Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108696273_108696276delCA2564748768COL4A5c.4995-24_4995-21del (n.4995-24_4995-21del)
c.4977-24_4977-21del (n.4977-24_4977-21del)
n.1489-24_1489-21del
n.2659_2662del
c.220-24_220-21del (n.220-24_220-21del)
c.325-24_325-21del
c.4986-24_4986-21del (n.4986-24_4986-21del)
c.4671-24_4671-21del (n.4671-24_4671-21del)
c.2568-24_2568-21del (n.2568-24_2568-21del)
c.5010-24_5010-21del (n.5010-24_5010-21del)
c.5001-24_5001-21del (n.5001-24_5001-21del)
c.4992-24_4992-21del (n.4992-24_4992-21del)
c.3330-24_3330-21del (n.3330-24_3330-21del)
Xg.108696276G>ACA643637387COL4A5c.4995-21G>A (n.4995-21G>A)
c.4977-21G>A (n.4977-21G>A)
n.1489-21G>A
n.2662G>A
c.220-21G>A (n.220-21G>A)
c.325-21G>A
c.4986-21G>A (n.4986-21G>A)
c.4671-21G>A (n.4671-21G>A)
c.2568-21G>A (n.2568-21G>A)
c.5010-21G>A (n.5010-21G>A)
c.5001-21G>A (n.5001-21G>A)
c.4992-21G>A (n.4992-21G>A)
c.3330-21G>A (n.3330-21G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.108696276G=CA2450722053COL4A5c.4995-21G= (n.4995-21G=)
c.4977-21G= (n.4977-21G=)
n.1489-21G=
n.2662G=
c.220-21G= (n.220-21G=)
c.325-21G=
c.4986-21G= (n.4986-21G=)
c.4671-21G= (n.4671-21G=)
c.2568-21G= (n.2568-21G=)
c.5010-21G= (n.5010-21G=)
c.5001-21G= (n.5001-21G=)
c.4992-21G= (n.4992-21G=)
c.3330-21G= (n.3330-21G=)
Xg.108696276G>TCA10489454COL4A5c.4995-21G>T (n.4995-21G>T)
c.4977-21G>T (n.4977-21G>T)
n.1489-21G>T
n.2662G>T
c.220-21G>T (n.220-21G>T)
c.325-21G>T
c.4986-21G>T (n.4986-21G>T)
c.4671-21G>T (n.4671-21G>T)
c.2568-21G>T (n.2568-21G>T)
c.5010-21G>T (n.5010-21G>T)
c.5001-21G>T (n.5001-21G>T)
c.4992-21G>T (n.4992-21G>T)
c.3330-21G>T (n.3330-21G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108696277T>ACA10489455COL4A5c.4995-20T>A (n.4995-20T>A)
c.4977-20T>A (n.4977-20T>A)
n.1489-20T>A
n.2663T>A
c.220-20T>A (n.220-20T>A)
c.325-20T>A
c.4986-20T>A (n.4986-20T>A)
c.4671-20T>A (n.4671-20T>A)
c.2568-20T>A (n.2568-20T>A)
c.5010-20T>A (n.5010-20T>A)
c.5001-20T>A (n.5001-20T>A)
c.4992-20T>A (n.4992-20T>A)
c.3330-20T>A (n.3330-20T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108696277T>CCA2694415905COL4A5c.4995-20T>C (n.4995-20T>C)
c.4977-20T>C (n.4977-20T>C)
n.1489-20T>C
n.2663T>C
c.220-20T>C (n.220-20T>C)
c.325-20T>C
c.4986-20T>C (n.4986-20T>C)
c.4671-20T>C (n.4671-20T>C)
c.2568-20T>C (n.2568-20T>C)
c.5010-20T>C (n.5010-20T>C)
c.5001-20T>C (n.5001-20T>C)
c.4992-20T>C (n.4992-20T>C)
c.3330-20T>C (n.3330-20T>C)
 gnomAD v4
Xg.108696277T=CA2450722054COL4A5c.4995-20T= (n.4995-20T=)
c.4977-20T= (n.4977-20T=)
n.1489-20T=
n.2663T=
c.220-20T= (n.220-20T=)
c.325-20T=
c.4986-20T= (n.4986-20T=)
c.4671-20T= (n.4671-20T=)
c.2568-20T= (n.2568-20T=)
c.5010-20T= (n.5010-20T=)
c.5001-20T= (n.5001-20T=)
c.4992-20T= (n.4992-20T=)
c.3330-20T= (n.3330-20T=)
Xg.108696286_108696292delCA2694415904COL4A5c.4995-11_4995-5del (n.4995-11_4995-5del)
c.4977-11_4977-5del (n.4977-11_4977-5del)
n.1489-11_1489-5del
n.2672_2678del
c.220-11_220-5del (n.220-11_220-5del)
c.325-11_325-5del
c.4986-11_4986-5del (n.4986-11_4986-5del)
c.4671-11_4671-5del (n.4671-11_4671-5del)
c.2568-11_2568-5del (n.2568-11_2568-5del)
c.5010-11_5010-5del (n.5010-11_5010-5del)
c.5001-11_5001-5del (n.5001-11_5001-5del)
c.4992-11_4992-5del (n.4992-11_4992-5del)
c.3330-11_3330-5del (n.3330-11_3330-5del)
 gnomAD v4
Xg.108696278C>ACA2694415906COL4A5c.4995-19C>A (n.4995-19C>A)
c.4977-19C>A (n.4977-19C>A)
n.1489-19C>A
n.2664C>A
c.220-19C>A (n.220-19C>A)
c.325-19C>A
c.4986-19C>A (n.4986-19C>A)
c.4671-19C>A (n.4671-19C>A)
c.2568-19C>A (n.2568-19C>A)
c.5010-19C>A (n.5010-19C>A)
c.5001-19C>A (n.5001-19C>A)
c.4992-19C>A (n.4992-19C>A)
c.3330-19C>A (n.3330-19C>A)
 gnomAD v4
Xg.108696278C=CA2450722056COL4A5c.4995-19C= (n.4995-19C=)
c.4977-19C= (n.4977-19C=)
n.1489-19C=
n.2664C=
c.220-19C= (n.220-19C=)
c.325-19C=
c.4986-19C= (n.4986-19C=)
c.4671-19C= (n.4671-19C=)
c.2568-19C= (n.2568-19C=)
c.5010-19C= (n.5010-19C=)
c.5001-19C= (n.5001-19C=)
c.4992-19C= (n.4992-19C=)
c.3330-19C= (n.3330-19C=)
Xg.108696278C>TCA643637388COL4A5c.4995-19C>T (n.4995-19C>T)
c.4977-19C>T (n.4977-19C>T)
n.1489-19C>T
n.2664C>T
c.220-19C>T (n.220-19C>T)
c.325-19C>T
c.4986-19C>T (n.4986-19C>T)
c.4671-19C>T (n.4671-19C>T)
c.2568-19C>T (n.2568-19C>T)
c.5010-19C>T (n.5010-19C>T)
c.5001-19C>T (n.5001-19C>T)
c.4992-19C>T (n.4992-19C>T)
c.3330-19C>T (n.3330-19C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108696278_108696282delinsCTTATCA2450722055COL4A5c.4995-19_4995-15delinsCTTAT (n.4995-19_4995-15delinsCTTAT)
c.4977-19_4977-15delinsCTTAT (n.4977-19_4977-15delinsCTTAT)
n.1489-19_1489-15delinsCTTAT
n.2664_2668delinsCTTAT
c.220-19_220-15delinsCTTAT (n.220-19_220-15delinsCTTAT)
c.325-19_325-15delinsCTTAT
c.4986-19_4986-15delinsCTTAT (n.4986-19_4986-15delinsCTTAT)
c.4671-19_4671-15delinsCTTAT (n.4671-19_4671-15delinsCTTAT)
c.2568-19_2568-15delinsCTTAT (n.2568-19_2568-15delinsCTTAT)
c.5010-19_5010-15delinsCTTAT (n.5010-19_5010-15delinsCTTAT)
c.5001-19_5001-15delinsCTTAT (n.5001-19_5001-15delinsCTTAT)
c.4992-19_4992-15delinsCTTAT (n.4992-19_4992-15delinsCTTAT)
c.3330-19_3330-15delinsCTTAT (n.3330-19_3330-15delinsCTTAT)
Xg.108696279T>CCA2694415907COL4A5c.4995-18T>C (n.4995-18T>C)
c.4977-18T>C (n.4977-18T>C)
n.1489-18T>C
n.2665T>C
c.220-18T>C (n.220-18T>C)
c.325-18T>C
c.4986-18T>C (n.4986-18T>C)
c.4671-18T>C (n.4671-18T>C)
c.2568-18T>C (n.2568-18T>C)
c.5010-18T>C (n.5010-18T>C)
c.5001-18T>C (n.5001-18T>C)
c.4992-18T>C (n.4992-18T>C)
c.3330-18T>C (n.3330-18T>C)
 gnomAD v4
Xg.108696281_108696284delCA10489456COL4A5c.4995-16_4995-13del (n.4995-16_4995-13del)
c.4977-16_4977-13del (n.4977-16_4977-13del)
n.1489-16_1489-13del
n.2667_2670del
c.220-16_220-13del (n.220-16_220-13del)
c.325-16_325-13del
c.4986-16_4986-13del (n.4986-16_4986-13del)
c.4671-16_4671-13del (n.4671-16_4671-13del)
c.2568-16_2568-13del (n.2568-16_2568-13del)
c.5010-16_5010-13del (n.5010-16_5010-13del)
c.5001-16_5001-13del (n.5001-16_5001-13del)
c.4992-16_4992-13del (n.4992-16_4992-13del)
c.3330-16_3330-13del (n.3330-16_3330-13del)
 ClinVar dbSNP ExAC gnomAD v2
Xg.108696280T>CCA2694415908COL4A5c.4995-17T>C (n.4995-17T>C)
c.4977-17T>C (n.4977-17T>C)
n.1489-17T>C
n.2666T>C
c.220-17T>C (n.220-17T>C)
c.325-17T>C
c.4986-17T>C (n.4986-17T>C)
c.4671-17T>C (n.4671-17T>C)
c.2568-17T>C (n.2568-17T>C)
c.5010-17T>C (n.5010-17T>C)
c.5001-17T>C (n.5001-17T>C)
c.4992-17T>C (n.4992-17T>C)
c.3330-17T>C (n.3330-17T>C)
 gnomAD v4
Xg.108696281A=CA2450722057COL4A5c.4995-16A= (n.4995-16A=)
c.4977-16A= (n.4977-16A=)
n.1489-16A=
n.2667A=
c.220-16A= (n.220-16A=)
c.325-16A=
c.4986-16A= (n.4986-16A=)
c.4671-16A= (n.4671-16A=)
c.2568-16A= (n.2568-16A=)
c.5010-16A= (n.5010-16A=)
c.5001-16A= (n.5001-16A=)
c.4992-16A= (n.4992-16A=)
c.3330-16A= (n.3330-16A=)
Xg.108696281A>GCA643637389COL4A5c.4995-16A>G (n.4995-16A>G)
c.4977-16A>G (n.4977-16A>G)
n.1489-16A>G
n.2667A>G
c.220-16A>G (n.220-16A>G)
c.325-16A>G
c.4986-16A>G (n.4986-16A>G)
c.4671-16A>G (n.4671-16A>G)
c.2568-16A>G (n.2568-16A>G)
c.5010-16A>G (n.5010-16A>G)
c.5001-16A>G (n.5001-16A>G)
c.4992-16A>G (n.4992-16A>G)
c.3330-16A>G (n.3330-16A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108696282T>CCA2694415909COL4A5c.4995-15T>C (n.4995-15T>C)
c.4977-15T>C (n.4977-15T>C)
n.1489-15T>C
n.2668T>C
c.220-15T>C (n.220-15T>C)
c.325-15T>C
c.4986-15T>C (n.4986-15T>C)
c.4671-15T>C (n.4671-15T>C)
c.2568-15T>C (n.2568-15T>C)
c.5010-15T>C (n.5010-15T>C)
c.5001-15T>C (n.5001-15T>C)
c.4992-15T>C (n.4992-15T>C)
c.3330-15T>C (n.3330-15T>C)
 gnomAD v4
Xg.108696282_108696285delinsTTTCCA2450722058COL4A5c.4995-15_4995-12delinsTTTC (n.4995-15_4995-12delinsTTTC)
c.4977-15_4977-12delinsTTTC (n.4977-15_4977-12delinsTTTC)
n.1489-15_1489-12delinsTTTC
n.2668_2671delinsTTTC
c.220-15_220-12delinsTTTC (n.220-15_220-12delinsTTTC)
c.325-15_325-12delinsTTTC
c.4986-15_4986-12delinsTTTC (n.4986-15_4986-12delinsTTTC)
c.4671-15_4671-12delinsTTTC (n.4671-15_4671-12delinsTTTC)
c.2568-15_2568-12delinsTTTC (n.2568-15_2568-12delinsTTTC)
c.5010-15_5010-12delinsTTTC (n.5010-15_5010-12delinsTTTC)
c.5001-15_5001-12delinsTTTC (n.5001-15_5001-12delinsTTTC)
c.4992-15_4992-12delinsTTTC (n.4992-15_4992-12delinsTTTC)
c.3330-15_3330-12delinsTTTC (n.3330-15_3330-12delinsTTTC)
Xg.108696285_108696287delCA869828346COL4A5c.4995-12_4995-10del (n.4995-12_4995-10del)
c.4977-12_4977-10del (n.4977-12_4977-10del)
n.1489-12_1489-10del
n.2671_2673del
c.220-12_220-10del (n.220-12_220-10del)
c.325-12_325-10del
c.4986-12_4986-10del (n.4986-12_4986-10del)
c.4671-12_4671-10del (n.4671-12_4671-10del)
c.2568-12_2568-10del (n.2568-12_2568-10del)
c.5010-12_5010-10del (n.5010-12_5010-10del)
c.5001-12_5001-10del (n.5001-12_5001-10del)
c.4992-12_4992-10del (n.4992-12_4992-10del)
c.3330-12_3330-10del (n.3330-12_3330-10del)
 dbSNP gnomAD v3 gnomAD v4
Xg.108696284T>CCA2694415910COL4A5c.4995-13T>C (n.4995-13T>C)
c.4977-13T>C (n.4977-13T>C)
n.1489-13T>C
n.2670T>C
c.220-13T>C (n.220-13T>C)
c.325-13T>C
c.4986-13T>C (n.4986-13T>C)
c.4671-13T>C (n.4671-13T>C)
c.2568-13T>C (n.2568-13T>C)
c.5010-13T>C (n.5010-13T>C)
c.5001-13T>C (n.5001-13T>C)
c.4992-13T>C (n.4992-13T>C)
c.3330-13T>C (n.3330-13T>C)
 gnomAD v4
Xg.108696285C>ACA2694415911COL4A5c.4995-12C>A (n.4995-12C>A)
c.4977-12C>A (n.4977-12C>A)
n.1489-12C>A
n.2671C>A
c.220-12C>A (n.220-12C>A)
c.325-12C>A
c.4986-12C>A (n.4986-12C>A)
c.4671-12C>A (n.4671-12C>A)
c.2568-12C>A (n.2568-12C>A)
c.5010-12C>A (n.5010-12C>A)
c.5001-12C>A (n.5001-12C>A)
c.4992-12C>A (n.4992-12C>A)
c.3330-12C>A (n.3330-12C>A)
 gnomAD v4
Xg.108696285C>TCA2579677346COL4A5c.4995-12C>T (n.4995-12C>T)
c.4977-12C>T (n.4977-12C>T)
n.1489-12C>T
n.2671C>T
c.220-12C>T (n.220-12C>T)
c.325-12C>T
c.4986-12C>T (n.4986-12C>T)
c.4671-12C>T (n.4671-12C>T)
c.2568-12C>T (n.2568-12C>T)
c.5010-12C>T (n.5010-12C>T)
c.5001-12C>T (n.5001-12C>T)
c.4992-12C>T (n.4992-12C>T)
c.3330-12C>T (n.3330-12C>T)
Xg.108696286T>CCA2694415912COL4A5c.4995-11T>C (n.4995-11T>C)
c.4977-11T>C (n.4977-11T>C)
n.1489-11T>C
n.2672T>C
c.220-11T>C (n.220-11T>C)
c.325-11T>C
c.4986-11T>C (n.4986-11T>C)
c.4671-11T>C (n.4671-11T>C)
c.2568-11T>C (n.2568-11T>C)
c.5010-11T>C (n.5010-11T>C)
c.5001-11T>C (n.5001-11T>C)
c.4992-11T>C (n.4992-11T>C)
c.3330-11T>C (n.3330-11T>C)
 gnomAD v4
Xg.108696287T>CCA2694415913COL4A5c.4995-10T>C (n.4995-10T>C)
c.4977-10T>C (n.4977-10T>C)
n.1489-10T>C
n.2673T>C
c.220-10T>C (n.220-10T>C)
c.325-10T>C
c.4986-10T>C (n.4986-10T>C)
c.4671-10T>C (n.4671-10T>C)
c.2568-10T>C (n.2568-10T>C)
c.5010-10T>C (n.5010-10T>C)
c.5001-10T>C (n.5001-10T>C)
c.4992-10T>C (n.4992-10T>C)
c.3330-10T>C (n.3330-10T>C)
 gnomAD v4
Xg.108696291T>GCA2579677347COL4A5c.4995-6T>G (n.4995-6T>G)
c.4977-6T>G (n.4977-6T>G)
n.1489-6T>G
n.2677T>G
c.220-6T>G (n.220-6T>G)
c.325-6T>G
c.4986-6T>G (n.4986-6T>G)
c.4671-6T>G (n.4671-6T>G)
c.2568-6T>G (n.2568-6T>G)
c.5010-6T>G (n.5010-6T>G)
c.5001-6T>G (n.5001-6T>G)
c.4992-6T>G (n.4992-6T>G)
c.3330-6T>G (n.3330-6T>G)
 ClinVar gnomAD v4
Xg.108696294delCA2579677348COL4A5c.4995-3del (n.4995-3del)
c.4977-3del (n.4977-3del)
n.1489-3del
n.2680del
c.220-3del (n.220-3del)
c.325-3del
c.4986-3del (n.4986-3del)
c.4671-3del (n.4671-3del)
c.2568-3del (n.2568-3del)
c.5010-3del (n.5010-3del)
c.5001-3del (n.5001-3del)
c.4992-3del (n.4992-3del)
c.3330-3del (n.3330-3del)
Xg.108696294C>ACA2579677349COL4A5c.4995-3C>A (n.4995-3C>A)
c.4977-3C>A (n.4977-3C>A)
n.1489-3C>A
n.2680C>A
c.220-3C>A (n.220-3C>A)
c.325-3C>A
c.4986-3C>A (n.4986-3C>A)
c.4671-3C>A (n.4671-3C>A)
c.2568-3C>A (n.2568-3C>A)
c.5010-3C>A (n.5010-3C>A)
c.5001-3C>A (n.5001-3C>A)
c.4992-3C>A (n.4992-3C>A)
c.3330-3C>A (n.3330-3C>A)
Xg.108696294_108696296delinsCAGCA2450722059COL4A5c.4995-3_4995-1delinsCAG (n.4995-3_4995-1delinsCAG)
c.4977-3_4977-1delinsCAG (n.4977-3_4977-1delinsCAG)
n.1489-3_1489-1delinsCAG
n.2680_2682delinsCAG
c.220-3_220-1delinsCAG (n.220-3_220-1delinsCAG)
c.325-3_325-1delinsCAG
c.4986-3_4986-1delinsCAG (n.4986-3_4986-1delinsCAG)
c.4671-3_4671-1delinsCAG (n.4671-3_4671-1delinsCAG)
c.2568-3_2568-1delinsCAG (n.2568-3_2568-1delinsCAG)
c.5010-3_5010-1delinsCAG (n.5010-3_5010-1delinsCAG)
c.5001-3_5001-1delinsCAG (n.5001-3_5001-1delinsCAG)
c.4992-3_4992-1delinsCAG (n.4992-3_4992-1delinsCAG)
c.3330-3_3330-1delinsCAG (n.3330-3_3330-1delinsCAG)
Xg.108696295A=CA2450722060COL4A5c.4995-2A= (n.4995-2A=)
c.4977-2A= (n.4977-2A=)
n.1489-2A=
n.2681A=
c.220-2A= (n.220-2A=)
c.325-2A=
c.4986-2A= (n.4986-2A=)
c.4671-2A= (n.4671-2A=)
c.2568-2A= (n.2568-2A=)
c.5010-2A= (n.5010-2A=)
c.5001-2A= (n.5001-2A=)
c.4992-2A= (n.4992-2A=)
c.3330-2A= (n.3330-2A=)
Xg.108696295A>CCA414133023COL4A5c.4995-2A>C (n.4995-2A>C)
c.4977-2A>C (n.4977-2A>C)
n.1489-2A>C
n.2681A>C
c.220-2A>C (n.220-2A>C)
c.325-2A>C
c.4986-2A>C (n.4986-2A>C)
c.4671-2A>C (n.4671-2A>C)
c.2568-2A>C (n.2568-2A>C)
c.5010-2A>C (n.5010-2A>C)
c.5001-2A>C (n.5001-2A>C)
c.4992-2A>C (n.4992-2A>C)
c.3330-2A>C (n.3330-2A>C)
Xg.108696295A>GCA259141COL4A5c.4995-2A>G (n.4995-2A>G)
c.4977-2A>G (n.4977-2A>G)
n.1489-2A>G
n.2681A>G
c.220-2A>G (n.220-2A>G)
c.325-2A>G
c.4986-2A>G (n.4986-2A>G)
c.4671-2A>G (n.4671-2A>G)
