Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108580551_108580552insTGCCTCCTGGACCTCTAGTGCTTAGAATGAAAATGCATGTTCCAGTATTAACATTGATTTCCTTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAGCA2822895011COL4A5c.799_800insTGCCTCCTGGACCTCTAGTGCTTAGAATGAAAATGCATGTTCCAGTATTAACATTGATTTCCTTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAG
c.475_476insTGCCTCCTGGACCTCTAGTGCTTAGAATGAAAATGCATGTTCCAGTATTAACATTGATTTCCTTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAG
c.814_815insTGCCTCCTGGACCTCTAGTGCTTAGAATGAAAATGCATGTTCCAGTATTAACATTGATTTCCTTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAG
Xg.108580467A>TCA2579675966COL4A5c.781-66A>T (n.781-66A>T)
c.457-66A>T (n.457-66A>T)
c.796-66A>T (n.796-66A>T)
 gnomAD v4
Xg.108580470G>TCA2822895016COL4A5c.781-63G>T (n.781-63G>T)
c.457-63G>T (n.457-63G>T)
c.796-63G>T (n.796-63G>T)
Xg.108580471C>ACA2450682994COL4A5c.781-62C>A (n.781-62C>A)
c.457-62C>A (n.457-62C>A)
c.796-62C>A (n.796-62C>A)
 dbSNP
Xg.108580471C=CA2450682995COL4A5c.781-62C= (n.781-62C=)
c.457-62C= (n.457-62C=)
c.796-62C= (n.796-62C=)
Xg.108580471C>TCA334180600COL4A5c.781-62C>T (n.781-62C>T)
c.457-62C>T (n.457-62C>T)
c.796-62C>T (n.796-62C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108580473T>GCA2579675967COL4A5c.781-60T>G (n.781-60T>G)
c.457-60T>G (n.457-60T>G)
c.796-60T>G (n.796-60T>G)
 gnomAD v4
Xg.108580479G>ACA1136179737COL4A5c.781-54G>A (n.781-54G>A)
c.457-54G>A (n.457-54G>A)
c.796-54G>A (n.796-54G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108580479G=CA2450682996COL4A5c.781-54G= (n.781-54G=)
c.457-54G= (n.457-54G=)
c.796-54G= (n.796-54G=)
Xg.108580483A=CA2450682997COL4A5c.781-50A= (n.781-50A=)
c.457-50A= (n.457-50A=)
c.796-50A= (n.796-50A=)
Xg.108580483A>GCA643750278COL4A5c.781-50A>G (n.781-50A>G)
c.457-50A>G (n.457-50A>G)
c.796-50A>G (n.796-50A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.108580485G>TCA658421444COL4A5c.781-48G>T (n.781-48G>T)
c.457-48G>T (n.457-48G>T)
c.796-48G>T (n.796-48G>T)
 COSMIC
Xg.108580486C>ACA2694412531COL4A5c.781-47C>A (n.781-47C>A)
c.457-47C>A (n.457-47C>A)
c.796-47C>A (n.796-47C>A)
 gnomAD v4
Xg.108580486C>TCA2694412532COL4A5c.781-47C>T (n.781-47C>T)
c.457-47C>T (n.457-47C>T)
c.796-47C>T (n.796-47C>T)
 gnomAD v4
Xg.108580487A=CA2450682998COL4A5c.781-46A= (n.781-46A=)
c.457-46A= (n.457-46A=)
c.796-46A= (n.796-46A=)
Xg.108580487A>GCA334180602COL4A5c.781-46A>G (n.781-46A>G)
c.457-46A>G (n.457-46A>G)
c.796-46A>G (n.796-46A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580489G>ACA643750280COL4A5c.781-44G>A (n.781-44G>A)
c.457-44G>A (n.457-44G>A)
c.796-44G>A (n.796-44G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.108580489G=CA2450682999COL4A5c.781-44G= (n.781-44G=)
c.457-44G= (n.457-44G=)
c.796-44G= (n.796-44G=)
Xg.108580489G>TCA869793690COL4A5c.781-44G>T (n.781-44G>T)
c.457-44G>T (n.457-44G>T)
c.796-44G>T (n.796-44G>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108580491T>CCA643750282COL4A5c.781-42T>C (n.781-42T>C)
