Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108668280_108668300delCA2579676910COL4A5c.3605-39_3605-19del (n.3605-39_3605-19del)
c.3281-39_3281-19del (n.3281-39_3281-19del)
c.1178-39_1178-19del (n.1178-39_1178-19del)
c.3620-39_3620-19del (n.3620-39_3620-19del)
c.1940-39_1940-19del (n.1940-39_1940-19del)
 ClinVar gnomAD v4
Xg.108668280C>ACA658422408COL4A5c.3605-39C>A (n.3605-39C>A)
c.3281-39C>A (n.3281-39C>A)
c.1178-39C>A (n.1178-39C>A)
c.3620-39C>A (n.3620-39C>A)
c.1940-39C>A (n.1940-39C>A)
 gnomAD v4 COSMIC COSMIC
Xg.108668280C>TCA2694441648COL4A5c.3605-39C>T (n.3605-39C>T)
c.3281-39C>T (n.3281-39C>T)
c.1178-39C>T (n.1178-39C>T)
c.3620-39C>T (n.3620-39C>T)
c.1940-39C>T (n.1940-39C>T)
 gnomAD v4
Xg.108668281G>ACA2579676911COL4A5c.3605-38G>A (n.3605-38G>A)
c.3281-38G>A (n.3281-38G>A)
c.1178-38G>A (n.1178-38G>A)
c.3620-38G>A (n.3620-38G>A)
c.1940-38G>A (n.1940-38G>A)
 dbSNP gnomAD v4
Xg.108668281G>TCA2579676912COL4A5c.3605-38G>T (n.3605-38G>T)
c.3281-38G>T (n.3281-38G>T)
c.1178-38G>T (n.1178-38G>T)
c.3620-38G>T (n.3620-38G>T)
c.1940-38G>T (n.1940-38G>T)
Xg.108668283T>CCA10489147COL4A5c.3605-36T>C (n.3605-36T>C)
c.3281-36T>C (n.3281-36T>C)
c.1178-36T>C (n.1178-36T>C)
c.3620-36T>C (n.3620-36T>C)
c.1940-36T>C (n.1940-36T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668283T=CA2450712893COL4A5c.3605-36T= (n.3605-36T=)
c.3281-36T= (n.3281-36T=)
c.1178-36T= (n.1178-36T=)
c.3620-36T= (n.3620-36T=)
c.1940-36T= (n.1940-36T=)
Xg.108668284A=CA2450712894COL4A5c.3605-35A= (n.3605-35A=)
c.3281-35A= (n.3281-35A=)
c.1178-35A= (n.1178-35A=)
c.3620-35A= (n.3620-35A=)
c.1940-35A= (n.1940-35A=)
Xg.108668284A>CCA2694441649COL4A5c.3605-35A>C (n.3605-35A>C)
c.3281-35A>C (n.3281-35A>C)
c.1178-35A>C (n.1178-35A>C)
c.3620-35A>C (n.3620-35A>C)
c.1940-35A>C (n.1940-35A>C)
 gnomAD v4
Xg.108668284A>TCA10489148COL4A5c.3605-35A>T (n.3605-35A>T)
c.3281-35A>T (n.3281-35A>T)
c.1178-35A>T (n.1178-35A>T)
c.3620-35A>T (n.3620-35A>T)
c.1940-35A>T (n.1940-35A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668285T>CCA2694441650COL4A5c.3605-34T>C (n.3605-34T>C)
c.3281-34T>C (n.3281-34T>C)
c.1178-34T>C (n.1178-34T>C)
c.3620-34T>C (n.3620-34T>C)
c.1940-34T>C (n.1940-34T>C)
 gnomAD v4
Xg.108668288T>GCA10489149COL4A5c.3605-31T>G (n.3605-31T>G)
c.3281-31T>G (n.3281-31T>G)
c.1178-31T>G (n.1178-31T>G)
c.3620-31T>G (n.3620-31T>G)
c.1940-31T>G (n.1940-31T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668288T=CA2450712895COL4A5c.3605-31T= (n.3605-31T=)
c.3281-31T= (n.3281-31T=)
c.1178-31T= (n.1178-31T=)
c.3620-31T= (n.3620-31T=)
c.1940-31T= (n.1940-31T=)
Xg.108668290delCA2579676913COL4A5c.3605-29del (n.3605-29del)
c.3281-29del (n.3281-29del)
c.1178-29del (n.1178-29del)
c.3620-29del (n.3620-29del)
c.1940-29del (n.1940-29del)
Xg.108668290T>CCA2694441651COL4A5c.3605-29T>C (n.3605-29T>C)
c.3281-29T>C (n.3281-29T>C)
c.1178-29T>C (n.1178-29T>C)
c.3620-29T>C (n.3620-29T>C)
c.1940-29T>C (n.1940-29T>C)
 gnomAD v4
Xg.108668291A=CA2450712896COL4A5c.3605-28A= (n.3605-28A=)
c.3281-28A= (n.3281-28A=)
c.1178-28A= (n.1178-28A=)
c.3620-28A= (n.3620-28A=)
c.1940-28A= (n.1940-28A=)
Xg.108668291A>GCA1136189464COL4A5c.3605-28A>G (n.3605-28A>G)
c.3281-28A>G (n.3281-28A>G)
c.1178-28A>G (n.1178-28A>G)
c.3620-28A>G (n.3620-28A>G)
c.1940-28A>G (n.1940-28A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108668292T>ACA2579676914COL4A5c.3605-27T>A (n.3605-27T>A)
c.3281-27T>A (n.3281-27T>A)
c.1178-27T>A (n.1178-27T>A)
c.3620-27T>A (n.3620-27T>A)
c.1940-27T>A (n.1940-27T>A)
 gnomAD v4
Xg.108668292T>CCA10489150COL4A5c.3605-27T>C (n.3605-27T>C)
c.3281-27T>C (n.3281-27T>C)
c.1178-27T>C (n.1178-27T>C)
c.3620-27T>C (n.3620-27T>C)
c.1940-27T>C (n.1940-27T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668292T=CA2450712897COL4A5c.3605-27T= (n.3605-27T=)
c.3281-27T= (n.3281-27T=)
c.1178-27T= (n.1178-27T=)
c.3620-27T= (n.3620-27T=)
c.1940-27T= (n.1940-27T=)
Xg.108668294T>GCA10489151COL4A5c.3605-25T>G (n.3605-25T>G)
c.3281-25T>G (n.3281-25T>G)
c.1178-25T>G (n.1178-25T>G)
c.3620-25T>G (n.3620-25T>G)
c.1940-25T>G (n.1940-25T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668294T=CA2450712898COL4A5c.3605-25T= (n.3605-25T=)
c.3281-25T= (n.3281-25T=)
c.1178-25T= (n.1178-25T=)
c.3620-25T= (n.3620-25T=)
c.1940-25T= (n.1940-25T=)
Xg.108668299_108668305delinsATTATACCA2450712899COL4A5c.3605-20_3605-14delinsATTATAC (n.3605-20_3605-14delinsATTATAC)
c.3281-20_3281-14delinsATTATAC (n.3281-20_3281-14delinsATTATAC)
c.1178-20_1178-14delinsATTATAC (n.1178-20_1178-14delinsATTATAC)
c.3620-20_3620-14delinsATTATAC (n.3620-20_3620-14delinsATTATAC)
c.1940-20_1940-14delinsATTATAC (n.1940-20_1940-14delinsATTATAC)
Xg.108668300T>GCA2694441652COL4A5c.3605-19T>G (n.3605-19T>G)
c.3281-19T>G (n.3281-19T>G)
c.1178-19T>G (n.1178-19T>G)
c.3620-19T>G (n.3620-19T>G)
c.1940-19T>G (n.1940-19T>G)
 gnomAD v4
Xg.108668302_108668307delCA869813024COL4A5c.3605-17_3605-12del (n.3605-17_3605-12del)
c.3281-17_3281-12del (n.3281-17_3281-12del)
c.1178-17_1178-12del (n.1178-17_1178-12del)
c.3620-17_3620-12del (n.3620-17_3620-12del)
c.1940-17_1940-12del (n.1940-17_1940-12del)
 dbSNP
Xg.108668301T>ACA643636685COL4A5c.3605-18T>A (n.3605-18T>A)
c.3281-18T>A (n.3281-18T>A)
c.1178-18T>A (n.1178-18T>A)
c.3620-18T>A (n.3620-18T>A)
c.1940-18T>A (n.1940-18T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668301T=CA2450712900COL4A5c.3605-18T= (n.3605-18T=)
c.3281-18T= (n.3281-18T=)
c.1178-18T= (n.1178-18T=)
c.3620-18T= (n.3620-18T=)
c.1940-18T= (n.1940-18T=)
Xg.108668302_108668307delinsATACTTCA2450712901COL4A5c.3605-17_3605-12delinsATACTT (n.3605-17_3605-12delinsATACTT)
c.3281-17_3281-12delinsATACTT (n.3281-17_3281-12delinsATACTT)
c.1178-17_1178-12delinsATACTT (n.1178-17_1178-12delinsATACTT)
c.3620-17_3620-12delinsATACTT (n.3620-17_3620-12delinsATACTT)
c.1940-17_1940-12delinsATACTT (n.1940-17_1940-12delinsATACTT)
Xg.108668309_108668313delCA869813047COL4A5c.3605-10_3605-6del (n.3605-10_3605-6del)
c.3281-10_3281-6del (n.3281-10_3281-6del)
c.1178-10_1178-6del (n.1178-10_1178-6del)
c.3620-10_3620-6del (n.3620-10_3620-6del)
c.1940-10_1940-6del (n.1940-10_1940-6del)
 dbSNP
Xg.108668304A=CA2450712902COL4A5c.3605-15A= (n.3605-15A=)
c.3281-15A= (n.3281-15A=)
c.1178-15A= (n.1178-15A=)
c.3620-15A= (n.3620-15A=)
c.1940-15A= (n.1940-15A=)
Xg.108668304A>GCA2450712903COL4A5c.3605-15A>G (n.3605-15A>G)
c.3281-15A>G (n.3281-15A>G)
c.1178-15A>G (n.1178-15A>G)
c.3620-15A>G (n.3620-15A>G)
c.1940-15A>G (n.1940-15A>G)
 ClinVar dbSNP gnomAD v4
Xg.108668308delCA2579676915COL4A5c.3605-11del (n.3605-11del)
c.3281-11del (n.3281-11del)
c.1178-11del (n.1178-11del)
c.3620-11del (n.3620-11del)
c.1940-11del (n.1940-11del)
Xg.108668307T>CCA2450712904COL4A5c.3605-12T>C (n.3605-12T>C)
c.3281-12T>C (n.3281-12T>C)