c.2568-2A>G (n.2568-2A>G)
c.5010-2A>G (n.5010-2A>G)
c.5001-2A>G (n.5001-2A>G)
c.4992-2A>G (n.4992-2A>G)
c.3330-2A>G (n.3330-2A>G)
 dbSNP
Xg.108696295A>TCA414133024COL4A5c.4995-2A>T (n.4995-2A>T)
c.4977-2A>T (n.4977-2A>T)
n.1489-2A>T
n.2681A>T
c.220-2A>T (n.220-2A>T)
c.325-2A>T
c.4986-2A>T (n.4986-2A>T)
c.4671-2A>T (n.4671-2A>T)
c.2568-2A>T (n.2568-2A>T)
c.5010-2A>T (n.5010-2A>T)
c.5001-2A>T (n.5001-2A>T)
c.4992-2A>T (n.4992-2A>T)
c.3330-2A>T (n.3330-2A>T)
Xg.108696295_108696296delCA869828355COL4A5c.4995-2_4995-1del (n.4995-2_4995-1del)
c.4977-2_4977-1del (n.4977-2_4977-1del)
n.1489-2_1489-1del
n.2681_2682del
c.220-2_220-1del (n.220-2_220-1del)
c.325-2_325-1del
c.4986-2_4986-1del (n.4986-2_4986-1del)
c.4671-2_4671-1del (n.4671-2_4671-1del)
c.2568-2_2568-1del (n.2568-2_2568-1del)
c.5010-2_5010-1del (n.5010-2_5010-1del)
c.5001-2_5001-1del (n.5001-2_5001-1del)
c.4992-2_4992-1del (n.4992-2_4992-1del)
c.3330-2_3330-1del (n.3330-2_3330-1del)
 dbSNP
Xg.108696296G>ACA414133025COL4A5c.4995-1G>A (n.4995-1G>A)
c.4977-1G>A (n.4977-1G>A)
n.1489-1G>A
n.2682G>A
c.220-1G>A (n.220-1G>A)
c.325-1G>A
c.4986-1G>A (n.4986-1G>A)
c.4671-1G>A (n.4671-1G>A)
c.2568-1G>A (n.2568-1G>A)
c.5010-1G>A (n.5010-1G>A)
c.5001-1G>A (n.5001-1G>A)
c.4992-1G>A (n.4992-1G>A)
c.3330-1G>A (n.3330-1G>A)
Xg.108696296G>CCA414133026COL4A5c.4995-1G>C (n.4995-1G>C)
c.4977-1G>C (n.4977-1G>C)
n.1489-1G>C
n.2682G>C
c.220-1G>C (n.220-1G>C)
c.325-1G>C
c.4986-1G>C (n.4986-1G>C)
c.4671-1G>C (n.4671-1G>C)
c.2568-1G>C (n.2568-1G>C)
c.5010-1G>C (n.5010-1G>C)
c.5001-1G>C (n.5001-1G>C)
c.4992-1G>C (n.4992-1G>C)
c.3330-1G>C (n.3330-1G>C)
Xg.108696296G>TCA414133027COL4A5c.4995-1G>T (n.4995-1G>T)
c.4977-1G>T (n.4977-1G>T)
n.1489-1G>T
n.2682G>T
c.220-1G>T (n.220-1G>T)
c.325-1G>T
c.4986-1G>T (n.4986-1G>T)
c.4671-1G>T (n.4671-1G>T)
c.2568-1G>T (n.2568-1G>T)
c.5010-1G>T (n.5010-1G>T)
c.5001-1G>T (n.5001-1G>T)
c.4992-1G>T (n.4992-1G>T)
c.3330-1G>T (n.3330-1G>T)
 ClinVar dbSNP
Xg.108696297T>ACA414133028COL4A5c.4995T>A (p.Ser1665Arg)
c.4977T>A (p.Ser1659Arg)
n.1489T>A
n.2683T>A
c.220T>A (p.Ter74Lys)
c.325T>A
c.4986T>A (p.Ser1662Arg)
c.4671T>A (p.Ser1557Arg)
c.2568T>A (p.Ser856Arg)
c.5010T>A (p.Ser1670Arg)
c.5001T>A (p.Ser1667Arg)
c.4992T>A (p.Ser1664Arg)
c.3330T>A (p.Ser1110Arg)
Xg.108696297T>CCA414133029COL4A5c.4995T>C (p.Ser1665=)
c.4977T>C (p.Ser1659=)
n.1489T>C
n.2683T>C
c.220T>C (p.Ter74Gln)
c.325T>C
c.4986T>C (p.Ser1662=)
c.4671T>C (p.Ser1557=)
c.2568T>C (p.Ser856=)
c.5010T>C (p.Ser1670=)
c.5001T>C (p.Ser1667=)
c.4992T>C (p.Ser1664=)
c.3330T>C (p.Ser1110=)
Xg.108696297T>GCA414133030COL4A5c.4995T>G (p.Ser1665Arg)
c.4977T>G (p.Ser1659Arg)
n.1489T>G
n.2683T>G
c.220T>G (p.Ter74Glu)
c.325T>G
c.4986T>G (p.Ser1662Arg)
c.4671T>G (p.Ser1557Arg)
c.2568T>G (p.Ser856Arg)
c.5010T>G (p.Ser1670Arg)
c.5001T>G (p.Ser1667Arg)
c.4992T>G (p.Ser1664Arg)
c.3330T>G (p.Ser1110Arg)
Xg.108696298A>CCA414133031COL4A5c.4996A>C (p.Lys1666Gln)
c.4978A>C (p.Lys1660Gln)
n.1490A>C
n.2684A>C
c.221A>C (p.Ter74Ser)
c.326A>C
c.4987A>C (p.Lys1663Gln)
c.4672A>C (p.Lys1558Gln)
c.2569A>C (p.Lys857Gln)
c.5011A>C (p.Lys1671Gln)
c.5002A>C (p.Lys1668Gln)
c.4993A>C (p.Lys1665Gln)
c.3331A>C (p.Lys1111Gln)
Xg.108696298A>GCA414133033COL4A5c.4996A>G (p.Lys1666Glu)
c.4978A>G (p.Lys1660Glu)
n.1490A>G
n.2684A>G
c.221A>G (p.Ter74=)
c.326A>G
c.4987A>G (p.Lys1663Glu)
c.4672A>G (p.Lys1558Glu)
c.2569A>G (p.Lys857Glu)
c.5011A>G (p.Lys1671Glu)
c.5002A>G (p.Lys1668Glu)
c.4993A>G (p.Lys1665Glu)
c.3331A>G (p.Lys1111Glu)
 gnomAD v4
Xg.108696298A>TCA414133032COL4A5c.4996A>T (p.Lys1666Ter)
c.4978A>T (p.Lys1660Ter)
n.1490A>T
n.2684A>T
c.221A>T (p.Ter74Leu)
c.326A>T
c.4987A>T (p.Lys1663Ter)
c.4672A>T (p.Lys1558Ter)
c.2569A>T (p.Lys857Ter)
c.5011A>T (p.Lys1671Ter)
c.5002A>T (p.Lys1668Ter)
c.4993A>T (p.Lys1665Ter)
c.3331A>T (p.Lys1111Ter)
Xg.108696300delCA2579677350COL4A5c.4998del (p.Lys1666AsnfsTer7)
c.4980del (p.Lys1660AsnfsTer7)
n.1492del
n.2686del
c.223del (n.223del)
c.328del
c.4989del (p.Lys1663AsnfsTer7)
c.4674del (p.Lys1558AsnfsTer7)
c.2571del (p.Lys857AsnfsTer7)
c.5013del (p.Lys1671AsnfsTer7)
c.5004del (p.Lys1668AsnfsTer7)
c.4995del (p.Lys1665AsnfsTer7)
c.3333del (p.Lys1111AsnfsTer7)
Xg.108696299A=CA2450722061COL4A5c.4997A= (p.Lys1666=)
c.4979A= (p.Lys1660=)
n.1491A=
n.2685A=
c.222A= (p.Ter74=)
c.327A=
c.4988A= (p.Lys1663=)
c.4673A= (p.Lys1558=)
c.2570A= (p.Lys857=)
c.5012A= (p.Lys1671=)
c.5003A= (p.Lys1668=)
c.4994A= (p.Lys1665=)
c.3332A= (p.Lys1111=)
Xg.108696299A>CCA414133034COL4A5c.4997A>C (p.Lys1666Thr)
c.4979A>C (p.Lys1660Thr)
n.1491A>C
n.2685A>C
c.222A>C (p.Ter74Tyr)
c.327A>C
c.4988A>C (p.Lys1663Thr)
c.4673A>C (p.Lys1558Thr)
c.2570A>C (p.Lys857Thr)
c.5012A>C (p.Lys1671Thr)
c.5003A>C (p.Lys1668Thr)
c.4994A>C (p.Lys1665Thr)
c.3332A>C (p.Lys1111Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.108696299A>GCA414133035COL4A5c.4997A>G (p.Lys1666Arg)
c.4979A>G (p.Lys1660Arg)
n.1491A>G
n.2685A>G
c.222A>G (p.Ter74=)
c.327A>G
c.4988A>G (p.Lys1663Arg)
c.4673A>G (p.Lys1558Arg)
c.2570A>G (p.Lys857Arg)
c.5012A>G (p.Lys1671Arg)
c.5003A>G (p.Lys1668Arg)
c.4994A>G (p.Lys1665Arg)
c.3332A>G (p.Lys1111Arg)
Xg.108696299A>TCA414133036COL4A5c.4997A>T (p.Lys1666Ile)
c.4979A>T (p.Lys1660Ile)
n.1491A>T
n.2685A>T
c.222A>T (p.Ter74Tyr)
c.327A>T
c.4988A>T (p.Lys1663Ile)
c.4673A>T (p.Lys1558Ile)
c.2570A>T (p.Lys857Ile)
c.5012A>T (p.Lys1671Ile)
c.5003A>T (p.Lys1668Ile)
c.4994A>T (p.Lys1665Ile)
c.3332A>T (p.Lys1111Ile)
Xg.108696300A>CCA414133037COL4A5c.4998A>C (p.Lys1666Asn)
c.4980A>C (p.Lys1660Asn)
n.1492A>C
n.2686A>C
c.223A>C (n.223A>C)
c.328A>C
c.4989A>C (p.Lys1663Asn)
c.4674A>C (p.Lys1558Asn)
c.2571A>C (p.Lys857Asn)
c.5013A>C (p.Lys1671Asn)
c.5004A>C (p.Lys1668Asn)
c.4995A>C (p.Lys1665Asn)
c.3333A>C (p.Lys1111Asn)
Xg.108696300A>GCA517926287COL4A5c.4998A>G (p.Lys1666=)
c.4980A>G (p.Lys1660=)
n.1492A>G
n.2686A>G
c.223A>G (n.223A>G)
c.328A>G
c.4989A>G (p.Lys1663=)
c.4674A>G (p.Lys1558=)
c.2571A>G (p.Lys857=)
c.5013A>G (p.Lys1671=)
c.5004A>G (p.Lys1668=)
c.4995A>G (p.Lys1665=)
c.3333A>G (p.Lys1111=)
Xg.108696300A>TCA414133038COL4A5c.4998A>T (p.Lys1666Asn)
c.4980A>T (p.Lys1660Asn)
n.1492A>T
n.2686A>T
c.223A>T (n.223A>T)
c.328A>T
c.4989A>T (p.Lys1663Asn)
c.4674A>T (p.Lys1558Asn)
c.2571A>T (p.Lys857Asn)
c.5013A>T (p.Lys1671Asn)
c.5004A>T (p.Lys1668Asn)
c.4995A>T (p.Lys1665Asn)
c.3333A>T (p.Lys1111Asn)
Xg.108696301C>ACA414133039COL4A5c.4999C>A (p.Pro1667Thr)
c.4981C>A (p.Pro1661Thr)
n.1493C>A
n.2687C>A
c.224C>A (n.224C>A)
c.329C>A
c.4990C>A (p.Pro1664Thr)
c.4675C>A (p.Pro1559Thr)
c.2572C>A (p.Pro858Thr)
c.5014C>A (p.Pro1672Thr)
c.5005C>A (p.Pro1669Thr)
c.4996C>A (p.Pro1666Thr)
c.3334C>A (p.Pro1112Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.108696301C=CA2450722062COL4A5c.4999C= (p.Pro1667=)
c.4981C= (p.Pro1661=)
n.1493C=
n.2687C=
c.224C= (n.224C=)
c.329C=
c.4990C= (p.Pro1664=)
c.4675C= (p.Pro1559=)
c.2572C= (p.Pro858=)
c.5014C= (p.Pro1672=)
c.5005C= (p.Pro1669=)
c.4996C= (p.Pro1666=)
c.3334C= (p.Pro1112=)
Xg.108696301C>GCA414133040COL4A5c.4999C>G (p.Pro1667Ala)
c.4981C>G (p.Pro1661Ala)
n.1493C>G
n.2687C>G
c.224C>G (n.224C>G)
c.329C>G
c.4990C>G (p.Pro1664Ala)
c.4675C>G (p.Pro1559Ala)
c.2572C>G (p.Pro858Ala)
c.5014C>G (p.Pro1672Ala)
c.5005C>G (p.Pro1669Ala)
c.4996C>G (p.Pro1666Ala)
c.3334C>G (p.Pro1112Ala)
Xg.108696301C>TCA414133041COL4A5c.4999C>T (p.Pro1667Ser)
c.4981C>T (p.Pro1661Ser)
n.1493C>T
n.2687C>T
c.224C>T (n.224C>T)
c.329C>T
c.4990C>T (p.Pro1664Ser)
c.4675C>T (p.Pro1559Ser)
c.2572C>T (p.Pro858Ser)
c.5014C>T (p.Pro1672Ser)
c.5005C>T (p.Pro1669Ser)
c.4996C>T (p.Pro1666Ser)
c.3334C>T (p.Pro1112Ser)
Xg.108696302C>ACA414133042COL4A5c.5000C>A (p.Pro1667His)
c.4982C>A (p.Pro1661His)
n.1494C>A
n.2688C>A
c.225C>A (n.225C>A)
c.330C>A
c.4991C>A (p.Pro1664His)
c.4676C>A (p.Pro1559His)
c.2573C>A (p.Pro858His)
c.5015C>A (p.Pro1672His)
c.5006C>A (p.Pro1669His)
c.4997C>A (p.Pro1666His)
c.3335C>A (p.Pro1112His)
Xg.108696302C>GCA414133043COL4A5c.5000C>G (p.Pro1667Arg)
c.4982C>G (p.Pro1661Arg)
n.1494C>G
n.2688C>G
c.225C>G (n.225C>G)
c.330C>G
c.4991C>G (p.Pro1664Arg)
c.4676C>G (p.Pro1559Arg)
c.2573C>G (p.Pro858Arg)
c.5015C>G (p.Pro1672Arg)
c.5006C>G (p.Pro1669Arg)
c.4997C>G (p.Pro1666Arg)
c.3335C>G (p.Pro1112Arg)
Xg.108696302C>TCA414133044COL4A5c.5000C>T (p.Pro1667Leu)
c.4982C>T (p.Pro1661Leu)
n.1494C>T
n.2688C>T
c.225C>T (n.225C>T)
c.330C>T
c.4991C>T (p.Pro1664Leu)
c.4676C>T (p.Pro1559Leu)
c.2573C>T (p.Pro858Leu)
c.5015C>T (p.Pro1672Leu)
c.5006C>T (p.Pro1669Leu)
c.4997C>T (p.Pro1666Leu)
c.3335C>T (p.Pro1112Leu)
Xg.108696303T>ACA517926293COL4A5c.5001T>A (p.Pro1667=)
c.4983T>A (p.Pro1661=)
n.1495T>A
n.2689T>A
c.226T>A (n.226T>A)
c.331T>A
c.4992T>A (p.Pro1664=)
c.4677T>A (p.Pro1559=)
c.2574T>A (p.Pro858=)
c.5016T>A (p.Pro1672=)
c.5007T>A (p.Pro1669=)
c.4998T>A (p.Pro1666=)
c.3336T>A (p.Pro1112=)
Xg.108696303T>CCA517926295COL4A5c.5001T>C (p.Pro1667=)
c.4983T>C (p.Pro1661=)
n.1495T>C
n.2689T>C
c.226T>C (n.226T>C)
c.331T>C
c.4992T>C (p.Pro1664=)
c.4677T>C (p.Pro1559=)
c.2574T>C (p.Pro858=)
c.5016T>C (p.Pro1672=)
c.5007T>C (p.Pro1669=)
c.4998T>C (p.Pro1666=)
c.3336T>C (p.Pro1112=)
Xg.108696303T>GCA517926292COL4A5c.5001T>G (p.Pro1667=)
c.4983T>G (p.Pro1661=)
n.1495T>G
n.2689T>G
c.226T>G (n.226T>G)
c.331T>G
c.4992T>G (p.Pro1664=)
c.4677T>G (p.Pro1559=)
c.2574T>G (p.Pro858=)
c.5016T>G (p.Pro1672=)
c.5007T>G (p.Pro1669=)
c.4998T>G (p.Pro1666=)
c.3336T>G (p.Pro1112=)
Xg.108696304C>ACA414133047COL4A5c.5002C>A (p.Gln1668Lys)
c.4984C>A (p.Gln1662Lys)
n.1496C>A
n.2690C>A
c.227C>A (n.227C>A)
c.332C>A
c.4993C>A (p.Gln1665Lys)
c.4678C>A (p.Gln1560Lys)
c.2575C>A (p.Gln859Lys)
c.5017C>A (p.Gln1673Lys)
c.5008C>A (p.Gln1670Lys)
c.4999C>A (p.Gln1667Lys)
c.3337C>A (p.Gln1113Lys)
 gnomAD v4
Xg.108696304C>GCA414133046COL4A5c.5002C>G (p.Gln1668Glu)
c.4984C>G (p.Gln1662Glu)
n.1496C>G
n.2690C>G
c.227C>G (n.227C>G)
c.332C>G
c.4993C>G (p.Gln1665Glu)
c.4678C>G (p.Gln1560Glu)
c.2575C>G (p.Gln859Glu)
c.5017C>G (p.Gln1673Glu)
c.5008C>G (p.Gln1670Glu)
c.4999C>G (p.Gln1667Glu)
c.3337C>G (p.Gln1113Glu)
Xg.108696304C>TCA414133045COL4A5c.5002C>T (p.Gln1668Ter)
c.4984C>T (p.Gln1662Ter)
n.1496C>T
n.2690C>T
c.227C>T (n.227C>T)
c.332C>T
c.4993C>T (p.Gln1665Ter)
c.4678C>T (p.Gln1560Ter)
c.2575C>T (p.Gln859Ter)
c.5017C>T (p.Gln1673Ter)
c.5008C>T (p.Gln1670Ter)
c.4999C>T (p.Gln1667Ter)
c.3337C>T (p.Gln1113Ter)
Xg.108696305A>CCA414133048COL4A5c.5003A>C (p.Gln1668Pro)
c.4985A>C (p.Gln1662Pro)
n.1497A>C
n.2691A>C
c.228A>C (n.228A>C)
c.333A>C
c.4994A>C (p.Gln1665Pro)
c.4679A>C (p.Gln1560Pro)
c.2576A>C (p.Gln859Pro)
c.5018A>C (p.Gln1673Pro)
c.5009A>C (p.Gln1670Pro)
c.5000A>C (p.Gln1667Pro)
c.3338A>C (p.Gln1113Pro)
Xg.108696305A>GCA414133049COL4A5c.5003A>G (p.Gln1668Arg)
c.4985A>G (p.Gln1662Arg)
n.1497A>G
n.2691A>G
c.228A>G (n.228A>G)
c.333A>G
c.4994A>G (p.Gln1665Arg)
c.4679A>G (p.Gln1560Arg)
c.2576A>G (p.Gln859Arg)
c.5018A>G (p.Gln1673Arg)
c.5009A>G (p.Gln1670Arg)
c.5000A>G (p.Gln1667Arg)
c.3338A>G (p.Gln1113Arg)
Xg.108696305A>TCA414133050COL4A5c.5003A>T (p.Gln1668Leu)
c.4985A>T (p.Gln1662Leu)
n.1497A>T
n.2691A>T
c.228A>T (n.228A>T)
c.333A>T
c.4994A>T (p.Gln1665Leu)
c.4679A>T (p.Gln1560Leu)
c.2576A>T (p.Gln859Leu)
c.5018A>T (p.Gln1673Leu)
c.5009A>T (p.Gln1670Leu)
c.5000A>T (p.Gln1667Leu)
c.3338A>T (p.Gln1113Leu)
Xg.108696306G>ACA10489457COL4A5c.5004G>A (p.Gln1668=)
c.4986G>A (p.Gln1662=)
n.1498G>A
n.2692G>A
c.229G>A (n.229G>A)
c.334G>A
c.4995G>A (p.Gln1665=)
c.4680G>A (p.Gln1560=)
c.2577G>A (p.Gln859=)
c.5019G>A (p.Gln1673=)
c.5010G>A (p.Gln1670=)
c.5001G>A (p.Gln1667=)
c.3339G>A (p.Gln1113=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108696306G>CCA414133051COL4A5c.5004G>C (p.Gln1668His)
c.4986G>C (p.Gln1662His)
n.1498G>C
n.2692G>C
c.229G>C (n.229G>C)
c.334G>C
c.4995G>C (p.Gln1665His)
c.4680G>C (p.Gln1560His)
c.2577G>C (p.Gln859His)
c.5019G>C (p.Gln1673His)
c.5010G>C (p.Gln1670His)
c.5001G>C (p.Gln1667His)
c.3339G>C (p.Gln1113His)
Xg.108696306G=CA2450722063COL4A5c.5004G= (p.Gln1668=)
c.4986G= (p.Gln1662=)
n.1498G=
n.2692G=
c.229G= (n.229G=)
c.334G=
c.4995G= (p.Gln1665=)
c.4680G= (p.Gln1560=)
c.2577G= (p.Gln859=)
c.5019G= (p.Gln1673=)
c.5010G= (p.Gln1670=)
c.5001G= (p.Gln1667=)
c.3339G= (p.Gln1113=)
Xg.108696306G>TCA414133052COL4A5c.5004G>T (p.Gln1668His)
c.4986G>T (p.Gln1662His)
n.1498G>T
n.2692G>T
c.229G>T (n.229G>T)
c.334G>T
c.4995G>T (p.Gln1665His)
c.4680G>T (p.Gln1560His)
c.2577G>T (p.Gln859His)
c.5019G>T (p.Gln1673His)
c.5010G>T (p.Gln1670His)
c.5001G>T (p.Gln1667His)
c.3339G>T (p.Gln1113His)
Xg.108696307T>ACA414133053COL4A5c.5005T>A (p.Ser1669Thr)
c.4987T>A (p.Ser1663Thr)
n.1499T>A
n.2693T>A
c.230T>A (n.230T>A)
c.335T>A
c.4996T>A (p.Ser1666Thr)
c.4681T>A (p.Ser1561Thr)
c.2578T>A (p.Ser860Thr)
c.5020T>A (p.Ser1674Thr)
c.5011T>A (p.Ser1671Thr)
c.5002T>A (p.Ser1668Thr)
c.3340T>A (p.Ser1114Thr)
Xg.108696307T>CCA414133054COL4A5c.5005T>C (p.Ser1669Pro)
c.4987T>C (p.Ser1663Pro)
n.1499T>C
n.2693T>C
c.230T>C (n.230T>C)
c.335T>C
c.4996T>C (p.Ser1666Pro)
c.4681T>C (p.Ser1561Pro)
c.2578T>C (p.Ser860Pro)
c.5020T>C (p.Ser1674Pro)
