Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108568710G>ACA2556112880COL4A5c.321+37G>A (n.321+37G>A)
n.505+37G>A
c.-4+37G>A (n.-4+37G>A)
c.336+37G>A (n.336+37G>A)
Xg.108568712A=CA2450679245COL4A5c.321+39A= (n.321+39A=)
n.505+39A=
c.-4+39A= (n.-4+39A=)
c.336+39A= (n.336+39A=)
Xg.108568712A>GCA869819928COL4A5c.321+39A>G (n.321+39A>G)
n.505+39A>G
c.-4+39A>G (n.-4+39A>G)
c.336+39A>G (n.336+39A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108568715G>ACA2579675795COL4A5c.321+42G>A (n.321+42G>A)
n.505+42G>A
c.-4+42G>A (n.-4+42G>A)
c.336+42G>A (n.336+42G>A)
 gnomAD v4
Xg.108568718A=CA2450679246COL4A5c.322-41A= (n.322-41A=)
n.506-41A=
c.-3-41A= (n.-3-41A=)
c.337-41A= (n.337-41A=)
Xg.108568718A>CCA10488428COL4A5c.322-41A>C (n.322-41A>C)
n.506-41A>C
c.-3-41A>C (n.-3-41A>C)
c.337-41A>C (n.337-41A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108568718A>TCA2579675796COL4A5c.322-41A>T (n.322-41A>T)
n.506-41A>T
c.-3-41A>T (n.-3-41A>T)
c.337-41A>T (n.337-41A>T)
Xg.108568719T>CCA2694439361COL4A5c.322-40T>C (n.322-40T>C)
n.506-40T>C
c.-3-40T>C (n.-3-40T>C)
c.337-40T>C (n.337-40T>C)
 gnomAD v4
Xg.108568720C=CA2450679247COL4A5c.322-39C= (n.322-39C=)
n.506-39C=
c.-3-39C= (n.-3-39C=)
c.337-39C= (n.337-39C=)
Xg.108568720C>TCA2450679248COL4A5c.322-39C>T (n.322-39C>T)
n.506-39C>T
c.-3-39C>T (n.-3-39C>T)
c.337-39C>T (n.337-39C>T)
 dbSNP
Xg.108568722A=CA2450679249COL4A5c.322-37A= (n.322-37A=)
n.506-37A=
c.-3-37A= (n.-3-37A=)
c.337-37A= (n.337-37A=)
Xg.108568722A>GCA10488429COL4A5c.322-37A>G (n.322-37A>G)
n.506-37A>G
c.-3-37A>G (n.-3-37A>G)
c.337-37A>G (n.337-37A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108568725A=CA2450679250COL4A5c.322-34A= (n.322-34A=)
n.506-34A=
c.-3-34A= (n.-3-34A=)
c.337-34A= (n.337-34A=)
Xg.108568725A>GCA643749186COL4A5c.322-34A>G (n.322-34A>G)
n.506-34A>G
c.-3-34A>G (n.-3-34A>G)
c.337-34A>G (n.337-34A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108568726C>ACA2579675797COL4A5c.322-33C>A (n.322-33C>A)
n.506-33C>A
c.-3-33C>A (n.-3-33C>A)
c.337-33C>A (n.337-33C>A)
Xg.108568726C=CA2450679251COL4A5c.322-33C= (n.322-33C=)
n.506-33C=
c.-3-33C= (n.-3-33C=)
c.337-33C= (n.337-33C=)
Xg.108568726C>TCA10488430COL4A5c.322-33C>T (n.322-33C>T)
n.506-33C>T
c.-3-33C>T (n.-3-33C>T)
c.337-33C>T (n.337-33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108568727A>GCA2694439362COL4A5c.322-32A>G (n.322-32A>G)
n.506-32A>G
c.-3-32A>G (n.-3-32A>G)
c.337-32A>G (n.337-32A>G)
 gnomAD v4
Xg.108568729A=CA2450679252COL4A5c.322-30A= (n.322-30A=)
n.506-30A=
c.-3-30A= (n.-3-30A=)
c.337-30A= (n.337-30A=)
Xg.108568729A>CCA643749189COL4A5c.322-30A>C (n.322-30A>C)
n.506-30A>C
c.-3-30A>C (n.-3-30A>C)
c.337-30A>C (n.337-30A>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108568730T>CCA2579675798COL4A5c.322-29T>C (n.322-29T>C)
n.506-29T>C
c.-3-29T>C (n.-3-29T>C)
c.337-29T>C (n.337-29T>C)
 gnomAD v4
Xg.108568731T>ACA2694439363COL4A5c.322-28T>A (n.322-28T>A)
n.506-28T>A
c.-3-28T>A (n.-3-28T>A)
c.337-28T>A (n.337-28T>A)
 gnomAD v4
Xg.108568735C>ACA2694439364COL4A5c.322-24C>A (n.322-24C>A)
n.506-24C>A
c.-3-24C>A (n.-3-24C>A)
c.337-24C>A (n.337-24C>A)
 gnomAD v4
Xg.108568735C=CA2450679253COL4A5c.322-24C= (n.322-24C=)
n.506-24C=
c.-3-24C= (n.-3-24C=)
c.337-24C= (n.337-24C=)
Xg.108568735C>TCA643749192COL4A5c.322-24C>T (n.322-24C>T)
n.506-24C>T
c.-3-24C>T (n.-3-24C>T)
c.337-24C>T (n.337-24C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108568738G>CCA2694439365COL4A5c.322-21G>C (n.322-21G>C)
n.506-21G>C
c.-3-21G>C (n.-3-21G>C)
c.337-21G>C (n.337-21G>C)
 gnomAD v4
Xg.108568739T>CCA2694439366COL4A5c.322-20T>C (n.322-20T>C)
n.506-20T>C
c.-3-20T>C (n.-3-20T>C)
c.337-20T>C (n.337-20T>C)
 gnomAD v4
Xg.108568740G>ACA1136176123COL4A5c.322-19G>A (n.322-19G>A)