c.1178-12T>C (n.1178-12T>C)
c.3620-12T>C (n.3620-12T>C)
c.1940-12T>C (n.1940-12T>C)
 ClinVar dbSNP
Xg.108668307T=CA2450712905COL4A5c.3605-12T= (n.3605-12T=)
c.3281-12T= (n.3281-12T=)
c.1178-12T= (n.1178-12T=)
c.3620-12T= (n.3620-12T=)
c.1940-12T= (n.1940-12T=)
Xg.108668307_108668315delinsTTACTTTCACA2450712906COL4A5c.3605-12_3605-4delinsTTACTTTCA (n.3605-12_3605-4delinsTTACTTTCA)
c.3281-12_3281-4delinsTTACTTTCA (n.3281-12_3281-4delinsTTACTTTCA)
c.1178-12_1178-4delinsTTACTTTCA (n.1178-12_1178-4delinsTTACTTTCA)
c.3620-12_3620-4delinsTTACTTTCA (n.3620-12_3620-4delinsTTACTTTCA)
c.1940-12_1940-4delinsTTACTTTCA (n.1940-12_1940-4delinsTTACTTTCA)
Xg.108668308T>CCA10489152COL4A5c.3605-11T>C (n.3605-11T>C)
c.3281-11T>C (n.3281-11T>C)
c.1178-11T>C (n.1178-11T>C)
c.3620-11T>C (n.3620-11T>C)
c.1940-11T>C (n.1940-11T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668308T=CA2450712907COL4A5c.3605-11T= (n.3605-11T=)
c.3281-11T= (n.3281-11T=)
c.1178-11T= (n.1178-11T=)
c.3620-11T= (n.3620-11T=)
c.1940-11T= (n.1940-11T=)
Xg.108668310_108668317delCA920430367COL4A5c.3605-9_3605-2del (n.3605-9_3605-2del)
c.3281-9_3281-2del (n.3281-9_3281-2del)
c.1178-9_1178-2del (n.1178-9_1178-2del)
c.3620-9_3620-2del (n.3620-9_3620-2del)
c.1940-9_1940-2del (n.1940-9_1940-2del)
 dbSNP
Xg.108668310C=CA2450712908COL4A5c.3605-9C= (n.3605-9C=)
c.3281-9C= (n.3281-9C=)
c.1178-9C= (n.1178-9C=)
c.3620-9C= (n.3620-9C=)
c.1940-9C= (n.1940-9C=)
Xg.108668310C>GCA2695235651COL4A5c.3605-9C>G (n.3605-9C>G)
c.3281-9C>G (n.3281-9C>G)
c.1178-9C>G (n.1178-9C>G)
c.3620-9C>G (n.3620-9C>G)
c.1940-9C>G (n.1940-9C>G)
Xg.108668310C>TCA10489153COL4A5c.3605-9C>T (n.3605-9C>T)
c.3281-9C>T (n.3281-9C>T)
c.1178-9C>T (n.1178-9C>T)
c.3620-9C>T (n.3620-9C>T)
c.1940-9C>T (n.1940-9C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668311T>GCA10489154COL4A5c.3605-8T>G (n.3605-8T>G)
c.3281-8T>G (n.3281-8T>G)
c.1178-8T>G (n.1178-8T>G)
c.3620-8T>G (n.3620-8T>G)
c.1940-8T>G (n.1940-8T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668311T=CA2450712909COL4A5c.3605-8T= (n.3605-8T=)
c.3281-8T= (n.3281-8T=)
c.1178-8T= (n.1178-8T=)
c.3620-8T= (n.3620-8T=)
c.1940-8T= (n.1940-8T=)
Xg.108668312T>ACA2694441653COL4A5c.3605-7T>A (n.3605-7T>A)
c.3281-7T>A (n.3281-7T>A)
c.1178-7T>A (n.1178-7T>A)
c.3620-7T>A (n.3620-7T>A)
c.1940-7T>A (n.1940-7T>A)
 gnomAD v4
Xg.108668314C>TCA2697544719COL4A5c.3605-5C>T (n.3605-5C>T)
c.3281-5C>T (n.3281-5C>T)
c.1178-5C>T (n.1178-5C>T)
c.3620-5C>T (n.3620-5C>T)
c.1940-5C>T (n.1940-5C>T)
 ClinVar
Xg.108668315A=CA2450712910COL4A5c.3605-4A= (n.3605-4A=)
c.3281-4A= (n.3281-4A=)
c.1178-4A= (n.1178-4A=)
c.3620-4A= (n.3620-4A=)
c.1940-4A= (n.1940-4A=)
Xg.108668315A>GCA643636686COL4A5c.3605-4A>G (n.3605-4A>G)
c.3281-4A>G (n.3281-4A>G)
c.1178-4A>G (n.1178-4A>G)
c.3620-4A>G (n.3620-4A>G)
c.1940-4A>G (n.1940-4A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108668315A>TCA2694441654COL4A5c.3605-4A>T (n.3605-4A>T)
c.3281-4A>T (n.3281-4A>T)
c.1178-4A>T (n.1178-4A>T)
c.3620-4A>T (n.3620-4A>T)
c.1940-4A>T (n.1940-4A>T)
 gnomAD v4
Xg.108668316T>CCA2573159099COL4A5c.3605-3T>C (n.3605-3T>C)
c.3281-3T>C (n.3281-3T>C)
c.1178-3T>C (n.1178-3T>C)
c.3620-3T>C (n.3620-3T>C)
c.1940-3T>C (n.1940-3T>C)
 ClinVar dbSNP gnomAD v4
Xg.108668317A=CA2450712911COL4A5c.3605-2A= (n.3605-2A=)
c.3281-2A= (n.3281-2A=)
c.1178-2A= (n.1178-2A=)
c.3620-2A= (n.3620-2A=)
c.1940-2A= (n.1940-2A=)
Xg.108668317A>CCA413848308COL4A5c.3605-2A>C (n.3605-2A>C)
c.3281-2A>C (n.3281-2A>C)
c.1178-2A>C (n.1178-2A>C)
c.3620-2A>C (n.3620-2A>C)
c.1940-2A>C (n.1940-2A>C)
Xg.108668317A>GCA258905COL4A5c.3605-2A>G (n.3605-2A>G)
c.3281-2A>G (n.3281-2A>G)
c.1178-2A>G (n.1178-2A>G)
c.3620-2A>G (n.3620-2A>G)
c.1940-2A>G (n.1940-2A>G)
 ClinVar dbSNP
Xg.108668317A>TCA413848311COL4A5c.3605-2A>T (n.3605-2A>T)
c.3281-2A>T (n.3281-2A>T)
c.1178-2A>T (n.1178-2A>T)
c.3620-2A>T (n.3620-2A>T)
c.1940-2A>T (n.1940-2A>T)
Xg.108668320_108668505delCA2695235652COL4A5c.3606_3790+1del
c.3282_3466+1del
c.1179_1363+1del
c.3621_3805+1del
c.1941_2125+1del
Xg.108668318G>ACA258906COL4A5c.3605-1G>A (n.3605-1G>A)
c.3281-1G>A (n.3281-1G>A)
c.1178-1G>A (n.1178-1G>A)
c.3620-1G>A (n.3620-1G>A)
c.1940-1G>A (n.1940-1G>A)
 dbSNP
Xg.108668318G>CCA413848313COL4A5c.3605-1G>C (n.3605-1G>C)
c.3281-1G>C (n.3281-1G>C)
c.1178-1G>C (n.1178-1G>C)
c.3620-1G>C (n.3620-1G>C)
c.1940-1G>C (n.1940-1G>C)
Xg.108668318G=CA2450712912COL4A5c.3605-1G= (n.3605-1G=)
c.3281-1G= (n.3281-1G=)
c.1178-1G= (n.1178-1G=)
c.3620-1G= (n.3620-1G=)
c.1940-1G= (n.1940-1G=)
Xg.108668318G>TCA413848316COL4A5c.3605-1G>T (n.3605-1G>T)
c.3281-1G>T (n.3281-1G>T)
c.1178-1G>T (n.1178-1G>T)
c.3620-1G>T (n.3620-1G>T)
c.1940-1G>T (n.1940-1G>T)
Xg.108668319G>ACA413848319COL4A5c.3605G>A (p.Gly1202Asp)
c.3281G>A (p.Gly1094Asp)
c.1178G>A (p.Gly393Asp)
c.3620G>A (p.Gly1207Asp)
c.1940G>A (p.Gly647Asp)
 ClinVar dbSNP
Xg.108668319G>CCA413848321COL4A5c.3605G>C (p.Gly1202Ala)
c.3281G>C (p.Gly1094Ala)
c.1178G>C (p.Gly393Ala)
c.3620G>C (p.Gly1207Ala)
c.1940G>C (p.Gly647Ala)
Xg.108668319G=CA2450712913COL4A5c.3605G= (p.Gly1202=)
c.3281G= (p.Gly1094=)
c.1178G= (p.Gly393=)
c.3620G= (p.Gly1207=)
c.1940G= (p.Gly647=)
Xg.108668319G>TCA413848323COL4A5c.3605G>T (p.Gly1202Val)
c.3281G>T (p.Gly1094Val)
c.1178G>T (p.Gly393Val)
c.3620G>T (p.Gly1207Val)
c.1940G>T (p.Gly647Val)
 ClinVar dbSNP
Xg.108668320C>ACA517922544COL4A5c.3606C>A (p.Gly1202=)
c.3282C>A (p.Gly1094=)
c.1179C>A (p.Gly393=)
c.3621C>A (p.Gly1207=)
c.1941C>A (p.Gly647=)
Xg.108668320C>GCA517922545COL4A5c.3606C>G (p.Gly1202=)
c.3282C>G (p.Gly1094=)
c.1179C>G (p.Gly393=)
c.3621C>G (p.Gly1207=)
c.1941C>G (p.Gly647=)
Xg.108668320C>TCA517922546COL4A5c.3606C>T (p.Gly1202=)
c.3282C>T (p.Gly1094=)
c.1179C>T (p.Gly393=)
c.3621C>T (p.Gly1207=)
c.1941C>T (p.Gly647=)
 gnomAD v4
Xg.108668321C>ACA413848325COL4A5c.3607C>A (p.Gln1203Lys)
c.3283C>A (p.Gln1095Lys)
c.1180C>A (p.Gln394Lys)
c.3622C>A (p.Gln1208Lys)
c.1942C>A (p.Gln648Lys)
Xg.108668321C>GCA413848327COL4A5c.3607C>G (p.Gln1203Glu)
c.3283C>G (p.Gln1095Glu)
c.1180C>G (p.Gln394Glu)
c.3622C>G (p.Gln1208Glu)
c.1942C>G (p.Gln648Glu)
Xg.108668321C>TCA413848330COL4A5c.3607C>T (p.Gln1203Ter)
c.3283C>T (p.Gln1095Ter)
c.1180C>T (p.Gln394Ter)
c.3622C>T (p.Gln1208Ter)
c.1942C>T (p.Gln648Ter)
Xg.108668322A>CCA413848332COL4A5c.3608A>C (p.Gln1203Pro)
c.3284A>C (p.Gln1095Pro)
c.1181A>C (p.Gln394Pro)
c.3623A>C (p.Gln1208Pro)
c.1943A>C (p.Gln648Pro)
Xg.108668322A>GCA413848334COL4A5c.3608A>G (p.Gln1203Arg)
c.3284A>G (p.Gln1095Arg)
c.1181A>G (p.Gln394Arg)
c.3623A>G (p.Gln1208Arg)
c.1943A>G (p.Gln648Arg)
Xg.108668322A>TCA413848336COL4A5c.3608A>T (p.Gln1203Leu)
c.3284A>T (p.Gln1095Leu)
c.1181A>T (p.Gln394Leu)
c.3623A>T (p.Gln1208Leu)
c.1943A>T (p.Gln648Leu)
Xg.108668325delCA2579676916COL4A5c.3611del (p.Lys1204ArgfsTer?)