c.457-42T>C (n.457-42T>C)
c.796-42T>C (n.796-42T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108580491T=CA2450683000COL4A5c.781-42T= (n.781-42T=)
c.457-42T= (n.457-42T=)
c.796-42T= (n.796-42T=)
Xg.108580492C>ACA2579675968COL4A5c.781-41C>A (n.781-41C>A)
c.457-41C>A (n.457-41C>A)
c.796-41C>A (n.796-41C>A)
 gnomAD v4
Xg.108580492C>TCA2694412537COL4A5c.781-41C>T (n.781-41C>T)
c.457-41C>T (n.457-41C>T)
c.796-41C>T (n.796-41C>T)
 gnomAD v4
Xg.108580493C>ACA2694412538COL4A5c.781-40C>A (n.781-40C>A)
c.457-40C>A (n.457-40C>A)
c.796-40C>A (n.796-40C>A)
 gnomAD v4
Xg.108580493C=CA2450683001COL4A5c.781-40C= (n.781-40C=)
c.457-40C= (n.457-40C=)
c.796-40C= (n.796-40C=)
Xg.108580493C>TCA869793694COL4A5c.781-40C>T (n.781-40C>T)
c.457-40C>T (n.457-40C>T)
c.796-40C>T (n.796-40C>T)
 dbSNP gnomAD v4
Xg.108580494A=CA2450683002COL4A5c.781-39A= (n.781-39A=)
c.457-39A= (n.457-39A=)
c.796-39A= (n.796-39A=)
Xg.108580494A>CCA10488568COL4A5c.781-39A>C (n.781-39A>C)
c.457-39A>C (n.457-39A>C)
c.796-39A>C (n.796-39A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580494A>GCA10488569COL4A5c.781-39A>G (n.781-39A>G)
c.457-39A>G (n.457-39A>G)
c.796-39A>G (n.796-39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580495G>ACA2694412541COL4A5c.781-38G>A (n.781-38G>A)
c.457-38G>A (n.457-38G>A)
c.796-38G>A (n.796-38G>A)
 gnomAD v4
Xg.108580497A>TCA2694412543COL4A5c.781-36A>T (n.781-36A>T)
c.457-36A>T (n.457-36A>T)
c.796-36A>T (n.796-36A>T)
 gnomAD v4
Xg.108580499T>CCA2694412544COL4A5c.781-34T>C (n.781-34T>C)
c.457-34T>C (n.457-34T>C)
c.796-34T>C (n.796-34T>C)
 gnomAD v4
Xg.108580500A>GCA2694412546COL4A5c.781-33A>G (n.781-33A>G)
c.457-33A>G (n.457-33A>G)
c.796-33A>G (n.796-33A>G)
 gnomAD v4
Xg.108580500A>TCA2694412545COL4A5c.781-33A>T (n.781-33A>T)
c.457-33A>T (n.457-33A>T)
c.796-33A>T (n.796-33A>T)
 gnomAD v4
Xg.108580502C>ACA2694412547COL4A5c.781-31C>A (n.781-31C>A)
c.457-31C>A (n.457-31C>A)
c.796-31C>A (n.796-31C>A)
 gnomAD v4
Xg.108580503A>GCA2694412549COL4A5c.781-30A>G (n.781-30A>G)
c.457-30A>G (n.457-30A>G)
c.796-30A>G (n.796-30A>G)
 gnomAD v4
Xg.108580504T>ACA2822895023COL4A5c.781-29T>A (n.781-29T>A)
c.457-29T>A (n.457-29T>A)
c.796-29T>A (n.796-29T>A)
Xg.108580504T>CCA2450683004COL4A5c.781-29T>C (n.781-29T>C)
c.457-29T>C (n.457-29T>C)
c.796-29T>C (n.796-29T>C)
 dbSNP gnomAD v4
Xg.108580504T>GCA2579675969COL4A5c.781-29T>G (n.781-29T>G)
c.457-29T>G (n.457-29T>G)
c.796-29T>G (n.796-29T>G)
 gnomAD v4
Xg.108580504T=CA2450683003COL4A5c.781-29T= (n.781-29T=)
c.457-29T= (n.457-29T=)
c.796-29T= (n.796-29T=)
Xg.108580505T>ACA2694412553COL4A5c.781-28T>A (n.781-28T>A)
c.457-28T>A (n.457-28T>A)
c.796-28T>A (n.796-28T>A)
 gnomAD v4
Xg.108580505T>CCA2694412555COL4A5c.781-28T>C (n.781-28T>C)
c.457-28T>C (n.457-28T>C)
c.796-28T>C (n.796-28T>C)
 gnomAD v4
Xg.108580506G>ACA2694412557COL4A5c.781-27G>A (n.781-27G>A)
