsTCC (p.Pro1054=)
c.1059_1061delinsTCC (p.Pro353=)
c.3501_3503delinsTCC (p.Pro1167=)
c.1821_1823delinsTCC (p.Pro607=)
Xg.108666528C>ACA413847727COL4A5c.3487C>A (p.Pro1163Thr)
c.3163C>A (p.Pro1055Thr)
c.1060C>A (p.Pro354Thr)
c.3502C>A (p.Pro1168Thr)
c.1822C>A (p.Pro608Thr)
Xg.108666528C>GCA413847728COL4A5c.3487C>G (p.Pro1163Ala)
c.3163C>G (p.Pro1055Ala)
c.1060C>G (p.Pro354Ala)
c.3502C>G (p.Pro1168Ala)
c.1822C>G (p.Pro608Ala)
Xg.108666528C>TCA413847729COL4A5c.3487C>T (p.Pro1163Ser)
c.3163C>T (p.Pro1055Ser)
c.1060C>T (p.Pro354Ser)
c.3502C>T (p.Pro1168Ser)
c.1822C>T (p.Pro608Ser)
Xg.108666528_108666529delCA2508957337COL4A5c.3487_3488del (p.Pro1163ArgfsTer20)
c.3163_3164del (p.Pro1055ArgfsTer20)
c.1060_1061del (p.Pro354ArgfsTer20)
c.3502_3503del (p.Pro1168ArgfsTer20)
c.1822_1823del (p.Pro608ArgfsTer20)
Xg.108666528_108666529delinsGCA10654931COL4A5c.3487_3488delinsG (p.Pro1163GlufsTer?)
c.3163_3164delinsG (p.Pro1055GlufsTer?)
c.1060_1061delinsG (p.Pro354GlufsTer?)
c.3502_3503delinsG (p.Pro1168GlufsTer?)
c.1822_1823delinsG (p.Pro608GlufsTer?)
 ClinVar dbSNP
Xg.108666529delCA2580100161COL4A5c.3488del (p.Pro1163GlnfsTer?)
c.3164del (p.Pro1055GlnfsTer?)
c.1061del (p.Pro354GlnfsTer?)
c.3503del (p.Pro1168GlnfsTer?)
c.1823del (p.Pro608GlnfsTer?)
 ClinVar
Xg.108666528_108666529insAACA517922342COL4A5c.3487_3488insAA (p.Pro1163GlnfsTer?)
c.3163_3164insAA (p.Pro1055GlnfsTer?)
c.1060_1061insAA (p.Pro354GlnfsTer?)
c.3502_3503insAA (p.Pro1168GlnfsTer?)
c.1822_1823insAA (p.Pro608GlnfsTer?)
Xg.108666529C>ACA413847731COL4A5c.3488C>A (p.Pro1163Gln)
c.3164C>A (p.Pro1055Gln)
c.1061C>A (p.Pro354Gln)
c.3503C>A (p.Pro1168Gln)
c.1823C>A (p.Pro608Gln)
 gnomAD v4
Xg.108666529C=CA2450712326COL4A5c.3488C= (p.Pro1163=)
c.3164C= (p.Pro1055=)
c.1061C= (p.Pro354=)
c.3503C= (p.Pro1168=)
c.1823C= (p.Pro608=)
Xg.108666529C>GCA413847730COL4A5c.3488C>G (p.Pro1163Arg)
c.3164C>G (p.Pro1055Arg)
c.1061C>G (p.Pro354Arg)
c.3503C>G (p.Pro1168Arg)
c.1823C>G (p.Pro608Arg)
Xg.108666529C>TCA10489122COL4A5c.3488C>T (p.Pro1163Leu)
c.3164C>T (p.Pro1055Leu)
c.1061C>T (p.Pro354Leu)
c.3503C>T (p.Pro1168Leu)
c.1823C>T (p.Pro608Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666530A>CCA517922343COL4A5c.3489A>C (p.Pro1163=)
c.3165A>C (p.Pro1055=)
c.1062A>C (p.Pro354=)
c.3504A>C (p.Pro1168=)
c.1824A>C (p.Pro608=)
Xg.108666530A>GCA517922344COL4A5c.3489A>G (p.Pro1163=)
c.3165A>G (p.Pro1055=)
c.1062A>G (p.Pro354=)
c.3504A>G (p.Pro1168=)
c.1824A>G (p.Pro608=)
Xg.108666530A>TCA517922345COL4A5c.3489A>T (p.Pro1163=)
c.3165A>T (p.Pro1055=)
c.1062A>T (p.Pro354=)
c.3504A>T (p.Pro1168=)
c.1824A>T (p.Pro608=)
Xg.108666531G>ACA413847733COL4A5c.3490G>A (p.Gly1164Ser)
c.3166G>A (p.Gly1056Ser)
c.1063G>A (p.Gly355Ser)
c.3505G>A (p.Gly1169Ser)
c.1825G>A (p.Gly609Ser)
 gnomAD v4
Xg.108666531G>CCA413847732COL4A5c.3490G>C (p.Gly1164Arg)
c.3166G>C (p.Gly1056Arg)
c.1063G>C (p.Gly355Arg)