c.3287del (p.Lys1096ArgfsTer?)
c.1184del (p.Lys395ArgfsTer?)
c.3626del (p.Lys1209ArgfsTer?)
c.1946del (p.Lys649ArgfsTer?)
Xg.108668323A=CA2450712914COL4A5c.3609A= (p.Gln1203=)
c.3285A= (p.Gln1095=)
c.1182A= (p.Gln394=)
c.3624A= (p.Gln1208=)
c.1944A= (p.Gln648=)
Xg.108668323A>CCA413848339COL4A5c.3609A>C (p.Gln1203His)
c.3285A>C (p.Gln1095His)
c.1182A>C (p.Gln394His)
c.3624A>C (p.Gln1208His)
c.1944A>C (p.Gln648His)
Xg.108668323A>GCA10489155COL4A5c.3609A>G (p.Gln1203=)
c.3285A>G (p.Gln1095=)
c.1182A>G (p.Gln394=)
c.3624A>G (p.Gln1208=)
c.1944A>G (p.Gln648=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668323A>TCA413848342COL4A5c.3609A>T (p.Gln1203His)
c.3285A>T (p.Gln1095His)
c.1182A>T (p.Gln394His)
c.3624A>T (p.Gln1208His)
c.1944A>T (p.Gln648His)
Xg.108668324A>CCA413848349COL4A5c.3610A>C (p.Lys1204Gln)
c.3286A>C (p.Lys1096Gln)
c.1183A>C (p.Lys395Gln)
c.3625A>C (p.Lys1209Gln)
c.1945A>C (p.Lys649Gln)
Xg.108668324A>GCA413848346COL4A5c.3610A>G (p.Lys1204Glu)
c.3286A>G (p.Lys1096Glu)
c.1183A>G (p.Lys395Glu)
c.3625A>G (p.Lys1209Glu)
c.1945A>G (p.Lys649Glu)
Xg.108668324A>TCA413848344COL4A5c.3610A>T (p.Lys1204Ter)
c.3286A>T (p.Lys1096Ter)
c.1183A>T (p.Lys395Ter)
c.3625A>T (p.Lys1209Ter)
c.1945A>T (p.Lys649Ter)
Xg.108668325A>CCA413848350COL4A5c.3611A>C (p.Lys1204Thr)
c.3287A>C (p.Lys1096Thr)
c.1184A>C (p.Lys395Thr)
c.3626A>C (p.Lys1209Thr)
c.1946A>C (p.Lys649Thr)
Xg.108668325A>GCA413848353COL4A5c.3611A>G (p.Lys1204Arg)
c.3287A>G (p.Lys1096Arg)
c.1184A>G (p.Lys395Arg)
c.3626A>G (p.Lys1209Arg)
c.1946A>G (p.Lys649Arg)
 COSMIC COSMIC
Xg.108668325A>TCA413848352COL4A5c.3611A>T (p.Lys1204Met)
c.3287A>T (p.Lys1096Met)
c.1184A>T (p.Lys395Met)
c.3626A>T (p.Lys1209Met)
c.1946A>T (p.Lys649Met)
Xg.108668326G>ACA517922547COL4A5c.3612G>A (p.Lys1204=)
c.3288G>A (p.Lys1096=)
c.1185G>A (p.Lys395=)
c.3627G>A (p.Lys1209=)
c.1947G>A (p.Lys649=)
Xg.108668326G>CCA413848354COL4A5c.3612G>C (p.Lys1204Asn)
c.3288G>C (p.Lys1096Asn)
c.1185G>C (p.Lys395Asn)
c.3627G>C (p.Lys1209Asn)
c.1947G>C (p.Lys649Asn)
Xg.108668326G>TCA413848356COL4A5c.3612G>T (p.Lys1204Asn)
c.3288G>T (p.Lys1096Asn)
c.1185G>T (p.Lys395Asn)
c.3627G>T (p.Lys1209Asn)
c.1947G>T (p.Lys649Asn)
Xg.108668328delCA2695235653COL4A5c.3614del (p.Gly1205ValfsTer?)
c.3290del (p.Gly1097ValfsTer?)
c.1187del (p.Gly396ValfsTer?)
c.3629del (p.Gly1210ValfsTer?)
c.1949del (p.Gly650ValfsTer?)
Xg.108668327G>ACA258909COL4A5c.3613G>A (p.Gly1205Ser)
c.3289G>A (p.Gly1097Ser)
c.1186G>A (p.Gly396Ser)
c.3628G>A (p.Gly1210Ser)
c.1948G>A (p.Gly650Ser)
 ClinVar dbSNP
Xg.108668327G>CCA413848359COL4A5c.3613G>C (p.Gly1205Arg)
c.3289G>C (p.Gly1097Arg)
c.1186G>C (p.Gly396Arg)
c.3628G>C (p.Gly1210Arg)
c.1948G>C (p.Gly650Arg)
Xg.108668327G=CA2450712915COL4A5c.3613G= (p.Gly1205=)
c.3289G= (p.Gly1097=)
c.1186G= (p.Gly396=)
c.3628G= (p.Gly1210=)
c.1948G= (p.Gly650=)
Xg.108668327G>TCA258907COL4A5c.3613G>T (p.Gly1205Cys)
c.3289G>T (p.Gly1097Cys)
c.1186G>T (p.Gly396Cys)
c.3628G>T (p.Gly1210Cys)
c.1948G>T (p.Gly650Cys)
 dbSNP
Xg.108668328G>ACA413848361COL4A5c.3614G>A (p.Gly1205Asp)
c.3290G>A (p.Gly1097Asp)
c.1187G>A (p.Gly396Asp)
c.3629G>A (p.Gly1210Asp)
c.1949G>A (p.Gly650Asp)
 ClinVar dbSNP gnomAD v4
Xg.108668328G>CCA413848362COL4A5c.3614G>C (p.Gly1205Ala)
c.3290G>C (p.Gly1097Ala)
c.1187G>C (p.Gly396Ala)
c.3629G>C (p.Gly1210Ala)
c.1949G>C (p.Gly650Ala)
Xg.108668328G=CA2450712916COL4A5c.3614G= (p.Gly1205=)
c.3290G= (p.Gly1097=)
c.1187G= (p.Gly396=)
c.3629G= (p.Gly1210=)
c.1949G= (p.Gly650=)
Xg.108668328G>TCA413848363COL4A5c.3614G>T (p.Gly1205Val)
c.3290G>T (p.Gly1097Val)
c.1187G>T (p.Gly396Val)
c.3629G>T (p.Gly1210Val)
c.1949G>T (p.Gly650Val)
 ClinVar dbSNP
Xg.108668329T>ACA517922550COL4A5c.3615T>A (p.Gly1205=)
c.3291T>A (p.Gly1097=)
c.1188T>A (p.Gly396=)
c.3630T>A (p.Gly1210=)
c.1950T>A (p.Gly650=)
Xg.108668329T>CCA517922548COL4A5c.3615T>C (p.Gly1205=)
c.3291T>C (p.Gly1097=)
c.1188T>C (p.Gly396=)
c.3630T>C (p.Gly1210=)
c.1950T>C (p.Gly650=)
Xg.108668329T>GCA517922549COL4A5c.3615T>G (p.Gly1205=)
c.3291T>G (p.Gly1097=)
c.1188T>G (p.Gly396=)
c.3630T>G (p.Gly1210=)
c.1950T>G (p.Gly650=)
Xg.108668329_108668333delinsTGATGCA2450712917COL4A5c.3615_3619delinsTGATG (p.Gly1205=)
c.3291_3295delinsTGATG (p.Gly1097=)
c.1188_1192delinsTGATG (p.Gly396=)
c.3630_3634delinsTGATG (p.Gly1210=)
c.1950_1954delinsTGATG (p.Gly650=)
Xg.108668330G>ACA413848364COL4A5c.3616G>A (p.Asp1206Asn)
c.3292G>A (p.Asp1098Asn)
c.1189G>A (p.Asp397Asn)
c.3631G>A (p.Asp1211Asn)
c.1951G>A (p.Asp651Asn)
Xg.108668330G>CCA413848366COL4A5c.3616G>C (p.Asp1206His)
c.3292G>C (p.Asp1098His)
c.1189G>C (p.Asp397His)
c.3631G>C (p.Asp1211His)
c.1951G>C (p.Asp651His)
Xg.108668330G>TCA413848367COL4A5c.3616G>T (p.Asp1206Tyr)
c.3292G>T (p.Asp1098Tyr)
c.1189G>T (p.Asp397Tyr)
c.3631G>T (p.Asp1211Tyr)
c.1951G>T (p.Asp651Tyr)
Xg.108668332_108668335delCA334046710COL4A5c.3618_3621del (p.Asp1206GlufsTer?)
