Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108575880dupCA10488500COL4A5c.547-30dup (n.547-30dup)
c.223-30dup (n.223-30dup)
c.562-30dup (n.562-30dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575879_108575880dupCA2694411410COL4A5c.547-31_547-30dup (n.547-31_547-30dup)
c.223-31_223-30dup (n.223-31_223-30dup)
c.562-31_562-30dup (n.562-31_562-30dup)
 gnomAD v4
Xg.108575880delCA10488499COL4A5c.547-30del (n.547-30del)
c.223-30del (n.223-30del)
c.562-30del (n.562-30del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.108575878T>CCA10488501COL4A5c.547-32T>C (n.547-32T>C)
c.223-32T>C (n.223-32T>C)
c.562-32T>C (n.562-32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575878T=CA2450681454COL4A5c.547-32T= (n.547-32T=)
c.223-32T= (n.223-32T=)
c.562-32T= (n.562-32T=)
Xg.108575879T>GCA2694411414COL4A5c.547-31T>G (n.547-31T>G)
c.223-31T>G (n.223-31T>G)
c.562-31T>G (n.562-31T>G)
 gnomAD v4
Xg.108575880T>ACA2694411416COL4A5c.547-30T>A (n.547-30T>A)
c.223-30T>A (n.223-30T>A)
c.562-30T>A (n.562-30T>A)
 gnomAD v4
Xg.108575880T>CCA2694411417COL4A5c.547-30T>C (n.547-30T>C)
c.223-30T>C (n.223-30T>C)
c.562-30T>C (n.562-30T>C)
 gnomAD v4
Xg.108575880_108575882delinsTCACA2450681455COL4A5c.547-30_547-28delinsTCA (n.547-30_547-28delinsTCA)
c.223-30_223-28delinsTCA (n.223-30_223-28delinsTCA)
c.562-30_562-28delinsTCA (n.562-30_562-28delinsTCA)
Xg.108575880_108575885delinsTCATCACA2450681456COL4A5c.547-30_547-25delinsTCATCA (n.547-30_547-25delinsTCATCA)
c.223-30_223-25delinsTCATCA (n.223-30_223-25delinsTCATCA)
c.562-30_562-25delinsTCATCA (n.562-30_562-25delinsTCATCA)
Xg.108575881delCA2694411420COL4A5c.547-29del (n.547-29del)
c.223-29del (n.223-29del)
c.562-29del (n.562-29del)
 gnomAD v4
Xg.108575881C>ACA2579675900COL4A5c.547-29C>A (n.547-29C>A)
c.223-29C>A (n.223-29C>A)
c.562-29C>A (n.562-29C>A)
 gnomAD v4
Xg.108575881C=CA2450681457COL4A5c.547-29C= (n.547-29C=)
c.223-29C= (n.223-29C=)
c.562-29C= (n.562-29C=)
Xg.108575881C>TCA10488504COL4A5c.547-29C>T (n.547-29C>T)
c.223-29C>T (n.223-29C>T)
c.562-29C>T (n.562-29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108575881_108575882delCA10488503COL4A5c.547-29_547-28del (n.547-29_547-28del)
c.223-29_223-28del (n.223-29_223-28del)
c.562-29_562-28del (n.562-29_562-28del)
 dbSNP ExAC
Xg.108575881_108575885delCA10488502COL4A5c.547-29_547-25del (n.547-29_547-25del)
c.223-29_223-25del (n.223-29_223-25del)
c.562-29_562-25del (n.562-29_562-25del)
 dbSNP ExAC gnomAD v2
Xg.108575882A=CA2450681458COL4A5c.547-28A= (n.547-28A=)
c.223-28A= (n.223-28A=)
c.562-28A= (n.562-28A=)
Xg.108575882A>GCA2694411423COL4A5c.547-28A>G (n.547-28A>G)
c.223-28A>G (n.223-28A>G)
c.562-28A>G (n.562-28A>G)
 gnomAD v4
Xg.108575882A>TCA10488505COL4A5c.547-28A>T (n.547-28A>T)
c.223-28A>T (n.223-28A>T)
c.562-28A>T (n.562-28A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108575882_108575885delCA2538526686COL4A5c.547-28_547-25del (n.547-28_547-25del)
c.223-28_223-25del (n.223-28_223-25del)
c.562-28_562-25del (n.562-28_562-25del)
Xg.108575883T>CCA2579675901COL4A5c.547-27T>C (n.547-27T>C)
c.223-27T>C (n.223-27T>C)
c.562-27T>C (n.562-27T>C)
 gnomAD v4
Xg.108575883_108575885delinsTCACA2450681459COL4A5c.547-27_547-25delinsTCA (n.547-27_547-25delinsTCA)
c.223-27_223-25delinsTCA (n.223-27_223-25delinsTCA)
c.562-27_562-25delinsTCA (n.562-27_562-25delinsTCA)
Xg.108575884C>ACA2694411429COL4A5c.547-26C>A (n.547-26C>A)
c.223-26C>A (n.223-26C>A)
c.562-26C>A (n.562-26C>A)
 gnomAD v4
Xg.108575884C=CA2450681460COL4A5c.547-26C= (n.547-26C=)
c.223-26C= (n.223-26C=)
c.562-26C= (n.562-26C=)
Xg.108575884C>TCA10488507COL4A5c.547-26C>T (n.547-26C>T)
c.223-26C>T (n.223-26C>T)
c.562-26C>T (n.562-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108575884_108575885delCA10488506COL4A5c.547-26_547-25del (n.547-26_547-25del)
c.223-26_223-25del (n.223-26_223-25del)
c.562-26_562-25del (n.562-26_562-25del)
 dbSNP ExAC
Xg.108575885A=CA2450681461COL4A5c.547-25A= (n.547-25A=)
c.223-25A= (n.223-25A=)
c.562-25A= (n.562-25A=)
Xg.108575885A>GCA2694411432COL4A5c.547-25A>G (n.547-25A>G)
c.223-25A>G (n.223-25A>G)
c.562-25A>G (n.562-25A>G)
 gnomAD v4
Xg.108575885A>TCA10488508COL4A5c.547-25A>T (n.547-25A>T)
c.223-25A>T (n.223-25A>T)
c.562-25A>T (n.562-25A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108575889dupCA2694411435COL4A5c.547-21dup (n.547-21dup)
c.223-21dup (n.223-21dup)
c.562-21dup (n.562-21dup)
 gnomAD v4
Xg.108575889delCA2694411436COL4A5c.547-21del (n.547-21del)
c.223-21del (n.223-21del)
c.562-21del (n.562-21del)
 gnomAD v4
Xg.108575887T>CCA1136177981COL4A5c.547-23T>C (n.547-23T>C)
c.223-23T>C (n.223-23T>C)
c.562-23T>C (n.562-23T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108575887T=CA2450681462COL4A5c.547-23T= (n.547-23T=)
c.223-23T= (n.223-23T=)
c.562-23T= (n.562-23T=)
Xg.108575888T>CCA2694411437COL4A5c.547-22T>C (n.547-22T>C)
c.223-22T>C (n.223-22T>C)
c.562-22T>C (n.562-22T>C)
 gnomAD v4
Xg.108575888T>GCA2450681464COL4A5c.547-22T>G (n.547-22T>G)
c.223-22T>G (n.223-22T>G)
c.562-22T>G (n.562-22T>G)
 dbSNP
Xg.108575888T=CA2450681463COL4A5c.547-22T= (n.547-22T=)
c.223-22T= (n.223-22T=)
c.562-22T= (n.562-22T=)
Xg.108575889_108575890delinsTCCA2450681465COL4A5c.547-21_547-20delinsTC (n.547-21_547-20delinsTC)
c.223-21_223-20delinsTC (n.223-21_223-20delinsTC)
c.562-21_562-20delinsTC (n.562-21_562-20delinsTC)
Xg.108575890delCA2450681466COL4A5c.547-20del (n.547-20del)
c.223-20del (n.223-20del)
c.562-20del (n.562-20del)
 dbSNP
Xg.108575890C>ACA2694411438COL4A5c.547-20C>A (n.547-20C>A)
c.223-20C>A (n.223-20C>A)