c.3505G>C (p.Gly1169Arg)
c.1825G>C (p.Gly609Arg)
Xg.108666531G=CA2450712327COL4A5c.3490G= (p.Gly1164=)
c.3166G= (p.Gly1056=)
c.1063G= (p.Gly355=)
c.3505G= (p.Gly1169=)
c.1825G= (p.Gly609=)
Xg.108666531G>TCA16043193COL4A5c.3490G>T (p.Gly1164Cys)
c.3166G>T (p.Gly1056Cys)
c.1063G>T (p.Gly355Cys)
c.3505G>T (p.Gly1169Cys)
c.1825G>T (p.Gly609Cys)
 ClinVar dbSNP
Xg.108666532_108666534delCA517922346COL4A5c.3491_3493del (p.Gly1164del)
c.3167_3169del (p.Gly1056del)
c.1064_1066del (p.Gly355del)
c.3506_3508del (p.Gly1169del)
c.1826_1828del (p.Gly609del)
Xg.108666532G>ACA413847734COL4A5c.3491G>A (p.Gly1164Asp)
c.3167G>A (p.Gly1056Asp)
c.1064G>A (p.Gly355Asp)
c.3506G>A (p.Gly1169Asp)
c.1826G>A (p.Gly609Asp)
 ClinVar dbSNP
Xg.108666532G>CCA413847735COL4A5c.3491G>C (p.Gly1164Ala)
c.3167G>C (p.Gly1056Ala)
c.1064G>C (p.Gly355Ala)
c.3506G>C (p.Gly1169Ala)
c.1826G>C (p.Gly609Ala)
Xg.108666532G>TCA413847736COL4A5c.3491G>T (p.Gly1164Val)
c.3167G>T (p.Gly1056Val)
c.1064G>T (p.Gly355Val)
c.3506G>T (p.Gly1169Val)
c.1826G>T (p.Gly609Val)
Xg.108666533C>ACA517922347COL4A5c.3492C>A (p.Gly1164=)
c.3168C>A (p.Gly1056=)
c.1065C>A (p.Gly355=)
c.3507C>A (p.Gly1169=)
c.1827C>A (p.Gly609=)
 ClinVar dbSNP gnomAD v4
Xg.108666533C=CA2450712328COL4A5c.3492C= (p.Gly1164=)
c.3168C= (p.Gly1056=)
c.1065C= (p.Gly355=)
c.3507C= (p.Gly1169=)
c.1827C= (p.Gly609=)
Xg.108666533C>GCA517922348COL4A5c.3492C>G (p.Gly1164=)
c.3168C>G (p.Gly1056=)
c.1065C>G (p.Gly355=)
c.3507C>G (p.Gly1169=)
c.1827C>G (p.Gly609=)
Xg.108666533C>TCA334045709COL4A5c.3492C>T (p.Gly1164=)
c.3168C>T (p.Gly1056=)
c.1065C>T (p.Gly355=)
c.3507C>T (p.Gly1169=)
c.1827C>T (p.Gly609=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666534G>ACA10489123COL4A5c.3493G>A (p.Glu1165Lys)
c.3169G>A (p.Glu1057Lys)
c.1066G>A (p.Glu356Lys)
c.3508G>A (p.Glu1170Lys)
c.1828G>A (p.Glu610Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108666534G>CCA413847737COL4A5c.3493G>C (p.Glu1165Gln)
c.3169G>C (p.Glu1057Gln)
c.1066G>C (p.Glu356Gln)
c.3508G>C (p.Glu1170Gln)
c.1828G>C (p.Glu610Gln)
Xg.108666534G=CA2450712329COL4A5c.3493G= (p.Glu1165=)
c.3169G= (p.Glu1057=)
c.1066G= (p.Glu356=)
c.3508G= (p.Glu1170=)
c.1828G= (p.Glu610=)
Xg.108666534G>TCA413847738COL4A5c.3493G>T (p.Glu1165Ter)
c.3169G>T (p.Glu1057Ter)
c.1066G>T (p.Glu356Ter)
c.3508G>T (p.Glu1170Ter)
c.1828G>T (p.Glu610Ter)
Xg.108666535A>CCA413847739COL4A5c.3494A>C (p.Glu1165Ala)
c.3170A>C (p.Glu1057Ala)
c.1067A>C (p.Glu356Ala)
c.3509A>C (p.Glu1170Ala)
c.1829A>C (p.Glu610Ala)
Xg.108666535A>GCA413847740COL4A5c.3494A>G (p.Glu1165Gly)
c.3170A>G (p.Glu1057Gly)
c.1067A>G (p.Glu356Gly)
c.3509A>G (p.Glu1170Gly)
c.1829A>G (p.Glu610Gly)
 gnomAD v4
Xg.108666535A>TCA413847741COL4A5c.3494A>T (p.Glu1165Val)
c.3170A>T (p.Glu1057Val)
c.1067A>T (p.Glu356Val)
c.3509A>T (p.Glu1170Val)
c.1829A>T (p.Glu610Val)
Xg.108666539delCA643636642COL4A5c.3498del (p.Gly1167AlafsTer?)