c.3294_3297del (p.Asp1098GlufsTer?)
c.1191_1194del (p.Asp397GlufsTer?)
c.3633_3636del (p.Asp1211GlufsTer?)
c.1953_1956del (p.Asp651GlufsTer?)
 dbSNP
Xg.108668331A>CCA413848372COL4A5c.3617A>C (p.Asp1206Ala)
c.3293A>C (p.Asp1098Ala)
c.1190A>C (p.Asp397Ala)
c.3632A>C (p.Asp1211Ala)
c.1952A>C (p.Asp651Ala)
Xg.108668331A>GCA413848369COL4A5c.3617A>G (p.Asp1206Gly)
c.3293A>G (p.Asp1098Gly)
c.1190A>G (p.Asp397Gly)
c.3632A>G (p.Asp1211Gly)
c.1952A>G (p.Asp651Gly)
 ClinVar dbSNP gnomAD v4
Xg.108668331A>TCA413848370COL4A5c.3617A>T (p.Asp1206Val)
c.3293A>T (p.Asp1098Val)
c.1190A>T (p.Asp397Val)
c.3632A>T (p.Asp1211Val)
c.1952A>T (p.Asp651Val)
Xg.108668331_108668336delinsATGGAGCA2450712918COL4A5c.3617_3622delinsATGGAG (p.Asp1206=)
c.3293_3298delinsATGGAG (p.Asp1098=)
c.1190_1195delinsATGGAG (p.Asp397=)
c.3632_3637delinsATGGAG (p.Asp1211=)
c.1952_1957delinsATGGAG (p.Asp651=)
Xg.108668332T>ACA413848375COL4A5c.3618T>A (p.Asp1206Glu)
c.3294T>A (p.Asp1098Glu)
c.1191T>A (p.Asp397Glu)
c.3633T>A (p.Asp1211Glu)
c.1953T>A (p.Asp651Glu)
Xg.108668332T>CCA517922551COL4A5c.3618T>C (p.Asp1206=)
c.3294T>C (p.Asp1098=)
c.1191T>C (p.Asp397=)
c.3633T>C (p.Asp1211=)
c.1953T>C (p.Asp651=)
 ClinVar dbSNP gnomAD v4
Xg.108668332T>GCA413848377COL4A5c.3618T>G (p.Asp1206Glu)
c.3294T>G (p.Asp1098Glu)
c.1191T>G (p.Asp397Glu)
c.3633T>G (p.Asp1211Glu)
c.1953T>G (p.Asp651Glu)
Xg.108668332_108668336delCA891843683COL4A5c.3618_3622del (p.Asp1206GlufsTer?)
c.3294_3298del (p.Asp1098GlufsTer?)
c.1191_1195del (p.Asp397GlufsTer?)
c.3633_3637del (p.Asp1211GlufsTer?)
c.1953_1957del (p.Asp651GlufsTer?)
Xg.108668333G>ACA413848379COL4A5c.3619G>A (p.Gly1207Arg)
c.3295G>A (p.Gly1099Arg)
c.1192G>A (p.Gly398Arg)
c.3634G>A (p.Gly1212Arg)
c.1954G>A (p.Gly652Arg)
Xg.108668333G>CCA413848380COL4A5c.3619G>C (p.Gly1207Arg)
c.3295G>C (p.Gly1099Arg)
c.1192G>C (p.Gly398Arg)
c.3634G>C (p.Gly1212Arg)
c.1954G>C (p.Gly652Arg)
Xg.108668333G=CA2450712919COL4A5c.3619G= (p.Gly1207=)
c.3295G= (p.Gly1099=)
c.1192G= (p.Gly398=)
c.3634G= (p.Gly1212=)
c.1954G= (p.Gly652=)
Xg.108668333G>TCA413848382COL4A5c.3619G>T (p.Gly1207Ter)
c.3295G>T (p.Gly1099Ter)
c.1192G>T (p.Gly398Ter)
c.3634G>T (p.Gly1212Ter)
c.1954G>T (p.Gly652Ter)
 ClinVar dbSNP
Xg.108668334G>ACA413848384COL4A5c.3620G>A (p.Gly1207Glu)
c.3296G>A (p.Gly1099Glu)
c.1193G>A (p.Gly398Glu)
c.3635G>A (p.Gly1212Glu)
c.1955G>A (p.Gly652Glu)
 COSMIC COSMIC
Xg.108668334G>CCA413848386COL4A5c.3620G>C (p.Gly1207Ala)
c.3296G>C (p.Gly1099Ala)
c.1193G>C (p.Gly398Ala)
c.3635G>C (p.Gly1212Ala)
c.1955G>C (p.Gly652Ala)
Xg.108668334G>TCA413848388COL4A5c.3620G>T (p.Gly1207Val)
c.3296G>T (p.Gly1099Val)
c.1193G>T (p.Gly398Val)
c.3635G>T (p.Gly1212Val)
c.1955G>T (p.Gly652Val)
Xg.108668335A>CCA517922552COL4A5c.3621A>C (p.Gly1207=)
c.3297A>C (p.Gly1099=)
c.1194A>C (p.Gly398=)
c.3636A>C (p.Gly1212=)
c.1956A>C (p.Gly652=)
Xg.108668335A>GCA517922553COL4A5c.3621A>G (p.Gly1207=)
c.3297A>G (p.Gly1099=)
c.1194A>G (p.Gly398=)
c.3636A>G (p.Gly1212=)
c.1956A>G (p.Gly652=)
 ClinVar dbSNP gnomAD v4
Xg.108668335A>TCA517922554COL4A5c.3621A>T (p.Gly1207=)
c.3297A>T (p.Gly1099=)
c.1194A>T (p.Gly398=)
c.3636A>T (p.Gly1212=)
c.1956A>T (p.Gly652=)
Xg.108668336G>ACA413848390COL4A5c.3622G>A (p.Gly1208Arg)
c.3298G>A (p.Gly1100Arg)
c.1195G>A (p.Gly399Arg)
c.3637G>A (p.Gly1213Arg)
c.1957G>A (p.Gly653Arg)
 gnomAD v4
Xg.108668336G>CCA413848393COL4A5c.3622G>C (p.Gly1208Arg)
c.3298G>C (p.Gly1100Arg)
c.1195G>C (p.Gly399Arg)
c.3637G>C (p.Gly1213Arg)
c.1957G>C (p.Gly653Arg)
 ClinVar
Xg.108668336G>TCA413848395COL4A5c.3622G>T (p.Gly1208Ter)
c.3298G>T (p.Gly1100Ter)
c.1195G>T (p.Gly399Ter)
c.3637G>T (p.Gly1213Ter)
c.1957G>T (p.Gly653Ter)
Xg.108668337G>ACA413848399COL4A5c.3623G>A (p.Gly1208Glu)
c.3299G>A (p.Gly1100Glu)
c.1196G>A (p.Gly399Glu)
c.3638G>A (p.Gly1213Glu)
c.1958G>A (p.Gly653Glu)
 ClinVar dbSNP COSMIC COSMIC
Xg.108668337G>CCA413848401COL4A5c.3623G>C (p.Gly1208Ala)
c.3299G>C (p.Gly1100Ala)
c.1196G>C (p.Gly399Ala)
c.3638G>C (p.Gly1213Ala)
c.1958G>C (p.Gly653Ala)
Xg.108668337G=CA2450712920COL4A5c.3623G= (p.Gly1208=)
c.3299G= (p.Gly1100=)
c.1196G= (p.Gly399=)
c.3638G= (p.Gly1213=)
c.1958G= (p.Gly653=)
Xg.108668337G>TCA413848397COL4A5c.3623G>T (p.Gly1208Val)
c.3299G>T (p.Gly1100Val)
c.1196G>T (p.Gly399Val)
c.3638G>T (p.Gly1213Val)
c.1958G>T (p.Gly653Val)
Xg.108668337_108668338delCA2695235654COL4A5c.3623_3624del (p.Gly1208ValfsTer?)
c.3299_3300del (p.Gly1100ValfsTer?)
c.1196_1197del (p.Gly399ValfsTer?)
c.3638_3639del (p.Gly1213ValfsTer?)
c.1958_1959del (p.Gly653ValfsTer?)