n.506-19G>A
c.-3-19G>A (n.-3-19G>A)
c.337-19G>A (n.337-19G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108568740G>CCA2822900919COL4A5c.322-19G>C (n.322-19G>C)
n.506-19G>C
c.-3-19G>C (n.-3-19G>C)
c.337-19G>C (n.337-19G>C)
Xg.108568740G=CA2450679254COL4A5c.322-19G= (n.322-19G=)
n.506-19G=
c.-3-19G= (n.-3-19G=)
c.337-19G= (n.337-19G=)
Xg.108568741T>CCA10488431COL4A5c.322-18T>C (n.322-18T>C)
n.506-18T>C
c.-3-18T>C (n.-3-18T>C)
c.337-18T>C (n.337-18T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108568741T=CA2450679255COL4A5c.322-18T= (n.322-18T=)
n.506-18T=
c.-3-18T= (n.-3-18T=)
c.337-18T= (n.337-18T=)
Xg.108568743A=CA2450679256COL4A5c.322-16A= (n.322-16A=)
n.506-16A=
c.-3-16A= (n.-3-16A=)
c.337-16A= (n.337-16A=)
Xg.108568743A>GCA869819929COL4A5c.322-16A>G (n.322-16A>G)
n.506-16A>G
c.-3-16A>G (n.-3-16A>G)
c.337-16A>G (n.337-16A>G)
 dbSNP gnomAD v4
Xg.108568744T>CCA2694439367COL4A5c.322-15T>C (n.322-15T>C)
n.506-15T>C
c.-3-15T>C (n.-3-15T>C)
c.337-15T>C (n.337-15T>C)
 gnomAD v4
Xg.108568745G>ACA2572538167COL4A5c.322-14G>A (n.322-14G>A)
n.506-14G>A
c.-3-14G>A (n.-3-14G>A)
c.337-14G>A (n.337-14G>A)
 gnomAD v4
Xg.108568747C>ACA2579675799COL4A5c.322-12C>A (n.322-12C>A)
n.506-12C>A
c.-3-12C>A (n.-3-12C>A)
c.337-12C>A (n.337-12C>A)
 ClinVar
Xg.108568747C=CA2450679257COL4A5c.322-12C= (n.322-12C=)
n.506-12C=
c.-3-12C= (n.-3-12C=)
c.337-12C= (n.337-12C=)
Xg.108568747C>TCA10488432COL4A5c.322-12C>T (n.322-12C>T)
n.506-12C>T
c.-3-12C>T (n.-3-12C>T)
c.337-12C>T (n.337-12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108568748G>ACA10488433COL4A5c.322-11G>A (n.322-11G>A)
n.506-11G>A
c.-3-11G>A (n.-3-11G>A)
c.337-11G>A (n.337-11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108568748G>CCA2518140372COL4A5c.322-11G>C (n.322-11G>C)
n.506-11G>C
c.-3-11G>C (n.-3-11G>C)
c.337-11G>C (n.337-11G>C)
Xg.108568748G=CA2450679258COL4A5c.322-11G= (n.322-11G=)
n.506-11G=
c.-3-11G= (n.-3-11G=)
c.337-11G= (n.337-11G=)
Xg.108568748G>TCA2694439368COL4A5c.322-11G>T (n.322-11G>T)
n.506-11G>T
c.-3-11G>T (n.-3-11G>T)
c.337-11G>T (n.337-11G>T)
 gnomAD v4
Xg.108568749C=CA2450679259COL4A5c.322-10C= (n.322-10C=)
n.506-10C=
c.-3-10C= (n.-3-10C=)
c.337-10C= (n.337-10C=)
Xg.108568749C>TCA643749195COL4A5c.322-10C>T (n.322-10C>T)
n.506-10C>T
c.-3-10C>T (n.-3-10C>T)
c.337-10C>T (n.337-10C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108568750_108568754delCA2694439369COL4A5c.322-9_322-5del (n.322-9_322-5del)
n.506-9_506-5del
c.-3-9_-3-5del (n.-3-9_-3-5del)
c.337-9_337-5del (n.337-9_337-5del)
 gnomAD v4
Xg.108568752T>CCA2450679261COL4A5c.322-7T>C (n.322-7T>C)
n.506-7T>C
c.-3-7T>C (n.-3-7T>C)
c.337-7T>C (n.337-7T>C)
 dbSNP
Xg.108568752T=CA2450679260COL4A5c.322-7T= (n.322-7T=)
n.506-7T=
c.-3-7T= (n.-3-7T=)
c.337-7T= (n.337-7T=)
Xg.108568754C>TCA645608359COL4A5c.322-5C>T (n.322-5C>T)
n.506-5C>T
c.-3-5C>T (n.-3-5C>T)
c.337-5C>T (n.337-5C>T)
 COSMIC COSMIC
Xg.108568755A>CCA2580100240COL4A5c.322-4A>C (n.322-4A>C)
n.506-4A>C
c.-3-4A>C (n.-3-4A>C)
c.337-4A>C (n.337-4A>C)
 ClinVar
Xg.108568757A>CCA413918077COL4A5c.322-2A>C (n.322-2A>C)
n.506-2A>C
c.-3-2A>C (n.-3-2A>C)
c.337-2A>C (n.337-2A>C)
Xg.108568757A>GCA413918089COL4A5c.322-2A>G (n.322-2A>G)
n.506-2A>G
c.-3-2A>G (n.-3-2A>G)
c.337-2A>G (n.337-2A>G)
Xg.108568757A>TCA413918092COL4A5c.322-2A>T (n.322-2A>T)
n.506-2A>T
c.-3-2A>T (n.-3-2A>T)
c.337-2A>T (n.337-2A>T)
Xg.108568758G>ACA258225COL4A5c.322-1G>A (n.322-1G>A)
n.506-1G>A
c.-3-1G>A (n.-3-1G>A)
c.337-1G>A (n.337-1G>A)
 dbSNP
Xg.108568758G>CCA413918095COL4A5c.322-1G>C (n.322-1G>C)
n.506-1G>C
c.-3-1G>C (n.-3-1G>C)
c.337-1G>C (n.337-1G>C)
Xg.108568758G=CA2450679262COL4A5c.322-1G= (n.322-1G=)
n.506-1G=
c.-3-1G= (n.-3-1G=)
c.337-1G= (n.337-1G=)