c.562-20C>A (n.562-20C>A)
 gnomAD v4
Xg.108575890C=CA2450681467COL4A5c.547-20C= (n.547-20C=)
c.223-20C= (n.223-20C=)
c.562-20C= (n.562-20C=)
Xg.108575890C>GCA2450681468COL4A5c.547-20C>G (n.547-20C>G)
c.223-20C>G (n.223-20C>G)
c.562-20C>G (n.562-20C>G)
 dbSNP
Xg.108575890C>TCA10488509COL4A5c.547-20C>T (n.547-20C>T)
c.223-20C>T (n.223-20C>T)
c.562-20C>T (n.562-20C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108575891T>CCA2694411439COL4A5c.547-19T>C (n.547-19T>C)
c.223-19T>C (n.223-19T>C)
c.562-19T>C (n.562-19T>C)
 gnomAD v4
Xg.108575892T>CCA2694411441COL4A5c.547-18T>C (n.547-18T>C)
c.223-18T>C (n.223-18T>C)
c.562-18T>C (n.562-18T>C)
 gnomAD v4
Xg.108575892T>GCA2694411442COL4A5c.547-18T>G (n.547-18T>G)
c.223-18T>G (n.223-18T>G)
c.562-18T>G (n.562-18T>G)
 gnomAD v4
Xg.108575893T>CCA2694411443COL4A5c.547-17T>C (n.547-17T>C)
c.223-17T>C (n.223-17T>C)
c.562-17T>C (n.562-17T>C)
 gnomAD v4
Xg.108575894A>GCA2694411444COL4A5c.547-16A>G (n.547-16A>G)
c.223-16A>G (n.223-16A>G)
c.562-16A>G (n.562-16A>G)
 gnomAD v4
Xg.108575894A>TCA2579675902COL4A5c.547-16A>T (n.547-16A>T)
c.223-16A>T (n.223-16A>T)
c.562-16A>T (n.562-16A>T)
 gnomAD v4
Xg.108575895C>ACA2694411446COL4A5c.547-15C>A (n.547-15C>A)
c.223-15C>A (n.223-15C>A)
c.562-15C>A (n.562-15C>A)
 gnomAD v4
Xg.108575895C=CA2450681469COL4A5c.547-15C= (n.547-15C=)
c.223-15C= (n.223-15C=)
c.562-15C= (n.562-15C=)
Xg.108575895C>TCA643749771COL4A5c.547-15C>T (n.547-15C>T)
c.223-15C>T (n.223-15C>T)
c.562-15C>T (n.562-15C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575896T>CCA2694411449COL4A5c.547-14T>C (n.547-14T>C)
c.223-14T>C (n.223-14T>C)
c.562-14T>C (n.562-14T>C)
 gnomAD v4
Xg.108575897C>ACA2694411450COL4A5c.547-13C>A (n.547-13C>A)
c.223-13C>A (n.223-13C>A)
c.562-13C>A (n.562-13C>A)
 gnomAD v4
Xg.108575897C>TCA2504827004COL4A5c.547-13C>T (n.547-13C>T)
c.223-13C>T (n.223-13C>T)
c.562-13C>T (n.562-13C>T)
 gnomAD v4
Xg.108575898A>GCA2694411451COL4A5c.547-12A>G (n.547-12A>G)
c.223-12A>G (n.223-12A>G)
c.562-12A>G (n.562-12A>G)
 gnomAD v4
Xg.108575898A>TCA2553197837COL4A5c.547-12A>T (n.547-12A>T)
c.223-12A>T (n.223-12A>T)
c.562-12A>T (n.562-12A>T)
Xg.108575899C>ACA643749772COL4A5c.547-11C>A (n.547-11C>A)
c.223-11C>A (n.223-11C>A)
c.562-11C>A (n.562-11C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.108575899C=CA2450681470COL4A5c.547-11C= (n.547-11C=)
c.223-11C= (n.223-11C=)
c.562-11C= (n.562-11C=)
Xg.108575899C>GCA2573055061COL4A5c.547-11C>G (n.547-11C>G)
c.223-11C>G (n.223-11C>G)
c.562-11C>G (n.562-11C>G)
 ClinVar dbSNP
Xg.108575899C>TCA2694411456COL4A5c.547-11C>T (n.547-11C>T)
c.223-11C>T (n.223-11C>T)
c.562-11C>T (n.562-11C>T)
 gnomAD v4
Xg.108575900T>CCA2694411462COL4A5c.547-10T>C (n.547-10T>C)
c.223-10T>C (n.223-10T>C)
c.562-10T>C (n.562-10T>C)
 gnomAD v4
Xg.108575900T>GCA2579675903COL4A5c.547-10T>G (n.547-10T>G)
c.223-10T>G (n.223-10T>G)
c.562-10T>G (n.562-10T>G)
Xg.108575902delCA2694411461COL4A5c.547-8del (n.547-8del)
c.223-8del (n.223-8del)
c.562-8del (n.562-8del)
 gnomAD v4
Xg.108575901T>ACA2694411463COL4A5c.547-9T>A (n.547-9T>A)
c.223-9T>A (n.223-9T>A)
c.562-9T>A (n.562-9T>A)
 gnomAD v4
Xg.108575901T>CCA2694411464COL4A5c.547-9T>C (n.547-9T>C)
c.223-9T>C (n.223-9T>C)
c.562-9T>C (n.562-9T>C)
 gnomAD v4
Xg.108575903A>TCA2694411465COL4A5c.547-7A>T (n.547-7A>T)
c.223-7A>T (n.223-7A>T)
c.562-7A>T (n.562-7A>T)
 gnomAD v4
Xg.108575906delCA2694411466COL4A5c.547-4del (n.547-4del)
c.223-4del (n.223-4del)
c.562-4del (n.562-4del)
 gnomAD v4
Xg.108575906A>GCA2694411468COL4A5c.547-4A>G (n.547-4A>G)
c.223-4A>G (n.223-4A>G)
c.562-4A>G (n.562-4A>G)
 gnomAD v4
Xg.108575907C>ACA891843909COL4A5c.547-3C>A (n.547-3C>A)
c.223-3C>A (n.223-3C>A)
c.562-3C>A (n.562-3C>A)
 gnomAD v4
Xg.108575907C=CA2450681471COL4A5c.547-3C= (n.547-3C=)
c.223-3C= (n.223-3C=)
c.562-3C= (n.562-3C=)
Xg.108575907C>GCA2695235181COL4A5c.547-3C>G (n.547-3C>G)
c.223-3C>G (n.223-3C>G)
c.562-3C>G (n.562-3C>G)
Xg.108575907C>TCA2450681472COL4A5c.547-3C>T (n.547-3C>T)
c.223-3C>T (n.223-3C>T)
c.562-3C>T (n.562-3C>T)
 dbSNP gnomAD v4
Xg.108575908A=CA2450681473COL4A5c.547-2A= (n.547-2A=)
c.223-2A= (n.223-2A=)
c.562-2A= (n.562-2A=)
Xg.108575908A>CCA413921822COL4A5c.547-2A>C (n.547-2A>C)
c.223-2A>C (n.223-2A>C)
c.562-2A>C (n.562-2A>C)
Xg.108575908A>GCA258267COL4A5c.547-2A>G (n.547-2A>G)
c.223-2A>G (n.223-2A>G)
c.562-2A>G (n.562-2A>G)
 dbSNP gnomAD v4
Xg.108575908A>TCA413921861COL4A5c.547-2A>T (n.547-2A>T)
c.223-2A>T (n.223-2A>T)
c.562-2A>T (n.562-2A>T)
Xg.108575909G>ACA258268COL4A5c.547-1G>A (n.547-1G>A)
c.223-1G>A (n.223-1G>A)
c.562-1G>A (n.562-1G>A)
 ClinVar dbSNP gnomAD v4
Xg.108575909G>CCA413921869COL4A5c.547-1G>C (n.547-1G>C)
c.223-1G>C (n.223-1G>C)
c.562-1G>C (n.562-1G>C)
Xg.108575909G=CA2450681474COL4A5c.547-1G= (n.547-1G=)
c.223-1G= (n.223-1G=)
c.562-1G= (n.562-1G=)
Xg.108575909G>TCA413921868COL4A5c.547-1G>T (n.547-1G>T)
c.223-1G>T (n.223-1G>T)
c.562-1G>T (n.562-1G>T)
 gnomAD v4
Xg.108575911dupCA258269COL4A5c.548dup
c.224dup
c.563dup
 dbSNP
Xg.108575911delCA2694411477COL4A5c.548del
c.224del
c.563del
 gnomAD v4
Xg.108575910G>ACA413921871COL4A5c.547G>A (p.Gly183Ser)
c.223G>A (p.Gly75Ser)
c.562G>A (p.Gly188Ser)
 ClinVar dbSNP gnomAD v4
Xg.108575910G>CCA413921872COL4A5c.547G>C (p.Gly183Arg)
c.223G>C (p.Gly75Arg)
c.562G>C (p.Gly188Arg)
Xg.108575910G=CA2450681475COL4A5c.547G= (p.Gly183=)
c.223G= (p.Gly75=)
c.562G= (p.Gly188=)
Xg.108575910G>TCA413921876COL4A5c.547G>T (p.Gly183Cys)
c.223G>T (p.Gly75Cys)
c.562G>T (p.Gly188Cys)
 gnomAD v4
Xg.108575910_108575911insCCA334179897COL4A5c.547_548insC (p.Gly183AlafsTer?)