Xg.108668338A>CCA517922555COL4A5c.3624A>C (p.Gly1208=)
c.3300A>C (p.Gly1100=)
c.1197A>C (p.Gly399=)
c.3639A>C (p.Gly1213=)
c.1959A>C (p.Gly653=)
 ClinVar
Xg.108668338A>GCA517922556COL4A5c.3624A>G (p.Gly1208=)
c.3300A>G (p.Gly1100=)
c.1197A>G (p.Gly399=)
c.3639A>G (p.Gly1213=)
c.1959A>G (p.Gly653=)
Xg.108668338A>TCA517922557COL4A5c.3624A>T (p.Gly1208=)
c.3300A>T (p.Gly1100=)
c.1197A>T (p.Gly399=)
c.3639A>T (p.Gly1213=)
c.1959A>T (p.Gly653=)
Xg.108668339T>ACA413848404COL4A5c.3625T>A (p.Leu1209Ile)
c.3301T>A (p.Leu1101Ile)
c.1198T>A (p.Leu400Ile)
c.3640T>A (p.Leu1214Ile)
c.1960T>A (p.Leu654Ile)
Xg.108668339T>CCA517922558COL4A5c.3625T>C (p.Leu1209=)
c.3301T>C (p.Leu1101=)
c.1198T>C (p.Leu400=)
c.3640T>C (p.Leu1214=)
c.1960T>C (p.Leu654=)
Xg.108668339T>GCA413848406COL4A5c.3625T>G (p.Leu1209Val)
c.3301T>G (p.Leu1101Val)
c.1198T>G (p.Leu400Val)
c.3640T>G (p.Leu1214Val)
c.1960T>G (p.Leu654Val)
Xg.108668340T>ACA413848408COL4A5c.3626T>A (p.Leu1209Ter)
c.3302T>A (p.Leu1101Ter)
c.1199T>A (p.Leu400Ter)
c.3641T>A (p.Leu1214Ter)
c.1961T>A (p.Leu654Ter)
Xg.108668340T>CCA413848410COL4A5c.3626T>C (p.Leu1209Ser)
c.3302T>C (p.Leu1101Ser)
c.1199T>C (p.Leu400Ser)
c.3641T>C (p.Leu1214Ser)
c.1961T>C (p.Leu654Ser)
Xg.108668340T>GCA413848413COL4A5c.3626T>G (p.Leu1209Ter)
c.3302T>G (p.Leu1101Ter)
c.1199T>G (p.Leu400Ter)
c.3641T>G (p.Leu1214Ter)
c.1961T>G (p.Leu654Ter)
Xg.108668341A>CCA413848415COL4A5c.3627A>C (p.Leu1209Phe)
c.3303A>C (p.Leu1101Phe)
c.1200A>C (p.Leu400Phe)
c.3642A>C (p.Leu1214Phe)
c.1962A>C (p.Leu654Phe)
Xg.108668341A>GCA517922559COL4A5c.3627A>G (p.Leu1209=)
c.3303A>G (p.Leu1101=)
c.1200A>G (p.Leu400=)
c.3642A>G (p.Leu1214=)
c.1962A>G (p.Leu654=)
 COSMIC COSMIC
Xg.108668341A>TCA413848417COL4A5c.3627A>T (p.Leu1209Phe)
c.3303A>T (p.Leu1101Phe)
c.1200A>T (p.Leu400Phe)
c.3642A>T (p.Leu1214Phe)
c.1962A>T (p.Leu654Phe)
Xg.108668342C>ACA413848420COL4A5c.3628C>A (p.Pro1210Thr)
c.3304C>A (p.Pro1102Thr)
c.1201C>A (p.Pro401Thr)
c.3643C>A (p.Pro1215Thr)
c.1963C>A (p.Pro655Thr)
 COSMIC COSMIC
Xg.108668342C=CA2450712921COL4A5c.3628C= (p.Pro1210=)
c.3304C= (p.Pro1102=)
c.1201C= (p.Pro401=)
c.3643C= (p.Pro1215=)
c.1963C= (p.Pro655=)
Xg.108668342C>GCA413848422COL4A5c.3628C>G (p.Pro1210Ala)
c.3304C>G (p.Pro1102Ala)
c.1201C>G (p.Pro401Ala)
c.3643C>G (p.Pro1215Ala)
c.1963C>G (p.Pro655Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.108668342C>TCA413848424COL4A5c.3628C>T (p.Pro1210Ser)
c.3304C>T (p.Pro1102Ser)
c.1201C>T (p.Pro401Ser)
c.3643C>T (p.Pro1215Ser)
c.1963C>T (p.Pro655Ser)
Xg.108668343C>ACA413848426COL4A5c.3629C>A (p.Pro1210His)
c.3305C>A (p.Pro1102His)
c.1202C>A (p.Pro401His)
c.3644C>A (p.Pro1215His)
c.1964C>A (p.Pro655His)
Xg.108668343C=CA2450712922COL4A5c.3629C= (p.Pro1210=)
c.3305C= (p.Pro1102=)
c.1202C= (p.Pro401=)
c.3644C= (p.Pro1215=)
c.1964C= (p.Pro655=)
Xg.108668343C>GCA413848428COL4A5c.3629C>G (p.Pro1210Arg)
c.3305C>G (p.Pro1102Arg)
c.1202C>G (p.Pro401Arg)
c.3644C>G (p.Pro1215Arg)
c.1964C>G (p.Pro655Arg)
Xg.108668343C>TCA413848429COL4A5c.3629C>T (p.Pro1210Leu)
c.3305C>T (p.Pro1102Leu)
c.1202C>T (p.Pro401Leu)
c.3644C>T (p.Pro1215Leu)
c.1964C>T (p.Pro655Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.108668344T>ACA517922560COL4A5c.3630T>A (p.Pro1210=)
c.3306T>A (p.Pro1102=)
c.1203T>A (p.Pro401=)
c.3645T>A (p.Pro1215=)
c.1965T>A (p.Pro655=)
Xg.108668344T>CCA517922561COL4A5c.3630T>C (p.Pro1210=)
c.3306T>C (p.Pro1102=)
c.1203T>C (p.Pro401=)
c.3645T>C (p.Pro1215=)
c.1965T>C (p.Pro655=)
Xg.108668344T>GCA517922562COL4A5c.3630T>G (p.Pro1210=)
c.3306T>G (p.Pro1102=)
c.1203T>G (p.Pro401=)
c.3645T>G (p.Pro1215=)
c.1965T>G (p.Pro655=)
Xg.108668345G>ACA413848431COL4A5c.3631G>A (p.Gly1211Arg)
c.3307G>A (p.Gly1103Arg)
c.1204G>A (p.Gly402Arg)
c.3646G>A (p.Gly1216Arg)
c.1966G>A (p.Gly656Arg)
Xg.108668345G>CCA258912COL4A5c.3631G>C (p.Gly1211Arg)
c.3307G>C (p.Gly1103Arg)
c.1204G>C (p.Gly402Arg)
c.3646G>C (p.Gly1216Arg)
c.1966G>C (p.Gly656Arg)
 dbSNP
Xg.108668345G=CA2450712923COL4A5c.3631G= (p.Gly1211=)
c.3307G= (p.Gly1103=)
c.1204G= (p.Gly402=)
c.3646G= (p.Gly1216=)
c.1966G= (p.Gly656=)
Xg.108668345G>TCA413848430COL4A5c.3631G>T (p.Gly1211Trp)
c.3307G>T (p.Gly1103Trp)
c.1204G>T (p.Gly402Trp)
c.3646G>T (p.Gly1216Trp)
c.1966G>T (p.Gly656Trp)
Xg.108668346G>ACA258914COL4A5c.3632G>A (p.Gly1211Glu)
c.3308G>A (p.Gly1103Glu)
c.1205G>A (p.Gly402Glu)
c.3647G>A (p.Gly1216Glu)
c.1967G>A (p.Gly656Glu)
 ClinVar dbSNP gnomAD v4
Xg.108668346G>CCA413848433COL4A5c.3632G>C (p.Gly1211Ala)
c.3308G>C (p.Gly1103Ala)
c.1205G>C (p.Gly402Ala)
c.3647G>C (p.Gly1216Ala)
c.1967G>C (p.Gly656Ala)
Xg.108668346G=CA2450712924COL4A5c.3632G= (p.Gly1211=)
c.3308G= (p.Gly1103=)
c.1205G= (p.Gly402=)
c.3647G= (p.Gly1216=)
c.1967G= (p.Gly656=)
Xg.108668346G>TCA413848435COL4A5c.3632G>T (p.Gly1211Val)
c.3308G>T (p.Gly1103Val)
c.1205G>T (p.Gly402Val)
c.3647G>T (p.Gly1216Val)
c.1967G>T (p.Gly656Val)
Xg.108668347G>ACA517922565COL4A5c.3633G>A (p.Gly1211=)
c.3309G>A (p.Gly1103=)
c.1206G>A (p.Gly402=)
c.3648G>A (p.Gly1216=)
c.1968G>A (p.Gly656=)
Xg.108668347G>CCA517922564COL4A5c.3633G>C (p.Gly1211=)
c.3309G>C (p.Gly1103=)
c.1206G>C (p.Gly402=)
c.3648G>C (p.Gly1216=)
c.1968G>C (p.Gly656=)
Xg.108668347G>TCA517922563COL4A5c.3633G>T (p.Gly1211=)
c.3309G>T (p.Gly1103=)
c.1206G>T (p.Gly402=)
c.3648G>T (p.Gly1216=)
c.1968G>T (p.Gly656=)
Xg.108668348A>CCA413848437COL4A5c.3634A>C (p.Ile1212Leu)
c.3310A>C (p.Ile1104Leu)
c.1207A>C (p.Ile403Leu)
c.3649A>C (p.Ile1217Leu)
c.1969A>C (p.Ile657Leu)
Xg.108668348A>GCA413848439COL4A5c.3634A>G (p.Ile1212Val)
c.3310A>G (p.Ile1104Val)
c.1207A>G (p.Ile403Val)
c.3649A>G (p.Ile1217Val)
c.1969A>G (p.Ile657Val)
Xg.108668348A>TCA413848440COL4A5c.3634A>T (p.Ile1212Phe)
c.3310A>T (p.Ile1104Phe)
c.1207A>T (p.Ile403Phe)
c.3649A>T (p.Ile1217Phe)
c.1969A>T (p.Ile657Phe)
Xg.108668348dupCA2573055065COL4A5c.3634dup (p.Ile1212AsnfsTer?)
c.3310dup (p.Ile1104AsnfsTer?)
c.1207dup (p.Ile403AsnfsTer?)
c.3649dup (p.Ile1217AsnfsTer?)
c.1969dup (p.Ile657AsnfsTer?)