Xg.108568758G>TCA413918096COL4A5c.322-1G>T (n.322-1G>T)
n.506-1G>T
c.-3-1G>T (n.-3-1G>T)
c.337-1G>T (n.337-1G>T)
 ClinVar dbSNP
Xg.108568759G>ACA413918097COL4A5c.322G>A (p.Gly108Arg)
n.506G>A
c.-3G>A (n.-3G>A)
c.337G>A (p.Gly113Arg)
 COSMIC COSMIC
Xg.108568759G>CCA413918098COL4A5c.322G>C (p.Gly108Arg)
n.506G>C
c.-3G>C (n.-3G>C)
c.337G>C (p.Gly113Arg)
Xg.108568759G>TCA413918101COL4A5c.322G>T (p.Gly108Ter)
n.506G>T
c.-3G>T (n.-3G>T)
c.337G>T (p.Gly113Ter)
Xg.108568760G>ACA413918108COL4A5c.323G>A (p.Gly108Glu)
n.507G>A
c.-2G>A (n.-2G>A)
c.338G>A (p.Gly113Glu)
 COSMIC COSMIC
Xg.108568760G>CCA413918102COL4A5c.323G>C (p.Gly108Ala)
n.507G>C
c.-2G>C (n.-2G>C)
c.338G>C (p.Gly113Ala)
Xg.108568760G>TCA413918106COL4A5c.323G>T (p.Gly108Val)
n.507G>T
c.-2G>T (n.-2G>T)
c.338G>T (p.Gly113Val)
Xg.108568761A>CCA517991486COL4A5c.324A>C (p.Gly108=)
n.508A>C
c.-1A>C (n.-1A>C)
c.339A>C (p.Gly113=)
Xg.108568761A>GCA517991488COL4A5c.324A>G (p.Gly108=)
n.508A>G
c.-1A>G (n.-1A>G)
c.339A>G (p.Gly113=)
Xg.108568761A>TCA517991487COL4A5c.324A>T (p.Gly108=)
n.508A>T
c.-1A>T (n.-1A>T)
c.339A>T (p.Gly113=)
Xg.108568762A>CCA413918113COL4A5c.325A>C (p.Met109Leu)
n.509A>C
c.1A>C (p.Met1Leu)
c.340A>C (p.Met114Leu)
Xg.108568762A>GCA413918115COL4A5c.325A>G (p.Met109Val)
n.509A>G
c.1A>G (p.Met1Val)
c.340A>G (p.Met114Val)
 gnomAD v4
Xg.108568762A>TCA413918116COL4A5c.325A>T (p.Met109Leu)
n.509A>T
c.1A>T (p.Met1Leu)
c.340A>T (p.Met114Leu)
Xg.108568763T>ACA413918118COL4A5c.326T>A (p.Met109Lys)
n.510T>A
c.2T>A (p.Met1Lys)
c.341T>A (p.Met114Lys)
 COSMIC COSMIC
Xg.108568763T>CCA413918120COL4A5c.326T>C (p.Met109Thr)
n.510T>C
c.2T>C (p.Met1Thr)
c.341T>C (p.Met114Thr)
Xg.108568763T>GCA413918122COL4A5c.326T>G (p.Met109Arg)
n.510T>G
c.2T>G (p.Met1Arg)
c.341T>G (p.Met114Arg)
Xg.108568764G>ACA413918123COL4A5c.327G>A (p.Met109Ile)
n.511G>A
c.3G>A (p.Met1Ile)
c.342G>A (p.Met114Ile)
Xg.108568764G>CCA413918124COL4A5c.327G>C (p.Met109Ile)
n.511G>C
c.3G>C (p.Met1Ile)
c.342G>C (p.Met114Ile)
Xg.108568764G>TCA413918127COL4A5c.327G>T (p.Met109Ile)
n.511G>T
c.3G>T (p.Met1Ile)
c.342G>T (p.Met114Ile)
Xg.108568765C>ACA413918130COL4A5c.328C>A (p.Pro110Thr)
n.512C>A
c.4C>A (p.Pro2Thr)
c.343C>A (p.Pro115Thr)
Xg.108568765C>GCA413918131COL4A5c.328C>G (p.Pro110Ala)
n.512C>G
c.4C>G (p.Pro2Ala)
c.343C>G (p.Pro115Ala)
Xg.108568765C>TCA413918133COL4A5c.328C>T (p.Pro110Ser)
n.512C>T
c.4C>T (p.Pro2Ser)
c.343C>T (p.Pro115Ser)
Xg.108568766C>ACA413918137COL4A5c.329C>A (p.Pro110Gln)
n.513C>A
c.5C>A (p.Pro2Gln)
c.344C>A (p.Pro115Gln)
Xg.108568766C>GCA413918138COL4A5c.329C>G (p.Pro110Arg)
n.513C>G
c.5C>G (p.Pro2Arg)
c.344C>G (p.Pro115Arg)
Xg.108568766C>TCA413918136COL4A5c.329C>T (p.Pro110Leu)
n.513C>T
c.5C>T (p.Pro2Leu)
c.344C>T (p.Pro115Leu)
Xg.108568767A>CCA517991489COL4A5c.330A>C (p.Pro110=)
n.514A>C
c.6A>C (p.Pro2=)
c.345A>C (p.Pro115=)
Xg.108568767A>GCA517991490COL4A5c.330A>G (p.Pro110=)
n.514A>G
c.6A>G (p.Pro2=)
c.345A>G (p.Pro115=)
 gnomAD v4
Xg.108568767A>TCA517991491COL4A5c.330A>T (p.Pro110=)
n.514A>T
c.6A>T (p.Pro2=)
c.345A>T (p.Pro115=)
Xg.108568768_108568798delCA2580100241COL4A5c.331_361del (p.Gly111PhefsTer?)
n.515_545del
c.7_37del (p.Gly3PhefsTer?)
c.346_376del (p.Gly116PhefsTer?)
 ClinVar
Xg.108568768G>ACA413918139COL4A5c.331G>A (p.Gly111Ser)
n.515G>A
c.7G>A (p.Gly3Ser)
c.346G>A (p.Gly116Ser)
 dbSNP COSMIC COSMIC
Xg.108568768G>CCA413918141COL4A5c.331G>C (p.Gly111Arg)
n.515G>C
c.7G>C (p.Gly3Arg)
c.346G>C (p.Gly116Arg)
Xg.108568768G=CA2450679263COL4A5c.331G= (p.Gly111=)
n.515G=
c.7G= (p.Gly3=)
c.346G= (p.Gly116=)
Xg.108568768G>TCA413918143COL4A5c.331G>T (p.Gly111Cys)
n.515G>T
c.7G>T (p.Gly3Cys)
c.346G>T (p.Gly116Cys)
Xg.108568769delCA2822900920COL4A5c.332del (p.Gly111AlafsTer?)
n.516del
c.8del (p.Gly3AlafsTer?)
c.347del (p.Gly116AlafsTer?)