c.3174del (p.Gly1059AlafsTer?)
c.1071del (p.Gly358AlafsTer?)
c.3513del (p.Gly1172AlafsTer?)
c.1833del (p.Gly612AlafsTer?)
 gnomAD v2 gnomAD v4
Xg.108666536A>CCA413847742COL4A5c.3495A>C (p.Glu1165Asp)
c.3171A>C (p.Glu1057Asp)
c.1068A>C (p.Glu356Asp)
c.3510A>C (p.Glu1170Asp)
c.1830A>C (p.Glu610Asp)
Xg.108666536A>GCA517922349COL4A5c.3495A>G (p.Glu1165=)
c.3171A>G (p.Glu1057=)
c.1068A>G (p.Glu356=)
c.3510A>G (p.Glu1170=)
c.1830A>G (p.Glu610=)
Xg.108666536A>TCA413847743COL4A5c.3495A>T (p.Glu1165Asp)
c.3171A>T (p.Glu1057Asp)
c.1068A>T (p.Glu356Asp)
c.3510A>T (p.Glu1170Asp)
c.1830A>T (p.Glu610Asp)
 COSMIC COSMIC
Xg.108666537A=CA2450712330COL4A5c.3496A= (p.Lys1166=)
c.3172A= (p.Lys1058=)
c.1069A= (p.Lys357=)
c.3511A= (p.Lys1171=)
c.1831A= (p.Lys611=)
Xg.108666537A>CCA413847745COL4A5c.3496A>C (p.Lys1166Gln)
c.3172A>C (p.Lys1058Gln)
c.1069A>C (p.Lys357Gln)
c.3511A>C (p.Lys1171Gln)
c.1831A>C (p.Lys611Gln)
Xg.108666537A>GCA16621173COL4A5c.3496A>G (p.Lys1166Glu)
c.3172A>G (p.Lys1058Glu)
c.1069A>G (p.Lys357Glu)
c.3511A>G (p.Lys1171Glu)
c.1831A>G (p.Lys611Glu)
 ClinVar dbSNP gnomAD v4
Xg.108666537A>TCA413847744COL4A5c.3496A>T (p.Lys1166Ter)
c.3172A>T (p.Lys1058Ter)
c.1069A>T (p.Lys357Ter)
c.3511A>T (p.Lys1171Ter)
c.1831A>T (p.Lys611Ter)
Xg.108666540_108666545delCA2580100167COL4A5c.3499_3504del (p.Gly1167_Lys1168del)
c.3175_3180del (p.Gly1059_Lys1060del)
c.1072_1077del (p.Gly358_Lys359del)
c.3514_3519del (p.Gly1172_Lys1173del)
c.1834_1839del (p.Gly612_Lys613del)
 ClinVar
Xg.108666538A>CCA413847746COL4A5c.3497A>C (p.Lys1166Thr)
c.3173A>C (p.Lys1058Thr)
c.1070A>C (p.Lys357Thr)
c.3512A>C (p.Lys1171Thr)
c.1832A>C (p.Lys611Thr)
Xg.108666538A>GCA413847747COL4A5c.3497A>G (p.Lys1166Arg)
c.3173A>G (p.Lys1058Arg)
c.1070A>G (p.Lys357Arg)
c.3512A>G (p.Lys1171Arg)
c.1832A>G (p.Lys611Arg)
 gnomAD v4
Xg.108666538A>TCA413847748COL4A5c.3497A>T (p.Lys1166Ile)
c.3173A>T (p.Lys1058Ile)
c.1070A>T (p.Lys357Ile)
c.3512A>T (p.Lys1171Ile)
c.1832A>T (p.Lys611Ile)
Xg.108666538_108666539insTATCTCA517922354COL4A5c.3497_3498insTATCT (p.Lys1166AsnfsTer3)
c.3173_3174insTATCT (p.Lys1058AsnfsTer3)
c.1070_1071insTATCT (p.Lys357AsnfsTer3)
c.3512_3513insTATCT (p.Lys1171AsnfsTer3)
c.1832_1833insTATCT (p.Lys611AsnfsTer3)
Xg.108666539A=CA2450712331COL4A5c.3498A= (p.Lys1166=)