 ClinVar dbSNP
Xg.108668349T>ACA413848444COL4A5c.3635T>A (p.Ile1212Asn)
c.3311T>A (p.Ile1104Asn)
c.1208T>A (p.Ile403Asn)
c.3650T>A (p.Ile1217Asn)
c.1970T>A (p.Ile657Asn)
Xg.108668349T>CCA413848446COL4A5c.3635T>C (p.Ile1212Thr)
c.3311T>C (p.Ile1104Thr)
c.1208T>C (p.Ile403Thr)
c.3650T>C (p.Ile1217Thr)
c.1970T>C (p.Ile657Thr)
Xg.108668349T>GCA413848448COL4A5c.3635T>G (p.Ile1212Ser)
c.3311T>G (p.Ile1104Ser)
c.1208T>G (p.Ile403Ser)
c.3650T>G (p.Ile1217Ser)
c.1970T>G (p.Ile657Ser)
Xg.108668350T>ACA517922566COL4A5c.3636T>A (p.Ile1212=)
c.3312T>A (p.Ile1104=)
c.1209T>A (p.Ile403=)
c.3651T>A (p.Ile1217=)
c.1971T>A (p.Ile657=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108668350T>CCA517922567COL4A5c.3636T>C (p.Ile1212=)
c.3312T>C (p.Ile1104=)
c.1209T>C (p.Ile403=)
c.3651T>C (p.Ile1217=)
c.1971T>C (p.Ile657=)
Xg.108668350T>GCA413848450COL4A5c.3636T>G (p.Ile1212Met)
c.3312T>G (p.Ile1104Met)
c.1209T>G (p.Ile403Met)
c.3651T>G (p.Ile1217Met)
c.1971T>G (p.Ile657Met)
Xg.108668350T=CA2450712925COL4A5c.3636T= (p.Ile1212=)
c.3312T= (p.Ile1104=)
c.1209T= (p.Ile403=)
c.3651T= (p.Ile1217=)
c.1971T= (p.Ile657=)
Xg.108668351C>ACA413848452COL4A5c.3637C>A (p.Pro1213Thr)
c.3313C>A (p.Pro1105Thr)
c.1210C>A (p.Pro404Thr)
c.3652C>A (p.Pro1218Thr)
c.1972C>A (p.Pro658Thr)
 gnomAD v4
Xg.108668351C=CA2450712926COL4A5c.3637C= (p.Pro1213=)
c.3313C= (p.Pro1105=)
c.1210C= (p.Pro404=)
c.3652C= (p.Pro1218=)
c.1972C= (p.Pro658=)
Xg.108668351C>GCA413848454COL4A5c.3637C>G (p.Pro1213Ala)
c.3313C>G (p.Pro1105Ala)
c.1210C>G (p.Pro404Ala)
c.3652C>G (p.Pro1218Ala)
c.1972C>G (p.Pro658Ala)
Xg.108668351C>TCA334046734COL4A5c.3637C>T (p.Pro1213Ser)
c.3313C>T (p.Pro1105Ser)
c.1210C>T (p.Pro404Ser)
c.3652C>T (p.Pro1218Ser)
c.1972C>T (p.Pro658Ser)
 dbSNP
Xg.108668352C>ACA413848456COL4A5c.3638C>A (p.Pro1213Gln)
c.3314C>A (p.Pro1105Gln)
c.1211C>A (p.Pro404Gln)
c.3653C>A (p.Pro1218Gln)
c.1973C>A (p.Pro658Gln)
Xg.108668352C=CA2450712927COL4A5c.3638C= (p.Pro1213=)
c.3314C= (p.Pro1105=)
c.1211C= (p.Pro404=)
c.3653C= (p.Pro1218=)
c.1973C= (p.Pro658=)
Xg.108668352C>GCA413848460COL4A5c.3638C>G (p.Pro1213Arg)
c.3314C>G (p.Pro1105Arg)
c.1211C>G (p.Pro404Arg)
c.3653C>G (p.Pro1218Arg)
c.1973C>G (p.Pro658Arg)
Xg.108668352C>TCA334046735COL4A5c.3638C>T (p.Pro1213Leu)
c.3314C>T (p.Pro1105Leu)
c.1211C>T (p.Pro404Leu)
c.3653C>T (p.Pro1218Leu)
c.1973C>T (p.Pro658Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108668353A>CCA517922568COL4A5c.3639A>C (p.Pro1213=)
c.3315A>C (p.Pro1105=)
c.1212A>C (p.Pro404=)
c.3654A>C (p.Pro1218=)
c.1974A>C (p.Pro658=)
 gnomAD v4
Xg.108668353A>GCA517922569COL4A5c.3639A>G (p.Pro1213=)
c.3315A>G (p.Pro1105=)
c.1212A>G (p.Pro404=)
c.3654A>G (p.Pro1218=)
c.1974A>G (p.Pro658=)
 gnomAD v4
Xg.108668353A>TCA517922570COL4A5c.3639A>T (p.Pro1213=)
c.3315A>T (p.Pro1105=)
c.1212A>T (p.Pro404=)
c.3654A>T (p.Pro1218=)
c.1974A>T (p.Pro658=)
Xg.108668354G>ACA413848463COL4A5c.3640G>A (p.Gly1214Arg)
c.3316G>A (p.Gly1106Arg)
c.1213G>A (p.Gly405Arg)
c.3655G>A (p.Gly1219Arg)
c.1975G>A (p.Gly659Arg)
 ClinVar dbSNP
Xg.108668354G>CCA413848465COL4A5c.3640G>C (p.Gly1214Arg)
c.3316G>C (p.Gly1106Arg)
c.1213G>C (p.Gly405Arg)
c.3655G>C (p.Gly1219Arg)
c.1975G>C (p.Gly659Arg)
Xg.108668354G>TCA413848464COL4A5c.3640G>T (p.Gly1214Ter)
c.3316G>T (p.Gly1106Ter)
c.1213G>T (p.Gly405Ter)
c.3655G>T (p.Gly1219Ter)
c.1975G>T (p.Gly659Ter)
Xg.108668355G>ACA258916COL4A5c.3641G>A (p.Gly1214Glu)
c.3317G>A (p.Gly1106Glu)
c.1214G>A (p.Gly405Glu)
c.3656G>A (p.Gly1219Glu)
c.1976G>A (p.Gly659Glu)
 dbSNP
Xg.108668355G>CCA413848470COL4A5c.3641G>C (p.Gly1214Ala)
c.3317G>C (p.Gly1106Ala)
c.1214G>C (p.Gly405Ala)
c.3656G>C (p.Gly1219Ala)
c.1976G>C (p.Gly659Ala)
Xg.108668355G=CA2450712928COL4A5c.3641G= (p.Gly1214=)
c.3317G= (p.Gly1106=)
c.1214G= (p.Gly405=)
c.3656G= (p.Gly1219=)
c.1976G= (p.Gly659=)
Xg.108668355G>TCA413848468COL4A5c.3641G>T (p.Gly1214Val)
c.3317G>T (p.Gly1106Val)
c.1214G>T (p.Gly405Val)
c.3656G>T (p.Gly1219Val)
c.1976G>T (p.Gly659Val)
Xg.108668356A>CCA517922571COL4A5c.3642A>C (p.Gly1214=)
c.3318A>C (p.Gly1106=)
c.1215A>C (p.Gly405=)
c.3657A>C (p.Gly1219=)
c.1977A>C (p.Gly659=)
Xg.108668356A>GCA517922572COL4A5c.3642A>G (p.Gly1214=)
c.3318A>G (p.Gly1106=)
c.1215A>G (p.Gly405=)
c.3657A>G (p.Gly1219=)
c.1977A>G (p.Gly659=)
Xg.108668356A>TCA517922573COL4A5c.3642A>T (p.Gly1214=)
c.3318A>T (p.Gly1106=)
c.1215A>T (p.Gly405=)
c.3657A>T (p.Gly1219=)
c.1977A>T (p.Gly659=)
Xg.108668357A=CA2450712929COL4A5c.3643A= (p.Asn1215=)
c.3319A= (p.Asn1107=)
c.1216A= (p.Asn406=)
c.3658A= (p.Asn1220=)
c.1978A= (p.Asn660=)
Xg.108668357A>CCA413848473COL4A5c.3643A>C (p.Asn1215His)
c.3319A>C (p.Asn1107His)
c.1216A>C (p.Asn406His)
c.3658A>C (p.Asn1220His)
c.1978A>C (p.Asn660His)
Xg.108668357A>GCA413848476COL4A5c.3643A>G (p.Asn1215Asp)
c.3319A>G (p.Asn1107Asp)
c.1216A>G (p.Asn406Asp)
c.3658A>G (p.Asn1220Asp)
c.1978A>G (p.Asn660Asp)
 dbSNP
Xg.108668357A>TCA413848474COL4A5c.3643A>T (p.Asn1215Tyr)
c.3319A>T (p.Asn1107Tyr)
c.1216A>T (p.Asn406Tyr)
c.3658A>T (p.Asn1220Tyr)
c.1978A>T (p.Asn660Tyr)
Xg.108668358A>CCA413848479COL4A5c.3644A>C (p.Asn1215Thr)
c.3320A>C (p.Asn1107Thr)
c.1217A>C (p.Asn406Thr)
c.3659A>C (p.Asn1220Thr)
c.1979A>C (p.Asn660Thr)
Xg.108668358A>GCA413848480COL4A5c.3644A>G (p.Asn1215Ser)
c.3320A>G (p.Asn1107Ser)
c.1217A>G (p.Asn406Ser)
c.3659A>G (p.Asn1220Ser)
c.1979A>G (p.Asn660Ser)
Xg.108668358A>TCA413848483COL4A5c.3644A>T (p.Asn1215Ile)
c.3320A>T (p.Asn1107Ile)
c.1217A>T (p.Asn406Ile)
c.3659A>T (p.Asn1220Ile)
c.1979A>T (p.Asn660Ile)
Xg.108668359T>ACA413848485COL4A5c.3645T>A (p.Asn1215Lys)
c.3321T>A (p.Asn1107Lys)
c.1218T>A (p.Asn406Lys)
c.3660T>A (p.Asn1220Lys)
c.1980T>A (p.Asn660Lys)
Xg.108668359T>CCA517922574COL4A5c.3645T>C (p.Asn1215=)
c.3321T>C (p.Asn1107=)
c.1218T>C (p.Asn406=)
c.3660T>C (p.Asn1220=)
c.1980T>C (p.Asn660=)
Xg.108668359T>GCA413848486COL4A5c.3645T>G (p.Asn1215Lys)
c.3321T>G (p.Asn1107Lys)
c.1218T>G (p.Asn406Lys)
c.3660T>G (p.Asn1220Lys)
c.1980T>G (p.Asn660Lys)
Xg.108668359_108668360delinsTCCA2450712930COL4A5c.3645_3646delinsTC (p.Asn1215=)
c.3321_3322delinsTC (p.Asn1107=)
c.1218_1219delinsTC (p.Asn406=)
c.3660_3661delinsTC (p.Asn1220=)
c.1980_1981delinsTC (p.Asn660=)
Xg.108668360C>ACA413848489COL4A5c.3646C>A (p.Pro1216Thr)
c.3322C>A (p.Pro1108Thr)
c.1219C>A (p.Pro407Thr)
c.3661C>A (p.Pro1221Thr)
c.1981C>A (p.Pro661Thr)
Xg.108668360C=CA2450712931COL4A5c.3646C= (p.Pro1216=)
c.3322C= (p.Pro1108=)
c.1219C= (p.Pro407=)
c.3661C= (p.Pro1221=)
c.1981C= (p.Pro661=)
Xg.108668360C>GCA413848491COL4A5c.3646C>G (p.Pro1216Ala)
c.3322C>G (p.Pro1108Ala)
c.1219C>G (p.Pro407Ala)
c.3661C>G (p.Pro1221Ala)
c.1981C>G (p.Pro661Ala)
Xg.108668360C>TCA10489156COL4A5c.3646C>T (p.Pro1216Ser)
c.3322C>T (p.Pro1108Ser)
c.1219C>T (p.Pro407Ser)
c.3661C>T (p.Pro1221Ser)
c.1981C>T (p.Pro661Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.108668361delCA258919COL4A5c.3647del (p.Pro1216LeufsTer?)