Xg.108568768_108568769insCACA891843904COL4A5c.331_332insCA (p.Gly111AlafsTer?)
n.515_516insCA
c.7_8insCA (p.Gly3AlafsTer?)
c.346_347insCA (p.Gly116AlafsTer?)
Xg.108568769G>ACA413918145COL4A5c.332G>A (p.Gly111Asp)
n.516G>A
c.8G>A (p.Gly3Asp)
c.347G>A (p.Gly116Asp)
Xg.108568769G>CCA413918146COL4A5c.332G>C (p.Gly111Ala)
n.516G>C
c.8G>C (p.Gly3Ala)
c.347G>C (p.Gly116Ala)
Xg.108568769G>TCA413918148COL4A5c.332G>T (p.Gly111Val)
n.516G>T
c.8G>T (p.Gly3Val)
c.347G>T (p.Gly116Val)
Xg.108568770C>ACA517991492COL4A5c.333C>A (p.Gly111=)
n.517C>A
c.9C>A (p.Gly3=)
c.348C>A (p.Gly116=)
Xg.108568770C>GCA517991493COL4A5c.333C>G (p.Gly111=)
n.517C>G
c.9C>G (p.Gly3=)
c.348C>G (p.Gly116=)
Xg.108568770C>TCA517991494COL4A5c.333C>T (p.Gly111=)
n.517C>T
c.9C>T (p.Gly3=)
c.348C>T (p.Gly116=)
Xg.108568771C>ACA413918154COL4A5c.334C>A (p.His112Asn)
n.518C>A
c.10C>A (p.His4Asn)
c.349C>A (p.His117Asn)
Xg.108568771C=CA2450679264COL4A5c.334C= (p.His112=)
n.518C=
c.10C= (p.His4=)
c.349C= (p.His117=)
Xg.108568771C>GCA413918153COL4A5c.334C>G (p.His112Asp)
n.518C>G
c.10C>G (p.His4Asp)
c.349C>G (p.His117Asp)
 dbSNP gnomAD v2
Xg.108568771C>TCA413918151COL4A5c.334C>T (p.His112Tyr)
n.518C>T
c.10C>T (p.His4Tyr)
c.349C>T (p.His117Tyr)
Xg.108568772A>CCA413918157COL4A5c.335A>C (p.His112Pro)
n.519A>C
c.11A>C (p.His4Pro)
c.350A>C (p.His117Pro)
Xg.108568772A>GCA413918159COL4A5c.335A>G (p.His112Arg)
n.519A>G
c.11A>G (p.His4Arg)
c.350A>G (p.His117Arg)
Xg.108568772A>TCA413918162COL4A5c.335A>T (p.His112Leu)
n.519A>T
c.11A>T (p.His4Leu)
c.350A>T (p.His117Leu)
Xg.108568773C>ACA413918164COL4A5c.336C>A (p.His112Gln)
n.520C>A
c.12C>A (p.His4Gln)
c.351C>A (p.His117Gln)
Xg.108568773C=CA2450679265COL4A5c.336C= (p.His112=)
n.520C=
c.12C= (p.His4=)
c.351C= (p.His117=)
Xg.108568773C>GCA413918165COL4A5c.336C>G (p.His112Gln)
n.520C>G
c.12C>G (p.His4Gln)
c.351C>G (p.His117Gln)
Xg.108568773C>TCA10488434COL4A5c.336C>T (p.His112=)
n.520C>T
c.12C>T (p.His4=)
c.351C>T (p.His117=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108568774G>ACA10488435COL4A5c.337G>A (p.Asp113Asn)
n.521G>A
c.13G>A (p.Asp5Asn)
c.352G>A (p.Asp118Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108568774G>CCA413918166COL4A5c.337G>C (p.Asp113His)
n.521G>C
c.13G>C (p.Asp5His)
c.352G>C (p.Asp118His)
Xg.108568774G=CA2450679266COL4A5c.337G= (p.Asp113=)
n.521G=
c.13G= (p.Asp5=)
c.352G= (p.Asp118=)
Xg.108568774G>TCA413918169COL4A5c.337G>T (p.Asp113Tyr)
n.521G>T
c.13G>T (p.Asp5Tyr)
c.352G>T (p.Asp118Tyr)
 gnomAD v4
Xg.108568775A=CA2450679267COL4A5c.338A= (p.Asp113=)
n.522A=
c.14A= (p.Asp5=)
c.353A= (p.Asp118=)
Xg.108568775A>CCA413918172COL4A5c.338A>C (p.Asp113Ala)
n.522A>C
c.14A>C (p.Asp5Ala)
c.353A>C (p.Asp118Ala)
Xg.108568775A>GCA413918174COL4A5c.338A>G (p.Asp113Gly)
n.522A>G
c.14A>G (p.Asp5Gly)
c.353A>G (p.Asp118Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.108568775A>TCA413918176COL4A5c.338A>T (p.Asp113Val)
n.522A>T
c.14A>T (p.Asp5Val)
c.353A>T (p.Asp118Val)
Xg.108568776T>ACA413918178COL4A5c.339T>A (p.Asp113Glu)
n.523T>A
c.15T>A (p.Asp5Glu)
c.354T>A (p.Asp118Glu)
Xg.108568776T>CCA517991495COL4A5c.339T>C (p.Asp113=)
n.523T>C
c.15T>C (p.Asp5=)
c.354T>C (p.Asp118=)
Xg.108568776T>GCA413918181COL4A5c.339T>G (p.Asp113Glu)
n.523T>G
c.15T>G (p.Asp5Glu)
c.354T>G (p.Asp118Glu)
Xg.108568777G>ACA413918198COL4A5c.340G>A (p.Gly114Arg)
n.524G>A
c.16G>A (p.Gly6Arg)
c.355G>A (p.Gly119Arg)
 ClinVar
Xg.108568777G>CCA413918196COL4A5c.340G>C (p.Gly114Arg)
n.524G>C
c.16G>C (p.Gly6Arg)
c.355G>C (p.Gly119Arg)
Xg.108568777G>TCA413918193COL4A5c.340G>T (p.Gly114Trp)
n.524G>T
c.16G>T (p.Gly6Trp)
c.355G>T (p.Gly119Trp)
Xg.108568780delCA645608360COL4A5c.343del (p.Ala115ProfsTer?)
n.527del
c.19del (p.Ala7ProfsTer?)
c.358del (p.Ala120ProfsTer?)