c.457-27G>A (n.457-27G>A)
c.796-27G>A (n.796-27G>A)
 gnomAD v4
Xg.108580507A>TCA2694412559COL4A5c.781-26A>T (n.781-26A>T)
c.457-26A>T (n.457-26A>T)
c.796-26A>T (n.796-26A>T)
 gnomAD v4
Xg.108580508T>CCA643750284COL4A5c.781-25T>C (n.781-25T>C)
c.457-25T>C (n.457-25T>C)
c.796-25T>C (n.796-25T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108580508T=CA2450683005COL4A5c.781-25T= (n.781-25T=)
c.457-25T= (n.457-25T=)
c.796-25T= (n.796-25T=)
Xg.108580511C>ACA2694412561COL4A5c.781-22C>A (n.781-22C>A)
c.457-22C>A (n.457-22C>A)
c.796-22C>A (n.796-22C>A)
 gnomAD v4
Xg.108580512C>ACA2694412562COL4A5c.781-21C>A (n.781-21C>A)
c.457-21C>A (n.457-21C>A)
c.796-21C>A (n.796-21C>A)
 gnomAD v4
Xg.108580513T>CCA2694412564COL4A5c.781-20T>C (n.781-20T>C)
c.457-20T>C (n.457-20T>C)
c.796-20T>C (n.796-20T>C)
 gnomAD v4
Xg.108580513T>GCA10488570COL4A5c.781-20T>G (n.781-20T>G)
c.457-20T>G (n.457-20T>G)
c.796-20T>G (n.796-20T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580513T=CA2450683006COL4A5c.781-20T= (n.781-20T=)
c.457-20T= (n.457-20T=)
c.796-20T= (n.796-20T=)
Xg.108580515delCA2579675970COL4A5c.781-18del (n.781-18del)
c.457-18del (n.457-18del)
c.796-18del (n.796-18del)
 gnomAD v4
Xg.108580515T>CCA2694412565COL4A5c.781-18T>C (n.781-18T>C)
c.457-18T>C (n.457-18T>C)
c.796-18T>C (n.796-18T>C)
 gnomAD v4
Xg.108580516C>ACA2579675971COL4A5c.781-17C>A (n.781-17C>A)
c.457-17C>A (n.457-17C>A)
c.796-17C>A (n.796-17C>A)
 gnomAD v4
Xg.108580516C>TCA2697544683COL4A5c.781-17C>T (n.781-17C>T)
c.457-17C>T (n.457-17C>T)
c.796-17C>T (n.796-17C>T)
 ClinVar
Xg.108580517C>ACA2694412566COL4A5c.781-16C>A (n.781-16C>A)
c.457-16C>A (n.457-16C>A)
c.796-16C>A (n.796-16C>A)
 gnomAD v4
Xg.108580518C>TCA2694412567COL4A5c.781-15C>T (n.781-15C>T)
c.457-15C>T (n.457-15C>T)
c.796-15C>T (n.796-15C>T)
 gnomAD v4
Xg.108580519C>ACA334180608COL4A5c.781-14C>A (n.781-14C>A)
c.457-14C>A (n.457-14C>A)
c.796-14C>A (n.796-14C>A)
 ClinVar dbSNP
Xg.108580519C=CA2450683007COL4A5c.781-14C= (n.781-14C=)
c.457-14C= (n.457-14C=)
c.796-14C= (n.796-14C=)
Xg.108580522C>ACA334180610COL4A5c.781-11C>A (n.781-11C>A)
c.457-11C>A (n.457-11C>A)
c.796-11C>A (n.796-11C>A)
 dbSNP gnomAD v4
Xg.108580522C=CA2450683008COL4A5c.781-11C= (n.781-11C=)
c.457-11C= (n.457-11C=)
c.796-11C= (n.796-11C=)
Xg.108580524A>TCA2694412568COL4A5c.781-9A>T (n.781-9A>T)
c.457-9A>T (n.457-9A>T)
c.796-9A>T (n.796-9A>T)
 gnomAD v4
Xg.108580525C>GCA2580100188COL4A5c.781-8C>G (n.781-8C>G)
c.457-8C>G (n.457-8C>G)
c.796-8C>G (n.796-8C>G)
 ClinVar
Xg.108580526T>ACA2695235190COL4A5c.781-7T>A (n.781-7T>A)
c.457-7T>A (n.457-7T>A)
c.796-7T>A (n.796-7T>A)
Xg.108580527G>ACA2694412569COL4A5c.781-6G>A (n.781-6G>A)
c.457-6G>A (n.457-6G>A)
c.796-6G>A (n.796-6G>A)
 ClinVar gnomAD v4
Xg.108580528C>ACA2694412570COL4A5c.781-5C>A (n.781-5C>A)
c.457-5C>A (n.457-5C>A)
c.796-5C>A (n.796-5C>A)
 gnomAD v4
Xg.108580529A=CA2450683009COL4A5c.781-4A= (n.781-4A=)