c.3174A= (p.Lys1058=)
c.1071A= (p.Lys357=)
c.3513A= (p.Lys1171=)
c.1833A= (p.Lys611=)
Xg.108666539A>CCA413847749COL4A5c.3498A>C (p.Lys1166Asn)
c.3174A>C (p.Lys1058Asn)
c.1071A>C (p.Lys357Asn)
c.3513A>C (p.Lys1171Asn)
c.1833A>C (p.Lys611Asn)
 gnomAD v4
Xg.108666539A>GCA517922353COL4A5c.3498A>G (p.Lys1166=)
c.3174A>G (p.Lys1058=)
c.1071A>G (p.Lys357=)
c.3513A>G (p.Lys1171=)
c.1833A>G (p.Lys611=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108666539A>TCA413847750COL4A5c.3498A>T (p.Lys1166Asn)
c.3174A>T (p.Lys1058Asn)
c.1071A>T (p.Lys357Asn)
c.3513A>T (p.Lys1171Asn)
c.1833A>T (p.Lys611Asn)
 gnomAD v4
Xg.108666540G>ACA258876COL4A5c.3499G>A (p.Gly1167Ser)
c.3175G>A (p.Gly1059Ser)
c.1072G>A (p.Gly358Ser)
c.3514G>A (p.Gly1172Ser)
c.1834G>A (p.Gly612Ser)
 ClinVar dbSNP
Xg.108666540G>CCA413847751COL4A5c.3499G>C (p.Gly1167Arg)
c.3175G>C (p.Gly1059Arg)
c.1072G>C (p.Gly358Arg)
c.3514G>C (p.Gly1172Arg)
c.1834G>C (p.Gly612Arg)
 gnomAD v4
Xg.108666540G=CA2450712332COL4A5c.3499G= (p.Gly1167=)
c.3175G= (p.Gly1059=)
c.1072G= (p.Gly358=)
c.3514G= (p.Gly1172=)
c.1834G= (p.Gly612=)
Xg.108666540G>TCA413847752COL4A5c.3499G>T (p.Gly1167Cys)
c.3175G>T (p.Gly1059Cys)
c.1072G>T (p.Gly358Cys)
c.3514G>T (p.Gly1172Cys)
c.1834G>T (p.Gly612Cys)
Xg.108666541G>ACA413847753COL4A5c.3500G>A (p.Gly1167Asp)
c.3176G>A (p.Gly1059Asp)
c.1073G>A (p.Gly358Asp)
c.3515G>A (p.Gly1172Asp)
c.1835G>A (p.Gly612Asp)
 ClinVar
Xg.108666541G>CCA413847754COL4A5c.3500G>C (p.Gly1167Ala)
c.3176G>C (p.Gly1059Ala)
c.1073G>C (p.Gly358Ala)
c.3515G>C (p.Gly1172Ala)
c.1835G>C (p.Gly612Ala)
Xg.108666541G>TCA413847755COL4A5c.3500G>T (p.Gly1167Val)
c.3176G>T (p.Gly1059Val)
c.1073G>T (p.Gly358Val)
c.3515G>T (p.Gly1172Val)
c.1835G>T (p.Gly612Val)
Xg.108666542C>ACA517922358COL4A5c.3501C>A (p.Gly1167=)
c.3177C>A (p.Gly1059=)
c.1074C>A (p.Gly358=)
c.3516C>A (p.Gly1172=)
c.1836C>A (p.Gly612=)
Xg.108666542C>GCA517922359COL4A5c.3501C>G (p.Gly1167=)
c.3177C>G (p.Gly1059=)
c.1074C>G (p.Gly358=)
c.3516C>G (p.Gly1172=)
c.1836C>G (p.Gly612=)
Xg.108666542C>TCA517922360COL4A5c.3501C>T (p.Gly1167=)
c.3177C>T (p.Gly1059=)
c.1074C>T (p.Gly358=)
c.3516C>T (p.Gly1172=)
c.1836C>T (p.Gly612=)
 gnomAD v4
Xg.108666543A>CCA413847756COL4A5c.3502A>C (p.Lys1168Gln)
c.3178A>C (p.Lys1060Gln)