 COSMIC COSMIC
Xg.108568778G>ACA413918204COL4A5c.341G>A (p.Gly114Glu)
n.525G>A
c.17G>A (p.Gly6Glu)
c.356G>A (p.Gly119Glu)
 COSMIC
Xg.108568778G>CCA10488436COL4A5c.341G>C (p.Gly114Ala)
n.525G>C
c.17G>C (p.Gly6Ala)
c.356G>C (p.Gly119Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108568778G=CA2450679268COL4A5c.341G= (p.Gly114=)
n.525G=
c.17G= (p.Gly6=)
c.356G= (p.Gly119=)
Xg.108568778G>TCA413918210COL4A5c.341G>T (p.Gly114Val)
n.525G>T
c.17G>T (p.Gly6Val)
c.356G>T (p.Gly119Val)
Xg.108568779G>ACA517991496COL4A5c.342G>A (p.Gly114=)
n.526G>A
c.18G>A (p.Gly6=)
c.357G>A (p.Gly119=)
 ClinVar gnomAD v4
Xg.108568779G>CCA517991497COL4A5c.342G>C (p.Gly114=)
n.526G>C
c.18G>C (p.Gly6=)
c.357G>C (p.Gly119=)
Xg.108568779G>TCA517991498COL4A5c.342G>T (p.Gly114=)
n.526G>T
c.18G>T (p.Gly6=)
c.357G>T (p.Gly119=)
 gnomAD v4
Xg.108568780G>ACA413918212COL4A5c.343G>A (p.Ala115Thr)
n.527G>A
c.19G>A (p.Ala7Thr)
c.358G>A (p.Ala120Thr)
 gnomAD v4 COSMIC COSMIC
Xg.108568780G>CCA413918214COL4A5c.343G>C (p.Ala115Pro)
n.527G>C
c.19G>C (p.Ala7Pro)
c.358G>C (p.Ala120Pro)
Xg.108568780G>TCA413918216COL4A5c.343G>T (p.Ala115Ser)
n.527G>T
c.19G>T (p.Ala7Ser)
c.358G>T (p.Ala120Ser)
 gnomAD v4
Xg.108568781C>ACA413918218COL4A5c.344C>A (p.Ala115Asp)
n.528C>A
c.20C>A (p.Ala7Asp)
c.359C>A (p.Ala120Asp)
Xg.108568781C=CA2450679269COL4A5c.344C= (p.Ala115=)
n.528C=
c.20C= (p.Ala7=)
c.359C= (p.Ala120=)
Xg.108568781C>GCA413918223COL4A5c.344C>G (p.Ala115Gly)
n.528C>G
c.20C>G (p.Ala7Gly)
c.359C>G (p.Ala120Gly)
Xg.108568781C>TCA413918220COL4A5c.344C>T (p.Ala115Val)
n.528C>T
c.20C>T (p.Ala7Val)
c.359C>T (p.Ala120Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108568784delCA2573055060COL4A5c.347del (p.Pro116GlnfsTer?)
n.531del
c.23del (p.Pro8GlnfsTer?)
c.362del (p.Pro121GlnfsTer?)
 ClinVar dbSNP
Xg.108568782C>ACA517991499COL4A5c.345C>A (p.Ala115=)
n.529C>A
c.21C>A (p.Ala7=)
c.360C>A (p.Ala120=)
Xg.108568782C=CA2450679270COL4A5c.345C= (p.Ala115=)
n.529C=
c.21C= (p.Ala7=)
c.360C= (p.Ala120=)
Xg.108568782C>GCA517991500COL4A5c.345C>G (p.Ala115=)
n.529C>G
c.21C>G (p.Ala7=)
c.360C>G (p.Ala120=)
Xg.108568782C>TCA334178782COL4A5c.345C>T (p.Ala115=)
n.529C>T
c.21C>T (p.Ala7=)
c.360C>T (p.Ala120=)
 dbSNP
Xg.108568783C>ACA413918228COL4A5c.346C>A (p.Pro116Thr)
n.530C>A
c.22C>A (p.Pro8Thr)
c.361C>A (p.Pro121Thr)
Xg.108568783C>GCA413918229COL4A5c.346C>G (p.Pro116Ala)
n.530C>G
c.22C>G (p.Pro8Ala)
c.361C>G (p.Pro121Ala)
Xg.108568783C>TCA413918231COL4A5c.346C>T (p.Pro116Ser)
n.530C>T
c.22C>T (p.Pro8Ser)
c.361C>T (p.Pro121Ser)
 gnomAD v4
Xg.108568783_108568784insAAGAATTTTGGGGGTGATCA2822900921COL4A5c.346_347insAAGAATTTTGGGGGTGAT (p.Pro116GlnfsTer6)
n.530_531insAAGAATTTTGGGGGTGAT
c.22_23insAAGAATTTTGGGGGTGAT (p.Pro8GlnfsTer6)
c.361_362insAAGAATTTTGGGGGTGAT (p.Pro121GlnfsTer6)
Xg.108568784C>ACA413918235COL4A5c.347C>A (p.Pro116Gln)
n.531C>A
c.23C>A (p.Pro8Gln)
c.362C>A (p.Pro121Gln)
Xg.108568784C>GCA413918237COL4A5c.347C>G (p.Pro116Arg)
n.531C>G
c.23C>G (p.Pro8Arg)
c.362C>G (p.Pro121Arg)
Xg.108568784C>TCA413918245COL4A5c.347C>T (p.Pro116Leu)
n.531C>T
c.23C>T (p.Pro8Leu)
c.362C>T (p.Pro121Leu)
Xg.108568784_108568793delinsCAGGACCTCACA2450679271COL4A5c.347_356delinsCAGGACCTCA (p.Pro116=)
n.531_540delinsCAGGACCTCA
c.23_32delinsCAGGACCTCA (p.Pro8=)
c.362_371delinsCAGGACCTCA (p.Pro121=)
Xg.108568785A=CA2450679272COL4A5c.348A= (p.Pro116=)
n.532A=
c.24A= (p.Pro8=)
c.363A= (p.Pro121=)
Xg.108568785A>CCA517991501COL4A5c.348A>C (p.Pro116=)
n.532A>C
c.24A>C (p.Pro8=)
c.363A>C (p.Pro121=)
Xg.108568785A>GCA10488437COL4A5c.348A>G (p.Pro116=)
n.532A>G
c.24A>G (p.Pro8=)
c.363A>G (p.Pro121=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108568785A>TCA517991502COL4A5c.348A>T (p.Pro116=)
n.532A>T
c.24A>T (p.Pro8=)
c.363A>T (p.Pro121=)
Xg.108568788_108568796delCA258226COL4A5c.351_359del (p.Pro118_Gly120del)
n.535_543del
c.27_35del (p.Pro10_Gly12del)
c.366_374del (p.Pro123_Gly125del)
 dbSNP
Xg.108568785_108568786insTCCGGCA2695235593COL4A5c.348_349insTCCGG (p.Gly117SerfsTer?)
n.532_533insTCCGG
c.24_25insTCCGG (p.Gly9SerfsTer?)
c.363_364insTCCGG (p.Gly122SerfsTer?)