c.457-4A= (n.457-4A=)
c.796-4A= (n.796-4A=)
Xg.108580529A>GCA2697544684COL4A5c.781-4A>G (n.781-4A>G)
c.457-4A>G (n.457-4A>G)
c.796-4A>G (n.796-4A>G)
 ClinVar
Xg.108580529A>TCA2450683010COL4A5c.781-4A>T (n.781-4A>T)
c.457-4A>T (n.457-4A>T)
c.796-4A>T (n.796-4A>T)
 dbSNP
Xg.108580530T>CCA2694412571COL4A5c.781-3T>C (n.781-3T>C)
c.457-3T>C (n.457-3T>C)
c.796-3T>C (n.796-3T>C)
 gnomAD v4
Xg.108580531A=CA2450683012COL4A5c.781-2A= (n.781-2A=)
c.457-2A= (n.457-2A=)
c.796-2A= (n.796-2A=)
Xg.108580531A>CCA413925466COL4A5c.781-2A>C (n.781-2A>C)
c.457-2A>C (n.457-2A>C)
c.796-2A>C (n.796-2A>C)
Xg.108580531A>GCA413925486COL4A5c.781-2A>G (n.781-2A>G)
c.457-2A>G (n.457-2A>G)
c.796-2A>G (n.796-2A>G)
 ClinVar dbSNP
Xg.108580531A>TCA413925471COL4A5c.781-2A>T (n.781-2A>T)
c.457-2A>T (n.457-2A>T)
c.796-2A>T (n.796-2A>T)
 dbSNP gnomAD v4
Xg.108580531_108580532delinsAGCA2450683013COL4A5c.781-2_781-1delinsAG (n.781-2_781-1delinsAG)
c.457-2_457-1delinsAG (n.457-2_457-1delinsAG)
c.796-2_796-1delinsAG (n.796-2_796-1delinsAG)
Xg.108580531_108580538delinsAGGGACTTCA2450683011COL4A5c.781-2_786delinsAGGGACTT
c.457-2_462delinsAGGGACTT
c.796-2_801delinsAGGGACTT
Xg.108580532G>ACA413925490COL4A5c.781-1G>A (n.781-1G>A)
c.457-1G>A (n.457-1G>A)
c.796-1G>A (n.796-1G>A)
 ClinVar dbSNP
Xg.108580532G>CCA413925509COL4A5c.781-1G>C (n.781-1G>C)
c.457-1G>C (n.457-1G>C)
c.796-1G>C (n.796-1G>C)
Xg.108580532G=CA2450683014COL4A5c.781-1G= (n.781-1G=)
c.457-1G= (n.457-1G=)
c.796-1G= (n.796-1G=)
Xg.108580532G>TCA413925514COL4A5c.781-1G>T (n.781-1G>T)
c.457-1G>T (n.457-1G>T)
c.796-1G>T (n.796-1G>T)
Xg.108580534delCA334180613COL4A5c.782del
c.458del
c.797del
 dbSNP
Xg.108580532_108580538delCA258322COL4A5c.781-1_786del
c.457-1_462del
c.796-1_801del
 dbSNP
Xg.108580533G>ACA413925526COL4A5c.781G>A (p.Gly261Arg)
c.457G>A (p.Gly153Arg)
c.796G>A (p.Gly266Arg)
Xg.108580533G>CCA413925517COL4A5c.781G>C (p.Gly261Arg)
c.457G>C (p.Gly153Arg)
c.796G>C (p.Gly266Arg)
 dbSNP
Xg.108580533G=CA2450683015COL4A5c.781G= (p.Gly261=)
c.457G= (p.Gly153=)
c.796G= (p.Gly266=)
Xg.108580533G>TCA413925521COL4A5c.781G>T (p.Gly261Ter)
c.457G>T (p.Gly153Ter)
c.796G>T (p.Gly266Ter)
Xg.108580534G>ACA413925528COL4A5c.782G>A (p.Gly261Glu)
c.458G>A (p.Gly153Glu)
c.797G>A (p.Gly266Glu)
 ClinVar dbSNP
Xg.108580534G>CCA413925530COL4A5c.782G>C (p.Gly261Ala)
c.458G>C (p.Gly153Ala)
c.797G>C (p.Gly266Ala)
Xg.108580534G>TCA413925534COL4A5c.782G>T (p.Gly261Val)
c.458G>T (p.Gly153Val)
c.797G>T (p.Gly266Val)
Xg.108580535A>CCA517991826COL4A5c.783A>C (p.Gly261=)
c.459A>C (p.Gly153=)
c.798A>C (p.Gly266=)
Xg.108580535A>GCA517991827COL4A5c.783A>G (p.Gly261=)
c.459A>G (p.Gly153=)
c.798A>G (p.Gly266=)
Xg.108580535A>TCA517991828COL4A5c.783A>T (p.Gly261=)
c.459A>T (p.Gly153=)
c.798A>T (p.Gly266=)
Xg.108580536C>ACA413925538COL4A5c.784C>A (p.Leu262Ile)
c.460C>A (p.Leu154Ile)
c.799C>A (p.Leu267Ile)
Xg.108580536C>GCA413925549COL4A5c.784C>G (p.Leu262Val)
c.460C>G (p.Leu154Val)