c.223_224insC (p.Gly75AlafsTer?)
c.562_563insC (p.Gly188AlafsTer?)
 dbSNP
Xg.108575911G>ACA413921892COL4A5c.548G>A (p.Gly183Asp)
c.224G>A (p.Gly75Asp)
c.563G>A (p.Gly188Asp)
 ClinVar dbSNP gnomAD v4
Xg.108575911G>CCA413921893COL4A5c.548G>C (p.Gly183Ala)
c.224G>C (p.Gly75Ala)
c.563G>C (p.Gly188Ala)
Xg.108575911G=CA2450681476COL4A5c.548G= (p.Gly183=)
c.224G= (p.Gly75=)
c.563G= (p.Gly188=)
Xg.108575911G>TCA258270COL4A5c.548G>T (p.Gly183Val)
c.224G>T (p.Gly75Val)
c.563G>T (p.Gly188Val)
 dbSNP gnomAD v4
Xg.108575912C>ACA517991655COL4A5c.549C>A (p.Gly183=)
c.225C>A (p.Gly75=)
c.564C>A (p.Gly188=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108575912C=CA2450681477COL4A5c.549C= (p.Gly183=)
c.225C= (p.Gly75=)
c.564C= (p.Gly188=)
Xg.108575912C>GCA517991656COL4A5c.549C>G (p.Gly183=)
c.225C>G (p.Gly75=)
c.564C>G (p.Gly188=)
Xg.108575912C>TCA517991657COL4A5c.549C>T (p.Gly183=)
c.225C>T (p.Gly75=)
c.564C>T (p.Gly188=)
 gnomAD v4 COSMIC COSMIC
Xg.108575913dupCA258273COL4A5c.550dup (p.Leu184ProfsTer?)
c.226dup (p.Leu76ProfsTer?)
c.565dup (p.Leu189ProfsTer?)
 dbSNP
Xg.108575913C>ACA413921901COL4A5c.550C>A (p.Leu184Ile)
c.226C>A (p.Leu76Ile)
c.565C>A (p.Leu189Ile)
 gnomAD v4
Xg.108575913C>GCA413921903COL4A5c.550C>G (p.Leu184Val)
c.226C>G (p.Leu76Val)
c.565C>G (p.Leu189Val)
Xg.108575913C>TCA517991658COL4A5c.550C>T (p.Leu184=)
c.226C>T (p.Leu76=)
c.565C>T (p.Leu189=)
 ClinVar gnomAD v4
Xg.108575914T>ACA413921910COL4A5c.551T>A (p.Leu184Gln)
c.227T>A (p.Leu76Gln)
c.566T>A (p.Leu189Gln)
 gnomAD v4
Xg.108575914T>CCA413921918COL4A5c.551T>C (p.Leu184Pro)
c.227T>C (p.Leu76Pro)
c.566T>C (p.Leu189Pro)
 gnomAD v4
Xg.108575914T>GCA413921922COL4A5c.551T>G (p.Leu184Arg)
c.227T>G (p.Leu76Arg)
c.566T>G (p.Leu189Arg)
 gnomAD v4
Xg.108575915delCA2579675904COL4A5c.552del (p.Pro185LeufsTer18)
c.228del (p.Pro77LeufsTer18)
c.567del (p.Pro190LeufsTer18)
Xg.108575915A>CCA517991659COL4A5c.552A>C (p.Leu184=)
c.228A>C (p.Leu76=)
c.567A>C (p.Leu189=)
Xg.108575915A>GCA517991660COL4A5c.552A>G (p.Leu184=)
c.228A>G (p.Leu76=)
c.567A>G (p.Leu189=)
 gnomAD v4
Xg.108575915A>TCA517991661COL4A5c.552A>T (p.Leu184=)
c.228A>T (p.Leu76=)
c.567A>T (p.Leu189=)
 ClinVar dbSNP gnomAD v4
Xg.108575916C>ACA413921925COL4A5c.553C>A (p.Pro185Thr)
c.229C>A (p.Pro77Thr)
c.568C>A (p.Pro190Thr)
 gnomAD v4
Xg.108575916C>GCA413921923COL4A5c.553C>G (p.Pro185Ala)
c.229C>G (p.Pro77Ala)
c.568C>G (p.Pro190Ala)
Xg.108575916C>TCA413921924COL4A5c.553C>T (p.Pro185Ser)
c.229C>T (p.Pro77Ser)
c.568C>T (p.Pro190Ser)
 gnomAD v4
Xg.108575917C>ACA413921930COL4A5c.554C>A (p.Pro185His)
c.230C>A (p.Pro77His)
c.569C>A (p.Pro190His)
 gnomAD v4
Xg.108575917C=CA2450681478COL4A5c.554C= (p.Pro185=)
c.230C= (p.Pro77=)
c.569C= (p.Pro190=)
Xg.108575917C>GCA413921937COL4A5c.554C>G (p.Pro185Arg)
c.230C>G (p.Pro77Arg)
c.569C>G (p.Pro190Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108575917C>TCA413921942COL4A5c.554C>T (p.Pro185Leu)
c.230C>T (p.Pro77Leu)
c.569C>T (p.Pro190Leu)
 gnomAD v4
Xg.108575918T>ACA517991662COL4A5c.555T>A (p.Pro185=)
c.231T>A (p.Pro77=)
c.570T>A (p.Pro190=)
Xg.108575918T>CCA517991663COL4A5c.555T>C (p.Pro185=)
c.231T>C (p.Pro77=)
c.570T>C (p.Pro190=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108575918T>GCA517991664COL4A5c.555T>G (p.Pro185=)
c.231T>G (p.Pro77=)
c.570T>G (p.Pro190=)
Xg.108575918T=CA2450681479COL4A5c.555T= (p.Pro185=)
c.231T= (p.Pro77=)
c.570T= (p.Pro190=)
Xg.108575919G>ACA413921949COL4A5c.556G>A (p.Gly186Ser)
c.232G>A (p.Gly78Ser)
c.571G>A (p.Gly191Ser)
 ClinVar dbSNP gnomAD v4
Xg.108575919G>CCA413921951COL4A5c.556G>C (p.Gly186Arg)
c.232G>C (p.Gly78Arg)
c.571G>C (p.Gly191Arg)
Xg.108575919G=CA2450681480COL4A5c.556G= (p.Gly186=)
c.232G= (p.Gly78=)
c.571G= (p.Gly191=)
Xg.108575919G>TCA413921953COL4A5c.556G>T (p.Gly186Cys)
c.232G>T (p.Gly78Cys)
c.571G>T (p.Gly191Cys)
Xg.108575920delCA2579675905COL4A5c.557del (p.Gly186ValfsTer17)
c.233del (p.Gly78ValfsTer17)
c.572del (p.Gly191ValfsTer17)
 gnomAD v4
Xg.108575920G>ACA413921954COL4A5c.557G>A (p.Gly186Asp)
c.233G>A (p.Gly78Asp)
c.572G>A (p.Gly191Asp)
 ClinVar dbSNP gnomAD v4
Xg.108575920G>CCA413921956COL4A5c.557G>C (p.Gly186Ala)
c.233G>C (p.Gly78Ala)
c.572G>C (p.Gly191Ala)
Xg.108575920G>TCA413921960COL4A5c.557G>T (p.Gly186Val)
c.233G>T (p.Gly78Val)
c.572G>T (p.Gly191Val)
 gnomAD v4
Xg.108575921T>ACA517991665COL4A5c.558T>A (p.Gly186=)
c.234T>A (p.Gly78=)
c.573T>A (p.Gly191=)
Xg.108575921T>CCA517991666COL4A5c.558T>C (p.Gly186=)
c.234T>C (p.Gly78=)
c.573T>C (p.Gly191=)
 gnomAD v4
Xg.108575921T>GCA517991667COL4A5c.558T>G (p.Gly186=)
c.234T>G (p.Gly78=)
c.573T>G (p.Gly191=)
 gnomAD v4
Xg.108575921T=CA2450681481COL4A5c.558T= (p.Gly186=)
c.234T= (p.Gly78=)
c.573T= (p.Gly191=)
Xg.108575922C>ACA413921964COL4A5c.559C>A (p.Pro187Thr)