Xg.108568785_108568786insCTATTAATGTCTTCAGTCA2822900922COL4A5c.348_349insCTATTAATGTCTTCAGT (p.Gly117LeufsTer?)
n.532_533insCTATTAATGTCTTCAGT
c.24_25insCTATTAATGTCTTCAGT (p.Gly9LeufsTer?)
c.363_364insCTATTAATGTCTTCAGT (p.Gly122LeufsTer?)
Xg.108568786G>ACA413918255COL4A5c.349G>A (p.Gly117Arg)
n.533G>A
c.25G>A (p.Gly9Arg)
c.364G>A (p.Gly122Arg)
Xg.108568786G>CCA413918267COL4A5c.349G>C (p.Gly117Arg)
n.533G>C
c.25G>C (p.Gly9Arg)
c.364G>C (p.Gly122Arg)
Xg.108568786G>TCA413918264COL4A5c.349G>T (p.Gly117Ter)
n.533G>T
c.25G>T (p.Gly9Ter)
c.364G>T (p.Gly122Ter)
Xg.108568786_108568797delinsTTGCACA2695235594COL4A5c.349_360delinsTTGCA (p.Gly117LeufsTer?)
n.533_544delinsTTGCA
c.25_36delinsTTGCA (p.Gly9LeufsTer?)
c.364_375delinsTTGCA (p.Gly122LeufsTer?)
Xg.108568787G>ACA413918273COL4A5c.350G>A (p.Gly117Glu)
n.534G>A
c.26G>A (p.Gly9Glu)
c.365G>A (p.Gly122Glu)
Xg.108568787G>CCA413918276COL4A5c.350G>C (p.Gly117Ala)
n.534G>C
c.26G>C (p.Gly9Ala)
c.365G>C (p.Gly122Ala)
Xg.108568787G>TCA413918282COL4A5c.350G>T (p.Gly117Val)
n.534G>T
c.26G>T (p.Gly9Val)
c.365G>T (p.Gly122Val)
Xg.108568787_108568788insGTCA2695235595COL4A5c.350_351insGT (p.Pro118TyrfsTer?)
n.534_535insGT
c.26_27insGT (p.Pro10TyrfsTer?)
c.365_366insGT (p.Pro123TyrfsTer?)
Xg.108568788A>CCA517991503COL4A5c.351A>C (p.Gly117=)
n.535A>C
c.27A>C (p.Gly9=)
c.366A>C (p.Gly122=)
Xg.108568788A>GCA517991504COL4A5c.351A>G (p.Gly117=)
n.535A>G
c.27A>G (p.Gly9=)
c.366A>G (p.Gly122=)
Xg.108568788A>TCA517991505COL4A5c.351A>T (p.Gly117=)
n.535A>T
c.27A>T (p.Gly9=)
c.366A>T (p.Gly122=)
Xg.108568789C>ACA413918286COL4A5c.352C>A (p.Pro118Thr)
n.536C>A
c.28C>A (p.Pro10Thr)
c.367C>A (p.Pro123Thr)
 gnomAD v4
Xg.108568789C>GCA413918311COL4A5c.352C>G (p.Pro118Ala)
n.536C>G
c.28C>G (p.Pro10Ala)
c.367C>G (p.Pro123Ala)
Xg.108568789C>TCA413918289COL4A5c.352C>T (p.Pro118Ser)
n.536C>T
c.28C>T (p.Pro10Ser)
c.367C>T (p.Pro123Ser)
 gnomAD v4
Xg.108568790C>ACA413918316COL4A5c.353C>A (p.Pro118His)
n.537C>A
c.29C>A (p.Pro10His)
c.368C>A (p.Pro123His)
Xg.108568790C>GCA413918318COL4A5c.353C>G (p.Pro118Arg)
n.537C>G
c.29C>G (p.Pro10Arg)
c.368C>G (p.Pro123Arg)
Xg.108568790C>TCA413918323COL4A5c.353C>T (p.Pro118Leu)
n.537C>T
c.29C>T (p.Pro10Leu)
c.368C>T (p.Pro123Leu)
Xg.108568791T>ACA517991506COL4A5c.354T>A (p.Pro118=)
n.538T>A
c.30T>A (p.Pro10=)
c.369T>A (p.Pro123=)
Xg.108568791T>CCA517991507COL4A5c.354T>C (p.Pro118=)
n.538T>C
c.30T>C (p.Pro10=)
c.369T>C (p.Pro123=)
Xg.108568791T>GCA517991508COL4A5c.354T>G (p.Pro118=)
n.538T>G
c.30T>G (p.Pro10=)
c.369T>G (p.Pro123=)
Xg.108568792C>ACA413918326COL4A5c.355C>A (p.Gln119Lys)
n.539C>A
c.31C>A (p.Gln11Lys)
c.370C>A (p.Gln124Lys)
Xg.108568792C=CA2450679273COL4A5c.355C= (p.Gln119=)
n.539C=
c.31C= (p.Gln11=)
c.370C= (p.Gln124=)
Xg.108568792C>GCA413918331COL4A5c.355C>G (p.Gln119Glu)
n.539C>G
c.31C>G (p.Gln11Glu)
c.370C>G (p.Gln124Glu)
 dbSNP
Xg.108568792C>TCA413918336COL4A5c.355C>T (p.Gln119Ter)
n.539C>T
c.31C>T (p.Gln11Ter)
c.370C>T (p.Gln124Ter)
Xg.108568793A>CCA413918340COL4A5c.356A>C (p.Gln119Pro)
n.540A>C
c.32A>C (p.Gln11Pro)
c.371A>C (p.Gln124Pro)
Xg.108568793A>GCA413918345COL4A5c.356A>G (p.Gln119Arg)
n.540A>G
c.32A>G (p.Gln11Arg)
c.371A>G (p.Gln124Arg)
Xg.108568793A>TCA413918354COL4A5c.356A>T (p.Gln119Leu)
n.540A>T
c.32A>T (p.Gln11Leu)
c.371A>T (p.Gln124Leu)
Xg.108568794A>CCA413918359COL4A5c.357A>C (p.Gln119His)
n.541A>C
c.33A>C (p.Gln11His)
c.372A>C (p.Gln124His)