c.799C>G (p.Leu267Val)
Xg.108580536C>TCA413925554COL4A5c.784C>T (p.Leu262Phe)
c.460C>T (p.Leu154Phe)
c.799C>T (p.Leu267Phe)
Xg.108580537T>ACA413925557COL4A5c.785T>A (p.Leu262His)
c.461T>A (p.Leu154His)
c.800T>A (p.Leu267His)
 COSMIC COSMIC
Xg.108580537T>CCA413925558COL4A5c.785T>C (p.Leu262Pro)
c.461T>C (p.Leu154Pro)
c.800T>C (p.Leu267Pro)
Xg.108580537T>GCA413925559COL4A5c.785T>G (p.Leu262Arg)
c.461T>G (p.Leu154Arg)
c.800T>G (p.Leu267Arg)
Xg.108580538T>ACA517991829COL4A5c.786T>A (p.Leu262=)
c.462T>A (p.Leu154=)
c.801T>A (p.Leu267=)
Xg.108580538T>CCA517991830COL4A5c.786T>C (p.Leu262=)
c.462T>C (p.Leu154=)
c.801T>C (p.Leu267=)
Xg.108580538T>GCA517991831COL4A5c.786T>G (p.Leu262=)
c.462T>G (p.Leu154=)
c.801T>G (p.Leu267=)
Xg.108580538T=CA2450683017COL4A5c.786T= (p.Leu262=)
c.462T= (p.Leu154=)
c.801T= (p.Leu267=)
Xg.108580538_108580539delinsTCCA2450683016COL4A5c.786_787delinsTC (p.Leu262=)
c.462_463delinsTC (p.Leu154=)
c.801_802delinsTC (p.Leu267=)
Xg.108580538_108580539insACA334180615COL4A5c.786_787insA (p.Pro263ThrfsTer3)
c.462_463insA (p.Pro155ThrfsTer3)
c.801_802insA (p.Pro268ThrfsTer3)
 dbSNP
Xg.108580539C>ACA413925566COL4A5c.787C>A (p.Pro263Thr)
c.463C>A (p.Pro155Thr)
c.802C>A (p.Pro268Thr)
Xg.108580539C>GCA413925562COL4A5c.787C>G (p.Pro263Ala)
c.463C>G (p.Pro155Ala)
c.802C>G (p.Pro268Ala)
Xg.108580539C>TCA413925565COL4A5c.787C>T (p.Pro263Ser)
c.463C>T (p.Pro155Ser)
c.802C>T (p.Pro268Ser)
 gnomAD v3 gnomAD v4
Xg.108580540delCA261050COL4A5c.788del (p.Pro263LeufsTer?)
c.464del (p.Pro155LeufsTer?)
c.803del (p.Pro268LeufsTer?)
 dbSNP
Xg.108580540C>ACA413925568COL4A5c.788C>A (p.Pro263His)
c.464C>A (p.Pro155His)
c.803C>A (p.Pro268His)
Xg.108580540C>GCA413925570COL4A5c.788C>G (p.Pro263Arg)
c.464C>G (p.Pro155Arg)
c.803C>G (p.Pro268Arg)
Xg.108580540C>TCA413925574COL4A5c.788C>T (p.Pro263Leu)
c.464C>T (p.Pro155Leu)
c.803C>T (p.Pro268Leu)
Xg.108580541T>ACA517991832COL4A5c.789T>A (p.Pro263=)
c.465T>A (p.Pro155=)
c.804T>A (p.Pro268=)
Xg.108580541T>CCA517991833COL4A5c.789T>C (p.Pro263=)
c.465T>C (p.Pro155=)
c.804T>C (p.Pro268=)
Xg.108580541T>GCA517991834COL4A5c.789T>G (p.Pro263=)
c.465T>G (p.Pro155=)
c.804T>G (p.Pro268=)
Xg.108580542G>ACA413925582COL4A5c.790G>A (p.Gly264Ser)
c.466G>A (p.Gly156Ser)
c.805G>A (p.Gly269Ser)
Xg.108580542G>CCA258323COL4A5c.790G>C (p.Gly264Arg)
c.466G>C (p.Gly156Arg)
c.805G>C (p.Gly269Arg)
 dbSNP
Xg.108580542G=CA2450683018COL4A5c.790G= (p.Gly264=)
c.466G= (p.Gly156=)
c.805G= (p.Gly269=)
Xg.108580542G>TCA413925597COL4A5c.790G>T (p.Gly264Cys)
c.466G>T (p.Gly156Cys)
c.805G>T (p.Gly269Cys)
Xg.108580543G>ACA258325COL4A5c.791G>A (p.Gly264Asp)
c.467G>A (p.Gly156Asp)
c.806G>A (p.Gly269Asp)
 dbSNP
Xg.108580543G>CCA413925601COL4A5c.791G>C (p.Gly264Ala)
c.467G>C (p.Gly156Ala)
c.806G>C (p.Gly269Ala)
Xg.108580543G=CA2450683019COL4A5c.791G= (p.Gly264=)
c.467G= (p.Gly156=)
c.806G= (p.Gly269=)
Xg.108580543G>TCA413925603COL4A5c.791G>T (p.Gly264Val)