c.5011T>C (p.Ser1671Pro)
c.5002T>C (p.Ser1668Pro)
c.3340T>C (p.Ser1114Pro)
Xg.108696307T>GCA414133055COL4A5c.5005T>G (p.Ser1669Ala)
c.4987T>G (p.Ser1663Ala)
n.1499T>G
n.2693T>G
c.230T>G (n.230T>G)
c.335T>G
c.4996T>G (p.Ser1666Ala)
c.4681T>G (p.Ser1561Ala)
c.2578T>G (p.Ser860Ala)
c.5020T>G (p.Ser1674Ala)
c.5011T>G (p.Ser1671Ala)
c.5002T>G (p.Ser1668Ala)
c.3340T>G (p.Ser1114Ala)
Xg.108696308C>ACA414133056COL4A5c.5006C>A (p.Ser1669Ter)
c.4988C>A (p.Ser1663Ter)
n.1500C>A
n.2694C>A
c.231C>A (n.231C>A)
c.336C>A
c.4997C>A (p.Ser1666Ter)
c.4682C>A (p.Ser1561Ter)
c.2579C>A (p.Ser860Ter)
c.5021C>A (p.Ser1674Ter)
c.5012C>A (p.Ser1671Ter)
c.5003C>A (p.Ser1668Ter)
c.3341C>A (p.Ser1114Ter)
Xg.108696308C>GCA414133057COL4A5c.5006C>G (p.Ser1669Ter)
c.4988C>G (p.Ser1663Ter)
n.1500C>G
n.2694C>G
c.231C>G (n.231C>G)
c.336C>G
c.4997C>G (p.Ser1666Ter)
c.4682C>G (p.Ser1561Ter)
c.2579C>G (p.Ser860Ter)
c.5021C>G (p.Ser1674Ter)
c.5012C>G (p.Ser1671Ter)
c.5003C>G (p.Ser1668Ter)
c.3341C>G (p.Ser1114Ter)
 ClinVar dbSNP
Xg.108696308C>TCA414133058COL4A5c.5006C>T (p.Ser1669Leu)
c.4988C>T (p.Ser1663Leu)
n.1500C>T
n.2694C>T
c.231C>T (n.231C>T)
c.336C>T
c.4997C>T (p.Ser1666Leu)
c.4682C>T (p.Ser1561Leu)
c.2579C>T (p.Ser860Leu)
c.5021C>T (p.Ser1674Leu)
c.5012C>T (p.Ser1671Leu)
c.5003C>T (p.Ser1668Leu)
c.3341C>T (p.Ser1114Leu)
Xg.108696309A>CCA517926303COL4A5c.5007A>C (p.Ser1669=)
c.4989A>C (p.Ser1663=)
n.1501A>C
n.2695A>C
c.232A>C (n.232A>C)
c.337A>C
c.4998A>C (p.Ser1666=)
c.4683A>C (p.Ser1561=)
c.2580A>C (p.Ser860=)
c.5022A>C (p.Ser1674=)
c.5013A>C (p.Ser1671=)
c.5004A>C (p.Ser1668=)
c.3342A>C (p.Ser1114=)
Xg.108696309A>GCA517926305COL4A5c.5007A>G (p.Ser1669=)
c.4989A>G (p.Ser1663=)
n.1501A>G
n.2695A>G
c.232A>G (n.232A>G)
c.337A>G
c.4998A>G (p.Ser1666=)
c.4683A>G (p.Ser1561=)
c.2580A>G (p.Ser860=)
c.5022A>G (p.Ser1674=)
c.5013A>G (p.Ser1671=)
c.5004A>G (p.Ser1668=)
c.3342A>G (p.Ser1114=)
Xg.108696309A>TCA517926304COL4A5c.5007A>T (p.Ser1669=)
c.4989A>T (p.Ser1663=)
n.1501A>T
n.2695A>T
c.232A>T (n.232A>T)
c.337A>T
c.4998A>T (p.Ser1666=)
c.4683A>T (p.Ser1561=)
c.2580A>T (p.Ser860=)
c.5022A>T (p.Ser1674=)
c.5013A>T (p.Ser1671=)
c.5004A>T (p.Ser1668=)
c.3342A>T (p.Ser1114=)
Xg.108696309_108696317delinsAGAAACGCTCA2450722064COL4A5c.5007_5015delinsAGAAACGCT (p.Ser1669=)
c.4989_4997delinsAGAAACGCT (p.Ser1663=)
n.1501_1509delinsAGAAACGCT
n.2695_2703delinsAGAAACGCT
c.232_240delinsAGAAACGCT (n.232_240delinsAGAAACGCT)
c.337_345delinsAGAAACGCT
c.4998_5006delinsAGAAACGCT (p.Ser1666=)
c.4683_4691delinsAGAAACGCT (p.Ser1561=)
c.2580_2588delinsAGAAACGCT (p.Ser860=)
c.5022_5030delinsAGAAACGCT (p.Ser1674=)
c.5013_5021delinsAGAAACGCT (p.Ser1671=)
c.5004_5012delinsAGAAACGCT (p.Ser1668=)
c.3342_3350delinsAGAAACGCT (p.Ser1114=)
Xg.108696310G>ACA414133061COL4A5c.5008G>A (p.Glu1670Lys)
c.4990G>A (p.Glu1664Lys)
n.1502G>A
n.2696G>A
c.233G>A (n.233G>A)
c.338G>A
c.4999G>A (p.Glu1667Lys)
c.4684G>A (p.Glu1562Lys)
c.2581G>A (p.Glu861Lys)
c.5023G>A (p.Glu1675Lys)
c.5014G>A (p.Glu1672Lys)
c.5005G>A (p.Glu1669Lys)
c.3343G>A (p.Glu1115Lys)
Xg.108696310G>CCA414133059COL4A5c.5008G>C (p.Glu1670Gln)
c.4990G>C (p.Glu1664Gln)
n.1502G>C
n.2696G>C
c.233G>C (n.233G>C)
c.338G>C
c.4999G>C (p.Glu1667Gln)
c.4684G>C (p.Glu1562Gln)
c.2581G>C (p.Glu861Gln)
c.5023G>C (p.Glu1675Gln)
c.5014G>C (p.Glu1672Gln)
c.5005G>C (p.Glu1669Gln)
c.3343G>C (p.Glu1115Gln)
Xg.108696310G>TCA414133060COL4A5c.5008G>T (p.Glu1670Ter)
c.4990G>T (p.Glu1664Ter)
n.1502G>T
n.2696G>T
c.233G>T (n.233G>T)
c.338G>T
c.4999G>T (p.Glu1667Ter)
c.4684G>T (p.Glu1562Ter)
c.2581G>T (p.Glu861Ter)
c.5023G>T (p.Glu1675Ter)
c.5014G>T (p.Glu1672Ter)
c.5005G>T (p.Glu1669Ter)
c.3343G>T (p.Glu1115Ter)
Xg.108696314_108696321delCA259142COL4A5c.5012_5019del (p.Thr1671SerfsTer9)
c.4994_5001del (p.Thr1665SerfsTer9)
n.1506_1513del
n.2700_2707del
c.237_244del (n.237_244del)
c.342_349del
c.5003_5010del (p.Thr1668SerfsTer9)
c.4688_4695del (p.Thr1563SerfsTer9)
c.2585_2592del (p.Thr862SerfsTer9)
c.5027_5034del (p.Thr1676SerfsTer9)
c.5018_5025del (p.Thr1673SerfsTer9)
c.5009_5016del (p.Thr1670SerfsTer9)
c.3347_3354del (p.Thr1116SerfsTer9)
 dbSNP
Xg.108696311A>CCA414133062COL4A5c.5009A>C (p.Glu1670Ala)
c.4991A>C (p.Glu1664Ala)
n.1503A>C
n.2697A>C
c.234A>C (n.234A>C)
c.339A>C
c.5000A>C (p.Glu1667Ala)
c.4685A>C (p.Glu1562Ala)
c.2582A>C (p.Glu861Ala)
c.5024A>C (p.Glu1675Ala)
c.5015A>C (p.Glu1672Ala)
c.5006A>C (p.Glu1669Ala)
c.3344A>C (p.Glu1115Ala)
Xg.108696311A>GCA414133064COL4A5c.5009A>G (p.Glu1670Gly)
c.4991A>G (p.Glu1664Gly)
n.1503A>G
n.2697A>G
c.234A>G (n.234A>G)
c.339A>G
c.5000A>G (p.Glu1667Gly)
c.4685A>G (p.Glu1562Gly)
c.2582A>G (p.Glu861Gly)
c.5024A>G (p.Glu1675Gly)
c.5015A>G (p.Glu1672Gly)
c.5006A>G (p.Glu1669Gly)
c.3344A>G (p.Glu1115Gly)
Xg.108696311A>TCA414133063COL4A5c.5009A>T (p.Glu1670Val)
c.4991A>T (p.Glu1664Val)
n.1503A>T
n.2697A>T
c.234A>T (n.234A>T)
c.339A>T
c.5000A>T (p.Glu1667Val)
c.4685A>T (p.Glu1562Val)
c.2582A>T (p.Glu861Val)
c.5024A>T (p.Glu1675Val)
c.5015A>T (p.Glu1672Val)
c.5006A>T (p.Glu1669Val)
c.3344A>T (p.Glu1115Val)
Xg.108696312A>CCA414133065COL4A5c.5010A>C (p.Glu1670Asp)
c.4992A>C (p.Glu1664Asp)
n.1504A>C
n.2698A>C
c.235A>C (n.235A>C)
c.340A>C
c.5001A>C (p.Glu1667Asp)
c.4686A>C (p.Glu1562Asp)
c.2583A>C (p.Glu861Asp)
c.5025A>C (p.Glu1675Asp)
c.5016A>C (p.Glu1672Asp)
c.5007A>C (p.Glu1669Asp)
c.3345A>C (p.Glu1115Asp)
Xg.108696312A>GCA517926308COL4A5c.5010A>G (p.Glu1670=)
c.4992A>G (p.Glu1664=)
n.1504A>G
n.2698A>G
c.235A>G (n.235A>G)
c.340A>G
c.5001A>G (p.Glu1667=)
c.4686A>G (p.Glu1562=)
c.2583A>G (p.Glu861=)
c.5025A>G (p.Glu1675=)
c.5016A>G (p.Glu1672=)
c.5007A>G (p.Glu1669=)
c.3345A>G (p.Glu1115=)
Xg.108696312A>TCA414133066COL4A5c.5010A>T (p.Glu1670Asp)
c.4992A>T (p.Glu1664Asp)
n.1504A>T
n.2698A>T
c.235A>T (n.235A>T)
c.340A>T
c.5001A>T (p.Glu1667Asp)
c.4686A>T (p.Glu1562Asp)
c.2583A>T (p.Glu861Asp)
c.5025A>T (p.Glu1675Asp)
c.5016A>T (p.Glu1672Asp)
c.5007A>T (p.Glu1669Asp)
c.3345A>T (p.Glu1115Asp)
Xg.108696313A=CA2450722065COL4A5c.5011A= (p.Thr1671=)
c.4993A= (p.Thr1665=)
n.1505A=
n.2699A=
c.236A= (n.236A=)
c.341A=
c.5002A= (p.Thr1668=)
c.4687A= (p.Thr1563=)
c.2584A= (p.Thr862=)
c.5026A= (p.Thr1676=)
c.5017A= (p.Thr1673=)
c.5008A= (p.Thr1670=)
c.3346A= (p.Thr1116=)
Xg.108696313A>CCA414133068COL4A5c.5011A>C (p.Thr1671Pro)
c.4993A>C (p.Thr1665Pro)
n.1505A>C
n.2699A>C
c.236A>C (n.236A>C)
c.341A>C
c.5002A>C (p.Thr1668Pro)
c.4687A>C (p.Thr1563Pro)
c.2584A>C (p.Thr862Pro)
c.5026A>C (p.Thr1676Pro)
c.5017A>C (p.Thr1673Pro)
c.5008A>C (p.Thr1670Pro)
c.3346A>C (p.Thr1116Pro)
Xg.108696313A>GCA10489458COL4A5c.5011A>G (p.Thr1671Ala)
c.4993A>G (p.Thr1665Ala)
n.1505A>G
n.2699A>G
c.236A>G (n.236A>G)
c.341A>G
c.5002A>G (p.Thr1668Ala)
c.4687A>G (p.Thr1563Ala)
c.2584A>G (p.Thr862Ala)
c.5026A>G (p.Thr1676Ala)
c.5017A>G (p.Thr1673Ala)
c.5008A>G (p.Thr1670Ala)
c.3346A>G (p.Thr1116Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108696313A>TCA414133067COL4A5c.5011A>T (p.Thr1671Ser)
c.4993A>T (p.Thr1665Ser)
n.1505A>T
n.2699A>T
c.236A>T (n.236A>T)
c.341A>T
c.5002A>T (p.Thr1668Ser)
c.4687A>T (p.Thr1563Ser)
c.2584A>T (p.Thr862Ser)
c.5026A>T (p.Thr1676Ser)
c.5017A>T (p.Thr1673Ser)
c.5008A>T (p.Thr1670Ser)
c.3346A>T (p.Thr1116Ser)
Xg.108696314C>ACA414133069COL4A5c.5012C>A (p.Thr1671Lys)
c.4994C>A (p.Thr1665Lys)
n.1506C>A
n.2700C>A
c.237C>A (n.237C>A)
c.342C>A
c.5003C>A (p.Thr1668Lys)
c.4688C>A (p.Thr1563Lys)
c.2585C>A (p.Thr862Lys)
c.5027C>A (p.Thr1676Lys)
c.5018C>A (p.Thr1673Lys)
c.5009C>A (p.Thr1670Lys)
c.3347C>A (p.Thr1116Lys)
Xg.108696314C=CA2450722066COL4A5c.5012C= (p.Thr1671=)
c.4994C= (p.Thr1665=)
n.1506C=
n.2700C=
c.237C= (n.237C=)
c.342C=
c.5003C= (p.Thr1668=)
c.4688C= (p.Thr1563=)
c.2585C= (p.Thr862=)
c.5027C= (p.Thr1676=)
c.5018C= (p.Thr1673=)
c.5009C= (p.Thr1670=)
c.3347C= (p.Thr1116=)
Xg.108696314C>GCA414133070COL4A5c.5012C>G (p.Thr1671Arg)
c.4994C>G (p.Thr1665Arg)
n.1506C>G
n.2700C>G
c.237C>G (n.237C>G)
c.342C>G
c.5003C>G (p.Thr1668Arg)
c.4688C>G (p.Thr1563Arg)
c.2585C>G (p.Thr862Arg)
c.5027C>G (p.Thr1676Arg)
c.5018C>G (p.Thr1673Arg)
c.5009C>G (p.Thr1670Arg)
c.3347C>G (p.Thr1116Arg)
Xg.108696314C>TCA10489459COL4A5c.5012C>T (p.Thr1671Met)
c.4994C>T (p.Thr1665Met)
n.1506C>T
n.2700C>T
c.237C>T (n.237C>T)
c.342C>T
c.5003C>T (p.Thr1668Met)
c.4688C>T (p.Thr1563Met)
c.2585C>T (p.Thr862Met)
c.5027C>T (p.Thr1676Met)
c.5018C>T (p.Thr1673Met)
c.5009C>T (p.Thr1670Met)
c.3347C>T (p.Thr1116Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108696315G>ACA334063886COL4A5c.5013G>A (p.Thr1671=)
c.4995G>A (p.Thr1665=)
n.1507G>A
n.2701G>A
c.238G>A (n.238G>A)
c.343G>A
c.5004G>A (p.Thr1668=)
c.4689G>A (p.Thr1563=)
c.2586G>A (p.Thr862=)
c.5028G>A (p.Thr1676=)
c.5019G>A (p.Thr1673=)
c.5010G>A (p.Thr1670=)
c.3348G>A (p.Thr1116=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108696315G>CCA517926313COL4A5c.5013G>C (p.Thr1671=)
c.4995G>C (p.Thr1665=)
n.1507G>C
n.2701G>C
c.238G>C (n.238G>C)
c.343G>C
c.5004G>C (p.Thr1668=)
c.4689G>C (p.Thr1563=)
c.2586G>C (p.Thr862=)
c.5028G>C (p.Thr1676=)
c.5019G>C (p.Thr1673=)
c.5010G>C (p.Thr1670=)
c.3348G>C (p.Thr1116=)
 ClinVar gnomAD v4
Xg.108696315G=CA2450722067COL4A5c.5013G= (p.Thr1671=)
c.4995G= (p.Thr1665=)
n.1507G=
n.2701G=
c.238G= (n.238G=)
c.343G=
c.5004G= (p.Thr1668=)
c.4689G= (p.Thr1563=)
c.2586G= (p.Thr862=)
c.5028G= (p.Thr1676=)
c.5019G= (p.Thr1673=)
c.5010G= (p.Thr1670=)
c.3348G= (p.Thr1116=)
Xg.108696315G>TCA517926314COL4A5c.5013G>T (p.Thr1671=)
c.4995G>T (p.Thr1665=)
n.1507G>T
n.2701G>T
c.238G>T (n.238G>T)
c.343G>T
c.5004G>T (p.Thr1668=)
c.4689G>T (p.Thr1563=)
c.2586G>T (p.Thr862=)
c.5028G>T (p.Thr1676=)
c.5019G>T (p.Thr1673=)
c.5010G>T (p.Thr1670=)
c.3348G>T (p.Thr1116=)
 gnomAD v4
Xg.108696316C>ACA414133071COL4A5c.5014C>A (p.Leu1672Met)
c.4996C>A (p.Leu1666Met)
n.1508C>A
n.2702C>A
c.239C>A (n.239C>A)
c.344C>A
c.5005C>A (p.Leu1669Met)
c.4690C>A (p.Leu1564Met)
c.2587C>A (p.Leu863Met)
c.5029C>A (p.Leu1677Met)
c.5020C>A (p.Leu1674Met)
c.5011C>A (p.Leu1671Met)
c.3349C>A (p.Leu1117Met)
Xg.108696316C>GCA414133072COL4A5c.5014C>G (p.Leu1672Val)
c.4996C>G (p.Leu1666Val)
n.1508C>G
n.2702C>G
c.239C>G (n.239C>G)
c.344C>G
c.5005C>G (p.Leu1669Val)
c.4690C>G (p.Leu1564Val)
c.2587C>G (p.Leu863Val)
c.5029C>G (p.Leu1677Val)
c.5020C>G (p.Leu1674Val)
c.5011C>G (p.Leu1671Val)
c.3349C>G (p.Leu1117Val)
Xg.108696316C>TCA517926317COL4A5c.5014C>T (p.Leu1672=)
c.4996C>T (p.Leu1666=)
n.1508C>T
n.2702C>T
c.239C>T (n.239C>T)
c.344C>T
c.5005C>T (p.Leu1669=)
c.4690C>T (p.Leu1564=)
c.2587C>T (p.Leu863=)
c.5029C>T (p.Leu1677=)
c.5020C>T (p.Leu1674=)
c.5011C>T (p.Leu1671=)
c.3349C>T (p.Leu1117=)
 COSMIC
Xg.108696317delCA2695235257COL4A5c.5015del (p.Leu1672ArgfsTer6)
c.4997del (p.Leu1666ArgfsTer6)
n.1509del
n.2703del
c.240del (n.240del)
c.345del
c.5006del (p.Leu1669ArgfsTer6)
c.4691del (p.Leu1564ArgfsTer6)
c.2588del (p.Leu863ArgfsTer6)
c.5030del (p.Leu1677ArgfsTer6)
c.5021del (p.Leu1674ArgfsTer6)
c.5012del (p.Leu1671ArgfsTer6)
c.3350del (p.Leu1117ArgfsTer6)
Xg.108696317T>ACA414133073COL4A5c.5015T>A (p.Leu1672Gln)
c.4997T>A (p.Leu1666Gln)
n.1509T>A
n.2703T>A
c.240T>A (n.240T>A)
c.345T>A
c.5006T>A (p.Leu1669Gln)
c.4691T>A (p.Leu1564Gln)
c.2588T>A (p.Leu863Gln)
c.5030T>A (p.Leu1677Gln)
c.5021T>A (p.Leu1674Gln)
c.5012T>A (p.Leu1671Gln)
c.3350T>A (p.Leu1117Gln)
Xg.108696317T>CCA414133074COL4A5c.5015T>C (p.Leu1672Pro)
c.4997T>C (p.Leu1666Pro)
n.1509T>C
n.2703T>C
c.240T>C (n.240T>C)
c.345T>C
c.5006T>C (p.Leu1669Pro)
c.4691T>C (p.Leu1564Pro)
c.2588T>C (p.Leu863Pro)
c.5030T>C (p.Leu1677Pro)
c.5021T>C (p.Leu1674Pro)
c.5012T>C (p.Leu1671Pro)
c.3350T>C (p.Leu1117Pro)
 gnomAD v4
Xg.108696317T>GCA414133075COL4A5c.5015T>G (p.Leu1672Arg)
c.4997T>G (p.Leu1666Arg)
n.1509T>G
n.2703T>G
c.240T>G (n.240T>G)
c.345T>G
c.5006T>G (p.Leu1669Arg)
c.4691T>G (p.Leu1564Arg)
c.2588T>G (p.Leu863Arg)
c.5030T>G (p.Leu1677Arg)
c.5021T>G (p.Leu1674Arg)
c.5012T>G (p.Leu1671Arg)
c.3350T>G (p.Leu1117Arg)
Xg.108696318G>ACA10489460COL4A5c.5016G>A (p.Leu1672=)
c.4998G>A (p.Leu1666=)
n.1510G>A
n.2704G>A
c.241G>A (n.241G>A)
c.346G>A
c.5007G>A (p.Leu1669=)
c.4692G>A (p.Leu1564=)
c.2589G>A (p.Leu863=)
c.5031G>A (p.Leu1677=)
c.5022G>A (p.Leu1674=)
c.5013G>A (p.Leu1671=)
c.3351G>A (p.Leu1117=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108696318G>CCA517926321COL4A5c.5016G>C (p.Leu1672=)
c.4998G>C (p.Leu1666=)
n.1510G>C
n.2704G>C
c.241G>C (n.241G>C)
c.346G>C
c.5007G>C (p.Leu1669=)
c.4692G>C (p.Leu1564=)
c.2589G>C (p.Leu863=)
c.5031G>C (p.Leu1677=)
c.5022G>C (p.Leu1674=)
c.5013G>C (p.Leu1671=)
c.3351G>C (p.Leu1117=)
Xg.108696318G=CA2450722068COL4A5c.5016G= (p.Leu1672=)
c.4998G= (p.Leu1666=)
n.1510G=
n.2704G=
c.241G= (n.241G=)
c.346G=
c.5007G= (p.Leu1669=)
c.4692G= (p.Leu1564=)
c.2589G= (p.Leu863=)
c.5031G= (p.Leu1677=)
c.5022G= (p.Leu1674=)
c.5013G= (p.Leu1671=)
c.3351G= (p.Leu1117=)
Xg.108696318G>TCA517926323COL4A5c.5016G>T (p.Leu1672=)
c.4998G>T (p.Leu1666=)
n.1510G>T
n.2704G>T
c.241G>T (n.241G>T)
c.346G>T
c.5007G>T (p.Leu1669=)
c.4692G>T (p.Leu1564=)
c.2589G>T (p.Leu863=)
c.5031G>T (p.Leu1677=)
c.5022G>T (p.Leu1674=)