Xg.108568794A>GCA517991509COL4A5c.357A>G (p.Gln119=)
n.541A>G
c.33A>G (p.Gln11=)
c.372A>G (p.Gln124=)
Xg.108568794A>TCA413918361COL4A5c.357A>T (p.Gln119His)
n.541A>T
c.33A>T (p.Gln11His)
c.372A>T (p.Gln124His)
Xg.108568795G>ACA413918363COL4A5c.358G>A (p.Gly120Ser)
n.542G>A
c.34G>A (p.Gly12Ser)
c.373G>A (p.Gly125Ser)
Xg.108568795G>CCA413918366COL4A5c.358G>C (p.Gly120Arg)
n.542G>C
c.34G>C (p.Gly12Arg)
c.373G>C (p.Gly125Arg)
Xg.108568795G>TCA413918365COL4A5c.358G>T (p.Gly120Cys)
n.542G>T
c.34G>T (p.Gly12Cys)
c.373G>T (p.Gly125Cys)
Xg.108568795_108568800delinsGGTATTCA2450679274COL4A5c.358_363delinsGGTATT (p.Gly120=)
n.542_547delinsGGTATT
c.34_39delinsGGTATT (p.Gly12=)
c.373_378delinsGGTATT (p.Gly125=)
Xg.108568795_108568804delinsTGGAACCTGGTCA2739290558COL4A5c.358_367delinsTGGAACCTGGT (p.Gly120TrpfsTer?)
n.542_551delinsTGGAACCTGGT
c.34_43delinsTGGAACCTGGT (p.Gly12TrpfsTer?)
c.373_382delinsTGGAACCTGGT (p.Gly125TrpfsTer?)
Xg.108568796G>ACA413918370COL4A5c.359G>A (p.Gly120Asp)
n.543G>A
c.35G>A (p.Gly12Asp)
c.374G>A (p.Gly125Asp)
 ClinVar
Xg.108568796G>CCA413918385COL4A5c.359G>C (p.Gly120Ala)
n.543G>C
c.35G>C (p.Gly12Ala)
c.374G>C (p.Gly125Ala)
Xg.108568796G>TCA413918377COL4A5c.359G>T (p.Gly120Val)
n.543G>T
c.35G>T (p.Gly12Val)
c.374G>T (p.Gly125Val)
Xg.108568796_108568800delinsATACCA891843905COL4A5c.359_363delinsATAC (p.Gly120AspfsTer?)
n.543_547delinsATAC
c.35_39delinsATAC (p.Gly12AspfsTer?)
c.374_378delinsATAC (p.Gly125AspfsTer?)
Xg.108568797T>ACA517991510COL4A5c.360T>A (p.Gly120=)
n.544T>A
c.36T>A (p.Gly12=)
c.375T>A (p.Gly125=)
Xg.108568797T>CCA517991511COL4A5c.360T>C (p.Gly120=)
n.544T>C
c.36T>C (p.Gly12=)
c.375T>C (p.Gly125=)
Xg.108568797T>GCA517991512COL4A5c.360T>G (p.Gly120=)
n.544T>G
c.36T>G (p.Gly12=)
c.375T>G (p.Gly125=)
Xg.108568798A=CA2450679275COL4A5c.361A= (p.Ile121=)
n.545A=
c.37A= (p.Ile13=)
c.376A= (p.Ile126=)
Xg.108568798A>CCA413918388COL4A5c.361A>C (p.Ile121Leu)
n.545A>C
c.37A>C (p.Ile13Leu)
c.376A>C (p.Ile126Leu)
Xg.108568798A>GCA10488438COL4A5c.361A>G (p.Ile121Val)
n.545A>G
c.37A>G (p.Ile13Val)
c.376A>G (p.Ile126Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108568798A>TCA413918397COL4A5c.361A>T (p.Ile121Phe)
n.545A>T
c.37A>T (p.Ile13Phe)
c.376A>T (p.Ile126Phe)
Xg.108568799T>ACA413918405COL4A5c.362T>A (p.Ile121Asn)
n.546T>A
c.38T>A (p.Ile13Asn)
c.377T>A (p.Ile126Asn)
Xg.108568799T>CCA413918408COL4A5c.362T>C (p.Ile121Thr)
n.546T>C
c.38T>C (p.Ile13Thr)
c.377T>C (p.Ile126Thr)
 gnomAD v4
Xg.108568799T>GCA413918412COL4A5c.362T>G (p.Ile121Ser)
n.546T>G
c.38T>G (p.Ile13Ser)
c.377T>G (p.Ile126Ser)
Xg.108568800T>ACA517991513COL4A5c.363T>A (p.Ile121=)
n.547T>A
c.39T>A (p.Ile13=)
c.378T>A (p.Ile126=)
Xg.108568800T>CCA517991514COL4A5c.363T>C (p.Ile121=)
n.547T>C
c.39T>C (p.Ile13=)
c.378T>C (p.Ile126=)
Xg.108568800T>GCA413918413COL4A5c.363T>G (p.Ile121Met)
n.547T>G
c.39T>G (p.Ile13Met)
c.378T>G (p.Ile126Met)
Xg.108568801C>ACA413918414COL4A5c.364C>A (p.Pro122Thr)
n.548C>A
c.40C>A (p.Pro14Thr)
c.379C>A (p.Pro127Thr)
Xg.108568801C>GCA413918415COL4A5c.364C>G (p.Pro122Ala)
n.548C>G
c.40C>G (p.Pro14Ala)
c.379C>G (p.Pro127Ala)
 ClinVar
Xg.108568801C>TCA413918417COL4A5c.364C>T (p.Pro122Ser)
n.548C>T
c.40C>T (p.Pro14Ser)
c.379C>T (p.Pro127Ser)
Xg.108568802C>ACA413918419COL4A5c.365C>A (p.Pro122His)
n.549C>A
c.41C>A (p.Pro14His)
c.380C>A (p.Pro127His)
Xg.108568802C>GCA413918442COL4A5c.365C>G (p.Pro122Arg)
n.549C>G
c.41C>G (p.Pro14Arg)
c.380C>G (p.Pro127Arg)