c.467G>T (p.Gly156Val)
c.806G>T (p.Gly269Val)
 COSMIC COSMIC
Xg.108580544T>ACA517991835COL4A5c.792T>A (p.Gly264=)
c.468T>A (p.Gly156=)
c.807T>A (p.Gly269=)
Xg.108580544T>CCA517991837COL4A5c.792T>C (p.Gly264=)
c.468T>C (p.Gly156=)
c.807T>C (p.Gly269=)
Xg.108580544T>GCA517991836COL4A5c.792T>G (p.Gly264=)
c.468T>G (p.Gly156=)
c.807T>G (p.Gly269=)
Xg.108580545G>ACA413925611COL4A5c.793G>A (p.Asp265Asn)
c.469G>A (p.Asp157Asn)
c.808G>A (p.Asp270Asn)
 dbSNP gnomAD v3 gnomAD v4
Xg.108580545G>CCA413925609COL4A5c.793G>C (p.Asp265His)
c.469G>C (p.Asp157His)
c.808G>C (p.Asp270His)
Xg.108580545G=CA2450683020COL4A5c.793G= (p.Asp265=)
c.469G= (p.Asp157=)
c.808G= (p.Asp270=)
Xg.108580545G>TCA413925607COL4A5c.793G>T (p.Asp265Tyr)
c.469G>T (p.Asp157Tyr)
c.808G>T (p.Asp270Tyr)
 gnomAD v4
Xg.108580546A>CCA413925613COL4A5c.794A>C (p.Asp265Ala)
c.470A>C (p.Asp157Ala)
c.809A>C (p.Asp270Ala)
Xg.108580546A>GCA413925615COL4A5c.794A>G (p.Asp265Gly)
c.470A>G (p.Asp157Gly)
c.809A>G (p.Asp270Gly)
Xg.108580546A>TCA413925620COL4A5c.794A>T (p.Asp265Val)
c.470A>T (p.Asp157Val)
c.809A>T (p.Asp270Val)
Xg.108580547C>ACA413925623COL4A5c.795C>A (p.Asp265Glu)
c.471C>A (p.Asp157Glu)
c.810C>A (p.Asp270Glu)
Xg.108580547C>GCA413925625COL4A5c.795C>G (p.Asp265Glu)
c.471C>G (p.Asp157Glu)
c.810C>G (p.Asp270Glu)
Xg.108580547C>TCA517991838COL4A5c.795C>T (p.Asp265=)
c.471C>T (p.Asp157=)
c.810C>T (p.Asp270=)
Xg.108580548C>ACA517991839COL4A5c.796C>A (p.Arg266=)
c.472C>A (p.Arg158=)
c.811C>A (p.Arg271=)
Xg.108580548C=CA2450683021COL4A5c.796C= (p.Arg266=)
c.472C= (p.Arg158=)
c.811C= (p.Arg271=)
Xg.108580548C>GCA10488571COL4A5c.796C>G (p.Arg266Gly)
c.472C>G (p.Arg158Gly)
c.811C>G (p.Arg271Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580548C>TCA258328COL4A5c.796C>T (p.Arg266Ter)
c.472C>T (p.Arg158Ter)
c.811C>T (p.Arg271Ter)
 ClinVar dbSNP
Xg.108580549G>ACA10488572COL4A5c.797G>A (p.Arg266Gln)
c.473G>A (p.Arg158Gln)
c.812G>A (p.Arg271Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580549G>CCA413925640COL4A5c.797G>C (p.Arg266Pro)
c.473G>C (p.Arg158Pro)
c.812G>C (p.Arg271Pro)
Xg.108580549G=CA2450683022COL4A5c.797G= (p.Arg266=)
c.473G= (p.Arg158=)
c.812G= (p.Arg271=)
Xg.108580549G>TCA413925642COL4A5c.797G>T (p.Arg266Leu)
c.473G>T (p.Arg158Leu)
c.812G>T (p.Arg271Leu)
Xg.108580550A=CA2450683023COL4A5c.798A= (p.Arg266=)
c.474A= (p.Arg158=)
c.813A= (p.Arg271=)
Xg.108580550A>CCA517991840COL4A5c.798A>C (p.Arg266=)
c.474A>C (p.Arg158=)
c.813A>C (p.Arg271=)
Xg.108580550A>GCA517991842COL4A5c.798A>G (p.Arg266=)
c.474A>G (p.Arg158=)
c.813A>G (p.Arg271=)
Xg.108580550A>TCA517991841COL4A5c.798A>T (p.Arg266=)
c.474A>T (p.Arg158=)
c.813A>T (p.Arg271=)
Xg.108580551G>ACA413925644COL4A5c.799G>A (p.Gly267Arg)
c.475G>A (p.Gly159Arg)
c.814G>A (p.Gly272Arg)
 ClinVar dbSNP
Xg.108580551G>CCA413925646COL4A5c.799G>C (p.Gly267Arg)
c.475G>C (p.Gly159Arg)
c.814G>C (p.Gly272Arg)
 ClinVar dbSNP