c.3323del (p.Pro1108LeufsTer?)
c.1220del (p.Pro407LeufsTer?)
c.3662del (p.Pro1221LeufsTer?)
c.1982del (p.Pro661LeufsTer?)
 dbSNP
Xg.108668361C>ACA413848495COL4A5c.3647C>A (p.Pro1216His)
c.3323C>A (p.Pro1108His)
c.1220C>A (p.Pro407His)
c.3662C>A (p.Pro1221His)
c.1982C>A (p.Pro661His)
Xg.108668361C=CA2450712932COL4A5c.3647C= (p.Pro1216=)
c.3323C= (p.Pro1108=)
c.1220C= (p.Pro407=)
c.3662C= (p.Pro1221=)
c.1982C= (p.Pro661=)
Xg.108668361C>GCA413848497COL4A5c.3647C>G (p.Pro1216Arg)
c.3323C>G (p.Pro1108Arg)
c.1220C>G (p.Pro407Arg)
c.3662C>G (p.Pro1221Arg)
c.1982C>G (p.Pro661Arg)
Xg.108668361C>TCA413848499COL4A5c.3647C>T (p.Pro1216Leu)
c.3323C>T (p.Pro1108Leu)
c.1220C>T (p.Pro407Leu)
c.3662C>T (p.Pro1221Leu)
c.1982C>T (p.Pro661Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668362T>ACA517922575COL4A5c.3648T>A (p.Pro1216=)
c.3324T>A (p.Pro1108=)
c.1221T>A (p.Pro407=)
c.3663T>A (p.Pro1221=)
c.1983T>A (p.Pro661=)
Xg.108668362T>CCA517922576COL4A5c.3648T>C (p.Pro1216=)
c.3324T>C (p.Pro1108=)
c.1221T>C (p.Pro407=)
c.3663T>C (p.Pro1221=)
c.1983T>C (p.Pro661=)
Xg.108668362T>GCA517922577COL4A5c.3648T>G (p.Pro1216=)
c.3324T>G (p.Pro1108=)
c.1221T>G (p.Pro407=)
c.3663T>G (p.Pro1221=)
c.1983T>G (p.Pro661=)
Xg.108668363G>ACA413848501COL4A5c.3649G>A (p.Gly1217Ser)
c.3325G>A (p.Gly1109Ser)
c.1222G>A (p.Gly408Ser)
c.3664G>A (p.Gly1222Ser)
c.1984G>A (p.Gly662Ser)
Xg.108668363G>CCA413848504COL4A5c.3649G>C (p.Gly1217Arg)
c.3325G>C (p.Gly1109Arg)
c.1222G>C (p.Gly408Arg)
c.3664G>C (p.Gly1222Arg)
c.1984G>C (p.Gly662Arg)
Xg.108668363G>TCA413848502COL4A5c.3649G>T (p.Gly1217Cys)
c.3325G>T (p.Gly1109Cys)
c.1222G>T (p.Gly408Cys)
c.3664G>T (p.Gly1222Cys)
c.1984G>T (p.Gly662Cys)
Xg.108668364G>ACA413848506COL4A5c.3650G>A (p.Gly1217Asp)
c.3326G>A (p.Gly1109Asp)
c.1223G>A (p.Gly408Asp)
c.3665G>A (p.Gly1222Asp)
c.1985G>A (p.Gly662Asp)
 ClinVar
Xg.108668364G>CCA413848508COL4A5c.3650G>C (p.Gly1217Ala)
c.3326G>C (p.Gly1109Ala)
c.1223G>C (p.Gly408Ala)
c.3665G>C (p.Gly1222Ala)
c.1985G>C (p.Gly662Ala)
Xg.108668364G=CA2450712933COL4A5c.3650G= (p.Gly1217=)
c.3326G= (p.Gly1109=)
c.1223G= (p.Gly408=)
c.3665G= (p.Gly1222=)
c.1985G= (p.Gly662=)
Xg.108668364G>TCA413848510COL4A5c.3650G>T (p.Gly1217Val)
c.3326G>T (p.Gly1109Val)
c.1223G>T (p.Gly408Val)
c.3665G>T (p.Gly1222Val)
c.1985G>T (p.Gly662Val)
Xg.108668365C>ACA517922578COL4A5c.3651C>A (p.Gly1217=)
c.3327C>A (p.Gly1109=)
c.1224C>A (p.Gly408=)
c.3666C>A (p.Gly1222=)
c.1986C>A (p.Gly662=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.108668365C=CA2450712934COL4A5c.3651C= (p.Gly1217=)
c.3327C= (p.Gly1109=)
c.1224C= (p.Gly408=)
c.3666C= (p.Gly1222=)
c.1986C= (p.Gly662=)
Xg.108668365C>GCA517922579COL4A5c.3651C>G (p.Gly1217=)
c.3327C>G (p.Gly1109=)
c.1224C>G (p.Gly408=)
c.3666C>G (p.Gly1222=)
c.1986C>G (p.Gly662=)
Xg.108668365C>TCA517922580COL4A5c.3651C>T (p.Gly1217=)
c.3327C>T (p.Gly1109=)
c.1224C>T (p.Gly408=)
c.3666C>T (p.Gly1222=)
c.1986C>T (p.Gly662=)
Xg.108668366C>ACA413848512COL4A5c.3652C>A (p.Leu1218Ile)
c.3328C>A (p.Leu1110Ile)
c.1225C>A (p.Leu409Ile)
c.3667C>A (p.Leu1223Ile)
c.1987C>A (p.Leu663Ile)
Xg.108668366C>GCA413848514COL4A5c.3652C>G (p.Leu1218Val)
c.3328C>G (p.Leu1110Val)
c.1225C>G (p.Leu409Val)
c.3667C>G (p.Leu1223Val)
c.1987C>G (p.Leu663Val)
Xg.108668366C>TCA413848516COL4A5c.3652C>T (p.Leu1218Phe)
c.3328C>T (p.Leu1110Phe)
c.1225C>T (p.Leu409Phe)
c.3667C>T (p.Leu1223Phe)
c.1987C>T (p.Leu663Phe)
 ClinVar dbSNP
Xg.108668369_108668394delCA2697544720COL4A5c.3655_3680del (p.Pro1219SerfsTer24)
c.3331_3356del (p.Pro1111SerfsTer24)
c.1228_1253del (p.Pro410SerfsTer24)
c.3670_3695del (p.Pro1224SerfsTer24)
c.1990_2015del (p.Pro664SerfsTer24)
 ClinVar
Xg.108668367T>ACA413848520COL4A5c.3653T>A (p.Leu1218His)
c.3329T>A (p.Leu1110His)
c.1226T>A (p.Leu409His)
c.3668T>A (p.Leu1223His)
c.1988T>A (p.Leu663His)
Xg.108668367T>CCA413848522COL4A5c.3653T>C (p.Leu1218Pro)
c.3329T>C (p.Leu1110Pro)
c.1226T>C (p.Leu409Pro)
c.3668T>C (p.Leu1223Pro)
c.1988T>C (p.Leu663Pro)
Xg.108668367T>GCA413848523COL4A5c.3653T>G (p.Leu1218Arg)
c.3329T>G (p.Leu1110Arg)
c.1226T>G (p.Leu409Arg)
c.3668T>G (p.Leu1223Arg)
c.1988T>G (p.Leu663Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668367T=CA2450712936COL4A5c.3653T= (p.Leu1218=)
c.3329T= (p.Leu1110=)
c.1226T= (p.Leu409=)
c.3668T= (p.Leu1223=)
c.1988T= (p.Leu663=)
Xg.108668367_108668439delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTCCA2450712935COL4A5c.3653_3725delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1218=)
c.3329_3401delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1110=)
c.1226_1298delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu409=)
c.3668_3740delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1223=)
c.1988_2060delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu663=)
Xg.108668368T>ACA517922643COL4A5c.3654T>A (p.Leu1218=)
c.3330T>A (p.Leu1110=)
c.1227T>A (p.Leu409=)
c.3669T>A (p.Leu1223=)
c.1989T>A (p.Leu663=)
Xg.108668368T>CCA517922645COL4A5c.3654T>C (p.Leu1218=)
c.3330T>C (p.Leu1110=)
c.1227T>C (p.Leu409=)
c.3669T>C (p.Leu1223=)
c.1989T>C (p.Leu663=)
Xg.108668368T>GCA517922646COL4A5c.3654T>G (p.Leu1218=)
c.3330T>G (p.Leu1110=)
c.1227T>G (p.Leu409=)
c.3669T>G (p.Leu1223=)
c.1989T>G (p.Leu663=)
Xg.108668371_108668442delCA258920COL4A5c.3657_3728del (p.Gly1220_Pro1243del)
c.3333_3404del (p.Gly1112_Pro1135del)
c.1230_1301del (p.Gly411_Pro434del)
c.3672_3743del (p.Gly1225_Pro1248del)
c.1992_2063del (p.Gly665_Pro688del)
 dbSNP
Xg.108668369C>ACA413848529COL4A5c.3655C>A (p.Pro1219Thr)
c.3331C>A (p.Pro1111Thr)
c.1228C>A (p.Pro410Thr)
c.3670C>A (p.Pro1224Thr)
c.1990C>A (p.Pro664Thr)
Xg.108668369C>GCA413848531COL4A5c.3655C>G (p.Pro1219Ala)
c.3331C>G (p.Pro1111Ala)
c.1228C>G (p.Pro410Ala)
c.3670C>G (p.Pro1224Ala)
c.1990C>G (p.Pro664Ala)
Xg.108668369C>TCA413848527COL4A5c.3655C>T (p.Pro1219Ser)
c.3331C>T (p.Pro1111Ser)
c.1228C>T (p.Pro410Ser)
c.3670C>T (p.Pro1224Ser)
c.1990C>T (p.Pro664Ser)
 COSMIC COSMIC
Xg.108668370delCA2579676917COL4A5c.3656del (p.Pro1219GlnfsTer?)
c.3332del (p.Pro1111GlnfsTer?)
c.1229del (p.Pro410GlnfsTer?)
c.3671del (p.Pro1224GlnfsTer?)
c.1991del (p.Pro664GlnfsTer?)