c.1075A>C (p.Lys359Gln)
c.3517A>C (p.Lys1173Gln)
c.1837A>C (p.Lys613Gln)
 gnomAD v4
Xg.108666543A>GCA413847757COL4A5c.3502A>G (p.Lys1168Glu)
c.3178A>G (p.Lys1060Glu)
c.1075A>G (p.Lys359Glu)
c.3517A>G (p.Lys1173Glu)
c.1837A>G (p.Lys613Glu)
Xg.108666543A>TCA413847758COL4A5c.3502A>T (p.Lys1168Ter)
c.3178A>T (p.Lys1060Ter)
c.1075A>T (p.Lys359Ter)
c.3517A>T (p.Lys1173Ter)
c.1837A>T (p.Lys613Ter)
Xg.108666544A=CA2450712333COL4A5c.3503A= (p.Lys1168=)
c.3179A= (p.Lys1060=)
c.1076A= (p.Lys359=)
c.3518A= (p.Lys1173=)
c.1838A= (p.Lys613=)
Xg.108666544A>CCA413847760COL4A5c.3503A>C (p.Lys1168Thr)
c.3179A>C (p.Lys1060Thr)
c.1076A>C (p.Lys359Thr)
c.3518A>C (p.Lys1173Thr)
c.1838A>C (p.Lys613Thr)
Xg.108666544A>GCA413847761COL4A5c.3503A>G (p.Lys1168Arg)
c.3179A>G (p.Lys1060Arg)
c.1076A>G (p.Lys359Arg)
c.3518A>G (p.Lys1173Arg)
c.1838A>G (p.Lys613Arg)
Xg.108666544A>TCA413847759COL4A5c.3503A>T (p.Lys1168Ile)
c.3179A>T (p.Lys1060Ile)
c.1076A>T (p.Lys359Ile)
c.3518A>T (p.Lys1173Ile)
c.1838A>T (p.Lys613Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108666545A>CCA413847762COL4A5c.3504A>C (p.Lys1168Asn)
c.3180A>C (p.Lys1060Asn)
c.1077A>C (p.Lys359Asn)
c.3519A>C (p.Lys1173Asn)
c.1839A>C (p.Lys613Asn)
Xg.108666545A>GCA517922362COL4A5c.3504A>G (p.Lys1168=)
c.3180A>G (p.Lys1060=)
c.1077A>G (p.Lys359=)
c.3519A>G (p.Lys1173=)
c.1839A>G (p.Lys613=)
Xg.108666545A>TCA413847763COL4A5c.3504A>T (p.Lys1168Asn)
c.3180A>T (p.Lys1060Asn)
c.1077A>T (p.Lys359Asn)
c.3519A>T (p.Lys1173Asn)
c.1839A>T (p.Lys613Asn)
Xg.108666546_108666553delCA517922363COL4A5c.3505_3512del (p.Pro1169ArgfsTer12)
c.3181_3188del (p.Pro1061ArgfsTer12)
c.1078_1085del (p.Pro360ArgfsTer12)
c.3520_3527del (p.Pro1174ArgfsTer12)
c.1840_1847del (p.Pro614ArgfsTer12)
Xg.108666546C>ACA413847764COL4A5c.3505C>A (p.Pro1169Thr)
c.3181C>A (p.Pro1061Thr)
c.1078C>A (p.Pro360Thr)
c.3520C>A (p.Pro1174Thr)
c.1840C>A (p.Pro614Thr)
 gnomAD v4
Xg.108666546C>GCA413847765COL4A5c.3505C>G (p.Pro1169Ala)
c.3181C>G (p.Pro1061Ala)
c.1078C>G (p.Pro360Ala)
c.3520C>G (p.Pro1174Ala)
c.1840C>G (p.Pro614Ala)
Xg.108666546C>TCA413847766COL4A5c.3505C>T (p.Pro1169Ser)
c.3181C>T (p.Pro1061Ser)
c.1078C>T (p.Pro360Ser)
c.3520C>T (p.Pro1174Ser)
c.1840C>T (p.Pro614Ser)
 gnomAD v4

Number of alleles fetched