c.235C>A (p.Pro79Thr)
c.574C>A (p.Pro192Thr)
 gnomAD v3 gnomAD v4
Xg.108575922C>GCA413921966COL4A5c.559C>G (p.Pro187Ala)
c.235C>G (p.Pro79Ala)
c.574C>G (p.Pro192Ala)
Xg.108575922C>TCA413921968COL4A5c.559C>T (p.Pro187Ser)
c.235C>T (p.Pro79Ser)
c.574C>T (p.Pro192Ser)
Xg.108575923_108575924dupCA891843910COL4A5c.560_561dup (p.Thr188ProfsTer16)
c.236_237dup (p.Thr80ProfsTer16)
c.575_576dup (p.Thr193ProfsTer16)
Xg.108575924delCA2694411544COL4A5c.561del (p.Thr188LeufsTer15)
c.237del (p.Thr80LeufsTer15)
c.576del (p.Thr193LeufsTer15)
 gnomAD v4
Xg.108575923C>ACA413921995COL4A5c.560C>A (p.Pro187His)
c.236C>A (p.Pro79His)
c.575C>A (p.Pro192His)
 gnomAD v4
Xg.108575923C>GCA413921988COL4A5c.560C>G (p.Pro187Arg)
c.236C>G (p.Pro79Arg)
c.575C>G (p.Pro192Arg)
Xg.108575923C>TCA413921970COL4A5c.560C>T (p.Pro187Leu)
c.236C>T (p.Pro79Leu)
c.575C>T (p.Pro192Leu)
 gnomAD v4
Xg.108575927_108575961delCA2580100156COL4A5c.564_598del (p.Gly189ArgfsTer15)
c.240_274del (p.Gly81ArgfsTer15)
c.579_613del (p.Gly194ArgfsTer15)
 ClinVar
Xg.108575924C>ACA517991670COL4A5c.561C>A (p.Pro187=)
c.237C>A (p.Pro79=)
c.576C>A (p.Pro192=)
 gnomAD v4
Xg.108575924C>GCA517991668COL4A5c.561C>G (p.Pro187=)
c.237C>G (p.Pro79=)
c.576C>G (p.Pro192=)
Xg.108575924C>TCA517991669COL4A5c.561C>T (p.Pro187=)
c.237C>T (p.Pro79=)
c.576C>T (p.Pro192=)
Xg.108575925A>CCA413922000COL4A5c.562A>C (p.Thr188Pro)
c.238A>C (p.Thr80Pro)
c.577A>C (p.Thr193Pro)
Xg.108575925A>GCA413922005COL4A5c.562A>G (p.Thr188Ala)
c.238A>G (p.Thr80Ala)
c.577A>G (p.Thr193Ala)
Xg.108575925A>TCA413922002COL4A5c.562A>T (p.Thr188Ser)
c.238A>T (p.Thr80Ser)
c.577A>T (p.Thr193Ser)
 gnomAD v4
Xg.108575926C>ACA413922008COL4A5c.563C>A (p.Thr188Asn)
c.239C>A (p.Thr80Asn)
c.578C>A (p.Thr193Asn)
 gnomAD v4
Xg.108575926C>GCA413922015COL4A5c.563C>G (p.Thr188Ser)
c.239C>G (p.Thr80Ser)
c.578C>G (p.Thr193Ser)
Xg.108575926C>TCA413922025COL4A5c.563C>T (p.Thr188Ile)
c.239C>T (p.Thr80Ile)
c.578C>T (p.Thr193Ile)
 gnomAD v4
Xg.108575927T>ACA517991671COL4A5c.564T>A (p.Thr188=)
c.240T>A (p.Thr80=)
c.579T>A (p.Thr193=)
 gnomAD v4
Xg.108575927T>CCA517991672COL4A5c.564T>C (p.Thr188=)
c.240T>C (p.Thr80=)
c.579T>C (p.Thr193=)
 gnomAD v4
Xg.108575927T>GCA517991673COL4A5c.564T>G (p.Thr188=)
c.240T>G (p.Thr80=)
c.579T>G (p.Thr193=)
Xg.108575928G>ACA413922029COL4A5c.565G>A (p.Gly189Ser)
c.241G>A (p.Gly81Ser)
c.580G>A (p.Gly194Ser)
Xg.108575928G>CCA413922050COL4A5c.565G>C (p.Gly189Arg)
c.241G>C (p.Gly81Arg)
c.580G>C (p.Gly194Arg)
Xg.108575928G>TCA413922051COL4A5c.565G>T (p.Gly189Cys)
c.241G>T (p.Gly81Cys)
c.580G>T (p.Gly194Cys)
 gnomAD v4
Xg.108575929delCA2694411558COL4A5c.566del (p.Gly189ValfsTer14)
c.242del (p.Gly81ValfsTer14)
c.581del (p.Gly194ValfsTer14)
 gnomAD v4
Xg.108575929G>ACA413922053COL4A5c.566G>A (p.Gly189Asp)
c.242G>A (p.Gly81Asp)
c.581G>A (p.Gly194Asp)
 gnomAD v4
Xg.108575929G>CCA413922055COL4A5c.566G>C (p.Gly189Ala)
c.242G>C (p.Gly81Ala)
c.581G>C (p.Gly194Ala)
Xg.108575929G>TCA413922057COL4A5c.566G>T (p.Gly189Val)
c.242G>T (p.Gly81Val)
c.581G>T (p.Gly194Val)
 gnomAD v4
Xg.108575929_108575931delinsGTACA2450681482COL4A5c.566_568delinsGTA (p.Gly189=)
c.242_244delinsGTA (p.Gly81=)
c.581_583delinsGTA (p.Gly194=)
Xg.108575930T>ACA517991676COL4A5c.567T>A (p.Gly189=)
c.243T>A (p.Gly81=)
c.582T>A (p.Gly194=)
Xg.108575930T>CCA517991674COL4A5c.567T>C (p.Gly189=)
c.243T>C (p.Gly81=)
c.582T>C (p.Gly194=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108575930T>GCA517991675COL4A5c.567T>G (p.Gly189=)
c.243T>G (p.Gly81=)
c.582T>G (p.Gly194=)
Xg.108575930T=CA2450681483COL4A5c.567T= (p.Gly189=)
c.243T= (p.Gly81=)
c.582T= (p.Gly194=)
Xg.108575930dupCA2695235182COL4A5c.567dup (p.Ile190TyrfsTer26)
c.243dup (p.Ile82TyrfsTer26)
c.582dup (p.Ile195TyrfsTer26)
Xg.108575932_108575933delCA658799834COL4A5c.569_570del (p.Ile190ThrfsTer25)
c.245_246del (p.Ile82ThrfsTer25)
c.584_585del (p.Ile195ThrfsTer25)
 ClinVar dbSNP
Xg.108575931A=CA2450681484COL4A5c.568A= (p.Ile190=)
c.244A= (p.Ile82=)
c.583A= (p.Ile195=)
Xg.108575931A>CCA413922061COL4A5c.568A>C (p.Ile190Leu)
c.244A>C (p.Ile82Leu)
c.583A>C (p.Ile195Leu)
Xg.108575931A>GCA10488510COL4A5c.568A>G (p.Ile190Val)
c.244A>G (p.Ile82Val)
c.583A>G (p.Ile195Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575931A>TCA413922074COL4A5c.568A>T (p.Ile190Leu)
c.244A>T (p.Ile82Leu)
c.583A>T (p.Ile195Leu)
Xg.108575932T>ACA413922107COL4A5c.569T>A (p.Ile190Lys)
c.245T>A (p.Ile82Lys)
c.584T>A (p.Ile195Lys)
Xg.108575932T>CCA413922090COL4A5c.569T>C (p.Ile190Thr)
c.245T>C (p.Ile82Thr)
c.584T>C (p.Ile195Thr)
Xg.108575932T>GCA413922102COL4A5c.569T>G (p.Ile190Arg)
c.245T>G (p.Ile82Arg)
c.584T>G (p.Ile195Arg)
Xg.108575933A>CCA517991677COL4A5c.570A>C (p.Ile190=)
c.246A>C (p.Ile82=)
c.585A>C (p.Ile195=)