c.5013G>T (p.Leu1671=)
c.3351G>T (p.Leu1117=)
Xg.108696319A>CCA414133076COL4A5c.5017A>C (p.Lys1673Gln)
c.4999A>C (p.Lys1667Gln)
n.1511A>C
n.2705A>C
c.242A>C (n.242A>C)
c.347A>C
c.5008A>C (p.Lys1670Gln)
c.4693A>C (p.Lys1565Gln)
c.2590A>C (p.Lys864Gln)
c.5032A>C (p.Lys1678Gln)
c.5023A>C (p.Lys1675Gln)
c.5014A>C (p.Lys1672Gln)
c.3352A>C (p.Lys1118Gln)
Xg.108696319A>GCA414133077COL4A5c.5017A>G (p.Lys1673Glu)
c.4999A>G (p.Lys1667Glu)
n.1511A>G
n.2705A>G
c.242A>G (n.242A>G)
c.347A>G
c.5008A>G (p.Lys1670Glu)
c.4693A>G (p.Lys1565Glu)
c.2590A>G (p.Lys864Glu)
c.5032A>G (p.Lys1678Glu)
c.5023A>G (p.Lys1675Glu)
c.5014A>G (p.Lys1672Glu)
c.3352A>G (p.Lys1118Glu)
Xg.108696319A>TCA414133078COL4A5c.5017A>T (p.Lys1673Ter)
c.4999A>T (p.Lys1667Ter)
n.1511A>T
n.2705A>T
c.242A>T (n.242A>T)
c.347A>T
c.5008A>T (p.Lys1670Ter)
c.4693A>T (p.Lys1565Ter)
c.2590A>T (p.Lys864Ter)
c.5032A>T (p.Lys1678Ter)
c.5023A>T (p.Lys1675Ter)
c.5014A>T (p.Lys1672Ter)
c.3352A>T (p.Lys1118Ter)
Xg.108696320A>CCA414133079COL4A5c.5018A>C (p.Lys1673Thr)
c.5000A>C (p.Lys1667Thr)
n.1512A>C
n.2706A>C
c.243A>C (n.243A>C)
c.348A>C
c.5009A>C (p.Lys1670Thr)
c.4694A>C (p.Lys1565Thr)
c.2591A>C (p.Lys864Thr)
c.5033A>C (p.Lys1678Thr)
c.5024A>C (p.Lys1675Thr)
c.5015A>C (p.Lys1672Thr)
c.3353A>C (p.Lys1118Thr)
Xg.108696320A>GCA414133080COL4A5c.5018A>G (p.Lys1673Arg)
c.5000A>G (p.Lys1667Arg)
n.1512A>G
n.2706A>G
c.243A>G (n.243A>G)
c.348A>G
c.5009A>G (p.Lys1670Arg)
c.4694A>G (p.Lys1565Arg)
c.2591A>G (p.Lys864Arg)
c.5033A>G (p.Lys1678Arg)
c.5024A>G (p.Lys1675Arg)
c.5015A>G (p.Lys1672Arg)
c.3353A>G (p.Lys1118Arg)
Xg.108696320A>TCA414133081COL4A5c.5018A>T (p.Lys1673Ile)
c.5000A>T (p.Lys1667Ile)
n.1512A>T
n.2706A>T
c.243A>T (n.243A>T)
c.348A>T
c.5009A>T (p.Lys1670Ile)
c.4694A>T (p.Lys1565Ile)
c.2591A>T (p.Lys864Ile)
c.5033A>T (p.Lys1678Ile)
c.5024A>T (p.Lys1675Ile)
c.5015A>T (p.Lys1672Ile)
c.3353A>T (p.Lys1118Ile)
Xg.108696321A>CCA414133082COL4A5c.5019A>C (p.Lys1673Asn)
c.5001A>C (p.Lys1667Asn)
n.1513A>C
n.2707A>C
c.244A>C (n.244A>C)
c.349A>C
c.5010A>C (p.Lys1670Asn)
c.4695A>C (p.Lys1565Asn)
c.2592A>C (p.Lys864Asn)
c.5034A>C (p.Lys1678Asn)
c.5025A>C (p.Lys1675Asn)
c.5016A>C (p.Lys1672Asn)
c.3354A>C (p.Lys1118Asn)
Xg.108696321A>GCA517926326COL4A5c.5019A>G (p.Lys1673=)
c.5001A>G (p.Lys1667=)
n.1513A>G
n.2707A>G
c.244A>G (n.244A>G)
c.349A>G
c.5010A>G (p.Lys1670=)
c.4695A>G (p.Lys1565=)
c.2592A>G (p.Lys864=)
c.5034A>G (p.Lys1678=)
c.5025A>G (p.Lys1675=)
c.5016A>G (p.Lys1672=)
c.3354A>G (p.Lys1118=)
 gnomAD v4
Xg.108696321A>TCA414133083COL4A5c.5019A>T (p.Lys1673Asn)
c.5001A>T (p.Lys1667Asn)
n.1513A>T
n.2707A>T
c.244A>T (n.244A>T)
c.349A>T
c.5010A>T (p.Lys1670Asn)
c.4695A>T (p.Lys1565Asn)
c.2592A>T (p.Lys864Asn)
c.5034A>T (p.Lys1678Asn)
c.5025A>T (p.Lys1675Asn)
c.5016A>T (p.Lys1672Asn)
c.3354A>T (p.Lys1118Asn)
Xg.108696322delCA2695235258COL4A5c.5020del (p.Ala1674GlnfsTer4)
c.5002del (p.Ala1668GlnfsTer4)
n.1514del
n.2708del
c.245del (n.245del)
c.350del
c.5011del (p.Ala1671GlnfsTer4)
c.4696del (p.Ala1566GlnfsTer4)
c.2593del (p.Ala865GlnfsTer4)
c.5035del (p.Ala1679GlnfsTer4)
c.5026del (p.Ala1676GlnfsTer4)
c.5017del (p.Ala1673GlnfsTer4)
c.3355del (p.Ala1119GlnfsTer4)
Xg.108696322G>ACA414133084COL4A5c.5020G>A (p.Ala1674Thr)
c.5002G>A (p.Ala1668Thr)
n.1514G>A
n.2708G>A
c.245G>A (n.245G>A)
c.350G>A
c.5011G>A (p.Ala1671Thr)
c.4696G>A (p.Ala1566Thr)
c.2593G>A (p.Ala865Thr)
c.5035G>A (p.Ala1679Thr)
c.5026G>A (p.Ala1676Thr)
c.5017G>A (p.Ala1673Thr)
c.3355G>A (p.Ala1119Thr)
 gnomAD v4
Xg.108696322G>CCA414133085COL4A5c.5020G>C (p.Ala1674Pro)
c.5002G>C (p.Ala1668Pro)
n.1514G>C
n.2708G>C
c.245G>C (n.245G>C)
c.350G>C
c.5011G>C (p.Ala1671Pro)
c.4696G>C (p.Ala1566Pro)
c.2593G>C (p.Ala865Pro)
c.5035G>C (p.Ala1679Pro)
c.5026G>C (p.Ala1676Pro)
c.5017G>C (p.Ala1673Pro)
c.3355G>C (p.Ala1119Pro)
Xg.108696322G>TCA414133086COL4A5c.5020G>T (p.Ala1674Ser)
c.5002G>T (p.Ala1668Ser)
n.1514G>T
n.2708G>T
c.245G>T (n.245G>T)
c.350G>T
c.5011G>T (p.Ala1671Ser)
c.4696G>T (p.Ala1566Ser)
c.2593G>T (p.Ala865Ser)
c.5035G>T (p.Ala1679Ser)
c.5026G>T (p.Ala1676Ser)
c.5017G>T (p.Ala1673Ser)
c.3355G>T (p.Ala1119Ser)
Xg.108696323C>ACA414133088COL4A5c.5021C>A (p.Ala1674Glu)
c.5003C>A (p.Ala1668Glu)
n.1515C>A
n.2709C>A
c.246C>A (n.246C>A)
c.351C>A
c.5012C>A (p.Ala1671Glu)
c.4697C>A (p.Ala1566Glu)
c.2594C>A (p.Ala865Glu)
c.5036C>A (p.Ala1679Glu)
c.5027C>A (p.Ala1676Glu)
c.5018C>A (p.Ala1673Glu)
c.3356C>A (p.Ala1119Glu)
Xg.108696323C>GCA414133089COL4A5c.5021C>G (p.Ala1674Gly)
c.5003C>G (p.Ala1668Gly)
n.1515C>G
n.2709C>G
c.246C>G (n.246C>G)
c.351C>G
c.5012C>G (p.Ala1671Gly)
c.4697C>G (p.Ala1566Gly)
c.2594C>G (p.Ala865Gly)
c.5036C>G (p.Ala1679Gly)
c.5027C>G (p.Ala1676Gly)
c.5018C>G (p.Ala1673Gly)
c.3356C>G (p.Ala1119Gly)
Xg.108696323C>TCA414133087COL4A5c.5021C>T (p.Ala1674Val)
c.5003C>T (p.Ala1668Val)
n.1515C>T
n.2709C>T
c.246C>T (n.246C>T)
c.351C>T
c.5012C>T (p.Ala1671Val)
c.4697C>T (p.Ala1566Val)
c.2594C>T (p.Ala865Val)
c.5036C>T (p.Ala1679Val)
c.5027C>T (p.Ala1676Val)
c.5018C>T (p.Ala1673Val)
c.3356C>T (p.Ala1119Val)
 COSMIC COSMIC
Xg.108696324A>CCA517926334COL4A5c.5022A>C (p.Ala1674=)
c.5004A>C (p.Ala1668=)
n.1516A>C
n.2710A>C
c.247A>C (n.247A>C)
c.352A>C
c.5013A>C (p.Ala1671=)
c.4698A>C (p.Ala1566=)
c.2595A>C (p.Ala865=)
c.5037A>C (p.Ala1679=)
c.5028A>C (p.Ala1676=)
c.5019A>C (p.Ala1673=)
c.3357A>C (p.Ala1119=)
Xg.108696324A>GCA517926332COL4A5c.5022A>G (p.Ala1674=)
c.5004A>G (p.Ala1668=)
n.1516A>G
n.2710A>G
c.247A>G (n.247A>G)
c.352A>G
c.5013A>G (p.Ala1671=)
c.4698A>G (p.Ala1566=)
c.2595A>G (p.Ala865=)
c.5037A>G (p.Ala1679=)
c.5028A>G (p.Ala1676=)
c.5019A>G (p.Ala1673=)
c.3357A>G (p.Ala1119=)
Xg.108696324A>TCA517926330COL4A5c.5022A>T (p.Ala1674=)
c.5004A>T (p.Ala1668=)
n.1516A>T
n.2710A>T
c.247A>T (n.247A>T)
c.352A>T
c.5013A>T (p.Ala1671=)
c.4698A>T (p.Ala1566=)
c.2595A>T (p.Ala865=)
c.5037A>T (p.Ala1679=)
c.5028A>T (p.Ala1676=)
c.5019A>T (p.Ala1673=)
c.3357A>T (p.Ala1119=)
Xg.108696325G>ACA414133090COL4A5c.5023G>A (p.Gly1675Arg)
c.5005G>A (p.Gly1669Arg)
n.1517G>A
n.2711G>A
c.248G>A (n.248G>A)
c.353G>A
c.5014G>A (p.Gly1672Arg)
c.4699G>A (p.Gly1567Arg)
c.2596G>A (p.Gly866Arg)
c.5038G>A (p.Gly1680Arg)
c.5029G>A (p.Gly1677Arg)
c.5020G>A (p.Gly1674Arg)
c.3358G>A (p.Gly1120Arg)
 gnomAD v4
Xg.108696325G>CCA414133091COL4A5c.5023G>C (p.Gly1675Arg)
c.5005G>C (p.Gly1669Arg)
n.1517G>C
n.2711G>C
c.248G>C (n.248G>C)
c.353G>C
c.5014G>C (p.Gly1672Arg)
c.4699G>C (p.Gly1567Arg)
c.2596G>C (p.Gly866Arg)
c.5038G>C (p.Gly1680Arg)
c.5029G>C (p.Gly1677Arg)
c.5020G>C (p.Gly1674Arg)
c.3358G>C (p.Gly1120Arg)
Xg.108696325G>TCA414133092COL4A5c.5023G>T (p.Gly1675Ter)
c.5005G>T (p.Gly1669Ter)
n.1517G>T
n.2711G>T
c.248G>T (n.248G>T)
c.353G>T
c.5014G>T (p.Gly1672Ter)
c.4699G>T (p.Gly1567Ter)
c.2596G>T (p.Gly866Ter)
c.5038G>T (p.Gly1680Ter)
c.5029G>T (p.Gly1677Ter)
c.5020G>T (p.Gly1674Ter)
c.3358G>T (p.Gly1120Ter)
 ClinVar dbSNP
Xg.108696326G>ACA414133093COL4A5c.5024G>A (p.Gly1675Glu)
c.5006G>A (p.Gly1669Glu)
n.1518G>A
n.2712G>A
c.249G>A (n.249G>A)
c.354G>A
c.5015G>A (p.Gly1672Glu)
c.4700G>A (p.Gly1567Glu)
c.2597G>A (p.Gly866Glu)
c.5039G>A (p.Gly1680Glu)
c.5030G>A (p.Gly1677Glu)
c.5021G>A (p.Gly1674Glu)
c.3359G>A (p.Gly1120Glu)
Xg.108696326G>CCA414133094COL4A5c.5024G>C (p.Gly1675Ala)
c.5006G>C (p.Gly1669Ala)
n.1518G>C
n.2712G>C
c.249G>C (n.249G>C)
c.354G>C
c.5015G>C (p.Gly1672Ala)
c.4700G>C (p.Gly1567Ala)
c.2597G>C (p.Gly866Ala)
c.5039G>C (p.Gly1680Ala)
c.5030G>C (p.Gly1677Ala)
c.5021G>C (p.Gly1674Ala)
c.3359G>C (p.Gly1120Ala)
Xg.108696326G>TCA414133095COL4A5c.5024G>T (p.Gly1675Val)
c.5006G>T (p.Gly1669Val)
n.1518G>T
n.2712G>T
c.249G>T (n.249G>T)
c.354G>T
c.5015G>T (p.Gly1672Val)
c.4700G>T (p.Gly1567Val)
c.2597G>T (p.Gly866Val)
c.5039G>T (p.Gly1680Val)
c.5030G>T (p.Gly1677Val)
c.5021G>T (p.Gly1674Val)
c.3359G>T (p.Gly1120Val)
Xg.108696327A=CA2450722069COL4A5c.5025A= (p.Gly1675=)
c.5007A= (p.Gly1669=)
n.1519A=
n.2713A=
c.250A= (n.250A=)
c.355A=
c.5016A= (p.Gly1672=)
c.4701A= (p.Gly1567=)
c.2598A= (p.Gly866=)
c.5040A= (p.Gly1680=)
c.5031A= (p.Gly1677=)
c.5022A= (p.Gly1674=)
c.3360A= (p.Gly1120=)
Xg.108696327A>CCA517926337COL4A5c.5025A>C (p.Gly1675=)
c.5007A>C (p.Gly1669=)
n.1519A>C
n.2713A>C
c.250A>C (n.250A>C)
c.355A>C
c.5016A>C (p.Gly1672=)
c.4701A>C (p.Gly1567=)
c.2598A>C (p.Gly866=)
c.5040A>C (p.Gly1680=)
c.5031A>C (p.Gly1677=)
c.5022A>C (p.Gly1674=)
c.3360A>C (p.Gly1120=)
Xg.108696327A>GCA517926338COL4A5c.5025A>G (p.Gly1675=)
c.5007A>G (p.Gly1669=)
n.1519A>G
n.2713A>G
c.250A>G (n.250A>G)
c.355A>G
c.5016A>G (p.Gly1672=)
c.4701A>G (p.Gly1567=)
c.2598A>G (p.Gly866=)
c.5040A>G (p.Gly1680=)
c.5031A>G (p.Gly1677=)
c.5022A>G (p.Gly1674=)
c.3360A>G (p.Gly1120=)
 dbSNP
Xg.108696327A>TCA517926339COL4A5c.5025A>T (p.Gly1675=)
c.5007A>T (p.Gly1669=)
n.1519A>T
n.2713A>T
c.250A>T (n.250A>T)
c.355A>T
c.5016A>T (p.Gly1672=)
c.4701A>T (p.Gly1567=)
c.2598A>T (p.Gly866=)
c.5040A>T (p.Gly1680=)
c.5031A>T (p.Gly1677=)
c.5022A>T (p.Gly1674=)
c.3360A>T (p.Gly1120=)
Xg.108696328G>ACA10489461COL4A5c.5026G>A (p.Asp1676Asn)
c.5008G>A (p.Asp1670Asn)
n.1520G>A
n.2714G>A
c.251G>A (n.251G>A)
c.356G>A
c.5017G>A (p.Asp1673Asn)
c.4702G>A (p.Asp1568Asn)
c.2599G>A (p.Asp867Asn)
c.5041G>A (p.Asp1681Asn)
c.5032G>A (p.Asp1678Asn)
c.5023G>A (p.Asp1675Asn)
c.3361G>A (p.Asp1121Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108696328G>CCA414133096COL4A5c.5026G>C (p.Asp1676His)
c.5008G>C (p.Asp1670His)
n.1520G>C
n.2714G>C
c.251G>C (n.251G>C)
c.356G>C
c.5017G>C (p.Asp1673His)
c.4702G>C (p.Asp1568His)
c.2599G>C (p.Asp867His)
c.5041G>C (p.Asp1681His)
c.5032G>C (p.Asp1678His)
c.5023G>C (p.Asp1675His)
c.3361G>C (p.Asp1121His)
Xg.108696328G=CA2450722070COL4A5c.5026G= (p.Asp1676=)
c.5008G= (p.Asp1670=)
n.1520G=
n.2714G=
c.251G= (n.251G=)
c.356G=
c.5017G= (p.Asp1673=)
c.4702G= (p.Asp1568=)
c.2599G= (p.Asp867=)
c.5041G= (p.Asp1681=)
c.5032G= (p.Asp1678=)
c.5023G= (p.Asp1675=)
c.3361G= (p.Asp1121=)
Xg.108696328G>TCA414133097COL4A5c.5026G>T (p.Asp1676Tyr)
c.5008G>T (p.Asp1670Tyr)
n.1520G>T
n.2714G>T
c.251G>T (n.251G>T)
c.356G>T
c.5017G>T (p.Asp1673Tyr)
c.4702G>T (p.Asp1568Tyr)
c.2599G>T (p.Asp867Tyr)
c.5041G>T (p.Asp1681Tyr)
c.5032G>T (p.Asp1678Tyr)
c.5023G>T (p.Asp1675Tyr)
c.3361G>T (p.Asp1121Tyr)
Xg.108696329A>CCA414133098COL4A5c.5027A>C (p.Asp1676Ala)
c.5009A>C (p.Asp1670Ala)
n.1521A>C
n.2715A>C
c.252A>C (n.252A>C)
c.357A>C
c.5018A>C (p.Asp1673Ala)
c.4703A>C (p.Asp1568Ala)
c.2600A>C (p.Asp867Ala)
c.5042A>C (p.Asp1681Ala)
c.5033A>C (p.Asp1678Ala)
c.5024A>C (p.Asp1675Ala)
c.3362A>C (p.Asp1121Ala)
Xg.108696329A>GCA414133099COL4A5c.5027A>G (p.Asp1676Gly)
c.5009A>G (p.Asp1670Gly)
n.1521A>G
n.2715A>G
c.252A>G (n.252A>G)
c.357A>G
c.5018A>G (p.Asp1673Gly)
c.4703A>G (p.Asp1568Gly)
c.2600A>G (p.Asp867Gly)
c.5042A>G (p.Asp1681Gly)
c.5033A>G (p.Asp1678Gly)
c.5024A>G (p.Asp1675Gly)
c.3362A>G (p.Asp1121Gly)
Xg.108696329A>TCA414133100COL4A5c.5027A>T (p.Asp1676Val)
c.5009A>T (p.Asp1670Val)
n.1521A>T
n.2715A>T
c.252A>T (n.252A>T)
c.357A>T
c.5018A>T (p.Asp1673Val)
c.4703A>T (p.Asp1568Val)
c.2600A>T (p.Asp867Val)
c.5042A>T (p.Asp1681Val)
c.5033A>T (p.Asp1678Val)
c.5024A>T (p.Asp1675Val)
c.3362A>T (p.Asp1121Val)
 gnomAD v4
Xg.108696330C>ACA414133102COL4A5c.5028C>A (p.Asp1676Glu)
c.5010C>A (p.Asp1670Glu)
n.1522C>A
n.2716C>A
c.253C>A (n.253C>A)
c.358C>A
c.5019C>A (p.Asp1673Glu)
c.4704C>A (p.Asp1568Glu)
c.2601C>A (p.Asp867Glu)
c.5043C>A (p.Asp1681Glu)
c.5034C>A (p.Asp1678Glu)
c.5025C>A (p.Asp1675Glu)
c.3363C>A (p.Asp1121Glu)
Xg.108696330C>GCA414133101COL4A5c.5028C>G (p.Asp1676Glu)
c.5010C>G (p.Asp1670Glu)
n.1522C>G
n.2716C>G
c.253C>G (n.253C>G)
c.358C>G
c.5019C>G (p.Asp1673Glu)
c.4704C>G (p.Asp1568Glu)
c.2601C>G (p.Asp867Glu)
c.5043C>G (p.Asp1681Glu)
c.5034C>G (p.Asp1678Glu)
c.5025C>G (p.Asp1675Glu)
c.3363C>G (p.Asp1121Glu)
Xg.108696330C>TCA517926344COL4A5c.5028C>T (p.Asp1676=)
c.5010C>T (p.Asp1670=)
n.1522C>T
n.2716C>T
c.253C>T (n.253C>T)
c.358C>T
c.5019C>T (p.Asp1673=)
c.4704C>T (p.Asp1568=)
c.2601C>T (p.Asp867=)
c.5043C>T (p.Asp1681=)
c.5034C>T (p.Asp1678=)
c.5025C>T (p.Asp1675=)
c.3363C>T (p.Asp1121=)
Xg.108696331T>ACA414133103COL4A5c.5029T>A (p.Leu1677Met)
c.5011T>A (p.Leu1671Met)
n.1523T>A
n.2717T>A
c.254T>A (n.254T>A)
c.359T>A
c.5020T>A (p.Leu1674Met)
c.4705T>A (p.Leu1569Met)
c.2602T>A (p.Leu868Met)
c.5044T>A (p.Leu1682Met)
c.5035T>A (p.Leu1679Met)
c.5026T>A (p.Leu1676Met)
c.3364T>A (p.Leu1122Met)
Xg.108696331T>CCA517926346COL4A5c.5029T>C (p.Leu1677=)
c.5011T>C (p.Leu1671=)
n.1523T>C
n.2717T>C
c.254T>C (n.254T>C)
c.359T>C
c.5020T>C (p.Leu1674=)
c.4705T>C (p.Leu1569=)
c.2602T>C (p.Leu868=)
c.5044T>C (p.Leu1682=)
c.5035T>C (p.Leu1679=)
c.5026T>C (p.Leu1676=)
c.3364T>C (p.Leu1122=)
Xg.108696331T>GCA414133104COL4A5c.5029T>G (p.Leu1677Val)
c.5011T>G (p.Leu1671Val)
n.1523T>G
n.2717T>G
c.254T>G (n.254T>G)
c.359T>G
c.5020T>G (p.Leu1674Val)
c.4705T>G (p.Leu1569Val)
c.2602T>G (p.Leu868Val)
c.5044T>G (p.Leu1682Val)
c.5035T>G (p.Leu1679Val)
c.5026T>G (p.Leu1676Val)
c.3364T>G (p.Leu1122Val)
 ClinVar dbSNP gnomAD v4
Xg.108696332T>ACA414133105COL4A5c.5030T>A (p.Leu1677Ter)