Xg.108668370C>ACA413848533COL4A5c.3656C>A (p.Pro1219Gln)
c.3332C>A (p.Pro1111Gln)
c.1229C>A (p.Pro410Gln)
c.3671C>A (p.Pro1224Gln)
c.1991C>A (p.Pro664Gln)
Xg.108668370C>GCA413848535COL4A5c.3656C>G (p.Pro1219Arg)
c.3332C>G (p.Pro1111Arg)
c.1229C>G (p.Pro410Arg)
c.3671C>G (p.Pro1224Arg)
c.1991C>G (p.Pro664Arg)
Xg.108668370C>TCA413848538COL4A5c.3656C>T (p.Pro1219Leu)
c.3332C>T (p.Pro1111Leu)
c.1229C>T (p.Pro410Leu)
c.3671C>T (p.Pro1224Leu)
c.1991C>T (p.Pro664Leu)
 ClinVar COSMIC COSMIC
Xg.108668371A>CCA517922650COL4A5c.3657A>C (p.Pro1219=)
c.3333A>C (p.Pro1111=)
c.1230A>C (p.Pro410=)
c.3672A>C (p.Pro1224=)
c.1992A>C (p.Pro664=)
Xg.108668371A>GCA517922652COL4A5c.3657A>G (p.Pro1219=)
c.3333A>G (p.Pro1111=)
c.1230A>G (p.Pro410=)
c.3672A>G (p.Pro1224=)
c.1992A>G (p.Pro664=)
 COSMIC COSMIC
Xg.108668371A>TCA517922654COL4A5c.3657A>T (p.Pro1219=)
c.3333A>T (p.Pro1111=)
c.1230A>T (p.Pro410=)
c.3672A>T (p.Pro1224=)
c.1992A>T (p.Pro664=)
Xg.108668372G>ACA413848541COL4A5c.3658G>A (p.Gly1220Ser)
c.3334G>A (p.Gly1112Ser)
c.1231G>A (p.Gly411Ser)
c.3673G>A (p.Gly1225Ser)
c.1993G>A (p.Gly665Ser)
Xg.108668372G>CCA413848543COL4A5c.3658G>C (p.Gly1220Arg)
c.3334G>C (p.Gly1112Arg)
c.1231G>C (p.Gly411Arg)
c.3673G>C (p.Gly1225Arg)
c.1993G>C (p.Gly665Arg)
Xg.108668372G>TCA413848545COL4A5c.3658G>T (p.Gly1220Cys)
c.3334G>T (p.Gly1112Cys)
c.1231G>T (p.Gly411Cys)
c.3673G>T (p.Gly1225Cys)
c.1993G>T (p.Gly665Cys)
Xg.108668373G>ACA258923COL4A5c.3659G>A (p.Gly1220Asp)
c.3335G>A (p.Gly1112Asp)
c.1232G>A (p.Gly411Asp)
c.3674G>A (p.Gly1225Asp)
c.1994G>A (p.Gly665Asp)
 ClinVar dbSNP
Xg.108668373G>CCA413848550COL4A5c.3659G>C (p.Gly1220Ala)
c.3335G>C (p.Gly1112Ala)
c.1232G>C (p.Gly411Ala)
c.3674G>C (p.Gly1225Ala)
c.1994G>C (p.Gly665Ala)
Xg.108668373G=CA2450712937COL4A5c.3659G= (p.Gly1220=)
c.3335G= (p.Gly1112=)
c.1232G= (p.Gly411=)
c.3674G= (p.Gly1225=)
c.1994G= (p.Gly665=)
Xg.108668373G>TCA413848553COL4A5c.3659G>T (p.Gly1220Val)
c.3335G>T (p.Gly1112Val)
c.1232G>T (p.Gly411Val)
c.3674G>T (p.Gly1225Val)
c.1994G>T (p.Gly665Val)
 ClinVar dbSNP
Xg.108668374T>ACA517922656COL4A5c.3660T>A (p.Gly1220=)
c.3336T>A (p.Gly1112=)
c.1233T>A (p.Gly411=)
c.3675T>A (p.Gly1225=)
c.1995T>A (p.Gly665=)
Xg.108668374T>CCA517922658COL4A5c.3660T>C (p.Gly1220=)
c.3336T>C (p.Gly1112=)
c.1233T>C (p.Gly411=)
c.3675T>C (p.Gly1225=)
c.1995T>C (p.Gly665=)
Xg.108668374T>GCA517922660COL4A5c.3660T>G (p.Gly1220=)
c.3336T>G (p.Gly1112=)
c.1233T>G (p.Gly411=)
c.3675T>G (p.Gly1225=)
c.1995T>G (p.Gly665=)
Xg.108668375C>ACA413848555COL4A5c.3661C>A (p.Pro1221Thr)
c.3337C>A (p.Pro1113Thr)
c.1234C>A (p.Pro412Thr)
c.3676C>A (p.Pro1226Thr)
c.1996C>A (p.Pro666Thr)
Xg.108668375C>GCA413848558COL4A5c.3661C>G (p.Pro1221Ala)
c.3337C>G (p.Pro1113Ala)
c.1234C>G (p.Pro412Ala)
c.3676C>G (p.Pro1226Ala)
c.1996C>G (p.Pro666Ala)
Xg.108668375C>TCA413848561COL4A5c.3661C>T (p.Pro1221Ser)
c.3337C>T (p.Pro1113Ser)
c.1234C>T (p.Pro412Ser)
c.3676C>T (p.Pro1226Ser)
c.1996C>T (p.Pro666Ser)
 COSMIC COSMIC
Xg.108668376C>ACA413848569COL4A5c.3662C>A (p.Pro1221Gln)
c.3338C>A (p.Pro1113Gln)
c.1235C>A (p.Pro412Gln)
c.3677C>A (p.Pro1226Gln)
c.1997C>A (p.Pro666Gln)
Xg.108668376C=CA2450712938COL4A5c.3662C= (p.Pro1221=)
c.3338C= (p.Pro1113=)
c.1235C= (p.Pro412=)
c.3677C= (p.Pro1226=)
c.1997C= (p.Pro666=)
Xg.108668376C>GCA413848564COL4A5c.3662C>G (p.Pro1221Arg)
c.3338C>G (p.Pro1113Arg)
c.1235C>G (p.Pro412Arg)
c.3677C>G (p.Pro1226Arg)
c.1997C>G (p.Pro666Arg)
Xg.108668376C>TCA334046767COL4A5c.3662C>T (p.Pro1221Leu)
c.3338C>T (p.Pro1113Leu)
c.1235C>T (p.Pro412Leu)
c.3677C>T (p.Pro1226Leu)
c.1997C>T (p.Pro666Leu)
 dbSNP
Xg.108668377A>CCA517922662COL4A5c.3663A>C (p.Pro1221=)
c.3339A>C (p.Pro1113=)
c.1236A>C (p.Pro412=)
c.3678A>C (p.Pro1226=)
c.1998A>C (p.Pro666=)
Xg.108668377A>GCA517922664COL4A5c.3663A>G (p.Pro1221=)
c.3339A>G (p.Pro1113=)
c.1236A>G (p.Pro412=)
c.3678A>G (p.Pro1226=)
c.1998A>G (p.Pro666=)
 gnomAD v4
Xg.108668377A>TCA517922666COL4A5c.3663A>T (p.Pro1221=)
c.3339A>T (p.Pro1113=)
c.1236A>T (p.Pro412=)
c.3678A>T (p.Pro1226=)
c.1998A>T (p.Pro666=)
Xg.108668378A=CA2450712939COL4A5c.3664A= (p.Lys1222=)
c.3340A= (p.Lys1114=)
c.1237A= (p.Lys413=)
c.3679A= (p.Lys1227=)
c.1999A= (p.Lys667=)
Xg.108668378A>CCA413848573COL4A5c.3664A>C (p.Lys1222Gln)
c.3340A>C (p.Lys1114Gln)
c.1237A>C (p.Lys413Gln)
c.3679A>C (p.Lys1227Gln)
c.1999A>C (p.Lys667Gln)
 gnomAD v4
Xg.108668378A>GCA413848576COL4A5c.3664A>G (p.Lys1222Glu)
c.3340A>G (p.Lys1114Glu)
c.1237A>G (p.Lys413Glu)
c.3679A>G (p.Lys1227Glu)
c.1999A>G (p.Lys667Glu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108668378A>TCA413848579COL4A5c.3664A>T (p.Lys1222Ter)
c.3340A>T (p.Lys1114Ter)
c.1237A>T (p.Lys413Ter)
c.3679A>T (p.Lys1227Ter)
c.1999A>T (p.Lys667Ter)
Xg.108668379A>CCA413848582COL4A5c.3665A>C (p.Lys1222Thr)
c.3341A>C (p.Lys1114Thr)
c.1238A>C (p.Lys413Thr)
c.3680A>C (p.Lys1227Thr)
c.2000A>C (p.Lys667Thr)
Xg.108668379A>GCA413848584COL4A5c.3665A>G (p.Lys1222Arg)
c.3341A>G (p.Lys1114Arg)
c.1238A>G (p.Lys413Arg)
c.3680A>G (p.Lys1227Arg)
c.2000A>G (p.Lys667Arg)
Xg.108668379A>TCA413848587COL4A5c.3665A>T (p.Lys1222Met)
c.3341A>T (p.Lys1114Met)
c.1238A>T (p.Lys413Met)
c.3680A>T (p.Lys1227Met)
c.2000A>T (p.Lys667Met)

Number of alleles fetched