Xg.108575933A>GCA413922121COL4A5c.570A>G (p.Ile190Met)
c.246A>G (p.Ile82Met)
c.585A>G (p.Ile195Met)
 gnomAD v4
Xg.108575933A>TCA517991678COL4A5c.570A>T (p.Ile190=)
c.246A>T (p.Ile82=)
c.585A>T (p.Ile195=)
 ClinVar dbSNP
Xg.108575934C>ACA413922133COL4A5c.571C>A (p.Pro191Thr)
c.247C>A (p.Pro83Thr)
c.586C>A (p.Pro196Thr)
Xg.108575934C>GCA413922139COL4A5c.571C>G (p.Pro191Ala)
c.247C>G (p.Pro83Ala)
c.586C>G (p.Pro196Ala)
Xg.108575934C>TCA413922143COL4A5c.571C>T (p.Pro191Ser)
c.247C>T (p.Pro83Ser)
c.586C>T (p.Pro196Ser)
 gnomAD v4
Xg.108575934_108575946delinsCCAGGGCCAATTGCA2450681485COL4A5c.571_583delinsCCAGGGCCAATTG (p.Pro191=)
c.247_259delinsCCAGGGCCAATTG (p.Pro83=)
c.586_598delinsCCAGGGCCAATTG (p.Pro196=)
Xg.108575935C>ACA334179902COL4A5c.572C>A (p.Pro191Gln)
c.248C>A (p.Pro83Gln)
c.587C>A (p.Pro196Gln)
 dbSNP gnomAD v4
Xg.108575935C=CA2450681486COL4A5c.572C= (p.Pro191=)
c.248C= (p.Pro83=)
c.587C= (p.Pro196=)
Xg.108575935C>GCA413922155COL4A5c.572C>G (p.Pro191Arg)
c.248C>G (p.Pro83Arg)
c.587C>G (p.Pro196Arg)
Xg.108575935C>TCA413922160COL4A5c.572C>T (p.Pro191Leu)
c.248C>T (p.Pro83Leu)
c.587C>T (p.Pro196Leu)
 gnomAD v4
Xg.108575935_108575946delCA891863003COL4A5c.572_583del (p.Pro191_Gly195delinsArg)
c.248_259del (p.Pro83_Gly87delinsArg)
c.587_598del (p.Pro196_Gly200delinsArg)
 ClinVar dbSNP
Xg.108575936A>CCA517991679COL4A5c.573A>C (p.Pro191=)
c.249A>C (p.Pro83=)
c.588A>C (p.Pro196=)
Xg.108575936A>GCA517991680COL4A5c.573A>G (p.Pro191=)
c.249A>G (p.Pro83=)
c.588A>G (p.Pro196=)
Xg.108575936A>TCA517991681COL4A5c.573A>T (p.Pro191=)
c.249A>T (p.Pro83=)
c.588A>T (p.Pro196=)
Xg.108575936_108575937dupCA261043COL4A5c.573_574dup (p.Gly192GlufsTer12)
c.249_250dup (p.Gly84GlufsTer12)
c.588_589dup (p.Gly197GlufsTer12)
 dbSNP
Xg.108575937G>ACA258274COL4A5c.574G>A (p.Gly192Arg)
c.250G>A (p.Gly84Arg)
c.589G>A (p.Gly197Arg)
 ClinVar dbSNP gnomAD v4
Xg.108575937G>CCA413922168COL4A5c.574G>C (p.Gly192Arg)
c.250G>C (p.Gly84Arg)
c.589G>C (p.Gly197Arg)
Xg.108575937G=CA2450681487COL4A5c.574G= (p.Gly192=)
c.250G= (p.Gly84=)
c.589G= (p.Gly197=)
Xg.108575937G>TCA413922187COL4A5c.574G>T (p.Gly192Trp)
c.250G>T (p.Gly84Trp)
c.589G>T (p.Gly197Trp)
 ClinVar dbSNP gnomAD v4
Xg.108575939dupCA2695235183COL4A5c.576dup (p.Pro193AlafsTer23)
c.252dup (p.Pro85AlafsTer23)
c.591dup (p.Pro198AlafsTer23)
Xg.108575938G>ACA413922225COL4A5c.575G>A (p.Gly192Glu)
c.251G>A (p.Gly84Glu)
c.590G>A (p.Gly197Glu)
 ClinVar dbSNP gnomAD v4
Xg.108575938G>CCA413922195COL4A5c.575G>C (p.Gly192Ala)
c.251G>C (p.Gly84Ala)
c.590G>C (p.Gly197Ala)
Xg.108575938G>TCA413922192COL4A5c.575G>T (p.Gly192Val)
c.251G>T (p.Gly84Val)
c.590G>T (p.Gly197Val)
 gnomAD v4
Xg.108575939G>ACA517991682COL4A5c.576G>A (p.Gly192=)
c.252G>A (p.Gly84=)
c.591G>A (p.Gly197=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108575939G>CCA517991683COL4A5c.576G>C (p.Gly192=)
c.252G>C (p.Gly84=)
c.591G>C (p.Gly197=)
Xg.108575939G=CA2450681488COL4A5c.576G= (p.Gly192=)
c.252G= (p.Gly84=)
c.591G= (p.Gly197=)
Xg.108575939G>TCA517991684COL4A5c.576G>T (p.Gly192=)
c.252G>T (p.Gly84=)
c.591G>T (p.Gly197=)
Xg.108575940C>ACA413922230COL4A5c.577C>A (p.Pro193Thr)
c.253C>A (p.Pro85Thr)
c.592C>A (p.Pro198Thr)
 gnomAD v4
Xg.108575940C>GCA413922235COL4A5c.577C>G (p.Pro193Ala)
c.253C>G (p.Pro85Ala)
c.592C>G (p.Pro198Ala)
Xg.108575940C>TCA413922238COL4A5c.577C>T (p.Pro193Ser)
c.253C>T (p.Pro85Ser)
c.592C>T (p.Pro198Ser)
 gnomAD v4
Xg.108575941delCA2694411575COL4A5c.578del (p.Pro193GlnfsTer10)
c.254del (p.Pro85GlnfsTer10)
c.593del (p.Pro198GlnfsTer10)
 gnomAD v4
Xg.108575941C>ACA413922249COL4A5c.578C>A (p.Pro193Gln)
c.254C>A (p.Pro85Gln)
c.593C>A (p.Pro198Gln)
 gnomAD v4
Xg.108575941C=CA2450681489COL4A5c.578C= (p.Pro193=)
c.254C= (p.Pro85=)
c.593C= (p.Pro198=)
Xg.108575941C>GCA413922250COL4A5c.578C>G (p.Pro193Arg)
c.254C>G (p.Pro85Arg)
c.593C>G (p.Pro198Arg)
Xg.108575941C>TCA334179907COL4A5c.578C>T (p.Pro193Leu)
c.254C>T (p.Pro85Leu)
c.593C>T (p.Pro198Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108575942A=CA2450681490COL4A5c.579A= (p.Pro193=)
c.255A= (p.Pro85=)
c.594A= (p.Pro198=)
Xg.108575942A>CCA517991685COL4A5c.579A>C (p.Pro193=)
c.255A>C (p.Pro85=)
c.594A>C (p.Pro198=)
 gnomAD v4
Xg.108575942A>GCA517991686COL4A5c.579A>G (p.Pro193=)
c.255A>G (p.Pro85=)
c.594A>G (p.Pro198=)
 dbSNP
Xg.108575942A>TCA517991687COL4A5c.579A>T (p.Pro193=)
c.255A>T (p.Pro85=)
c.594A>T (p.Pro198=)
Xg.108575943A=CA2450681491COL4A5c.580A= (p.Ile194=)
c.256A= (p.Ile86=)
c.595A= (p.Ile199=)
Xg.108575943A>CCA413922256COL4A5c.580A>C (p.Ile194Leu)
c.256A>C (p.Ile86Leu)
c.595A>C (p.Ile199Leu)
Xg.108575943A>GCA10488511COL4A5c.580A>G (p.Ile194Val)
c.256A>G (p.Ile86Val)
c.595A>G (p.Ile199Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575943A>TCA413922265COL4A5c.580A>T (p.Ile194Phe)