c.5012T>A (p.Leu1671Ter)
n.1524T>A
n.2718T>A
c.255T>A (n.255T>A)
c.360T>A
c.5021T>A (p.Leu1674Ter)
c.4706T>A (p.Leu1569Ter)
c.2603T>A (p.Leu868Ter)
c.5045T>A (p.Leu1682Ter)
c.5036T>A (p.Leu1679Ter)
c.5027T>A (p.Leu1676Ter)
c.3365T>A (p.Leu1122Ter)
 ClinVar dbSNP
Xg.108696332T>CCA414133106COL4A5c.5030T>C (p.Leu1677Ser)
c.5012T>C (p.Leu1671Ser)
n.1524T>C
n.2718T>C
c.255T>C (n.255T>C)
c.360T>C
c.5021T>C (p.Leu1674Ser)
c.4706T>C (p.Leu1569Ser)
c.2603T>C (p.Leu868Ser)
c.5045T>C (p.Leu1682Ser)
c.5036T>C (p.Leu1679Ser)
c.5027T>C (p.Leu1676Ser)
c.3365T>C (p.Leu1122Ser)
Xg.108696332T>GCA414133107COL4A5c.5030T>G (p.Leu1677Trp)
c.5012T>G (p.Leu1671Trp)
n.1524T>G
n.2718T>G
c.255T>G (n.255T>G)
c.360T>G
c.5021T>G (p.Leu1674Trp)
c.4706T>G (p.Leu1569Trp)
c.2603T>G (p.Leu868Trp)
c.5045T>G (p.Leu1682Trp)
c.5036T>G (p.Leu1679Trp)
c.5027T>G (p.Leu1676Trp)
c.3365T>G (p.Leu1122Trp)
Xg.108696332_108696333delCA2579677351COL4A5c.5030_5031del (p.Leu1677Ter)
c.5012_5013del (p.Leu1671Ter)
n.1524_1525del
n.2718_2719del
c.255_256del (n.255_256del)
c.360_361del
c.5021_5022del (p.Leu1674Ter)
c.4706_4707del (p.Leu1569Ter)
c.2603_2604del (p.Leu868Ter)
c.5045_5046del (p.Leu1682Ter)
c.5036_5037del (p.Leu1679Ter)
c.5027_5028del (p.Leu1676Ter)
c.3365_3366del (p.Leu1122Ter)
Xg.108696333G>ACA517926347COL4A5c.5031G>A (p.Leu1677=)
c.5013G>A (p.Leu1671=)
n.1525G>A
n.2719G>A
c.256G>A (n.256G>A)
c.361G>A
c.5022G>A (p.Leu1674=)
c.4707G>A (p.Leu1569=)
c.2604G>A (p.Leu868=)
c.5046G>A (p.Leu1682=)
c.5037G>A (p.Leu1679=)
c.5028G>A (p.Leu1676=)
c.3366G>A (p.Leu1122=)
Xg.108696333G>CCA414133108COL4A5c.5031G>C (p.Leu1677Phe)
c.5013G>C (p.Leu1671Phe)
n.1525G>C
n.2719G>C
c.256G>C (n.256G>C)
c.361G>C
c.5022G>C (p.Leu1674Phe)
c.4707G>C (p.Leu1569Phe)
c.2604G>C (p.Leu868Phe)
c.5046G>C (p.Leu1682Phe)
c.5037G>C (p.Leu1679Phe)
c.5028G>C (p.Leu1676Phe)
c.3366G>C (p.Leu1122Phe)
Xg.108696333G>TCA414133109COL4A5c.5031G>T (p.Leu1677Phe)
c.5013G>T (p.Leu1671Phe)
n.1525G>T
n.2719G>T
c.256G>T (n.256G>T)
c.361G>T
c.5022G>T (p.Leu1674Phe)
c.4707G>T (p.Leu1569Phe)
c.2604G>T (p.Leu868Phe)
c.5046G>T (p.Leu1682Phe)
c.5037G>T (p.Leu1679Phe)
c.5028G>T (p.Leu1676Phe)
c.3366G>T (p.Leu1122Phe)
Xg.108696334A>CCA517926351COL4A5c.5032A>C (p.Arg1678=)
c.5014A>C (p.Arg1672=)
n.1526A>C
n.2720A>C
c.257A>C (n.257A>C)
c.362A>C
c.5023A>C (p.Arg1675=)
c.4708A>C (p.Arg1570=)
c.2605A>C (p.Arg869=)
c.5047A>C (p.Arg1683=)
c.5038A>C (p.Arg1680=)
c.5029A>C (p.Arg1677=)
c.3367A>C (p.Arg1123=)
Xg.108696334A>GCA414133110COL4A5c.5032A>G (p.Arg1678Gly)
c.5014A>G (p.Arg1672Gly)
n.1526A>G
n.2720A>G
c.257A>G (n.257A>G)
c.362A>G
c.5023A>G (p.Arg1675Gly)
c.4708A>G (p.Arg1570Gly)
c.2605A>G (p.Arg869Gly)
c.5047A>G (p.Arg1683Gly)
c.5038A>G (p.Arg1680Gly)
c.5029A>G (p.Arg1677Gly)
c.3367A>G (p.Arg1123Gly)
Xg.108696334A>TCA414133111COL4A5c.5032A>T (p.Arg1678Trp)
c.5014A>T (p.Arg1672Trp)
n.1526A>T
n.2720A>T
c.257A>T (n.257A>T)
c.362A>T
c.5023A>T (p.Arg1675Trp)
c.4708A>T (p.Arg1570Trp)
c.2605A>T (p.Arg869Trp)
c.5047A>T (p.Arg1683Trp)
c.5038A>T (p.Arg1680Trp)
c.5029A>T (p.Arg1677Trp)
c.3367A>T (p.Arg1123Trp)
Xg.108696335G>ACA414133112COL4A5c.5033G>A (p.Arg1678Lys)
c.5015G>A (p.Arg1672Lys)
n.1527G>A
n.2721G>A
c.258G>A (n.258G>A)
c.363G>A
c.5024G>A (p.Arg1675Lys)
c.4709G>A (p.Arg1570Lys)
c.2606G>A (p.Arg869Lys)
c.5048G>A (p.Arg1683Lys)
c.5039G>A (p.Arg1680Lys)
c.5030G>A (p.Arg1677Lys)
c.3368G>A (p.Arg1123Lys)
 dbSNP gnomAD v3 gnomAD v4
Xg.108696335G>CCA414133113COL4A5c.5033G>C (p.Arg1678Thr)
c.5015G>C (p.Arg1672Thr)
n.1527G>C
n.2721G>C
c.258G>C (n.258G>C)
c.363G>C
c.5024G>C (p.Arg1675Thr)
c.4709G>C (p.Arg1570Thr)
c.2606G>C (p.Arg869Thr)
c.5048G>C (p.Arg1683Thr)
c.5039G>C (p.Arg1680Thr)
c.5030G>C (p.Arg1677Thr)
c.3368G>C (p.Arg1123Thr)
Xg.108696335G=CA2450722071COL4A5c.5033G= (p.Arg1678=)
c.5015G= (p.Arg1672=)
n.1527G=
n.2721G=
c.258G= (n.258G=)
c.363G=
c.5024G= (p.Arg1675=)
c.4709G= (p.Arg1570=)
c.2606G= (p.Arg869=)
c.5048G= (p.Arg1683=)
c.5039G= (p.Arg1680=)
c.5030G= (p.Arg1677=)
c.3368G= (p.Arg1123=)
Xg.108696335G>TCA414133114COL4A5c.5033G>T (p.Arg1678Met)
c.5015G>T (p.Arg1672Met)
n.1527G>T
n.2721G>T
c.258G>T (n.258G>T)
c.363G>T
c.5024G>T (p.Arg1675Met)
c.4709G>T (p.Arg1570Met)
c.2606G>T (p.Arg869Met)
c.5048G>T (p.Arg1683Met)
c.5039G>T (p.Arg1680Met)
c.5030G>T (p.Arg1677Met)
c.3368G>T (p.Arg1123Met)
Xg.108696336G>ACA517926352COL4A5c.5034G>A (p.Arg1678=)
c.5016G>A (p.Arg1672=)
n.1528G>A
n.2722G>A
c.259G>A (n.259G>A)
c.364G>A
c.5025G>A (p.Arg1675=)
c.4710G>A (p.Arg1570=)
c.2607G>A (p.Arg869=)
c.5049G>A (p.Arg1683=)
c.5040G>A (p.Arg1680=)
c.5031G>A (p.Arg1677=)
c.3369G>A (p.Arg1123=)
 ClinVar gnomAD v4 COSMIC COSMIC
Xg.108696336G>CCA414133115COL4A5c.5034G>C (p.Arg1678Ser)
c.5016G>C (p.Arg1672Ser)
n.1528G>C
n.2722G>C
c.259G>C (n.259G>C)
c.364G>C
c.5025G>C (p.Arg1675Ser)
c.4710G>C (p.Arg1570Ser)
c.2607G>C (p.Arg869Ser)
c.5049G>C (p.Arg1683Ser)
c.5040G>C (p.Arg1680Ser)
c.5031G>C (p.Arg1677Ser)
c.3369G>C (p.Arg1123Ser)
 gnomAD v4
Xg.108696336G>TCA414133116COL4A5c.5034G>T (p.Arg1678Ser)
c.5016G>T (p.Arg1672Ser)
n.1528G>T
n.2722G>T
c.259G>T (n.259G>T)
c.364G>T
c.5025G>T (p.Arg1675Ser)
c.4710G>T (p.Arg1570Ser)
c.2607G>T (p.Arg869Ser)
c.5049G>T (p.Arg1683Ser)
c.5040G>T (p.Arg1680Ser)
c.5031G>T (p.Arg1677Ser)
c.3369G>T (p.Arg1123Ser)
Xg.108696337A>CCA414133118COL4A5c.5035A>C (p.Thr1679Pro)
c.5017A>C (p.Thr1673Pro)
n.1529A>C
n.2723A>C
c.260A>C (n.260A>C)
c.365A>C
c.5026A>C (p.Thr1676Pro)
c.4711A>C (p.Thr1571Pro)
c.2608A>C (p.Thr870Pro)
c.5050A>C (p.Thr1684Pro)
c.5041A>C (p.Thr1681Pro)
c.5032A>C (p.Thr1678Pro)
c.3370A>C (p.Thr1124Pro)
Xg.108696337A>GCA414133119COL4A5c.5035A>G (p.Thr1679Ala)
c.5017A>G (p.Thr1673Ala)
n.1529A>G
n.2723A>G
c.260A>G (n.260A>G)
c.365A>G
c.5026A>G (p.Thr1676Ala)
c.4711A>G (p.Thr1571Ala)
c.2608A>G (p.Thr870Ala)
c.5050A>G (p.Thr1684Ala)
c.5041A>G (p.Thr1681Ala)
c.5032A>G (p.Thr1678Ala)
c.3370A>G (p.Thr1124Ala)
Xg.108696337A>TCA414133117COL4A5c.5035A>T (p.Thr1679Ser)
c.5017A>T (p.Thr1673Ser)
n.1529A>T
n.2723A>T
c.260A>T (n.260A>T)
c.365A>T
c.5026A>T (p.Thr1676Ser)
c.4711A>T (p.Thr1571Ser)
c.2608A>T (p.Thr870Ser)
c.5050A>T (p.Thr1684Ser)
c.5041A>T (p.Thr1681Ser)
c.5032A>T (p.Thr1678Ser)
c.3370A>T (p.Thr1124Ser)
Xg.108696338C>ACA414133122COL4A5c.5036C>A (p.Thr1679Lys)
c.5018C>A (p.Thr1673Lys)
n.1530C>A
n.2724C>A
c.261C>A (n.261C>A)
c.366C>A
c.5027C>A (p.Thr1676Lys)
c.4712C>A (p.Thr1571Lys)
c.2609C>A (p.Thr870Lys)
c.5051C>A (p.Thr1684Lys)
c.5042C>A (p.Thr1681Lys)
c.5033C>A (p.Thr1678Lys)
c.3371C>A (p.Thr1124Lys)
Xg.108696338C>GCA414133120COL4A5c.5036C>G (p.Thr1679Arg)
c.5018C>G (p.Thr1673Arg)
n.1530C>G
n.2724C>G
c.261C>G (n.261C>G)
c.366C>G
c.5027C>G (p.Thr1676Arg)
c.4712C>G (p.Thr1571Arg)
c.2609C>G (p.Thr870Arg)
c.5051C>G (p.Thr1684Arg)
c.5042C>G (p.Thr1681Arg)
c.5033C>G (p.Thr1678Arg)
c.3371C>G (p.Thr1124Arg)
Xg.108696338C>TCA414133121COL4A5c.5036C>T (p.Thr1679Ile)
c.5018C>T (p.Thr1673Ile)
n.1530C>T
n.2724C>T
c.261C>T (n.261C>T)
c.366C>T
c.5027C>T (p.Thr1676Ile)
c.4712C>T (p.Thr1571Ile)
c.2609C>T (p.Thr870Ile)
c.5051C>T (p.Thr1684Ile)
c.5042C>T (p.Thr1681Ile)
c.5033C>T (p.Thr1678Ile)
c.3371C>T (p.Thr1124Ile)
Xg.108696339A=CA2450722072COL4A5c.5037A= (p.Thr1679=)
c.5019A= (p.Thr1673=)
n.1531A=
n.2725A=
c.262A= (n.262A=)
c.367A=
c.5028A= (p.Thr1676=)
c.4713A= (p.Thr1571=)
c.2610A= (p.Thr870=)
c.5052A= (p.Thr1684=)
c.5043A= (p.Thr1681=)
c.5034A= (p.Thr1678=)
c.3372A= (p.Thr1124=)
Xg.108696339A>CCA517926353COL4A5c.5037A>C (p.Thr1679=)
c.5019A>C (p.Thr1673=)
n.1531A>C
n.2725A>C
c.262A>C (n.262A>C)
c.367A>C
c.5028A>C (p.Thr1676=)
c.4713A>C (p.Thr1571=)
c.2610A>C (p.Thr870=)
c.5052A>C (p.Thr1684=)
c.5043A>C (p.Thr1681=)
c.5034A>C (p.Thr1678=)
c.3372A>C (p.Thr1124=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108696339A>GCA517926354COL4A5c.5037A>G (p.Thr1679=)
c.5019A>G (p.Thr1673=)
n.1531A>G
n.2725A>G
c.262A>G (n.262A>G)
c.367A>G
c.5028A>G (p.Thr1676=)
c.4713A>G (p.Thr1571=)
c.2610A>G (p.Thr870=)
c.5052A>G (p.Thr1684=)
c.5043A>G (p.Thr1681=)
c.5034A>G (p.Thr1678=)
c.3372A>G (p.Thr1124=)
 gnomAD v4
Xg.108696339A>TCA517926355COL4A5c.5037A>T (p.Thr1679=)
c.5019A>T (p.Thr1673=)
n.1531A>T
n.2725A>T
c.262A>T (n.262A>T)
c.367A>T
c.5028A>T (p.Thr1676=)
c.4713A>T (p.Thr1571=)
c.2610A>T (p.Thr870=)
c.5052A>T (p.Thr1684=)
c.5043A>T (p.Thr1681=)
c.5034A>T (p.Thr1678=)
c.3372A>T (p.Thr1124=)
Xg.108696340C>ACA517926356COL4A5c.5038C>A (p.Arg1680=)
c.5020C>A (p.Arg1674=)
n.1532C>A
n.2726C>A
c.263C>A (n.263C>A)
c.368C>A
c.5029C>A (p.Arg1677=)
c.4714C>A (p.Arg1572=)
c.2611C>A (p.Arg871=)
c.5053C>A (p.Arg1685=)
c.5044C>A (p.Arg1682=)
c.5035C>A (p.Arg1679=)
c.3373C>A (p.Arg1125=)
Xg.108696340C=CA2450722073COL4A5c.5038C= (p.Arg1680=)
c.5020C= (p.Arg1674=)
n.1532C=
n.2726C=
c.263C= (n.263C=)
c.368C=
c.5029C= (p.Arg1677=)
c.4714C= (p.Arg1572=)
c.2611C= (p.Arg871=)
c.5053C= (p.Arg1685=)
c.5044C= (p.Arg1682=)
c.5035C= (p.Arg1679=)
c.3373C= (p.Arg1125=)
Xg.108696340C>GCA414133123COL4A5c.5038C>G (p.Arg1680Gly)
c.5020C>G (p.Arg1674Gly)
n.1532C>G
n.2726C>G
c.263C>G (n.263C>G)
c.368C>G
c.5029C>G (p.Arg1677Gly)
c.4714C>G (p.Arg1572Gly)
c.2611C>G (p.Arg871Gly)
c.5053C>G (p.Arg1685Gly)
c.5044C>G (p.Arg1682Gly)
c.5035C>G (p.Arg1679Gly)
c.3373C>G (p.Arg1125Gly)
Xg.108696340C>TCA259143COL4A5c.5038C>T (p.Arg1680Ter)
c.5020C>T (p.Arg1674Ter)
n.1532C>T
n.2726C>T
c.263C>T (n.263C>T)
c.368C>T
c.5029C>T (p.Arg1677Ter)
c.4714C>T (p.Arg1572Ter)
c.2611C>T (p.Arg871Ter)
c.5053C>T (p.Arg1685Ter)
c.5044C>T (p.Arg1682Ter)
c.5035C>T (p.Arg1679Ter)
c.3373C>T (p.Arg1125Ter)
 ClinVar dbSNP gnomAD v4
Xg.108696341G>ACA414133124COL4A5c.5039G>A (p.Arg1680Gln)
c.5021G>A (p.Arg1674Gln)
n.1533G>A
n.2727G>A
c.264G>A (n.264G>A)
c.369G>A
c.5030G>A (p.Arg1677Gln)
c.4715G>A (p.Arg1572Gln)
c.2612G>A (p.Arg871Gln)
c.5054G>A (p.Arg1685Gln)
c.5045G>A (p.Arg1682Gln)
c.5036G>A (p.Arg1679Gln)
c.3374G>A (p.Arg1125Gln)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.108696341G>CCA414133125COL4A5c.5039G>C (p.Arg1680Pro)
c.5021G>C (p.Arg1674Pro)
n.1533G>C
n.2727G>C
c.264G>C (n.264G>C)
c.369G>C
c.5030G>C (p.Arg1677Pro)
c.4715G>C (p.Arg1572Pro)
c.2612G>C (p.Arg871Pro)
c.5054G>C (p.Arg1685Pro)
c.5045G>C (p.Arg1682Pro)
c.5036G>C (p.Arg1679Pro)
c.3374G>C (p.Arg1125Pro)
Xg.108696341G=CA2450722074COL4A5c.5039G= (p.Arg1680=)
c.5021G= (p.Arg1674=)
n.1533G=
n.2727G=
c.264G= (n.264G=)
c.369G=
c.5030G= (p.Arg1677=)
c.4715G= (p.Arg1572=)
c.2612G= (p.Arg871=)
c.5054G= (p.Arg1685=)
c.5045G= (p.Arg1682=)
c.5036G= (p.Arg1679=)
c.3374G= (p.Arg1125=)
Xg.108696341G>TCA414133126COL4A5c.5039G>T (p.Arg1680Leu)
c.5021G>T (p.Arg1674Leu)
n.1533G>T
n.2727G>T
c.264G>T (n.264G>T)
c.369G>T
c.5030G>T (p.Arg1677Leu)
c.4715G>T (p.Arg1572Leu)
c.2612G>T (p.Arg871Leu)
c.5054G>T (p.Arg1685Leu)
c.5045G>T (p.Arg1682Leu)
c.5036G>T (p.Arg1679Leu)
c.3374G>T (p.Arg1125Leu)
Xg.108696342A>CCA517926358COL4A5c.5040A>C (p.Arg1680=)
c.5022A>C (p.Arg1674=)
n.1534A>C
n.2728A>C
c.265A>C (n.265A>C)
c.370A>C
c.5031A>C (p.Arg1677=)
c.4716A>C (p.Arg1572=)
c.2613A>C (p.Arg871=)
c.5055A>C (p.Arg1685=)
c.5046A>C (p.Arg1682=)
c.5037A>C (p.Arg1679=)
c.3375A>C (p.Arg1125=)
Xg.108696342A>GCA517926359COL4A5c.5040A>G (p.Arg1680=)
c.5022A>G (p.Arg1674=)
n.1534A>G
n.2728A>G
c.265A>G (n.265A>G)
c.370A>G
c.5031A>G (p.Arg1677=)
c.4716A>G (p.Arg1572=)
c.2613A>G (p.Arg871=)
c.5055A>G (p.Arg1685=)
c.5046A>G (p.Arg1682=)
c.5037A>G (p.Arg1679=)
c.3375A>G (p.Arg1125=)
Xg.108696342A>TCA517926360COL4A5c.5040A>T (p.Arg1680=)
c.5022A>T (p.Arg1674=)
n.1534A>T
n.2728A>T
c.265A>T (n.265A>T)
c.370A>T
c.5031A>T (p.Arg1677=)
c.4716A>T (p.Arg1572=)
c.2613A>T (p.Arg871=)
c.5055A>T (p.Arg1685=)
c.5046A>T (p.Arg1682=)
c.5037A>T (p.Arg1679=)
c.3375A>T (p.Arg1125=)
Xg.108696343A>CCA414133127COL4A5c.5041A>C (p.Ile1681Leu)
c.5023A>C (p.Ile1675Leu)
n.1535A>C
n.2729A>C
c.266A>C (n.266A>C)
c.371A>C
c.5032A>C (p.Ile1678Leu)
c.4717A>C (p.Ile1573Leu)
c.2614A>C (p.Ile872Leu)
c.5056A>C (p.Ile1686Leu)
c.5047A>C (p.Ile1683Leu)
c.5038A>C (p.Ile1680Leu)
c.3376A>C (p.Ile1126Leu)
Xg.108696343A>GCA414133128COL4A5c.5041A>G (p.Ile1681Val)
c.5023A>G (p.Ile1675Val)
n.1535A>G
n.2729A>G
c.266A>G (n.266A>G)
c.371A>G
c.5032A>G (p.Ile1678Val)
c.4717A>G (p.Ile1573Val)
c.2614A>G (p.Ile872Val)
c.5056A>G (p.Ile1686Val)
c.5047A>G (p.Ile1683Val)
c.5038A>G (p.Ile1680Val)
c.3376A>G (p.Ile1126Val)
Xg.108696343A>TCA414133129COL4A5c.5041A>T (p.Ile1681Phe)
c.5023A>T (p.Ile1675Phe)
n.1535A>T
n.2729A>T
c.266A>T (n.266A>T)
c.371A>T
c.5032A>T (p.Ile1678Phe)
c.4717A>T (p.Ile1573Phe)
c.2614A>T (p.Ile872Phe)
c.5056A>T (p.Ile1686Phe)
c.5047A>T (p.Ile1683Phe)
c.5038A>T (p.Ile1680Phe)
c.3376A>T (p.Ile1126Phe)
Xg.108696344T>ACA414133130COL4A5c.5042T>A (p.Ile1681Asn)
c.5024T>A (p.Ile1675Asn)
n.1536T>A
n.2730T>A
c.267T>A (n.267T>A)
c.372T>A
c.5033T>A (p.Ile1678Asn)
c.4718T>A (p.Ile1573Asn)
c.2615T>A (p.Ile872Asn)
c.5057T>A (p.Ile1686Asn)
c.5048T>A (p.Ile1683Asn)
c.5039T>A (p.Ile1680Asn)
c.3377T>A (p.Ile1126Asn)
Xg.108696344T>CCA414133131COL4A5c.5042T>C (p.Ile1681Thr)
c.5024T>C (p.Ile1675Thr)
n.1536T>C
n.2730T>C
c.267T>C (n.267T>C)
c.372T>C