Xg.108580551G=CA2450683024COL4A5c.799G= (p.Gly267=)
c.475G= (p.Gly159=)
c.814G= (p.Gly272=)
Xg.108580551G>TCA413925650COL4A5c.799G>T (p.Gly267Trp)
c.475G>T (p.Gly159Trp)
c.814G>T (p.Gly272Trp)
Xg.108580553dupCA891843913COL4A5c.801dup (p.Pro268AlafsTer17)
c.477dup (p.Pro160AlafsTer17)
c.816dup (p.Pro273AlafsTer17)
Xg.108580552G>ACA413925657COL4A5c.800G>A (p.Gly267Glu)
c.476G>A (p.Gly159Glu)
c.815G>A (p.Gly272Glu)
Xg.108580552G>CCA413925665COL4A5c.800G>C (p.Gly267Ala)
c.476G>C (p.Gly159Ala)
c.815G>C (p.Gly272Ala)
Xg.108580552G=CA2450683025COL4A5c.800G= (p.Gly267=)
c.476G= (p.Gly159=)
c.815G= (p.Gly272=)
Xg.108580552G>TCA413925659COL4A5c.800G>T (p.Gly267Val)
c.476G>T (p.Gly159Val)
c.815G>T (p.Gly272Val)
 ClinVar dbSNP
Xg.108580553G>ACA517991843COL4A5c.801G>A (p.Gly267=)
c.477G>A (p.Gly159=)
c.816G>A (p.Gly272=)
 gnomAD v4
Xg.108580553G>CCA517991844COL4A5c.801G>C (p.Gly267=)
c.477G>C (p.Gly159=)
c.816G>C (p.Gly272=)
Xg.108580553G>TCA517991845COL4A5c.801G>T (p.Gly267=)
c.477G>T (p.Gly159=)
c.816G>T (p.Gly272=)
Xg.108580554C>ACA413925669COL4A5c.802C>A (p.Pro268Thr)
c.478C>A (p.Pro160Thr)
c.817C>A (p.Pro273Thr)
Xg.108580554C>GCA413925671COL4A5c.802C>G (p.Pro268Ala)
c.478C>G (p.Pro160Ala)
c.817C>G (p.Pro273Ala)
Xg.108580554C>TCA413925672COL4A5c.802C>T (p.Pro268Ser)
c.478C>T (p.Pro160Ser)
c.817C>T (p.Pro273Ser)
Xg.108580555C>ACA413925673COL4A5c.803C>A (p.Pro268His)
c.479C>A (p.Pro160His)
c.818C>A (p.Pro273His)
Xg.108580555C>GCA413925676COL4A5c.803C>G (p.Pro268Arg)
c.479C>G (p.Pro160Arg)
c.818C>G (p.Pro273Arg)
Xg.108580555C>TCA413925682COL4A5c.803C>T (p.Pro268Leu)
c.479C>T (p.Pro160Leu)
c.818C>T (p.Pro273Leu)
Xg.108580556T>ACA517991846COL4A5c.804T>A (p.Pro268=)
c.480T>A (p.Pro160=)
c.819T>A (p.Pro273=)
Xg.108580556T>CCA517991847COL4A5c.804T>C (p.Pro268=)
c.480T>C (p.Pro160=)
c.819T>C (p.Pro273=)
Xg.108580556T>GCA517991848COL4A5c.804T>G (p.Pro268=)
c.480T>G (p.Pro160=)
c.819T>G (p.Pro273=)
Xg.108580557C>ACA413925689COL4A5c.805C>A (p.Pro269Thr)
c.481C>A (p.Pro161Thr)
c.820C>A (p.Pro274Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.108580557C=CA2450683026COL4A5c.805C= (p.Pro269=)
c.481C= (p.Pro161=)
c.820C= (p.Pro274=)
Xg.108580557C>GCA413925693COL4A5c.805C>G (p.Pro269Ala)
c.481C>G (p.Pro161Ala)
c.820C>G (p.Pro274Ala)
 gnomAD v4
Xg.108580557C>TCA413925698COL4A5c.805C>T (p.Pro269Ser)
c.481C>T (p.Pro161Ser)
c.820C>T (p.Pro274Ser)
Xg.108580558C>ACA413925710COL4A5c.806C>A (p.Pro269His)
c.482C>A (p.Pro161His)
c.821C>A (p.Pro274His)
Xg.108580558C>GCA413925709COL4A5c.806C>G (p.Pro269Arg)
c.482C>G (p.Pro161Arg)
c.821C>G (p.Pro274Arg)
Xg.108580558C>TCA413925705COL4A5c.806C>T (p.Pro269Leu)
c.482C>T (p.Pro161Leu)
c.821C>T (p.Pro274Leu)
Xg.108580559T>ACA517991851COL4A5c.807T>A (p.Pro269=)
c.483T>A (p.Pro161=)
c.822T>A (p.Pro274=)
Xg.108580559T>CCA517991850COL4A5c.807T>C (p.Pro269=)
c.483T>C (p.Pro161=)
c.822T>C (p.Pro274=)
Xg.108580559T>GCA517991849COL4A5c.807T>G (p.Pro269=)