c.256A>T (p.Ile86Phe)
c.595A>T (p.Ile199Phe)
Xg.108575944T>ACA413922270COL4A5c.581T>A (p.Ile194Asn)
c.257T>A (p.Ile86Asn)
c.596T>A (p.Ile199Asn)
 gnomAD v4
Xg.108575944T>CCA334179910COL4A5c.581T>C (p.Ile194Thr)
c.257T>C (p.Ile86Thr)
c.596T>C (p.Ile199Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575944T>GCA413922279COL4A5c.581T>G (p.Ile194Ser)
c.257T>G (p.Ile86Ser)
c.596T>G (p.Ile199Ser)
Xg.108575944T=CA2450681492COL4A5c.581T= (p.Ile194=)
c.257T= (p.Ile86=)
c.596T= (p.Ile199=)
Xg.108575945T>ACA517991689COL4A5c.582T>A (p.Ile194=)
c.258T>A (p.Ile86=)
c.597T>A (p.Ile199=)
Xg.108575945T>CCA517991688COL4A5c.582T>C (p.Ile194=)
c.258T>C (p.Ile86=)
c.597T>C (p.Ile199=)
 gnomAD v4
Xg.108575945T>GCA413922281COL4A5c.582T>G (p.Ile194Met)
c.258T>G (p.Ile86Met)
c.597T>G (p.Ile199Met)
Xg.108575946G>ACA413922284COL4A5c.583G>A (p.Gly195Ser)
c.259G>A (p.Gly87Ser)
c.598G>A (p.Gly200Ser)
 gnomAD v4
Xg.108575946G>CCA413922282COL4A5c.583G>C (p.Gly195Arg)
c.259G>C (p.Gly87Arg)
c.598G>C (p.Gly200Arg)
Xg.108575946G>TCA413922283COL4A5c.583G>T (p.Gly195Cys)
c.259G>T (p.Gly87Cys)
c.598G>T (p.Gly200Cys)
 gnomAD v4 COSMIC COSMIC
Xg.108575947G>ACA258276COL4A5c.584G>A (p.Gly195Asp)
c.260G>A (p.Gly87Asp)
c.599G>A (p.Gly200Asp)
 ClinVar dbSNP
Xg.108575947G>CCA413922298COL4A5c.584G>C (p.Gly195Ala)
c.260G>C (p.Gly87Ala)
c.599G>C (p.Gly200Ala)
 gnomAD v4
Xg.108575947G=CA2450681493COL4A5c.584G= (p.Gly195=)
c.260G= (p.Gly87=)
c.599G= (p.Gly200=)
Xg.108575947G>TCA413922299COL4A5c.584G>T (p.Gly195Val)
c.260G>T (p.Gly87Val)
c.599G>T (p.Gly200Val)
 ClinVar dbSNP COSMIC COSMIC
Xg.108575948delCA2694411592COL4A5c.585del (p.Pro197GlnfsTer6)
c.261del (p.Pro89GlnfsTer6)
c.600del (p.Pro202GlnfsTer6)
 ClinVar gnomAD v4
Xg.108575948T>ACA517991690COL4A5c.585T>A (p.Gly195=)
c.261T>A (p.Gly87=)
c.600T>A (p.Gly200=)
Xg.108575948T>CCA517991691COL4A5c.585T>C (p.Gly195=)
c.261T>C (p.Gly87=)
c.600T>C (p.Gly200=)
 gnomAD v4
Xg.108575948T>GCA517991692COL4A5c.585T>G (p.Gly195=)
c.261T>G (p.Gly87=)
c.600T>G (p.Gly200=)
Xg.108575948_108575949delinsTCCA2450681494COL4A5c.585_586delinsTC (p.Gly195=)
c.261_262delinsTC (p.Gly87=)
c.600_601delinsTC (p.Gly200=)
Xg.108575949C>ACA413922301COL4A5c.586C>A (p.Pro196Thr)
c.262C>A (p.Pro88Thr)
c.601C>A (p.Pro201Thr)
 gnomAD v4
Xg.108575949C>GCA413922304COL4A5c.586C>G (p.Pro196Ala)
c.262C>G (p.Pro88Ala)
c.601C>G (p.Pro201Ala)
Xg.108575949C>TCA413922311COL4A5c.586C>T (p.Pro196Ser)
c.262C>T (p.Pro88Ser)
c.601C>T (p.Pro201Ser)
 gnomAD v4
Xg.108575953delCA891843911COL4A5c.590del (p.Pro197GlnfsTer6)
c.266del (p.Pro89GlnfsTer6)
c.605del (p.Pro202GlnfsTer6)
 gnomAD v4
Xg.108575950C>ACA413922314COL4A5c.587C>A (p.Pro196His)
c.263C>A (p.Pro88His)
c.602C>A (p.Pro201His)
 gnomAD v4
Xg.108575950C=CA2450681495COL4A5c.587C= (p.Pro196=)
c.263C= (p.Pro88=)
c.602C= (p.Pro201=)
Xg.108575950C>GCA413922326COL4A5c.587C>G (p.Pro196Arg)
c.263C>G (p.Pro88Arg)
c.602C>G (p.Pro201Arg)
Xg.108575950C>TCA413922332COL4A5c.587C>T (p.Pro196Leu)
c.263C>T (p.Pro88Leu)
c.602C>T (p.Pro201Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108575951C>ACA517991693COL4A5c.588C>A (p.Pro196=)
c.264C>A (p.Pro88=)
c.603C>A (p.Pro201=)
 gnomAD v4
Xg.108575951C>GCA517991694COL4A5c.588C>G (p.Pro196=)
c.264C>G (p.Pro88=)
c.603C>G (p.Pro201=)
 gnomAD v4
Xg.108575951C>TCA517991695COL4A5c.588C>T (p.Pro196=)
c.264C>T (p.Pro88=)
c.603C>T (p.Pro201=)
 gnomAD v4
Xg.108575951_108575954delCA2694411599COL4A5c.588_591del (p.Pro197AspfsTer5)
c.264_267del (p.Pro89AspfsTer5)
c.603_606del (p.Pro202AspfsTer5)
 gnomAD v4
Xg.108575952C>ACA413922342COL4A5c.589C>A (p.Pro197Thr)
c.265C>A (p.Pro89Thr)
c.604C>A (p.Pro202Thr)
 gnomAD v4
Xg.108575952C=CA2450681496COL4A5c.589C= (p.Pro197=)
c.265C= (p.Pro89=)
c.604C= (p.Pro202=)
Xg.108575952C>GCA413922343COL4A5c.589C>G (p.Pro197Ala)
c.265C>G (p.Pro89Ala)
c.604C>G (p.Pro202Ala)
Xg.108575952C>TCA10488512COL4A5c.589C>T (p.Pro197Ser)
c.265C>T (p.Pro89Ser)
c.604C>T (p.Pro202Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575953C>ACA413922351COL4A5c.590C>A (p.Pro197Gln)
c.266C>A (p.Pro89Gln)
c.605C>A (p.Pro202Gln)
 gnomAD v4
Xg.108575953C>GCA413922348COL4A5c.590C>G (p.Pro197Arg)
c.266C>G (p.Pro89Arg)
c.605C>G (p.Pro202Arg)
Xg.108575953C>TCA413922345COL4A5c.590C>T (p.Pro197Leu)
c.266C>T (p.Pro89Leu)
c.605C>T (p.Pro202Leu)
 gnomAD v4
Xg.108575954A=CA2450681497COL4A5c.591A= (p.Pro197=)
c.267A= (p.Pro89=)
c.606A= (p.Pro202=)
Xg.108575954A>CCA517991696COL4A5c.591A>C (p.Pro197=)
c.267A>C (p.Pro89=)
c.606A>C (p.Pro202=)
Xg.108575954A>GCA517991697COL4A5c.591A>G (p.Pro197=)
c.267A>G (p.Pro89=)
c.606A>G (p.Pro202=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108575954A>TCA517991698COL4A5c.591A>T (p.Pro197=)
c.267A>T (p.Pro89=)