c.5033T>C (p.Ile1678Thr)
c.4718T>C (p.Ile1573Thr)
c.2615T>C (p.Ile872Thr)
c.5057T>C (p.Ile1686Thr)
c.5048T>C (p.Ile1683Thr)
c.5039T>C (p.Ile1680Thr)
c.3377T>C (p.Ile1126Thr)
Xg.108696344T>GCA414133132COL4A5c.5042T>G (p.Ile1681Ser)
c.5024T>G (p.Ile1675Ser)
n.1536T>G
n.2730T>G
c.267T>G (n.267T>G)
c.372T>G
c.5033T>G (p.Ile1678Ser)
c.4718T>G (p.Ile1573Ser)
c.2615T>G (p.Ile872Ser)
c.5057T>G (p.Ile1686Ser)
c.5048T>G (p.Ile1683Ser)
c.5039T>G (p.Ile1680Ser)
c.3377T>G (p.Ile1126Ser)
Xg.108696345T>ACA517926363COL4A5c.5043T>A (p.Ile1681=)
c.5025T>A (p.Ile1675=)
n.1537T>A
n.2731T>A
c.268T>A (n.268T>A)
c.373T>A
c.5034T>A (p.Ile1678=)
c.4719T>A (p.Ile1573=)
c.2616T>A (p.Ile872=)
c.5058T>A (p.Ile1686=)
c.5049T>A (p.Ile1683=)
c.5040T>A (p.Ile1680=)
c.3378T>A (p.Ile1126=)
Xg.108696345T>CCA517926364COL4A5c.5043T>C (p.Ile1681=)
c.5025T>C (p.Ile1675=)
n.1537T>C
n.2731T>C
c.268T>C (n.268T>C)
c.373T>C
c.5034T>C (p.Ile1678=)
c.4719T>C (p.Ile1573=)
c.2616T>C (p.Ile872=)
c.5058T>C (p.Ile1686=)
c.5049T>C (p.Ile1683=)
c.5040T>C (p.Ile1680=)
c.3378T>C (p.Ile1126=)
Xg.108696345T>GCA414133133COL4A5c.5043T>G (p.Ile1681Met)
c.5025T>G (p.Ile1675Met)
n.1537T>G
n.2731T>G
c.268T>G (n.268T>G)
c.373T>G
c.5034T>G (p.Ile1678Met)
c.4719T>G (p.Ile1573Met)
c.2616T>G (p.Ile872Met)
c.5058T>G (p.Ile1686Met)
c.5049T>G (p.Ile1683Met)
c.5040T>G (p.Ile1680Met)
c.3378T>G (p.Ile1126Met)
 ClinVar
Xg.108696346A>CCA414133134COL4A5c.5044A>C (p.Ser1682Arg)
c.5026A>C (p.Ser1676Arg)
n.1538A>C
n.2732A>C
c.269A>C (n.269A>C)
c.374A>C
c.5035A>C (p.Ser1679Arg)
c.4720A>C (p.Ser1574Arg)
c.2617A>C (p.Ser873Arg)
c.5059A>C (p.Ser1687Arg)
c.5050A>C (p.Ser1684Arg)
c.5041A>C (p.Ser1681Arg)
c.3379A>C (p.Ser1127Arg)
Xg.108696346A>GCA414133135COL4A5c.5044A>G (p.Ser1682Gly)
c.5026A>G (p.Ser1676Gly)
n.1538A>G
n.2732A>G
c.269A>G (n.269A>G)
c.374A>G
c.5035A>G (p.Ser1679Gly)
c.4720A>G (p.Ser1574Gly)
c.2617A>G (p.Ser873Gly)
c.5059A>G (p.Ser1687Gly)
c.5050A>G (p.Ser1684Gly)
c.5041A>G (p.Ser1681Gly)
c.3379A>G (p.Ser1127Gly)
Xg.108696346A>TCA414133136COL4A5c.5044A>T (p.Ser1682Cys)
c.5026A>T (p.Ser1676Cys)
n.1538A>T
n.2732A>T
c.269A>T (n.269A>T)
c.374A>T
c.5035A>T (p.Ser1679Cys)
c.4720A>T (p.Ser1574Cys)
c.2617A>T (p.Ser873Cys)
c.5059A>T (p.Ser1687Cys)
c.5050A>T (p.Ser1684Cys)
c.5041A>T (p.Ser1681Cys)
c.3379A>T (p.Ser1127Cys)
Xg.108696347G>ACA414133137COL4A5c.5045G>A (p.Ser1682Asn)
c.5027G>A (p.Ser1676Asn)
n.1539G>A
n.2733G>A
c.270G>A (n.270G>A)
c.375G>A
c.5036G>A (p.Ser1679Asn)
c.4721G>A (p.Ser1574Asn)
c.2618G>A (p.Ser873Asn)
c.5060G>A (p.Ser1687Asn)
c.5051G>A (p.Ser1684Asn)
c.5042G>A (p.Ser1681Asn)
c.3380G>A (p.Ser1127Asn)
Xg.108696347G>CCA414133138COL4A5c.5045G>C (p.Ser1682Thr)
c.5027G>C (p.Ser1676Thr)
n.1539G>C
n.2733G>C
c.270G>C (n.270G>C)
c.375G>C
c.5036G>C (p.Ser1679Thr)
c.4721G>C (p.Ser1574Thr)
c.2618G>C (p.Ser873Thr)
c.5060G>C (p.Ser1687Thr)
c.5051G>C (p.Ser1684Thr)
c.5042G>C (p.Ser1681Thr)
c.3380G>C (p.Ser1127Thr)
Xg.108696347G>TCA414133139COL4A5c.5045G>T (p.Ser1682Ile)
c.5027G>T (p.Ser1676Ile)
n.1539G>T
n.2733G>T
c.270G>T (n.270G>T)
c.375G>T
c.5036G>T (p.Ser1679Ile)
c.4721G>T (p.Ser1574Ile)
c.2618G>T (p.Ser873Ile)
c.5060G>T (p.Ser1687Ile)
c.5051G>T (p.Ser1684Ile)
c.5042G>T (p.Ser1681Ile)
c.3380G>T (p.Ser1127Ile)
Xg.108696348C>ACA414133140COL4A5c.5046C>A (p.Ser1682Arg)
c.5028C>A (p.Ser1676Arg)
n.1540C>A
n.2734C>A
c.271C>A (n.271C>A)
c.376C>A
c.5037C>A (p.Ser1679Arg)
c.4722C>A (p.Ser1574Arg)
c.2619C>A (p.Ser873Arg)
c.5061C>A (p.Ser1687Arg)
c.5052C>A (p.Ser1684Arg)
c.5043C>A (p.Ser1681Arg)
c.3381C>A (p.Ser1127Arg)
Xg.108696348C>GCA414133141COL4A5c.5046C>G (p.Ser1682Arg)
c.5028C>G (p.Ser1676Arg)
n.1540C>G
n.2734C>G
c.271C>G (n.271C>G)
c.376C>G
c.5037C>G (p.Ser1679Arg)
c.4722C>G (p.Ser1574Arg)
c.2619C>G (p.Ser873Arg)
c.5061C>G (p.Ser1687Arg)
c.5052C>G (p.Ser1684Arg)
c.5043C>G (p.Ser1681Arg)
c.3381C>G (p.Ser1127Arg)
Xg.108696348C>TCA517926368COL4A5c.5046C>T (p.Ser1682=)
c.5028C>T (p.Ser1676=)
n.1540C>T
n.2734C>T
c.271C>T (n.271C>T)
c.376C>T
c.5037C>T (p.Ser1679=)
c.4722C>T (p.Ser1574=)
c.2619C>T (p.Ser873=)
c.5061C>T (p.Ser1687=)
c.5052C>T (p.Ser1684=)
c.5043C>T (p.Ser1681=)
c.3381C>T (p.Ser1127=)
 gnomAD v4 COSMIC COSMIC
Xg.108696349C>ACA517926369COL4A5c.5047C>A (p.Arg1683=)
c.5029C>A (p.Arg1677=)
n.1541C>A
n.2735C>A
c.272C>A (n.272C>A)
c.377C>A
c.5038C>A (p.Arg1680=)
c.4723C>A (p.Arg1575=)
c.2620C>A (p.Arg874=)
c.5062C>A (p.Arg1688=)
c.5053C>A (p.Arg1685=)
c.5044C>A (p.Arg1682=)
c.3382C>A (p.Arg1128=)
Xg.108696349C=CA2450722075COL4A5c.5047C= (p.Arg1683=)
c.5029C= (p.Arg1677=)
n.1541C=
n.2735C=
c.272C= (n.272C=)
c.377C=
c.5038C= (p.Arg1680=)
c.4723C= (p.Arg1575=)
c.2620C= (p.Arg874=)
c.5062C= (p.Arg1688=)
c.5053C= (p.Arg1685=)
c.5044C= (p.Arg1682=)
c.3382C= (p.Arg1128=)
Xg.108696349C>GCA414133142COL4A5c.5047C>G (p.Arg1683Gly)
c.5029C>G (p.Arg1677Gly)
n.1541C>G
n.2735C>G
c.272C>G (n.272C>G)
c.377C>G
c.5038C>G (p.Arg1680Gly)
c.4723C>G (p.Arg1575Gly)
c.2620C>G (p.Arg874Gly)
c.5062C>G (p.Arg1688Gly)
c.5053C>G (p.Arg1685Gly)
c.5044C>G (p.Arg1682Gly)
c.3382C>G (p.Arg1128Gly)
Xg.108696349C>TCA259147COL4A5c.5047C>T (p.Arg1683Ter)
c.5029C>T (p.Arg1677Ter)
n.1541C>T
n.2735C>T
c.272C>T (n.272C>T)
c.377C>T
c.5038C>T (p.Arg1680Ter)
c.4723C>T (p.Arg1575Ter)
c.2620C>T (p.Arg874Ter)
c.5062C>T (p.Arg1688Ter)
c.5053C>T (p.Arg1685Ter)
c.5044C>T (p.Arg1682Ter)
c.3382C>T (p.Arg1128Ter)
 ClinVar dbSNP
Xg.108696350G>ACA340981COL4A5c.5048G>A (p.Arg1683Gln)
c.5030G>A (p.Arg1677Gln)
n.1542G>A
n.2736G>A
c.273G>A (n.273G>A)
c.378G>A
c.5039G>A (p.Arg1680Gln)
c.4724G>A (p.Arg1575Gln)
c.2621G>A (p.Arg874Gln)
c.5063G>A (p.Arg1688Gln)
c.5054G>A (p.Arg1685Gln)
c.5045G>A (p.Arg1682Gln)
c.3383G>A (p.Arg1128Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.108696350G>CCA259150COL4A5c.5048G>C (p.Arg1683Pro)
c.5030G>C (p.Arg1677Pro)
n.1542G>C
n.2736G>C
c.273G>C (n.273G>C)
c.378G>C
c.5039G>C (p.Arg1680Pro)
c.4724G>C (p.Arg1575Pro)
c.2621G>C (p.Arg874Pro)
c.5063G>C (p.Arg1688Pro)
c.5054G>C (p.Arg1685Pro)
c.5045G>C (p.Arg1682Pro)
c.3383G>C (p.Arg1128Pro)
 dbSNP
Xg.108696350G=CA2450722076COL4A5c.5048G= (p.Arg1683=)
c.5030G= (p.Arg1677=)
n.1542G=
n.2736G=
c.273G= (n.273G=)
c.378G=
c.5039G= (p.Arg1680=)
c.4724G= (p.Arg1575=)
c.2621G= (p.Arg874=)
c.5063G= (p.Arg1688=)
c.5054G= (p.Arg1685=)
c.5045G= (p.Arg1682=)
c.3383G= (p.Arg1128=)
Xg.108696350G>TCA261107COL4A5c.5048G>T (p.Arg1683Leu)
c.5030G>T (p.Arg1677Leu)
n.1542G>T
n.2736G>T
c.273G>T (n.273G>T)
c.378G>T
c.5039G>T (p.Arg1680Leu)
c.4724G>T (p.Arg1575Leu)
c.2621G>T (p.Arg874Leu)
c.5063G>T (p.Arg1688Leu)
c.5054G>T (p.Arg1685Leu)
c.5045G>T (p.Arg1682Leu)
c.3383G>T (p.Arg1128Leu)
 dbSNP
Xg.108696351A=CA2450722077COL4A5c.5049A= (p.Arg1683=)
c.5031A= (p.Arg1677=)
n.1543A=
n.2737A=
c.274A= (n.274A=)
c.379A=
c.5040A= (p.Arg1680=)
c.4725A= (p.Arg1575=)
c.2622A= (p.Arg874=)
c.5064A= (p.Arg1688=)
c.5055A= (p.Arg1685=)
c.5046A= (p.Arg1682=)
c.3384A= (p.Arg1128=)
Xg.108696351A>CCA517926372COL4A5c.5049A>C (p.Arg1683=)
c.5031A>C (p.Arg1677=)
n.1543A>C
n.2737A>C
c.274A>C (n.274A>C)
c.379A>C
c.5040A>C (p.Arg1680=)
c.4725A>C (p.Arg1575=)
c.2622A>C (p.Arg874=)
c.5064A>C (p.Arg1688=)
c.5055A>C (p.Arg1685=)
c.5046A>C (p.Arg1682=)
c.3384A>C (p.Arg1128=)
Xg.108696351A>GCA517926373COL4A5c.5049A>G (p.Arg1683=)
c.5031A>G (p.Arg1677=)
n.1543A>G
n.2737A>G
c.274A>G (n.274A>G)
c.379A>G
c.5040A>G (p.Arg1680=)
c.4725A>G (p.Arg1575=)
c.2622A>G (p.Arg874=)
c.5064A>G (p.Arg1688=)
c.5055A>G (p.Arg1685=)
c.5046A>G (p.Arg1682=)
c.3384A>G (p.Arg1128=)
Xg.108696351A>TCA517926374COL4A5c.5049A>T (p.Arg1683=)
c.5031A>T (p.Arg1677=)
n.1543A>T
n.2737A>T
c.274A>T (n.274A>T)
c.379A>T
c.5040A>T (p.Arg1680=)
c.4725A>T (p.Arg1575=)
c.2622A>T (p.Arg874=)
c.5064A>T (p.Arg1688=)
c.5055A>T (p.Arg1685=)
c.5046A>T (p.Arg1682=)
c.3384A>T (p.Arg1128=)
 ClinVar dbSNP
Xg.108696352T>ACA414133144COL4A5c.5050T>A (p.Cys1684Ser)
c.5032T>A (p.Cys1678Ser)
n.1544T>A
n.2738T>A
c.275T>A (n.275T>A)
c.380T>A
c.5041T>A (p.Cys1681Ser)
c.4726T>A (p.Cys1576Ser)
c.2623T>A (p.Cys875Ser)
c.5065T>A (p.Cys1689Ser)
c.5056T>A (p.Cys1686Ser)
c.5047T>A (p.Cys1683Ser)
c.3385T>A (p.Cys1129Ser)
Xg.108696352T>CCA259153COL4A5c.5050T>C (p.Cys1684Arg)
c.5032T>C (p.Cys1678Arg)
n.1544T>C
n.2738T>C
c.275T>C (n.275T>C)
c.380T>C
c.5041T>C (p.Cys1681Arg)
c.4726T>C (p.Cys1576Arg)
c.2623T>C (p.Cys875Arg)
c.5065T>C (p.Cys1689Arg)
c.5056T>C (p.Cys1686Arg)
c.5047T>C (p.Cys1683Arg)
c.3385T>C (p.Cys1129Arg)
 dbSNP
Xg.108696352T>GCA414133143COL4A5c.5050T>G (p.Cys1684Gly)
c.5032T>G (p.Cys1678Gly)
n.1544T>G
n.2738T>G
c.275T>G (n.275T>G)
c.380T>G
c.5041T>G (p.Cys1681Gly)
c.4726T>G (p.Cys1576Gly)
c.2623T>G (p.Cys875Gly)
c.5065T>G (p.Cys1689Gly)
c.5056T>G (p.Cys1686Gly)
c.5047T>G (p.Cys1683Gly)
c.3385T>G (p.Cys1129Gly)
 ClinVar dbSNP
Xg.108696352T=CA2450722078COL4A5c.5050T= (p.Cys1684=)
c.5032T= (p.Cys1678=)
n.1544T=
n.2738T=
c.275T= (n.275T=)
c.380T=
c.5041T= (p.Cys1681=)
c.4726T= (p.Cys1576=)
c.2623T= (p.Cys875=)
c.5065T= (p.Cys1689=)
c.5056T= (p.Cys1686=)
c.5047T= (p.Cys1683=)
c.3385T= (p.Cys1129=)
Xg.108696353G>ACA414133145COL4A5c.5051G>A (p.Cys1684Tyr)
c.5033G>A (p.Cys1678Tyr)
n.1545G>A
n.2739G>A
c.276G>A (n.276G>A)
c.381G>A
c.5042G>A (p.Cys1681Tyr)
c.4727G>A (p.Cys1576Tyr)
c.2624G>A (p.Cys875Tyr)
c.5066G>A (p.Cys1689Tyr)
c.5057G>A (p.Cys1686Tyr)
c.5048G>A (p.Cys1683Tyr)
c.3386G>A (p.Cys1129Tyr)
 ClinVar dbSNP
Xg.108696353G>CCA414133146COL4A5c.5051G>C (p.Cys1684Ser)
c.5033G>C (p.Cys1678Ser)
n.1545G>C
n.2739G>C
c.276G>C (n.276G>C)
c.381G>C
c.5042G>C (p.Cys1681Ser)
c.4727G>C (p.Cys1576Ser)
c.2624G>C (p.Cys875Ser)
c.5066G>C (p.Cys1689Ser)
c.5057G>C (p.Cys1686Ser)
c.5048G>C (p.Cys1683Ser)
c.3386G>C (p.Cys1129Ser)
Xg.108696353G>TCA414133147COL4A5c.5051G>T (p.Cys1684Phe)
c.5033G>T (p.Cys1678Phe)
n.1545G>T
n.2739G>T
c.276G>T (n.276G>T)
c.381G>T
c.5042G>T (p.Cys1681Phe)
c.4727G>T (p.Cys1576Phe)
c.2624G>T (p.Cys875Phe)
c.5066G>T (p.Cys1689Phe)
c.5057G>T (p.Cys1686Phe)
c.5048G>T (p.Cys1683Phe)
c.3386G>T (p.Cys1129Phe)
Xg.108696353_108696354delinsGTCA2450722079COL4A5c.5051_5052delinsGT (p.Cys1684=)
c.5033_5034delinsGT (p.Cys1678=)
n.1545_1546delinsGT
n.2739_2740delinsGT
c.276_277delinsGT (n.276_277delinsGT)
c.381_382delinsGT
c.5042_5043delinsGT (p.Cys1681=)
c.4727_4728delinsGT (p.Cys1576=)
c.2624_2625delinsGT (p.Cys875=)
c.5066_5067delinsGT (p.Cys1689=)
c.5057_5058delinsGT (p.Cys1686=)
c.5048_5049delinsGT (p.Cys1683=)
c.3386_3387delinsGT (p.Cys1129=)
Xg.108696354delCA259156COL4A5c.5052del (p.Gln1685LysfsTer4)
c.5034del (p.Gln1679LysfsTer4)
n.1546del
n.2740del
c.277del (n.277del)
c.382del
c.5043del (p.Gln1682LysfsTer4)
c.4728del (p.Gln1577LysfsTer4)
c.2625del (p.Gln876LysfsTer4)
c.5067del (p.Gln1690LysfsTer4)
c.5058del (p.Gln1687LysfsTer4)
c.5049del (p.Gln1684LysfsTer4)
c.3387del (p.Gln1130LysfsTer4)
 dbSNP
Xg.108696354T>ACA414133148COL4A5c.5052T>A (p.Cys1684Ter)
c.5034T>A (p.Cys1678Ter)
n.1546T>A
n.2740T>A
c.277T>A (n.277T>A)
c.382T>A
c.5043T>A (p.Cys1681Ter)
c.4728T>A (p.Cys1576Ter)
c.2625T>A (p.Cys875Ter)
c.5067T>A (p.Cys1689Ter)
c.5058T>A (p.Cys1686Ter)
c.5049T>A (p.Cys1683Ter)
c.3387T>A (p.Cys1129Ter)
Xg.108696354T>CCA517926378COL4A5c.5052T>C (p.Cys1684=)
c.5034T>C (p.Cys1678=)
n.1546T>C
n.2740T>C
c.277T>C (n.277T>C)
c.382T>C
c.5043T>C (p.Cys1681=)
c.4728T>C (p.Cys1576=)
c.2625T>C (p.Cys875=)
c.5067T>C (p.Cys1689=)
c.5058T>C (p.Cys1686=)
c.5049T>C (p.Cys1683=)
c.3387T>C (p.Cys1129=)
Xg.108696354T>GCA259157COL4A5c.5052T>G (p.Cys1684Trp)
c.5034T>G (p.Cys1678Trp)
n.1546T>G
n.2740T>G
c.277T>G (n.277T>G)
c.382T>G
c.5043T>G (p.Cys1681Trp)
c.4728T>G (p.Cys1576Trp)
c.2625T>G (p.Cys875Trp)
c.5067T>G (p.Cys1689Trp)
c.5058T>G (p.Cys1686Trp)
c.5049T>G (p.Cys1683Trp)
c.3387T>G (p.Cys1129Trp)
 dbSNP
Xg.108696354T=CA2450722080COL4A5c.5052T= (p.Cys1684=)
c.5034T= (p.Cys1678=)
n.1546T=
n.2740T=
c.277T= (n.277T=)
c.382T=
c.5043T= (p.Cys1681=)
c.4728T= (p.Cys1576=)
c.2625T= (p.Cys875=)
c.5067T= (p.Cys1689=)
c.5058T= (p.Cys1686=)
c.5049T= (p.Cys1683=)
c.3387T= (p.Cys1129=)
Xg.108696355C>ACA414133149COL4A5c.5053C>A (p.Gln1685Lys)
c.5035C>A (p.Gln1679Lys)
n.1547C>A
n.2741C>A
c.278C>A (n.278C>A)
c.383C>A
c.5044C>A (p.Gln1682Lys)
c.4729C>A (p.Gln1577Lys)
c.2626C>A (p.Gln876Lys)
c.5068C>A (p.Gln1690Lys)
c.5059C>A (p.Gln1687Lys)
c.5050C>A (p.Gln1684Lys)
c.3388C>A (p.Gln1130Lys)
Xg.108696355C>GCA414133150COL4A5c.5053C>G (p.Gln1685Glu)
c.5035C>G (p.Gln1679Glu)
n.1547C>G
n.2741C>G
c.278C>G (n.278C>G)
c.383C>G
c.5044C>G (p.Gln1682Glu)
c.4729C>G (p.Gln1577Glu)
c.2626C>G (p.Gln876Glu)
c.5068C>G (p.Gln1690Glu)
c.5059C>G (p.Gln1687Glu)
c.5050C>G (p.Gln1684Glu)
c.3388C>G (p.Gln1130Glu)
Xg.108696355C>TCA414133151COL4A5c.5053C>T (p.Gln1685Ter)
c.5035C>T (p.Gln1679Ter)
n.1547C>T
n.2741C>T
c.278C>T (n.278C>T)
c.383C>T
c.5044C>T (p.Gln1682Ter)
c.4729C>T (p.Gln1577Ter)
c.2626C>T (p.Gln876Ter)
c.5068C>T (p.Gln1690Ter)
c.5059C>T (p.Gln1687Ter)
c.5050C>T (p.Gln1684Ter)
c.3388C>T (p.Gln1130Ter)
Xg.108696356A=CA2450722081COL4A5c.5054A= (p.Gln1685=)
c.5036A= (p.Gln1679=)
n.1548A=
n.2742A=
c.279A= (n.279A=)
c.384A=
c.5045A= (p.Gln1682=)
c.4730A= (p.Gln1577=)
c.2627A= (p.Gln876=)