c.483T>G (p.Pro161=)
c.822T>G (p.Pro274=)
Xg.108580560G>ACA413925713COL4A5c.808G>A (p.Gly270Arg)
c.484G>A (p.Gly162Arg)
c.823G>A (p.Gly275Arg)
 ClinVar dbSNP
Xg.108580560G>CCA413925717COL4A5c.808G>C (p.Gly270Arg)
c.484G>C (p.Gly162Arg)
c.823G>C (p.Gly275Arg)
Xg.108580560G=CA2450683027COL4A5c.808G= (p.Gly270=)
c.484G= (p.Gly162=)
c.823G= (p.Gly275=)
Xg.108580560G>TCA413925714COL4A5c.808G>T (p.Gly270Ter)
c.484G>T (p.Gly162Ter)
c.823G>T (p.Gly275Ter)
Xg.108580561G>ACA413925720COL4A5c.809G>A (p.Gly270Glu)
c.485G>A (p.Gly162Glu)
c.824G>A (p.Gly275Glu)
Xg.108580561G>CCA413925724COL4A5c.809G>C (p.Gly270Ala)
c.485G>C (p.Gly162Ala)
c.824G>C (p.Gly275Ala)
Xg.108580561G>TCA413925729COL4A5c.809G>T (p.Gly270Val)
c.485G>T (p.Gly162Val)
c.824G>T (p.Gly275Val)
Xg.108580562A>CCA517991852COL4A5c.810A>C (p.Gly270=)
c.486A>C (p.Gly162=)
c.825A>C (p.Gly275=)
Xg.108580562A>GCA517991853COL4A5c.810A>G (p.Gly270=)
c.486A>G (p.Gly162=)
c.825A>G (p.Gly275=)
Xg.108580562A>TCA517991854COL4A5c.810A>T (p.Gly270=)
c.486A>T (p.Gly162=)
c.825A>T (p.Gly275=)
 gnomAD v4
Xg.108580562_108580563delinsACCA2450683028COL4A5c.810_811delinsAC (p.Gly270=)
c.486_487delinsAC (p.Gly162=)
c.825_826delinsAC (p.Gly275=)
Xg.108580563C>ACA413925736COL4A5c.811C>A (p.Pro271Thr)
c.487C>A (p.Pro163Thr)
c.826C>A (p.Pro276Thr)
Xg.108580563C>GCA413925740COL4A5c.811C>G (p.Pro271Ala)
c.487C>G (p.Pro163Ala)
c.826C>G (p.Pro276Ala)
Xg.108580563C>TCA413925745COL4A5c.811C>T (p.Pro271Ser)
c.487C>T (p.Pro163Ser)
c.826C>T (p.Pro276Ser)
 gnomAD v4
Xg.108580564delCA258331COL4A5c.812del (p.Pro271LeufsTer?)
c.488del (p.Pro163LeufsTer?)
c.827del (p.Pro276LeufsTer?)
 dbSNP
Xg.108580564C>ACA413925750COL4A5c.812C>A (p.Pro271His)
c.488C>A (p.Pro163His)
c.827C>A (p.Pro276His)
 gnomAD v4
Xg.108580564C>GCA413925754COL4A5c.812C>G (p.Pro271Arg)
c.488C>G (p.Pro163Arg)
c.827C>G (p.Pro276Arg)
 ClinVar dbSNP gnomAD v4
Xg.108580564C>TCA413925756COL4A5c.812C>T (p.Pro271Leu)
c.488C>T (p.Pro163Leu)
c.827C>T (p.Pro276Leu)
Xg.108580565T>ACA517991855COL4A5c.813T>A (p.Pro271=)
c.489T>A (p.Pro163=)
c.828T>A (p.Pro276=)
Xg.108580565T>CCA517991856COL4A5c.813T>C (p.Pro271=)
c.489T>C (p.Pro163=)
c.828T>C (p.Pro276=)
Xg.108580565T>GCA517991857COL4A5c.813T>G (p.Pro271=)
c.489T>G (p.Pro163=)
c.828T>G (p.Pro276=)
Xg.108580566C>ACA413925769COL4A5c.814C>A (p.Pro272Thr)
c.490C>A (p.Pro164Thr)
c.829C>A (p.Pro277Thr)
Xg.108580566C>GCA413925773COL4A5c.814C>G (p.Pro272Ala)
c.490C>G (p.Pro164Ala)
c.829C>G (p.Pro277Ala)
Xg.108580566C>TCA413925775COL4A5c.814C>T (p.Pro272Ser)
c.490C>T (p.Pro164Ser)
c.829C>T (p.Pro277Ser)
 gnomAD v4
Xg.108580567C>ACA413925788COL4A5c.815C>A (p.Pro272Gln)
c.491C>A (p.Pro164Gln)
c.830C>A (p.Pro277Gln)
Xg.108580567C>GCA413925805COL4A5c.815C>G (p.Pro272Arg)
c.491C>G (p.Pro164Arg)
c.830C>G (p.Pro277Arg)
Xg.108580567C>TCA413925802COL4A5c.815C>T (p.Pro272Leu)
c.491C>T (p.Pro164Leu)
c.830C>T (p.Pro277Leu)

Number of alleles fetched