c.606A>T (p.Pro202=)
 gnomAD v4
Xg.108575955G>ACA413922363COL4A5c.592G>A (p.Gly198Arg)
c.268G>A (p.Gly90Arg)
c.607G>A (p.Gly203Arg)
 gnomAD v4
Xg.108575955G>CCA413922359COL4A5c.592G>C (p.Gly198Arg)
c.268G>C (p.Gly90Arg)
c.607G>C (p.Gly203Arg)
Xg.108575955G>TCA413922372COL4A5c.592G>T (p.Gly198Ter)
c.268G>T (p.Gly90Ter)
c.607G>T (p.Gly203Ter)
Xg.108575956G>ACA258279COL4A5c.593G>A (p.Gly198Glu)
c.269G>A (p.Gly90Glu)
c.608G>A (p.Gly203Glu)
 dbSNP gnomAD v4
Xg.108575956G>CCA413922399COL4A5c.593G>C (p.Gly198Ala)
c.269G>C (p.Gly90Ala)
c.608G>C (p.Gly203Ala)
Xg.108575956G=CA2450681498COL4A5c.593G= (p.Gly198=)
c.269G= (p.Gly90=)
c.608G= (p.Gly203=)
Xg.108575956G>TCA413922386COL4A5c.593G>T (p.Gly198Val)
c.269G>T (p.Gly90Val)
c.608G>T (p.Gly203Val)
 gnomAD v4
Xg.108575957A>CCA517991699COL4A5c.594A>C (p.Gly198=)
c.270A>C (p.Gly90=)
c.609A>C (p.Gly203=)
Xg.108575957A>GCA517991700COL4A5c.594A>G (p.Gly198=)
c.270A>G (p.Gly90=)
c.609A>G (p.Gly203=)
Xg.108575957A>TCA517991701COL4A5c.594A>T (p.Gly198=)
c.270A>T (p.Gly90=)
c.609A>T (p.Gly203=)
Xg.108575957dupCA658823831COL4A5c.594dup (p.Pro199ThrfsTer17)
c.270dup (p.Pro91ThrfsTer17)
c.609dup (p.Pro204ThrfsTer17)
 ClinVar dbSNP
Xg.108575957_108575960dupCA2695235184COL4A5c.594_597dup (p.Pro200ThrfsTer17)
c.270_273dup (p.Pro92ThrfsTer17)
c.609_612dup (p.Pro205ThrfsTer17)
Xg.108575958C>ACA413922412COL4A5c.595C>A (p.Pro199Thr)
c.271C>A (p.Pro91Thr)
c.610C>A (p.Pro204Thr)
 gnomAD v4
Xg.108575958C>GCA413922420COL4A5c.595C>G (p.Pro199Ala)
c.271C>G (p.Pro91Ala)
c.610C>G (p.Pro204Ala)
Xg.108575958C>TCA413922423COL4A5c.595C>T (p.Pro199Ser)
c.271C>T (p.Pro91Ser)
c.610C>T (p.Pro204Ser)
 gnomAD v4
Xg.108575959delCA2694411607COL4A5c.596del (p.Pro199HisfsTer4)
c.272del (p.Pro91HisfsTer4)
c.611del (p.Pro204HisfsTer4)
 gnomAD v4
Xg.108575959C>ACA10488513COL4A5c.596C>A (p.Pro199Gln)
c.272C>A (p.Pro91Gln)
c.611C>A (p.Pro204Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575959C=CA2450681499COL4A5c.596C= (p.Pro199=)
c.272C= (p.Pro91=)
c.611C= (p.Pro204=)
Xg.108575959C>GCA413922424COL4A5c.596C>G (p.Pro199Arg)
c.272C>G (p.Pro91Arg)
c.611C>G (p.Pro204Arg)
Xg.108575959C>TCA413922425COL4A5c.596C>T (p.Pro199Leu)
c.272C>T (p.Pro91Leu)
c.611C>T (p.Pro204Leu)
 gnomAD v4
Xg.108575960A>CCA517991702COL4A5c.597A>C (p.Pro199=)
c.273A>C (p.Pro91=)
c.612A>C (p.Pro204=)
Xg.108575960A>GCA517991703COL4A5c.597A>G (p.Pro199=)
c.273A>G (p.Pro91=)
c.612A>G (p.Pro204=)
 gnomAD v4
Xg.108575960A>TCA517991704COL4A5c.597A>T (p.Pro199=)
c.273A>T (p.Pro91=)
c.612A>T (p.Pro204=)
 gnomAD v4
Xg.108575961C>ACA413922426COL4A5c.598C>A (p.Pro200Thr)
c.274C>A (p.Pro92Thr)
c.613C>A (p.Pro205Thr)
 gnomAD v4
Xg.108575961C>GCA413922428COL4A5c.598C>G (p.Pro200Ala)
c.274C>G (p.Pro92Ala)
c.613C>G (p.Pro205Ala)
Xg.108575961C>TCA413922429COL4A5c.598C>T (p.Pro200Ser)
c.274C>T (p.Pro92Ser)
c.613C>T (p.Pro205Ser)
 gnomAD v4
Xg.108575961_108575962delCA2694411629COL4A5c.598_599del (p.Pro200ArgfsTer15)
c.274_275del (p.Pro92ArgfsTer15)
c.613_614del (p.Pro205ArgfsTer15)
 gnomAD v4
Xg.108575962delCA2694411628COL4A5c.599del (p.Pro200GlnfsTer3)
c.275del (p.Pro92GlnfsTer3)
c.614del (p.Pro205GlnfsTer3)
 gnomAD v4
Xg.108575962C>ACA413922436COL4A5c.599C>A (p.Pro200Gln)
c.275C>A (p.Pro92Gln)
c.614C>A (p.Pro205Gln)
 gnomAD v4
Xg.108575962C>GCA413922437COL4A5c.599C>G (p.Pro200Arg)
c.275C>G (p.Pro92Arg)
c.614C>G (p.Pro205Arg)
 gnomAD v4
Xg.108575962C>TCA413922439COL4A5c.599C>T (p.Pro200Leu)
c.275C>T (p.Pro92Leu)
c.614C>T (p.Pro205Leu)
 ClinVar gnomAD v4
Xg.108575963delCA2740097814COL4A5c.600del (p.Gly201ValfsTer2)
c.276del (p.Gly93ValfsTer2)
c.615del (p.Gly206ValfsTer2)
 ClinVar
Xg.108575963A=CA2450681500COL4A5c.600A= (p.Pro200=)
c.276A= (p.Pro92=)
c.615A= (p.Pro205=)
Xg.108575963A>CCA334179916COL4A5c.600A>C (p.Pro200=)
c.276A>C (p.Pro92=)
c.615A>C (p.Pro205=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575963A>GCA517991705COL4A5c.600A>G (p.Pro200=)
c.276A>G (p.Pro92=)
c.615A>G (p.Pro205=)
 gnomAD v4
Xg.108575963A>TCA517991706COL4A5c.600A>T (p.Pro200=)
c.276A>T (p.Pro92=)
c.615A>T (p.Pro205=)
 gnomAD v4
Xg.108575963_108575964insAACCTGGTGGTCCTGCA2694411661COL4A5c.600_601insAACCTGGTGGTCCTG (p.Pro200_Gly201insAsnLeuValValLeu)
c.276_277insAACCTGGTGGTCCTG (p.Pro92_Gly93insAsnLeuValValLeu)
c.615_616insAACCTGGTGGTCCTG (p.Pro205_Gly206insAsnLeuValValLeu)
 gnomAD v4
Xg.108575964G>ACA413922447COL4A5c.601G>A (p.Gly201Ser)
c.277G>A (p.Gly93Ser)
c.616G>A (p.Gly206Ser)
 gnomAD v4
Xg.108575964G>CCA413922456COL4A5c.601G>C (p.Gly201Arg)
c.277G>C (p.Gly93Arg)
c.616G>C (p.Gly206Arg)
Xg.108575964G>TCA413922454COL4A5c.601G>T (p.Gly201Cys)
c.277G>T (p.Gly93Cys)
c.616G>T (p.Gly206Cys)
 gnomAD v3 gnomAD v4
Xg.108575964_108575966delCA2694411662COL4A5c.601_603del (p.Gly201del)