c.5069A= (p.Gln1690=)
c.5060A= (p.Gln1687=)
c.5051A= (p.Gln1684=)
c.3389A= (p.Gln1130=)
Xg.108696356A>CCA414133152COL4A5c.5054A>C (p.Gln1685Pro)
c.5036A>C (p.Gln1679Pro)
n.1548A>C
n.2742A>C
c.279A>C (n.279A>C)
c.384A>C
c.5045A>C (p.Gln1682Pro)
c.4730A>C (p.Gln1577Pro)
c.2627A>C (p.Gln876Pro)
c.5069A>C (p.Gln1690Pro)
c.5060A>C (p.Gln1687Pro)
c.5051A>C (p.Gln1684Pro)
c.3389A>C (p.Gln1130Pro)
 ClinVar
Xg.108696356A>GCA414133153COL4A5c.5054A>G (p.Gln1685Arg)
c.5036A>G (p.Gln1679Arg)
n.1548A>G
n.2742A>G
c.279A>G (n.279A>G)
c.384A>G
c.5045A>G (p.Gln1682Arg)
c.4730A>G (p.Gln1577Arg)
c.2627A>G (p.Gln876Arg)
c.5069A>G (p.Gln1690Arg)
c.5060A>G (p.Gln1687Arg)
c.5051A>G (p.Gln1684Arg)
c.3389A>G (p.Gln1130Arg)
Xg.108696356A>TCA414133154COL4A5c.5054A>T (p.Gln1685Leu)
c.5036A>T (p.Gln1679Leu)
n.1548A>T
n.2742A>T
c.279A>T (n.279A>T)
c.384A>T
c.5045A>T (p.Gln1682Leu)
c.4730A>T (p.Gln1577Leu)
c.2627A>T (p.Gln876Leu)
c.5069A>T (p.Gln1690Leu)
c.5060A>T (p.Gln1687Leu)
c.5051A>T (p.Gln1684Leu)
c.3389A>T (p.Gln1130Leu)
Xg.108696357A=CA2450722082COL4A5c.5055A= (p.Gln1685=)
c.5037A= (p.Gln1679=)
n.1549A=
n.2743A=
c.280A= (n.280A=)
c.385A=
c.5046A= (p.Gln1682=)
c.4731A= (p.Gln1577=)
c.2628A= (p.Gln876=)
c.5070A= (p.Gln1690=)
c.5061A= (p.Gln1687=)
c.5052A= (p.Gln1684=)
c.3390A= (p.Gln1130=)
Xg.108696357A>CCA414133155COL4A5c.5055A>C (p.Gln1685His)
c.5037A>C (p.Gln1679His)
n.1549A>C
n.2743A>C
c.280A>C (n.280A>C)
c.385A>C
c.5046A>C (p.Gln1682His)
c.4731A>C (p.Gln1577His)
c.2628A>C (p.Gln876His)
c.5070A>C (p.Gln1690His)
c.5061A>C (p.Gln1687His)
c.5052A>C (p.Gln1684His)
c.3390A>C (p.Gln1130His)
Xg.108696357A>GCA517926380COL4A5c.5055A>G (p.Gln1685=)
c.5037A>G (p.Gln1679=)
n.1549A>G
n.2743A>G
c.280A>G (n.280A>G)
c.385A>G
c.5046A>G (p.Gln1682=)
c.4731A>G (p.Gln1577=)
c.2628A>G (p.Gln876=)
c.5070A>G (p.Gln1690=)
c.5061A>G (p.Gln1687=)
c.5052A>G (p.Gln1684=)
c.3390A>G (p.Gln1130=)
 dbSNP
Xg.108696357A>TCA414133156COL4A5c.5055A>T (p.Gln1685His)
c.5037A>T (p.Gln1679His)
n.1549A>T
n.2743A>T
c.280A>T (n.280A>T)
c.385A>T
c.5046A>T (p.Gln1682His)
c.4731A>T (p.Gln1577His)
c.2628A>T (p.Gln876His)
c.5070A>T (p.Gln1690His)
c.5061A>T (p.Gln1687His)
c.5052A>T (p.Gln1684His)
c.3390A>T (p.Gln1130His)
Xg.108696358G>ACA414133159COL4A5c.5056G>A (p.Val1686Met)
c.5038G>A (p.Val1680Met)
n.1550G>A
n.2744G>A
c.281G>A (n.281G>A)
c.386G>A
c.5047G>A (p.Val1683Met)
c.4732G>A (p.Val1578Met)
c.2629G>A (p.Val877Met)
c.5071G>A (p.Val1691Met)
c.5062G>A (p.Val1688Met)
c.5053G>A (p.Val1685Met)
c.3391G>A (p.Val1131Met)
Xg.108696358G>CCA414133158COL4A5c.5056G>C (p.Val1686Leu)
c.5038G>C (p.Val1680Leu)
n.1550G>C
n.2744G>C
c.281G>C (n.281G>C)
c.386G>C
c.5047G>C (p.Val1683Leu)
c.4732G>C (p.Val1578Leu)
c.2629G>C (p.Val877Leu)
c.5071G>C (p.Val1691Leu)
c.5062G>C (p.Val1688Leu)
c.5053G>C (p.Val1685Leu)
c.3391G>C (p.Val1131Leu)
Xg.108696358G>TCA414133157COL4A5c.5056G>T (p.Val1686Leu)
c.5038G>T (p.Val1680Leu)
n.1550G>T
n.2744G>T
c.281G>T (n.281G>T)
c.386G>T
c.5047G>T (p.Val1683Leu)
c.4732G>T (p.Val1578Leu)
c.2629G>T (p.Val877Leu)
c.5071G>T (p.Val1691Leu)
c.5062G>T (p.Val1688Leu)
c.5053G>T (p.Val1685Leu)
c.3391G>T (p.Val1131Leu)
Xg.108696359T>ACA414133160COL4A5c.5057T>A (p.Val1686Glu)
c.5039T>A (p.Val1680Glu)
n.1551T>A
n.2745T>A
c.282T>A (n.282T>A)
c.387T>A
c.5048T>A (p.Val1683Glu)
c.4733T>A (p.Val1578Glu)
c.2630T>A (p.Val877Glu)
c.5072T>A (p.Val1691Glu)
c.5063T>A (p.Val1688Glu)
c.5054T>A (p.Val1685Glu)
c.3392T>A (p.Val1131Glu)
Xg.108696359T>CCA414133161COL4A5c.5057T>C (p.Val1686Ala)
c.5039T>C (p.Val1680Ala)
n.1551T>C
n.2745T>C
c.282T>C (n.282T>C)
c.387T>C
c.5048T>C (p.Val1683Ala)
c.4733T>C (p.Val1578Ala)
c.2630T>C (p.Val877Ala)
c.5072T>C (p.Val1691Ala)
c.5063T>C (p.Val1688Ala)
c.5054T>C (p.Val1685Ala)
c.3392T>C (p.Val1131Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.108696359T>GCA414133162COL4A5c.5057T>G (p.Val1686Gly)
c.5039T>G (p.Val1680Gly)
n.1551T>G
n.2745T>G
c.282T>G (n.282T>G)
c.387T>G
c.5048T>G (p.Val1683Gly)
c.4733T>G (p.Val1578Gly)
c.2630T>G (p.Val877Gly)
c.5072T>G (p.Val1691Gly)
c.5063T>G (p.Val1688Gly)
c.5054T>G (p.Val1685Gly)
c.3392T>G (p.Val1131Gly)
Xg.108696359T=CA2450722083COL4A5c.5057T= (p.Val1686=)
c.5039T= (p.Val1680=)
n.1551T=
n.2745T=
c.282T= (n.282T=)
c.387T=
c.5048T= (p.Val1683=)
c.4733T= (p.Val1578=)
c.2630T= (p.Val877=)
c.5072T= (p.Val1691=)
c.5063T= (p.Val1688=)
c.5054T= (p.Val1685=)
c.3392T= (p.Val1131=)
Xg.108696360G>ACA517926384COL4A5c.5058G>A (p.Val1686=)
c.5040G>A (p.Val1680=)
n.1552G>A
n.2746G>A
c.283G>A (n.283G>A)
c.388G>A
c.5049G>A (p.Val1683=)
c.4734G>A (p.Val1578=)
c.2631G>A (p.Val877=)
c.5073G>A (p.Val1691=)
c.5064G>A (p.Val1688=)
c.5055G>A (p.Val1685=)
c.3393G>A (p.Val1131=)
 gnomAD v4
Xg.108696360G>CCA517926385COL4A5c.5058G>C (p.Val1686=)
c.5040G>C (p.Val1680=)
n.1552G>C
n.2746G>C
c.283G>C (n.283G>C)
c.388G>C
c.5049G>C (p.Val1683=)
c.4734G>C (p.Val1578=)
c.2631G>C (p.Val877=)
c.5073G>C (p.Val1691=)
c.5064G>C (p.Val1688=)
c.5055G>C (p.Val1685=)
c.3393G>C (p.Val1131=)
Xg.108696360G>TCA517926386COL4A5c.5058G>T (p.Val1686=)
c.5040G>T (p.Val1680=)
n.1552G>T
n.2746G>T
c.283G>T (n.283G>T)
c.388G>T
c.5049G>T (p.Val1683=)
c.4734G>T (p.Val1578=)
c.2631G>T (p.Val877=)
c.5073G>T (p.Val1691=)
c.5064G>T (p.Val1688=)
c.5055G>T (p.Val1685=)
c.3393G>T (p.Val1131=)
Xg.108696361T>ACA414133163COL4A5c.5059T>A (p.Cys1687Ser)
c.5041T>A (p.Cys1681Ser)
n.1553T>A
n.2747T>A
c.284T>A (n.284T>A)
c.389T>A
c.5050T>A (p.Cys1684Ser)
c.4735T>A (p.Cys1579Ser)
c.2632T>A (p.Cys878Ser)
c.5074T>A (p.Cys1692Ser)
c.5065T>A (p.Cys1689Ser)
c.5056T>A (p.Cys1686Ser)
c.3394T>A (p.Cys1132Ser)
Xg.108696361T>CCA414133164COL4A5c.5059T>C (p.Cys1687Arg)
c.5041T>C (p.Cys1681Arg)
n.1553T>C
n.2747T>C
c.284T>C (n.284T>C)
c.389T>C
c.5050T>C (p.Cys1684Arg)
c.4735T>C (p.Cys1579Arg)
c.2632T>C (p.Cys878Arg)
c.5074T>C (p.Cys1692Arg)
c.5065T>C (p.Cys1689Arg)
c.5056T>C (p.Cys1686Arg)
c.3394T>C (p.Cys1132Arg)
Xg.108696361T>GCA414133165COL4A5c.5059T>G (p.Cys1687Gly)
c.5041T>G (p.Cys1681Gly)
n.1553T>G
n.2747T>G
c.284T>G (n.284T>G)
c.389T>G
c.5050T>G (p.Cys1684Gly)
c.4735T>G (p.Cys1579Gly)
c.2632T>G (p.Cys878Gly)
c.5074T>G (p.Cys1692Gly)
c.5065T>G (p.Cys1689Gly)
c.5056T>G (p.Cys1686Gly)
c.3394T>G (p.Cys1132Gly)
Xg.108696361T=CA2450722084COL4A5c.5059T= (p.Cys1687=)
c.5041T= (p.Cys1681=)
n.1553T=
n.2747T=
c.284T= (n.284T=)
c.389T=
c.5050T= (p.Cys1684=)
c.4735T= (p.Cys1579=)
c.2632T= (p.Cys878=)
c.5074T= (p.Cys1692=)
c.5065T= (p.Cys1689=)
c.5056T= (p.Cys1686=)
c.3394T= (p.Cys1132=)
Xg.108696362G>ACA414133166COL4A5c.5060G>A (p.Cys1687Tyr)
c.5042G>A (p.Cys1681Tyr)
n.1554G>A
n.2748G>A
c.285G>A (n.285G>A)
c.390G>A
c.5051G>A (p.Cys1684Tyr)
c.4736G>A (p.Cys1579Tyr)
c.2633G>A (p.Cys878Tyr)
c.5075G>A (p.Cys1692Tyr)
c.5066G>A (p.Cys1689Tyr)
c.5057G>A (p.Cys1686Tyr)
c.3395G>A (p.Cys1132Tyr)
Xg.108696362G>CCA414133167COL4A5c.5060G>C (p.Cys1687Ser)
c.5042G>C (p.Cys1681Ser)
n.1554G>C
n.2748G>C
c.285G>C (n.285G>C)
c.390G>C
c.5051G>C (p.Cys1684Ser)
c.4736G>C (p.Cys1579Ser)
c.2633G>C (p.Cys878Ser)
c.5075G>C (p.Cys1692Ser)
c.5066G>C (p.Cys1689Ser)
c.5057G>C (p.Cys1686Ser)
c.3395G>C (p.Cys1132Ser)
Xg.108696362G=CA2450722085COL4A5c.5060G= (p.Cys1687=)
c.5042G= (p.Cys1681=)
n.1554G=
n.2748G=
c.285G= (n.285G=)
c.390G=
c.5051G= (p.Cys1684=)
c.4736G= (p.Cys1579=)
c.2633G= (p.Cys878=)
c.5075G= (p.Cys1692=)
c.5066G= (p.Cys1689=)
c.5057G= (p.Cys1686=)
c.3395G= (p.Cys1132=)
Xg.108696362G>TCA259159COL4A5c.5060G>T (p.Cys1687Phe)
c.5042G>T (p.Cys1681Phe)
n.1554G>T
n.2748G>T
c.285G>T (n.285G>T)
c.390G>T
c.5051G>T (p.Cys1684Phe)
c.4736G>T (p.Cys1579Phe)
c.2633G>T (p.Cys878Phe)
c.5075G>T (p.Cys1692Phe)
c.5066G>T (p.Cys1689Phe)
c.5057G>T (p.Cys1686Phe)
c.3395G>T (p.Cys1132Phe)
 dbSNP
Xg.108696363C>ACA414133168COL4A5c.5061C>A (p.Cys1687Ter)
c.5043C>A (p.Cys1681Ter)
n.1555C>A
n.2749C>A
c.286C>A (n.286C>A)
c.391C>A
c.5052C>A (p.Cys1684Ter)
c.4737C>A (p.Cys1579Ter)
c.2634C>A (p.Cys878Ter)
c.5076C>A (p.Cys1692Ter)
c.5067C>A (p.Cys1689Ter)
c.5058C>A (p.Cys1686Ter)
c.3396C>A (p.Cys1132Ter)
 gnomAD v4
Xg.108696363C>GCA414133169COL4A5c.5061C>G (p.Cys1687Trp)
c.5043C>G (p.Cys1681Trp)
n.1555C>G
n.2749C>G
c.286C>G (n.286C>G)
c.391C>G
c.5052C>G (p.Cys1684Trp)
c.4737C>G (p.Cys1579Trp)
c.2634C>G (p.Cys878Trp)
c.5076C>G (p.Cys1692Trp)
c.5067C>G (p.Cys1689Trp)
c.5058C>G (p.Cys1686Trp)
c.3396C>G (p.Cys1132Trp)
Xg.108696363C>TCA517926390COL4A5c.5061C>T (p.Cys1687=)
c.5043C>T (p.Cys1681=)
n.1555C>T
n.2749C>T
c.286C>T (n.286C>T)
c.391C>T
c.5052C>T (p.Cys1684=)
c.4737C>T (p.Cys1579=)
c.2634C>T (p.Cys878=)
c.5076C>T (p.Cys1692=)
c.5067C>T (p.Cys1689=)
c.5058C>T (p.Cys1686=)
c.3396C>T (p.Cys1132=)
 gnomAD v4
Xg.108696364A=CA2450722086COL4A5c.5062A= (p.Met1688=)
c.5044A= (p.Met1682=)
n.1556A=
n.2750A=
c.287A= (n.287A=)
c.392A=
c.5053A= (p.Met1685=)
c.4738A= (p.Met1580=)
c.2635A= (p.Met879=)
c.5077A= (p.Met1693=)
c.5068A= (p.Met1690=)
c.5059A= (p.Met1687=)
c.3397A= (p.Met1133=)
Xg.108696364A>CCA414133170COL4A5c.5062A>C (p.Met1688Leu)
c.5044A>C (p.Met1682Leu)
n.1556A>C
n.2750A>C
c.287A>C (n.287A>C)
c.392A>C
c.5053A>C (p.Met1685Leu)
c.4738A>C (p.Met1580Leu)
c.2635A>C (p.Met879Leu)
c.5077A>C (p.Met1693Leu)
c.5068A>C (p.Met1690Leu)
c.5059A>C (p.Met1687Leu)
c.3397A>C (p.Met1133Leu)
Xg.108696364A>GCA10489462COL4A5c.5062A>G (p.Met1688Val)
c.5044A>G (p.Met1682Val)
n.1556A>G
n.2750A>G
c.287A>G (n.287A>G)
c.392A>G
c.5053A>G (p.Met1685Val)
c.4738A>G (p.Met1580Val)
c.2635A>G (p.Met879Val)
c.5077A>G (p.Met1693Val)
c.5068A>G (p.Met1690Val)
c.5059A>G (p.Met1687Val)
c.3397A>G (p.Met1133Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108696364A>TCA414133171COL4A5c.5062A>T (p.Met1688Leu)
c.5044A>T (p.Met1682Leu)
n.1556A>T
n.2750A>T
c.287A>T (n.287A>T)
c.392A>T
c.5053A>T (p.Met1685Leu)
c.4738A>T (p.Met1580Leu)
c.2635A>T (p.Met879Leu)
c.5077A>T (p.Met1693Leu)
c.5068A>T (p.Met1690Leu)
c.5059A>T (p.Met1687Leu)
c.3397A>T (p.Met1133Leu)
Xg.108696365T>ACA414133173COL4A5c.5063T>A (p.Met1688Lys)
c.5045T>A (p.Met1682Lys)
n.1557T>A
n.2751T>A
c.288T>A (n.288T>A)
c.393T>A
c.5054T>A (p.Met1685Lys)
c.4739T>A (p.Met1580Lys)
c.2636T>A (p.Met879Lys)
c.5078T>A (p.Met1693Lys)
c.5069T>A (p.Met1690Lys)
c.5060T>A (p.Met1687Lys)
c.3398T>A (p.Met1133Lys)
Xg.108696365T>CCA414133174COL4A5c.5063T>C (p.Met1688Thr)
c.5045T>C (p.Met1682Thr)
n.1557T>C
n.2751T>C
c.288T>C (n.288T>C)
c.393T>C
c.5054T>C (p.Met1685Thr)
c.4739T>C (p.Met1580Thr)
c.2636T>C (p.Met879Thr)
c.5078T>C (p.Met1693Thr)
c.5069T>C (p.Met1690Thr)
c.5060T>C (p.Met1687Thr)
c.3398T>C (p.Met1133Thr)
 gnomAD v4
Xg.108696365T>GCA414133172COL4A5c.5063T>G (p.Met1688Arg)
c.5045T>G (p.Met1682Arg)
n.1557T>G
n.2751T>G
c.288T>G (n.288T>G)
c.393T>G
c.5054T>G (p.Met1685Arg)
c.4739T>G (p.Met1580Arg)
c.2636T>G (p.Met879Arg)
c.5078T>G (p.Met1693Arg)
c.5069T>G (p.Met1690Arg)
c.5060T>G (p.Met1687Arg)
c.3398T>G (p.Met1133Arg)
Xg.108696366G>ACA414133175COL4A5c.5064G>A (p.Met1688Ile)
c.5046G>A (p.Met1682Ile)
n.1558G>A
n.2752G>A
c.289G>A (n.289G>A)
c.394G>A
c.5055G>A (p.Met1685Ile)
c.4740G>A (p.Met1580Ile)
c.2637G>A (p.Met879Ile)
c.5079G>A (p.Met1693Ile)
c.5070G>A (p.Met1690Ile)
c.5061G>A (p.Met1687Ile)
c.3399G>A (p.Met1133Ile)
Xg.108696366G>CCA414133176COL4A5c.5064G>C (p.Met1688Ile)
c.5046G>C (p.Met1682Ile)
n.1558G>C
n.2752G>C
c.289G>C (n.289G>C)
c.394G>C
c.5055G>C (p.Met1685Ile)
c.4740G>C (p.Met1580Ile)
c.2637G>C (p.Met879Ile)
c.5079G>C (p.Met1693Ile)
c.5070G>C (p.Met1690Ile)
c.5061G>C (p.Met1687Ile)
c.3399G>C (p.Met1133Ile)
Xg.108696366G=CA2450722087COL4A5c.5064G= (p.Met1688=)
c.5046G= (p.Met1682=)
n.1558G=
n.2752G=
c.289G= (n.289G=)
c.394G=
c.5055G= (p.Met1685=)
c.4740G= (p.Met1580=)
c.2637G= (p.Met879=)
c.5079G= (p.Met1693=)
c.5070G= (p.Met1690=)
c.5061G= (p.Met1687=)
c.3399G= (p.Met1133=)
Xg.108696366G>TCA334063944COL4A5c.5064G>T (p.Met1688Ile)
c.5046G>T (p.Met1682Ile)
n.1558G>T
n.2752G>T
c.289G>T (n.289G>T)
c.394G>T
c.5055G>T (p.Met1685Ile)
c.4740G>T (p.Met1580Ile)
c.2637G>T (p.Met879Ile)
c.5079G>T (p.Met1693Ile)
c.5070G>T (p.Met1690Ile)
c.5061G>T (p.Met1687Ile)
c.3399G>T (p.Met1133Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.108696367A>CCA414133177COL4A5c.5065A>C (p.Lys1689Gln)
c.5047A>C (p.Lys1683Gln)
n.1559A>C
n.2753A>C
c.290A>C (n.290A>C)
c.395A>C
c.5056A>C (p.Lys1686Gln)
c.4741A>C (p.Lys1581Gln)
c.2638A>C (p.Lys880Gln)
c.5080A>C (p.Lys1694Gln)
c.5071A>C (p.Lys1691Gln)
c.5062A>C (p.Lys1688Gln)
c.3400A>C (p.Lys1134Gln)
Xg.108696367A>GCA414133179COL4A5c.5065A>G (p.Lys1689Glu)
c.5047A>G (p.Lys1683Glu)
n.1559A>G
n.2753A>G
c.290A>G (n.290A>G)
c.395A>G
c.5056A>G (p.Lys1686Glu)
c.4741A>G (p.Lys1581Glu)
c.2638A>G (p.Lys880Glu)
c.5080A>G (p.Lys1694Glu)
c.5071A>G (p.Lys1691Glu)
c.5062A>G (p.Lys1688Glu)
c.3400A>G (p.Lys1134Glu)
Xg.108696367A>TCA414133178COL4A5c.5065A>T (p.Lys1689Ter)
c.5047A>T (p.Lys1683Ter)
n.1559A>T
n.2753A>T
c.290A>T (n.290A>T)
c.395A>T
c.5056A>T (p.Lys1686Ter)
c.4741A>T (p.Lys1581Ter)
c.2638A>T (p.Lys880Ter)
c.5080A>T (p.Lys1694Ter)
c.5071A>T (p.Lys1691Ter)
c.5062A>T (p.Lys1688Ter)
c.3400A>T (p.Lys1134Ter)
Xg.108696368delCA2695235259COL4A5c.5066del (p.Lys1689ArgfsTer?)