Xg.108568802C>TCA413918445COL4A5c.365C>T (p.Pro122Leu)
n.549C>T
c.41C>T (p.Pro14Leu)
c.380C>T (p.Pro127Leu)
Xg.108568803C>ACA517991516COL4A5c.366C>A (p.Pro122=)
n.550C>A
c.42C>A (p.Pro14=)
c.381C>A (p.Pro127=)
Xg.108568803C=CA2450679277COL4A5c.366C= (p.Pro122=)
n.550C=
c.42C= (p.Pro14=)
c.381C= (p.Pro127=)
Xg.108568803C>GCA517991515COL4A5c.366C>G (p.Pro122=)
n.550C>G
c.42C>G (p.Pro14=)
c.381C>G (p.Pro127=)
Xg.108568803C>TCA10488439COL4A5c.366C>T (p.Pro122=)
n.550C>T
c.42C>T (p.Pro14=)
c.381C>T (p.Pro127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108568803_108568804delinsCGCA2450679276COL4A5c.366_367delinsCG (p.Pro122=)
n.550_551delinsCG
c.42_43delinsCG (p.Pro14=)
c.381_382delinsCG (p.Pro127=)
Xg.108568804G>ACA413918484COL4A5c.367G>A (p.Gly123Arg)
n.551G>A
c.43G>A (p.Gly15Arg)
c.382G>A (p.Gly128Arg)
 ClinVar dbSNP COSMIC COSMIC
Xg.108568804G>CCA413918485COL4A5c.367G>C (p.Gly123Arg)
n.551G>C
c.43G>C (p.Gly15Arg)
c.382G>C (p.Gly128Arg)
 ClinVar dbSNP
Xg.108568804G=CA2450679278COL4A5c.367G= (p.Gly123=)
n.551G=
c.43G= (p.Gly15=)
c.382G= (p.Gly128=)
Xg.108568804G>TCA413918487COL4A5c.367G>T (p.Gly123Ter)
n.551G>T
c.43G>T (p.Gly15Ter)
c.382G>T (p.Gly128Ter)
 ClinVar
Xg.108568805delCA258229COL4A5c.368del (p.Gly123AspfsTer?)
n.552del
c.44del (p.Gly15AspfsTer?)
c.383del (p.Gly128AspfsTer?)
 dbSNP
Xg.108568805G>ACA413918504COL4A5c.368G>A (p.Gly123Glu)
n.552G>A
c.44G>A (p.Gly15Glu)
c.383G>A (p.Gly128Glu)
 dbSNP
Xg.108568805G>CCA413918511COL4A5c.368G>C (p.Gly123Ala)
n.552G>C
c.44G>C (p.Gly15Ala)
c.383G>C (p.Gly128Ala)
Xg.108568805G=CA2450679279COL4A5c.368G= (p.Gly123=)
n.552G=
c.44G= (p.Gly15=)
c.383G= (p.Gly128=)
Xg.108568805G>TCA413918517COL4A5c.368G>T (p.Gly123Val)
n.552G>T
c.44G>T (p.Gly15Val)
c.383G>T (p.Gly128Val)
Xg.108568806A>CCA517991517COL4A5c.369A>C (p.Gly123=)
n.553A>C
c.45A>C (p.Gly15=)
c.384A>C (p.Gly128=)
Xg.108568806A>GCA517991518COL4A5c.369A>G (p.Gly123=)
n.553A>G
c.45A>G (p.Gly15=)
c.384A>G (p.Gly128=)
Xg.108568806A>TCA517991519COL4A5c.369A>T (p.Gly123=)
n.553A>T
c.45A>T (p.Gly15=)
c.384A>T (p.Gly128=)
 gnomAD v4
Xg.108568807T>ACA413918534COL4A5c.370T>A (p.Cys124Ser)
n.554T>A
c.46T>A (p.Cys16Ser)
c.385T>A (p.Cys129Ser)
Xg.108568807T>CCA413918535COL4A5c.370T>C (p.Cys124Arg)
n.554T>C
c.46T>C (p.Cys16Arg)
c.385T>C (p.Cys129Arg)
Xg.108568807T>GCA413918536COL4A5c.370T>G (p.Cys124Gly)
n.554T>G
c.46T>G (p.Cys16Gly)
c.385T>G (p.Cys129Gly)
Xg.108568808G>ACA413918537COL4A5c.371G>A (p.Cys124Tyr)
n.555G>A
c.47G>A (p.Cys16Tyr)
c.386G>A (p.Cys129Tyr)
Xg.108568808G>CCA413918538COL4A5c.371G>C (p.Cys124Ser)
n.555G>C
c.47G>C (p.Cys16Ser)
c.386G>C (p.Cys129Ser)
Xg.108568808G>TCA413918539COL4A5c.371G>T (p.Cys124Phe)
n.555G>T
c.47G>T (p.Cys16Phe)
c.386G>T (p.Cys129Phe)
Xg.108568809C>ACA413918540COL4A5c.372C>A (p.Cys124Ter)
n.556C>A
c.48C>A (p.Cys16Ter)
c.387C>A (p.Cys129Ter)
Xg.108568809C>GCA413918541COL4A5c.372C>G (p.Cys124Trp)
n.556C>G
c.48C>G (p.Cys16Trp)
c.387C>G (p.Cys129Trp)
Xg.108568809C>TCA517991520COL4A5c.372C>T (p.Cys124=)
n.556C>T
c.48C>T (p.Cys16=)
c.387C>T (p.Cys129=)
Xg.108568810A>CCA413918545COL4A5c.373A>C (p.Asn125His)
n.557A>C
c.49A>C (p.Asn17His)
c.388A>C (p.Asn130His)
 gnomAD v4
Xg.108568810A>GCA413918549COL4A5c.373A>G (p.Asn125Asp)
n.557A>G
c.49A>G (p.Asn17Asp)
c.388A>G (p.Asn130Asp)
Xg.108568810A>TCA413918557COL4A5c.373A>T (p.Asn125Tyr)
n.557A>T
c.49A>T (p.Asn17Tyr)
c.388A>T (p.Asn130Tyr)

Number of alleles fetched