c.277_279del (p.Gly93del)
c.616_618del (p.Gly206del)
 gnomAD v4
Xg.108575965G>ACA413922460COL4A5c.602G>A (p.Gly201Asp)
c.278G>A (p.Gly93Asp)
c.617G>A (p.Gly206Asp)
 ClinVar dbSNP gnomAD v4
Xg.108575965G>CCA10488514COL4A5c.602G>C (p.Gly201Ala)
c.278G>C (p.Gly93Ala)
c.617G>C (p.Gly206Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108575965G=CA2450681501COL4A5c.602G= (p.Gly201=)
c.278G= (p.Gly93=)
c.617G= (p.Gly206=)
Xg.108575965G>TCA258282COL4A5c.602G>T (p.Gly201Val)
c.278G>T (p.Gly93Val)
c.617G>T (p.Gly206Val)
 dbSNP gnomAD v4
Xg.108575966T>ACA517991709COL4A5c.603T>A (p.Gly201=)
c.279T>A (p.Gly93=)
c.618T>A (p.Gly206=)
Xg.108575966T>CCA517991708COL4A5c.603T>C (p.Gly201=)
c.279T>C (p.Gly93=)
c.618T>C (p.Gly206=)
 gnomAD v4
Xg.108575966T>GCA517991707COL4A5c.603T>G (p.Gly201=)
c.279T>G (p.Gly93=)
c.618T>G (p.Gly206=)
Xg.108575968delCA2694411668COL4A5c.605del (p.Leu202Ter)
c.281del (p.Leu94Ter)
c.620del (p.Leu207Ter)
 gnomAD v4
Xg.108575967T>ACA413922473COL4A5c.604T>A (p.Leu202Met)
c.280T>A (p.Leu94Met)
c.619T>A (p.Leu207Met)
Xg.108575967T>CCA517991710COL4A5c.604T>C (p.Leu202=)
c.280T>C (p.Leu94=)
c.619T>C (p.Leu207=)
 gnomAD v4
Xg.108575967T>GCA413922486COL4A5c.604T>G (p.Leu202Val)
c.280T>G (p.Leu94Val)
c.619T>G (p.Leu207Val)
 gnomAD v4
Xg.108575968T>ACA413922496COL4A5c.605T>A (p.Leu202Ter)
c.281T>A (p.Leu94Ter)
c.620T>A (p.Leu207Ter)
Xg.108575968T>CCA413922508COL4A5c.605T>C (p.Leu202Ser)
c.281T>C (p.Leu94Ser)
c.620T>C (p.Leu207Ser)
Xg.108575968T>GCA413922512COL4A5c.605T>G (p.Leu202Trp)
c.281T>G (p.Leu94Trp)
c.620T>G (p.Leu207Trp)
Xg.108575969G>ACA517991711COL4A5c.606G>A (p.Leu202=)
c.282G>A (p.Leu94=)
c.621G>A (p.Leu207=)
 gnomAD v4
Xg.108575969G>CCA10488515COL4A5c.606G>C (p.Leu202Phe)
c.282G>C (p.Leu94Phe)
c.621G>C (p.Leu207Phe)
 dbSNP ExAC gnomAD v2
Xg.108575969G=CA2450681502COL4A5c.606G= (p.Leu202=)
c.282G= (p.Leu94=)
c.621G= (p.Leu207=)
Xg.108575969G>TCA413922532COL4A5c.606G>T (p.Leu202Phe)
c.282G>T (p.Leu94Phe)
c.621G>T (p.Leu207Phe)
 gnomAD v4
Xg.108575970A>CCA413922538COL4A5c.607A>C (p.Met203Leu)
c.283A>C (p.Met95Leu)
c.622A>C (p.Met208Leu)
Xg.108575970A>GCA413922540COL4A5c.607A>G (p.Met203Val)
c.283A>G (p.Met95Val)
c.622A>G (p.Met208Val)
 gnomAD v4
Xg.108575970A>TCA413922533COL4A5c.607A>T (p.Met203Leu)
c.283A>T (p.Met95Leu)
c.622A>T (p.Met208Leu)
Xg.108575971T>ACA413922543COL4A5c.608T>A (p.Met203Lys)
c.284T>A (p.Met95Lys)
c.623T>A (p.Met208Lys)
Xg.108575971T>CCA413922544COL4A5c.608T>C (p.Met203Thr)
c.284T>C (p.Met95Thr)
c.623T>C (p.Met208Thr)
 gnomAD v4
Xg.108575971T>GCA413922548COL4A5c.608T>G (p.Met203Arg)
c.284T>G (p.Met95Arg)
c.623T>G (p.Met208Arg)
Xg.108575972G>ACA413922554COL4A5c.609G>A (p.Met203Ile)
c.285G>A (p.Met95Ile)
c.624G>A (p.Met208Ile)
 gnomAD v4
Xg.108575972G>CCA413922556COL4A5c.609G>C (p.Met203Ile)
c.285G>C (p.Met95Ile)
c.624G>C (p.Met208Ile)
Xg.108575972G>TCA413922559COL4A5c.609G>T (p.Met203Ile)
c.285G>T (p.Met95Ile)
c.624G>T (p.Met208Ile)
 ClinVar dbSNP
Xg.108575973G>ACA258285COL4A5c.609+1G>A (n.609+1G>A)
c.285+1G>A (n.285+1G>A)
c.624+1G>A (n.624+1G>A)
 ClinVar dbSNP gnomAD v4
Xg.108575973G>CCA413922577COL4A5c.609+1G>C (n.609+1G>C)
c.285+1G>C (n.285+1G>C)
c.624+1G>C (n.624+1G>C)
Xg.108575973G=CA2450681503COL4A5c.609+1G= (n.609+1G=)
c.285+1G= (n.285+1G=)
c.624+1G= (n.624+1G=)
Xg.108575973G>TCA413922580COL4A5c.609+1G>T (n.609+1G>T)
c.285+1G>T (n.285+1G>T)
c.624+1G>T (n.624+1G>T)
 gnomAD v4
Xg.108575974T>ACA413922592COL4A5c.609+2T>A (n.609+2T>A)
c.285+2T>A (n.285+2T>A)
c.624+2T>A (n.624+2T>A)
 gnomAD v4
Xg.108575974T>CCA413922606COL4A5c.609+2T>C (n.609+2T>C)
c.285+2T>C (n.285+2T>C)
c.624+2T>C (n.624+2T>C)
 gnomAD v4
Xg.108575974T>GCA413922616COL4A5c.609+2T>G (n.609+2T>G)
c.285+2T>G (n.285+2T>G)
c.624+2T>G (n.624+2T>G)
Xg.108575975A>CCA2694411698COL4A5c.609+3A>C (n.609+3A>C)
c.285+3A>C (n.285+3A>C)
c.624+3A>C (n.624+3A>C)
 gnomAD v4
Xg.108575975A>GCA2694411701COL4A5c.609+3A>G (n.609+3A>G)
c.285+3A>G (n.285+3A>G)
c.624+3A>G (n.624+3A>G)
 gnomAD v4
Xg.108575976delCA2694411697COL4A5c.609+4del (n.609+4del)
c.285+4del (n.285+4del)
c.624+4del (n.624+4del)
 gnomAD v4
Xg.108575976A>GCA2694411704COL4A5c.609+4A>G (n.609+4A>G)
c.285+4A>G (n.285+4A>G)
c.624+4A>G (n.624+4A>G)
 gnomAD v4
Xg.108575977G>ACA643749773COL4A5c.609+5G>A (n.609+5G>A)
c.285+5G>A (n.285+5G>A)
c.624+5G>A (n.624+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108575977G=CA2450681504COL4A5c.609+5G= (n.609+5G=)
c.285+5G= (n.285+5G=)
c.624+5G= (n.624+5G=)
Xg.108575978C>ACA2579675906COL4A5c.609+6C>A (n.609+6C>A)
c.285+6C>A (n.285+6C>A)
c.624+6C>A (n.624+6C>A)
 gnomAD v4
Xg.108575978C>TCA2694411709COL4A5c.609+6C>T (n.609+6C>T)
c.285+6C>T (n.285+6C>T)
c.624+6C>T (n.624+6C>T)
 gnomAD v4

Number of alleles fetched