c.5048del (p.Lys1683ArgfsTer?)
n.1560del
n.2754del
c.291del (n.291del)
c.396del
c.5057del (p.Lys1686ArgfsTer?)
c.4742del (p.Lys1581ArgfsTer?)
c.2639del (p.Lys880ArgfsTer?)
c.5081del (p.Lys1694ArgfsTer?)
c.5072del (p.Lys1691ArgfsTer?)
c.5063del (p.Lys1688ArgfsTer?)
c.3401del (p.Lys1134ArgfsTer?)
Xg.108696368A>CCA414133180COL4A5c.5066A>C (p.Lys1689Thr)
c.5048A>C (p.Lys1683Thr)
n.1560A>C
n.2754A>C
c.291A>C (n.291A>C)
c.396A>C
c.5057A>C (p.Lys1686Thr)
c.4742A>C (p.Lys1581Thr)
c.2639A>C (p.Lys880Thr)
c.5081A>C (p.Lys1694Thr)
c.5072A>C (p.Lys1691Thr)
c.5063A>C (p.Lys1688Thr)
c.3401A>C (p.Lys1134Thr)
Xg.108696368A>GCA414133182COL4A5c.5066A>G (p.Lys1689Arg)
c.5048A>G (p.Lys1683Arg)
n.1560A>G
n.2754A>G
c.291A>G (n.291A>G)
c.396A>G
c.5057A>G (p.Lys1686Arg)
c.4742A>G (p.Lys1581Arg)
c.2639A>G (p.Lys880Arg)
c.5081A>G (p.Lys1694Arg)
c.5072A>G (p.Lys1691Arg)
c.5063A>G (p.Lys1688Arg)
c.3401A>G (p.Lys1134Arg)
Xg.108696368A>TCA414133181COL4A5c.5066A>T (p.Lys1689Met)
c.5048A>T (p.Lys1683Met)
n.1560A>T
n.2754A>T
c.291A>T (n.291A>T)
c.396A>T
c.5057A>T (p.Lys1686Met)
c.4742A>T (p.Lys1581Met)
c.2639A>T (p.Lys880Met)
c.5081A>T (p.Lys1694Met)
c.5072A>T (p.Lys1691Met)
c.5063A>T (p.Lys1688Met)
c.3401A>T (p.Lys1134Met)
Xg.108696369G>ACA517926398COL4A5c.5067G>A (p.Lys1689=)
c.5049G>A (p.Lys1683=)
n.1561G>A
n.2755G>A
c.292G>A (n.292G>A)
c.397G>A
c.5058G>A (p.Lys1686=)
c.4743G>A (p.Lys1581=)
c.2640G>A (p.Lys880=)
c.5082G>A (p.Lys1694=)
c.5073G>A (p.Lys1691=)
c.5064G>A (p.Lys1688=)
c.3402G>A (p.Lys1134=)
Xg.108696369G>CCA414133183COL4A5c.5067G>C (p.Lys1689Asn)
c.5049G>C (p.Lys1683Asn)
n.1561G>C
n.2755G>C
c.292G>C (n.292G>C)
c.397G>C
c.5058G>C (p.Lys1686Asn)
c.4743G>C (p.Lys1581Asn)
c.2640G>C (p.Lys880Asn)
c.5082G>C (p.Lys1694Asn)
c.5073G>C (p.Lys1691Asn)
c.5064G>C (p.Lys1688Asn)
c.3402G>C (p.Lys1134Asn)
Xg.108696369G>TCA414133184COL4A5c.5067G>T (p.Lys1689Asn)
c.5049G>T (p.Lys1683Asn)
n.1561G>T
n.2755G>T
c.292G>T (n.292G>T)
c.397G>T
c.5058G>T (p.Lys1686Asn)
c.4743G>T (p.Lys1581Asn)
c.2640G>T (p.Lys880Asn)
c.5082G>T (p.Lys1694Asn)
c.5073G>T (p.Lys1691Asn)
c.5064G>T (p.Lys1688Asn)
c.3402G>T (p.Lys1134Asn)
Xg.108696370A>CCA517926400COL4A5c.5068A>C (p.Arg1690=)
c.5050A>C (p.Arg1684=)
n.1562A>C
n.2756A>C
c.293A>C (n.293A>C)
c.398A>C
c.5059A>C (p.Arg1687=)
c.4744A>C (p.Arg1582=)
c.2641A>C (p.Arg881=)
c.5083A>C (p.Arg1695=)
c.5074A>C (p.Arg1692=)
c.5065A>C (p.Arg1689=)
c.3403A>C (p.Arg1135=)
Xg.108696370A>GCA414133185COL4A5c.5068A>G (p.Arg1690Gly)
c.5050A>G (p.Arg1684Gly)
n.1562A>G
n.2756A>G
c.293A>G (n.293A>G)
c.398A>G
c.5059A>G (p.Arg1687Gly)
c.4744A>G (p.Arg1582Gly)
c.2641A>G (p.Arg881Gly)
c.5083A>G (p.Arg1695Gly)
c.5074A>G (p.Arg1692Gly)
c.5065A>G (p.Arg1689Gly)
c.3403A>G (p.Arg1135Gly)
Xg.108696370A>TCA414133186COL4A5c.5068A>T (p.Arg1690Trp)
c.5050A>T (p.Arg1684Trp)
n.1562A>T
n.2756A>T
c.293A>T (n.293A>T)
c.398A>T
c.5059A>T (p.Arg1687Trp)
c.4744A>T (p.Arg1582Trp)
c.2641A>T (p.Arg881Trp)
c.5083A>T (p.Arg1695Trp)
c.5074A>T (p.Arg1692Trp)
c.5065A>T (p.Arg1689Trp)
c.3403A>T (p.Arg1135Trp)
Xg.108696371G>ACA414133187COL4A5c.5069G>A (p.Arg1690Lys)
c.5051G>A (p.Arg1684Lys)
n.1563G>A
n.2757G>A
c.294G>A (n.294G>A)
c.399G>A
c.5060G>A (p.Arg1687Lys)
c.4745G>A (p.Arg1582Lys)
c.2642G>A (p.Arg881Lys)
c.5084G>A (p.Arg1695Lys)
c.5075G>A (p.Arg1692Lys)
c.5066G>A (p.Arg1689Lys)
c.3404G>A (p.Arg1135Lys)
Xg.108696371G>CCA414133188COL4A5c.5069G>C (p.Arg1690Thr)
c.5051G>C (p.Arg1684Thr)
n.1563G>C
n.2757G>C
c.294G>C (n.294G>C)
c.399G>C
c.5060G>C (p.Arg1687Thr)
c.4745G>C (p.Arg1582Thr)
c.2642G>C (p.Arg881Thr)
c.5084G>C (p.Arg1695Thr)
c.5075G>C (p.Arg1692Thr)
c.5066G>C (p.Arg1689Thr)
c.3404G>C (p.Arg1135Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.108696371G=CA2450722088COL4A5c.5069G= (p.Arg1690=)
c.5051G= (p.Arg1684=)
n.1563G=
n.2757G=
c.294G= (n.294G=)
c.399G=
c.5060G= (p.Arg1687=)
c.4745G= (p.Arg1582=)
c.2642G= (p.Arg881=)
c.5084G= (p.Arg1695=)
c.5075G= (p.Arg1692=)
c.5066G= (p.Arg1689=)
c.3404G= (p.Arg1135=)
Xg.108696371G>TCA414133189COL4A5c.5069G>T (p.Arg1690Met)
c.5051G>T (p.Arg1684Met)
n.1563G>T
n.2757G>T
c.294G>T (n.294G>T)
c.399G>T
c.5060G>T (p.Arg1687Met)
c.4745G>T (p.Arg1582Met)
c.2642G>T (p.Arg881Met)
c.5084G>T (p.Arg1695Met)
c.5075G>T (p.Arg1692Met)
c.5066G>T (p.Arg1689Met)
c.3404G>T (p.Arg1135Met)
Xg.108696372G>ACA517926401COL4A5c.5070G>A (p.Arg1690=)
c.5052G>A (p.Arg1684=)
n.1564G>A
n.2758G>A
c.295G>A (n.295G>A)
c.400G>A
c.5061G>A (p.Arg1687=)
c.4746G>A (p.Arg1582=)
c.2643G>A (p.Arg881=)
c.5085G>A (p.Arg1695=)
c.5076G>A (p.Arg1692=)
c.5067G>A (p.Arg1689=)
c.3405G>A (p.Arg1135=)
 ClinVar dbSNP
Xg.108696372G>CCA414133190COL4A5c.5070G>C (p.Arg1690Ser)
c.5052G>C (p.Arg1684Ser)
n.1564G>C
n.2758G>C
c.295G>C (n.295G>C)
c.400G>C
c.5061G>C (p.Arg1687Ser)
c.4746G>C (p.Arg1582Ser)
c.2643G>C (p.Arg881Ser)
c.5085G>C (p.Arg1695Ser)
c.5076G>C (p.Arg1692Ser)
c.5067G>C (p.Arg1689Ser)
c.3405G>C (p.Arg1135Ser)
Xg.108696372G>TCA414133191COL4A5c.5070G>T (p.Arg1690Ser)
c.5052G>T (p.Arg1684Ser)
n.1564G>T
n.2758G>T
c.295G>T (n.295G>T)
c.400G>T
c.5061G>T (p.Arg1687Ser)
c.4746G>T (p.Arg1582Ser)
c.2643G>T (p.Arg881Ser)
c.5085G>T (p.Arg1695Ser)
c.5076G>T (p.Arg1692Ser)
c.5067G>T (p.Arg1689Ser)
c.3405G>T (p.Arg1135Ser)
Xg.108696373A=CA2450722089COL4A5c.5071A= (p.Thr1691=)
c.5053A= (p.Thr1685=)
n.1565A=
n.2759A=
c.296A= (n.296A=)
c.401A=
c.5062A= (p.Thr1688=)
c.4747A= (p.Thr1583=)
c.2644A= (p.Thr882=)
c.5086A= (p.Thr1696=)
c.5077A= (p.Thr1693=)
c.5068A= (p.Thr1690=)
c.3406A= (p.Thr1136=)
Xg.108696373A>CCA414133192COL4A5c.5071A>C (p.Thr1691Pro)
c.5053A>C (p.Thr1685Pro)
n.1565A>C
n.2759A>C
c.296A>C (n.296A>C)
c.401A>C
c.5062A>C (p.Thr1688Pro)
c.4747A>C (p.Thr1583Pro)
c.2644A>C (p.Thr882Pro)
c.5086A>C (p.Thr1696Pro)
c.5077A>C (p.Thr1693Pro)
c.5068A>C (p.Thr1690Pro)
c.3406A>C (p.Thr1136Pro)
Xg.108696373A>GCA414133193COL4A5c.5071A>G (p.Thr1691Ala)
c.5053A>G (p.Thr1685Ala)
n.1565A>G
n.2759A>G
c.296A>G (n.296A>G)
c.401A>G
c.5062A>G (p.Thr1688Ala)
c.4747A>G (p.Thr1583Ala)
c.2644A>G (p.Thr882Ala)
c.5086A>G (p.Thr1696Ala)
c.5077A>G (p.Thr1693Ala)
c.5068A>G (p.Thr1690Ala)
c.3406A>G (p.Thr1136Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.108696373A>TCA414133194COL4A5c.5071A>T (p.Thr1691Ser)
c.5053A>T (p.Thr1685Ser)
n.1565A>T
n.2759A>T
c.296A>T (n.296A>T)
c.401A>T
c.5062A>T (p.Thr1688Ser)
c.4747A>T (p.Thr1583Ser)
c.2644A>T (p.Thr882Ser)
c.5086A>T (p.Thr1696Ser)
c.5077A>T (p.Thr1693Ser)
c.5068A>T (p.Thr1690Ser)
c.3406A>T (p.Thr1136Ser)
Xg.108696374C>ACA414133195COL4A5c.5072C>A (p.Thr1691Lys)
c.5054C>A (p.Thr1685Lys)
n.1566C>A
n.2760C>A
c.297C>A (n.297C>A)
c.402C>A
c.5063C>A (p.Thr1688Lys)
c.4748C>A (p.Thr1583Lys)
c.2645C>A (p.Thr882Lys)
c.5087C>A (p.Thr1696Lys)
c.5078C>A (p.Thr1693Lys)
c.5069C>A (p.Thr1690Lys)
c.3407C>A (p.Thr1136Lys)
Xg.108696374C>GCA414133196COL4A5c.5072C>G (p.Thr1691Arg)
c.5054C>G (p.Thr1685Arg)
n.1566C>G
n.2760C>G
c.297C>G (n.297C>G)
c.402C>G
c.5063C>G (p.Thr1688Arg)
c.4748C>G (p.Thr1583Arg)
c.2645C>G (p.Thr882Arg)
c.5087C>G (p.Thr1696Arg)
c.5078C>G (p.Thr1693Arg)
c.5069C>G (p.Thr1690Arg)
c.3407C>G (p.Thr1136Arg)
Xg.108696374C>TCA414133197COL4A5c.5072C>T (p.Thr1691Ile)
c.5054C>T (p.Thr1685Ile)
n.1566C>T
n.2760C>T
c.297C>T (n.297C>T)
c.402C>T
c.5063C>T (p.Thr1688Ile)
c.4748C>T (p.Thr1583Ile)
c.2645C>T (p.Thr882Ile)
c.5087C>T (p.Thr1696Ile)
c.5078C>T (p.Thr1693Ile)
c.5069C>T (p.Thr1690Ile)
c.3407C>T (p.Thr1136Ile)
Xg.108696375A>CCA517926402COL4A5c.5073A>C (p.Thr1691=)
c.5055A>C (p.Thr1685=)
n.1567A>C
n.2761A>C
c.298A>C (n.298A>C)
c.403A>C
c.5064A>C (p.Thr1688=)
c.4749A>C (p.Thr1583=)
c.2646A>C (p.Thr882=)
c.5088A>C (p.Thr1696=)
c.5079A>C (p.Thr1693=)
c.5070A>C (p.Thr1690=)
c.3408A>C (p.Thr1136=)
Xg.108696375A>GCA517926403COL4A5c.5073A>G (p.Thr1691=)
c.5055A>G (p.Thr1685=)
n.1567A>G
n.2761A>G
c.298A>G (n.298A>G)
c.403A>G
c.5064A>G (p.Thr1688=)
c.4749A>G (p.Thr1583=)
c.2646A>G (p.Thr882=)
c.5088A>G (p.Thr1696=)
c.5079A>G (p.Thr1693=)
c.5070A>G (p.Thr1690=)
c.3408A>G (p.Thr1136=)
 ClinVar gnomAD v4
Xg.108696375A>TCA517926404COL4A5c.5073A>T (p.Thr1691=)
c.5055A>T (p.Thr1685=)
n.1567A>T
n.2761A>T
c.298A>T (n.298A>T)
c.403A>T
c.5064A>T (p.Thr1688=)
c.4749A>T (p.Thr1583=)
c.2646A>T (p.Thr882=)
c.5088A>T (p.Thr1696=)
c.5079A>T (p.Thr1693=)
c.5070A>T (p.Thr1690=)
c.3408A>T (p.Thr1136=)
Xg.108696376_108696377delCA2579677352COL4A5c.5074_5075del (p.Ter1692ThrextTer3)
c.5056_5057del (p.Ter1686ThrextTer3)
n.1568_1569del
n.2762_2763del
c.299_300del (n.299_300del)
c.404_405del
c.5065_5066del (p.Ter1689ThrextTer3)
c.4750_4751del (p.Ter1584ThrextTer3)
c.2647_2648del (p.Ter883ThrextTer3)
c.5089_5090del (p.Ter1697ThrextTer3)
c.5080_5081del (p.Ter1694ThrextTer3)
c.5071_5072del (p.Ter1691ThrextTer3)
c.3409_3410del (p.Ter1137ThrextTer3)
Xg.108696376T>ACA414133200COL4A5c.5074T>A (p.Ter1692Lys)
c.5056T>A (p.Ter1686Lys)
n.1568T>A
n.2762T>A
c.299T>A (n.299T>A)
c.404T>A
c.5065T>A (p.Ter1689Lys)
c.4750T>A (p.Ter1584Lys)
c.2647T>A (p.Ter883Lys)
c.5089T>A (p.Ter1697Lys)
c.5080T>A (p.Ter1694Lys)
c.5071T>A (p.Ter1691Lys)
c.3409T>A (p.Ter1137Lys)
 ClinVar dbSNP gnomAD v4
Xg.108696376T>CCA414133199COL4A5c.5074T>C (p.Ter1692Gln)
c.5056T>C (p.Ter1686Gln)
n.1568T>C
n.2762T>C
c.299T>C (n.299T>C)
c.404T>C
c.5065T>C (p.Ter1689Gln)
c.4750T>C (p.Ter1584Gln)
c.2647T>C (p.Ter883Gln)
c.5089T>C (p.Ter1697Gln)
c.5080T>C (p.Ter1694Gln)
c.5071T>C (p.Ter1691Gln)
c.3409T>C (p.Ter1137Gln)
Xg.108696376T>GCA414133198COL4A5c.5074T>G (p.Ter1692Glu)
c.5056T>G (p.Ter1686Glu)
n.1568T>G
n.2762T>G
c.299T>G (n.299T>G)
c.404T>G
c.5065T>G (p.Ter1689Glu)
c.4750T>G (p.Ter1584Glu)
c.2647T>G (p.Ter883Glu)
c.5089T>G (p.Ter1697Glu)
c.5080T>G (p.Ter1694Glu)
c.5071T>G (p.Ter1691Glu)
c.3409T>G (p.Ter1137Glu)
Xg.108696376T=CA2450722090COL4A5c.5074T= (p.Ter1692=)
c.5056T= (p.Ter1686=)
n.1568T=
n.2762T=
c.299T= (n.299T=)
c.404T=
c.5065T= (p.Ter1689=)
c.4750T= (p.Ter1584=)
c.2647T= (p.Ter883=)
c.5089T= (p.Ter1697=)
c.5080T= (p.Ter1694=)
c.5071T= (p.Ter1691=)
c.3409T= (p.Ter1137=)

Number of alleles fetched